Search Results (6,528)

Background: Chung–Jansen syndrome (CHUJANS) is a rare autosomal dominant genetic condition caused by pathogenic variants in the PHIP gene, which encodes a protein involved in neurodevelopmental processes and IGF-1 signalling. The phenotype is characterised by variable degrees of intellectual disability, early-onset obesity or overweight, distinctive facial dysmorphisms, and behavioural disturbances. We here present a case of Chung–Jansen syndrome with a detailed endocrine work-up, highlighting the metabolic component of this syndrome. Case Presentation: We describe the case of a 21-year-old woman referred to our centre for evaluation of oligomenorrhea in the context of severe obesity (BMI 50.4 kg/m²), short stature (151 cm, <3rd percentile), and moderate-to-severe intellectual disability (full-scale IQ 38). Physical examination revealed dysmorphic features, including a round face, upslanting palpebral fissures, prominent zygomatic bones, anteverted nares, a prominent chin, and bilateral brachydactyly type E1. Laboratory investigations documented subclinical primary hypothyroidism of autoimmune origin, impaired glucose tolerance with associated hyperinsulinism, and polyendocrine metabolic ovarian syndrome (PMOS, previously known as PCOS). Exome analysis by next-generation sequencing (NGS) identified a heterozygous c.328C>T [p.(Arg110Cys)] variant in the PHIP gene, already reported in literature and classified as likely pathogenic (ACMG class 4). Segregation analysis in the mother (father was not available for the test) did not reveal the variant, suggesting a de novo origin in the patient. Concurrently, the same analysis revealed a variant of uncertain significance in the ANKRD17 gene, while array-CGH detected a maternally inherited microdeletion of uncertain significance on chromosome X (Xp11.23). Conclusions: This case confirms the association between the PHIP p.(Arg110Cys) variant and the phenotype of Chung–Jansen syndrome, providing a detailed characterisation of the endocrine and psychiatric comorbidities. Indeed, our report expands the knowledge on the endocrine phenotype providing further suggestion for personalised patient management. It underscores the importance of NGS in the diagnostic workup of syndromic obesity with intellectual disability, especially in the presence of negative family history and prior inconclusive genetic testing. This case suggests the inclusion of comprehensive endocrine evaluations in future studies on patients with Chung–Jansen syndrome, in order to support endocrine work-up and facilitate early identification and appropriate management of potentially treatable alterations. Full article

Background: Increasing evidence suggests that breast milk and its bioactive components, including short-chain fatty acids and the milk microbiome, are influenced by maternal nutrition and body mass index (BMI). Bioactive components transferred to the infant through breast milk play a pivotal role in infant growth and development and have indications in the child’s future short- and long-term health outcomes. This study aimed to assess the impact of maternal pre-pregnancy BMI (PP-BMI) on human breast milk macronutrient composition, short- and long-chain fatty acid profiles, and breast milk microbiome profiles. Approach: This was an exploratory cohort study of forty-four lactating Caucasian women, two to fourteen weeks postpartum, divided into groups based on pre-pregnancy body mass index (BMI). Study participants signed informed consent, completed health and nutritional surveys, and provided a breast milk sample. Breast milk samples were subjected to proximate analysis, microbiome identification and short- and long-chain fatty acid extraction and analysis. Results: Maternal age, maternal physical activity, infant birth weight, and time of lactation at sample collection were not significantly different between the maternal PP-BMI groups. PP-BMI was significantly different between the two maternal groups. No significant differences were found between the maternal BMI groups concerning nutritional intake. No differences in breast milk microbiomes were observed in alpha diversity and beta diversity between the maternal PP-BMI groups. For long-chain fatty analysis in breast milk samples, myristic acid was significantly higher in the PP-BMI overweight/obese group while stearic acid was significantly higher in the PP-BMI normal-weight group. Butyric, valeric, and isocaproic acid concentrations in HBM were significantly higher in the PP-BMI normal-weight group and lower or undetectable in the PP-BMI overweight/obese group. Conclusions: Data from this exploratory cohort study indicate that maternal diet and pre-pregnancy BMI may be associated with differences in selected HBM fatty acids. There were no significant differences in microbiomes for alpha and beta diversity in breast milk between maternal PP-BMI groups; however, lower relative abundance was observed in the breast milk of the PP-BMI overweight/obese group. These findings should be interpreted in the context of the study’s limitations, including convenience recruitment from a Facebook group, the modest sample size, and restriction to Caucasian women from a single geographic region. Full article

