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Record 1Acute pure red cell aplasia associated with allopurinol therapy. Lin YW; Okazaki S; Hamahata K; Watanabe K; Usami I; Yoshibayashi M; Akiyama Y; Kubota M Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan. Am J Hematol (UNITED STATES) Jul 1999, 61 (3) p209-11, ISSN 0361-8609 Languages: ENGLISH Document type: JOURNAL ARTICLE
Several investigators have reported patients with acute pure red cell aplasia (PRCA) caused by anticonvulsants, antibiotics, or antithyroid agents. Allopurinol is known to be a causative agent of aplastic anemia, but there have been few reports of acute PRCA induced by allopurinol. We describe here a 15-year-old boy who suffered from anemia 6 weeks after initiation of allopurinol therapy; his anemia immediately improved after cessation of the drug. His bone marrow showed severe erythroid hypoplasia with a myeloid/erythroid ratio of 18.6 and low expression of glycophorin A detected on cell-surface antigen analysis. No morphological abnormalities were observed in myeloid series and megakaryocytes. The prolonged plasma iron disappearance rate and the decreased plasma iron turnover rate also indicated erythroid hypoplasia. He had been free from any infections, including parvovirus B19, before manifestation of PRCA. Taken together, these results suggest a diagnosis of acute PRCA. This side effect of allopurinol should be taken into consideration. Copyright 1999 Wiley-Liss, Inc.
Record 2Growth hormone treatment in a child with Williams-Beuren syndrome: a case report. Kuijpers GM; De Vroede M; Knol HE; Jansen M Department of Endocrinology, Wilhelmina Children's Hospital, Utrecht University, The Netherlands. [email protected] Eur J Pediatr (GERMANY) Jun 1999, 158 (6) p451-4, ISSN 0340-6199 Languages: ENGLISH Document type: JOURNAL ARTICLE
Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and responded well to growth hormone therapy. CONCLUSION: Although growth hormone deficiency is not likely to be a common cause of short stature in Williams-Beuren syndrome, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.
Record 3Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Broder K; Reinhardt E; Ahern J; Lifton R; Tamborlane W; Pober B Pediatric Service, Massachusetts General Hospital, Boston, USA. Am J Med Genet (UNITED STATES) Apr 23 1999, 83 (5) p356-60, ISSN 0148-7299 Languages: ENGLISH Document type: JOURNAL ARTICLE Previous studies report conflicting frequencies of hypertension in cohorts of patients with Williams syndrome (WS). We studied blood pressure (BP) in WS using 24-hour ambulatory BP monitoring. This technique reliably measures day- and nighttime BP in a subject's natural environment and provides better prognostic information on long-term risks of hypertension than casual BP determinations. Twenty WS subjects evaluated through a multidisciplinary WS clinic and 35 age and gender-matched controls were studied. We found that WS subjects had significantly higher ambulatory BP than controls. After controlling for age, sex, and weight, the diagnosis of WS added approximately 10 mmHg to mean daytime and nighttime BPs. Hypertension, as defined by elevated mean daytime BP, was present in 40% of WS subjects versus 14% of controls (P < 0.05); among the children studied this difference was even more dramatic with 46% of WS children versus 6% of control children classified as hypertensive (P = 0.01). We also demonstrated normal diurnal BP variation but no evidence of a "white coat" effect or increased BP variability. Interestingly, parental reporting of a history of infantile hypercalcemia was strongly associated with the presence of hypertension (P = 0.008). Our data demonstrate that both children and adults with WS have higher mean BP and higher frequency of hypertension than healthy controls. Thus, elevated BP readings in the office setting should not be dismissed but require more thorough assessment.
Record 4Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. Osborne LR Department of Genetics & Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada. Mol Genet Metab (UNITED STATES) May 1999, 67 (1) p1-10, ISSN 1096-7192 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL (82 Refs.)
