Evaluation of a low-cost portable NIRS device for monitoring muscle ischemia.

The main objective of this study is to evaluate the low-cost, open-source HEGduino device as a tissue oximetry monitor to advance the research of somatic NIRS monitoring. Specifically, this study analyzes the use of this portable functional NIRS system for detecting the cessation of blood flow due to vascular occlusion in an upper limb. 19 healthy patients aged between 25 and 50 were recruited and monitored using HEGduino device. Participants underwent a vascular occlusion test on one forearm. Raw values collected by HEGduino as well as the processed variables derived from the measurements were registered. Additional variables to characterize the signal noise during the tests were also recorded. The results of the data distribution curves for all the subjects in the study accurately detected the physiological events associated with transient tissue ischemia. The statistical analysis of the recorded data showed that the difference between the baseline values recorded by the red led (RED) and its normalized minimum variable was always different from zero (p < 0.014). Furthermore, the difference between the normalized baseline values recorded by the infrared led (IR) and the corresponding normalized minimum value was also different from zero (p < 0.001). The R-squared coefficient of determination for the noise variables considered in this study on the normalized RED and IR values was 0.08 and 0.105, respectively. The study confirms the potential of HEGduino system to detect an interruption of the blood flow by means of variations in regional tissue oxygen saturation. This study demonstrates the potential of the HEGduino device as a monitoring alternative to advance the study of the applicability of NIRS in muscle tissue oximetry.

Depression and Anxiety Among COVID-19 Patients Admitted to a "Red Zone" Intensive Care Unit: Do the Factors of Self-Awareness of Somatic Health, Anxiety, and Depression Contribute to the Course of Sars-Cov-2 Infection?

BACKGROUND: The prevalence of depressive disorders in the general population increased significantly during the COVID-19 pandemic. The aim of this study is to examine the relationship between history of anxiety and depressive disorders and COVID-19 outcome, hospitalization and severity of anxiety and depression, and whether such relationships are explicable by direct impact of the disease. SUBJECTS AND METHODS: We conducted a questionnaire survey among 98 inpatients in the Department of Infectious Diseases of the Clinics of Samara State Medical University. The self-report questionnaire consisted of 120 items, including socio-demographic characteristics of participants, State-Trait Anxiety Inventory, and the Center for Epidemiologic Studies Depression Scale, with items reflecting subjective feelings about the COVID-19 pandemic. We used one-factor analysis of variance to compare between groups for those indicators that conformed to a normal distribution, and the chi-square test (χ2) or Fisher's exact test to analyze group differences in the distribution of categorical variables was used. RESULTS: The mean (SD) total score on the STAI anxiety scale among hospitalized patients (51 (10.1)) significantly exceeded that of the COMET-G control group (44.9 (11.7) (H=22.8, p<0.001). There was a similar difference in the severity of depression as measured by the CES-D scale (23.4 (12.6) versus 18.0 (11.8), H=15.2 and p<0.001). In contrast to the general population, there were no statistically significant differences in anxiety and depression severity in the matched samples 52 subjects fulfilling the criteria of age, gender, and general perception of health condition. CONCLUSIONS: Anxiety and depression scores among ICU (red zone) inpatients significantly exceeded the scores observed in the COMET-G general population group. Our study did not confirm expected relationship between symptoms of anxiety and depression (based on questionnaire response) and the risk of severe course of COVID-19 (e.g. hospitalization) in matched samples, but proved that the factor of self-awareness of health state may be related to the COVID-19 course severity. Future research would benefit from clinical interview of inpatients and follow-up monitoring of affective disorders to specify whether anxiety and particular type of depression (e.g., anxious) are selectively related to the severity of COVID-19 course and risks of affective disorders persistence after somatic recovery. The accumulation of mental disorders with age, and the bidirectional association of mood disorders and infectious diseases should be considered when assessing the risk factors.

Internet-delivered cognitive behaviour therapy for affective disorders, anxiety disorders and somatic conditions: An updated systematic umbrella review.

