Cornelia de Lange syndrome is a rare congenital disorder marked by considerable clinical variability, including intellectual disability, growth retardation, distinctive facial features, limb abnormalities, and multisystem involvement. The condition is primarily linked to mutations in genes encoding components of the cohesin complex that are essential for chromosomal stability and gene regulation. We report a case of a mild type of Cornelia de Lange syndrome caused by a de novo mutation in an Iranian family.

We investigated a 19-year-old Iranian male individual presenting with developmental delay, borderline intellectual disability, dysmorphic facial features, and multisystem involvement. Whole-exome sequencing was performed to identify causative variants. A de novo heterozygous variant affecting the start codon of NIPBL (NM_133433.4:c.2T>A; NP_597677.2:p.Met1Lys) was identified. This variant was absent from population databases and predicted to disrupt normal translation initiation. Sanger sequencing and co-segregation analysis confirmed the genetic findings. In silico tools and population databases were utilized to assess variant pathogenicity. Clinically, the patient exhibited classical Cornelia de Lange syndrome features with relatively mild intellectual impairment compared with typical loss-of-function cases, consistent with the hypothesis of potential use of alternative start sites.

This case shows a known NIPBL start-loss variant's correlation with a relatively mild clinical presentation and offers more genotype-phenotype evidence for it. This finding suggests a possible role for downstream translation initiation as a modifier of disease severity, although further functional validation is required. Comprehensive genetic analysis remains essential for accurate diagnosis, prognosis, and counseling in patients with Cornelia de Lange syndrome.

Despite decades of mass Ivermectin distribution, onchocerciasis transmission persists in Cameroon. Comorbidities with non-communicable diseases (NCDs) and gaps in treatment uptake may contribute to the sustained transmission of this disease. This study assessed the prevalence of onchocerciasis, its comorbidity with selected NCDs, and determinants of continued transmission in Bafut Health District, Cameroon.

A community-based cross-sectional study with health facility-based recruitment was conducted from June to July 2024 among 282 adults aged 30 years or older who had resided in Bafut for at least 5 years. Data on sociodemographic, NCD history, onchocerciasis knowledge, and ivermectin uptake were collected using a structured questionnaire. Laboratory investigations included skin snip microscopy, nodule palpation, blood pressure measurement, and venous blood tests for diabetes and rheumatoid arthritis. The relationship between categorical variables was analysed using the Chi-square test and logistic regression at the 5% significance level.

Of the 282 participants examined, 43 (15.2%) had palpable nodules, 17 (6.0%) were positive on skin snip for Onchocerca volvulus, and 6 (2.1%) had both palpable nodules and positive skin snip results. Onchocerciasis infection showed significant associations with sex, age group, marital status, and educational level (p < 0.05). Hypertension (27.8%) and rheumatoid arthritis (25.9%) were the most common comorbidities among infected individuals. Ivermectin uptake was high, with 94.3% of participants reporting that they had ever taken ivermectin at least once during previous community-directed treatment with ivermectin (CDTI) rounds. In comparison, a small proportion (5.7%) declined due to illness or blurred vision. Participants with tertiary education had approximately five times higher odds of taking ivermectin compared to those with no formal education (aOR = 4.62, 95% CI: 1.18-18.12, p = 0.028). Similarly, individuals who had lived in the community for more than 10 years had five times higher odds of adhering to ivermectin treatment than recent residents (aOR = 5.03, 95% CI: 1.11-22.8, p = 0.036), primarily due to a refusal of ivermectin, mainly because of side effects. Nearly half of the participants (48.9%) demonstrated poor knowledge of onchocerciasis.

Onchocerciasis remains present in Bafut, with ongoing transmission. Infection was associated with socio-demographic and behavioral factors. Non-communicable diseases were observed; however, no causal relationship can be inferred. Strengthening ivermectin uptake and health education may improve control.

Not applicable.

Adolescence is a critical developmental period during which parenting practices interact with temperament and sociocultural context to shape mental health and adaptation. Most parenting models are derived from Western settings, with limited evidence from India.

