Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.

Background: There is limited evidence that Brugada Syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or Sudden Arrhythmic Death Syndrome (SADS).

Objective: We sought to characterize the genotype-phenotype correlation in families who had BrS and SADS with reportedly pathogenic SCN1B variants and to review their pathogenicity.

Atrophic scar formation in patients with acne involves long-acting immune responses with plasma cells and alteration of sebaceous glands.

Background: Possible outcomes of acne lesions are atrophic scars, which may cause serious psychological distress. Current treatments for postacne scarring often require invasive procedures. Pathophysiological studies on acne scarring have only investigated the first week of papule life.

Cutibacterium acnes molecular typing: time to standardize the method.

Background: The Gram-positive, anaerobic/aerotolerant bacterium Cutibacterium acnes is a commensal of healthy human skin; it is subdivided into six main phylogenetic groups or phylotypes: IA1, IA2, IB, IC, II and III. To decipher how far specific subgroups of C. acnes are involved in disease physiopathology, different molecular typing methods have been developed to identify these subgroups: i.

Validation of 3D skin imaging for objective repeatable quantification of severity of atrophic acne scarring.

Background: One major sequelae of acne is atrophic scarring, yet objective tools to assess scars are lacking. Neither depth nor volume of atrophic scars is readily evaluable clinically and standard 2D photography is significantly affected by lighting and shadows. The aim of our study was to define and evaluate parameters of 3D imaging that can be used to assess severity of atrophic acne scarring.

Heterogeneous pattern of autonomic dysfunction in Parkinson's disease.

Dysautonomic symptoms are frequent non-motor complaints in patients with Parkinson's disease. Numerous neuropathological studies have shown that Lewy bodies and neurites, the pathological hallmarks of Parkinson's disease, are widely distributed throughout the peripheral autonomic nervous systems and across end organs. However, few investigations integrally explored the symptoms and physiology of dysautonomia in Parkinson's disease.

REM sleep behavior disorder is related to enteric neuropathology in Parkinson disease.

Objective: To determine whether REM sleep behavior disorder (RBD) in Parkinson disease (PD) is associated with lesions and dysfunctions of the autonomic nervous system by evaluating enteric phosphorylated α-synuclein histopathology (PASH) and permeability.

Methods: A total of 45 patients with PD were included in this cross-sectional study. RBD was diagnosed on the basis of a standardized clinical interview and confirmed by polysomnography.

Exercise Transcutaneous Oximetry of the Buttocks - External Validation With Computed Tomography Angiography.

Background: Exercise transcutaneous oximetry (Ex-tcPO2) is a non-invasive test for exercise-induced buttock ischemia. Prior study defined Ex-tcPO2 normal/abnormal cut-offs against arteriography but no external validation was available. The aims of this study were therefore to (1) determine the diagnostic performance of Ex-tcPO2 against CTA; (2) determine the cut-off point for detection of stenosis >75% in arteries toward the hypogastric circulation; and (3) determine the effect of chest profile classification on the diagnostic performance of Ex-tcPO2.

Low cross-neutralization of hepatitis C correlates with liver disease in immunocompromized patients.

Background And Aims: Chronic hepatitis C virus (HCV) infection causes severe liver disease in HIV-infected patients and liver transplant recipients. The impact of serum and immunoglobulin on viral entry was analysed in these patients.

Method: Sera from 60 anti-HCV positive patients, including 30 who were also anti-HIV positive, were tested with HCVpp from different genotypes (1a, 1b, 3 and 4) and with HCVcc (H77/JFH1).

Expanded CD8 T-cell sharing between periphery and CNS in multiple sclerosis.

Objective: In multiple sclerosis (MS), central nervous system (CNS), cerebrospinal fluid (CSF), and blood display TCR clonal expansions of CD8(+) T cells. These clones have been assumed - but never demonstrated - to be similar in the three compartments. Addressing this key question is essential to infer the implication of peripheral clonally expanded CD8(+) T cells in the disease.

Enteric glial cells: new players in Parkinson's disease?