Background: Internet-delivered cognitive behaviour therapy (ICBT), which can involve guidance from a clinician, continues to be a way to deliver psychological treatments. A previous umbrella review identified moderate-to-large effect sizes favouring ICBT compared to control conditions when treating major depression and anxiety disorders. Given the rapid developments in the field, an updated umbrella review of available meta-analyses can show other conditions and subpopulations for which ICBT is effective. The aim of the study was to provide an expanded overview of the efficacy of ICBT for a broader range of adult psychiatric and somatic conditions. Methods: We conducted an updated search of the literature since the publication of the previous umbrella review back in 2019 and up until March 2024. Five different search engines were used (Medline (OVID), Scopus, Web of Science, Cochrane library and CINAHL). The search was expanded to include additional psychiatric conditions (e.g., suicidal ideation) and somatic conditions (e.g., tinnitus and chronic pain). Results: Of the 6509 identified articles, 39 meta-analyses met the inclusion criteria. In these meta-analyses 19 unique outcomes were represented. The most common outcome was symptoms of major depressive disorder, followed by symptoms of anxiety. Effect sizes for the comparisons against control conditions ranged between small (e.g., SMD = 0.10 for stress in employees) to large (e.g., SMD = 1.20 for depressive symptoms among older adults). Conclusions: ICBT can generally reduce symptoms of a wide range of conditions including both psychiatric and somatic conditions, as well as other mental health problems. This updated review of available meta-analyses also indicated that ICBT has been successful in treating symptoms in different subpopulations such as older adults and students. However, some knowledge gaps remain, including the use of ICBT for psychotic disorders, and the quality of the available meta-analyses' points to a need for more stringent methodological procedures.

Do not overlook the possibility of genome-edited somatic cells ending up in the human germline.

Most debates on human germline genome editing have limited discussions to just genetic modifications of sperm and eggs (gametes), their precursors within testicular or ovarian tissues, and preimplantation human embryos. What has largely been overlooked is that genome editing of somatic (non-reproductive) cells can also become heritable and can potentially be transmitted to future generations of human offspring under specific experimental conditions, due to the emergence of various new technology platforms. Most notably, the reprogramming of human somatic cells to a pluripotent "embryonic stem cell-like" state (i.e. induced pluripotent stem cells), has opened up the possibility that genome editing performed on human somatic cells can also be transmitted to future generations of human offspring when combined with other new technology platforms, such as in vitro gametogenesis, chimeric and synthetic embryos. Additionally, due to high levels of plasticity and extensive tissue remodeling within the human fetus during gestation, it is speculated that genome editing performed on fetal somatic cells intended for fetal gene therapy in utero may be unintentionally transmitted to the human germline. Hence, there should be strict regulatory oversight to ensure that any genome-edited somatic cell that ends up in the human germline via such aforementioned technology platforms does so in strict compliance with relevant legislation and ethical guidelines, especially that pertaining to safety issues with genome editing technology and its potential misuse in human enhancement and eugenics.

The mediating effect of social connectedness between internet gaming disorder and somatic symptoms in adolescents: a large sample cross-sectional study.

BACKGROUND: Previous studies have indicated that social connectedness can serve as a protective buffer against negative outcomes associated with online victimization. However, the role of social connectedness between Internet gaming disorder and somatic symptoms is still unclear. This study aims to examine the mediating effect of social connectedness on the association between Internet gaming disorder and somatic symptoms. METHODS: A cross-sectional design was utilized, using questionnaires for data collection and multi-stage stratified cluster sampling. The general demographic questionnaire, Nine-Item Internet Gaming Disorder Scale-Short Form, Social Connectedness Scale-Revised and Patient Health Questionnaire Physical Symptoms were used to collect data. We adopted Pearson's correlation analysis and the PROCESS Macro Model in regression analysis to explore the relationships among Internet gaming disorder, social connectedness and somatic symptoms. RESULTS: Internet gaming disorder was positively correlated with somatic symptoms (r = 0.20, P < 0.001), while network (r=-0.08, P < 0.001) and real-life social connectedness (r=-0.31, P < 0.001) negatively affected somatic symptoms. The network social connectedness and the real-life social connectedness played a chain mediating role in the development of Internet gaming disorder to somatic symptoms [95%CI: 0.073, 0.088], explaining 45.25% of the total effect value. The difference of real-life social connectedness and network social connectedness played a partial mediating role between Internet gaming disorder and somatic symptoms [95% CI:0.050, 0.062], accounting for 31.28% of the total effect value. CONCLUSIONS: Real-life social connectedness, network social connectedness, and their disparity all mediated the relationship between Internet gaming disorder and somatic symptoms. Real-life social connectedness acted as a protective factor, while network social connectedness served as a risk factor. Encouraging offline activities and guiding teenagers to use the internet responsibly may help prevent and reduce physical symptoms linked to Internet gaming disorder.

