Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.     

Arsonoliposomes for the Potential Treatment of Medulloblastoma

Purpose  

To investigate the arsonoliposome effect on medulloblastoma cells (VC312Rs) related to uptake, endocytotic mechanism and cell viability.     

Candidemia at selected Canadian sites: results from the Fungal Disease Registry, 1992-1994

BACKGROUND: Candida species are important bloodstream pathogens that are being isolated with increasing frequency. Despite the availability of effective antifungal therapy, the mortality rate associated with Candida infection remains high. With the objective of describing the epidemiology of candidemia, the Canadian Infectious Disease Society conducted a study of candidemia in Canada. METHODS: Fourteen medical centres across Canada identified all patients with candidemia from March 1992 to February 1994 through blood culture surveillance for Candida spp. Patient-related data for invasive fungal infection were compiled retrospectively by chart review using a standardized data-recording form developed for the Fungal Disease Registry of the Canadian Infectious Disease Society. Cases of Candidemia were studied in relation to underlying medical conditions, predisposing factors, concurrent infection, antimicrobial agents, antifungal treatment and deaths. RESULTS: In total, 415 cases of candidemia were identified, 48 (11.6%) in children and 367 (88.4%) in adults. The causative pathogens were C. albicans in 286 cases (68.9%), C. parapsilosis in 43 (10.4%), C. glabrata in 34 (8.2%), C. tropicalis in 27 (6.5%) and other Candida species in 18 (4.3%); polymicrobial candidemia occurred in 7 cases (1.7%). The overall mortality rate was 46%, and the rate of deaths clinically related to candidemia was 19%. However, only 13 (27%) of the children died. A univariate analysis indicated that significant risk factors for death were age greater than 60 years, therapy for concomitant bacterial infection, stay in an intensive care unit, concurrent malignant disease, cytotoxic chemotherapy and granulocytopenia, although only age and stay in an intensive care unit emerged as significant risk factors in the multivariate analysis. After adjustment for other predictors of death, only infection with C. parapsilosis was associated with a lower mortality rate than infection with C. albicans. Treatment was given in 352 (84.8%) of cases. Amphotericin B was the preferred agent in 244 cases (69.3% of those treated); fluconazole was used in 101 cases (28.7%) and ketoconazole in 5 cases (1.4%). INTERPRETATION: Candidemia in Canada is caused predominantly by C. albicans. The mortality rate associated with candidemia is high, but it varies with the species of Candida and is lower in children than in adults. Age greater than 60 years and stay in an intensive care unit were the most significant risk factors for overall mortality.     

Body dysmorphic disorder due to hirsutism in a patient treated with cyclosporin

Sir, Currently administered immunosuppression schemes usually includecyclosporin. Cyclosporin has brought about a revolution in patientprognosis and in renal graft survival, but, unfortunately, ithas many side effects [1,2]. While physicians are attentiveto the more serious and life threatening of these side effects,     

N-乙酰半胱氨酸对脑死亡状态巴马小型猪肾脏结构、功能与核转录因子κB表达的影响

目的：观察核转录因子κB活性抑制剂N-乙酰半胱氨酸对脑死亡状态下巴马小型猪肾脏结构、功能与核转录因子κB mRNA其蛋白表达的影响，以期提高脑死亡供肾的肾移植效果。方法：实验于2003—08／2004—12在河南省实验动物中心及河南省病理学重点实验室完成。①实验分组及方法：将15只巴马小型猪按随机数字表法分为3组（n=5），即脑死亡组、N-乙酰半胱氨酸组及对照组。脑死亡组和N-乙酰半胱氨酸组均应用改进的缓慢间断颅内加压法建立脑死亡模型，脑死亡组不行药物干预；N-乙酰半胱氨酸组分别于初次确认脑死亡后1h，12h给予N-乙酰半胱氨酸。对照组动物麻醉后仅行开颅与开关腹手术。②实验评估：分别于首次判定脑死亡后3，6，12，18和24h检测动物血清中尿素氮、肌酐、白细胞介素1β、白细胞介素6、肿瘤坏死因子α水平。于脑死亡后3，6，12及24h开腹取相同部位肾组织，苏木精-伊红染色后观察肾组织结构变化，应用免疫组化染色观察核转录因子κB蛋白的表达水平，应用反转录-聚合酶链反应法检测核转录因子κB mRNA动态变化。结果：15只猪均进入结果分析。①自首次判定脑死亡后12h开始，脑死亡组和N-乙酰半胱氨酸组尿素氮和肌酐水平逐渐升高（P〈0．05），相同时间点比较N-乙酰半胱氨酸组显著低于脑死亡组（P〈0．05）。②自首次判定脑死亡3h开始，脑死亡组及N-乙酰半胱氨酸组白细胞介素1β、白细胞介素6、肿瘤坏死因子α逐渐升高（P〈0．05），相同时间点比较N-乙酰半胱氨酸组显著低于脑死亡组（P〈0．05）。③自脑死亡后3h开始，脑死亡组及N-乙酰半胱氨酸组肾组织NF-κB mRNA其蛋白表达水平逐渐升高（P〈0．05），相同时间点比较N-乙酰半胱氨酸组显著低于脑死亡组（P〈0．05）。④N-乙酰半胱氨酸组和脑死亡组动物脑死亡后12h可见肾脏结构变化，N-乙酰半胱氨酸组变化程度明显轻于脑死亡组。结论：N-乙酰半胱氨酸可能通过抑制核转录因子κB mRNA其蛋白的表达，减少炎症介质的释放，从而保护脑死亡状态下肾脏的功能及结构，提高脑死亡供肾肾移植效果。     