Lewy pathology has been described in neurons of the enteric nervous system in nearly all Parkinson's disease (PD) patients at autopsy. The enteric nervous system not only contains a variety of functionally distinct enteric neurons but also harbors a prominent component of glial cells, the so-called enteric glial cells, which, like astrocytes of the central nervous system, contribute to support, protect, and maintain the neural network. A growing body of evidence supports a role for enteric glial cells in the pathophysiology of gastrointestinal disorders such as inflammatory bowel disease and chronic constipation.

Appraisal of the dopaminergic and noradrenergic innervation of the submucosal plexus in PD.

Background: The principal components of the enteric nervous system (ENS) are two neuronal networks, the myenteric and submucosal plexus (SMP), which are primarily involved in the regulation of gastrointestinal (GI) motility and secretion, respectively. These two plexus are made up of intrinsic neurons receiving input from the extrinsic sympathetic and parasympathetic innervation of the gut. Both the intrinsic and extrinsic innervations of the gut are affected by Lewy pathology in Parkinson's disease (PD).

Adalimumab in patients with hand osteoarthritis refractory to analgesics and NSAIDs: a randomised, multicentre, double-blind, placebo-controlled trial.

Aim: To test the efficiency of tumour necrosis factor blockers (adalimumab) in patients with painful refractory (non-responders to analgesics and non-steroidal anti-inflammatory drugs (NSAIDs)) hand osteoarthritis (OA).

Methods: We performed a randomised, double-blind, placebo-controlled, parallel group, multicentre study. Patients were randomised to: 1/1 adalimumab 40 mg for two subcutaneous injections at a 15-day interval or placebo and monitored for 6 months.

Enteric GFAP expression and phosphorylation in Parkinson's disease.

Enteric glial cells (EGCs) are in many respects similar to astrocytes of the central nervous system and express similar proteins including glial fibrillary acidic protein (GFAP). Changes in GFAP expression and/or phosphorylation have been reported during brain damage or central nervous system degeneration. As in Parkinson's disease (PD) the enteric neurons accumulate α-synuclein, and thus are showing PD-specific pathological features, we undertook the present survey to study whether the enteric glia in PD become reactive by assessing the expression and phosphorylation levels of GFAP in colonic biopsies.

Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.

The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism.

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

Gene silencing approaches have the potential to become a powerful curative tool for a variety of monogenic diseases caused by gain-of-function mutations. Classical osteogenesis imperfecta (OI), a dominantly inherited bone dysplasia, is characterized in its more severe forms by synthesis of structurally abnormal type I collagen, which exerts a negative effect on extracellular matrix. Specific suppression of the mutant (Mut) allele would convert severe OI forms to the mild type caused by a quantitative defect in normal collagen.

[Autonomic nervous system as a source of biomarkers in Parkinson's disease].

No validated biomarker is yet available for Parkinson's disease (PD). Clinical PD symptoms include dopa-responsive motor symptoms and dopa-resistant non motor symptoms. Some of the non motor symptoms begin during the premotor stage, like constipation, hyposmia or REM-sleep disorders.

Optimization and validation of a simple method using P22::luxAB bacteriophage for rapid detection of Salmonella enterica serotypes A, B, and D in poultry samples.

A simple method was developed for the fast and inexpensive detection of Salmonella Typhimurium using a recombinant P22::luxAB phage. All the steps from phage production to detection were considered. A strain of Salmonella Typhimurium harboring the prophage P22::luxAB was grown in batch culture to produce spontaneously the recombinant bacteriophage.

A long-term comparison of pioglitazone and gliclazide in patients with Type 2 diabetes mellitus: a randomized, double-blind, parallel-group comparison trial.

Aims: This study compared the effects of pioglitazone and gliclazide on metabolic control in drug-naive patients with Type 2 diabetes mellitus.

Methods: A total of 1270 patients with Type 2 diabetes were randomized in a parallel-group, double-dummy, double-blind study. Patients with poorly controlled Type 2 diabetes (HbA1c 7.