Record 151 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Carotid ultrasound examination in Williams syndrome.
AUTHOR(S): Sadler-LS; Gingell-R; Martin-DJ
ADDRESS OF AUTHOR: Department of Pediatrics, State University of New York at Buffalo and the Children's Hospital, 14222, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1998 Feb; 132(2): 354-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To noninvasively measure arterial wall thickness in a group of patients with Williams syndrome (WS). METHODS: High-resolution, real-time B-mode ultrasonography was used to examine the carotid arteries of 20 patients with WS (ages 7 months to 24.9 years) and 25 control subjects (ages 2.5 years to 25.5 years). RESULTS: The mean combined intimal-medial wall thickness of the patients in the WS group was 0.86 mm +/- 0.08 mm compared with a mean of 0.54 mm +/- 0.05 mm in the control subjects (p < 0.0001). Within the WS group, arterial wall thickness did not vary significantly with gender, patient age, the presence or absence of stenotic cardiac disease, or the presence or absence of hypertension. CONCLUSIONS: The ultrasonographic finding of increased carotid arterial wall thickness across a wide range of patients with WS demonstrates the pervasive nature of the arteriopathy of this disorder. That increased arterial wall thickness was observed in all patients studied suggests that the arteriopathy of WS is related to haploinsufficiency for the elastin gene.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Tunica-Intima-ultrasonography
MAJOR MeSH HEADINGS: *Carotid-Arteries-ultrasonography; *Williams-Syndrome-ultrasonography
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98165501
UPDATE CODE: 199806
SUBSET: AIM
Record 152 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Body composition, energy expenditure, and energy intake in patients with Williams syndrome [see comments]
COMMENTS: Comment in: J Pediatr 1998 Feb;132(2):195-6
AUTHOR(S): Kaplan-AS; Stallings-VA; Zemel-BS; Green-KA; Kaplan-P
ADDRESS OF AUTHOR: Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1998 Feb; 132(2): 223-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To evaluate the body composition, resting energy expenditure (REE), and energy intake of adolescents and adults with Williams syndrome (WS) compared with matched healthy control subjects. METHODS: Body composition was determined by total body electrical conductivity and anthropometric measurements in six subjects with WS from the WS Clinic at Children's Hospital of Philadelphia and six healthy control subjects matched for age, height, and pubertal stage. REE was measured by open-circuit indirect calorimetry. Dietary intake was assessed by 3-day dietary records. RESULTS: Subjects with WS had similar anthropometric measurements to the control group except for a significantly lower percent body fat (17.1%+/-5.2% vs. 25.0%+/-6.7%). Dietary intake (measured in kilocalories per day) was similar between the two groups. REE was statistically higher by 155 kcal/day in the WS group after controlling for age, gender, and body composition. In addition, the WS group had a significantly higher percent predicted REE according to the World Health Organization equation, which adjusts for age, gender, and body weight. CONCLUSION: Adolescents and adults with WS have a similar dietary intake but a lower body fat than healthy control subjects. A higher REE may contribute to the thin body habitus and reduced total body fat stores of people with WS.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Regression-Analysis
MAJOR MeSH HEADINGS: *Body-Composition; *Energy-Intake; *Energy-Metabolism; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RR00240RRNCRR
MEDLINE ACCESSION NUMBER: 98165475
UPDATE CODE: 199806
SUBSET: AIM
Record 153 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: The tangled relationship of energy expenditure, energy intake, and body weight [editorial; comment]
COMMENTS: Comment on: J Pediatr 1998 Feb;132(2):223-7. Comment on: J Pediatr 1998 Feb;132(2):228-33
AUTHOR(S): Schoeller-DA
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1998 Feb; 132(2): 195-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Child-; Rett-Syndrome-physiopathology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Body-Weight-physiology; *Energy-Intake; *Energy-Metabolism
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; EDITORIAL
MEDLINE ACCESSION NUMBER: 98165468
UPDATE CODE: 199806
SUBSET: AIM
Record 154 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Lung transplantation for Williams-Campbell syndrome.
AUTHOR(S): Palmer-SM Jr; Layish-DT; Kussin-PS; Oury-T; Davis-RD; Tapson-VF
ADDRESS OF AUTHOR: Division of Pulmonary and Critical Care Medicine, Duke University Medical Center, Durham, NC 27710, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Chest. 1998 Feb; 113(2): 534-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-3692
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Campbell syndrome is a rare disorder characterized by a deficiency of cartilage in subsegmental bronchi leading to distal airway collapse and bronchiectasis. We report the first case of lung transplantation in a patient with end-stage lung disease secondary to Williams-Campbell syndrome. Although the patient did not have proximal airway collapse prior to transplantation, his posttransplant course was complicated by the development of bronchomalacia of the right and left mainstem bronchi. The patient experienced recurrent pulmonary infections and died of bacterial pneumonia 1 year after transplantation. Autopsy revealed cartilage deficiency in both right and left mainstem bronchi. A hypothesis may be made that a combination of proximal cartilage deficiency and posttransplant airway ischemia led to the development of bronchomalacia after lung transplantation. Thus, in contrast to previous reports, the cartilage deficiency in Williams-Campbell syndrome can involve both proximal and distal airways. Consequently, bilateral sequential lung transplantation may not be an effective therapeutic option in patients with this syndrome.
MINOR MESH HEADINGS: Adult-; Airway-Obstruction-etiology; Bronchi-blood-supply; Bronchi-pathology; Bronchial-Diseases-surgery; Bronchiectasis-surgery; Cartilage-Diseases-surgery; Fatal-Outcome; Ischemia-etiology; Lung-Transplantation-adverse-effects; Pneumonia,-Bacterial-etiology; Postoperative-Complications; Pseudomonas-aeruginosa; Pseudomonas-Infections; Pulmonary-Emphysema-etiology; Recurrence-; Respiratory-Insufficiency-etiology; Syndrome-; Treatment-Outcome
MAJOR MeSH HEADINGS: *Bronchial-Diseases-congenital; *Bronchiectasis-etiology; *Cartilage-Diseases-congenital; *Lung-Transplantation
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98140820
UPDATE CODE: 199805
SUBSET: AIM
Record 155 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cognitive, adaptive, and behavioral characteristics of Williams syndrome [see comments]
COMMENTS: Comment in: Am J Med Genet 1999 Feb 5;88(1):103-4
AUTHOR(S): Greer-MK; Brown-FR-3rd; Pai-GS; Choudry-SH; Klein-AJ
ADDRESS OF AUTHOR: Department of Pediatrics, Medical University of South Carolina, Charleston 29425-3310, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Sep 19; 74(5): 521-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome is a genetic disorder linked to cognitive and behavioral patterns of varying consistency; this study was conducted to clarify further the strengths and weaknesses of children with Williams syndrome. Fifteen subjects with the characteristic features of Williams syndrome were evaluated using the Stanford-Binet Intelligence Scale for Children, Fourth Edition; the Vineland Adaptive Behavior Scales, Interview Edition; and the Child Behavior Checklist. Cognitive skills ranged from the Moderate Range of Mental Retardation to the Low Average range, with relative strengths in nonverbal and quantitative reasoning. Adaptive skills were delayed, with strengths in communication and socialization. Behaviorally, clinically significant levels of attention problems, borderline-significant levels of social and thought problems, and significantly low levels of social contacts and structured activities were found. In contrast to the findings of many other studies of Williams syndrome, language skills and short-term memory skills were weak. Children with Williams syndrome may present a more evenly developed intellectual profile, with verbal and nonverbal skills being commensurate. In conclusion, a variety of cognitive, adaptive, and behavioral patterns have been shown to be possible in Williams syndrome; therefore, a single predictable cognitive or behavioral phenotype cannot be assumed.
MINOR MESH HEADINGS: Activities-of-Daily-Living; Adolescence-; Child-; Child,-Preschool; Motor-Skills; Social-Behavior; Stanford-Binet-Test; Verbal-Behavior; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Adaptation,-Psychological; *Adolescent-Behavior; *Child-Behavior; *Neurobehavioral-Manifestations; *Williams-Syndrome-psychology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98000251
UPDATE CODE: 199801
Record 156 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Subnormal binocular vision in the Williams syndrome.
