Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder.

A prospective comparative field study to evaluate the efficacy of a traditional plant-based malaria prophylaxis.

Background: An unceasing threat of resistance of malarial parasites to available antimalarial drugs makes the development of new drugs imperative. Natural plant-based products are an alternative source for discovering new antimalarial drugs.

Aim: To determine the prophylactic efficacy of a traditionally used plant-based drug on prevention of malaria in endemic villages of Odisha, India.

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.

Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC).

HbA1c increase is associated with higher coronary and peripheral atherosclerotic burden in non diabetic patients.

Background And Aims: Prediabetes is associated with an increased risk of developing diabetes and cardiovascular disease. Our objective was to examine the cardiovascular (CV) risk profile of non-diabetic patients with and without prediabetes according to HbA1c, using macroangiopathic imaging biomarkers.

Methods: Our population consisted of 272 non diabetic patients aged between 40 and 70 years, with a normal fasting plasma glucose (FPG <5.

Association between depression and anemia in otherwise healthy adults.

Objective: It remains debated whether anemia is associated with depression, independently of physical health factors. We report a large-scale cross-sectional study examining this association in adults free of chronic disease and medication from the general population.

Method: Hemoglobin levels were measured among 44 173 healthy participants [63% men; mean [standard deviation] age = 38.

Mutation-specific effects on thin filament length in thin filament myopathy.

Objective: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation.

Methods: We investigated the sarcomere length-dependence of force, a functional assay that provides insights into the contractile strength of muscle fibers as well as the length of the thin filaments, in muscle fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3, TNNT1, KBTBD13, KLHL40, and KLHL41.

Health Care Trajectories for Children With ADHD in France: Results From the QUEST Survey.

The objective of this study is to retrospectively describe the pathway toward ADHD diagnosis and treatment, and identify potential areas for improvement. Parent-reported questionnaires were collected by a national sample of ADHD specialists. In total, 473 complete questionnaires were analyzed.

Long-term subcutaneous immunoglobulin use in inflammatory myopathies: A retrospective review of 19 cases.

Subcutaneous immunoglobulin (SCIg) therapy is indicated in primary and secondary immunodeficiency diseases. Its use in practice is being extended to autoimmune diseases. Few studies investigated the feasibility and safety of SCIg in these rare conditions.

Subcutaneous Immunoglobulin Use in Inclusion Body Myositis: A Review of 6 Cases.

Introduction: Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder affecting both proximal and distal muscles. Immunosuppressive therapies are generally ineffective in the treatment of this disorder, and most patients are resistant to steroid therapy. Some benefits with mild improvement were observed with intravenous immunoglobulin (IVIg), particularly in patients with severe dysphagia.

Differences in Alimentary Glucose Absorption and Intestinal Disposal of Blood Glucose After Roux-en-Y Gastric Bypass vs Sleeve Gastrectomy.

Background & Aims: Bariatric procedures, such as Roux-en-Y gastric bypass (RYGB) or vertical sleeve gastrectomy (VSG), are the most effective approaches to resolve type 2 diabetes in obese individuals. Alimentary glucose absorption and intestinal disposal of blood glucose have not been directly compared between individuals or animals that underwent RYGB vs VSG. We evaluated in rats and humans how the gut epithelium adapts after surgery and the consequences on alimentary glucose absorption and intestinal disposal of blood glucose.

E-virtual reality exposure therapy in acrophobia: A pilot study.

Virtual reality therapy is already used for anxiety disorders as an alternative to in vivo and in imagino exposure. To our knowledge, however, no one has yet proposed using remote virtual reality (e-virtual reality). The aim of the present study was to assess e-virtual reality in an acrophobic population.

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy.

Objective: Facioscapulohumeral muscular dystrophy (FSHD) is linked to either contraction of D4Z4 repeats on chromosome 4 or to mutations in the SMCHD1 gene, both of which result in the aberrant expression of the transcription factor DUX4. However, it is still difficult to correlate these genotypes with the phenotypes observed in patients. Because we have recently shown that mice with disrupted Fat1 functions exhibit FSHD-like phenotypes, we have investigated the expression of the human FAT1 gene in FSHD.

Corrigendum to "high-dose subcutaneous immunoglobulins for the treatment of severe treatment-resistant polymyositis".

[This corrects the article DOI: 10.1155/2014/458231.].

