Tag: nevin manimala

Ital J Pediatr. 2025 May 7;51(1):134. doi: 10.1186/s13052-025-01971-3.

ABSTRACT

BACKGROUND: WITKOS is a rare neurodevelopmental disorder caused by heterozygous loss-of-function variants in the 15q24.1 – q24.2 region, includeing switch-insensitive 3 transcription regulator family member A (SIN3 A). Its incidence rate is extremely low. According to the current limited global data statistics, only a few cases occur per million population. Most cases concentrate in childhood and adolescence. During this stage, the rapid physiological changes of the body seem to be closely related to the triggering of the disease. Its characteristics include unique facial features, intellectual and motor developmental delay, and short stature. This paper reports a case of WITKOS in a 4-month-old infant caused by large-fragment copy number variation in the 15q24.1 – q24.2 region of the chromosome that encompasses the SIN3 A gene. Gene mutations lead to abnormal functions of key proteins, which subsequently disrupt the normal development and operation of multiple body systems., By summarizing its gene phenotype characteristics, it provides diagnostic and treatment ideas for clinicians to screen for developmentally deviated young children. It is expected to provide more effective treatment options for WITKOS to improve the prognosis of patients.

CASE PRESENTATION: This infant was diagnosed with WITKOS at 4 months of age. Subsequently, the manifestations included a wide forehead, a low nasal bridge, low-set ears, growth and intellectual developmental delay, low muscle tone in the limbs, and feeding difficulties. After early rehabilitation training, the language and motor abilities of this infant have been effectively improved, and currently, the infant can walk and run independently and can say short sentences independently.

CONCLUSIONS: For children with WITKOS, early diagnosis of the clinical symptoms they exhibit and rehabilitation intervention should be carried out, which can effectively improve the quality of life of the children. This report is the first case of WITKOS caused by a large – fragment deletion, further enriching the case data of WITKOS and highlighting the necessity of strengthening clinical management and monitoring.

PMID:40336075 | DOI:10.1186/s13052-025-01971-3

BMC Med. 2025 May 7;23(1):269. doi: 10.1186/s12916-025-04045-7.

ABSTRACT

BACKGROUND: Plant-based diets are gaining popularity due to their well-documented cardiometabolic benefits and environmental sustainability. However, these diets are often lower in specific micronutrients such as iodine, raising concerns about their potential impact on thyroid health. Therefore, we examined the associations between plant-based diets and the risk of hypothyroidism.

METHODS: We analysed data from the UK (United Kingdom) Biobank cohort. Multivariable Cox proportional hazards regression models were used to estimate hazard ratios (HRs) and 95% confidence intervals (95% CIs) for incident hypothyroidism across vegans, vegetarians, pescatarians, poultry-eaters, low meat-eaters, and high meat-eaters aged 40-69 years. Ancillary to this, we carried out logistic regression analyses to evaluate associations between the diet groups and prevalent hypothyroidism according to International Classification of Diseases (ICD) codes at baseline.

RESULTS: We included 466,362 individuals from the UK Biobank, of which 220,514 followed a high meat, 221,554 a low meat, 5242 a poultry-based, 10,598 a pescatarian, 8057 a vegetarian, and 397 a vegan diet. During a median SD (Standard Deviation) follow-up of 12.7 (± 3.2) years, 10,831 participants developed hypothyroidism. In multivariable Cox regression models without adjustment for body mass index (BMI), none of the diets were significantly associated with the risk of hypothyroidism. However, there was a tendency for a higher risk of hypothyroidism among vegetarians compared to people following a high meat diet (HR = 1.13, 95% CI 0.98-1.30). After controlling for BMI, a potential collider, the association for vegetarians (HR = 1.23, 95% CI 1.07-1.42) became stronger and statistically significant. Furthermore, we observed a positive association between low meat-eaters (OR = 1.05, 95% CI 1.03-1.08), poultry-eaters (OR = 1.15, 95% CI 1.04-1.28), pescatarians (OR = 1.10, 95% CI 1.01-1.19) and vegetarian (OR = 1.26, 95% CI 1.15-1.38) with hypothyroidism prevalence.

CONCLUSIONS: In the present study, we found a moderately higher risk of hypothyroidism among vegetarians, after controlling for BMI, a potential collider. This slightly higher risk of hypothyroidism among vegetarians requires further investigation, taking iodine status and thyroid hormone levels into account.

PMID:40336074 | DOI:10.1186/s12916-025-04045-7

BMC Glob Public Health. 2025 May 7;3(1):42. doi: 10.1186/s44263-025-00160-y.

