Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study.

Background And Aims: Body composition parameters associated with aerobic fitness, mirrored by maximal oxygen consumption (V̇Omax), have recently gained interest as indicators of physical efficiency in facioscapulohumeral dystrophy (FSHD). Bioimpedance analysis (BIA) allows a noninvasive and repeatable estimate of body composition but is based on the use of predictive equations which, if used in cohorts with different characteristics from those for which the equation was originally formulated, could give biased results. Instead, the phase angle (PhA), a BIA raw bioelectrical parameter reflecting body fluids distribution, could provide reliable data for such analysis.

Cross-cultural translation, validation, and responsiveness of the Pittsburgh Fatigability Scale - Italian version (PFS-I) in a mixed-sample of older adults.

Introduction: Older adults experience fatigue which impacts health-related quality of life. The Pittsburgh Fatigability Scale (PFS) was specifically designed to assess perceived physical and mental fatigability in older adults. The aim of this study was to translate the PFS into Italian (PFS-I) and to investigate its psychometric properties.

The first case of a competitive basketball player affected by carnitine palmitoyl transferase II deficiency presenting an undescribed compound heterozygous genetic mutation.

Purpose: The risk of exercise-induced rhabdomyolysis, followed by abrupt creatine kinase (CK) augmentation, associated with carnitine palmitoyl transferase II (CPTII) deficiency causes patients to abstain from physical training. However, the exercise adjustment to the disease-induced metabolic impairment, accompanied by a tailored nutritional and supplementation strategy, could make sporting activity feasible, even at a competitive level. Here, we report the case of an 18-year-old male basketball player at a competitive level diagnosed for CPTII deficiency after a rhabdomyolytic event.

Magnetic Sensor Array for Electric Arc Reconstruction in Circuit Breakers.

Noninvasive imaging of circuit breakers under short-circuit testing is addressed by recording the magnetic field produced over an array of external sensors and by solving an inverse problem to identify the causing current distribution. The temporal and spatial resolution of the sensing chain are studied and implemented in a physical set-up. A wire model is adopted to describe electrical current distribution.

Lower-Limb Exoskeletons for Gait Training in Parkinson's Disease: The State of the Art and Future Perspectives.

Gait dysfunction (GD) is a common impairment of Parkinson's disease (PD), which negatively impacts patients' quality of life. Among the most recent rehabilitation technologies, a lower-limb powered exoskeleton (LLEXO) arises as a useful instrument for gait training in several neurological conditions, including PD. However, some questions relating to methods of use, achievable results, and usefulness compared to traditional rehabilitation methodologies still require clear answers.

Maximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy.

Facioscapulohumeral dystrophy (FSHD) leads to progressive changes in body composition such as loss of muscle mass and increase in adiposity. In healthy subjects, anthropometric parameters are associated with the maximum volume of oxygen consumed per minute (VOmax), which is a health and function indicator in several populations of subjects, both healthy and pathological. Since VOmax can be difficult to test in patients with FSHD due to exercise intolerance, the identification of associated anthropometric parameters could provide new easily obtainable elements for the patients' clinical stratification.

Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy.

Purpose: Fat free mass (FFM) is considered the metabolically active component of human body and is positively associated with maximal oxygen uptake ( ). However, FFM is composed of metabolically active and inactive subcomponents whose proportion can vary depending on body composition and clinical condition, possibly affecting such association. Although it is known that in facioscapulohumeral dystrophy (FSHD) peculiar changes in body composition occur, it is unclear whether there are alterations in FFM composition and, if so, whether such alterations affect the association towards compared to healthy subjects (HS).

Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient.

Background: Patients with central core myopathy (CCM) can be at risk of exercise-induced rhabdomyolysis and myalgia. Despite its possible positive effects, physical training has been long avoided in these patients as no population-specific exercise adaption strategies have been developed. Here we present the case of a 17-year-old male CCM patient who underwent a 3-month training program tailored to a preliminary test aimed at assessing his physical exertion tolerance measured via changes in serum creatine kinase (CK).

