Prenatal and adult presymptomatic testing for Huntington's disease

The discovery of a fragment of DNA that is linked closely to the Huntington's-disease autosomal locus offers the opportunity for the presymptomatic diagnosis of this dominantly-inherited neurodegenerative disorder. Presymptomatic testing will present individuals and society with difficult choices and responsibilities. A pilot adult presymptomatic test programme is under way for SA families. Presymptomatic testing requires intensive counselling both before and after the test. A form of prenatal test, which is applicable to a significant proportion of couples with one partner at risk of Huntington's disease, is available also. As this form of prenatal test does not change the risk status of the parent, less extensive counselling is required and testing is available nationally through the SA programme. It is anticipated that other states will develop their own diagnostic programmes in the near future. This article explains the basis for the test, its accuracy and the importance of obtaining DNA from key individuals in pedigrees of Huntington's disease.     

Positive evidence on effectiveness of selected smoking prevention programs in the United States.

Various smoking intervention approaches have been demonstrated to successfully alter smoking behavior among individual smokers, but it is difficult to demonstrate the benefit of these individual cessation approaches across the population of smokers. In contrast, efforts that concentrate on altering the social and economic environment within which the smoker smokes, most notably the media, taxation, and changing the social acceptability of smoking, have been linked to substantial shifts in the smoking behavior of the US population. Attacking tobacco use as a form of sociological carcinogenesis, rather than focusing on the individual smoker, allows alteration at the root of smoking behavior, ie, its personal, social, and psychological utility for the smoker.     

Protection from environmental tobacco smoke in California. The case for a smoke-free workplace.

OBJECTIVE--To determine the extent of exposure of nonsmoking indoor workers to environmental tobacco smoke (ETS) according to type of work-site smoking policy, work area, workplace size, and demographic characteristics. DESIGN AND PARTICIPANTS--Participants included 7162 adult, nonsmoking, indoor workers who were interviewed as part of the 1990 California Tobacco Survey. Respondents were asked whether anyone had smoked in their work area within the past 2 weeks. RESULTS--An estimated 2.2 million California nonsmokers were exposed to tobacco smoke at indoor work sites in 1990. Nonsmoker exposure to ETS was 9.3% for those working in a smoke-free worksite, 23.2% for those working where there was only a work-area restriction, 46.7% for those working where there was a policy that did not include the work area, and 51.4% for those working where there was no work-site smoking policy. After adjustment for type of work area (eg, office, open area), workplace size, and demographic factors, it was determined that nonsmokers working where there was only a work-area ban were 2.8 times more likely to be exposed to ETS than those working in a smoke-free work site. In workplaces with no policy or a policy not covering the work area, nonsmokers were over eight times more likely to be exposed to ETS than those who worked in a smoke-free work site. Nonsmokers who were 18 to 24 years of age, male, or Hispanic, and those with less than a high school education had more exposure to ETS. CONCLUSION--These results indicate that adequate protection of nonsmokers from ETS exposure requires a smoke-free work site.     

Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload.

Congenital dyserythropoietic anemia type II is a rare disorder that is often diagnosed in patients before age 20 years. Patients with this disorder, which is also called hereditary erythroblastic multinuclearity associated with a positive acidified serum lysis test, may have symptoms of iron overload. The purpose of this case report is to alert physicians to consider the diagnosis of congenital dyserythropoietic anemia type II in elderly patients who have anemia and iron overload.     

