Chronic Progressive Autonomic Dysfunction in a Dog

A 3.5‐year‐old intact male American Pit Bull was presented because of urinary incontinence and dysuria. Constipation, followed by diarrhoea, ocular disturbances and finally regurgitation developed over the next 4 years. Autonomic dysfunction was evidenced by clinical presentation, as well as positive ophthalmic pilocarpine test and subnormal Schirmer tear test. Diagnosis, however, was established through histopathological and immunohistochemical examination. Lesions attributable to inflammatory degenerative neuropathy of the autonomic ganglia, which represents one of the various types of human autonomic failure, were detected.     

Exanthematous infantile psoriasis

Childhood psoriasis is a disease with manifold clinical presentations which can make the correct diagnosis sometimes difficult. In a female infant, slightly itching, erythematous papules and plaques with discrete scaling spread over large parts of the integument starting from age three months. Histological examination supported the diagnosis of exanthematous infantile psoriasis. Topical treatment with dithranol in petrolatum led to slow clearance of the skin lesions.     

Empfehlungen für die Anwendung der Immunapherese bei der Therapie bullöser Autoimmundermatosen

The etiology of epidermolysis bullosa acquisita (EBA) is unknown. EBA may be associated with other autoim‐mune systemic diseases; it also has been described in connection with different malignant tumors, showing complete remission after successful treatment of the tumor.In such cases, EBA may be regarded as a paraneo‐plastic dermatosis. We detected a highly differentiated neuroendocrine pancreatic cancer in a 78‐year‐old woman with EBA. Even thought her tumor was completely removed and the patient has been disease‐free for over seven years, a complete regression of her autoimmune bullous dermatosis could not be induced. By using intravenous immunoglobulins in combination with mycophenolate mofetil, further blister formation could be ameliorated.     

A -243A-->G polymorphism upstream of the gene encoding GAD65 associates with lower levels of body mass index and glycaemia in a population-based sample of 5857 middle-aged White subjects.

AIMS: The glutamate decarboxylase gene (GAD2) encodes GAD65, an enzyme catalysing the production of the gamma-aminobutyric acid (GABA) which interacts with neuropeptide Y to stimulate food intake. It has been suggested that in pancreatic islets, GABA serves as a functional regulator of pancreatic hormone release. Conflicting results have been reported concerning the potential impact of GAD2 variation on estimates of energy metabolism. The aim of this study was to elucidate potential associations between the GAD2-243A-->G polymorphism and levels of body mass index (BMI) and estimates of glycaemia. METHODS: Using high-throughput chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, the GAD2-243A-->G (rs2236418) polymorphism was genotyped in a population-based sample (Inter99) of 5857 middle-aged, unrelated Danish White subjects. RESULTS: The G-allele was associated with modestly lower BMI (P = 0.01). In a case-control study of obesity, the G-allele frequency in 2582 participants with BMI < 25 kg/m2 was 19.5% (18.4-20.6) compared with 17.1% (15.5-18.8) in 968 participants having BMI > or = 30 kg/m2 (P = 0.03), odds ratio 0.9 (0.7-1.0). Of the 5857 subjects, GG carriers had lower fasting plasma glucose levels (mmol/l) [AA (n = 3859) 5.6 +/- 0.8; AG (n = 1792) 5.5 +/- 0.8; GG (n = 206) 5.5 +/- 0.8, P = 0.008] and lower 30-min oral glucose tolerance test (OGTT)-related plasma glucose levels (AA 8.7 +/- 1.9; AG 8.6 +/- 1.9; GG 8.6 +/- 2.0, P = 0.04), adjusted for sex, age and BMI. Analysing subjects who were both normoglycaemic and glucose tolerant (n = 4431) GG carriers still had lower fasting plasma glucose concentrations: AA (n = 2895) 5.3 +/- 0.4; AG (n = 1383) 5.3 +/- 0.4; GG (n = 153) 5.2 +/- 0.4 (P = 9.10(-5)). CONCLUSION: The present study suggests that the GAD2-243A-->G polymorphism in a population of middle-aged White people associates with a modest reduction in BMI and fasting and OGTT-related plasma glucose levels.     

