Exploratory data from complete genomes of familial alzheimer disease age‐at‐onset outliers

Identifying genes that modify the age at onset (AAO) of Alzheimer disease and targeting them pharmacologically represent a potential treatment strategy. In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzheimer disease due to the autosomal dominant mutation p.Glu280Ala in PSEN1 (MIM# 104311; NM_000021.3:c.839A>C). The disease and its AAO are highly heritable, motivating our search for genetic variants that modulate AAO. The median AAO of dementia in carriers of the mutant allele is 49 years. Extreme phenotypic outliers for AAO in this genetically isolated population with limited environmental variance are likely to harbor onset modifying genetic variants. A narrow distribution of AAO in this kindred suggests large effect sizes of genetic determinants of AAO in these outliers. Identity by descent (IBD) analysis and a combination of bioinformatics filters have suggested several candidate variants for AAO modifiers. Future work and replication studies on these variants may provide mechanistic insights into the etiopathology of Alzheimer disease. Hum Mutat 33:1630–1634, 2012. © 2012 Wiley Periodicals, Inc.     

Delayed granulomatous reaction and cutaneous fistula induced by retained electrodes from a cardiac pacemaker in a child

Permanent epicardial pacing wires are sometimes left in place and can lead to long‐term complications. We report on a case of a granulomatous reaction with a cutaneous fistula secondary to the retained epicardial pacing wires in a child and highlight the relevance of sonography as an additional tool in the diagnosis and management of dermatologic conditions.     

Evolution of porosity during in vitro hydroxycarbonate apatite growth in sol-gel glasses

A bioactive glass of composition (mol %) SiO(2) 58, CaO 36, P(2)O(5) 6 was obtained using the sol-gel method. Changes in porosity during the growth of a hydroxycarbonate apatite (HCA) phase were studied at different stages of the process. The high Ca (II) content led to a higher degree of porosity and enhancement of Ca(2+) released from surface and bulk when the glass was soaked into simulated body fluid (SBF). Saturation of the media (SBF) together with the porosity of the material led to fast growth of HCA on the surface and into the pores.     

Effect of streptozotocin on reactive oxygen species and antioxidant enzyme secretion in rat submandibulary glands: a direct and an indirect relationship between enzyme activation and expression

The salivary glands are important exocrine and endocrine organs, whose role in oral health is well recognized. Also these glands contribute to the maintenance of systemic health. During diabetes an impairment of salivary glands is reported. In this work the oxidative stress produced after 10days of a single dose of streptozotocin administration in rats was observed in submandibulary glands. Under this condition a misbalance of the enzymes with antioxidant activity was observed in glands and in incubation medium, as well as in reactive oxygen species such as hydrogen peroxide (H(2)O(2)), superoxide anion (O(2)(-)) and nitric oxide (NO). An increase of NO and H(2)O(2) and a decrease of O(2)(-) were found. A direct relationship between peroxidase and nitric oxide synthase (iNOS) activities with enzyme expression was recorded, in contrast an inverse relationship between superoxide dismutase activity and expression was observed. If the high level of H(2)O(2) persists in time as well as a low level of peroxidase, oral pathologies are expected to occur. So, under this situation to study the modulation of enzymes involved in reactive oxygen species metabolism during oxidative stress in oral tissues could be very important in the managing of oral pathologies.     

From the black widow spider to human behavior: Latrophilins,a relatively unknown class of G protein‐coupled receptors,are implicated in psychiatric disorders

The findings of a recent study associate LPHN3, a member of the latrophilin family, with an increased risk of developing attention deficit/hyperactivity disorder (ADHD), the most common psychiatric disorder in childhood and adolescence. Latrophilins comprise a new family of G protein‐coupled receptors of unknown native physiological function that mediate the neurotoxic effects of α‐latrotoxin, a potent toxin found in black widow spider venom. This receptor–toxin interaction has helped to elucidate the mechanistic aspects of neurotransmitter and hormone release in vertebrates. Such unprecedented discovery points to a new direction in the assessment of ADHD and suggest that further study of this receptor family may provide novel insights into the etiology and treatment of ADHD and other related psychiatric conditions. © 2010 Wiley‐Liss, Inc.     

Occupational health legislation and practices related to seafarers on passenger ships focused on communicable diseases: results from a European cross-sectional study (EU SHIPSAN PROJECT)

Background  

Seafarers play an important role in the transmission of communicable diseases. The aim of the present study is to draw information and identify possible gaps on occupational health practices related to seafarers sailing on ships within the European Union Member States (EU MS) with focus on communicable diseases.