Effects of essential amino acid (EAA) and glutamine supplementation on skeletal muscle wasting in acute, subacute, and postacute conditions.

Under optimal physiological conditions, muscle mass maintenance is ensured by dietary protein, which balances the amino acid loss during the post-absorption period and preserves the body's protein homeostasis. Conversely, in critical clinical conditions (acute, subacute or postacute), particularly those related to hypomobility or immobility, combined with malnutrition, and local/systemic inflammation, the loss of muscle mass and strength can be quantitatively significant. A decline of more than 1% in muscle mass and of more than 3% in muscle strength has been registered in subjects with aged 20-37 yr after just five days of bed rest, similarly to those observed during one year of age-related decline in individuals over the age of 50.

An 8-month adapted motor activity program in a young CMT1A male patient.

Background: It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8-month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient.

Prospective evaluation of the emetogenic profile and analgesic efficacy of intravenous ibuprofen and metamizole in the immediate postoperative period of pediatric acute appendicitis.

Background: Literature comparing different alternatives for pain control in the immediate postoperative period of pediatric acute appendicitis (PAA) is scarce.

Materials And Methods: We prospectively compared the analgesic and emetogenic profile of intravenous ibuprofen and metamizole in the immediate postoperative period of PAA. For this purpose, we used a sample of patients operated on in 2021 in our center.

Fatigue in Spinal Muscular Atrophy: a fundamental open issue.

Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life.

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.

Gut-muscle-brain axis: Molecular mechanisms in neurodegenerative disorders and potential therapeutic efficacy of probiotic supplementation coupled with exercise.

Increased longevity is often associated with age-related conditions. The most common neurodegenerative disorders in the older population are Alzheimer's disease (AD) and Parkinson's disease (PD), associated with progressive neuronal loss leading to functional and cognitive impairments. Although symptomatic treatments are available, there is currently no cure for these conditions.

Flow cytometric characterization of cecal appendix lymphocyte subpopulations in children: a pilot study.

Introduction: Scientific literature regarding the characterization of lymphocyte subpopulations of the cecal appendix is sparse, with few precedents limited to immunohistochemical techniques.

Methods: We conducted a prospective pilot study to characterize lymphocyte subpopulations of the cecal appendix in children. Participants were divided into three groups: (1) patients without histological acute appendiceal inflammation, (2) patients with histological uncomplicated acute appendicitis, and (3) patients with histological complicated acute appendicitis (gangrenous, perforated).

Post-Operative Increase in Serum Interleukin-6 Is Associated With Longer Hospital Stay in Children Operated on for Acute Appendicitis: A Pilot Study.

Pediatric acute appendicitis (PAA) involves a substantial consumption of health and economic resources. The identification of serum biomarkers that may help predict the post-surgical evolution of these patients is a field of great interest. This was a prospective, observational substudy within the Biomarkers for the Diagnosis of Appendicitis in Pediatrics (BIDIAP) cohort aimed at evaluating the association between post-surgical increase in serum IL-6 and different outcomes related to the clinical evolution of children operated on for PAA.

Type 1 diabetes management in a competitive athlete: A five-year case report.

Type I diabetes has an incidence of 15 per 100,000 people. Though it is a metabolic disorder, it can be seen in top, even professional athletes. Physical activity is recommended to manage diabetes, but there is a lack of specific knowledge on diabetes management and exercise from dedicated medical staff.

A balanced formula of essential amino acids promotes brain mitochondrial biogenesis and protects neurons from ischemic insult.

Mitochondrial dysfunction plays a key role in the aging process, and aging is a strong risk factor for neurodegenerative diseases or brain injury characterized by impairment of mitochondrial function. Among these, ischemic stroke is one of the leading causes of death and permanent disability worldwide. Pharmacological approaches for its prevention and therapy are limited.

The BIDIAP index: a clinical, analytical and ultrasonographic score for the diagnosis of acute appendicitis in children.

Background: Pediatric acute appendicitis (PAA) continues to be a diagnostic challenge today. The diagnostic performance of classical indices is only moderate, especially in pediatric population. This study aimed to define a clinical, radiological and analytical index for the diagnosis of PAA.