造影剂到达腹主动脉的峰值大小与患者因素的关系

目的探讨造影剂到达腹主动脉的峰值大小与患者因素之间的关系。方法108例患者以2.5ml/s注射欧乃派克(300mgI/ml)20ml,12s后采用testbolus技术在腹腔干水平同层动态扫描腹主动脉,用dynamic evaluation软件测得腹主动脉的峰值大小,采用单因素回归分析和多因素逐步回归分析法研究患者的性别、年龄、身高、体重、心率、血压、注射位点、达峰时间及是否有心脏病、糖尿病、或化疗史对造影剂到达腹主动脉峰值大小是否有影响及影响程度。结果造影剂到达腹主动脉峰值大小,在男性平均比女性低;其随年龄、身高、体重、达峰时间的增加而逐渐降低,注射位点在手背静脉其值平均比在肘部静脉低;其不受心率、血压、是否有心脏病、糖尿病或化疗史的影响。参考公式:峰值大小(HU)=383.8400-身高(cm)×1.0909-体重(kg)×0.6760 注射位点×16.7878-达峰时间(s)×1.6882。结论可根据患者的性别、年龄、身高、体重、注射位点和达峰时间来适当调整患者CT血管成像时造影剂用量。     

军人花粉症106例快速免疫治疗

目的　探讨军人花粉症治疗的有效方法。方法　采用提高起始浓度和快速递增浓度 ,上臂外侧皮下注射的方法对 10 6位军人花粉症患者行快速免疫治疗 ,并对每一位患者治疗前后检测血清中总IgE和嗜酸细胞阳离子蛋白 (ECP)。 结果　治疗前后患者总IgE和ECP值有显著性差异。 10 6例患者经 1～ 3年随访复查 ,78例 2个以上发病季节未发作 ,或仅有轻微鼻痒、眼痒 ,18例症状减轻 ,发病时间缩短半月 ,10例症状无明显改善。显效 82例 ,有效 14例 ,无效 10例 ,总有效率为 90 .5 7%。结论　快速免疫治疗能使患者血清总IgE和ECP下降 ,对军人花粉症疗效好。     

The ordered transmission disequilibrium test: detection of modifier genes

We consider the problem of detection of modifier genes that lead to variations in a disease‐related continuous variable (DRCV), such as the age of onset or a measure of disease severity, in a strategy of candidate genes. We propose a novel method, the ordered transmission disequilibrium test (OTDT), to test for a relation between the clinical heterogeneity expressed by a DRCV and marker genotypes of a candidate gene. The OTDT applies to trio families with one patients and his parents, all three genotyped at a bi‐allelic marker M. The OTDT aims to find a critical value of the DRCV which separates the sample of families in two subsamples in which the transmission rates are significantly different. We investigate the power of the method by simulations under various genetic models and covariate distributions and compare it with a linear regression analysis. Genet. Epidemiol. 2008. ©2008 Wiley‐Liss, Inc.     

Longitudinal analysis of the relation between moderate long‐term stress and health

The main goal of the present work was to longitudinally examine consequences of long‐term moderately elevated levels of stress for various health outcomes. To address this issue, data covering 10 years was used from the ongoing Swedish population‐based prospective Betula Study. Based on the ratings on a validated self‐reported stress scale, matched subsamples between 40 and 65 years of age were divided into a high (n = 137) and low (n = 211) stress group. The reported incidence of cardiovascular, diabetes, psychiatric, tumour and musculoskeletal diseases was assessed 5 and 10 years after baseline (baseline = 1993–1995) without contaminating effects of past health history. The incidence of diseases 5 years after baseline assessment showed no differences between the groups. After 10 years, there was a significantly higher incidence of psychiatric diseases, mainly depression in the high‐stress group as well as a significant effect for tumours, although the number of cases was low. Although moderately elevated stress level may have a possible impact on psychiatric diseases especially depression and some tumours, it seems that prolonged moderate stress does not appear to be harmful to other stress‐related diseases. Copyright © 2007 John Wiley & Sons, Ltd.     

A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.