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The sarcopenic obesity-related phenotype (SOP) is defined by the coexistence of sarcopenia and obesity, leading to heightened disability, morbidity, and mortality. Its multifactorial pathogenesis involves chronic inflammation and metabolic alterations. In this cross-sectional study, 562 women were classified into four groups: control, sarcopenic, obese, and SOP. Body composition measurements, including fat mass, skeletal muscle mass, and extracellular water (ECW), were assessed using the bioimpedance method. Several inflammatory biomarkers were measured in plasma samples by ELISA. Discriminant function analysis identified age, ECW, chemerin, the systemic immune-inflammation index (SII), and the ratio of total cholesterol to high-density lipoprotein cholesterol (TC/HDL-C) as significant discriminators among groups, clearly distinguishing SOP from control. Multivariable logistic regression analysis revealed that these variables were independently associated with SOP status (SOP vs. control), regardless of age, with odds ratios (ORs) ranging from 1.87 (95% confidence interval [CI]: 1.23–2.85) for SII to 7.77 (95% CI: 3.67–16.44) for ECW. A generalized estimating equation (GEE) analysis further demonstrated that SOP significantly increased the odds (OR: 3.04; 95% CI: 1.39–6.67) of multimorbidity (hypertension (HTN) + hyperlipidemia (HLD) + type 2 diabetes (D2T)). These findings suggest SOP is a clinically relevant phenotype linked to cardiometabolic comorbidities and systemic inflammation. Identifying SOP using accessible body composition and biomarker assessments may support early risk stratification and guide personalized preventive strategies in clinical care.

Vitamin D deficiency (VDD) is a widespread human condition closely associated with musculoskeletal disorders, involving alterations in body composition and systemic inflammation. In this cross-sectional study, 1075 adults were classified into a VDD (n = 304) group and a VD sufficient (VDS) group (n = 771). Body composition measurements, including the fat mass-to-weight ratio (FM/WT), were assessed using bioelectrical impedance analysis. Plasma levels of IL-9, IL-34, and MCP-1 were also measured. Data on osteoporosis (OP) and knee osteoarthritis (KOA) were collected. Regression analyses indicated that FM/WT was independently associated with VDD, which in turn was linked to elevated IL-34 levels. Individuals with VDD had a significantly higher prevalence of OP and KOA compared with those with VDS. Structural equation modeling confirmed and quantified these associations, suggesting that FM/WT is a significant predictor of VDD status (β = 0.305, 95% CI: 0.231–0.367). VDD is directly associated with elevated IL-34 levels (β = 0.353, 95% CI: 0.308–0.398), while IL-34 levels, in turn, are a possible cause of KOA (β = 0.573, 95% CI: 0.460–0.687) and OP (β = 0.433, 95% CI: 0.329–0.536). Our data clearly demonstrate existence of a physiological-pathological continuum: obesity-VDD-IL-34 and both OP and KOA.

Knee osteoarthritis (KOA) is one of the most common progressive, age-dependent chronic degenerative joint diseases. KOA often develops as a result of a gradual articular cartilage loss caused by its wear and tear. Numerous studies suggest that the degradation of the knee joint involves inflammatory components. This process is also associated with body composition, particularly being overweight and muscle mass loss. The present study aimed to search for novel circulating KOA inflammatory biomarkers, taking into account body composition characteristics. To this aim, we recruited 98 patients diagnosed and radiologically confirmed with KOA and 519 healthy controls from the Arab community in Israel. A panel of soluble molecules, related to inflammatory, metabolic, and musculoskeletal disorders, was measured by ELISA in plasma samples, while several body composition parameters were assessed with bioimpedance analysis. Statistical analysis, including multivariable logistic regression, revealed a number of the factors significantly associated with KOA, independently of age and sex. The most significant independent associations [OR (95% CI)] were fat body mass/body weight index—1.56 (1.20–2.02), systemic immune-inflammation index—4.03 (2.23–7.27), circulating vaspin levels—1.39 (1.15–1.68), follistatin/FSTL1 ratio—1.32 (1.02–1.70), and activin A/FSTL1 ratio—1.33 (1.01–1.75). Further clinical studies are warranted to confirm the relevance of these KOA-associated biological factors. Hereafter, they could serve as reliable biomarkers for KOA in the general human population.

