基因测序诊断遗传性高胆红素血症的研究进展

遗传性高胆红素血症是一类常染色体遗传病,多以黄疸为主要表现,但临床及相关化验室检查缺乏特异性,故疾病诊断非常困难。随着基因检测技术的飞速发展,该类疾病患者的确诊率逐年增加,新的致病性突变也不断被发现,使得人们对遗传性高胆红素血症的认识更加全面,也在一定程度上避免了不必要的治疗。本文就遗传性高直接胆红素血症及遗传性高间接胆红素血症概述及各型相关基因突变及治疗进展进行综述,以期为临床治疗该疾病提供参考。     

Effects of acute endotoxemia and glucose administration on circulating leukocyte populations in normal and diabetic subjects.

Effects of intravenous endotoxin and glucose administration on circulating leukocyte populations were compared in seven normal subjects and seven patients with juvenile-onset diabetes by means of automated cytochemical differential counting to quantitate each cell type. Both groups had comparable control cell counts that were unaffected by glucose tolerance testing but altered significantly by endotoxin. Different patterns of response to endotoxin were observed for different circulating cell types. The response of diabetics was parallel to that of normals but showed lower neutrophil and monocyte rebound, longer lasting depression of lymphocytes and eosinophils, and greater rebound of basophils on the day following endotoxin exposure. Characterization of distinctive normal response patterns of circulating leukocyte populations to endotoxin and comparison with responses in diabetes revealed abnormalities under conditions of stress that may impair the diabetic's ability to cope with acute infection.     

Use of an esthetic overdenture as an alternative treatment in a patient with bilateral cleft lip and palate

Stable occlusion and a pleasing esthetic appearance are often difficult to achieve in patients with congenital defects and severe midfacial deficiencies. Conventional therapy, such as orthodontic treatment followed by orthognathic surgery, is often not sufficient to fully correct the dental and esthetic problems. An interdisciplinary approach for these patients should include prosthodontic treatment that will assist in establishing a harmonious occlusion and improve facial appearance. This clinical report describes the interdisciplinary approach for a young patient with a history of bilateral cleft lip and palate, spina bifida, hydrocephalus, and ventriculoperitoneal shunt. The patient was treated with conventional orthodontic treatment and orthognathic surgery that failed to fully correct the malocclusion. A removable overlay prosthesis made of crystallized acetyl resin was used to reestablish esthetics and create a stable occlusion.     

Gilbert Syndrome in a Young Ethiopian Man: First Case Report

BackgroundGilbert syndrome is a well-recognized condition causing unconjugated hyperbilirubinemia with otherwise normal transaminases and liver function tests.CaseA 21 year old male patient presented with recurrent episodes of jaundice over four years. The episodes were preceded by stressful conditions and intercurrent illnesses. All laboratory prameters were normal except an unconjugated hyperbilirubinemia. A diagnosis of Gilbert syndrome was made after careful clinical evaluation.ConclusionRecognizing Gilbert syndrome has important clinical implicaitions by avoiding uncessary and expensive workup of patients with jaundice. Mangement entails avoiding stressful conditions and prolonged fasting.     

Provider variability in intensity modulated radiation therapy utilization among Medicare beneficiaries in the United States

Background

In this study, we sought to examine the variation in intensity modulated radiation therapy (IMRT) use among radiation oncology providers.