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Record 1Enlarged cerebellar vermis in Williams syndrome. Schmitt JE; Eliez S; Warsofsky IS; Bellugi U; Reiss AL Stanford Psychiatry Neuroimaging Laboratory, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, 94305-5719, Stanford, CA, USA Journal of psychiatric research (England) Jul-Aug 2001, 35 (4) p225-9, ISSN 0022-3956 Languages: ENGLISH Document type: Journal Article Record type: In Process
Williams syndrome (WMS) is a rare genetic disorder characterized by relative preservations of language ability and facial processing despite deficits in overall intelligence, problem solving, and visuospatial processing. Subjects with WMS also display hypersocial behavior and excessive linguistic affect during conversations and when giving narratives. Neuroimaging studies have shown global reductions in the brain volumes of subjects with WMS compared with normal controls, but with preservations in cerebellar volume. This study examines the neuroanatomic structure of the cerebellar vermis in 20 subjects with WMS and 20 age- and gender-matched controls via high-resolution magnetic resonance imaging. The vermis was divided into lobules I-V, VI-VII, and VIII-X. Lobules VI-VII and VIII-X were both relatively enlarged in the WMS group, and after adjusting for the smaller size of the WMS brain, the posterior vermis was significantly larger in WMS (Mann-Whitney z-value=4.27; P<0.001). Given that reductions in posterior vermis size have been implicated in flattened affect and autistic features, increased vermis size in subjects with WMS may be related to the hypersociality and heightened affective expression characteristic of individuals with this genetic condition. Record Date Created: 20011001
Record 2Supporting communication in young children with developmental disabilities. Kaiser AP; Hester PP; McDuffie AS Department of Special Education, Box 328 Peabody, Vanderbilt University, Nashville, TN 37203, USA. [email protected] Mental retardation and developmental disabilities research reviews ( United States) 2001, 7 (2) p143-50, ISSN 1080-4013 Languages: ENGLISH Document type: Journal Article; Review; Review, Tutorial Record type: Completed
The behavior of parents, adult caregivers, and peers comprises the critical features of community support for the development of communication in young children with developmental disabilities. In a bio-ecological model of development, communication development is the result of the interactions of individuals with specific characteristics, in particular contexts over time. From the perspective of this model, foundational findings of intervention research to current views of communication development in children with developmental disabilities are summarized. The contributions of individual child characteristics to child-caregiver interactions that support language development are illustrated based on research with children who have autism, Williams syndrome, Down syndrome, and children who use augmentative communication systems. Parent-child interaction and the quality and quantity of parent talk are discussed as factors in children's language development. The effects of young children's delayed language on their interactions with peers, the contributions of peers to children's language learning and use, and the critical features of classroom settings that support child language development are reviewed. MRDD Research Reviews 7:143-150, 2001. Copyright 2001 Wiley-Liss, Inc. (82 Refs.) Record Date Created: 20010604
Record 3Williams syndrome and deficiency in visuospatial recognition. Nakamura M; Watanabe K; Matsumoto A; Yamanaka T; Kumagai T; Miyazaki S; Matsushima M; Mita K Institute for Developmental Research, Aichi Human Service Centre, Kasugai, Japan. [email protected] Developmental medicine and child neurology (England) Sep 2001, 43 (9) p617-21, ISSN 0012-1622 Languages: ENGLISH Document type: Journal Article Record type: In Process
This study aimed to assess the visuospatial abilities of five children with Williams syndrome (four males aged 9 years 3 months, 7 years 11 months, 8 years 1 month, and 10 years 8 months respectively, and one female aged 6 years 3 months). First, the children's visuospatial abilities were examined by asking them to copy a figure. Second, their cognitive processing abilities were assessed using the Japanese Kaufman Assessment Battery for Children. This test was used because it is an objective one, standardized in Japan, and is a measure of fluid ability including spatial localization. Participants scored significantly low on the spatial memory subtest indicating that there was a deficit in spatial localization. Children's performance in line copying tasks improved when the dots were in colour. Results suggest a deficit in the dorsal stream of visual cognition, with a relatively preserved ventral stream. Record Date Created: 20010925
Record 4Evaluation of arterial stiffness in children with Williams syndrome: Does it play a role in evolving hypertension? Salaymeh KJ; Banerjee A Children's Hospital Medical Center, Cincinnati, Ohio, USA. American heart journal (United States) Sep 2001, 142 (3) p549-55, ISSN 0002-8703 Languages: ENGLISH Document type: Journal Article Record type: Completed