ABSTRACT

BACKGROUND: The overall quantity of screen time has been associated with short sleep duration and increasingly sedentary lifestyles, leading to adiposity. The aim of this research was to explore which components of screen time usage are shared determinants of poor sleep and higher adiposity in adolescents, using data from the Teen Sleep Well Study.

METHODS: A cross-sectional study of adolescents aged 11-14 years in Fife, Scotland was conducted. Sleep was measured objectively using the Actigraph GT3X-BT and subjectively using validated questionnaires. Adiposity was assessed using body fat percentage (BF%) and obesity was measured using body mass index percentile (BMIp). Four components of screen time were addressed using questionnaires: the timing of screen time, quantity of screen time, location of screen time, and screen time addiction. Descriptive statistics and statistical tests such as Pearson correlation tables, and adjusted regression analyses were used. Mediation analyses explored wellbeing as a factor in the association between screen time and sleep and obesity.

RESULTS: Sixty-two participants (33 female/29 male, mean age 12.2 ± 1.1 years, mean BMIp 60.3 ± 32.1) completed the study. Excessive screen time pre-sleep (30 min before sleep) and post-sleep (first 30 min after waking), excessive screen time on a weekend, and screen time addiction were shared determinants of higher adiposity, a later chronotype (evening-preference) and poor sleep outcomes: poor sleep habits, increased insomnia symptoms (IS) and increased sleep onset variability. Mediation analyses confirmed that adolescent wellbeing mediated the association between pre-sleep screen time and IS (36.3%) and BF% (21.9%), post-sleep screen time and IS (37.7%) and BF% (30.4%), videogaming addiction and IS (31.9%) and BF% (34.6%), social media addiction and IS (35.0%) and BF% (17.4%), mobile phone addiction and IS (34.0%) and BF% (10.6%), weekday screen time and IS (58.1%) and BF% (39.8%), and weekend screen time and IS (51.4%) and BF% (38.0%).

CONCLUSIONS: These screen time behaviours, alongside wellbeing should be considered in multi-component health-promoting interventions aimed at improving adolescent sleep and reducing obesity risk. Future research should employ longitudinal designs to clarify the directionality of these associations and determine the effectiveness of interventions that target both screen time behaviours and wellbeing.

PMID:40336068 | DOI:10.1186/s44263-025-00160-y

Global Health. 2025 May 7;21(1):26. doi: 10.1186/s12992-025-01121-8.

ABSTRACT

BACKGROUND: Obesity is recognized as a significant health challenge in Africa, contributing to the double burden of malnutrition and elevating the risks of diabetes, heart disease, and hypertension. Existing studies on the Obesity Kuznets Curve (OKC) assessment overlook Africa’s unique socio-economic and gender-specific dynamics. In light of the claim that different socioeconomic characteristics significantly influence the prevalence of obesity in different nations, this study examines the nonlinear relationship between economic growth and each of the obesity prevalence in males, females, and both sexes, respectively, while accounting for the effects of urbanization, trade, and food production.

METHODS: The study employs a panel data design to analyse the OKC hypothesis in a multivariate non-linear framework. The study focusses on Africa, with the study units consisting of African countries analysed within the framework of regional groupings and differentiated by obesity prevalence in males, females and both sexes correspondingly. Specifically, the study utilised panel data of 45 African nations sub-panelled into Eastern, Western, Central and Southern regions during the period from 2000 to 2020. The primary outcome variable is obesity prevalence, while the key exposure variable is economic growth. The study also considers trade openness, urbanization and food production as additional covariates influencing obesity prevalence to provide a nuanced analysis. Considering the existence of residual cross-sectional dependence and heterogeneity issue in the panel data, we applied the novel Biased Comment Method of Method estimator using the dynamic fixed-effect model as the main method to ensure robust and reliable estimates. This novel approach allows the study to address unobserved heterogeneity and interdependencies across regional economies.

RESULTS: The principal findings demonstrated a distinct pattern of the OKC (non-linear relationship between the country’s economic growth and obesity) when analysing prevalence of obesity in both sexes collectively and also when considering obesity prevalence in males and females separately across the geographical panels used. The results further showed that trade openness is positively associated with obesity prevalence in males and females separately together with both sexes collectively across all regional classifications. However, the effect of urbanization, and food production on obesity prevalence in males, obesity prevalence in females and obesity prevalence in both sexes correspondingly varied across the regional classifications.