卡巴胆碱对多器官功能障碍综合征小鼠脏器功能和结构的保护作用

目的:观察卡巴胆碱(carbachol,Car)对酵母多糖致多器官功能障碍综合征(MODS)小鼠多脏器功能和结构损伤的防护作用。方法:采用腹腔注射酵母多糖的方法复制小鼠MODS模型。雄性C57BL/6小鼠随机分为正常对照组(n=10),MODS 6、24、48 h组(n=30)和MODS Car 6、24、48 h防治组(n=30)。MODS组在致伤后腹腔注入生理盐水;MODS Car防治组在致伤前24 h内分3次灌胃注入卡巴胆碱。观察酵母多糖致伤后早期(48h内)动物死亡率,检测各组血丙氨酸转氨酶活性、尿素氮和肌酐水平,镜下观察致伤后48 h动物肝、肺、肾、心等脏器的组织病理学改变。结果:在酵母多糖致伤后48h内,MODS组小鼠死亡率达26.6%,MODS Car防治组的小鼠死亡率为10.0%。MODS组小鼠血浆ALT、BUN和Cr在伤后6h升高,而同时间点经卡巴胆碱预处理的小鼠血浆ALT、BUN和Cr仅略有升高,明显低于MODS组。光镜下观察发现,MODS组小鼠肝脏、肺脏、肾脏和心脏发生明显的病理改变,主要表现为脏器实质细胞浊肿、变性,间质充血、水肿和炎性细胞浸润,而卡巴胆碱防治组小鼠上述病变明显减轻。结论:预防性给予卡巴胆碱可以降低MODS急性期动物的死亡率,减轻脏器功能和结构的损伤,对急性炎症期的脏器损伤具有保护作用。     

Fatal encephalitis in a patient with refractory celiac disease presenting with myorhythmia and carpal spasm.

We report the case of a woman with refractory celiac disease who developed abnormal spontaneous movements of the extremities and face consistent with myorhythmia. Investigation led to a diagnosis of encephalitis, confirmed by postmortem examination. The movements were likely caused by nonparaneoplastic encephalitis associated with refractory celiac disease. Etiologic and diagnostic considerations and treatment options are discussed.     

Physical and psychosocial adaptation of blacks on hemodialysis.

Roy's Adaptation Model was used to study problems and coping strategies reported by 102 blacks on hemodialysis. Although the most frequently identified problems were fatigue, muscle soreness, and physical limitations, food and fluid restrictions were most bothersome. Participants used multiple strategies to cope with the illness and its treatment. Putting trust in God was the most frequently identified strategy. These findings can be used to enhance the physical and psychosocial assessment of these patients and facilitate the ability of clinicians to intervene effectively in helping clients cope with the problems that are associated with the illness and its treatment.     

Peri-operative myocardial injury in patients undergoing surgery for critical limb ischaemia.

INTRODUCTION: Although up to a half of patients undergoing abdominal aortic aneurysm (AAA) repair suffer myocardial injury, as indicated by a rise in cardiac troponin I (cTnI), this is infrequently accompanied by a rise in creatine kinase (CK)-MB fraction or electrocardiogram (ECG) changes. This study compares for the first time peri-operative cTnI, CK-MB and ECG changes in patients undergoing surgery for critical lower limb ischaemia (CLI). METHODS: Twenty-nine patients (20 men, median age 75 [range, 57-95] years) were studied prospectively. cTnI, CK/CK-MB ratio and ECG were performed pre-operatively and on post-operative days 1, 2 and 3. RESULTS: Eleven (38%) patients had an elevated cTnI >0.5 ng/ml. Five (17%) patients had an elevated CK-MB fraction >4% and all of these patients had an elevated cTnI. Eleven (38%) patients had ischaemic changes on ECG including seven of 11 (64%) patients with elevated cTnI and all five patients with elevated CK-MB fraction. There was no relationship between pre-operative cardiac status, antiplatelet use or type of anaesthesia and post-operative cTnI rise. Patients with a cTnI rise were younger (p=0.01), and were more likely to have presented with gangrene (p=0.04) and have a longer operation time (p=0.01) than patients who did not demonstrate a cTnI rise. Four patients developed clinically apparent cardiac complications: cardio-pulmonary arrest (n=1), cardiogenic shock (n=1), acute CCF (n=1) and rapid atrial fibrillation (n=1). Survival at 6 months was 26 of 29 (90%) patients. CONCLUSION: These data demonstrate that over a third of patients operated for CLI sustain peri-operative myocardial injury, many of which are not clinically apparent. Pre-operative medical optimisation may improve prognosis in this group of patients.