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The Mesolithic technology in Western Europe depicts the last cultural expressions and adaptations of hunter-gatherers before the adoption of Neolithic agro-pastoral practices. Many questions arise when investigating the timing, nature, and historical significance of the Mesolithic. The development of the Mesolithic culture is usually associated with the onset of milder environmental conditions at the beginning of the Holocene. Hunter-gatherer societies would have adopted new subsistence and territorial strategies in response to environmental changes, which would have consecutively impacted their technological system. This assertion considers the Mesolithic in South-western Europe as one homogeneous phenomenon and eludes the putative role that early Holocene climatic fluctuations may have played in hunter-gatherer organizations. In this study, we aimed at questioning the archaeological variability of the first Mesolithic by taking benefit from new data provided by recent excavations at La Baume de Monthiver (Comps-sur-Artuby, France). La Baume de Monthiver is a small rock shelter located along the Jabron Valley in the southern French pre-Alps. The rock shelter records several Mesolithic occupations documenting Sauveterrian technological traditions. By studying the Baume de Monthiver, we take the opportunity to explore the Sauveterrian in its longue durée and address the question of its diachronic variability. In this study, we investigated the M-B′ archaeological assemblage and question its homogeneity at the transition of the 10th- and 9th-millennium cal. BP. Our results document stable technological and subsistence practices before and after the climatic fluctuations at the end of the 10th-millennium cal. BP, supporting the hypothesis of well-adapted Mesolithic societies to the climatic “instability” characterizing the early Holocene.

5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases due to homozygous mutations in the SMN1 gene. This leads to a loss of function of the SMN1 gene, which in the end determines lower motor neuron degeneration. Since the generation of the first mouse models of SMA neuropathology, a complex degenerative involvement of the neuromuscular junction and peripheral axons of motor nerves, alongside lower motor neurons, has been described. The involvement of the neuromuscular junction in determining disease symptoms offers a possible parallel therapeutic target. This narrative review aims at providing an overview of the current knowledge about the pathogenesis and significance of neuromuscular junction dysfunction in SMA, circulating biomarkers, outcome measures and available or developing therapeutic approaches. [ABSTRACT FROM AUTHOR]

Instagram is one of the most used platforms, and ephemeral stories are proving to be the most used medium for users to share content on the platform. However, there have been few studies examining this type of content in relation to emotional well-being. This study examined the association between the number of published Instagram stories, psychological well-being, personality traits, and gender in a sample of 734 Instagram users from Italy, including 281 men and 453 women, with a mean age of 25.19 years (SD = 7.08). Participants were recruited online and asked to complete an online questionnaire. Differences were found between genders in terms of time spent on Instagram, but not in terms of the number of stories posted in the past week. In the overall sample, a small positive correlation was found between the number of Instagram stories posted and extraversion. When considering gender differences, small effect sizes were observed for emotional dysregulation, agreeableness, and neuroticism, indicating a stronger association with Instagram stories in the female group, and for openness, indicating a stronger association in the male group. Results of multiple regression analyses suggest that among females, psychological variables, including personality and emotional distress, may have a stronger association with Instagram stories. To our knowledge, this is the first study to report these differences. The findings help to clarify how certain characteristics of social media platforms relate to psychological well-being and personality differently in men and women in their journey to using social media. [ABSTRACT FROM AUTHOR]

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disease, although 10%–30% of cases are sporadic. However, this percentage may include truly de novo patients (carrying a reduced D4Z4 allele that is not present in either of the parents) and patients with apparently sporadic disease resulting from mosaicism, non‐penetrance, or complex genetic situations in either patients or parents. In this study, we characterized the D4Z4 Reduced Alleles (DRA) and evaluated the frequency of truly de novo cases in FSHD1 in a cohort of DNA samples received consecutively for FSHD‐diagnostic from 100 Italian families. The D4Z4 testing revealed that 60 families reported a DRA compatible with FSHD1 (1–10 RU). The DRA co‐segregated with the disease in most cases. Five families with truly de novo cases were identified, suggesting that this condition may be slightly lower (8%) than previously reported. In addition, D4Z4 characterization in the investigated families showed 4% of mosaic cases and 2% with translocations. This study further highlighted the importance of performing family studies for clarifying apparently sporadic FSHD cases, with significant implications for genetic counseling, diagnosis, clinical management, and procreative choices for patients and families. [ABSTRACT FROM AUTHOR]

Simple Summary: The cannabinoid type 1 receptor (CB1) is a primary cannabinoid receptor prominently found in the central nervous system and peripheral tissues, notably skeletal muscle. Muscle tissue CB1 is located on the cell and mitochondrial membrane. This study investigates how this receptor contributes to mitochondrial homeostasis in gastrocnemius muscle. The results indicate that CB1 absence induces a shift from fast-twitch to slow-twitch fibers, coupled with increased oxidative capacity and alterations in the antioxidant defense systems. Analysis of mitochondrial quality control (MQC) shows enhanced biogenesis, fusion, mitophagy, and UPRmt. Our study reveals the multifaceted impact of CB1 absence on the mitochondrial homeostasis of gastrocnemius muscle. This study aims to explore the complex role of cannabinoid type 1 receptor (CB1) signaling in the gastrocnemius muscle, assessing physiological processes in both CB1+/+ and CB1−/− mice. The primary focus is to enhance our understanding of how CB1 contributes to mitochondrial homeostasis. At the tissue level, CB1−/− mice exhibit a substantial miRNA-related alteration in muscle fiber composition, characterized by an enrichment of oxidative fibers. CB1 absence induces a significant increase in the oxidative capacity of muscle, supported by elevated in-gel activity of Complex I and Complex IV of the mitochondrial respiratory chain. The increased oxidative capacity is associated with elevated oxidative stress and impaired antioxidant defense systems. Analysis of mitochondrial biogenesis markers indicates an enhanced capacity for new mitochondria production in CB1−/− mice, possibly adapting to altered muscle fiber composition. Changes in mitochondrial dynamics, mitophagy response, and unfolded protein response (UPR) pathways reveal a dynamic interplay in response to CB1 absence. The interconnected mitochondrial network, influenced by increased fusion and mitochondrial UPR components, underlines the dual role of CB1 in regulating both protein quality control and the generation of new mitochondria. These findings deepen our comprehension of the CB1 impact on muscle physiology, oxidative stress, and MQC processes, highlighting cellular adaptability to CB1−/−. This study paves the way for further exploration of intricate signaling cascades and cross-talk between cellular compartments in the context of CB1 and mitochondrial homeostasis. [ABSTRACT FROM AUTHOR]

Metabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to limitations in muscle function with concomitant occurrence of related signs and symptoms, among which fatigue is one of the most frequently reported. Understanding the underlying molecular mechanisms of muscle fatigue in these conditions is challenging for the development of an effective diagnostic and prognostic approach to test targeted therapeutic interventions. This paper outlines the key biomolecules involved in muscle fatigue in metabolic myopathies, including energy substrates, enzymes, ion channels, and signaling molecules. Potential future research directions in this field are also discussed. [ABSTRACT FROM AUTHOR]