[Which solution to functional somatic disorder: The ACSEPT program]. / Quelle réponse au trouble somatique fonctionnel : la filière ACSEPT.

BACKGROUND: Functional somatic disorder (FSD) is a prevalent disorder that can be severely disabling for the patient and is associated with major health costs. There are few formalized care programs for these disorders in the country, and their management encounters various difficulties, both in the diagnosis and its announcement and the treatment. Cognitive-behavioural and emotional therapy (CBT) is the standard on psychiatry care, and its efficacy has been demonstrated through several randomised controlled studies on the intensity of physical and psychological symptoms. INTERVENTION: At Lille's University Hospital Center, we have established the "ACSEPT" care pathway for TSF management which consists of a psychiatric consultation followed by an individual referral, including a treatment using repeated transcranial magnetic stimulation (rTMS) or the integration of a CBT-based psychoeducation group. This group had the particularity of caring for all patients presenting FSD regardless of the associated physical symptoms. Educating medical professionals and conducting FSD research were other goals of ACSEPT. DISCUSSION/CONCLUSION: ACSEPT allows an improvement in the care offered to these patients with a defined orientation and interdisciplinary, early, organized cares that are repeatable. Our goal is to study the effectiveness of these different interventions in subsequent studies, to continue the development of ACSEPT and to be able to distribute this intervention at the regional level to establish a clear care program allowing early management of these patients.

Bioimpedance assessment of body composition in the first adulthood period of somatic types residing in highland.

The current stage of development of medical science is characterized by growing interest in constitutional typology and clinical anthropology. The anatomical-anthropological approach is an integrative technique of biology and medicine that allows us to determine the criteria for normality and pathology of a person. Purpose of the study: comparative bioimpedance assessment of somatic types of body component composition among the first mature age period people residing in highland. Study design: a comparative bioimpedance assessment of body types according to the Heath and Carter's scheme was performed to identify somatic types and body weight composition in healthy men of the 1st adulthood period living in high mountains (2469-3325 m above sea level). Somatotypical features of body composition have been established. An intertype and correlation analysis of body composition was conducted in individuals with different body types. Results: comparative bioimpedance and correlation analyses revealed differences in body composition indicators depending on population, age, body types and living conditions. Conclusion: mesoectomorphy, balanced ectomorphic, central and meso-endo types prevailed among the somatotype subgroups.

Psychosomatic health status and corresponding comorbid network analysis of college students in traditional Chinese medicine schools.

Introduction: Depression, anxiety, and somatic symptoms are highly comorbid and represent the most prevalent psychosomatic health issues. Few studies have investigated the network structure of psychosomatic symptoms among traditional Chinese medicine (TCM) students. This study aims to investigate the psychosomatic health status of college students in TCM universities, while simultaneously constructing a network structure of common somatic symptoms and psychological symptoms. Methods: Online investigation was conducted among 665 students from a university of Chinese medicine. Health Status Questionnaire, Generalized Anxiety Disorder-7 (GAD-7), and Patient Health Questionnaire-2 (PHQ-2) were used to assess the mental symptoms and physical status of participants. With the R software processing, a network model of psychosomatic symptoms was constructed. Specifically, we computed the predictability (PRE), expected influence (EI), and bridging expected influence (BEI) of each symptom. Meanwhile, the stability and accuracy of the network were evaluated using the case-deletion bootstrap method. Results: Among the participants, 277 (41.65%) subjects exhibited depressive symptoms, and 244 (36.69%) subjects showed symptoms of anxiety. Common somatic symptoms included fatigue, forgetfulness, sighing, thirst, and sweating. Within the psychosomatic symptoms network, " worrying too much about things ", "uncontrollable worries" and "weakness" exhibited the high EI and PRE, suggesting they are central symptoms. " Little interest or pleasure in doing things," " feeling down, depressed, or hopeless," " dyssomnia," and "sighing" with high BEI values demonstrated that they are bridging symptoms in the comorbid network. Conclusion: The psychosomatic health status of college students in traditional Chinese medicine schools is concerning, showing high tendencies for depression, anxiety, and somatic symptoms. There exists a complex relationship between somatic symptoms and psychological symptoms among students. " Worrying too much about things ", "uncontrollable worries" and "weakness" enable to serve as comorbid intervention targets for anxiety, depression, and somatic symptoms. Addressing " little interest or pleasure in doing things," " feeling down, depressed, or hopeless," " dyssomnia," and "sighing" may effectively prevent the mutual transmission between psychological and physical symptoms. The network model highlighting the potential targeting symptoms to intervene in the treatment of psychosomatic health.