Background: Childhood obesity remains a major public health challenge worldwide, with increasing prevalence across Europe. Schools represent an important setting for promoting healthy lifestyles through physical activity and nutrition-related interventions. This systematic review aimed to evaluate the effectiveness of school-based interventions promoting physical activity and healthy eating behaviours among children and adolescents aged 6–18 years in European countries. Methods: A systematic literature review was conducted using PubMed and Scopus. Studies were eligible if they were conducted in school settings, targeted children and adolescents aged 6–18 years, were implemented in European countries, had a minimum duration of nine months, and assessed anthropometric and/or behavioural outcomes related to obesity prevention. Methodological quality was assessed using the Effective Public Health Practice Project (EPHPP) Quality Assessment Tool. Results: Sixteen studies conducted across nine European countries met the inclusion criteria. Intervention duration ranged from nine months to five years, and most studies employed multicomponent approaches combining physical activity promotion, nutrition education, environmental modifications, and parental involvement. Seven studies were rated as strong quality, six as moderate quality, and three as weak quality. Among the fourteen studies assessing BMI or other anthropometric outcomes, eleven (78.6%) reported statistically significant improvements in at least one obesity-related measure, including BMI, BMI z-score, waist circumference, waist-to-height ratio, body fat percentage, or overweight/obesity prevalence. Evidence regarding physical activity and nutrition-related outcomes was more heterogeneous, although several studies reported improvements in dietary behaviours, nutrition knowledge, sedentary behaviour, and physical activity levels. Positive anthropometric effects were more commonly observed in interventions lasting at least one academic year and in multicomponent programmes. Some studies also reported differential effects according to sex and parental educational background. Conclusions: The findings of this review suggest that long-term, multicomponent school-based interventions can contribute to improving obesity-related anthropometric outcomes among children and adolescents in European countries. However, evidence regarding sustained changes in physical activity and dietary behaviours remains less consistent. Future research should focus on identifying the most effective intervention components and strategies for achieving long-term behavioural change across diverse populations and educational contexts. Full article

Background: Obesity and metabolic syndrome (MS) often co-exist; however, these conditions can exist independently as metabolically healthy obesity (MHO) and as metabolic obesity (MO). Methods: We investigated the association between metabolic status and body weight and risk of obstructive angiographic coronary artery disease (CAD), long-term major adverse cardiovascular events (MACEs), and all-cause mortality in women with signs/symptoms of ischemic heart disease (IHD) enrolled in the original cohort of the Women’s Ischemia Syndrome Evaluation (WISE) study (1997–2001) followed for mortality for a median of 8.6 years (range: 0–11.3 years). Normal weight (NW) was defined as a body mass index (BMI) < 25 kg/m², overweight (OW) was defined as a BMI of 25–29 kg/m², obesity (O) was defined as ≥30 kg/m². MS was defined according to the NCEP ATP III Harmonized definition, metabolically healthy (MHO) was defined as obesity in the absence of MS, and MO was defined as MS in NW individuals. Results: 503 women were evaluated including 20.7% MH-NW, 14.7% MH-OW, 8.5% MHO, 6.2% MO, 21.9% MS-OW, 28.0% MS-O. Compared to MH-NW (reference), MHO was associated with a lower risk of MACEs (aHR 0.50; 95% CI 0.29, 0.85, p = 0.011) and mortality (aHR 0.50; 95% CI 0.27, 0.95, p = 0.035). MO was associated with higher odds of obstructive CAD (aOR 2.10; 95% CI 1.33, 3.33, p = 0.002) and a higher risk of MACEs (aHR 1.67, 95% CI 1.07, 2.59, p = 0.023). Conclusions: In women with suspected IHD, compared with MH-NW, MHO was associated with a lower risk of MACEs and mortality, whereas MO had higher odds of obstructive CAD and a greater MACE risk. These findings challenge simplistic BMI-based risk paradigms and emphasize the benefits of using metabolic status assessment over weight alone. Full article

