Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

Idiopathic torsion dystonia (ITD) is a group of movement disorders which is usually inherited in an autosomal dominant manner with reduced penetrance. Most patients with ITD present with focal dystonia at adult age. However, thus far, this common subform remained unmapped chromosomally. In contrast, a rare early onset, more generalized form of ITD has been mapped to chromosome 9q34. Our linkage study in a large pedigree with seven definitely affected, six possibly affected and 16 phenotypically unaffected family members assigns an ITD gene for the common focal form with a maximal lod score of 3.17 to the region telomeric of D18S1153 on chromosome 18p.      

Information provided by the skeletal muscle and associated neurons is necessary for proper brain development

Previously, motor cortex of term Myf5(-/-):MyoD(-/-) fetuses (e.g. have ablated skeletal myogenesis and consequent early loss of lower motor and proprioceptive neurons) was found to lack giant pyramidal cells. We further investigated how the absence of the extrinsic stimuli from the lacking structures influences brain development. Apparently normal motor cortex of mutant fetuses was found to have dramatically reduced presence of nestin-expressing processes of neural precursors, calretinin-expressing pyramidal neurons and calbindin-expressing neurons. Consistently, some areas of the extrapyramidal tract had significantly decreased number of differentiated neurons in mutant brains. Surprisingly, we were unable to detect any change in proliferation or cell death in the mutant neuroepithelium. Together, it appears that the information provided by the lacking structures influences the ratios of the differentiated neuronal types and their progenitor cells.     

Predictors and reasons for help-seeking behavior among women with urinary incontinence

Introduction and hypothesis

The aim of the study was to evaluate the predictors and reasons for help-seeking behavior among women with urinary incontinence (UI) in Germany and Denmark.

Methods

This international postal survey was conducted in 2014. In each country, 4,000 women of at least 18 years of age were randomly selected. The questionnaires included validated items regarding help-seeking behavior and the ICIQ-UI SF. UI was defined as any involuntary loss of urine. Binary logistic regression analysis was used to assess factors predicting help-seeking behavior. Reasons for seeking or not seeking help were evaluated in terms of the severity of UI and as the most frequently reported.

Results

Of 1,063 Danish women with UI, 25.3% had consulted a physician compared with 31.4% of 786 German women with UI (p = 0.004). The severity and duration of UI, and actively seeking information regarding UI, were significant independent predictors of help-seeking behavior. Women with slight/moderate UI did not seek help because they did not consider UI as a problem, whereas of women with severe/very severe UI, German women reported that other illnesses were more important and Danish women reported that they did not have enough resources to consult a physician.

Conclusions

Only a small proportion of women with UI had consulted a physician, and the driving forces for help-seeking behavior were severity and duration of UI and actively seeking information regarding UI. Public information campaigns might enhance consultation rates providing that passively receiving and actively seeking information have the same effects on help-seeking behavior. We show for the first time that reasons for not consulting a physician for UI vary depending on the severity of the UI.

     

Community-acquired <Emphasis Type="Italic">Clostridium difficile</Emphasis> infection in Serbian pediatric population

Carriage of Clostridium (C.) difficile in the intestinum of children, as well as its role in the disease (diarrhea) onset, is still controversial. The aim of this study is to investigate the community-acquired Clostridium difficile infection (CA-CDI) in Serbian pediatric population and to describe the basic clinical characteristics and risk factors for CA-CDI occurrence in Serbian pediatric population. The data obtained from 63 Serbian pediatric patients with CA-CDI and from control group of 126 children with community-acquired diarrhea, whose stool specimens were negative for C. difficile and toxins A/B, were mutually compared. In the current work, we found that children with CA-CDI display a significantly less severe disease clinical presentation than children with diarrheas of other origin. Lethal outcome was noted in two cases, but in children with severe underlying diseases (Crohn’s disease and leukemia). By using the multivariate statistical regression model, the following statistically significant risk factors for community-acquired C. difficile-associated diarrhea development were determined: previous application of laxatives (OR?=?0.199, CI 0.55–0.79, p?=?0.015), general antibiotic use during the previous 2 months (OR?=?0.05, CI 0.02–0.17, p?<?0.001), and specifically the use of penicillins (OR?=?0.112, CI 0.04–0.31, p?<?0.0001) and cephalosporins (OR?=?0.16, CI 40.06–0.44, p?<?0.0001). Antibiotics from the groups of cephalosporins and penicillins were found to be the most important independent risk factors. Laxative application plays a significant role in the community-acquired Clostridium difficile infections in children, with mechanisms that are not completely understood.     

Microbiology of French military casualties repatriated from overseas for an open traumatic injury

Background

This study aimed to describe the microbiological epidemiology of repatriated French soldiers with an open traumatic injury, and to measure the proportion of multidrug-resistant bacteria (MDRB).

NF-κB–mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia

Cachexia is a debilitating condition characterized by extreme skeletal muscle wasting that contributes significantly to morbidity and mortality. Efforts to elucidate the underlying mechanisms of muscle loss have predominantly focused on events intrinsic to the myofiber. In contrast, less regard has been given to potential contributory factors outside the fiber within the muscle microenvironment. In tumor-bearing mice and patients with pancreatic cancer, we found that cachexia was associated with a type of muscle damage resulting in activation of both satellite and nonsatellite muscle progenitor cells. These muscle progenitors committed to a myogenic program, but were inhibited from completing differentiation by an event linked with persistent expression of the self-renewing factor Pax7. Overexpression of Pax7 was sufficient to induce atrophy in normal muscle, while under tumor conditions, the reduction of Pax7 or exogenous addition of its downstream target, MyoD, reversed wasting by restoring cell differentiation and fusion with injured fibers. Furthermore, Pax7 was induced by serum factors from cachectic mice and patients, in an NF-κB–dependent manner, both in vitro and in vivo. Together, these results suggest that Pax7 responds to NF-κB by impairing the regenerative capacity of myogenic cells in the muscle microenvironment to drive muscle wasting in cancer.     

The Role of Hemoglobin Variant Replacement in Retinopathy of Prematurity

Objective  

To conduct tests of relationships between different factors that could influence the course of retinopathy of prematurity (ROP) and ROP, particularly the role of hemoglobin variant replacement in adult blood transfusions.