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

PIK3CA variants are known to cause vascular malformations. We were interested in studying the phenotypic spectrum, the location within the PIK3CA gene, and the variant allele frequency (VAF) of somatic PI3KCA variants in vascular malformations. Clinical data of consecutive patients with extracranial/extraspinal vascular malformations were collected in the context of the VASCOM cohort (2008-2022, n = 558). Starting October 2020, biopsy samples were tested with the TSO500 gene panel (Illumina). All consenting patients with PIK3CA variants were included in this study. Eighty-nine patients had available genetic results by June 2022. PIK3CA variants (n = 25) were found in 16 simple/combined (nonsyndromic) vascular malformations and in nine vascular malformations associated with other anomalies (syndromic). Four hotspot variants in exons 9 and 20 (c.1624G>A, c.1633G>A, c.3140A>G, c.3140A>T) were identified in 16/25 patients (VAF 0.9%-9.7%). Six non-hotspot variants (c.328_330del, c.323_337del, c.353G>A, c.1258T>C, c.3132T>A, c.3195_3203delinsT) were detected in nine patients (VAF 3.6%-31.7%). Non-hotspot variants were more frequent in syndromic than nonsyndromic vascular malformations (p = 0.0034) and exhibited a higher VAF than hotspot variants (p = 0.0253). Our study contributes to the growing body of knowledge of the genetic background in vascular malformations. Further studies will enrich the ever-growing list of pathogenic PIK3CA variants associated with vascular malformations.

Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation.

While renal cell carcinoma (RCC) is often linked to smoking, obesity, and hypertension, hereditary forms also account for about 3% of RCC cases. Notably, NCCN guidelines identify 7 major hereditary syndromes associated with an increased RCC risk. Inherited mutations in DNA repair genes, such as ATM, BRCA, and TP53, significantly increase the risk of various cancers. Biallelic pathogenic mutations in ATM cause Ataxia-Telangiectasia (A-T) syndrome, while heterozygous germline pathogenic ATM mutations, present in about 1% of the population, also elevate cancer risk. RCC has not traditionally been associated with germline pathogenic ATM mutations, only limited retrospective analyses have identified such mutations. This case report presents a 68-year-old woman with a germline pathogenic ATM mutation (c.8786+1 G>A) who developed high-risk clear cell RCC followed by an acquired somatic VHL mutation in RCC and a 3-cm serous cystadenoma, illustrating the double-hit phenomenon. Her brother, who shares the same germline pathogenic mutation, was diagnosed with pancreatic cancer and prostate cancer. This case highlights the potential use for enhanced screening protocols for RCC in patients who have germline pathogenic ATM mutations and the importance of research in targeted treatments for tumors driven by dual genetic mechanisms. Increased awareness and vigilant screening for RCC are crucial in managing hereditary cancer syndromes effectively.

Screen time and mental health: a prospective analysis of the Adolescent Brain Cognitive Development (ABCD) Study.