Objective: We aimed to compare executive functions (EF), anxiety, social participation, and quality of life (QoL) between children with migraine and healthy controls during the COVID-19 pandemic, and to examine these parameters in children in each group who did vs. did not contract COVID-19. Materials and Methods: A prospective cohort study was carried out. The patient group comprised children seen in our pediatric neurology clinic for migraine, and the control group was composed of aged-matched healthy children with no neurological findings or developmental disorders. The participants’ parents completed a health and demographic questionnaire, the BRIEF (child/adolescent version), the PedsQL, the State–Trait Anxiety Inventory for Children (STAIC), and the CASP. The participants or their parents furnished information on whether the participant had contracted COVID-19. Results: A total of 84 children and adolescents aged 6–17.5 (mean of 12.8) participated in the study, including 33 with migraine (17 boys, 16 girls) and 51 healthy controls (28 boys, 23 girls). The children with migraine showed significantly lower EF due to reduced behavioral regulation, higher trait anxiety, and lower physical, emotional, and school-related QoL. Reduced EF correlated with the intensity of migraine attacks, higher anxiety, reduced social participation, and reduced QoL. Lower social participation correlated with reduced QoL and predicted emotional and social QoL. The BRIEF metacognition scale predicted school-related QoL. Healthy children who contracted COVID-19 showed significantly lower EF than children with migraine in the inhibition (56.66 ± 10.56 vs. 45.71 ± 7.12, p = 0.013) and initiation (60.01 ± 11.89 vs. 46.01 ± 6.54, p = 0.005) BRIEF scales, and in the general metacognition index (65.83 ± 14.48 vs. 46.75 ± 9.19, p = 0.003). Healthy children who contracted COVID-19 had significantly worse initiation and working memory compared to those who did not contract COVID-19 (initiation: 60.01 ± 11.89 vs. 46.81 ± 8.89, p = 0.007), working memory: 61.16 ± 15.48 vs. 47.21 ± 11.06, p = 0.021). Conclusion: Migraine has a significant negative impact on executive functions in children and adolescents, greater than contracting COVID-19. Executive dysfunction influences patients’ emotional state, participation in social activities, and quality of life. The COVID-19 pandemic had a less deleterious effect on migraine patients compared to the healthy control group. Further research on pediatric migraine is warranted.

In this study, we evaluated the contribution of the putative genetic factors into the established associations between selected circulating adipokine levels, body composition measurements, and low-back-pain-related disability scores (LBP_DS). A total of 1078 individuals from 98 nuclear families (with 1 to 11 siblings per family) were examined. A detailed self-report questionnaire was used to collect LBP disability data; body composition (fat, skeletal muscle mass, and extracellular water (ECW)) was assessed using the bioimpedance method; plasma levels of adipokines were measured by ELISA. Pedigree-based statistical analysis methods were used, including family-based variance component analysis (VCA) and principal phenotype analysis (PPA), to estimate the contribution of potential genetic and environmental factors. The VCA revealed a significant additive genetic component in LBP_DS and for the selected body composition phenotypes and adipokines. The study also revealed that both adipokines (GDF-15, chemerin, and follistatin) and body composition variables (BMI, fat mass/weight, waist circumference, and ECW) were genetically correlated with LBP_DS. Next, PPA generated two synthetic phenotypes: PPCT (combining cytokines) and PPBC (combining body composition variables). There was no significant correlation between the putative genetic factors underlying the created PPs. However, each of them displayed a significant genetic correlation with LBP_DS. These findings indicate that genetic factors that are assumingly common for several adipokine variations and several body composition measurements, respectively, presumably have a pleotropic genetic influence on the LBP_DS variation, independently from one another. This, in turn, suggests that the alleged genetic factors employing pleiotropic effects on LBP_DS have a complex and probably non-overlapping composition.

