INVASIVE MUCORMYCOSIS WITH GASTRIC INVOLVEMENT IN A PATIENT WITH SEVERE ATHEROMATOUS VASCULAR DISEASE

Gastric mucormycosis involvement is a rare condition that usually occurs in inmunocompromised patients and frequently has a fatal outcome. We report the case of a 73‐year‐old woman admitted to the intensive care unit with severe bleeding after an acute pulmonary disease. Upper endoscopy disclosed wide and deep necrotic ulcers in the body and fundus of the stomach and greenish exudates with the antrum and the duodenum undamaged. Autopsy revealed an invasive mucormycosis and a severe atheromatosis. Several predisposing factors for mucormycosis infection have been reported until now. We postulate that ischemic gastritis could be a predisposing factor for colonization of zygomycete.     

Mediating effects of social support on firefighters' sense of community and perceptions of care

This study examined the relationship between psychological sense of community, social‐support networks, and care‐giver stress and satisfaction among firefighters. No significant gender differences were obtained, but zero‐order correlates demonstrated significant relationships among all four variables. In examining the mediating effects of social‐support satisfaction, partial mediation for psychological sense of community on care‐giver satisfaction was determined, as well as full mediation for psychological sense of community on care‐giver stress. Therefore, firefighters who are satisfied with the support they receive may experience less stress with their care giving than those who experience low levels of support satisfaction. Future studies should assess these relationships more extensively in other areas of civic responsibility among public‐service employees to delineate effective support avenues. © 2004 Wiley Periodicals, Inc. J Comm Psychol 32: 121–126, 2004.     

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.     

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.