Fetal-onset IPEX: report of two families and review of literature.

Early-life autoimmunity is an IPEX characteristic, however intrauterine forms had not yet been described. Here, two unrelated families with clear evidence of fetal-onset IPEX are reported. One had 5 miscarriages of males in two generations, and a newborn presenting type-1 diabetes mellitus immediately after birth, diarrhea, thrombocytopenia, eczematous dermatitis, eosinophilia, high IgE levels and autoantibodies to pancreatic islet antigens at 4-days-old.

Ancillary benefits of antenatal ultrasound: an association between the introduction of a low-cost ultrasound program and an increase in the numbers of women receiving recommended antenatal treatments.

Background: In June of 2010, an antenatal ultrasound program was introduced to perform basic screening examinations at a health care clinic in rural Uganda. The impact of the program on the existing antenatal care infrastructure including the proportion and number of women receiving recommended antenatal care at clinic visits was unknown. The aim of this study was to investigate the relationship between the advent of the ultrasound program and the proportion of women receiving recommended antenatal interventions at their clinic visits.

Time-resolved fluorescence in lipid bilayers: selected applications and advantages over steady state.

Fluorescence methods are versatile tools for obtaining dynamic and topological information about biomembranes because the molecular interactions taking place in lipid membranes frequently occur on the same timescale as fluorescence emission. The fluorescence intensity decay, in particular, is a powerful reporter of the molecular environment of a fluorophore. The fluorescence lifetime can be sensitive to the local polarity, hydration, viscosity, and/or presence of fluorescence quenchers/energy acceptors within several nanometers of the vicinity of a fluorophore.

High-grade cervical lesions among women attending a reference clinic in Brazil: associated factors and comparison among screening methods.

Background: Although screening for cervical cancer is recommended for women in most countries, the incidence of cervical cancer is greater in developing countries. Our goal was to determine the prevalence and factors associated with high-grade lesions/cervical cancer among women attending a reference clinic in Brazil and evaluate the correlation of histology with cytology, colposcopy and the high-risk HPV (HR-HPV) tests.

Methods: A cross-sectional study of women attending a colposcopy clinic was carried out.

Ebola outbreak response; experience and development of screening tools for viral haemorrhagic fever (VHF) in a HIV center of excellence near to VHF epicentres.

Introduction: There have been 3 outbreaks of viral hemorrhagic fever (VHF) in Uganda in the last 2 years. VHF often starts with non-specific symptoms prior to the onset of haemorrhagic signs. HIV clinics in VHF outbreak countries such as Uganda see large numbers of patients with HIV 1/2 infection presenting with non-specific symptoms every day.

Validity of heart rate indexes to assess wheeling efficiency in patients with spinal cord injuries.

Study Design: Cross-sectional study.

Objectives: To validate heart rate (HR) indexes for the evaluation of energy expenditure during wheelchair propulsion in people with spinal cord injury (SCI).

Setting: SARAH Rehabilitation Hospital Network-Brasilia, Brazil.

Reproducibility and responsiveness of heart rate indexes to assess wheeling efficiency in patients with spinal cord injuries.

Study Design: Cross-sectional study.

Objectives: To measure the reproducibility and responsiveness of heart rate indexes in measuring energy expenditure during wheelchair locomotion of adults with spinal cord injury (SCI).

Setting: SARAH Rehabilitation Hospital Network-Brasilia, Brazil.

Euro 2012 European Football Championship Finals: planning for a health legacy.

The revised international health regulations offer a framework that can be used by host countries to organise public health activities for mass gatherings. From June 8, to July 1, 2012, Poland and Ukraine jointly hosted the Union of European Football Associations European Football Championship Finals (Euro 2012). More than 8 million people from around the world congregated to watch the games.

Endoscopic bilio-duodenal bypass: outcomes of primary and revision efficacy of combined metallic stents in malignant duodenal and biliary obstructions.