CONCLUSION: Our analysis leads to specific policy recommendations, including the development of robust, regionally tailored health policies aimed at preventing obesity across Africa. These include promoting healthy diets through subsidies on nutritious foods, regulating trade polices to limit unhealthy food imports and integrating urban planning to encourage active lifestyles. Considering the rapid economic expansion, urbanization, trade liberalization and food production in many African nation, these strategies ought to address regional and gender-specific dynamics while aligning with global development goals such as SDG 3 (good health and well-being) and SDG2 (zero hunger), to effectively mitigate the rising prevalence of obesity.

PMID:40336067 | DOI:10.1186/s12992-025-01121-8

Mob DNA. 2025 May 7;16(1):21. doi: 10.1186/s13100-025-00359-8.

ABSTRACT

Human endogenous retroviruses (HERVs) occupy 8% of the human genome. Although most HERV integrations are severely degenerated by mutations, the most recently integrated proviruses, such as members of the HERV-K HML-2 subfamily, partially retain regulatory and protein-coding capacity. The precise number of HML-2 proviral copies in the modern human population is constantly changing in literature, as new integrations are being uncovered. The first comprehensive list of HML-2 proviral loci was compiled in 2011, including a total of 91 proviruses. Since then, multiple articles published additions and modifications to that list, mainly in the form of new polymorphic proviral sites, updated chromosomal band characterizations or the correspondence of coordinates in the new version of the published human reference genome. In the present study, we systematically searched the literature for lists of HML-2 proviruses and their coordinates and cross-examined every proviral locus information, also against the human genome. We gathered all available data about all HML-2 proviral integrations identified to date and updated, corrected and refined the coordinates in both human genome assemblies currently used in research, to incorporate the whole provirus in each case. Thereby we present an exhaustive (to date) catalogue of all known HML-2 proviruses and their respective coordinates, as a powerful tool for studies aiming to decipher HERV role in health and disease, especially for high-throughput data analyses, which could lead to the discovery of links between specific HERV integrations and biological mechanisms or medical disorders.

PMID:40336055 | DOI:10.1186/s13100-025-00359-8

BMC Cancer. 2025 May 7;25(1):840. doi: 10.1186/s12885-025-14149-1.

ABSTRACT

OBJECTIVE: The objective is to systematically gather relevant research to determine and quantify the risk factors and pooled prevalence for pneumonia after a radical gastrectomy for gastric cancer.

METHODS: The reporting procedures of this meta-analysis conformed to the PRISMA 2020. Chinese Wan Fang data, Chinese National Knowledge Infrastructure (CNKI), Chinese Periodical Full-text Database (VIP), Embase, Scopus, CINAHL, Ovid MEDLINE, PubMed, Web of Science, and Cochrane Library from inception to January 20, 2024, were systematically searched for cohort or case-control studies that reported particular risk factors for pneumonia after radical gastrectomy for gastric cancer. The pooled prevalence of pneumonia was estimated alongside risk factor analysis. The quality was assessed using the Newcastle-Ottawa Scale after the chosen studies had been screened and the data retrieved. RevMan 5.4 and R 4.4.2 were the program used to perform the meta-analysis.

RESULTS: Our study included data from 20,840 individuals across 27 trials. The pooled prevalence of postoperative pneumonia was 11.0% (95% CI = 8.0% ~ 15.0%). Fifteen risk factors were statistically significant, according to pooled analyses. Several factors were identified to be strong risk factors, including smoking history (OR 2.71, 95% CI = 2.09 ~ 3.50, I² = 26%), prolonged postoperative nasogastric tube retention (OR 2.25, 95% CI = 1.36-3.72, I² = 63%), intraoperative bleeding ≥ 200 ml (OR 2.21, 95% CI = 1.15-4.24, I² = 79%), diabetes mellitus (OR 4.58, 95% CI = 1.84-11.38, I² = 96%), male gender (OR 3.56, 95% CI = 1.50-8.42, I² = 0%), total gastrectomy (OR 2.59, 95% CI = 1.83-3.66, I² = 0%), COPD (OR 4.72, 95% CI = 3.80-5.86, I² = 0%), impaired respiratory function (OR 2.72, 95% CI = 1.58-4.69, I² = 92%), D2 lymphadenectomy (OR 4.14, 95% CI = 2.29-7.49, I² = 0%), perioperative blood transfusion (OR 4.21, 95% CI = 2.51-7.06, I² = 90%), and hypertension (OR 2.21, 95% CI = 1.29-3.79, I² = 0%). Moderate risk factors included excessive surgery duration (OR 1.51, 95% CI = 1.25-1.83, I² = 90%), advanced age (OR 1.91, 95% CI = 1.42-2.58, I² = 94%), nutritional status (OR 2.62, 95% CI = 1.55-4.44, I² = 71%), and history of pulmonary disease (OR 1.61, 95% CI = 1.17-2.21, I² = 79%).