BACKGROUND: Despite the ubiquity of adolescent screen use, there are limited longitudinal studies that examine the prospective relationships between screen time and child behavioral problems in a large, diverse nationwide sample of adolescents in the United States, which was the objective of the current study. METHODS: We analyzed cohort data of 9,538 adolescents (9-10 years at baseline in 2016-2018) with two years of follow-up from the Adolescent Brain Cognitive Development (ABCD) Study. We used mixed-effects models to analyze associations between baseline self-reported screen time and parent-reported mental health symptoms using the Child Behavior Checklist, with random effects adjusted for age, sex, race/ethnicity, household income, parent education, and study site. We tested for effect modification by sex and race/ethnicity. RESULTS: The sample was 48.8% female and racially/ethnically diverse (47.6% racial/ethnic minority). Higher total screen time was associated with all mental health symptoms in adjusted models, and the association was strongest for depressive (B = 0.10, 95% CI 0.06, 0.13, p < 0.001), conduct (B = 0.07, 95% CI 0.03, 0.10, p < 0.001), somatic (B = 0.06, 95% CI 0.01, 0.11, p = 0.026), and attention-deficit/hyperactivity symptoms (B = 0.06, 95% CI 0.01, 0.10, p = 0.013). The specific screen types with the greatest associations with depressive symptoms included video chat, texting, videos, and video games. The association between screen time and depressive, attention-deficit/hyperactivity, and oppositional defiant symptoms was stronger among White compared to Black adolescents. The association between screen time and depressive symptoms was stronger among White compared to Asian adolescents. CONCLUSIONS: Screen time is prospectively associated with a range of mental health symptoms, especially depressive symptoms, though effect sizes are small. Video chat, texting, videos, and video games were the screen types with the greatest associations with depressive symptoms. Future research should examine potential mechanisms linking screen use with child behavior problems.

Genomic alterations in retinoblastoma tumors of Argentine patients.

INTRODUCTION: Retinoblastoma is initiated by inactivation of RB1 gene, but additional alterations may be required for tumor progression. Substitution and INDEL variants in different genes, aside RB1, are infrequent, while large copy number variants (CNVs) like gains on 1q, 2p, 6p and loss on 16q are common, they include oncogenes or tumor suppressors and are typical of retinoblastoma. AIM: To provide the molecular profile that is useful for prognosis and understanding of retinoblastoma development. METHODS: To identify genomic variants in six retinoblastoma tumors whole exome sequencing and informatic analysis were performed. RESULTS: RB1 was the only gene with nonsense or frameshift mutations. SNVs in other 11 genes were missense and at non-canonical splice-sites, all nonpathogenic. CNVs, similar to those reported, were identified in all retinoblastoma tumors. The most frequent were 1q gain and 16q loss. Additionally, deletions were identified on 13q, including RB1 gene, and on the X chromosome, including BCOR gene, the most frequently mutated, after RB1, in retinoblastoma. The number of CNVs detected in each tumor was between 1 and 7, depending on the age at diagnosis. CONCLUSION: The analysis of genomic alterations in retinoblastoma is useful to understand the severity of tumor progression and to apply appropriate treatments.

Complete genome sequences of eight Pasteurella multocida isolates representing all lipopolysaccharide outer core loci.

Pasteurella multocida (PM) is a major bacterial pathogen that causes fowl cholera disease in both domestic poultry and wild birds. Here, we report the complete genome sequences of eight PM isolates representing all known lipopolysaccharide outer core loci, which are phenotypically expressed as 16 known PM serotypes.

Screening for Psychiatric Disorders in Chronic Rhinosinusitis Patients Waiting for Surgery: A Prospective Cross-Sectional Study.

OBJECTIVE: To assess the prevalence of depression, anxiety, insomnia and somatic symptom disorder (SSD) in chronic rhinosinusitis (CRS) patients who were waiting for surgery and to predict these psychiatric disorders using the 22-item Sinonasal Outcome Test (SNOT-22). DESIGN: A prospective cross-sectional study. SETTING: The rhinology ward at our institution, a tertiary hospital. PARTICIPANTS: Adult patients (> 18 years) diagnosed with CRS who were admitted to the rhinology ward for endoscopic sinus surgery and were able to understand and complete the study questionnaires. MAIN OUTCOME MEASURES: Patient Health Questionnaire-9 (PHQ-9), Generalised Anxiety Disorder-7 (GAD-7), Insomnia Severity Index (ISI), Patient Health Questionnaire-15 (PHQ-15) and SNOT-22. RESULTS: Of the 159 participants recruited, 58 were at risk of depression (defined by PHQ-9 > 4, while 25 with PHQ-9 > 9), 49 were at risk of anxiety (defined by GAD-7 > 4, while 25 with GAD-7 > 9), 81 were at risk of insomnia (defined by ISI > 7, while 51 with ISI > 14) and 69 were at risk of SSD (defined by PHQ-15 > 4, while 24 with PHQ-15 > 9). The SNOT-22 score was closely correlated with the scores of psychometric tests and was an independent predictor of these psychiatric disorders. Patients with a high SNOT-22 score (> 30) are likely to be affected by comorbid psychiatric disorders and should be further evaluated by otolaryngologists. CONCLUSION: Depression, anxiety, insomnia and SSD are prevalent in CRS patients. Otolaryngologists should have a low threshold to ask the patient about psychiatric symptoms, especially for patients with an SNOT-22 score > 30.