AUTHOR(S): Olitsky-SE; Sadler-LS; Reynolds-JD
ADDRESS OF AUTHOR: Department of Ophthalmology, Children's Hospital of Buffalo, State University of New York at Buffalo 14222, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr-Ophthalmol-Strabismus. 1997 Jan-Feb; 34(1): 58-60
INTERNATIONAL STANDARD SERIAL NUMBER: 0191-3913
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: PURPOSE: Patients with Williams syndrome have been found to have a high prevalence of strabismus. This may be due to a primary sensory abnormality. The purpose of this study was to determine the prevalence of subnormal binocular vision in patients with Williams syndrome. METHODS: Patients being followed in an interdisciplinary Williams syndrome clinic were prospectively evaluated to determine their binocular status. RESULTS: Eleven patients with Williams syndrome underwent an ophthalmologic evaluation. Twenty-seven percent of patients had strabismus (3/11). Eight patients demonstrated no measurable strabismus. Six of these patients were found to have monofixation syndrome. CONCLUSIONS: There is a high prevalence of subnormal binocular vision in Williams syndrome. This subnormal binocular vision may explain the high prevalence of strabismus in this syndrome.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Infant-; Prevalence-; Prospective-Studies; Strabismus-complications; Strabismus-physiopathology; Vision,-Low-physiopathology; Visual-Acuity; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Vision,-Binocular-physiology; *Vision,-Low-complications; *Williams-Syndrome-complications
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97179396
UPDATE CODE: 199705
Record 157 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [An adult case of Williams-Campbell syndrome associated with pulmonary hypertension and a severe decrease in ventilatory response]
AUTHOR(S): Amano-S; Yoshida-Y; Shimizu-H; Takeda-T; Urabe-N; Mizoo-A; Kimura-H; Kuriyama-T
ADDRESS OF AUTHOR: Department of Medicine, Numazu-city Hospital, Shizuoka, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nihon-Kyobu-Shikkan-Gakkai-Zasshi. 1997 Nov; 35(11): 1265-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-1542
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: Williams-Campbell syndrome is a unique form of bronchiectasis caused by a congenital defect in bronchial cartilage, and is rare in Japan. A 34-year-old man was admitted to our hospital with a fever, and a productive cough. Arterial blood gas analysis revealed severe type II-respiratory failure. Many thin-walled cystic shadows (5-60 mm in diameter) were present in the entire lung field. Pulmonary function tests revealed obstructive impairment. Bronchograms demonstrated cystic bronchiectasis, with ballooning on inspiration and collapse on expiration, characteristic of Williams-Campbell syndrome. Despite severe hypoxia, he did not suffer from dyspnea. We examined ventilatory response to hypercapnea (HCVR) and hypoxia (HVR), and both HCVR and HVR were abnormal. In addition, the mean pulmonary artery pressure was 26 mmHg, indicating pulmonary hypertension.
MINOR MESH HEADINGS: Adult-; Anoxia-etiology; Bronchial-Diseases-congenital; Bronchiectasis-congenital; Cartilage-Diseases-congenital; English-Abstract; Hypercapnia-etiology; Syndrome-
MAJOR MeSH HEADINGS: *Bronchiectasis-complications; *Hypertension,-Pulmonary-etiology; *Respiratory-Insufficiency-etiology
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98154508
UPDATE CODE: 199805
Record 158 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Word learning in a special population: do individuals with Williams syndrome obey lexical constraints?
AUTHOR(S): Stevens-T; Karmiloff-Smith-A
ADDRESS OF AUTHOR: University College London.
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Lang. 1997 Oct; 24(3): 737-65
INTERNATIONAL STANDARD SERIAL NUMBER: 0305-0009
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WS), a rare neurodevelopmental disorder, is of special interest to developmental psycholinguists because of its uneven linguistico-cognitive profile of abilities and deficits. One proficiency manifest in WS adolescents and adults is an unusually large vocabulary despite serious deficits in other domains. In this paper, rather than focus on vocabulary size, we explore the processes underlying vocabulary acquisition, i.e. how new words are learned. A WS group was compared to groups of normal MA-matched controls in the range 3-9 years in four different experiments testing for constraints on word learning. We show that in construing the meaning of new words, normal children at all ages display fast mapping and abide by the constraints tested: mutual exclusivity, whole object and taxonomic. By contrast, while the WS group showed fast mapping and the mutual exclusivity constraint, they did not abide by the whole object or taxonomic constraints. This suggests that measuring only the size of WS vocabulary can distort conclusions about the normalcy of WS language. Our study shows that despite equivalent behaviour (i.e. vocabulary test age), the processes underlying how vocabulary is acquired in WS follow a somewhat different path from that of normal children and that the atypically developing brain is not necessarily a window on normal development.
MINOR MESH HEADINGS: Age-Factors; Child-; Child,-Preschool; Language-Tests
MAJOR MeSH HEADINGS: *Child-Language; *Language-Development; *Language-Disorders-diagnosis; *Verbal-Learning; *Vocabulary-; *Williams-Syndrome-diagnosis
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 98180122
UPDATE CODE: 199807
Record 159 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Williams syndrome: a window to the development of cognitive and neural processes]
ORIGINAL TITLE: La sindrome di Williams: una finestra aperta sullo sviluppo dei processi cognitivi e neurali.
AUTHOR(S): Capirci-O; Queyras-A; Alleva-E; Volterra-V
ADDRESS OF AUTHOR: Istituto di Psicologia, Consiglio Nazionale delle Ricerche, Roma.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Ist-Super-Sanita. 1997; 33(2): 259-66
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-2571
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ITALIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Williams syndrome (SW) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation with a deficit in the visuo-spatial cognitive function and a relative preservation of linguistic abilities. This syndrome also includes morphological anomalies and metabolic-functional impairments, likely deficits in the pattern of brain ontogenesis. Neuropsychological and somatic features of the SW individuals are illustrated, and the correspondent genetic bases, recently identified, are presented. The possible role of NGF (nerve growth factor), a particular neurotrophin involved in the development of brain cholinergic system and the associated behavioural functions, in the aetiology of the typical mental retardation of SW patients, is critically discussed. Prospect of researches, including the identification of potential neurobiological markers and the definition of appropriate cognitive profiles of the SW, in order to precociously diagnose this syndrome, and a more thorough investigation of factors affecting phenotypic expression of this genetically determined pathological condition, are reviewed.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; English-Abstract; Language-Development; Nerve-Growth-Factors-physiology; Psychomotor-Performance-physiology; Space-Perception; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Cognition-physiology; *Nervous-System-growth-and-development; *Williams-Syndrome-physiopathology
CHECKTAGS: English-Abstract; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Nerve-Growth-Factors
MEDLINE ACCESSION NUMBER: 98131026
UPDATE CODE: 199807
Record 160 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: On the trail of genetic culprits in Williams syndrome.
AUTHOR(S): Keating-MT
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Cardiovasc-Res. 1997 Nov; 36(2): 134-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0008-6363
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
MINOR MESH HEADINGS: Infant,-Newborn; Phenotype-; Williams-Syndrome-etiology
MAJOR MeSH HEADINGS: *Drug-Hypersensitivity-complications; *Elastin-genetics; *Gene-Deletion; *Vitamin-D-adverse-effects; *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 1406-16-2; 9007-58-3
NAME OF SUBSTANCE: Vitamin-D; Elastin
MEDLINE ACCESSION NUMBER: 98124786
UPDATE CODE: 199805
Record 161 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Huldre folk of elfame: a case of hidden infirmities.
AUTHOR(S): Weber-KT
ADDRESS OF AUTHOR: University of Missouri-Columbia, Division of Cardiology, OH 65212, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Cardiovasc-Res. 1997 Nov; 36(2): 132-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0008-6363
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: NETHERLANDS
MINOR MESH HEADINGS: Child-; Vitamin-D-administration-and-dosage
MAJOR MeSH HEADINGS: *Drug-Hypersensitivity-complications; *Vitamin-D-adverse-effects; *Williams-Syndrome-chemically-induced
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 1406-16-2
NAME OF SUBSTANCE: Vitamin-D
MEDLINE ACCESSION NUMBER: 98124785
UPDATE CODE: 199805
Record 162 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
AUTHOR(S): Osborne-LR; Herbrick-JA; Greavette-T; Heng-HH; Tsui-LC; Scherer-SW
ADDRESS OF AUTHOR: Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1997 Oct 15; 45(2): 402-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The human PMS2 mismatch repair gene and a family of at least 17 other related genes (named human PMSR or PMS2L genes) have been localized to human chromosome 7. Human PMS2 has been mapped previously to 7p22 and shown to be causative in hereditary nonpolyposis colon cancer (HNPCC), but the human PMS2L genes have not been positioned in the context of the physical or genetic map of chromosome 7. In this study we have used various mapping methodologies to determine the precise location of the human PMS2L genes at 7q11.22, 7q11.23, and 7q22. Within 7q11.23, human PMS2L genes were found to be present at at least three sites as part of duplicated genomic segments that flank the most common rearrangement breakpoints in Williams syndrome. Copyright 1997 Academic Press.
MINOR MESH HEADINGS: Base-Sequence; Chromosome-Mapping; Chromosomes,-Human,-Pair-7-ultrastructure; Chromosomes,-Yeast-Artificial-genetics; Cosmids-genetics; DNA-Primers-genetics; Gene-Rearrangement; Genetic-Markers; In-Situ-Hybridization,-Fluorescence; Multigene-Family; Polymerase-Chain-Reaction
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *DNA-Repair-genetics; *Proteins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: Cosmids; DNA-Primers; Genetic-Markers; Proteins; PMS2-protein
MEDLINE ACCESSION NUMBER: 98008931
UPDATE CODE: 199804
Record 163 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23.
AUTHOR(S): Wedemeyer-N; Peoples-R; Himmelbauer-H; Lehrach-H; Francke-U; Wanker-EE
ADDRESS OF AUTHOR: Max-Planck-Institut fur Molekulare Genetik, Berlin, Dahlem, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1997 Dec 1; 46(2): 313-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Blotting,-Southern; Chromosome-Mapping-methods; Gene-Dosage; Genetic-Markers
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *DNA-Binding-Proteins-genetics; *Elastin-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 9007-58-3
NAME OF SUBSTANCE: DNA-Binding-Proteins; Genetic-Markers; HIP1-protein; Elastin
MEDLINE ACCESSION NUMBER: 98086494
UPDATE CODE: 199804
Record 164 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Mental retardation: a review of the past 10 years. Part II.