Background: Self-expandable metal stents (SEMSs) can be used for palliation of combined malignant biliary and duodenal obstructions. However, the results of the concomitant stent placement for the duration of the patients' lives, as well as the need for and efficacy of endoscopic revision, are unclear.

Aim: This study evaluated the clinical effectiveness of SEMS placement for combined biliary and duodenal obstructions throughout the patients' lives and the need for endoscopic revision.

Molecular tumor board: the University of California-San Diego Moores Cancer Center experience.

Objective: DNA sequencing tests are enabling physicians to interrogate the molecular profiles of patients' tumors, but most oncologists have not been trained in advanced genomics. We initiated a molecular tumor board to provide expert multidisciplinary input for these patients.

Materials And Methods: A team that included clinicians, basic scientists, geneticists, and bioinformatics/pathway scientists with expertise in various cancer types attended.

Long-term lithium treatment reduces glucose metabolism in the cerebellum and hippocampus of nondemented older adults: an [¹⁸F]FDG-PET study.

Lithium modulates several intracellular pathways related to neuroplasticity and resilience against neuronal injury. These properties have been consistently reported in experimental models, and involve the up-regulation of neurotrophic response and autophagy, and down-regulation of apoptosis, oxidative stress, and inflammation. Clinical and epidemiological studies in bipolar disorder show that acute treatment with lithium increases plasma concentrations of brain-derived neurotrophic factor, and long-term treatment lowers the risk of dementia.

Exploring homo-FRET to quantify the oligomer stoichiometry of membrane-bound proteins involved in a cooperative partition equilibrium.

The establishment of protein-protein interactions between membrane-bound proteins is associated with several biological functions and dysfunctions. Here, an analytical framework that uses energy homo transfer to directly probe quantitatively the oligomerization state of membrane-bound proteins engaged in a three-state cooperative partition is presented. Briefly, this model assumes that monomeric protein molecules partition into the bilayer surface and reversibly assemble into oligomers with k subunits.

AmericaPlex26: a SNaPshot multiplex system for genotyping the main human mitochondrial founder lineages of the Americas.

Phylogeographic studies have described a reduced genetic diversity in Native American populations, indicative of one or more bottleneck events during the peopling and prehistory of the Americas. Classical sequencing approaches targeting the mitochondrial diversity have reported the presence of five major haplogroups, namely A, B, C, D and X, whereas the advent of complete mitochondrial genome sequencing has recently refined the number of founder lineages within the given diversity to 15 sub-haplogroups. We developed and optimized a SNaPshot assay to study the mitochondrial diversity in pre-Columbian Native American populations by simultaneous typing of 26 single nucleotide polymorphisms (SNPs) characterising Native American sub-haplogroups.

Electrostatically driven lipid-lysozyme mixed fibers display a multilamellar structure without amyloid features.

Understanding the interactions between anionic lipid membranes and amyloidogenic proteins/peptides is key to elucidate the molecular mechanisms underlying the membrane-driven amyloid fiber formation. Here, hen egg-white lysozyme was used as a model protein to test whether this same process also occurs with non-amyloidogenic lipid-binding proteins/peptides. A complementary set of biophysical techniques was employed to study the structure and dynamics of the lipid-lysozyme mixed fibers produced at a low lipid/protein molar ratio that have been proposed earlier to present "amyloid-like" characteristics.

Disseminated histoplasmosis in HIV-infected patients: determinants of relapse and mortality in a north-eastern area of Brazil.

Many relapses and deaths resulting from disseminated histoplasmosis (DH) in acquired immunodeficiency syndrome (AIDS) patients have been observed in an endemic area in north-eastern Brazil. The objective of this study was to evaluate the risk factors associated with the clinical outcomes of DH/AIDS coinfection in patients from the state of Ceará, Brazil. A retrospective cohort of AIDS patients, after their hospital discharge due to first DH episode in the period 2002-2008, was followed until December 31, 2010, to investigate the factors associated with relapse and mortality.