Background/Objectives: Multi-strain Limosilactobacillus fermentum supplementation has been reported to promote weight loss outcomes in free-living conditions, but limited evidence exists on these probiotic strains added to an energy-restricted diet and walking program in overweight adults. Methods: In a double-blind, placebo-controlled, parallel-arm randomized trial, overweight adults (35.2 ± 13.2 years old, 167.6 ± 8.6 cm, 79.9 ± 11.8 kg, 28.4 ± 2.7 kg/m² body mass index, 36.1 ± 6.6% body fat) completed a 12-week weight loss program that included a 500 kcal/day energy deficit and walking 10 k steps/d. Participants ingested one daily capsule containing a three-strain probiotic blend (L. fermentum K7-Lb1, L. fermentum K8-Lb1, L. fermentum K11-Lb3; 6 billion CFU/day) (PRO) or maltodextrin placebo (PLA). Assessments were performed at baseline, week 6, and week 12 and included body composition, resting energy expenditure, substrate utilization, peak oxygen uptake, dietary intake, step counts, blood biomarkers, quality of life, and side effects. Data were analyzed using multivariate and univariate repeated-measures general linear models (GLM), with mean changes from baseline presented alongside 95% confidence intervals. Results: All participants significantly reduced body weight, fat mass, body fat percentage, and waist circumference. At 12 weeks, PRO reduced fat mass more than PL (−2680.7 ± 1276.7 g; p = 0.039). In PRO, android and gynoid fat percentage decreased at 6 weeks (p < 0.001; p = 0.008) and 12 weeks (p = 0.004; p < 0.001), respectively. Visceral adipose tissue mass, volume, and area were lower at 6 weeks and trended lower at 12 weeks. In PRO, bone mineral content and bone mineral area decreased at 12 weeks, while bone mineral density paradoxically increased (0.007 ± 0.003 g/cm²; p = 0.024). Conclusions: During a 12-week weight loss program, supplementation of a multi-strain L. fermentum probiotic significantly reduced body fat and central adiposity. Full article

Social media has become a significant factor in unhealthy consumption behaviors among adolescents, given the prevalent use of mobile phones and the internet. This study investigates the association between social media exposure and adolescents’ sugar-sweetened beverage (SSB) preferences, as well as their consumption behavior. This study included 1517 adolescents across Henan Province, China, in 2025. We employ a mixed logit model, a hurdle model, and an Ordinary Least Squares (OLS) model to assess the association of social media exposure with adolescents’ SSB preferences and consumption behavior. The findings indicate that social media exposure is positively associated with adolescents’ overall preference for SSB products. Specifically, it is associated with a higher preference for carbonated drinks and beverages containing sweeteners and a lower preference for juice. Furthermore, the association between social media exposure and SSB preferences differs between urban and rural adolescents. Rural adolescents exposed to social media tend to show a lower willingness to forgo SSB options, whereas urban adolescents exposed to social media tend to show less sensitivity to price attributes. Additionally, social media exposure is positively associated with both the selection and consumption of SSBs among adolescents, which in turn are linked to health concerns such as overweight and obesity. Full article

Background/Objectives: Obesity is an increasing challenge among people living with HIV (PLWH). This study aimed to assess the prevalence of general and abdominal obesity and its association with lifestyle in adult Romanian PLWH, providing the first national data. Methods: A single-center, cross-sectional study involved 106 adult PLWH. Eating behavior was assessed using the Rapid Eating Assessment for Participants—Short Version (REAP-S) and physical activity with the General Practice Physical Activity Questionnaire (GPPAQ), both standardized and validated. Anthropometric, clinical, and virological data were collected from medical records and direct measurement. Results: Median age was 36 years [IQR 33–42], 83.3% were male, and 73.6% lived in urban areas. Median time since HIV diagnosis was 11 years, and 60.4% had AIDS-defining illness. General obesity (BMI ≥ 30 kg/m²) occurred in 17.9%, overweight in 29.2%, and high-risk abdominal obesity in 22.6%. Physical inactivity was reported by 20.8%. Multivariable analysis showed that being moderately or physically active was the only independent predictor of abdominal obesity (OR 0.19; 95% CI, 0.07–0.51; p = 0.001). Conclusions: In this young Romanian cohort of PLWH, physical activity reduces the risk of abdominal obesity, underscoring the need to integrate such interventions into the standard of care to reduce metabolic risk associated with HIV. Full article