Musculoskeletal pain (MSP), specifically low back pain (LBP), is often associated with several adipose tissue-derived cytokines (adipokines) and body composition, but their correlations with the LBP-related disability/severity phenotypes remain poorly understood. In this cross-sectional study, two self-reported validated questionnaires were used to collect back pain and disability data in an ethnically homogeneous family-based population sample (N = 1078). Plasma levels of relatively new adipokines, vaspin and adipsin, were detected by ELISA. Body composition parameters, including fat, skeletal muscle mass, extracellular water (ECW), and others were assessed through bioelectrical impedance analysis (BIA) technology. Statistical analysis was conducted, accounting for the familial composition of the sample. The multiple regression analyses with four LBP-related phenotypes as dependent variables consistently showed, for the first time, the significant associations with vaspin levels, regardless of other covariates. The odds ratios (OR)/SD ranged between 1.24 (95%CI = 1.03–1.50) and 1.33 (95%CI = 1.07–1.64), depending on the LBP phenotype. Among the tested body composition covariates, only ECW levels displayed consistent and highly significant associations with all tested LBP phenotypes (OR from 1.43, 95%CI = 1.14–1.79 to 1.68, 95%CI = 1.26–2.24). The results clearly suggest that circulating concentrations of vaspin and ECW levels could serve as biomarkers of MSP/LBP severity and complications.

Purpose Sengers-syndrome (S.S) is a genetic disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. All reported cases were genetically caused by biallelic mutations in the AGK gene. We herein report a pathogenic variant in TIMM29 gene, encoding Tim29 protein, as a novel cause of S.S. Notably, AGK and Tim29 proteins are components of the TIM22 complex, which is responsible for importing carrier proteins into the inner mitochondrial membrane. Method Clinical data of 17 consanguineous patients featuring S.S was obtained. Linkage analysis, and sequencing were used to map and identify the disease-causing gene. Tissues derived from the study participants and a Drosophila melanogaster model were used to evaluate the effects of TIMM29 variant on S.S. Results The patients presented with a severe phenotype of S.S, markedly elevated serum creatine-phosphokinase, combined mitochondrial-respiratory-chain-complexes deficiency, reduced pyruvate-dehydrogenase complex activity, and reduced adenine nucleotide translocator 1 protein. Histopathological studies showed accumulation of abnormal mitochondria. Homozygosity mapping and gene sequencing revealed a biallelic variant in TIMM29 NM_138358.4:c.514T > C NP_612367.1:p.(Trp172Arg). The knockdown of the Drosophila TIMM29 orthologous gene ( CG14270 ) recapitulated the phenotype and pathology observed in the studied cohort. We expand the clinical phenotype of S.S and provide substantial evidence supporting TIMM29 as the second causal gene of a severe type of S.S, designated as S.S- TIMM29 . Conclusion The present study uncovers several biochemical differences between the two S.S types, including the hyperCPKemia being almost unique for S.S- TIMM29 cohort, the different frequency of MMRCC and PDHc deficiencies among the two S.S types. We propose to designate the S.S associated with TIMM29 homozygous variant as S.S- TIMM29 .