不同孔径纳米羟基磷灰石人工骨修复兔桡骨缺损效果比较

目的:纳米级的羟基磷灰石材料与人体内组织成分更为相似,具有更佳的生物性能。评价不同孔径的多孔纳米羟基磷灰石人工骨的骨缺损修复能力,从而筛选出适合的孔径以达到骨传导功能与生物力学性能的良好统一。方法:实验于2005-10/2006-10在深圳市第二人民医院中心实验室完成。①实验材料:纳米羟基磷灰石人工骨以硝酸钙和磷酸二氢铵为原料,采用溶胶-絮凝法制备粉体,运用压力成型、木模成型和浸渍成型分别制得孔隙分布均匀的孔径分别为50～150μm、100～250μm和300～500μm的多孔纳米羟基磷灰石人工骨。②实验动物:雄性新西兰大白兔60只随机分为植入50～150μm孔径材料组、植入100～250μm孔径材料组、植入300～500μm孔径材料组、空白对照组,每组15只。实验过程中对动物处置符合动物伦理学要求。③实验方法:制备双侧桡骨骨缺损动物模型,然后用3种不同孔径的纳米羟基磷灰石人工骨材料植入骨缺损处进行修复,空白对照组不植入任何材料。④实验评估:术后4,8和12周分别行大体标本观察、X射线片观察、扫描电镜观察及生物力学测试,比较各组材料修复骨缺损的能力。结果:实验动物均进入结果分析。①X射线片检查结果:术后4周、8周、12周,植入100～250μm孔径材料组X射线评分高于植入50～150μm,300～500μm孔径材料组,差异有显著性意义(P<0.05)。②生物力学检测结果:术后4周、8周、12周,植入100～250μm孔径材料组生物力学强度高于植入50～150μm,300～500μm孔径材料组,差异有显著性意义(P<0.05)。③扫描电镜观察结果:植入100～250μm孔径材料组成骨效果明显优于植入50～150μm,300～500μm孔径材料组和空白对照组。结论:纳米羟基磷灰石人工骨具有良好的成骨能力,但其骨修复能力受孔径因素的影响,孔径100～250μm的纳米羟基磷灰石人工骨材料成骨能力较好。     

