Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle weakness and atrophy that begins in the facial and scapular muscles and progresses to the lower limbs. This incurable condition can severely impair muscle function, ultimately resulting in a loss of ambulation. A thorough analysis of molecular factors associated with the varying degrees of muscle impairment in FSHD is still lacking.

Neuromuscular mechanisms for the fast decline in rate of force development with muscle disuse - a narrative review.

The removal of skeletal muscle tension (unloading or disuse) is followed by many changes in the neuromuscular system, including muscle atrophy and loss of isometric maximal strength (measured by maximal force, F). Explosive strength, i.e.

Move less, spend more: the metabolic demands of short walking bouts.

The metabolic cost of steady-state walking is well known; however, across legged animals, most walking bouts are too short to reach steady state. Here, we investigate how bout duration affects the metabolic cost of human walking with varying mechanical power, metabolic intensity and duration. Ten participants walked for 10- to 240-s bouts on a stair climber at 0.

A Backgate for Enhanced Tunability of Holes in Planar Germanium.

Planar semiconductor heterostructures offer versatile device designs and are promising candidates for scalable quantum computing. Notably, heterostructures based on strained germanium have been extensively studied in recent years, with an emphasis on their strong and tunable spin-orbit interaction, low effective mass, and high hole mobility. However, planar systems are still limited by the fact that the shape of the confinement potential is directly related to the density.

Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Background And Aims: Charcot-Marie-Tooth (CMT) is a heterogeneous group of genetic neuropathies and is typically characterized by distal muscle weakness, sensory loss, pes cavus and areflexia. Herein we describe a case of CMT2CC presenting with proximal muscle weakness and equivocal electrophysiological features, that was misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP).

Case Report: A 30-year-old woman complained of proximal muscle weakness with difficulty climbing stairs.

A Single Bout of On-Ice Training Leads to Increased Interlimb Asymmetry in Competitive Youth Hockey Athletes.

Interlimb asymmetry (ILA) refers to an anatomical or physiological imbalance between contralateral limbs, which can influence neuromuscular function. Investigating the influence of neuromuscular fatigue on ILA may be critical for optimizing training programs, injury rehabilitation, and sport-specific performance. The purpose of this study was to determine if a single bout of ice hockey-specific exercise creates or exacerbates lower-limb ILA.

What the fish? Tracing the geographical origin of fish using NIR spectroscopy.

Food authentication is a growing concern with rising complexities of the food supply network, with fish being an easy target of food fraud. In this regard, NIR spectroscopy has been used as an efficient tool for food authentication. This article reviews the latest research advances on NIR based fish authentication.

Strontium isotope signature of the PGI lemons Limone Costa d'Amalfi and Limone di Sorrento, and of the orchard soils from Sorrento peninsula.

The Limone Costa d'Amalfi and Limone di Sorrento lemons from the Sorrento Peninsula have Protected Geographical Indication (PGI) and are subject to origin fraud. The Sr/Sr ratio (SrIR) signature of lemons and soils was investigated to verify its reliability to trace the PGI lemons and to highlight environmental factors responsible of the lemon SrIRs. The SrIR ranges of each PGI lemon were not discriminating as they overlapped with each other and some non-PGI lemon SrIRs fell within these ranges.

A comprehensive monitoring approach for a naturally anoxic aquifer beneath a controlled landfill.

The processes leading to high levels of arsenic (As), iron (Fe), and manganese (Mn) in groundwater, in a naturally reducing aquifer at a controlled municipal landfill site, are investigated. The challenge is to distinguish the natural water-rock interaction processes, that allow these substances to dissolve in groundwater, from direct pollution or enhanced dissolution of hydroxides as undesired consequences of the anthropic activities above. Ordinary groundwater monitoring of physical-chemical parameters and inorganic compounds (major and trace elements) was complemented by environmental isotopes of groundwater (tritium, deuterium, oxygen-18 and carbon-13) and dissolved gases (carbon-13 of methane and carbon dioxide and carbon-14 of methane).

Suspected stenosis in Caroli syndrome: when cholangioscopy can be the game changer.