CONCLUSIONS: This study identified 15 independent risk factors significantly associated with pneumonia after radical gastrectomy for gastric cancer, with a pooled prevalence of 11.0%. These findings emphasize the importance of targeted preventive strategies, including preoperative smoking cessation, nutritional interventions, blood glucose and blood pressure control, perioperative respiratory training, minimizing nasogastric tube retention time, and optimizing perioperative blood transfusion strategies. For high-risk patients, such as the elderly, those undergoing prolonged surgeries, experiencing excessive intraoperative blood loss, undergoing total gastrectomy, or receiving open surgery, close postoperative monitoring is essential. Early recognition of pneumonia signs and timely intervention can improve patient outcomes and reduce complications.

PMID:40336054 | DOI:10.1186/s12885-025-14149-1

Reprod Biol Endocrinol. 2025 May 7;23(1):63. doi: 10.1186/s12958-025-01397-w.

ABSTRACT

BACKGROUND: Borderline ovarian tumors (BOTs) are neoplasms of low malignant potential that predominantly affect women of reproductive age. Fertility preservation through fertility-sparing surgery is widely practiced; however, concerns remain regarding the risk of tumor recurrence and the reproductive outcomes following in vitro fertilization (IVF). This study aimed to evaluate IVF/ intracytoplasmic sperm injection (ICSI) outcomes in BOTs patients post-FSS and to assess the association between ovarian stimulation parameters and tumor recurrence.

METHODS: In this retrospective cohort study conducted at Sixth Hospital of Sun Yat-sen University from May 2010 to May 2023, 65 women with a history of FSS for BOTs who underwent IVF/ICSI were identified. After propensity score matching, 61 BOTs patients were compared with 181 control patients without ovarian tumors. Key outcomes evaluated included ovarian stimulation parameters, live birth rates, neonatal outcomes and risk factors for tumor recurrence.

RESULTS: The BOTs and control groups exhibited similar outcomes regarding the number of oocytes retrieved, the quality and number of embryos, and live birth rates from the first IVF/ICSI cycles. The cumulative live birth rate over 13 years and neonatal parameters (gestational age, birth weight, and body length) were also comparable between groups. Tumor recurrence was observed in 8.62% of BOTs patients, with no significant association identified between recurrence and ovarian stimulation parameters or peak estradiol levels.

CONCLUSIONS: IVF/ICSI following fertility-sparing surgery for BOTs patients yields reproductive and neonatal outcomes comparable to those in patients without BOTs and does not increase the risk of tumor recurrence. These findings support the safety and efficacy of IVF as a fertility treatment option for BOTs patients after conservative surgery. Further prospective studies with larger cohorts are warranted to validate these results and refine ovarian stimulation strategies.

CLINICAL TRIAL NUMBER: Not applicable.

PMID:40336050 | DOI:10.1186/s12958-025-01397-w

BMC Urol. 2025 May 7;25(1):116. doi: 10.1186/s12894-025-01810-x.

ABSTRACT

INTRODUCTION: Radical prostatectomy is a key treatment for prostate cancer. However, the impact of the learning curve of the surgeon has on the pentafecta is unclear. This meta-analysis aims to determine the impact of a procedure being performed in the initial learning curve has on the surgical results.

MATERIALS AND METHODS: A systematic review of MEDLINE, Embase, Scopus, Web of Science, and Google Scholar was conducted up to March 2024, focusing on learning curves in prostatectomy. Primary outcome was biochemical recurrence rate (BCR); secondary outcomes included positive surgical margin (PSM) rate, continence, potency, operative time, blood loss, and complications (Clavien-Dindo classification). Bias was assessed using the ROBINS-I tool, and statistical analysis was done via Review Manager 5.4.

RESULTS: Sixteen studies with 21,851 patients were included. No significant difference in BCR rates was found between initial and advanced learning curves (OR1.44;95%CI0.97,2.13;p = 0.07;I²=74%). No significant difference in continence rates was also observed. (RD-0.05;95CI-0.10,0.01;p = 0.08;I²=86%). However, advanced learning curves showed lower PSM rates (OR1.61;95%CI1.19,2.17;p = 0.002;I²=88%), higher potency, less blood loss, shorter operative time, and fewer complications. Although randomized trials are unlikely in this context, further high-quality prospective studies are needed to validate these findings.

CONCLUSION: This meta-analysis highlights that achieving favorable outcomes in key pentafecta parameters-particularly potency, continence, and complication rates-increases with surgical experience. These findings emphasize the value of structured mentorship and establishing surgical volume benchmarks in training programs. Our analysis suggests that reaching a threshold of 100 cases may be necessary to consistently attain optimal functional and perioperative results.