Randomized phase III trial exploring the use of long-acting release octreotide in the prevention of chemotherapy-induced diarrhea in patients with colorectal cancer: the LARCID trial.

Purpose: Chemotherapy-induced diarrhea (CID) is a relatively common adverse event in the treatment of patients with colorectal cancer. The LAR for Chemotherapy-Induced Diarrhea (LARCID) trial evaluated the efficacy and safety of long-acting release octreotide (octreotide LAR) for the prevention of CID in this population.

Patients And Methods: Patients with colorectal cancer starting adjuvant or first-line treatment with a chemotherapy combination containing fluorouracil, capecitabine, and/or irinotecan were randomly assigned to receive octreotide LAR 30 mg intramuscularly every 4 weeks (experimental arm) or the physician's treatment of choice in case of diarrhea (control arm).

Adverse events profile of PrePex a non-surgical device for adult male circumcision in a Ugandan urban setting.

Background: Safe Male Circumcision is a proven approach for partial HIV prevention. Several sub Saharan African countries have plans to reach a prevalence of 80% of their adult males circumcised by 2015. These targets require out of ordinary organization, demand creation, timely execution and perhaps the use of SMC devices.

Home-based versus clinic-based care for patients starting antiretroviral therapy with low CD4⁺ cell counts: findings from a cluster-randomized trial.

Objectives: African health services have shortages of clinical staff. We showed previously, in a cluster-randomized trial, that a home-based strategy using trained lay-workers is as effective as a clinic-based strategy. It is not known whether home-based care is suitable for patients with advanced HIV disease.

Paraneoplastic limbic encephalitis with prominent neuropsychiatric apathy.

The spectrum of paraneoplastic neurologic syndromes has increased with the description of encephalitis associated with antibodies against cell surface and synaptic proteins. Subacute cognitive impairment, movement disorders, late onset epilepsy and neuropsychiatric syndromes were recently linked to paraneoplastic encephalitis. Despite that, probably some syndromes and antibodies are yet to be reported.

NOS2 variants reveal a dual genetic control of nitric oxide levels, susceptibility to Plasmodium infection, and cerebral malaria.

Nitric oxide (NO) is a proposed component of malaria pathogenesis, and the inducible nitric oxide synthase gene (NOS2) has been associated to malaria susceptibility. We analyzed the role of NOS2 polymorphisms on NO bioavailability and on susceptibility to infection, Plasmodium carrier status and clinical malaria. Two distinct West African sample collections were studied: a population-based collection of 1,168 apparently healthy individuals from the Príncipe Island and a hospital-based cohort of 269 Angolan children.

Ca(2+) induces PI(4,5)P2 clusters on lipid bilayers at physiological PI(4,5)P2 and Ca(2+) concentrations.

Calcium has been shown to induce clustering of PI(4,5)P2 at high and non-physiological concentrations of both the divalent ion and the phosphatidylinositol, or on supported lipid monolayers. In lipid bilayers at physiological conditions, clusters are not detected through microscopic techniques. Here, we aimed to determine through spectroscopic methodologies if calcium plays a role in PI(4,5)P2 lateral distribution on lipid bilayers under physiological conditions.

Old dogs and new tricks: defective peripheral regulatory T cell generation in aged mice.

Tolerance is a developmentally acquired property of the vertebrate immune system, in part ensured by regulatory CD4⁺ lymphocytes (Treg cells) expressing the Foxp3 transcription factor. Recent work has shown that thymic emigrants are the preferential source of peripherally generated Treg cells. A new report in this issue of the European Journal of Immunology [Eur.

Quantifying lipid-protein interaction by fluorescence correlation spectroscopy (FCS).

Fluorescence correlation spectroscopy (FCS) is a powerful method to investigate molecular interactions based on the variation of diffusion properties at the single-molecule level. This technique allows studying quantitatively the interaction of fluorescently labeled proteins/peptides with lipid vesicles. Here, we describe how to acquire and analyze FCS partition data in order to accurately determine the protein/peptide partition coefficients between the aqueous and lipid phases.