AUTHOR(S): State-MW; King-BH; Dykens-E
ADDRESS OF AUTHOR: Department of Psychiatry and Biobehavioral Sciences, UCLA School of Medicine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): J-Am-Acad-Child-Adolesc-Psychiatry. 1997 Dec; 36(12): 1664-71
INTERNATIONAL STANDARD SERIAL NUMBER: 0890-8567
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To review the literature over the past decade on mental retardation, particularly with respect to genetics and behavioral phenotypes. METHOD: A computerized search was performed for articles published in the past decade, and selected papers were highlighted. RESULTS: The study of mental retardation has benefited considerably by advances in medicine generally, and by developments in molecular neurobiology in particular. These advances in genetics have led to new insights regarding the causes of mental retardation, as well as a growing appreciation of behavioral phenotypes associated with some mental retardation syndromes. CONCLUSIONS: Although the study of developmental disorders has advanced significantly over the past decade, considerable work remains. Mental retardation should remain the model for the utility of the biopsychosocial approach in medicine.
MINOR MESH HEADINGS: Adolescence-; Child-; Combined-Modality-Therapy; Down-Syndrome-genetics; Down-Syndrome-psychology; Down-Syndrome-rehabilitation; Fragile-X-Syndrome-genetics; Fragile-X-Syndrome-psychology; Fragile-X-Syndrome-rehabilitation; Mental-Retardation-genetics; Mental-Retardation-psychology; Phenotype-; Prader-Willi-Syndrome-genetics; Prader-Willi-Syndrome-psychology; Prader-Willi-Syndrome-rehabilitation; Prognosis-; Psychopathology-; Williams-Syndrome-genetics; Williams-Syndrome-psychology; Williams-Syndrome-rehabilitation
MAJOR MeSH HEADINGS: *Mental-Retardation-rehabilitation
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE
CONTRACT OR GRANT NUMBERS: RO1MH33779MHNIMH
MEDLINE ACCESSION NUMBER: 98064594
UPDATE CODE: 199803
Record 165 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams syndrome.
AUTHOR(S): Bonnet-D; Cormier-V; Villain-E; Bonhoeffer-P; Kachaner-J
ADDRESS OF AUTHOR: Service de Cardiologie Pediatrique, Hopital Necker/Enfants-Malades, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1997 Oct; 156(10): 751-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: We report a 3-year-old child with Williams syndrome in whom the first vascular feature of the syndrome was a myocardial infarction related to the occlusion of the left main coronary artery trunk. This coronary artery occlusion was not associated with supravalvular aortic stenosis. CONCLUSION: This report emphazises that acute vascular events related to systemic artery anomalies may reveal Williams syndrome.
MINOR MESH HEADINGS: Child,-Preschool; Chromosomes,-Human,-Pair-7; Coronary-Angiography; Elastin-genetics; Long-QT-Syndrome-genetics; Long-QT-Syndrome-radiography; Long-QT-Syndrome-surgery; Myocardial-Infarction-genetics; Myocardial-Infarction-radiography; Risk-Factors; Williams-Syndrome-genetics; Williams-Syndrome-radiography
MAJOR MeSH HEADINGS: *Coronary-Artery-Bypass; *Myocardial-Infarction-surgery; *Williams-Syndrome-surgery
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 98030343
UPDATE CODE: 199803
Record 166 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Low MSAFP levels and Williams syndrome.
AUTHOR(S): Chodirker-BN; Greenberg-CR; Giddins-NG; Dawson-AJ; Evans-JA; Chudley-AE
ADDRESS OF AUTHOR: Department of Human Genetics, University of Manitoba and Health Sciences Centre, Winnipeg, Canada. chodirk@umanitoba.ca
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Nov 12; 72(4): 448-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening.
MINOR MESH HEADINGS: Prenatal-Diagnosis; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *alpha-Fetoproteins-metabolism; *Pregnancy-blood; *Williams-Syndrome-blood
CHECKTAGS: Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: alpha-Fetoproteins
MEDLINE ACCESSION NUMBER: 98041577
UPDATE CODE: 199802
Record 167 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome and the brain.
AUTHOR(S): Lenhoff-HM; Wang-PP; Greenberg-F; Bellugi-U
ADDRESS OF AUTHOR: University of California, Irvine, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Sci-Am. 1997 Dec; 277(6): 68-73
INTERNATIONAL STANDARD SERIAL NUMBER: 0036-8733
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Brain-pathology; Cardiovascular-Diseases-complications; Cerebellum-pathology; Cerebral-Cortex-pathology; Chromosomes,-Human,-Pair-7; Cognition-; Down-Syndrome-pathology; Down-Syndrome-physiopathology; Elastin-genetics; Gene-Deletion; Intelligence-; Language-; Magnetic-Resonance-Imaging; Mental-Retardation; Music-; Williams-Syndrome-genetics; Williams-Syndrome-pathology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Brain-; *Williams-Syndrome
CHECKTAGS: Comparative-Study; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 98050217
UPDATE CODE: 199802
Record 168 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Do individuals with Williams syndrome have bizarre semantics? Evidence for lexical organization using an on-line task.
AUTHOR(S): Tyler-LK; Karmiloff-Smith-A; Voice-JK; Stevens-T; Grant-J; Udwin-O; Davies-M; Howlin-P
ADDRESS OF AUTHOR: Centre for Speech and Language, Birkbeck College, London. ubjta39@.ccs.bbk.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Cortex. 1997 Sep; 33(3): 515-27
INTERNATIONAL STANDARD SERIAL NUMBER: 0010-9452
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Williams syndrome, a neurodevelopmental disorder, has attracted a great deal of debate concerning the purported intactness of language in the face of other serious cognitive deficits. As more in-depth studies of specific aspects of WS language have emerged, the notion of a preserved language module has been seriously challenged. Although WS vocabulary scores are often impressive, several investigators have claimed the WS semantics are aberrant. All studies hitherto have been based on off-line experiments which necessarily involve metalinguistic processes. This clearly affects the performance of individuals with cognitive deficits. We report here an on-line study probing the semantic structure of the WS lexicon, using a task-semantic priming-which minimises metalinguistic demands. We show that WS subjects display the same taxonomic/category and thematic/functional priming effects as normal controls. The results are discussed in terms of the differences between receptive and expressive language, as well as the fact that although semantic memory and the automatic access to semantic information for individual words is normal in WS, the integration of semantic information into sentence comprehension may be abnormal. The importance of online tasks to highlight such differences is stressed.
MINOR MESH HEADINGS: Adolescence-; Adult-; Cerebral-Cortex-physiopathology; Concept-Formation-physiology; Neuropsychological-Tests; Paired-Associate-Learning-physiology; Reaction-Time-physiology; Reference-Values; Vocabulary-; Wechsler-Scales; Williams-Syndrome-physiopathology; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Semantics-; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97480687
UPDATE CODE: 199802
Record 169 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome--the Singapore General Hospital experience.
AUTHOR(S): Teo-SH; Chan-DK; Yong-MH; Ng-IS; Wong-KY; Knight-L; Ho-LY
ADDRESS OF AUTHOR: Department of Paediatric Medicine, Singapore General Hospital, Singapore.
SOURCE (BIBLIOGRAPHIC CITATION): Ann-Acad-Med-Singapore. 1997 May; 26(3): 360-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0304-4602
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SINGAPORE
ABSTRACT: Williams syndrome first described in 1961 is generally characterised by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by fluorescent in-situ hybridisation (FISH). The deleted portion of the chromosome corresponds to the Elastin gene. We report 3 girls with characteristics of Williams syndrome in whom the diagnosis was confirmed by demonstration of the hemizygous deletion of 7q11.23 in the karyotype by FISH. These patients, aged 6, 7 and 10 years, showed the characteristic facies and gregarious personalities. Some developmental delay with mild mental deficiency and dysmorphic facies were prominent features in the initial presentation. Cardiac lesions found in these patients were small patent ductus arteriosus which closed, pulmonary valvular stenosis and mitral valve prolapse associated with mitral regurgitation respectively. Hypercalcaemia was not documented in these patients. Learning difficulty was a major issue and all patients required special schooling. Chromosome analyses done on peripheral blood were found to be normal in all patients. FISH using the Elastin Williams Syndrome Chromosome Region (WSCR) probes (oncor) showed the hemizygous deletion of 7q11.23. Diagnosis of Williams syndrome can now be confidently confirmed with the help of FISH.
MINOR MESH HEADINGS: Child-; Chromosomes,-Human,-Pair-7; Gene-Deletion; In-Situ-Hybridization,-Fluorescence; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97430934
UPDATE CODE: 199801
Record 170 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [William's syndrome: from phenotype to genotype]
ORIGINAL TITLE: Sindrome de Williams, del fenotipo al genotipo.
AUTHOR(S): Perez-Jurado-LA
ADDRESS OF AUTHOR: Hospital Nino Jesus, Dep. de Bioquimica, Facultad de Medicina, Universidad Autonoma de Madrid.
SOURCE (BIBLIOGRAPHIC CITATION): An-Esp-Pediatr. 1997 Aug; 47(2): 212-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0302-4342
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
MINOR MESH HEADINGS: Genotype-; Phenotype-; Point-Mutation; Polymorphism-Genetics-genetics; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 97453519
UPDATE CODE: 199801
Record 171 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Deletion (4)(q33 --> qter): a case report and review of the literature.