BACKGROUND: Pathologic studies and surgical observations of thickened aortic walls have suggested an increase in aortic stiffness in patients with Williams syndrome. However, in vivo objective evaluation of aortic and arterial stiffness in Williams syndrome are lacking. Moreover, systemic hypertension, although prevalent in Williams syndrome, does not have a well-defined mechanism in this syndrome. Therefore, the purpose of this study was to quantitate aortic stiffness and arterial compliance in an objective manner, as well as to determine their roles in development of hypertension, in children with Williams syndrome. METHODS: We studied 13 patients with Williams syndrome (aged 3-12 years) and 16 age-matched control subjects. Aortic stiffness was calculated from the beta index as follows: beta = (ln[P(s)/P(d)])/ ([D(s) - D(d)]/D(d)), where P(s) and P(d) are systolic and diastolic blood pressures and D(s) and D(d) are systolic and diastolic aortic dimensions, respectively. Arterial compliance (C) was calculated by the area method: C= (A(d) x CO x CL) / (A(t) x [P(es) - P(d)]), where A(t) is the total area and A(d) is the area under the diastolic portion of the arterial pulse tracing, CO is the cardiac output, CL is the cycle length, and P(es) is aortic end-systolic pressure. RESULTS: In patients with Williams syndrome, the beta index was 2-fold higher than in control patients (9.02 +/- 3.15 vs 4.43 +/- 0.96, P <.005). Moreover, there was a strong positive correlation between the beta index and the systolic blood pressure (r = 0.8 and P <.0001). Compliance was decreased by 42% (0.41 +/- 0.11 vs 0.71 +/- 0.10 mL/mm Hg, P <.05), suggesting decreased arterial compliance. CONCLUSIONS: Our study indicates that in vivo arterial stiffness is increased in patients with Williams syndrome. We speculate that increased arterial stiffness may be the predisposing cause of systemic hypertension in Williams syndrome. Record Date Created: 20010829
Record 5NoRC--a novel member of mammalian ISWI-containing chromatin remodeling machines. Strohner R; Nemeth A; Jansa P; Hofmann-Rohrer U; Santoro R; Langst G; Grummt I Division of Molecular Biology of the Cell II, Deutsches Krebsforschungszentrum, D-69120 Heidelberg and Adolf-Butenandt-Institut, Schillerstrasse 44, D-80336 Munchen, Germany. EMBO journal (England) Sep 3 2001, 20 (17) p4892-900, ISSN 0261-4189 Languages: ENGLISH Document type: Journal Article Record type: In Process
Transcription by RNA polymerase I on nucleosomal templates requires binding of the transcription termination factor TTF-I to a cognate site 160 bp upstream of the transcription start site. Binding of TTF-I is accompanied by changes in the chromatin architecture which suggests that TTF-I recruits a remodeling activity to the rDNA promoter. We have cloned a cDNA that encodes TIP5 (TTF-I-interacting protein 5), a 205 kDa protein that shares a number of important protein domains with WSTF (Williams syndrome transcription factor) and hAcf1/WCRF180, the largest subunits of human chromatin remodeling complexes hCHRAC and WCRF. TIP5 co-localizes with the basal RNA polymerase I transcription factor UBF in the nucleolus and is associated with SNF2h. The cellular TIP5-SNF2h complex, termed NoRC (nucleolar remodeling complex), induces nucleosome sliding in an ATP- and histone H4 tail-dependent fashion. The results suggest that NoRC is a novel nucleolar chromatin remodeling machine that may serve a role in the regulation of the rDNA locus. Record Date Created: 20010904
Record 6[Effective use of electrolized soft acid aqueous solution for treatment of mediastinitis following cardiac surgery] Honma Y; Koshino T; Komatsu K; Tsukamoto M; Abe T Department of Thoracic and Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan. Kyobu geka (Japan) Sep 2001, 54 (10) p839-41, ISSN 0021-5252 Languages: JAPANESE Document type: Journal Article Record type: In Process
Mediastinitis following cardiac surgery occurs infrequently, but features both high mortality and morbidity, especially in patients with an artificial graft. A 24-year-old man was admitted with a diagnosis of Williams'syndrome with supraaortic stenosis. After ascending aorta and hemiarch reconstruction, mediastinitis developed, which was treated successfully with mediastinal irrigation using electrolized soft acid aqueous solution at one liter per day for 3 days. This procedure appears to be an effective method for treatment of mediastinitis following cardiac surgery. Record Date Created: 20010913
Record 7Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome. Wouters CH; Meijers-Heijboer HJ; Eussen BJ; van der Heide AA; van Luijk RB; van Drunen E; Beverloo BB; Visscher F; Van Hemel JO Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands. [email protected] American journal of medical genetics (United States) Aug 15 2001, 102 (3) p261-5, ISSN 0148-7299 Languages: ENGLISH Document type: Journal Article Record type: Completed
We report on a patient with Williams syndrome and a complex de novo chromosome rearrangement, including microdeletions at 7q11.23 and 7q36 and additional chromosomal material at 7q36. The nature of this additional material was elucidated by spectral karyotyping and first assigned to chromosome 22. Subsequent fluorescence in situ hybridization (FISH) experiments showed that it consisted of satellite material only. Refinement of the 7q36 breakpoint was performed with several FISH probes, showing a deletion distal to the triphalangeal thumb (TPT) region. The phenotype of the patient principally results from the microdeletion of the 7q11.23; the small deletion at 7qter and the extra satellite material may not be of clinical significance. Copyright 2001 Wiley-Liss, Inc. Record Date Created: 20010802
Record 8Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis. St Heaps L; Robson L; Smith A American journal of medical genetics (United States) Jan 1 2001, 98 (1) p109-11, ISSN 0148-7299 Journal Code: 3L4 Languages: ENGLISH Document type: Letter Record type: Completed Record Date Created: 20010627
Record 9[Williams syndrome] Kondo I Department of Hygiene, Ehime University School of Medicine. Ryoikibetsu shokogun shirizu (Japan) 2001, (34 Pt 2) p810-2, Journal Code: CAY Languages: JAPANESE Document type: Journal Article Record type: In Process Record Date Created: 20010831
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