抑郁症综合式家庭治疗：76例单盲随机对照

目的:探讨综合式家庭治疗对抑郁患者及家属的效果。方法:于2002-11/2003-11选择郑州市第八人民医院符合中国精神障碍分类与诊断标准第3版抑郁症诊断标准的抑郁患者为实验对象。患者家住郑州市区并有直系亲属与其同住,无严重躯体疾病。76例自愿参加本实验,按随机数字表分为实验组与对照组。实验组男14例,女25例,平均(36±6)岁,首次发病年龄(28±7)岁,病程(5.6±5.4)年,住院次数(2.1±2.8)次,读书年限(11.2±2.4)年。对照组男13例,女24例,平均(35±6)岁,首次发病年龄(28±7)岁,病程(5.9±5.8)年,住院次数(2.2±2.6)次,读书年限(10.8±5.8)年。以上各变量两组间差异无显著性意义,具有较好的可比性。于患者住院时与实验组家属见面建立初步医患关系,但不干预住院期间的治疗。出院后实验组接受家庭治疗,对照组接受普通门诊治疗。家庭治疗是结合中国家庭心理行为特征,参考国外家庭系统模式、心理教育模式、认知行为模式等心理治疗理论发展起来的。分积极干预和维持治疗两个阶段。积极干预的疗程一般为1年半至2年,以药物治疗、心理教育、家庭干预为主要手段。采用汉密顿抑郁量表评价临床症状,用临床总体量表-疗效总评量表评定临床疗效,用修订社会功能缺陷筛选表评价患者社会功能,用修订社会功能缺陷筛选表得分百分率描述患者最近半年社会功能缺陷的严重程度(0%为最好,100%为最差),分别于入院时、出院时、随访6个月后进行评定。评价家庭负担的方法:要求关键亲属从6个方面评价疾病最近半年对家庭生活的影响程度(0:没有影响;1:轻度;2:中度;3:重度)。结果:76例患者均均进入结果分析。①两组患者入院时和出院时的汉密顿抑郁量表及临床整体量表-疗效总评估量表评分差异无显著性意义,但通过出院后24个月家庭心理治疗之后,实验组与对照组汉密顿抑郁量表及临床整体量表-疗效总评估量表评分差异有显著性意义,实验组疗效要明显好于对照组[汉密顿抑郁量表:(7.08±4.21),(12.26±0.85)分,P<0.01;临床整体量表-疗效总评估量表评分:(1.48±0.15),(2.63±0.12)分,P<0.05]。②随访期间实验组总的社会功能缺陷轻于对照组[再住院天数:(0.97±15.41),(7.61±26.14)d;全天工作时间:(86.7±48.10)%,(68.4±32.10)%;社会功能缺陷程度:(12.10±18.10)%,(38.10±15.20)%,P均<0.01]。实验组家庭随访期间受到的经济压力和情绪影响明显低于对照家庭,家属之间关系明显好于对照组[(0.78±0.61),(1.51±0.83)分;(1.76±0.52),(2.15±0.68)分;(0.43±0.69),(0.96±0.78)分,P均<0.05]。结论:综合式家庭治疗是治疗抑郁症的一个有效方法。     

Atrial natriuretic peptide infusion and nitric oxide inhalation in patients with acute respiratory distress syndrome

Aim  

To study the effects of infusion of atrial natriuretic peptide (ANP) versus the inhalation of nitric oxide (NO) in patients with an early acute respiratory distress syndrome (ARDS).     

福建省高校贫困大学生心理健康水平与人格特征

目的:了解贫困生的心理健康现状和人格特征。方法:于2005-09/11随机抽取福州大学、福建师范大学、福建农林大学、福建中医学院、闽江学院2002-2004级学生2400名。男1478名,女922名,平均(20±1)岁。根据2004-11-04福建省福州市政府办公厅正式下发的《福州市人民政府关于提高城区城镇及农村居民最低生活保障标准的通知》中的规定,即城镇多人户每人每个月210元、单人户230元;农村多人户每人每月155元、单人户175元,本文把家庭人均月收入较少,有一定数额债务,只能缴纳部分学杂费,基本生活费接近于当地居民最低生活保障线(如上规定,本文以230元为基准)的学生定为“贫困生”。采用精神症状自评量表和16种人格因素问卷对高校贫困生的心理健康和人格特征进行调查。结果:发放问卷2400份,收回有效问卷2111份。其中贫困生539份。①贫困生精神症状自评量表的躯体化、强迫、人际敏感、抑郁、焦虑、敌对、恐怖、偏执、精神病性、其他、总症状指数得分均高于非贫困生(贫困生:1.61±0.56,2.02±0.64,1.92±0.63,1.71±0.56,1.65±0.58,1.73±0.68,1.57±0.62,1.81±0.65,1.67±0.54,1.76±0.63,1.74±0.49;非贫困生:1.48±0.45,1.89±0.56,1.79±0.57,1.61±0.51,1.54±0.50,1.61±0.56,1.44±0.49,1.66±0.54,1.54±0.46,1.61±0.53,1.62±0.41,P<0.01)。男女贫困生之间各因子分差异均不显著(P>0.05)。②福建省高校贫困大学生的心理问题检出率为24.5%,其中轻度心理问题(2≤因子分<3)为22.6%;中度心理问题(3≤因子分<4)为1.7%;重度心理问题(4≤因子分<5)为0.2%。心理问题以强迫、人际敏感、偏执、忧郁、敌对、焦虑等心理问题最为突出。③16种人格因素问卷中,贫困生乐群性、聪慧性、兴奋性、敏感性、怀疑性上得分低于非贫困生,有恒性、忧虑性、独立性得分高于非贫困生(贫困生:5.20±1.77,4.70±1.93,5.49±1.87,6.46±1.79,4.29±1.71,4.60±1.63,6.64±1.82,5.07±1.82;非贫困生:5.39±1.74,4.95±1.99,5.82±1.91,6.66±1.75,4.55±1.77,4.36±1.69,6.43±1.94,4.89±1.77,P<0.05～0.01)。④影响贫困生心理健康水平的主要人格因素按其影响作用从大到小有怀疑性、忧虑性、稳定性、兴奋性、自律性。结论:福建省高校贫困大学生的心理健康状况令人担忧,其人格特征对心理健康水平有重要影响。