AUTHOR(S): Borochowitz-Z; Shalev-SA; Yehudai-I; Bar-el-H; Dar-H; Tirosh-E
ADDRESS OF AUTHOR: Simon Winter Institute for Human Genetics, Haifa, Israel.
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Neurol. 1997 Aug; 12(5): 335-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0883-0738
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Abnormalities,-Multiple-genetics; Child,-Preschool; Diagnosis,-Differential; Facies-; Heart-Defects,-Congenital-genetics; Syndrome-; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosomes,-Human,-Pair-4-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 98017534
UPDATE CODE: 199801
Record 172 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Personality characteristics and behaviour problems in individuals of different ages with Williams syndrome.
AUTHOR(S): Gosch-A; Pankau-R
ADDRESS OF AUTHOR: Research Centre for Prevention and Intervention in Childhood and Adolescence, University of Bielefeld, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Dev-Med-Child-Neurol. 1997 Aug; 39(8): 527-33
INTERNATIONAL STANDARD SERIAL NUMBER: 0012-1622
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: To study personality characteristics and behaviour problems in different age groups more precisely, the parents of 105 children with Williams syndrome (WS) were asked to complete a questionnaire with a list of 25 personality adjectives and 18 behaviour disturbances. Three age groups-children under 10 years, adolescents between 10 and 20 years, and adults over 20 years of age-were compared. Adults with WS were described as being less lively, determined, active, restless, tearful, quarrelsome, impertinent, and over-friendly in comparison with children with WS. Additionally, adolescents and adults were assessed as being better balanced and more withdrawn than children with WS. Females were found to be less cheerful and happy as well as more tearful and quarrelsome than males, but these results showed only a statistical tendency. A discriminant analysis was performed to prove whether the three age groups could be discriminated on the basis of personality aspects. The results showed correct classification to one of the three age groups in 86% of the individuals with WS. The most discriminating adjectives were active, lively, well balanced, withdrawn, being over-friendly, and vigorous. No differences regarding age or sex were found after calculating a composite score of behaviour problems reported in each individual. However, a comparison of single behaviour problems showed a decrease in external aggressive behaviours and greater depressive symptoms with increasing age.
MINOR MESH HEADINGS: Adolescence-; Adult-; Age-Factors; Child-; Child-Behavior-Disorders-psychology; Child,-Preschool; Discriminant-Analysis; Mental-Disorders-psychology; Personality-Assessment; Personality-Disorders-psychology; Sex-Factors; Williams-Syndrome-complications
MAJOR MeSH HEADINGS: *Child-Behavior-Disorders-complications; *Mental-Disorders-complications; *Personality-Disorders-complications; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97441629
UPDATE CODE: 199801
Record 173 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Behavioral and emotional disturbance in individuals with Williams syndrome.
AUTHOR(S): Einfeld-SL; Tonge-BJ; Florio-T
ADDRESS OF AUTHOR: University of New South Wales.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ment-Retard. 1997 Jul; 102(1): 45-53
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-8017
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Behavioral and emotional disturbance was assessed in 70 children and adolescents with Williams syndrome. They were compared with an epidemiological control population, which was statistically controlled for age, gender, and level of mental retardation. Those with Williams syndrome were more likely to be diagnosed as suffering psychiatric disorder. The disorder was characterized by anxiety, hyperactivity, preoccupations, and inappropriate interpersonal relating. Significantly increased rates of other individual symptoms were also found, including sleep disturbance and hyperacusis. These results, considered with earlier findings, suggest that there is a valid behavior phenotype of Williams syndrome. This is frequently associated with sufficient impairment to consider inclusion of the behavior phenotype in future official taxonomies of mental disorders.
MINOR MESH HEADINGS: Analysis-of-Variance; Anxiety-epidemiology; Case-Control-Studies; Child-; Communication-Disorders-epidemiology; Comorbidity-; Confidence-Intervals; Mental-Retardation-classification; Mental-Retardation-epidemiology; New-South-Wales-epidemiology; Psychiatric-Status-Rating-Scales-standards; ROC-Curve; Williams-Syndrome-classification; Williams-Syndrome-epidemiology
MAJOR MeSH HEADINGS: *Child-Behavior-Disorders-epidemiology; *Williams-Syndrome
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97385393
UPDATE CODE: 199712
Record 174 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams-Beuren syndrome. Long-term results of surgical treatments in six patients.
AUTHOR(S): Actis-Dato-GM; La-Torre-M; Caimmi-P; Actis-Dato-A Jr; Centofanti-P; Ottino-GM; Di-Summa-M
ADDRESS OF AUTHOR: Italian Institution of Cardiac Surgery, Turin, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): J-Cardiovasc-Surg-Torino. 1997 Apr; 38(2): 125-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-9509
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: To settle long-term outcome after surgery for supravalvular aortic stenosis in the Williams-Beuren syndrome, we reviewed the records of 6 patients who had repair of the localized form (n = 5) or diffuse form (n = 1) at our Institution from 1965 to 1971. Four patients were females and 2 males, ages at operation ranged from 9 to 16 years (mean = 13 +/- 2.37 years). In all the patients was present the typical elfin facies with mental retardation and reduced I.Q. Preoperative omeral pressure was different between left and right arm (89 +/- 7/67 +/- 8 vs 105 +/- 8/77 +/- 4). Chest X-ray showed and enlargement of the cardia silhouette in all the patients. Cardiac catheterization, performed in all the patients, allowed diagnosis of supravalvular aortic stenosis and, in one case of subaortic stenosis associated. Intraoperatively a coronary tree enlargement was found in all cases with particular involvement of the right coronary in two patients. The mean diameter of the ascending aorta was 5.67 +/- 1.97 mm but the smallest (3 mm) was in the diffuse group. In group with localized stenosis the aortic root was enlarged with a teardrop patch in Dacron (n = 4) or a simple transverse suture after a longitudinal incision (n = 1). A pantaloon-shaped patch was necessary in the diffuse form case. There were no operative deaths and all the patients were discharged from the hospital after 2 weeks. A clinical follow-up was possible in all the patients (10%) extended from 25 to 30 years (mean = 27.7 +/- 2.19 years); there were no late deaths and at presents time the mean age of the patient is 40 +/- 3 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency studied by Echocardiography and color-Doppler. Of six patients two are living with parents or relatives but four are in a farm-college for disable people working and having some responsibility. We conclude that surgery for the correction of supravalvular aortic stenosis in Williams-Beuren syndrome is mandatory and both the procedures with patch techniques provide excellent long-term results of gradients and aortic valve competence. Moreover the patients after the operation can have a normal activity with a satisfactory style and expectation of life.
MINOR MESH HEADINGS: Adolescence-; Child-; Follow-Up-Studies; Heart-Catheterization; Polyethylene-Terephthalates; Prostheses-and-Implants; Time-Factors; Treatment-Outcome; Williams-Syndrome-epidemiology
MAJOR MeSH HEADINGS: *Williams-Syndrome-surgery
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Polyethylene-Terephthalates
MEDLINE ACCESSION NUMBER: 97344754
UPDATE CODE: 199709
Record 175 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome [letter]
AUTHOR(S): Osborne-LR; Soder-S; Shi-XM; Pober-B; Costa-T; Scherer-SW; Tsui-LC
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1997 Aug; 61(2): 449-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: DNA-Binding-Proteins-genetics; Elastin-genetics; Protein-Serine-Threonine-Kinases-genetics
MAJOR MeSH HEADINGS: *Antigens,-Surface-genetics; *Gene-Deletion; *Nerve-Tissue-Proteins-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: LETTER
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.10; 0; 0; 0; 0; 147338-67-8; 9007-58-3
NAME OF SUBSTANCE: Protein-Serine-Threonine-Kinases; Antigens,-Surface; DNA-Binding-Proteins; Kiz-1-protein; Nerve-Tissue-Proteins; HPC-1-antigen,-rat; Elastin
MEDLINE ACCESSION NUMBER: 97456437
UPDATE CODE: 199712
Record 176 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Familial supravalvular aortic stenosis. Investigation in a family and review of the literature]
ORIGINAL TITLE: Stenose aortique supravalvulaire familiale. Observation d'une famille et revue de la litterature.
AUTHOR(S): Burnel-P; Marcon-F; Lucron-H; Bosser-G; Gilgenkrantz-S; Jonveaux-P; Chery-M; Worms-AM
ADDRESS OF AUTHOR: Service de cardiologie infantile, hopital d'Enfants, Vandoeuvre-les-Nancy.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Mal-Coeur-Vaiss. 1997 May; 90(5): 719-24
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9683
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: Familial supravalvular aortic stenosis is a rare autosomal dominant condition. It may be distinguished from the Williams-Beuren syndrome by the absence of the characteristic dysmorphic appearances and of mental retardation. The case of a 9-year-old girl with a severe surgical stenosis led to the diagnosis of the same malformation in the mother and two brothers. This family adds to the 121 cases reported in the literature describing the main features of SVAS. Molecular biological advances have shown that familial SVAS and the Williams syndrome are due to mutation of the elastin gene located at 7q11-23. In the Williams syndrome the allele of this gene is completely absent and there is also probably deletion of contiguous genes, which explains involvement of cognitive function. In SVAS, the genetic lesion, mutation or microdeletion is more limited, explaining the usually isolated aortic malformation. Other studies are necessary to confirm these results.
