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Record 1Surgical angioplasty of the main coronary arteries in children. Bonnet D; Bonhoeffer P; Sidi D; Kachaner J; Acar P; Villain E; Vouhe PR Service de Cardiologie Pediatrique, Hopital Necker/Enfants Malades, Paris, France. J Thorac Cardiovasc Surg (UNITED STATES) Feb 1999, 117 (2) p352-7, ISSN 0022-5223 Languages: ENGLISH Document type: JOURNAL ARTICLE
OBJECTIVE: To determine the safety and efficacy of surgical angioplasty of the coronary arteries in children. METHODS: We performed 9 surgical reconstructions of the left main coronary artery and 1 of the right coronary artery ostium in 10 children (mean age 5.7 years; range 2 months- 15 years). The basic diseases included the following: congenital atresia of the left coronary artery (n = 2) and atresia of the right coronary artery in a patient with an aortoventricular tunnel (n = 1); stenosis of the left main coronary artery (1) in a patient with Williams syndrome (n = 1), (2) in a patient with familial hypercholesterolemia (n = 1), (3) after the arterial switch operation for transposition of the great arteries (n = 3), (4) after reimplantation of an anomalous left main coronary artery from the pulmonary artery (n = 1), and (5) by compression after a reparation a l'etage ventriculaire procedure (n = 1). Myocardial viability was assessed by single photon emission computed tomography (thallium 201; 7/10). The coronary artery stem was enlarged with a saphenous (n = 5), a pericardial (n = 4), or a polytetrafluoroethylene patch (n = 1). RESULTS: There was 1 hospital death and 9 patients are alive (mean follow-up 46 +/- 30 months; range 12 months to 10.5 years). Eight of 9 survivors had a selective coronary artery angiogram and had normal coronary artery ostia. Two patients had stenosis of the left anterior thoracic artery grafting. CONCLUSIONS: Surgical angioplasty of the coronary stems restores physiologic coronary perfusion and conserves bypass material. It can be performed safely in children and provides encouraging midterm results.
Record 2Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Paperna T; Peoples R; Wang YK; Kaplan P; Francke U Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA. Genomics (UNITED STATES) Dec 15 1998, 54 (3) p453-9, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder affecting multiple systems. Haploinsufficiency of genes deleted in chromosomal region 7q11.23 is the likely cause for this syndrome. We now report the localization of the genes for the CPE-R (Clostridium perfringens enterotoxin receptor, CPETR1) and the human homolog of RVP1 (rat ventral prostate 1 protein, CPETR2), both previously mapped to 7q11, to the WBS critical region. A single nucleotide polymorphism (SNP) present in CPETR1 has been identified and was used to determine parental origin of the deleted allele in five informative families. The mouse homologs Cpetr1 and Cpetr2 were identified and mapped to the conserved syntenic region on mouse chromosome 5. Northern blot analysis of CPETR1 demonstrates tissue specificity, with expression in kidney, lung, thyroid, and gastrointestinal tissues. In mouse, Cpetr1 is expressed in the early embryo, appears to be developmentally upregulated during gestation, and is present in adult tissues. Our results suggest a role for CPE-R in internal organ development and function during pre- and postnatal life. Copyright 1998 Academic Press.
Record 3FISH analysis in both classical and atypical cases of Williams-Beuren syndrome. Hou JW; Wang JK; Wang TR Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Chung Hua Min Kuo Hsiao Erh Ko I Hsueh Hui Tsa Chih (TAIWAN) Nov-Dec 1998, 39 (6) p398-403, ISSN 0001-6578 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder, characterized by distinct facial changes, growth deficiency, mental retardation, supravalvular aortic stenosis (SVAS)/peripheral pulmonary stenosis, and associated at times with infantile hypercalcemia. A pilot study has been carried out to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridization (FISH) analysis as a diagnostic test in both classical and atypical WBS. Eight subjects with classical WBS and four others in whom a diagnosis could not be confirmed on clinical criteria alone were enrolled. In the classical WBS group, five (5/8) had a visible interstitial 7q11.22-11.23 deletion detected by high-resolution banding, and all (8/8) had a submicroscopic deletion of the elastin locus on chromosome 7 by FISH analysis. In the atypical WBS group, only one (1/4) had elastin deletion. The other three, with isolated SVAS, had normal development and minimal signs of WBS. Furthermore, the patients with microscopic 7q11.22-11.23 deletion have more associated features of WBS than those without visible interstitial deletions by high-resolution banding. These results, therefore, emphasize the importance of a combined high-resolution and molecular cytogenetic (i.e., FISH) approach to diagnosis and suggest that the degree to which microscopic/submicroscopic deletions of chromosome 7 extending in beyond the elastin locus may explain some of the phenotypical variability found in WBS.