Low back pain (LBP) is one of the major disabling health conditions in aging societies presenting significant cost burdens to health and social care systems. Its complications and associated disability are often accompanied by mental disorders, metabolic comorbidities, changed body composition, and inflammation. However, their mutual relationships in LBP-associated disability remain unclear. In the present case-control study, a self-report validated questionnaire was used to collect LBP disability data in an ethnically homogeneous Israeli Arab sample (489 males and 589 females). Body composition parameters were assessed through bioelectrical impedance analysis and plasma levels of soluble markers by EISA. Comorbidity status was assessed in personal interview and from the individual medical files. Our mixed multiple regression analysis identified that GDF-15 (β = 0.160, p = 2.95×10-8), vaspin (β = 0.085, p = 0.003), follistatin (β = 0.076, p = 0.001), extracellular water (β = 0.096, p = 0.001), waist hip ratio (β = 0.072, p = 0.009), mental disorders (β = 0.077, p = 0.001), and metabolic comorbidities (β = 0.059, p = 0.02) were significantly associated with LBP disability scores, when controlling for age and sex effects. Additive Bayesian network modelling further suggests that LBP disability appears to be directly influenced by age, sex, GDF-15, and extracellular water, and indirectly by mental and metabolic disorders, waist-hip ratio, and follistatin. LBP, in turn, seems to affect the vaspin levels directly. Our data suggest the existence of a complex, age-associated, and probably hierarchical, relationship between LBP disability and mental and metabolic disorders, inflammation-related soluble markers, and body composition parameters.

Background Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum disorder (ASD), PMS is characterized by multiple neurologic, behavioral and multisystemic manifestations. Methods We aimed to establish a database of individuals with PMS in Israel. All participants underwent a detailed evaluation at a single medical center, and demographic, clinical, and genetic data were collected. Results Seventeen unrelated individuals with PMS (mean age 10 ± 8.2 years; range, 2.5–36 years) were enrolled (10 females, 59%), all of Jewish descent. Twelve cases (70%) were caused by deletions in chromosomal region 22q13.3, including mosaicism, ring chromosome and unbalanced translocation. The other 5 (30%) cases were due to single nucleotide variants (SNVs), while the de novo SNV c.3904dup (p.Ala1302GlyfsTer69), recurred in 3 cases. All 17 participants had GDD/ID (which was severe in 10, 59%), and ASD and seizures were present in 12 (70%) and 8 (47%) individuals, respectively. Additional frequent manifestations were sleep difficulties in 13 individuals (76%), bowel movement disorders in 13 (76%), urinary track involvement in 8 (47%) and endocrine disorders in 6 (35%). Abnormal but nonspecific findings on prenatal ultrasonography were noted in 3 participants (18%). The most common perinatal complication was prolonged jaundice in 5 infants (29%). Different medical treatment modalities, including cannabidiol (CBD) full-spectrum oil extracts, were used to ease symptoms, with variable results. Conclusions Our experience adds to current knowledge about clinical manifestations and potential symptomatic treatment of PMS in Israel. These findings may promote clinical research and serve as infrastructure for future clinical trials.

The associations of cardiovascular disease (CVD) with comorbidities and biochemical and body composition measurements are repeatedly described but have not been studied simultaneously. In the present cross-sectional study, information on CVD and comorbidities [type 2 diabetes mellitus (T2DM), hypertension (HTN), and hyperlipidemia (HDL)], body composition, levels of soluble markers, and other measures were collected from 1079 individuals. When we examined the association of each comorbidity and CVD, controlling for other comorbidities, we observed a clear pattern of the comorbidity-related specific associations with tested covariates. For example, T2DM was significantly associated with GDF-15 levels and the leptin/adiponectin (L/A) ratio independently of two other comorbidities; HTN, similarly, was independently associated with extracellular water (ECW) levels, L/A ratio, and age; and HDL was independently related to age only. CVD showed very strong independent associations with each of the comorbidities, being associated most strongly with HTN (OR = 10.89, 6.46–18.38) but also with HDL (2.49, 1.43–4.33) and T2DM (1.93, 1.12–3.33). An additive Bayesian network analysis suggests that all three comorbidities, particularly HTN, GDF-15 levels, and ECW content, likely have a main role in the risk of CVD development. Other factors, L/A ratio, lymphocyte count, and the systemic inflammation response index, are likely indirectly related to CVD, acting through the comorbidities and ECW.