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Record 1[Neuro-urological findings in Williams syndrome: report of a case] Achados neuro-urologicos da sindrome de Williams: relato de caso. Tobias-Machado M; Marinelli CM; Sakuramoto PK; Spinola RT; Borrelli Junior M; Freire G de C; Borrelli M Servico de Urologia, Hospital Indianopolis (HI), Sao Paulo. Arq Neuropsiquiatr (BRAZIL) Sep 1998, 56 (3B) p683-7, ISSN 0004-282X Languages: PORTUGUESE Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
The Williams syndrome is a relatively rare disease with characteristic facial appearance, mental retardation, growth deficiency, cardiovascular anomalies, hypercalcemia and multiple organic dysfunctions. However, the urological findings of this syndrome (positive in up to 40% of patients) have not been frequently discussed. We present the case of a 6 year-old white girl with this diagnosis and a 3-year history of urinary incontinence. The investigation revealed bladder diverticula and detrusor hyperactivity, which was successfully treated with oxibutimin. We stress the importance of urological investigation, describe the main findings and discuss the pathophysiology and management, which significantly improves the quality of life of these children.
Record 2Observer reliability in grading nephrocalcinosis on ultrasound examinations in children. Dick PT; Shuckett BM; Tang B; Daneman A; Kooh SW Paediatric Research Outcomes Team, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Pediatr Radiol (GERMANY) Jan 1999, 29 (1) p68-72, ISSN 0301-0449 Languages: ENGLISH Document type: JOURNAL ARTICLE
BACKGROUND: Nephrocalcinosis is often associated with a variety of hypercalcemic conditions. Diagnostic ultrasound is often used for assessing nephrocalcinosis in children, but its reliability has not been proven. OBJECTIVE: To determine the reliability of expert interpretation of sonographic films with a grading scale of severity for nephrocalcinosis. MATERIALS AND METHODS: Fifty-eight ultrasonographic films of 30 children with Williams syndrome and other conditions know to be associated with nephrocalcinosis were assessed. We used a blinded randomized design to assess intra- and interobserver reliability. RESULTS: Grades I, II, and III nephrocalcinosis were noted in 13 %, 19 %, and 27 % of the examinations, respectively. The weighted kappa coefficient was 0.80 (standard error 0.12; 95 % confidence interval 0.68-0.92) for intraobserver agreement and 0.76 (standard error 0.13; 95 % confidence interval 0.63 to 0.89) for interobserver agreement. Reliability in assessing change from one examination to the next, with independently graded films, was fair with an unweighted kappa coefficient of 0.68 (95 % confidence interval 0.38-0.96) and 0.51 (95 % confidence interval 0.21-0.80) for intra- and interobserver reliability, respectively. CONCLUSION: The severity of nephrocalcinosis can be reliably interpreted with an ultrasonography grading scale.
Record 3Familial Williams-Beuren syndrome. Ounap K; Laidre P; Bartsch O; Rein R; Lipping-Sitska M Medical Genetics Center, Tartu University Children's Hospital, Estonia. [email protected] Am J Med Genet (UNITED STATES) Dec 28 1998, 80 (5) p491-3, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He had a deletion of 7q11.23 at the ELN locus. The mother was diagnosed after the identification of WBS in her affected son. She is deceased and was thus not studied by FISH. However, her combined symptoms make it very clear that she had WBS. Two traits uncommon in WBS were observed, unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son.
Record 4Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Tassabehji M; Metcalfe K; Karmiloff-Smith A; Carette MJ; Grant J; Dennis N; Reardon W; Splitt M; Read AP; Donnai D University Department of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom. [email protected]. Am J Hum Genet (UNITED STATES) Jan 1999, 64 (1) p118-25, ISSN 0002-9297 Languages: ENGLISH Document type: JOURNAL ARTICLE
In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in WS are ELN (which encodes elastin), LIMK1 (which encodes a protein tyrosine kinase expressed in the developing brain), STX1A (which encodes a component of the synaptic apparatus), and FZD3. Study of patients with deletions or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiological features of WS. LIMK1 and STX1A are good candidates for cognitive or behavioral aspects of WS. Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region. Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.
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