Background/Objectives: Glucagon-like peptide-1 receptor agonists (GLP-1 RAs), particularly semaglutide, have demonstrated efficacy for weight loss in obesity; however, up to 40% of weight lost may derive from lean body mass. The ketogenic diet independently improves insulin sensitivity and promotes fat oxidation while preserving lean tissue. This study aimed to describe changes in body composition, insulin sensitivity, and cardiometabolic markers in patients who followed a personalized ketogenic dietary protocol while receiving low-dose semaglutide over a 6-month insulin resistance reversal program. Methods: Seven analyzed adults (six female, one male) with overweight or obesity (baseline BMI 25.6–47.2 kg/m²) participated in a clinician-supervised 6-month program combining a whole-food ketogenic diet with semaglutide (≤1.0 mg/week). Body composition and fasting metabolic markers were assessed at 1, 3, and 6 months. Results: Mean total weight loss was 21.9 kg, of which a mean of 92% was attributable to BIA-estimated fat mass. Skeletal muscle mass was largely preserved as measured by BIA (mean loss 1.2 kg), and one patient gained lean tissue. Fasting insulin declined by a mean of 15.6 µIU/mL. Visceral fat decreased by a mean of 37.0%. Six of seven patients showed reductions in high-sensitivity C-reactive protein. Triglycerides decreased in six of seven patients, and HDL cholesterol increased in all seven. LDL cholesterol responses were heterogeneous. Conclusions: In this small, uncontrolled case series, combining a ketogenic diet with low-dose semaglutide was associated with substantial fat loss, apparent preservation of lean mass as measured by BIA, and improvements in insulin sensitivity and cardiometabolic markers. Because the semaglutide dose and dietary protocol were individualized to each patient’s response, the program illustrates a personalized approach to insulin resistance. These preliminary findings are hypothesis-generating and warrant confirmation in controlled prospective studies. Full article

Background: Women remain the primary caregivers globally, especially in rural, low-resource settings plagued by poverty, unemployment, low education and poor infrastructure. These factors limit caregiving capacity, heighten vulnerability and increase the risk of food insecurity in female-headed households. Objective: To establish a baseline profile of caregivers of primary school children. Methods: Phase 1 (baseline) of the study was conducted using a quantitative, exploratory cross-sectional survey design among 75 female caregivers of children aged 7–13 years in Qwa-Qwa, Free State Province. Participants were recruited using convenience sampling. Data were collected with a structured, pre-validated questionnaire on socio-demographics, alongside anthropometric measurements. Data were analysed using descriptive statistics. Results: Most participants were unemployed (73.3%) and had low educational attainment, with 86.7% having completed primary school or less. A substantial proportion of households (80.0%) reported a monthly income below R1000. Food insecurity was common, with 69.3% of caregivers reporting experiences of food shortages. Household infrastructure was limited, particularly in refuse removal services (96.0% without access). Despite these socio-economic constraints, a high prevalence of overweight and obesity (72.5%) was observed amongst the participants. Conclusions: Caregivers experience severe, overlapping socio-economic and environmental vulnerabilities alongside a high prevalence of overweight and obesity. The study highlights the need for multi-sectoral interventions focused on poverty reduction, rural infrastructure development, improved service delivery, women’s empowerment and strengthened livelihood opportunities to improve household nutrition and resilience. Full article

Obesity is an adiposity-based low-grade chronic inflammatory disease characterized by excessive fat accumulation and/or dysregulated adipose function, affecting health, quality of life, and mortality. Despite the implementation of public health strategies and individualized therapeutic interventions, obesity currently affects more than one billion people worldwide. Although the distinction between preclinical obesity (PCO) and clinical obesity (CO) has recently been conceptually established, practical tools capable of translating this distinction into clinical diagnosis are still lacking. In this study, we proposed a novel diagnostic framework in which the SF-36 Role-Physical (RP) domain functions as a screening tool to identify physical limitations associated with CO. The framework integrates anthropometric criteria (body mass index and waist circumference), organ dysfunction (presence of comorbidities), and objectively defined physical limitations based on RP domain cutoff values. To validate the framework, patients’ inflammatory profiles were evaluated. Our results demonstrated that stratification based on this functional model could identify a phenotype characterized by a distinct pro-inflammatory profile. CO patients exhibited significantly increased IL-6 and IL-17A levels compared with the PCO and overweight groups. Taken together, these findings suggest that this approach may serve as a simple, low-cost, and clinically applicable strategy to support differentiation between preclinical and clinical obesity. However, larger longitudinal and multicenter studies are needed to validate these findings. Full article