High-dose subcutaneous immunoglobulins for the treatment of severe treatment-resistant polymyositis.

Polymyositis is a rare debilitating condition characterized by chronic inflammation and muscle weakness. Standard treatments include corticosteroids and immunosuppressants; however, resistance to these regimens may develop. Intravenous immunoglobulins (IVIg) are thus recommended for patients with drug-resistant polymyositis.

Clinical utility of cerebrospinal fluid biomarkers in the diagnosis of early Alzheimer's disease.

Several potential disease-modifying drugs for Alzheimer's disease (AD) have failed to show any effect on disease progression in clinical trials, conceivably because the AD subjects are already too advanced to derive clinical benefit from treatment and because diagnosis based on clinical criteria alone introduces a high misdiagnosis rate. Thus, well-validated biomarkers for early detection and accurate diagnosis are crucial. Low cerebrospinal fluid (CSF) concentrations of the amyloid-β (Aβ1-42) peptide, in combination with high total tau and phosphorylated tau, are sensitive and specific biomarkers highly predictive of progression to AD dementia in patients with mild cognitive impairment.

Trigeminal neuralgia.

Two different clinical entities, essential or secondary neuralgia, are associated with different pathologies. The pathways of CN V comprise the cervical spine, the brainstem, the root of the nerve and the three peripheral branches: V1, V2 and V3. The lesions responsible for neuralgia are neoplastic, vascular, inflammatory, malformative or post-traumatic.

Effect of six months of treatment with V0191 in patients with suspected prodromal Alzheimer's disease.

New criteria related to prodromal Alzheimer's disease (AD) have been proposed to overcome the issue of heterogeneity of patients with mild cognitive impairment (MCI) and to better define patients in early stage AD. Only few therapeutic trials, if any, have been reported using this newly defined population. The objective of this study was to assess the clinical efficacy and safety of a novel pro-cholinergic drug (V0191) in patients with prodromal AD.

Burden of infections among 44,869 elderly in nursing homes: a cross-sectional cluster nationwide survey.

In France, although there are 445,000 beds in nursing homes (NHs) for elderly people, no studies on the burden of infections in NHs have been published. We sought to estimate the prevalence of infection among the residents and to assess the extent to which infections were associated with the residents' risk factors. We performed a nationwide, multicentre, cross-sectional, clustered period prevalence survey over five one-month periods.

Revising the definition of Alzheimer's disease: a new lexicon.

Alzheimer's disease (AD) is classically defined as a dual clinicopathological entity. The recent advances in use of reliable biomarkers of AD that provide in-vivo evidence of the disease has stimulated the development of new research criteria that reconceptualise the diagnosis around both a specific pattern of cognitive changes and structural/biological evidence of Alzheimer's pathology. This new diagnostic framework has stimulated debate about the definition of AD and related conditions.

Hepatitis B-related autoimmune manifestations.

This article focuses on autoimmune manifestations related to the hepatitis B virus (HBV). Although the HBV vaccination has resulted in the decline of the virus, approximately 400 million individuals are infected worldwide. Up to twenty percent of the afflicted may develop extrahepatic manifestations ranging from the severe polyarteritis nodosa to the many, varied, and less severe clinical and biologic forms.

Feasibility of outpatient coronary angiography with "ad hoc" angioplasty.

To assess the feasibility and safety of coronary angiography combined, where necessary, with ad hoc angioplasty in an outpatient setting; a prospective, single-center study. The first 172 patients (154 men, 59 +/- 11 years) considered at low risk for complications were enrolled for outpatient-coronary angiography with or without angioplasty via a radial approach. The inclusion criteria were clinical, not based on angiography.

Randomized, multicentre comparison of sodium alginate and cisapride in the symptomatic treatment of uncomplicated gastro-oesophageal reflux.

Aim: To assess the efficacy and tolerance of sodium alginate compared to cisapride in patients suffering from reflux symptoms, without severe oesophagitis.

Methods: A total of 353 patients with symptoms of reflux oesophagitis (average age 40 years, 51% men, 33% smokers, 43% consumers of alcoholic drinks) were selected at random--180 treated with sodium alginate (4 sachets per day) and 173 treated with cisapride (5 mg four times a day) for 1 month, with a consultation every 2 weeks. Patients with severe oesophagitis or with predominant symptoms of motor dyspepsia were not included.