MINOR MESH HEADINGS: Adult-; Angiocardiography-; Aortic-Valve-Stenosis-diagnosis; Child-; Chromosomes,-Human,-Pair-7-genetics; Diagnosis,-Differential; Elastin-genetics; English-Abstract; Genetic-Techniques; Genotype-; Mutation-; Pedigree-; Sequence-Deletion; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics
CHECKTAGS: Case-Report; English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 97441738
UPDATE CODE: 199711
Record 177 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Photoanthropometric study of craniofacial traits in individuals with Williams syndrome.
AUTHOR(S): Hovis-CL; Butler-MG
ADDRESS OF AUTHOR: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37230, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1997 Jun; 51(6): 379-87
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
ABSTRACT: A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were measured from strict frontal and profile photographic 35-mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). Sixteen photoanthropometric craniofacial indices were developed from 20 measurements (3 from the frontal face, 2 from the eye region, 3 from the nose region, 2 from the mouth region, 4 from the profile face, and 6 from the ear region). Based on our measurements of 29 Williams syndrome individuals, two parameters (e.g. nose length to midface height and palpebral fissure width to bizygomatic diameter) were outside the normal range when compared with photoanthropometric index standards for age established by Stengel-Rutkowski et al. from white control children. Overall, our data supported a high midface height, broad palpebral fissure width, broad interalar distance, short length of back of nose, prominent ears with long narrow conchae, increased chin height, increased inclination of the ears and a narrow bizygomatic diameter in WS patients. These craniofacial parameters (many not previously evaluated in WS patients) may become useful for early detection, and aid in the diagnosis and study of the development of the characteristic face in Williams syndrome subjects.
MINOR MESH HEADINGS: Age-Factors; Child-; Child,-Preschool; Face-abnormalities; Face-anatomy-and-histology; Infant-; Infant,-Newborn; Mouth-anatomy-and-histology; Mouth-Abnormalities
MAJOR MeSH HEADINGS: *Anthropometry-methods; *Craniofacial-Abnormalities-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: P30HD15052HDNICHD
MEDLINE ACCESSION NUMBER: 97379178
UPDATE CODE: 199711
Record 178 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
AUTHOR(S): Jaeken-J; Detheux-M; Fryns-JP; Collet-JF; Alliet-P; Van-Schaftingen-E
ADDRESS OF AUTHOR: Department of Paediatrica, University Hospital Gasthuisberg, University of Leuven, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1997 Jul; 34(7): 594-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presence of a submicroscopic 7q11.23 deletion, confirming this diagnosis. Further investigation showed that the phosphoserine phosphatase (EC 3.1.3.3.) activity in lymphoblasts and fibroblasts amounted to about 25% of normal values. Oral serine normalised the plasma and CSF levels of this amino acid and seemed to have some clinical effect. These data suggest that the elastin gene and the phosphoserine phosphatase gene might be closely linked. This seems to be the first report of phosphoserine phosphatase deficiency.
MINOR MESH HEADINGS: Administration,-Oral; Chromosome-Deletion; Chromosome-Mapping; Chromosomes,-Human,-Pair-7; Infant-; Serine-administration-and-dosage; Serine-blood; Serine-cerebrospinal-fluid; Serine-therapeutic-use
MAJOR MeSH HEADINGS: *Phosphoric-Monoester-Hydrolases-deficiency; *Williams-Syndrome-enzymology
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.1.3; EC 3.1.3.3; 56-45-1
NAME OF SUBSTANCE: Phosphoric-Monoester-Hydrolases; phosphoserine-phosphatase; Serine
MEDLINE ACCESSION NUMBER: 97366162
UPDATE CODE: 199711
Record 179 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement.
AUTHOR(S): De-Ferrari-ME; Colussi-G; Brunati-C; Rombola-G; Civati-G
ADDRESS OF AUTHOR: Division of Nephrology and Dialysis, Niguarda-Ca' Granda Hospital, Milan, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Nephrol-Dial-Transplant. 1997 Jul; 12(7): 1484-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0931-0509
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Aldosterone-blood; Child,-Preschool
MAJOR MeSH HEADINGS: *Acidosis,-Renal-Tubular-etiology; *Kidney-Calculi-etiology; *Uric-Acid-metabolism; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 52-39-1; 69-93-2
NAME OF SUBSTANCE: Aldosterone; Uric-Acid
MEDLINE ACCESSION NUMBER: 97393276
UPDATE CODE: 199711
Record 180 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Infantile spasms in two children with Williams syndrome.
AUTHOR(S): Tsao-CY; Westman-JA
ADDRESS OF AUTHOR: Department of Pediatrics, The Ohio State University, Columbus, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Jul 11; 71(1): 54-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhythmia. This represents one of the first reports of infantile spasms in the Williams syndrome.
MINOR MESH HEADINGS: Adult-; Child,-Preschool; Chromosome-Aberrations; Chromosomes,-Human,-Pair-7; Elastin-genetics; Gene-Deletion; Infant-; Spasms,-Infantile-genetics; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Spasms,-Infantile-complications; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 97358673
UPDATE CODE: 199711
Record 181 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Surgical treatment of diffuse supravalvular aortic stenosis with Williams syndrome]
AUTHOR(S): Sudoh-Y; Takahara-Y; Sunazawa-T
ADDRESS OF AUTHOR: Division of Cardiovascular Surgery, Funabashi Municipal Hospital, Chiba, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nippon-Kyobu-Geka-Gakkai-Zasshi. 1997 May; 45(5): 764-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0369-4739
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: A five-year-old boy was admitted to our hospital because of a cardiac murmur and an abnormal electrocardiogram. He had a distinct pattern of facial features and mild mental and developmental retardation. An aortogram revealed that the aorta was hypoplastic from just above the Valsalva sinuses to the aortic arch. Moreover, the basal portions of the arch vessels were also hypoplastic. A diagnosis of diffuse supravalvular aortic stenosis was made. The pressure gradient between the left ventricle and the descending aorta was 74 mmHg on catheter examination. Surgical therapy was therefore indicated. The hypoplastic lesions of the aorta and arch vessels were enlarged with a Dacron patch under cardiopulmonary bypass and deep hypothermic circulatory arrest. The postoperative course was uneventful. The pressure gradient decreased to 7 mmHg on catheter examination. This type of supravalvular aortic stenosis is quite rare. Further follow-up is required to evaluate long-term outcome.
MINOR MESH HEADINGS: Cardiopulmonary-Bypass; Child,-Preschool; English-Abstract
MAJOR MeSH HEADINGS: *Aorta,-Thoracic-surgery; *Aortic-Subvalvular-Stenosis-surgery; *Blood-Vessel-Prosthesis; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97314669
UPDATE CODE: 199711
Record 182 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A specific deficit of dorsal stream function in Williams' syndrome.
AUTHOR(S): Atkinson-J; King-J; Braddick-O; Nokes-L; Anker-S; Braddick-F
ADDRESS OF AUTHOR: Department of Psychology, University College, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroreport. 1997 May 27; 8(8): 1919-22
INTERNATIONAL STANDARD SERIAL NUMBER: 0959-4965
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams' syndrome (WS) is a rare, genetically based disorder of cognitive development. Affected individuals show a severe deficit of spatial cognition but a relative sparing of language and face recognition. To examine the possible neural basis of the spatial deficit, we tested a group of WS children, aged 4-14 years, on two measures specific to dorsal cortical stream function: global motion coherence thresholds, in comparison with an analogous form-coherence test, and visuo-manual accuracy in posting a card through a slot, compared with matching the slot orientation. Deficits in these tasks provide the first evidence of specific involvement in WS of the dorsal stream, the cortical system believed to encode information about spatial relationships and the visual control of action.
MINOR MESH HEADINGS: Adolescence-; Adult-; Aging-physiology; Child-; Child,-Preschool; Cognition-physiology; Motion-Perception-physiology; Neuropsychological-Tests; Orientation-physiology; Psychomotor-Performance-physiology
MAJOR MeSH HEADINGS: *Cerebral-Cortex-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE; RANDOMIZED-CONTROLLED-TRIAL
MEDLINE ACCESSION NUMBER: 97366267
UPDATE CODE: 199711
Record 183 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Genetic diagnosis of Williams syndrome]
ORIGINAL TITLE: A Williams-szindroma genetikai diagnozisa.
AUTHOR(S): Urban-Z; Kiss-E; Kadar-K; Szabolcs-J; Csiszar-K; Boyd-DC; Fekete-G
ADDRESS OF AUTHOR: Semmelweis Orvostudomanyi Egyetem, II. Gyermekklinika Budapest.
SOURCE (BIBLIOGRAPHIC CITATION): Orv-Hetil. 1997 Jul 6; 138(27): 1749-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0030-6002
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: HUNGARIAN; NON-ENGLISH
COUNTRY OF PUBLICATION: HUNGARY
ABSTRACT: Williams syndrome is a complex developmental disorder. The major cardiovascular component of Williams syndrome is supravalvular aortic stenosis, a progressive disease that may need surgical repair. Williams syndrome is associated with heterozygous microdeletion in the chromosomal region 7q11.23 encompassing the elastin gene. We have identified a new, highly informative tetranucleotide repeat polymorphism within the human elastin gene. This marker together with other, previously described elastin gene markers was used to show deletion of the elastin gene in nine sporadic Williams syndrome patients from Hungary. Application of polymorphisms within and flanking the elastin gene on chromosome 7 provides a fast, polymerase chain reaction based method for mutational analysis of Williams syndrome patients.