Objective: To investigate the associations between body weight status and anthropometric parameters, lipid profile, eating behavior characteristics, and physical activity levels among children in a developing country. Methods: The study included 80 children aged 7–11 years, divided into two groups: children with normal body weight (n = 40) and children with overweight or obesity classified using WHO BMI-for-age growth reference standards (overweight >+1 SD, obesity >+2 SD). BMI, waist circumference, and lipid profile (total cholesterol, LDL, HDL, triglycerides) were measured. Eating behavior characteristics and physical activity levels were assessed using standardized questionnaires. Statistical analysis included descriptive statistics, comparative tests, correlation analysis, and exploratory regression models. Results: Children with increased body weight had significantly higher BMI, waist circumference, and a more unfavorable lipid profile (p < 0.01). BMI showed a positive correlation with food enjoyment, emotional overeating, and eating speed, and a negative correlation with satiety responsiveness and food fussiness. Lower physical activity levels were associated with higher BMI and higher total cholesterol in unadjusted analyses. Conclusions: Excess body weight among children in a developing country is associated with metabolic and behavioral characteristics in this sample. Given the cross-sectional design and limited sample size, findings should be interpreted as exploratory. The findings highlight associations between body weight status, metabolic parameters, eating behavior, and physical activity, without implying causality due to the cross-sectional design. Full article

Objective: Insulin resistance is a key pathophysiological driver linking obesity and type 2 diabetes (T2D) with cardiovascular risk. Composite surrogate indices derived from routine clinical parameters, such as the Metabolic Score for Insulin Resistance (METS-IR) and the Single Point Insulin Sensitivity Estimator (SPISE), may provide a practical means of capturing multidimensional metabolic changes. Given that comparative data are limited, we aimed to evaluate the effects of sodium–glucose cotransporter-2 inhibitors (SGLT2i) and glucagon-like peptide-1 receptor agonists (GLP-1RA) on these indices in individuals with T2D and overweight or obesity. Methods: In this retrospective observational study, 100 individuals with T2D treated with either GLP-1RA (n = 54) or SGLT2i (n = 46) were evaluated over 6 months. Strict inclusion criteria ensured treatment stability without initiation or modification of concomitant pharmacotherapy. Changes in METS-IR and SPISE were assessed alongside body mass index (BMI) and glycated hemoglobin (HbA1c). Multivariable regression and exploratory analyses, including stratification by BMI and correlation analyses, were performed. Results: Both treatment groups demonstrated significant improvements in METS-IR (GLP-1RA: −3.9 ± 5.9; SGLT2i: −2.5 ± 2.6; both p < 0.001) and SPISE (GLP-1RA: +0.46 ± 0.52; SGLT2i: +0.44 ± 0.61; both p < 0.001), with no significant between-group differences. In the GLP-1RA group, changes in METS-IR correlated with changes in BMI (r = 0.48, p < 0.001) and HbA1c (r = 0.29, p = 0.030), whereas no significant correlations were observed in the SGLT2i group. Stratified analyses indicated greater reductions in METS-IR among individuals with BMI ≥30 kg/m² treated with GLP-1RA. Conclusions: Both SGLT2i and GLP-1RA improve composite surrogate markers of insulin resistance, with distinct associations with weight and glycemic changes. METS-IR and SPISE may serve as practical tools for monitoring multidimensional metabolic responses in clinical practice. Full article