Preliminary identification of somatic mutations profile in ACL injury.

Anterior cruciate ligament (ACL) injury is a common orthopedic disease with a high incidence, long recovery time, and often requiring surgical treatment. However, the susceptibility factors for ACL injury are currently unclear, and there is a lack of analysis on the differences in the ligament itself. Previous studies have focused on germline mutations, with less research on somatic mutations. To determine the role of somatic mutations in ACL injuries, we recruited seven patients between the ages of 20 and 39 years diagnosed with ACL injuries, collected their peripheral blood, injured ligament ends, and healthy ligament ends tissues, and performed exome sequencing with gene function enrichment analysis. We detected multiple gene mutations and gene deletions, which were only present in some of the samples. Unfortunately, it was not possible to determine whether these somatic mutations are related to ligament structure or function, or are involved in ACL injury. However, this study provides valuable clues for future in-depth research.

Somatic and germline mutations in endometrial cancer.

Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as PTEN, PIK3CA, TP53, MLH1, and MSH2. Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.

FAT4 Mutation is Related to Tumor Mutation Burden and Favorable Prognosis in Gastric Cancer.

Objective: This study aimed to investigate the frequently mutated genes in Gastric Cancer (GC), assess their association with Tumor Mutation Burden (TMB) and the patients' survival, and identify the potential biomarkers for tailored therapy. Methods: Simple somatic mutation data of GC were collected from the TCGA and ICGC databases. The high-frequency mutated genes were identified from both datasets. The samples were initially dichotomized into wild-type and mutation groups based on the status of overlapping genes. TMB difference between the two groups was evaluated by the Mann-Whitney U-test. Survival difference between the two groups was compared by the Kaplan-Meier method with a log-rank test. The prognostic value of the target gene was assessed by the Cox proportional hazards model. The signaling pathways involved in FAT4 mutation were identified by Gene Set Enrichment Analysis (GSEA). The fractions of different tumor-infiltrating immune cells were calculated by the CIBERSORT algorithm. Results: 21 overlapping genes with frequent mutation were identified in both datasets. Mutation of these genes was significantly associated with higher TMB (P<0.05) in GC. The survival of the FAT4 mutation group was superior to the wild-type group. FAT4 mutation was also identified as an independent favorable prognostic factor for the GC patients. GSEA indicated that FAT4 mutation activated the signaling pathways involved in energy metabolism. Finally, CD4 memory-activated T cells, follicular helper T cells, and gamma delta T cells were significantly more enriched, while naïve B cells and regulatory T cells (Tregs) were significantly less enriched in the FAT4 mutation group (P<0.05). Conclusion: FAT4 mutation is relevant to TMB and favorable prognosis in GC, which may become a useful biomarker for immunotherapy of GC patients.

Exploring the Link Between Somatic and Psychiatric Symptoms in Patients With Medically Unexplained Physical Symptoms: A Cross-Sectional Survey From North India.