MINOR MESH HEADINGS: Aortic-Valve-Stenosis-etiology; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-7; Elastin-genetics; English-Abstract; Genetic-Markers; Heterozygote-; Hungary-epidemiology; Pedigree-; Polymerase-Chain-Reaction; Polymorphism-Genetics; Williams-Syndrome-complications; Williams-Syndrome-diagnosis; Williams-Syndrome-epidemiology
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Williams-Syndrome-genetics
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 97407230
UPDATE CODE: 199710
Record 184 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
AUTHOR(S): Tassabehji-M; Metcalfe-K; Donnai-D; Hurst-J; Reardon-W; Burch-M; Read-AP
ADDRESS OF AUTHOR: Department of Medical Genetics, St Mary's Hospital, Manchester, UK. m.tassabehji@man.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Mol-Genet. 1997 Jul; 6(7): 1029-36
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-6906
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are 34 exons occupying approximately 47 kb of genomic DNA. All exons are in-frame, allowing exon skipping without disrupting the reading frame. Microsatellites are located in introns 17 and 18. Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. We list primer pairs for amplifying each exon, with flanking intron, from genomic DNA to allow detection of point mutations in the ELN gene. We show that some patients with isolated SVAS have point mutations that are predicted to lead to premature chain termination. Knowledge of the genomic structure will allow more extensive mutation screening in genomic DNA of patients with SVAS and other conditions.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Aortic-Valve-Stenosis-surgery; Base-Sequence; Child,-Preschool; Exons-; Genes,-Dominant; Infant-; Infant,-Newborn; Introns-; Microsatellite-Repeats; Molecular-Sequence-Data; Repetitive-Sequences,-Nucleic-Acid
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Elastin-genetics; *Point-Mutation
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 97358575
UPDATE CODE: 199710
Record 185 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Treatment of children with Williams syndrome with methylphenidate.
AUTHOR(S): Bawden-HN; MacDonald-GW; Shea-S
ADDRESS OF AUTHOR: Department of Psychology, IWK-Grace Health Centre, Halifax, NS, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): J-Child-Neurol. 1997 Jun; 12(4): 248-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0883-0738
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Children with Williams syndrome frequently present with symptoms of attention deficit hyperactivity disorder (ADHD), but there is little information that stimulant medication is useful in this population. A series of double-blind, placebo-controlled case studies was used to evaluate the cognitive and behavioral effects of methylphenidate on four children with Williams syndrome. Teachers and mothers completed behavioral rating scales and cognitive tests of attention, learning and memory, and academic productivity and accuracy in mathematics in each medication condition. Two of the children responded favorably in terms of decreased impulsivity, decreased irritability, and lower activity level as well as improved ability to pay attention. Methylphenidate is a useful adjunct in the treatment of some children with Williams syndrome.
MINOR MESH HEADINGS: Adolescence-; Attention-Deficit-Disorder-with-Hyperactivity-etiology; Child-; Double-Blind-Method; Impulsive-Behavior; Irritable-Mood-drug-effects; Longitudinal-Studies; Neuropsychological-Tests; Treatment-Outcome; Williams-Syndrome-complications
MAJOR MeSH HEADINGS: *Attention-Deficit-Disorder-with-Hyperactivity-drug-therapy; *Central-Nervous-System-Stimulants-therapeutic-use; *Cognition-drug-effects; *Methylphenidate-therapeutic-use; *Williams-Syndrome-drug-therapy
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 113-45-1
NAME OF SUBSTANCE: Central-Nervous-System-Stimulants; Methylphenidate
MEDLINE ACCESSION NUMBER: 97346649
UPDATE CODE: 199710
Record 186 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Hyperacusis in Williams syndrome: a sample survey study.
AUTHOR(S): Van-Borsel-J; Curfs-LM; Fryns-JP
ADDRESS OF AUTHOR: Centrum voor Gehoor-en Spraakrevalidatie, UZ Gent, Belgium.
SOURCE (BIBLIOGRAPHIC CITATION): Genet-Couns. 1997; 8(2): 121-6
INTERNATIONAL STANDARD SERIAL NUMBER: 1015-8146
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Williams syndrome is a true multiple congenital anomalies mental retardation syndrome affecting the vascular, connective tissue and the central nervous system. Affected individuals have a distinctive neuropsychological profile characterized by extremely poor visuospatial skills but relatively preserved verbal skills. A very striking characteristic is the hyperacusis or over-sensitivity to particular sounds. Klein et al. (4) found high rates (95%) of auditory over-sensitivity in a sample of Williams patients. The cause and mechanisms of auditory-over-sensitivity in Williams syndrome remain unclear. Some association has been suggested between hyperacusis and the occurrence of otitis media and also between hyperacusis and hyperactivity. The present study reports the results of an investigation into the occurrence of hyperacusis, otitis media and hyperactivity in a large group (N = 82) of Dutch speaking subjects with Williams syndrome from Belgium and The Netherlands. Prevalence and characteristics of hyperacusis and co-occurrence with otitis media and hyperactivity will be discussed and some management strategies are offered.
MINOR MESH HEADINGS: Adolescence-; Adult-; Attention-Deficit-Disorder-with-Hyperactivity-genetics; Child-; Child,-Preschool; Infant-; Loudness-Perception-physiology; Middle-Age; Netherlands-; Otitis-Media-genetics; Phenotype-
MAJOR MeSH HEADINGS: *Auditory-Threshold-physiology; *Hearing-Disorders-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97362546
UPDATE CODE: 199710
Record 187 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome]
ORIGINAL TITLE: Arterielle Hypertension und Blutdruckprofil bei Patienten mit Williams-Beuren-Syndrom.
AUTHOR(S): Wessel-A; Motz-R; Pankau-R; Bursch-JH
ADDRESS OF AUTHOR: Klinik fur Padiatrische Kardiologie, Georg-August-Universitat, Gottingen.
SOURCE (BIBLIOGRAPHIC CITATION): Z-Kardiol. 1997 Apr; 86(4): 251-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0300-5860
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: GERMAN; NON-ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The prevalence of hypertension and the diurnal blood pressure pattern were investigated in patients with Williams-Beuren syndrome (WBS) by blood pressure measurements in 142 children, adolescents, and young adults (female n = 62, male n = 80; median age 6.5 years (0.1-34.3 years)) and evaluation of ambulatory blood pressure data from 45 patients (female n = 21, male n = 24; median age 7.8 years (1-23.8 years)). Measurements revealed systolic hypertension in 46.5% of 142 patients, diastolic hypertension occurred in 36.6% (i.e. actual pressure > 95 percentile). According to the ambulatory data 42.2% of 45 patients had hypertension (mean arterial pressure > normal + 2SD). The nocturnal decline of the blood pressure was normal in hypertensive patients but reduced in normotensives (p < 0.01 vs normals). Males were more often hypertensive than females (46% vs 38%). Hypertensives had a higher body mass index than normotensives (19.5 vs 16.6 kg/m2, p < 0.05). In normo- and hypertensive WBS patients mean heart rates were elevated during day- and nighttime (p < 0.02 vs normals) the latter due to a reduced nocturnal decline. The prevalence of hypertension in WBS patients amounts to about 40%, thus being four- to eight-fold in comparison to healthy young adults or children. The diurnal blood pressure pattern and the elevated heart rates indicate that an increased arterial stiffness due to the vascular disease in the WBS and augmented sympathetic activity might play a role in the genesis of hypertension. Thus, effective antihypertensive treatment is likely to become difficult. From our experience beta-blocking agents are often successful in hypertensive WBS patients.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Circadian-Rhythm-physiology; English-Abstract; Heart-Rate-physiology; Hypertension-physiopathology; Infant-; Muscle,-Smooth,-Vascular-physiopathology; Systole-physiology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Blood-Pressure-Monitors; *Hypertension-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: English-Abstract; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97309886
UPDATE CODE: 199710
Record 188 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome as a model of genetically determined right-hemisphere dominance.
AUTHOR(S): Bogdanov-NN; Solonichenko-VG
ADDRESS OF AUTHOR: Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, Moscow.
SOURCE (BIBLIOGRAPHIC CITATION): Neurosci-Behav-Physiol. 1997 May-Jun; 27(3): 264-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0097-0549
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Studies were carried out on the dermatoglyphics (skin ridge marks) on the hands of children with Williams syndrome; this is an inherited disease with cardiovascular pathology and a characteristic facial phenotype ("elf" facies), along with specific mental and cognitive disturbances. The results suggest a characteristic dermatoglyphic type with the presence of complex whorls on the fingers and a clear predominance of marks of greater complexity on the left hand; this is a very rare trait in normal people and in those with other inherited nervous system disorders. The features of the dermatoglyphic pattern serve as a characteristic marker of a genetically determined state of the human central nervous system, and suggests directions for neurophysiological studies of children with Williams syndrome as a unique model for analysis of higher nervous function in humans.
