Expanding the Molecular Spectrum of Missense Variants: Clinical Insights and Literature Review.

Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.

The Impact of Persevering Home Full-Body In-Bed Gym Exercise on Body Muscles in Aging: A Case Report by Quantitative Radio-Densitometric Study Using 3D and 2D Color CT.

Unlabelled: Background and Clinical Significance: Sarcopenia, characterized by muscle loss and fat infiltration, poses a significant health burden for aging populations. Quantitative Color 2D and 3D radiodensitometry provides a powerful tool to monitor muscle quality and quantity through CT imaging. This study assessed the impact of a ten-year-long home-bed gym exercise intervention on muscle quality in an elderly subject using CT-derived radiodensitometric analysis.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Alteration in the ubiquitin-proteasome system results in human disorders with neurological and/or autoinflammatory presentation. Haploinsufficiency of PSMD12, which encodes a subunit of the core component of the proteasome, causes Stankiewicz-Isidor syndrome (STISS), characterized by intellectual disability, autism spectrum disorder, craniofacial dysmorphisms, with or without other congenital anomalies, and autoinflammation. We described six patients (four adults) from two unrelated families carrying a known p.

Analyzing asymmetry in brain hierarchies with a linear state-space model of resting-state fMRI data.

This study challenges the traditional focus on zero-lag statistics in resting-state functional magnetic resonance imaging (rsfMRI) research. Instead, it advocates for considering time-lag interactions to unveil the directionality and asymmetries of the brain hierarchy. Effective connectivity (EC), the state matrix in dynamical causal modeling (DCM), is a commonly used metric for studying dynamical properties and causal interactions within a linear state-space system description.

3D Modeling: Insights into the Metabolic Reprogramming of Cholangiocarcinoma Cells.

Developing accurate in vitro models that replicate the in vivo tumor environment is essential for advancing cancer research and therapeutic development. Traditional 2D cell cultures often fail to capture the complex structural and functional heterogeneity of tumors, limiting the translational relevance of findings. In contrast, 3D culture systems, such as spheroids, provide a more physiologically relevant context by replicating key aspects of the tumor microenvironment.

Neuromuscular impairment at different stages of human sarcopenia.

Background: Degeneration of the motoneuron and neuromuscular junction (NMJ) and loss of motor units (MUs) contribute to age-related muscle wasting and weakness associated with sarcopenia. However, these features have not been comprehensively investigated in humans. This study aimed to compare neuromuscular system integrity and function at different stages of sarcopenia, with a particular focus on NMJ stability and MU properties.

The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.

Here, we report the identification and functional characterization of a novel GLA variant, not detectable by routine molecular tests, in a family with FD suspicion.

Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.

Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or whole gene microdeletion, who showed multiple joint contractures affecting at least two proximal and/or distal joints.

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency.

Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort.

Bruxism is a worldwide oral health problem. Although there is a consensus about its multifactorial nature, its precise etiopathogenetic mechanisms are unclear. This study, taking advantage of a deeply characterized cohort of 769 individuals (aged 6-89 years) coming from Northern Italy's genetically isolated populations, aims to epidemiologically describe environmental risk factors for bruxism development and identify genes potentially involved through a Genome-Wide Association Study (GWAS) approach.

Program with last minute abstracts of the Padua Days on Muscle and Mobility Medicine, 27 February - 2 March, 2024 (2024Pdm3).

During the 2023 Padua Days on Muscle and Mobility Medicine the 2024 meeting was scheduled from 28 February to 2 March 2024 (2024Pdm3). During autumn 2023 the program was expanded with Scientific Sessions which will take place over five days (in 2024 this includes February 29), starting from the afternoon of 27 February 2024 in the Conference Rooms of the Hotel Petrarca, Thermae of Euganean Hills (Padua), Italy. As per consolidated tradition, the second day will take place in Padua, for the occasion in the Sala San Luca of the Monastery of Santa Giustina in Prato della Valle, Padua, Italy.

Five Padua days on muscle and mobility medicine (2024Pdm3) 27 February - 2 March, 2024 at Hotel Petrarca, Thermae of Euganean Hills, Padua, and San Luca Hall, Prato della Valle, Padua, Italy.

At the end of the 2023 Padua Days of Muscle and Mobility Medicine the next year's meeting was scheduled from 27 February to 2 March 2024 (2024Pdm3). During the summer and autumn the program was confirmed with Scientific Sessions that will take place over five days, starting in the afternoon of February 27, 2024 at the Conference Room of the Hotel Petrarca, Thermae of Euganean Hills (Padua), Italy. As usual, the next day will be spent in Padua, in this occasion at the San Luca Hall of the Santa Giustina monastery in Prato della Valle, Padua, Italy.

Can lifelong endurance exercise improve ageing through beneficial effects on circadian timing function, muscular performance and health status in men? Protocol for a comparative cross-sectional study.

A well-synchronized circadian system is a manifestation of an individual's health. A gradual weakening of the circadian timing function characterizes aging. Regular exercise has been suggested as a modality to improve many detrimental changes associated with aging.

Translational mobility medicine and ugo carraro: a life of significant scientific contributions reviewed in celebration.

Prof. Ugo Carraro reached 80 years of age on 23 February 2023, and we wish to celebrate him and his work by reviewing his lifetime of scientific achievements in Translational Myology. Currently, he is a Senior Scholar with the University of Padova, Italy, where, as a tenured faculty member, he founded the Interdepartmental Research Center of Myology.