This simultaneous mixed methods study drew on cross sectional data from the Indian Consortium on Vulnerability to Externalizing Disorders and Addictions (cVEDA) cohort, including adolescents aged 12-17 years (parent report n = 931; child report n = 836). Exploratory factor analysis was conducted on parent and child versions of the Alabama Parenting Questionnaire. Qualitative data were obtained through in-depth interviews with 31 adolescents and their parents and analysed using thematic analysis. Findings were integrated at the interpretation stage.

The original APQ structure did not replicate. Parent reports yielded three dimensions-Involvement/Positive Parenting, Poor Monitoring, and Corporal Punishment-while child reports yielded five, distinguishing father's and mother's involvement. Inconsistent disciplining did not emerge as a distinct construct. Qualitative findings indicated high involvement and behavioural and psychological control, largely driven by academic goals. Adolescents experienced these practices as both supportive and restrictive, with parental openness shaping communication. Contextual pressures, including resource constraints and urban stressors, contributed to a competency-control paradox.

Parenting of adolescents in India must be understood within its relational and sociocultural ecology. While involvement and control function as primary supports, excessive control may constrain broader competency development. Integrating parent and adolescent perspectives is essential for culturally grounded research and intervention.

Pyogenic liver abscess (PLA) is a life-threatening infection rising in East Asia, especially among patients with type 2 diabetes. Although SGLT2 inhibitors improve glycemic control and offer extraglycemic benefits, their effect on PLA risk is unknown. Using Taiwan's National Health Insurance Research Database, we conducted a nationwide retrospective cohort study of adults with T2DM. After 1:1 propensity score matching, 258,800 SGLT2i users and 258,800 non-users were included. The primary outcome was incident PLA. Incidence rates were calculated per 1,000 person-years, and adjusted hazard ratios (aHRs) with 95% confidence intervals (CIs) were estimated using multivariable Cox proportional hazards models. Additional analyses included subgroup analyses with interaction testing, a time-dependent Cox model, a competing-risks model, and a negative-control outcome analysis using fracture. During follow-up, 1,275 PLA events were identified. The incidence rate of PLA was 0.75 per 1,000 person-years in SGLT2i users and 0.83 per 1,000 person-years in non-users. In the primary multivariable Cox model, SGLT2i use was associated with a lower risk of PLA compared with nonuse (aHR, 0.88; 95% CI, 0.79-0.99). This inverse association was generally consistent across most subgroups. In the time-dependent analysis, SGLT2i use remained associated with a lower PLA risk (aHR, 0.72; 95% CI, 0.64-0.81). SGLT2i therapy was independently associated with reduced PLA risk in T2DM patients, particularly with prolonged exposure. These findings suggest an inverse association between SGLT2i use and the risk of pyogenic liver abscess in patients with T2DM.

Dyslipidemia remains a major modifiable contributor to China's cardiovascular disease (CVD) burden, yet large-scale evidence on risk-stratified management gaps is lacking.

In this nationwide study across 1,785 hospitals in 28 Chinese provinces, 604,250 outpatients with dyslipidemia were enrolled. We analyzed lipid levels, quantified control rate among treated population and rates of requiring lipid-lowering therapy (LLT) among untreated population across regions, socioeconomic status, and demographic groups.

Total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels were higher among females, middle-aged individuals, and individuals with obesity. LDL-C levels were also higher among urban residents, while TC showed no significant urban-rural difference. Triglyceride (TG) levels were higher in males, middle-aged individuals, individuals with obesity, and rural residents. Among treated population, LDL-C/non-HDL-C control rates reached 95% in low-risk, 70-90% in moderate-risk, 40-50% in high-risk, and 5-15% in very-high-risk groups. Among untreated population, rates of requiring LLT reached about 20% in the low-risk group and over 70% in moderate- and high-risk groups. After adjusting for covariates, males, older individuals, smokers, patients with hypertension or type 2 diabetes mellitus, as well as those in rural and low-gross-domestic-product areas were associated with lower lipid control rates and higher treatment needs.

Our findings highlight the urgent need for risk-stratified lipid management in primary care, improved access to LLT, and policies addressing regional and socioeconomic disparities to enhance lipid control and reduce CVD burden in China. Lessons from China can inform global strategies to improve lipid management and reduce the CVD burden.