Video 1Cholangioscopy performed during ERCP.

The work to swing limbs in humans versus chimpanzees and its relation to the metabolic cost of walking.

Compared to their closest ape relatives, humans walk bipedally with lower metabolic cost (C) and less mechanical work to move their body center of mass (external mechanical work, W). However, differences in W are not large enough to explain the observed lower C: humans may also do less work to move limbs relative to their body center of mass (internal kinetic mechanical work, W). From published data, we estimated differences in W, total mechanical work (W), and efficiency between humans and chimpanzees walking bipedally.

Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.

Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy.

Assessing Muscle Mass in the Orthopedic Clinical Setting: Application of the Ultrasound Sarcopenia Index in Elderly Subjects with a Recent Femoral Fracture.

Background: Sarcopenia poses a risk factor for falls, disability, mortality, and unfavorable postoperative outcomes. Recently, the Ultrasound Sarcopenia Index (USI) has been validated to assess muscle mass, and this study aimed to apply the USI in the clinical setting.

Methods: This prospective observational study included 108 patients aged >65 years, hospitalized for proximal femoral traumatic fracture.

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

RYR1 is the most commonly mutated gene associated with congenital myopathies, a group of early-onset neuromuscular conditions of variable severity. The functional effects of a number of dominant RYR1 mutations have been established; however, for recessive mutations, these effects may depend on multiple factors, such as the formation of a hypomorphic allele, or on whether they are homozygous or compound heterozygous. Here, we functionally characterize a new transgenic mouse model knocked-in for mutations identified in a severely affected child born preterm and presenting limited limb movement.

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.

Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA).

Methods: People aged between 18 and 60 were recruited as being DRA carriers.

A new perspective in radon risk assessment: Mapping the geological hazard as a first step to define the collective radon risk exposure.

Radon is a radioactive gas and a major source of ionizing radiation exposure for humans. Consequently, it can pose serious health threats when it accumulates in confined environments. In Europe, recent legislation has been adopted to address radon exposure in dwellings; this law establishes national reference levels and guidelines for defining Radon Priority Areas (RPAs).

Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers.

Over recent decades, peripheral sensory abnormalities, including the evidence of cutaneous denervation, have been reported among the non-motor manifestations in amyotrophic lateral sclerosis (ALS). However, a correlation between cutaneous innervation and clinical features has not been found. The aims of this study were to assess sensory involvement by applying a morpho-functional approach to a large population of ALS patients stratified according to King's stages and correlate these findings with the severity and prognosis of the disease.

Pregnancy experience in women with spinal muscular atrophy: a case series.

Many women with spinal muscular atrophy (SMA) types II, III, and IV reach fertile age, and some of them may consider pregnancy. However, limited data are available about the potential effects of pregnancy on the course of SMA and the outcomes of pregnancies in these patients. Furthermore, the use of several disease-modifying therapies for the treatment of all types of SMA is expected to increase the number of female SMA patients considering pregnancy in the coming years.

Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.

Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv, v for variant) is a progressive disease caused by mutations in the TTR gene, leading to sensory-motor, axonal and length-dependent neuropathy. However, some patients may show variable electrophysiological pattern. The aim of this study was to evaluate the electrophysiological features of TTR amyloid neuropathy at the time of the first nerve conduction study (NCS) to assess whether there were distinguishing features useful for early diagnosis.

Patient and Context Factors in the Adoption of Active Surveillance for Low-Risk Prostate Cancer.

Importance: Although active surveillance for patients with low-risk prostate cancer (LRPC) has been recommended for years, its adoption at the population level is often limited.

Objective: To make active surveillance available for patients with LRPC using a research framework and to compare patient characteristics and clinical outcomes between those who receive active surveillance vs radical treatments at diagnosis.

Design, Setting, And Participants: This population-based, prospective cohort study was designed by a large multidisciplinary group of specialists and patients' representatives.

Impact of a simulation-based education approach for health sciences: demo, debrief, and do.

Background: Skill-based practice (e.g., communication skills) is important for individuals to incorporate into students' learning and can be challenging in large classes.

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Objective: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies.

Methods: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA).

Results: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.