Unique mosaicism in Prader-Labhart-Willi syndrome—a contiguous gene or aneuploidy syndrome?

A 16-year-old boy with Prader-Labhart-Wi11i syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter → 15ql2); 46,X, t(Y;15), dic(15)(15pter → 15ql2::15ql2 → 15pter) and 47,X,t(Y;15), dic(15), dic(15). The dic(15) was bisatel1ited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter → 15q 12) and partial pentasomy 15 (15pter → 15ql2), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS; as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.     

含巨菊形团的玻璃样变梭形细胞肿瘤--附3例报告及电镜分析

含巨菊形团的玻璃样变梭形细胞肿瘤 (ＨＳＣＴＧＲ)是近年来才被命名的间叶性肿瘤 ,光镜下类似低度恶性纤维粘液肉瘤。作者观察了 3例ＨＳＣＴＧＲ的光镜、电镜及免疫组化表现。3例中男性 2例 ,分别为 41和 5 4岁 ,女性 1例 ,6 2岁。肿瘤位于深部软组织 ,2例在下肢 ,1例在上臂。大体上 ,最大径 3～ 13 3ｃｍ不等 ,境界清楚 ,呈棕红色或黄白色 ,质实 ,可伴囊性变 ,其中发生于小腿的 1例合并有股骨骨肉瘤 ,小腿部肿块仅做了活检。光镜下 3例图像相似 ,均有纤维粘液样区 ,2例伴有玻璃样变 ,1例有灶性骨化。肿瘤细胞为温和的卵圆形至梭形细胞 ,…     

Clot lysis by gastric juice: an in vitro study.

Gastric juice from patients with peptic ulcer disease and from patients with no upper gastrointestinal abnormality was studied in order to assess its effect on a formed fibrin clot. In both groups of patients gastric juice caused a marked increase in fibrinolysis as evidenced by a shortening of the euglobulin clot lysis time. This plasmin mediated fibrinolytic activity was found to be heat labile and only present in an acid environment. Addition of tranexamic acid or sucralfate to gastric juice almost completely reversed this effect, whereas pepstatin was only partially effective. It is probable that acid dependent proteases other than pepsin are responsible for the marked fibrinolysis. The ulcer healing agent sucralfate might be useful in those patients at risk of bleeding or rebleeding from active peptic ulcer disease.     

Randomized trial of umbilical arterial catheter position: clinical outcome

In order to determine if umbilical arterial Catheter position affects the incidence of necrotizing enterocolitis, clinical outcome was analysed in 308 infants whose umbilical arterial catheter had been randomly allocated to a high ( n =162) or a low ( n =146) position. Necrotizing enterocolitis was classified as suspected or confirmed; all renal, lower limb and local catheter complications were also recorded. High umbilical arterial catheters were in place for longer than low catheters, provided more samples and were removed as an emergency less often. Lower limb blanching and cyanosis were more common with low catheters. Eleven cases of confirmed necrotizing enterocolitis occurred in the "high" group and nine in the "low" group. One case of fatal aortic thrombosis was encountered in the high group. Positioning umbilical arterial catheters in a high position allowed longer functional use and did not increase the incidence of necrotizing cnterocolitis.     

A new method with high sensitivity and specificity for localization of abnormal parathyroid glands.

A novel method for localization of abnormal parathyroid glands involving color-processing of nuclear scintigrams of the neck after injection of Thallium-201 and Technetium pertechnetate is presented with surgical correlation. Preoperative localization of single parathyroid adenomas was successful in 88% of previously unoperated patients and in 85.7% of those with adenomas not located at previous surgery. Eighty-three per cent of glands with secondary hyperplasia, 66% of glands with primary hyperplasia, and one carcinoma were localized. No abnormal studies were seen in non-hyperparathyroid hypercalcemia, and no false positive studies were seen. Localization appeared related to larger adenomas (300-5000 mg), although one of 60 mg was localized. Color-comparison dual-isotype scintigraphy was useful for localization of parathyroid adenomas and hyperplastic glands and exceeded the reported sensitivity of either ultrasonography or computerized tomography. It deserves wider evaluation in preoperative management of at least hyperparathyroidism of the primary or persistent types.     

NORMALITY OF DISTRIBUTION OF RESTING PALMAR SKIN POTENTIAL

Resting skin potential level scores from three samples, two of undergraduates and one of housewives, were analyzed for normality of distribution. The first two samples showed no significant departure from normality. The third showed some significant positive skewness. In general, it was concluded that resting level scores were sufficiently normal not to require transformation for statistical analyses.