Record 4The BCL7 gene family: deletion of BCL7B in Williams syndrome. Jadayel DM; Osborne LR; Coignet LJA; Zani VJ; Tsui LC; Scherer SW; Dyer MJ Academic Hematology and Cytogenetics, The Institute of Cancer Research, Haddow Laboratories, Sutton, Surrey SM2 5NG, UK. Gene (NETHERLANDS) Dec 11 1998, 224 (1-2) p35-44, ISSN 0378-1119 Languages: ENGLISH Document type: JOURNAL ARTICLE
The BCL7A gene, which maps to human chromosome 12q24.13, was cloned through its direct involvement with MYC and IGH in a three-way translocation in a Burkitt lymphoma cell line. Here, we describe the identification of two related human genes, BCL7B and BCL7C, which share 90% identity to the amino-terminal 51 amino acids of human BCL7A, as well as 41% identity in the same region to Drosophila melanogaster, Caenorhabditis elegans, and Brugia malayi EST sequences. This degree of relatedness in the amino-terminal domain suggests we have defined a new gene family of unknown function. There was little sequence conservation between the family members outside this conserved domain and no identified protein motifs could be deduced. Human BCL7B and BCL7C mapped to chromosome 7q11.23, and 16p11, respectively. No chromosomal rearrangements affecting BCL7B or BCL7C were detected in lymphoid malignancies. BCL7B did, however, map within the region of 7q11.23 which is commonly deleted in the congenital disorder, Williams syndrome.
Record 5Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. Partsch CJ; Dreyer G; Gosch A; Winter M; Schneppenheim R; Wessel A; Pankau R Department of Pediatrics, Christian-Albrechts-University, Kiel, Germany. J Pediatr (UNITED STATES) Jan 1999, 134 (1) p82-9, ISSN 0022-3476 Languages: ENGLISH Document type: JOURNAL ARTICLE
OBJECTIVES: To establish syndrome-specific growth curves and growth rate (GR) curves for Williams syndrome (WS) and define the pattern of bone maturation and pubertal development. METHODS: In a prospective longitudinal study between 1990 and 1997, the growth data of 244 children with WS were collected: 295 values for GR were calculated for 74 girls and 331 values for 89 boys. RESULTS: Mean GR of children with WS was below normal by 1 to 2 cm/y in the first few years of life. One group of girls (n = 20) experienced an early pubertal growth spurt at age 9 years (maximal GR, 7.8 +/- 2.1 cm/y; menarcheal age, 10.4 +/- 1.4 years). A second group (n = 5) showed the growth spurt at age 11 years (7.5 +/- 1.1 cm/y; menarcheal age, 12.6 +/- 1.3 years). In boys, peak height velocity (8.7 +/- 2.3 cm/y) occurred at age 11 to 12 years. Bone age was delayed in both sexes during childhood and accelerated markedly during puberty. Final height was 152.4 +/- 5.7 cm in girls (n = 38) and 165.2 +/- 10. 9 cm in boys (n = 43). CONCLUSIONS: The syndrome-specific GR curves for WS showed a premature and abbreviated pubertal growth spurt in both sexes. This growth spurt was directly related to bone age acceleration during puberty. The data from this longitudinal study provide an overview of both the dynamics of growth and its course in children with WS.
Record 6[Reoperation for diffuse supravalvular aortic stenosis with Williams syndrome--extended patch aortoplasty and extra-anatomic bypass from the ascending aorta to the descending aorta in a median sternotomy] Kumada Y; Yasuda H; Sasaki E; Murakawa S; Mori Y; Hirose H First Department of Surgery, Gifu University, Japan. Nippon Kyobu Geka Gakkai Zasshi (JAPAN) Oct 1998, 46 (10) p1061-4, ISSN 0369-4739 E Languages: JAPANESE Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstrac
A case of diffuse supravalvular aortic stenosis (SVAS) with Williams syndrome is reported. In this case of severe diffuse SVAS, we performed the diamond-patch aortoplasty in a child. However he has been suffering from residual SVAS. At 9-years old, the myocardial injury was noted by myocardial scintigraphy. Preoperative cardiac catheterization and angiography revealed the hypoplastic ascending aorta and arch with a pressure gradient of 89 mmHg at the distal site from the left subclavian artery. Through only a median stenotomy, an extended patch aortoplasty between the valsalva sinus and distal arch was performed and an extraanatomic bypass from the ascending aorta to the descending aorta was employed using a 10 mm tube graft. We realize this technique is available because this method can relieve the left ventriculus of the pressure load and operate via only median sternotomy.