Trivalent chromium is an essential trace element involved in carbohydrate and lipid metabolism. The widespread global prevalence of metabolic syndrome and its close association with cardiovascular diseases and type 2 diabetes mellitus have increased scientific interest in the potential metabolic effects of chromium. However, currently available evidence regarding its clinical significance remains inconsistent.

This narrative review describes the role of trivalent chromium in the context of metabolic syndrome. A systematic literature search was conducted in the Scopus and Web of Science databases for studies published between 2015 and 2025. The review included randomized controlled trials, observational studies, experimental studies, systematic reviews, and meta-analyses that investigated chromium intake, supplementation, or the association between chromium levels and components of metabolic syndrome.

The reviewed studies reported heterogeneous findings regarding the effects of trivalent chromium on components of metabolic syndrome. While some studies demonstrated improvements in glucose metabolism, insulin sensitivity, and lipid profiles, other studies reported no clear or statistically significant effects. The inconsistency of results has been attributed to differences in study design, studied populations, types and dosages of chromium supplementation, and duration of interventions.

The lack of uniform research methodologies, limited sample sizes, and the absence of standardized protocols for chromium supplementation hinder the comparability of results. In addition, the heterogeneity of the studied populations limits the reliability of the available data.

Available evidence does not support the widespread clinical use of trivalent chromium. Therefore, further large-scale studies are required to determine its efficacy and safety.

Chronic kidney disease (CKD) attributable to type 2 diabetes mellitus (T2DM) represents a growing global health concern. However, comprehensive long-term epidemiological trends and projections, stratified by sociodemographic and geographic variables, remain inadequately delineated.

To evaluate the global, regional, and national burden of CKD due to T2DM from 1990 to 2021, and to forecast its trends through 2035 using Bayesian age-period-cohort (BAPC) modeling.

This population-based observational study used data from the Global Burden of Disease Study 2021 (GBD 2021), which includes 204 countries and territories across five sociodemographic index (SDI) quintiles and 21 GBD regions. The study covers the period 1990-2021 with projections to 2035.

Diagnosis of T2DM mellitus as an underlying cause for CKD.

Incident and prevalent cases, mortality, and disability-adjusted life-years (DALYs) attributable to T2DM-related CKD. Age-standardized incidence (ASIR), prevalence (ASPR), mortality (ASDR), and DALY (ASR) rates were computed, alongside estimated annual percentage changes (EAPC).

From 1990 to 2021, the global number of incident CKD cases due to T2DM increased by 167.2%, while the ASIR rose by 21.0% (EAPC: 0.61). Prevalent cases nearly doubled (+85.1%), although ASPR declined slightly (-5.1%, EAPC: -0.17). Deaths surged by 222.6%, and ASDR increased by 37.8% (EAPC: 1.17). DALYs rose by 173.6%, with a 24.0% increase in ASR (EAPC: 0.81). Males and older adults consistently exhibited higher burden across all indicators. Low- and middle-SDI nations experienced the most pronounced burden growth, yet high-SDI regions also registered substantial increases in mortality and DALYs.

Projections to 2035 suggest a continued escalation, with incident cases exceeding 2.6 million and deaths surpassing 700,000 annually by mid-century. These findings highlight the importance of targeted prevention, early detection, and improved management strategies, particularly in high-growth regions and vulnerable populations.

To evaluate the association between myo-inositol supplementation and the risk of fetal macrosomia in pregnant women with a history of large-for-gestational-age infants, and to assess its relationship with gestational weight gain in women with overweight or obesity.

A prospective observational study was conducted in antenatal clinics and the Almaty Center for Perinatology and Pediatric Cardiac Surgery. Myo-inositol supplementation was recommended as part of routine clinical practice and taken daily for up to 6 months. Participants attended four visits: baseline (<12 weeks), 20 weeks, 30 weeks, and delivery. The main group included women with a BMI of 25-35 kg/m² and a history of delivering infants weighing >4000 g. The comparison group was formed using a clinical risk scoring system to improve group comparability.