PMID:40336044 | DOI:10.1186/s12894-025-01810-x

Clin Epigenetics. 2025 May 7;17(1):78. doi: 10.1186/s13148-025-01880-6.

ABSTRACT

BACKGROUND: Epigenetic aging estimators commonly track chronological and biological aging, quantifying its accumulation (i.e., epigenetic age acceleration) or speed (i.e., epigenetic aging pace). Their scores reflect a combination of inherent biological programming and the impact of environmental factors, which are suggested to vary at different life stages. The transition from adolescence to adulthood is an important period in this regard, marked by an increasing and, then, stabilizing epigenetic aging variance. Whether this pattern arises from environmental influences or genetic factors is still uncertain. This study delves into understanding the genetic and environmental contributions to variance in epigenetic aging across these developmental stages. Using twin modeling, we analyzed four estimators of epigenetic aging, namely Horvath Acceleration, PedBE Acceleration, GrimAge Acceleration, and DunedinPACE, based on saliva samples collected at two timepoints approximately 2.5 years apart from 976 twins of four birth cohorts (aged about 9.5, 15.5, 21.5, and 27.5 years at first and 12, 18, 24, and 30 years at second measurement occasion).

RESULTS: Half to two-thirds (50-68%) of the differences in epigenetic aging were due to unique environmental factors, indicating the role of life experiences and epigenetic drift, besides measurement error. The remaining variance was explained by genetic (Horvath Acceleration: 24%; GrimAge Acceleration: 32%; DunedinPACE: 47%) and shared environmental factors (Horvath Acceleration: 26%; PedBE Acceleration: 47%). The genetic and shared environmental factors represented the primary sources of stable differences in corresponding epigenetic aging estimators over 2.5 years. Age moderation analyses revealed that the variance due to individually unique environmental sources was smaller in younger than in older cohorts in epigenetic aging estimators trained on chronological age (Horvath Acceleration: 47-49%; PedBE Acceleration: 33-68%). The variance due to genetic contributions, in turn, potentially increased across age groups for epigenetic aging estimators trained in adult samples (Horvath Acceleration: 18-39%; GrimAge Acceleration: 24-43%; DunedinPACE: 42-57%).

CONCLUSIONS: Transition to adulthood is a period of the increasing variance in epigenetic aging. Both environmental and genetic factors contribute to this trend. The degree of environmental and genetic contributions can be partially explained by the design of epigenetic aging estimators.

PMID:40336042 | DOI:10.1186/s13148-025-01880-6

BMC Urol. 2025 May 7;25(1):115. doi: 10.1186/s12894-025-01799-3.

ABSTRACT

OBJECTIVES: Flexible ureteroscopy (FURS) is a commonly chosen technique for kidney stone treatment. The use of ureteral access sheaths (UAS) enhances both access and the procedure’s effectiveness. This study performs a systematic review and meta-analysis to assess the efficacy and safety of flexible and navigable suction UAS (FANS-UAS) versus standard UAS (S-UAS) in FURS.

METHODS: This systematic review and meta-analysis involved searching databases such as PubMed/Medline, Scopus, Embase, Cochrane, and Web of Science until October 2024. The results were categorized into two groups: FANS-UAS as the intervention and S-UAS as the control. The outcomes measured included stone-free rate (SFR), duration of lithotripsy, length of hospitalization, and incidence of complications.

FINDINGS: Eight studies were incorporated into the analysis. The findings revealed that the SFR on the first day in the intervention group was over twice that of the control group (RR = 2.12, 95% CI: 1.13-3.98, P = 0.019). Furthermore, the SFR during follow-up was 15% greater in the intervention group than in the control group (RR = 1.15, 95% CI: 1.06-1.25, P = 0.0008), with these differences being statistically significant. However, the standardized mean differences for the outcomes of duration of lithotripsy and postoperative hospitalization between the groups were minimal and not statistically significant (P > 0.05). The intervention group had 67% fewer fevers (RR = 0.33, 95% CI: 0.22-0.48, P < 0.001) and 43% fewer cases of sepsis (RR = 0.57, 95% CI: 0.23-1.39, P = 0.215) than the control group.

CONCLUSION: Use of FANS-UAS significantly improves both first-day SFR and follow-up SFR. It is superior to S-UAS in minimizing postoperative complications. Both these factors contribute to significantly improved perioperative outcomes in flexible ureteroscopy.

PMID:40336020 | DOI:10.1186/s12894-025-01799-3