Background/objective: This study determined the prevalence of dietary behaviours and examined their relationship with nutritional status among Malaysian school-based adolescents. Methods: Data from 33,523 adolescents who participated in the Adolescent Health Survey (AHS 2022) were analysed. Multiple logistic regression was employed to assess associations between dietary behaviours and nutritional status, adjusting for potential confounders. Results: Our findings demonstrated a double burden of malnutrition, with 6.8% stunting, 8.3% thinness, and 30.5% overweight/obese. High prevalence of inadequate daily intake of fruit and vegetables (FV) (83.9%) and insufficient daily dairy consumption (62.7%) was observed. Approximately one-third of adolescents reported frequent fast-food consumption (i.e., at least one day per week) (35.4%) and daily intake of carbonated soft drinks (32.4%). Daily carbonated soft drink consumption was associated with higher odds of overweight/obesity (aOR:1.11; 95% CI:1.04–1.20), highlighting the need to prioritise the public health strategies aimed at reducing sugar intake. Conversely, inadequate FV intake (aOR:0.88; 95% CI:0.81–0.95) and frequent fast-food consumption (aOR:0.87; 95% CI:0.82–0.94) were associated with lower odds of overweight/obesity, while insufficient daily dairy intake was associated with lower odds of thinness (aOR:0.83; 95% CI:0.73–0.94). These negative associations should be interpreted cautiously due to possible reverse causality and reporting bias. Conclusions: The findings highlight the importance of strengthening nutrition education and the food environment among Malaysian adolescents. Full article

Background: Obesity is increasing worldwide and remains a major contributor to cardiovascular morbidity and mortality. It is strongly associated with hypertension, dyslipidemia, diabetes mellitus, endothelial dysfunction, and chronic inflammation, all of which promote coronary artery disease and acute coronary syndrome (ACS). Despite this well-established risk profile, multiple studies have described an “obesity paradox,” suggesting that obese patients may experience better outcomes after percutaneous coronary intervention (PCI) for ACS than normal-weight individuals. Objective: This narrative review aims to discuss the pathophysiological basis of the obesity paradox and to synthesize contemporary evidence regarding the relationship between body mass index (BMI), major adverse cardiovascular events (MACE), and mortality after PCI in patients presenting with ACS. Results: Contemporary observational cohorts consistently suggest a non-linear relationship between BMI and MACE outcomes after PCI. Overweight and mildly obese patients often demonstrate lower crude mortality and fewer MACE, whereas underweight patients consistently show the poorest prognosis. However, after adjustment for age, left ventricular ejection fraction (LVEF), renal function, frailty, and nutritional status, obesity is less consistently associated with improved outcomes. Overweight status appears to be more reproducibly associated with better prognosis than obesity itself. Conclusions: The obesity paradox is likely driven less by a true protective effect of excess adiposity and more by younger age at presentation, preserved physiological reserve, lower frailty burden, and the limitations of BMI as a marker of cardiovascular risk. Underweight status emerges as the strongest predictor of adverse outcomes. Nutritional assessment and body composition should complement BMI in risk stratification after ACS. Full article

Background/Objectives: Obesity is a chronic, multifactorial condition characterized by excessive adipose tissue that adversely affects health and continues to rise worldwide. It is strongly associated with cardiometabolic abnormalities that increase the risk of adverse outcomes, including type 2 diabetes and coronary heart disease. Methods: We conducted a multicenter, clinic-based cross-sectional analysis of electronic health records from 200,022 adults aged ≥20 years, who accessed nutritional and clinical laboratory services at Salud Digna between 1 January 2022 and 31 December 2025. Nutritional status was classified as normal weight or overweight/obesity using body mass index criteria. Metabolic health was assessed using five components of the National Cholesterol Education Program Adult Treatment Panel III criteria. Individuals were defined as metabolically unhealthy if they met three or more metabolic syndrome criteria. Results: Among participants, 78.17% of males and 79.73% of females were classified as overweight or obese. Metabolic unhealthiness was observed in 50.74% of males and 55.42% of females. The prevalences of metabolically healthy normal weight, metabolically healthy overweight/obesity, metabolically unhealthy normal weight, and metabolically unhealthy overweight/obesity were 18.55%, 31.09%, 3.90%, and 44.20%, respectively. Conclusions: These findings highlight a high burden of overweight/obesity and metabolic abnormalities in a large clinic-based sample of Mexican adults. While not nationally representative, this study provides important insights into the distribution of nutritional and metabolic health profiles in individuals accessing healthcare services, supporting the need for targeted prevention, early detection, and management strategies in clinical settings. Full article