MINOR MESH HEADINGS: Brain-physiopathology; Child-; Child,-Preschool; Dermatoglyphics-
MAJOR MeSH HEADINGS: *Laterality-genetics; *Williams-Syndrome-genetics; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97337321
UPDATE CODE: 199710
Record 189 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
AUTHOR(S): Fryssira-H; Palmer-R; Hallidie-Smith-KA; Taylor-J; Donnai-D; Reardon-W
ADDRESS OF AUTHOR: Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
SOURCE (BIBLIOGRAPHIC CITATION): J-Med-Genet. 1997 Apr; 34(4): 306-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-2593
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Both Williams syndrome and isolated supravalvular aortic stenosis (SVAS) are caused by mutations at the elastin locus. Deletion demonstrable by FISH is the hallmark of Williams syndrome, whereas the mutations reported so far in SVAS have been more subtle. FISH positive elastin hemizygosity has not been reported in isolated SVAS. This report records our experience of FISH for elastin deletion in isolated SVAS and specifically reports a patient with non-Williams related SVAS, positive for the elastin deletion by FISH.
MINOR MESH HEADINGS: Adolescence-; Alleles-; Aortic-Valve-Stenosis-complications; In-Situ-Hybridization,-Fluorescence; Williams-Syndrome-complications; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Elastin-genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 97284078
UPDATE CODE: 199710
Record 190 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Language and Williams syndrome: how intact is "intact"?
AUTHOR(S): Karmiloff-Smith-A; Grant-J; Berthoud-I; Davies-M; Howlin-P; Udwin-O
ADDRESS OF AUTHOR: MRC-CDU, London, U.K. annette@cdu.ucl.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Child-Dev. 1997 Apr; 68(2): 246-62
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-3920
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: It has been claimed that Williams syndrome (WS), a rare neurodevelopmental disorder, is characterized by serious cognitive deficits alongside intact language. The syndrome is often used as a prime example of the modularity of an innate faculty for morphosyntactic rules. We challenge this claim and hypothesize that morphosyntax, although surprisingly good given WS level of mental retardation, is by no means intact. We make an initial test of this hypothesis through an analysis of the receptive language of a group of English-speaking WS individuals on a standardized morphosyntactic test. We then present an experimental study of expressive language that examines grammatical gender assignment in French-speaking WS patients. Despite a Verbal Mental Age selected to be higher than the chronological age of the young control group, these people with WS continue even in adulthood to show clear-cut deficits in their production of an aspect of morphosyntax that normal children acquire effortlessly very early. The results of the 2 studies, one focusing on receptive language and the other on expressive language, challenge the notion that comprehension and use of morphosyntactic rules in WS individuals are intact. The Within-domain dissociations regarding the use of grammatical gender assignment across several sentence clements and their difficulties in understanding embedded sentences-two quintessentially linguistic skills-suggest that we must rethink the notion of spared, modular, language capacities in Williams syndrome. We conclude that WS language follows a different path to normal acquisition and may turn out to be more like second language learning.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Language-Development-Disorders-psychology; Language-Tests; Mental-Retardation-diagnosis; Mental-Retardation-psychology; Pattern-Recognition,-Visual; Reference-Values; Semantics-; Vocabulary-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Language-Development-Disorders-diagnosis; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97323607
UPDATE CODE: 199709
Record 191 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Chromosome abnormalities in congenital heart disease.
AUTHOR(S): Johnson-MC; Hing-A; Wood-MK; Watson-MS
ADDRESS OF AUTHOR: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Jun 13; 70(3): 292-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Refinements in cytogenetic techniques have promoted progress in understanding the role that chromosome abnormalities play in the cause of congenital heart disease. To determine if mutations at specific loci cause congenital heart disease, irrespective of the presence of other defects, and to estimate the prevalence of chromosome abnormalities in selected conotruncal cardiac defects, we reviewed retrospectively cytogenetic and clinical databases at St. Louis Children's Hospital. Patients with known 7q11.23 deletion (Williams syndrome), Ullrich-Turner syndrome (UTS), and most autosomal trisomies were excluded from this analysis. Two groups of patients were studied. Over a 6.5-year period, 57 patients with chromosomal abnormalities and congenital heart disease were identified. Of these, 37 had 22q11 deletions; 5 had abnormalities of 8p; and 15 had several other chromosome abnormalities. The prevalence of chromosome abnormalities in selected conotruncal or aortic arch defects was estimated by analysis of a subgroup of patients from a recent 22-month period. Chromosome abnormalities were present in 12% of patients with tetralogy of Fallot, 26% in tetralogy of Fallot/pulmonary atresia, 44% in interrupted aortic arch, 12% in truncus arteriosus, 5% in double outlet right ventricle, and 60% in absent pulmonary valve. We conclude that chromosome analysis should be considered in patients with certain cardiac defects. Specifically, fluorescent in situ hybridization (FISH) analysis of 22q11 is indicated in patients with conotruncal defects or interrupted aortic arch. High resolution analysis should include careful evaluation of the 8p region in patients with either conotruncal or endocardial cushion defects.
MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-22; In-Situ-Hybridization,-Fluorescence; Prevalence-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Heart-Defects,-Congenital-genetics
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97332435
UPDATE CODE: 199709
Record 192 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cloning and biochemical characterization of LIMK-2, a protein kinase containing two LIM domains.
AUTHOR(S): Smolich-B; Vo-M; Buckley-S; Plowman-G; Papkoff-J
ADDRESS OF AUTHOR: SUGEN, Inc, Redwood City, CA 94063, USA. beverly@sugen.sf.ca.us
SOURCE (BIBLIOGRAPHIC CITATION): J-Biochem-Tokyo. 1997 Feb; 121(2): 382-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-924X
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: We have isolated human and rat clones of the LIM motif-containing protein kinase, termed LIMK-2. LIMK-2 is related to the neuronally expressed LIM-kinase, whose hemizygous deletion appears to result in cognitive impairment in patients with Williams syndrome. The hallmark of this protein family is the presence of 1 or 2-terminal LIM motifs and an atypical C-terminal protein kinase domain. LIMK-2 mRNA was detected by Northern blot analysis in human tissues, most abundantly in placenta, lung, liver, and pancreas, and also in a variety of cell lines including neuronal, glioblastoma, and mammary carcinoma lines. The LIMK-2 transcript was also induced upon neuroectodermal differentiation of mouse P19 embryonal carcinoma cells. A 65 kDa recombinant LIMK-2 protein was identified in 293 cells stably transfected with a LIMK-2 expression vector. An in vitro kinase assay demonstrates LIMK-2 is autophosphorylated and exhibits serine/threonine kinase activity towards the exogenous substrate MBP. The endogenous 65 kDa LIMK-2 protein was detected in a variety of cell lines, and coprecipitates with a 140 kDa tyrosine phosphorylated protein, but was not itself tyrosine phosphorylated. At the subcellular level, LIMK-2 is localized in both the nucleus and in a Triton X-100 soluble fraction.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Blotting,-Northern; Cell-Line; Cell-Nucleus-chemistry; Cloning,-Molecular; DNA,-Complementary-chemistry; Mice-; Molecular-Sequence-Data; Phosphoproteins-chemistry; Phosphoproteins-metabolism; Protein-Kinases-chemistry; Rats-; RNA,-Messenger-metabolism; Solubility-
MAJOR MeSH HEADINGS: *Protein-Kinases-genetics
CHECKTAGS: Animal; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37; 0; 0; 0
NAME OF SUBSTANCE: LIMK-2-protein; Protein-Kinases; DNA,-Complementary; Phosphoproteins; RNA,-Messenger
MEDLINE ACCESSION NUMBER: 97244640
UPDATE CODE: 199709
Record 193 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Aortic stenosis in children: 19-year experience.
AUTHOR(S): Liu-CW; Hwang-B; Lee-BC; Lu-JH; Meng-LC
ADDRESS OF AUTHOR: Department of Pediatrics, Veterans General Hospital-Taipei, Taiwan, R.O.C.
SOURCE (BIBLIOGRAPHIC CITATION): Chung-Hua-I-Hsueh-Tsa-Chih-Taipei. 1997 Feb; 59(2): 107-13
INTERNATIONAL STANDARD SERIAL NUMBER: 0578-1337
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: TAIWAN
ABSTRACT: BACKGROUND: In the Taiwanese literature, few articles describe the pertinent features of aortic stenosis (AS). This study explores the features of AS in Chinese children. METHODS: 3808 children with congenital heart diseases have undergone cardiac catheterization at our institution over the past 19 years. Among them, 51 (1.3%) cases were AS. The clinical, electrocardiographic, echocardiographic and catheterization findings, the methods of treatment and outcomes were reviewed. RESULTS: Valvular AS occurred in 39 children (76.5%), subvalvular AS in 5 (9.8%), and supravalvular AS in 7(13.7%). Male was predominant (M/F ratio, 2.6) except in supravalvular type. Forty-three patients had associated cardiovascular defects. Aortic regurgitation (AR) was the most common one. Most patients (56.9%) were asymptomatic. Classic symptoms included exertional dyspnea (17.6%), syncope (9.8%), and chest pain (7.8%), etc. Left ventricular hypertrophy was noted in 31.2% of cases. The mean duration of follow-up was 3.9 +/- 3.4 years. Ten patients received open-heart surgery and 2 received balloon dilation. The pressure gradients across the stenotic area dropped from 95.3 +/- 29.3 to 51.4 +/- 35.8 and 53.1 +/- 12.3 mm Hg in early and late Doppler follow-up studies, respectively (p < 0.05). The average gradient increased from 36.9 +/- 25.3 to 40.8 +/- 32.6 mm Hg in nonsurgical patients. The result was insignificant. No mortality occurred following open-heart surgery. One child expired due to heart failure after the ligation of the patent ductus arteriosus and dilation of the stenotic aortic valve on the surgical table under general anesthesia. Autopsy revealed valvular rupture. In the nonsurgical group, no mortality occurred, but one patient was brought home by parents in critical condition and later died. CONCLUSIONS: We found that some clinical features of AS in Chinese children were different from those in occidental populations. (1) The incidence of AS was relatively low. (2) Subvalvular AS was the least common type in contrast to supravalvular AS in western studies. (3) Male predominance was not present in the supravalvular type, which lacked sexual proclivity. (4) Williams syndrome was a more frequently associated anomaly. Turner syndrome was not present in our study. (5) Isolated AS was less frequent. (6) The unusual finding such as right ventricular hypertrophy on EKG was present due to associated cardiac anomalies. Open-heart surgery is effective and safe, but the efficacy of balloon dilation requires further investigation.
