Transgenic rat model of Huntington's disease

Huntington's disease (HD) is a late manifesting neurodegenerative disorder in humans caused by an expansion of a CAG trinucleotide repeat of more than 39 units in a gene of unknown function. Several mouse models have been reported which show rapid progression of a phenotype leading to death within 3-5 months (transgenic models) resembling the rare juvenile course of HD (Westphal variant) or which do not present with any symptoms (knock-in mice). Owing to the small size of the brain, mice are not suitable for repetitive in vivo imaging studies. Also, rapid progression of the disease in the transgenic models limits their usefulness for neurotransplantation. We therefore generated a rat model transgenic of HD, which carries a truncated huntingtin cDNA fragment with 51 CAG repeats under control of the native rat huntingtin promoter. This is the first transgenic rat model of a neurodegenerative disorder of the brain. These rats exhibit adult-onset neurological phenotypes with reduced anxiety, cognitive impairments, and slowly progressive motor dysfunction as well as typical histopathological alterations in the form of neuronal nuclear inclusions in the brain. As in HD patients, in vivo imaging demonstrates striatal shrinkage in magnetic resonance images and a reduced brain glucose metabolism in high-resolution fluor-deoxy-glucose positron emission tomography studies. This model allows longitudinal in vivo imaging studies and is therefore ideally suited for the evaluation of novel therapeutic approaches such as neurotransplantation.     

血管内介入治疗脑动静脉畸形

目的 探讨血管内栓塞治疗脑动静脉畸形(AVM)的临床效果和安全性．方法 应用血管内栓塞治疗脑AVMll例，栓塞剂为NBCA，栓塞后3例行手术切除，3例行γ-刀治疗．结果 1例完全栓塞，5例栓塞70％—90％，3例栓塞50％—70％，2例栓塞小于50％．生活、工作完全正常治愈5例，症状明显改善4例，症状无改善2例．结论 血管内栓塞治疗脑AVM的方法是相对安全的，可治愈部分脑AVM，对于大型、重要功能区的脑AVM，血管内栓塞联合手术或放疗可提高治愈率，降低致残率和死亡率．     

Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter

We describe here a 3-year-old girl demonstrating combined cellular immunodeficiency of B- and T-cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. The association of cellular immunodeficiency and partial deletion 11q and/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one-third to one-half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23-q24 region. Our case narrows down the critical interval for thrombo- or pancytopenia to 11q23.3-q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient.     

TCRVβ7.1基因修饰T细胞对乳腺癌细胞杀伤作用的研究

目的：观察TCPVβ7．1基因转染前后正常人外周血淋巴细胞对乳腺癌细胞株杀伤活性的影响。方法：脂质体包裹PdWA3.1vβ7.1后转染健康人PBMC，流式细胞仪检测PdWA3.1Vβ7.1基因表达，改良MIT法检测TCRVβ7．1基因转染前后正常人外周血淋巴细胞对乳腺癌细胞株杀伤活性。结果：TCRVβ7．1基因转染可显著增加正常人PBMC该基因表达，转染前后正常人外周血淋巴细胞对乳腺癌细胞株杀伤活性有显著性差异。结论：用TCR基因修饰可明显提高正常人PBMC对乳腺癌细胞杀伤作用。     

Beeinflußt das geschlecht die zuweisung zur stationären psychiatrischen behandlung?

Zusammenfassung In Mannheim wurde im Jahre 1968 mit dem schrittweisen Aufbau eines gemeindenahen psychiatrischen Versorgungssystems begonnen. Bestandteil dieses Versorgungskonzepts sind Absprachen zwischen den beteiligten stationären Einrichtungen, die die Zuweisung der Patienten zur stationären Behandlung regeln. Eine modellgestützte, multivariate Analyse von Inanspruchnahmedaten einer Kohorte von 126 schizophrenen Patienten weist nach, daß die Ungleichverteilung der Geschlechter auf die Institutionen das Ergebnis dieser Absprache ist; dabei sind Krankheitsdauer und die Art der Zuweisung von entscheidender Bedeutung.Die vorliegende Arbeit entstand im Rahmen eines von der Deutschen Forschungsgemeinschaft geförderten Projekts im Sonderforschungsbereich 116 Psychiatrische Epidemiologie der Universität Heidelberg (Sprecher: Prof. Dr. Dr. M. Schmidt)     

The contribution of European case registers to research on schizophrenia

Psychiatric case registers have become important instruments for epidemiological research and for the evaluation of care provided for persons suffering from schizophrenia. Under the condition of a sufficient provision of care, case registers permit relatively reliable estimates of "treated" incidence and prevalence, and enable the investigation of associations between morbidity risks, disease courses, and variables such as ecological, social, and occupational factors. The linkage with twin, adoption, and birth registers provides new opportunities for the investigation of the impact of genetic versus environmental factors on the probability of becoming ill with schizophrenia. On the basis of long-term utilization figures, case registers enable a valid measure for controlling utilization, effectiveness, quality, and costs of care. Because case registers take demographic and regional factors into account, they enable better planning of mental health services--a task that grows more important with the shift from hospital-based to community-based treatment, especially for the chronic patients.     