Record 7Adults with Williams syndrome [letter] Russell PS Br J Psychiatry (ENGLAND) Sep 1998, 173 p268-9, ISSN 0007-1250 Journal Code: B1K Languages: ENGLISH Document type: LETTER
Record 8Case report: essential iris atrophy in the Williams-Beuren syndrome. Salati R; Baraldi E; Giorda R Department of Pediatric Ophthalmology, Scientific Institute E. Medea (Lc), Italy. J Pediatr Ophthalmol Strabismus (UNITED STATES) Nov-Dec 1998, 35 (6) p336-7, ISSN 0191-3913 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 9Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Peoples RJ; Cisco MJ; Kaplan P; Francke U Department of Genetics, Stanford University School of Medicine, Stanford, California 94305-5323 (USA). Cytogenet Cell Genet (SWITZERLAND) 1998, 82 (3-4) p238-46, ISSN 0301-0171 Languages: ENGLISH Document type: JOURNAL ARTICLE We have identified a novel gene (WBSCR9) within the common Williams-Beuren syndrome (WBS) deletion by interspecies sequence conservation. The WBSCR9 gene encodes a roughly 7-kb transcript with an open reading frame of 1483 amino acids and a predicted protein product size of 170.8 kDa. WBSCR9 is comprised of at least 2 0 exons extending over 60 kb. The transcript is expressed ubiquitously throughout development and is subject to alternative splicing. Functional motifs identified by sequence homology searches include a bromodomain; a PHD, or C4HC3, finger; several putative nuclear localization signals; four nuclear receptor binding motifs; a polyglutamate stretch and two PEST sequences. Bromodomains, PHD motifs and nuclear receptor binding motifs are cardinal features of proteins that are involved in chromatin remodeling and modulation of transcription. Haploinsufficiency for WBSCR9 gene products may contribute to the complex phenotype of WBS by interacting with tissue-specific regulatory factors during development.
Record 10Knowledge enrichment and conceptual change in folkbiology: evidence from Williams syndrome. Johnson SC; Carey S University of Pittsburgh, PA 15260, USA. Cognit Psychol (UNITED STATES) Nov 1998, 37 (2) p156-200, ISSN 0010-0285 Languages: ENGLISH Document type: JOURNAL ARTICLE,
Ten participants with Williams syndrome (WS) (average verbal mental age of 11;5) were compared to two groups of normally developing children (average mental ages 10;11 and 6;7 years) with respect to intuitive biological knowledge about people, animals, and plants. Participants in the older control group were individually matched to the participants with WS on verbal mental age. The probes for biological understanding were drawn from the existing literature on the development of folkbiology and were divided into two batteries based on the hypothesized distinction of (1) general knowledge consistent with the conceptual repertoire of normally developing preschool children (the T1/T2-Neutral Animal Knowledge battery) and (2) folkbiological concepts normally acquired between ages 6 and 12 which require conceptual change for their construction (life, death, people-as-one-animal-among-many, species kind as determined by origin of the animal; the T2-Dependent battery). The two task batteries were equated for task demands, differing only in the content of the concepts probed. It was hypothesized that if this distinction is a false one, and the construction of folkbiology is accomplished entirely by enrichment of the preschooler's knowledge, there should never be a population with differential performance on these two batteries. People with WS were nonetheless found to be differentially impaired on the T2-Dependent battery. They performed at the level of the older control group on the T1/T2-Neutral battery, but at the level of the 6-year-olds on the T2-Dependent battery. These data support the distinction between two types of conceptual knowledge acquisition: acquisition of new knowledge formulated over an existing conceptual base (enrichment), on the one hand, and knowledge acquisition that results in genuine conceptual change, on the other. The implication of these results for a precise characterization of how concepts of people with "cocktail party syndrome" may be "superficial" is also discussed. Copyright 1998 Academic Press.
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