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Record 1[Magnetic resonance features of supravalvular aortic stenosis in William's syndrome. Report of 2 cases] Aspetti con Risonanza Magnetica della stenosi sopravalvolare aortica nella sindrome di Williams. Descrizione di due casi. Di Cesare E; Sabatini M; Splendiani A; Masciocchi C Cattedra di Radiologia, Universita degli Studi, L'Aquila. Radiol Med (Torino) (ITALY) Jul-Aug 1998, 96 (1-2) p113-5, ISSN 0033-8362 Languages: ITALIAN Document type: JOURNAL ARTICLE
Record 2Periodic limb movement in sleep in children with Williams syndrome. Arens R; Wright B; Elliott J; Zhao H; Wang PP; Brown LW; Namey T; Kaplan P Division of Pulmonary Medicine, Children's Hospital of Philadelphia, PA 19104-4399, USA. J Pediatr (UNITED STATES) Nov 1998, 133 (5) p670-4, ISSN 0022-3476 Languages: ENGLISH Document type: JOURNAL ARTICLE
OBJECTIVE: Williams syndrome (WS) is associated with neurobehavioral abnormalities that include irritability and attention-deficit/hyperactivity disorder. Parents often report children having difficulties initiating and maintaining sleep because of restlessness and arousals. Therefore we evaluated a group of children with WS for the presence of a movement arousal sleep disorder. METHODS: Twenty-eight families of children with WS participated in a telephone survey aimed to screen for a movement arousal disorder. Of the 16 children identified as having such a disorder, 7 (mean age, 3.9 +/- 2.2 years) underwent polysomnography. Their studies were compared with those of 10 matched control subjects (mean age, 5.3 +/- 2.0 years). RESULTS: The 7 subjects with WS who were screened by the survey had sleep latency, total sleep time, arousals, and awakenings that were similar to those of control subjects. However, they presented with a disorder of periodic limb movement in sleep (PLMS). The PLMS index in the subjects with WS was 14.9 +/- 6.2 versus 2.8 +/- 1.9 in control subjects (P < .0001). In addition, arousal and awakening in subjects with WS were strongly associated with PLMS. Moreover, children with WS spend more time awake during sleep periods than control subjects (10.0% +/- 7.0% vs 4.4% +/- 4.7%; P < .05). Five children were treated with clonazepam, and in 4 a significant clinical response was noted. CONCLUSION: We report an association between WS and PLMS. Clonazepam may reduce the clinical symptoms of PLMS in some of these children.
Record 3[A surgical case of supravalvular aortic stenosis with severe hypoplastic ascending aorta (diffuse type) in Williams-Beuren syndrome] Uchita S; Fujiwara T; Matsuo K; Suetsugu F; Aotsuka H; Okajima Y Department of Cardiovascular Surgery, Chiba Children's Hospital, Japan. Nippon Kyobu Geka Gakkai Zasshi (JAPAN) Sep 1998, 46 (9) p928-32, ISSN 0369-4739 Languages: JAPANESE Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
We report a six-year-old boy who underwent ascending aortic reconstruction for supravalvular aortic stenosis of diffuse type associated with Williams-Beuren syndrome. The diagnosis was first made at the age of six months. Because of progressive left ventricular hypertrophy, cardiac catheterization was performed at the age of five years and showed left ventricular pressure of 200 mmHg, the ascending aortic pressure of 202 mmHg, the descending aortic pressure of 115 mmHg, and left ventricular end-diastolic volume of 33.5 ml (90% of normal). Whole ascending aorta except sinus Valsalva was severely hypoplastic, so called diffuse type of supravalvular aortic stenosis. The ascending aorta was only 6.3 mm in diameter, whereas the diameter of the aortic annulus was 20.6 mm. The ascending aortic reconstruction of Doty's type was performed from the aortic root to the distal aortic arch with a equine pericardium reinforced by Dacron velour using selective perfusion to the right bracheocepharic artery, the left common carotid artery and the right femoral artery to avoid circulatory arrest. Postoperative course was uneventful and post operative catheterization revealed left ventricular pressure of 128 mmHg, the ascending aortic pressure of 126 mmHg and the descending aortic pressure of 90 mmHg. Mild residual pressure gradient was probably due to hypoplastic descending aorta. In conclusion, patch aortic reconstruction for ascending aorta under selective cerebral perfusion for a six-year old boy can be performed without postoperative neurological complication.
Record 4A novel human gene FKBP6 is deleted in Williams syndrome. Meng X; Lu X; Morris CA; Keating MT Howard Hughes Medical Institute, University of Utah, Salt Lake City, Utah, 84112, USA. Genomics (UNITED STATES) Sep 1 1998, 52 (2) p130-7, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a developmental disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis. We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. Here we identify and characterize a novel gene, FKBP6, within the common WS deletion region. FKBP6 shows homology to the FK-506 binding protein (FKBP) class of immunophilins. FKBP6 has a putative N-terminal FK-506 binding and peptidylproyl isomerase (rotamase) domain and, like known high-molecular-weight FKBPs, an imperfect C-terminal tetratricopeptide repeat domain. FKBP6 is expressed in testis, heart, skeletal muscle, liver, and kidney. FKBP6 consists of nine exons and is completely contained within a 35-kb cosmid clone. Fluorescence in situ hybridization experiments show that FKBP6 gene is deleted in 40/40 WS individuals. Hemizygous deletion of FKBP6 may contribute to certain defects such as hypercalcemia and growth delay in WS. Copyright 1998 Academic Press.
Record 5Reading the windows to the soul: evidence of domain-specific sparing in Williams syndrome. Tager-Flusberg H; Boshart J; Baron-Cohen S The Shriver Center, Department of Behavioral Sciences, Waltham, MA 02154, USA. [email protected] J Cogn Neurosci (UNITED STATES) Sep 1998, 10 (5) p631-9, ISSN 0898-929X Languages: ENGLISH Document type: JOURNAL ARTICLE
This study tested the hypothesis that Williams syndrome, a rare genetic neurodevelopmental disorder with an unusual cognitive phenotype, involves spared abilities in the domain of understanding other minds. A group of retarded adults with Williams syndrome was compared to an age-, IQ-, and language-matched group of adults with Prader-Willi syndrome, another genetic disorder without the cognitive characteristics of Williams syndrome, and a group of age-matched normal adults, on a task that taps mentalizing ability. The task involved selecting the correct labels to match photographs of complex mental state expressions in the eye region of the face. The adults with Williams syndrome performed significantly better than the adults with Prader-Willi on this task, and about half the group performed in the same range as the normal adults. These findings are consistent with anecdotal evidence about Williams syndrome and provide evidence that mentalizing is a distinct cognitive domain. This spared cognitive capacity may be linked to the relative sparing of limbic-cerebellar neural substrate in Williams syndrome, which is also connected to cortico-frontal regions that are known to be involved in understanding complex mental states.
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