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Record 1Brom's three-patch technique for repair of supravalvular aortic stenosis. Hazekamp MG; Kappetein AP; Schoof PH; Ottenkamp J; Witsenburg M; Huysmans HA; Bogers AJ Department of Cardiothoracic Surgery, Leiden University Medical Centre, Leiden, The Netherlands. J Thorac Cardiovasc Surg (UNITED STATES) Aug 1999, 118 (2) p252-8, ISSN 0022-5223 Languages: ENGLISH Document type: JOURNAL ARTICLE
OBJECTIVE: Case histories of all patients (n = 29) operated on for supravalvular aortic stenosis from 1962 to the present were reviewed to study different techniques and outcomes. The technique of symmetric aortoplasty with 3 patches (1 in each sinus) is described and compared with other methods. METHODS: Case reports were reviewed and follow-up was completed by contacting the patient's (pediatric) cardiologist. We aimed for a last follow-up visit, including Doppler echocardiographic studies, in a period no more than 12 months earlier than December 1997. Supravalvular aortic stenosis was discrete in 25 and diffuse with involvement of the aortic arch and arch vessels in 4 patients. Additional anomalies were bicuspid aortic valve (n = 5), coarctation (n = 3), ascending aortic aneurysm (n = 1), mitral valve insufficiency (n = 2), pulmonary valvular stenosis (n = 1), and peripheral pulmonary artery stenosis (n = 2). Eleven patients had Williams syndrome and 1 patient had Noonan syndrome. Symmetric aortoplasty with 3 patches (1 in each sinus) was used in 13 patients, whereas other nonsymmetric methods (1, 2, or Y-shaped patches) were used in 16 patients. Mean follow-up was 10.5 years (range: 4 months-36 years). RESULTS: All techniques adequately decreased the pressure gradient. Progression of preoperative aortic valve insufficiency or de novo regurgitation was not observed except in 1 patient in whom the patches inserted were too large. CONCLUSIONS: No difference could be demonstrated in outcome for any surgical technique; however, reconstruction of the aortic root with autologous pericardial patches in each sinus after transection of the aorta has the advantage of symmetry while restoring the normal aortic root anatomy.
Record 2Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment. Ghirri P; Bottone U; Coccoli L; Bernardini M; Vuerich M; Cuttano A; Riparbelli C; Pellegrinetti G; Boldrini A Divisione di Neonatologia, Universita di Pisa, Ospedale S. Chiara, Italy. J Endocrinol Invest (ITALY) May 1999, 22 (5) p349-53, ISSN 0391-4097 Languages: ENGLISH Document type: JOURNAL ARTICLE
Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyperparathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hypersensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.
Record 3[What's new in pediatric cardiology?] Quoi de neuf en cardiologie pediatrique? Bonnet D; Sidi D Service de cardiologie pediatrique, hopital Necker-Enfants-malades, Paris, France. Arch Pediatr (FRANCE) Jul 1999, 6 (7) p777-80, ISSN 0929-693X Languages: FRENCH Summary Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL English Abstract
In recent years, close collaborations have been established between pediatric cardiology, medical and molecular genetics, fetal cardiology and pediatric radiology. As a consequence, several congenital heart defects and syndromes including cardiovascular malformations have been related to microdeletions such as 22q11 in Di George syndrome and 7q in Williams syndrome. Prenatal detection of heart malformations has become a crucial part of the management of life-threatening malformations of the neonate such as the transposition of the great arteries or the coarctation of the aorta. We are at the dawn of a new era of the development of preventive cardiovascular medicine starting from childhood thanks to new techniques of echo-tracking. Finally, three-dimensional reconstruction of heart defects by using ultrasound, X-ray or MRI have dramatically improved the diagnosis and the therapeutic strategies of cardiac diseases. (19 Refs.)
Record 4A complete physical contig and partial transcript map of the Williams syndrome critical region. Hockenhull EL; Carette MJ; Metcalfe K; Donnai D; Read AP; Tassabehji M University Department of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, M13 0JH, United Kingdom. Genomics (UNITED STATES) Jun 1 1999, 58 (2) p138-45, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE
Williams syndrome (WS) is a contiguous gene syndrome caused by hemizygosity for a chromosomal deletion at 7q11.23. The range of phenotypes includes mental retardation, dysmorphic facies, heart abnormalities, short stature, a specific cognitive profile, hyperacusis, and infantile hypercalcaemia. To identify all the deleted genes, we have constructed a detailed physical map and complete BAC/PAC contig of the critical region, extending a distance of approximately 2 Mb and delimited by the nondeleted markers D7S1816 and D7S489A. Somatic cell hybrids of WS patients were made and used to define the centromeric and telomeric deletion breakpoints, enabling the size of the WS deletion to be defined as approximately 1.4 Mb. Genes previously mapped to the region have been located on the contig, and we have isolated eight transcripts, two of which have been characterized as the genes CPETR1 and CPETR2. This contig and expressed sequence map will form the basis for the construction of a complete transcription map of the deleted region and will enable genotype-phenotype correlations to be attempted to identify the individual components of WS. Copyright 1999 Academic Press.
Record 5ACF consists of two subunits, Acf1 and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assembly. Ito T; Levenstein ME; Fyodorov DV; Kutach AK; Kobayashi R; Kadonaga JT Department of Biology and Center for Molecular Genetics, University of California, San Diego, La Jolla, California 92093-0347, USA. Genes Dev (UNITED STATES) Jun 15 1999, 13 (12) p1529-39, ISSN 0890-9369 Languages: ENGLISH Document type: JOURNAL ARTICLE
The assembly of core histones and DNA into periodic nucleosome arrays is mediated by ACF, an ISWI-containing factor, and NAP-1, a core histone chaperone, in an ATP-dependent process. We describe the isolation of Drosophila acf1 cDNA, which encodes the p170 and p185 forms of the Acf1 protein in ACF. Acf1 is a novel protein that contains two PHD fingers, one bromodomain, and two new conserved regions. Human WSTF, which is encoded by one of multiple genes that is deleted in Williams syndrome individuals, is the only currently known mammalian protein with each of the conserved motifs in Acf1. Purification of the native form of Acf1 led to the isolation of ACF comprising Acf1 (both p170 and p185 forms) and ISWI. Native Acf1 did not copurify with components of NURF or CHRAC, which are other ISWI-containing complexes in Drosophila. Purified recombinant ACF, consisting of Acf1 (either p185 alone or both p170 and p185) and ISWI, catalyzes the deposition of histones into extended periodic nucleosome arrays. Notably, the Acf1 and ISWI subunits function synergistically in the assembly of chromatin. ISWI alone exhibits a weak activity that is approximately 3% that of ACF. These results indicate that both Acf1 and ISWI participate in the chromatin assembly process and suggest further that the Acf1 subunit confers additional functionality to the general 'motor' activity of ISWI.
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