2023 Padua Days of Muscle and Mobility Medicine: post-meeting Book of Abstracts.

The 2023 Padua Days of Muscle and Mobility Medicine (Pdm3) were held from March 29th to April 1st, 2023. Most of the abstracts were published electronically in the European Journal of Translational Myology (EJTM) 33 (1) 2023. Here we report the complete book of abstracts that confirms the interest of more than 150 scientists and clinicians from Austria, Bulgaria, Canada, Denmark, France, Georgia, Germany, Iceland, Ireland, Italy, Mongolia, Norway, Russia, Slovakia, Slovenia, Spain, Switzerland, The Netherlands and USA to gather to the Hotel Petrarca of Thermae of Euganean Hills, Padua, Italy for contributing and attending the Pdm3 (https://www.

NAD repletion with niacin counteracts cancer cachexia.

Cachexia is a debilitating wasting syndrome and highly prevalent comorbidity in cancer patients. It manifests especially with energy and mitochondrial metabolism aberrations that promote tissue wasting. We recently identified nicotinamide adenine dinucleotide (NAD) loss to associate with muscle mitochondrial dysfunction in cancer hosts.

Upregulation of Sarcolemmal Hemichannels and Inflammatory Transcripts with Neuromuscular Junction Instability during Lower Limb Unloading in Humans.

Human skeletal muscle atrophy and a disproportionate force loss occur within a few days of unloading in space and on Earth, but the underlying mechanisms are not fully understood. Disruption of neuromuscular junction homeostasis has been proposed as one of the possible causes. Here, we investigated the potential mechanisms involved in this neuromuscular disruption induced by a 10-day unilateral lower limb suspension (ULLS) in humans.

Last-minute abstracts of 2023 Padua Days of Muscle and Mobility Medicine (2023 Pdm3) and 2023 Editorial board of EJTM.

The 2023 Padua Days of Muscle and Mobility Medicine (Pdm3) are scheduled from March 29th to April 1st, 2023. The abstracts collected during autumn and early winter of 2022 were e- published in the issue 33 (1) 2023 of the European Journal of Translational Myology (EJTM). Now the last-minute abstracts are reported here (100 Oral presentations are listed in the final Program).

Abstracts of the 2023 Padua Days of Muscle and Mobility Medicine (2023Pdm3) to be held March 29 - April 1 at the Galileian Academy of Padua and at the Petrarca Hotel, Thermae of Euganean Hills, Padua, Italy.

At the end of the 2022 Padua Days of Muscle and Mobility Medicine (Pdm3) the next year's meeting was scheduled from 29 March to 1 April 2023. Despite the worsening evolution of the crisis in Eastern Europe, the program was confirmed in autumn 2022 with Scientific Sessions that will take place over three full days in the Aula Guariento of the Galileian Academy of Arts, Letters and Sciences of Padua (March 29, 2023) and then at the Conference Room of the Hotel Petrarca, Thermae of Euganean Hills (Padua), Italy. Collected during autumn and early winter, many titles and abstracts where submitted (about 100 Oral presentations are listed in the preliminary Program by January 31, 2023) confirming attractiveness of the 2023 Pdm3.

C-terminal agrin fragment as a biomarker of muscle wasting and weakness: a narrative review.

Ageing is accompanied by an inexorable loss of muscle mass and functionality and represents a major risk factor for numerous diseases such as cancer, diabetes and cardiovascular and pulmonary diseases. This progressive loss of muscle mass and function may also result in the insurgence of a clinical syndrome termed sarcopenia, exacerbated by inactivity and disease. Sarcopenia and muscle weakness yield the risk of falls and injuries, heavily impacting on health and social costs.

Plasma proteome profiling of healthy subjects undergoing bed rest reveals unloading-dependent changes linked to muscle atrophy.

Background: Inactivity and unloading induce skeletal muscle atrophy, loss of strength and detrimental metabolic effects. Bed rest is a model to study the impact of inactivity on the musculoskeletal system. It not only provides information for bed-ridden patients care, but it is also a ground-based spaceflight analogue used to mimic the challenges of long space missions for the human body.

2023 On-site Padua Days on Muscle and Mobiliy Medicine: Call for speakers.

The winter of 2022 approaches with the need to finalize our plans for next year. This is urgent for the 2023 Meeting of the Padua Days of Muscle and Mobility Medicine (Pdm3) to be held March 29th to April 1st, 2023 at the Hotel Petrarca in the Thermae of Euganean Hills (Padua), Italy. A preliminary Pdm3 Program is almost ready with sessions, organzers and keynote speakers, but ther is still rooms for many interesting and interested young speakers.

Aging and Possible Benefits or Negatives of Lifelong Endurance Running: How Master Male Athletes Differ from Young Athletes and Elderly Sedentary?

Regular physical activity, recommended by the WHO, is crucial in maintaining a good physical fitness level and health status and slows down the effects of aging. However, there is a lack of knowledge of whether lifelong endurance running, with a volume and frequency above the WHO limits, still brings the same benefits, or several negative effects too. The present study aims to examine the protentional benefits and risks of lifelong endurance running training in Master male athletes, as this level of physical activity is above the WHO recommendations.