Analytical Assessment and Nutritional Adequacy of School Lunches in Sintra’s Public Primary Schools

School meals present several cost benefits overtime at the short, medium, and long term for individuals and society. This cross-sectional study aims to analyse the nutritional composition and evaluate the adequacy of school lunches. One hundred and fifty-eight samples were collected and analysed from 10 primary schools in Sintra’s municipality, served during one week. On average, energy (27.7% daily energetic requirements) and carbohydrate (48.1%) contents did not reach the reference values, and the content of protein (19.5%) exceeded the reference value (p < 0.05). The mean total fat (28.8%) and saturated fatty acids (5.4%) content complied with the recommendations. The mean salt (1.7 g) and dietary fibre (8.3 g) content exceeded the reference value but did not differ significantly from the recommendations. Addressing school canteens is crucial, not only in a nutritional approach, but also as an opportunity to achieve healthier, sustainable, and accessible food systems, aligned with the Sustainable Development Goals 2030. We highlighted the importance of evaluating evidence-based practices and disseminated practice-based evidence regarding the adequacy of school lunches.     

Sexual Contact as Risk Factor for Campylobacter Infection,Denmark

Campylobacteriosis is a disease of worldwide importance, but aspects of its transmission dynamics, particularly risk factors, are still poorly understood. We used data from a matched case-control study of 4,269 men who have sex with men (MSM) and 26,215 controls, combined with national surveillance data on Campylobacter spp., Salmonella spp., and Shigella spp., to calculate matched odds ratios (mORs) for infection among MSM and controls. MSM had higher odds of Campylobacter (mOR 14, 95% CI 10–21) and Shigella (mOR 74, 95% CI 27–203) infections, but not Salmonella (mOR 0.2, 95% CI 0–13), and were less likely than controls to have acquired Campylobacter infection abroad (χ² = 21; p<0.001). Our results confirm that sexual contact is a risk factor for campylobacteriosis and also suggest explanations for unique features of Campylobacter epidemiology. These findings provide a baseline for updating infection risk guidelines to the general population.     

两种环磷酰胺冲击方案对狼疮性肾炎的疗效和肿瘤坏死因子的影响

目的：探讨大剂量环磷酰胺静脉冲击治疗狼疮性肾炎（LN）的合理方案及对肿瘤坏死因子（TNF）水平的影响,方法：将51例LN患者分为A,B两组,分别给予2周（A组）和4周（B组）一次环磷酰胺静脉冲击治疗（IV－CYC）,每次用量0．5－1．0g/m2,同时口服强的松1mg.kg^-1.d^-1。用ELISA双抗体夹心法检测LN患者血清和尿TNF水平。结果：A组病情缓解率显著高于B组（P＜0．05）,活动期LN患者血清和尿TNF水平显著高于稳定期,轻度肾功不全患者血清TNF水平显著高于肾功正常者（P＜0．05）,结论：IV－CYC加强的松治疗能显著降低LN患者TNF水平且2周方案优于4周方案,治疗中应根据病情,外周白细胞数和肾功能调整,重症和急进期LN每2周1次,病情轻者可每4周1次,血清和尿TNF的变化有助于监测狼疮活动和肾损害程度。     

新生儿硬肿症播散性血管内凝血和肺出血的研究及其临床意义

目的 :探讨不同病情硬肿症播散性血管内凝血 (DIC)的出凝血功能改变 ,为合理治疗提供理论依据。方法 :比较观察组 10 0例和对照组 5 0例 5项出凝血指标检测结果。结果 :观察组不同病情之间比较 :凝血酶原时间 ,3P试验 ,血小板计数和外周血红细胞形态无显著性差异 (P均 >0 0 5 ) ;试管法凝血时间比较 ,有显著性差异 (P <0 0 5 )。观察组与对照组 5项指标比较有非常显著性差异 (P <0 0 1)。结论 :新生儿硬肿症存在播散性血管内凝血的出凝血功能改变 ,病情越重改变越明显 ,越易合并DIC、肺出血 ,病死率也越高 ,硬肿症早期血液多呈现高凝状态 ,DIC的晚期多呈现低凝状态。早期肝素治疗 ,不仅可改变血液的出凝血状态 (高凝状态 ) ,而且是防治DIC ,肺出血 ,提高治愈率的有效途径。治疗硬肿症加强综合支持疗法 ,尤其是维持内环境稳定纠正酸中毒切不可忽视 ,否则肝素在酸性环境中灭活失效