MINOR MESH HEADINGS: Adolescence-; Age-of-Onset; Aortic-Valve-Stenosis-diagnosis; Aortic-Valve-Stenosis-surgery; Child-; Child,-Preschool; Electrocardiography-; Follow-Up-Studies; Heart-Catheterization; Hemodynamics-; Infant-; Infant,-Newborn; Morbidity-; Sex-Factors; Taiwan-epidemiology; Time-Factors
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-epidemiology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97318373
UPDATE CODE: 199709
Record 194 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Behavioural phenotypes and family stress in three mental retardation syndromes.
AUTHOR(S): Sarimski-K
ADDRESS OF AUTHOR: Kinderzentrum, Munchen, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): Eur-Child-Adolesc-Psychiatry. 1997 Mar; 6(1): 26-31
INTERNATIONAL STANDARD SERIAL NUMBER: 1018-8827
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: The behavioural phenotype of 30 fragile-X, 35 Prader-Willi and 35 Williams-Beuren syndrome children was explored using a psychometric approach. Results confirmed some distinct behaviours as syndrome-specific, but revealed a high degree of within-syndrome variability and overlap between syndromes as well. Parental stress was high in each of the groups, but was mediated by maternal dissatisfaction with family relationships. A multimethod approach with detailed syndrome-specific observations is recommended for further research.
MINOR MESH HEADINGS: Child-; Child-Behavior-Disorders-psychology; Child,-Preschool; Cost-of-Illness; Fragile-X-Syndrome-psychology; Infant-; Mental-Retardation-psychology; Personality-Assessment-statistics-and-numerical-data; Phenotype-; Prader-Willi-Syndrome-psychology; Psychometrics-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Child-Behavior-Disorders-genetics; *Fragile-X-Syndrome-genetics; *Mental-Retardation-genetics; *Prader-Willi-Syndrome-genetics; *Stress,-Psychological-complications; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97266250
UPDATE CODE: 199709
Record 195 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Aortic stiffness with the Williams-Beuren syndrome [letter]
AUTHOR(S): Wessel-A; Pankau-R; Berdau-W; Lons-P
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Cardiol. 1997 May-Jun; 18(3): 244
INTERNATIONAL STANDARD SERIAL NUMBER: 0172-0643
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Elasticity-; Infant-; Reference-Values; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Aorta,-Thoracic-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: LETTER
MEDLINE ACCESSION NUMBER: 97287930
UPDATE CODE: 199709
Record 196 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.
AUTHOR(S): Castorina-P; Selicorni-A; Bedeschi-F; Dalpra-L; Larizza-L
ADDRESS OF AUTHOR: Department of Biology and Genetics, Medical Faculty, University of Milan, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 Mar 3; 69(1): 107-11
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: We report on two sets of monozygotic (MZ) twins with Williams syndrome (WS), following the 6 pairs already reported in the literature. We have confirmed monozygosity of both pairs of twins by DNA microsatellite analysis and the clinical diagnosis by fluorescence in situ hybridization using a WS-specific probe. Analysis of the concordance of different clinical signs between members of each pair of twins benefitted from a lengthy clinical follow-up, from 24 months to 7 years in one pair, and from the age of 15 years with reevaluation after 2 years in the other pair. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant, but the degree differed slightly between twins in each pair. Inguinal hernia was present in a single twin in pair 1. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only one twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; DNA,-Satellite; Follow-Up-Studies; Genotype-; Microsatellite-Repeats; Phenotype-; Polymorphism-Genetics; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Twins,-Monozygotic; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: DNA,-Satellite
MEDLINE ACCESSION NUMBER: 97219603
UPDATE CODE: 199708
Record 197 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Independence and adaptive behavior in adults with Williams syndrome.
AUTHOR(S): Davies-M; Howlin-P; Udwin-O
ADDRESS OF AUTHOR: School of Psychology, Queen's University of Belfast, Northern Ireland.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1997 May 16; 70(2): 188-95
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: This study describes the adjustment of 70 adults with Williams syndrome, in terms of self-help skills, independence, and occupational levels. Although the overall mean IQ of the group (62.00) was within the mild mental handicap range, relatively few individuals were able to attain a high level of independence or cope with the demands of employment. Adaptive behavior scores were significantly below chronological age. Outcome measures were compared with available data on other groups of adults of similar age and level of intellectual impairment. Implications for the community care of adults with Williams syndrome are discussed.
MINOR MESH HEADINGS: Adolescence-; Adult-; Communication-; Employment-psychology; Intelligence-; Self-Care-psychology; Socialization-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Activities-of-Daily-Living; *Adaptation,-Psychological; *Employment-; *Williams-Syndrome-rehabilitation
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97275047
UPDATE CODE: 199708
Record 198 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A tetranucleotide repeat polymorphism within the human elastin gene (ELNi1).
AUTHOR(S): Urban-Z; Csiszar-K; Fekete-G; Boyd-CD
ADDRESS OF AUTHOR: Department of Surgery, UMDNJ-Robert Wood Johnson Medical School, New Brunswick, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Genet. 1997 Feb; 51(2): 133-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9163
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: DENMARK
MINOR MESH HEADINGS: Aortic-Valve-Stenosis-genetics; Gene-Frequency; Homozygote-; Pedigree-; Polymerase-Chain-Reaction; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Elastin-genetics; *Genetic-Markers; *Microsatellite-Repeats; *Polymorphism-Genetics
CHECKTAGS: Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HL37438HLNHLBI
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 97266212
UPDATE CODE: 199708
Record 199 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Extended aortoplasty for supravalvular aortic stenosis with Williams syndrome]
AUTHOR(S): Nagasaka-S; Taniguchi-S; Kawata-T; Mizuguchi-K; Kawachi-K; Kitamura-S
ADDRESS OF AUTHOR: Department of Surgery III, Nara Medical College, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nippon-Kyobu-Geka-Gakkai-Zasshi. 1997 Apr; 45(4): 601-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0369-4739
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: We report a male case of supravalvular aortic stenosis associated with Williams syndrome requiring surgery at age 11. At 5 years of age, this boy presented with a harsh systolic heart murmur and was diagnosed as having a supravalvular aortic stenosis. In association with mental retardation, elfin face and bilateral inguinal hernias, he was diagnosed as a Williams syndrome confirmed by the chromosomal analysis revealing the deletion of 7q11.23. The pressure gradient across the stenotic lesion of the ascending aorta, which had been 35 mmHg at age 5, progressed to 80 mmHg at age 11 years. Extended aortoplasty was performed using a patch of 20 mm Hemashield graft prosthesis. Postoperative cardiac catheterization confirmed that the pressure gradient in the ascending aorta completely disappeared following surgery.
MINOR MESH HEADINGS: Aortic-Valve-Stenosis-complications; Child-; Chromosome-Deletion; Chromosomes,-Human,-Pair-7; English-Abstract; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Aorta-surgery; *Aortic-Valve-Stenosis-surgery; *Blood-Vessel-Prosthesis; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97300020
UPDATE CODE: 199708
Record 200 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [A successful surgical repair of total anomalous pulmonary venous connection associated with Williams syndrome]
AUTHOR(S): Shimamoto-T; Ikeda-T; Koshiji-T; Nishimura-K; Nomoto-S; Matsuda-K; Ban-T
ADDRESS OF AUTHOR: Department of Cardiovascular Surgery, School of Medicine, Kyoto University, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Kyobu-Geka. 1997 May; 50(5): 405-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0021-5252
PUBLICATION YEAR: 1997
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: The surgical correction was performed successfully in a 14-year-old boy with total anomalous pulmonary venous connection (type Ia) associated with Williams syndrome. The diagnosis was made at the age of 3 and he had been well until the age of 13 when sudden chordal rupture caused severe mitral regurgitation and supraventricular tachyarrhythmia. The operational procedure includes common pulmonary vein and left atrium anastomosis through Gersony-Malm approach, chordal reconstruction of mitral valve with 4-0 Core Tex sutures. His postoperative course has been well without the sign of venous obstruction. As far as we know, this is the first documentation of a case of Williams syndrome associated with total anomalous pulmonary venous connection.
MINOR MESH HEADINGS: Adolescence-; English-Abstract
MAJOR MeSH HEADINGS: *Pulmonary-Veins-abnormalities; *Pulmonary-Veins-surgery; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 97282292
UPDATE CODE: 199707