Record 5Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. Bellugi U; Lichtenberger L; Mills D; Galaburda A; Korenberg JR The Salk Institute for Biological Studies, La Jolla, CA 92037, USA. Trends Neurosci (ENGLAND) May 1999, 22 (5) p197-207, ISSN 0166-2236 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
Williams syndrome (WMS) is a rare sporadic disorder that yields a distinctive profile of medical, cognitive, neurophysiological, neuroanatomical and genetic characteristics. The cognitive hallmark of WMS is a dissociation between language and face processing (relative strengths) and spatial cognition (profound impairment). Individuals with WMS also tend to be overly social, behavior that is opposite to that seen in autism. A genetic hallmark of WMS is a deletion on chromosome band 7q11.23. Williams syndrome is also associated with specific neuromorphological and neurophysiological profiles: proportional sparing of frontal, limbic and neocerebellar structures is seen using MRI; and abnormal functional organization of the neural systems that underlie both language and face processing is revealed through studies using event-related potentials. The non-uniformity in the cognitive, neuromorphological and neurophysiological domains of WMS make it a compelling model for elucidating the relationships between cognition, the brain and, ultimately, the genes. (82 Refs.)
Record 6Acute dissection during aortography in a patient with William's syndrome. Turner TW; Tyrrell MJ; Kakadekar AP Department of Pediatrics, University of Saskatchewan, Saskatoon, Canada. Cardiol Young (ENGLAND) Jan 1999, 9 (1) p97-8, ISSN 1047-9511 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 7Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome. Kim YM; Yoo SJ; Choi JY; Kim SH; Bae EJ; Lee YT Department of Radiology, Sejong Heart Institute, Korea. Cardiol Young (ENGLAND) Jan 1999, 9 (1) p37-41, ISSN 1047-9511 Languages: ENGLISH Document type: JOURNAL ARTICLE
We investigated the catheterization and angiographic findings of 26 patients with Williams' syndrome to evaluate the natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis. The severity of the stenosis was correlated with age and body surface area in terms of the pulmonary arterial index, right ventricular systolic pressure, sinutubular ratio (ratio of measured to mean normal diameter of sinutubular junction), and systolic pressure gradient across the sinutubular junction. In patients with pulmonary arterial stenosis (n=20), right ventricular systolic pressure tended to decrease, and pulmonary arterial index increased, with increase in age and body surface area. Between the groups with and without pulmonary arterial stenosis, there was significant difference in age (mean 4.70 vs. 9.87, p=0.019), body surface area (0.62 vs. 1.16, p=0.002), pulmonary arterial index (152 vs. 317, p=0.002) and right ventricular systolic pressure (73.9 vs. 33.0, p=0.006). As all patients showed similar diameters at the sinutubular junction regardless of age and body size, sinutubular ratio decreased with increases in age and body surface area. The group with abnormal coronary arteries (n=7) had smaller sinutubular ratio (0.46 vs. 0.61, p=0.021) and higher pressure gradients between the left ventricle and the aorta (67.6 vs. 42.2, p=0.023) than did the group with normal coronary arteries. Stenosis of a coronary artery, or a branch of the aortic arch, was observed only in three patients with diffuse aortic stenosis. Our results suggest that, with time, peripheral pulmonary arterial stenosis tends to improve, and supravalvar aortic stenosis to progress. Failure of growth of the sinutubular junction might be responsible for the progression of the aortic lesion. Progression of the aortic lesion may be associated with involvement of the coronary arteries.
Record 8Early puberty in Williams syndrome. Cherniske EM; Sadler LS; Schwartz D; Carpenter TO; Pober BR Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. [email protected] Clin Dysmorphol (ENGLAND) Apr 1999, 8 (2) p117-21, ISSN 0962-8827 Languages: ENGLISH Document type: JOURNAL ARTICLE
Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche and 83% of pubertal males showed Tanner III pubic hair development prior to the age of 12 years. The sequence of pubertal development was normal, bone age was always consistent with, or in excess of, chronological age, and there was evidence of central (hypothalamic-pituitary mediated) activation as the cause of early puberty in a subset of subjects.
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