Gestational weight gain was significantly lower in the myo-inositol group (11.82 kg) compared with the comparison group (17.85 kg; p<0.001). The incidence of macrosomia was lower in women who used myo-inositol supplementation (5.9% vs. 55.9%). Mean neonatal birth weight was also lower in the supplementation group (3658.9 g vs. 3972.5 g), with a mean difference of 313.6 g (95% CI 173.5-453.8). Emergency cesarean delivery occurred less frequently in the supplementation group (3.9% vs. 15.7%), indicating improved obstetric outcomes.

In this high-risk cohort, the use of myo-inositol supplementation was associated with lower gestational weight gain and a lower incidence of fetal macrosomia. These findings suggest a potential beneficial role of myo-inositol in the prevention of excessive fetal growth; however, randomized controlled trials are needed to confirm causality.

To examine associations between physical activity (PA) characteristics and psychosocial outcomes - quality of life (QoL) and fear of hypoglycemia (FH) - in children, adolescents, and young adults with type 1 diabetes (T1D).

In this cross-sectional study, 100 insulin pump-treated outpatients T1D completed 7-day PA logs capturing timing, type, intensity, and volume. QoL and FH were assessed using age-appropriate validated instruments. General linear models evaluated associations between PA characteristics and psychosocial outcomes, accounting for age group and, in sensitivity analyses, sex and HbA1c.

In pooled analyses (N = 82 complete cases), age group was significantly associated with both QoL (p = 0.037) and FH (p < 0.001), with a large effect size observed for FH. In sensitivity analyses adjusting for sex and HbA1c, the age-group effect on FH remained robust, whereas associations with QoL were attenuated. Exercise timing was associated with FH (p = 0.047), with higher adjusted FH scores observed among individuals reporting evening exercise. However, pairwise comparisons were not significant after correction. No significant AgeGroup×Timing interactions were detected. Preferred exercise type and intensity were not independently associated with psychosocial outcomes. In sensitivity analyses adjusted for sex and HbA1c (N = 62), the age-group effect on FH remained robust, whereas timing showed borderline significance.

Developmental stage appears to be a major determinant of fear of hypoglycemia in youths with T1D. Exercise timing may contribute modestly to perceived hypoglycemia risk, particularly for evening activity, although findings were attenuated after adjustment. These cross-sectional associations highlight the importance of developmentally tailored exercise counselling, while longitudinal studies are needed to clarify directionality.

To compare the elastosonographic changes of the tibial nerve (TN) and Achilles tendon (AT) in patients with type 2 diabetes mellitus (T2DM) and explore their relationship and respective relevant factors.

This case-control study enrolled 165 subjects, comprising 126 patients with T2DM and 39 healthy controls matched for age and gender. The patients were further divided into those with and without diabetic peripheral neuropathy (PN-DM and NPN-DM groups). Clinical and laboratory data were collected. Conventional ultrasound and elastography were performed to assess the changes in the morphology and elasticity of the bilateral TN and AT. Sonographic features were compared across the three groups, relevant factors affecting the stiffness of TN and AT were analyzed, respectively.

Diabetic patients exhibited significantly higher levels of HbA1C and a higher rate of smoking than healthy controls (P < 0.01 and P = 0.02, respectively). Their levels of body mass index (BMI) and total cholesterol have a significant difference between the NPN-DM group and healthy controls (both P = 0.02). The incidence of other microvascular complications in the NPN-DM group was significantly lower among diabetic patients (P = 0.04). Compared with healthy controls, the cross-sectional area (CSA) and transverse diameter of TN in diabetic patients were significantly larger (both P < 0.01), and CSA and anteroposterior diameter of AT were notably greater (P = 0.02 and P < 0.01). Besides, the stiffness of TN in the longitudinal section was significantly higher (P < 0.01), and the stiffness of AT in the cross-section was remarkably lower (P < 0.01). There was no significant difference in the morphology or elastography of TN or AT between NPN-DM and PN-DM groups. Furthermore, the stiffness of TN was not linearly related to that of AT, but independently correlated with age, HbA1C, and other microvascular complications (P < 0.05). The stiffness of AT was only independent of age (P < 0.01).

The size of both TN and AT in diabetic patients was significantly larger. The stiffness of TN increased, and that of AT decreased; however, these changes were independent of each other.

Not applicable.