BACKGROUND: The association between somatic symptoms and psychiatric co-morbidities remains unexplored among patients with medically unexplained physical symptoms (MUPS) in Asian populations. This study aims to bridge this gap by investigating psychiatric morbidities and their determinants among patients presenting with MUPS in an Indian setup. METHODOLOGY: This cross-sectional study, conducted in the outpatient department (OPD) of a tertiary care hospital in India, assessed 200 patients diagnosed with MUPS. Assessment tools, such as the Somatic Symptom Scale (SSS-8), Presumptive Stressful Life Event Scale (PSLES), and Depression, Anxiety, and Stress Scale (DASS), were administered to collect data. RESULTS: The study examined patients (mean age 36.51±9.82 years), predominantly comprising females (67.5%), presenting with MUPS. Common presenting symptoms were general (96.3%), musculoskeletal pain (91.7%), and gastrointestinal symptoms reported by 81.7%. Medium somatic symptom severity (57%) was more prevalent in females. Prevalent psychiatric co-morbid conditions included depression (mild: 22.0%, moderate: 26.5%), moderate anxiety (41.5%), and moderate stress (26%). Strong associations were observed between the SSS-8 score and depression (χ²(6, N = 200) = 49.26, p < 0.001), anxiety (χ²(8, N = 200) = 37.90, p < 0.001), stress (χ²(6, N = 200) = 44.45, p < 0.001), and the experience of stressful life events (χ²(3, N = 200) = 6.5, p < 0.05). CONCLUSION: The study indicates an intertwined association between MUPS and psychiatric disorders. Individuals with MUPS commonly experience heightened anxiety and depression, emphasizing the complex interplay between somatic symptoms and emotional well-being. Consideration of environmental and social factors may be crucial for a comprehensive understanding.

Investigating the Effects of Visual Feedback on Muscle Activity, Heart Rate, RPE, and Perceptions of Performance in Ballet Dancers.

Extreme postures and imbalances in neuromuscular activity may place classical ballet dancers at higher risk of injury. Dance studio mirrors provide visual feedback by which a dancer can self-correct their body position and alignment, but have been suggested to negatively impact kinesthetic abilities and decrease performance capabilities. Thus, we investigated the effects of a mirror on muscle activity of the quadriceps, heart rate (HR), rating of perceived exertion (RPE), and qualitative performance. A lack of visual feedback would increase muscle activity of the quadriceps, HR, and RPE, and decrease self-reported perception of technical quality. 10 female participants completed a single leg balance, an adagio, and a jump task twice - once in each condition. Muscle activity of the vastus lateralis (VL) and vastus medialis oblique (VMO), as well as HR and RPE were assessed during each combination. Qualitative performance was assessed with an exit survey. No significant differences were found between conditions for RPE or HR in all three tasks (RPE: Balance p = 0.468, Adagio p = 0.191, Jumps p = 0.769; HR: Balance p = 0.409, Adagio p = 0.424, Jumps p = 0.244). No significant differences were found between conditions/tasks for peak, mean, and RMS sEMG. Dancers significantly ranked their artistic expression lower in a non-mirror condition (p = 0.018, Cohen's d = 0.775). No differences in muscle activity of the VMO and VL or vital signs of fatigue were found. Psychological implications of visual feedback, including dancer's perceived decrease in artistic expression without a mirror present, should be further explored in future studies.

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

Short tandem repeat expansions in the human genome are overrepresented in a variety of neurological disorders. It was recently shown that huntingtin (HTT) repeat expansions with full penetrance, i.e. 40 or more CAG repeats, which normally cause Huntington's disease (HD), are overrepresented in patients with amyotrophic lateral sclerosis (ALS). Whether patients carrying HTT repeat expansions with reduced penetrance, (36-39 CAG repeats), or alleles with intermediate penetrance, (27-35 CAG repeats), have an increased risk of ALS has not yet been investigated. Here, we examined the role of HTT repeat expansions in a motor neuron disease (MND) cohort, searched for expanded HTT alleles, and investigated correlations with phenotype and neuropathology. MND patients harboring C9ORF72 hexanucleotide repeat expansions (HREs) were included, to investigate whether HTT repeat expansions were more common in this group. We found a high prevalence of intermediate (range 5.63%-6.61%) and reduced penetrance (range 0.57%-0.66%) HTT gene expansions in this cohort compared to other populations of European ancestry, but no differences between the MND cohort and the control cohort were observed, regardless of C9ORF72HRE status. Upon autopsy of three patients with intermediate or reduced penetrance HTT alleles, huntingtin inclusions were observed in the caudate nucleus and frontal lobe, but no significant somatic mosaicism was detected in different parts of the nervous system. Thus, we demonstrate, for the first time, huntingtin inclusions in individuals with MND and intermediate and reduced penetrance HTT repeat expansions but more clinicopathological investigations are needed to further understand the impact of HTT gene expansion-related pleiotropy.