Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.     

Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome.

X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand (CD40L) gene with normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE. Liver disease may occur as a clinical manifestation in XHIGM. This complication appears to increase with age. We report an 18-year-old male patient who had recurrent episodes of acalculous cholecystitis (AC) and sclerosing cholangitis (SC). The diagnosis of XHIGM was confirmed by the finding of CD40L expression < 1% of normal and a tyrosine 169 asparaginase (t526a) mutation in exon 5 (the tumor necrosis factor domain) of the CD40L gene. The patient had direct hyperbilirubinemia (direct bilirubin 5.5 mg/dL, total bilirubin 8.7 mg/dL), cholestasis (alkaline phosphatase 1133 U/L, gamma-glutamyl transferase 1019 U/L) and elevated transaminases (aspartate aminotransferase 70 U/L, alanine aminotransferase 101 U/L). Findings on abdominal ultrasound and abdominal computed tomography were compatible with AC. After the fourth episode of cholecystitis, cholecystectomy and liver biopsy were performed. Operative cholangiography revealed poor opacification of the hepatic duct and proximal common bile duct; the upstream intrahepatic bile ducts were not visualized. The biopsy specimen showed marked fibrosis of the portal areas. Enterococcus species was cultured from the bile. Children or adolescents with recurrent AC and SC should be evaluated for an underlying immunodeficiency syndrome such as XHIGM.     

Policy Perspective on Housing and HIV/AIDS

For persons battling HIV/AIDS a stable place to live may decide the length and quality of life itself. It is nearly impossible for a person on the streets to engage in a needed continuous AIDS treatment regimen when the very basic question of where that person will rest his or her head when darkness comes in just a few hours is unresolved. When danger lurks on the streets, when cold numbs the limbs, when tiredness overwhelms the mind, when fear breaks the spirit, a place to call home would make all the difference.     

Constructing osteoarthritis through discourse – a qualitative analysis of six patient information leaflets on osteoarthritis

Background  

Health service policy in the United Kingdom emphasises the importance of self-care by patients with chronic conditions. Written information for patients about their condition is seen as an important aid to help patients look after themselves. From a discourse analysis perspective written texts such as patient information leaflets do not simply describe the reality of a medical condition and its management but by drawing on some sorts of knowledge and evidence rather than others help construct the reality of that condition. This study explored patient information leaflets on osteoarthritis (OA) to see how OA was constructed and to consider the implications for self-care.     

利福昔明对比环丙沙星治疗急性肠炎临床研究

目的　研究利福昔明对比环丙沙星治疗急性肠炎的有效性和安全性。　方法　采用随机对照方法 ,共治疗 5 1例急性肠炎。利福昔明治疗 2 5例 ,环丙沙星 2 6例 ,用药时间方法相同。观察治疗前后临床症状、大便性状、大便次数、便常规、血常规、尿常规及肝肾功能 ,以了解其疗效及不良反应情况。　结果　利福昔明组 (治疗组 )与环丙沙星组 (对照组 )相比 ,显效率分别为 92 .0 %和 80 .8% ,总有效率分别为 92 .0 %和 96 .2 % ,止泻时间治疗组 2 8.6 7± 15 .92h ,对照组 36 .12± 2 0 .70h ,均未见明显毒副作用。以上各项指标及两组在治疗过程中大便次数变化、大便常规复常率经统计学处理均无显著性差异 (P >0 0 5 )。　结论　利福昔明可用于治疗急性肠炎 ,与环丙沙星比较 ,疗效相仿 ,但耐受性好 ,口服不吸收 ,故值得推广     

Factors affecting aseptic loosening of 4750 total hip arthroplasties: multivariate survival analysis

Background  

Total hip arthroplasty is a successful surgery, that fails at a rate of approximately 10% at ten years from surgery. Causes for failure are mainly aseptic loosening of one or both components partially due to wear of articular surfaces and partially to design. The present analysis aimed to identify risk factors and quantify their effects on aseptic failure.