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Nevin Manimala Statistics

Loss of Y chromosome and its implications in male amyotrophic lateral sclerosis: insights from the UK Biobank

BMC Med. 2025 Dec 24. doi: 10.1186/s12916-025-04594-x. Online ahead of print.

ABSTRACT

BACKGROUND: Amyotrophic lateral sclerosis (ALS) shows a male predominance, yet the underlying mechanism remains unclear. Although the loss of Y chromosome (LOY) in peripheral blood – a male-specific genetic alteration – has been implicated in certain neurodegenerative disorders (NDDs), its association with ALS in men remains unexplored and has not been explored.

METHODS: We focused on men in the UK Biobank to investigate whether LOY influences the risk and prognosis of ALS. Initially, the LOY level for each male participant was determined using sequencing data. Subsequently, Cox proportional hazards (Cox PH) model analysis was used to assess LOY-associated risk of ALS; thirdly, piecewise linear regression, Kaplan-Meier, and Cox PH analysis assessed LOY’s associations with ALS age at onset (AAO) and survival. Fourthly, multiple analytical methods were implemented to explore the relationship between LOY and ALS indicators, including plasma GFAP (glial fibrillary acidic protein) and NfL (neurofilament light chain). Finally, sensitivity analysis was carried out.

RESULTS: Our final cohort consisted of 158,953 male participants, with a mean follow-up of 11.7 years. Among them, 297 individuals developed ALS. After adjusted multiple confounding factors, including C9orf72 hexanucleotide repeat expansion (HRE), male participants with LOY exhibited an elevated risk of developing ALS (HR [95% CI]: 1.619 [1.059-2.475], p = 0.026). LOY carrier may be more likely to be associated with a later AAO and shorter survival; however, this association did not reach statistical significance in multivariate models. Additionally, our findings revealed that LOY was significantly associated with elevated plasma NfL levels (p = 0.004). Moreover, the median Log2 R ratios of Y chromosome (mLRRY value) exhibited a modest inverse correlation with plasma GFAP levels (Pearson’s r = – 0.059). Nevertheless, LOY did not exert an influence on the longitudinal trends of NfL and GFAP and was not clearly associated with C9orf72 HRE status.

CONCLUSIONS: Our results indicate that LOY makes a potential contribution to the risk of ALS and the elevation of plasma NfL levels. While LOY’s impact on ALS AAO and survival requires further validation, these findings identify it as a promising sex‑specific therapeutic target and support its potential for stratifying male ALS patients toward personalized treatments.

PMID:41437053 | DOI:10.1186/s12916-025-04594-x

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Changes of physician-patient communication skills among general practitioners after intervention of targeted SEGUE training

BMC Med Educ. 2025 Dec 23. doi: 10.1186/s12909-025-08476-x. Online ahead of print.

ABSTRACT

BACKGROUND: Studies have shown that physician-patient communication is crucial in healthcare. This study investigated the level of physician-patient communication among general practitioners in a Chongqing district. Targeted training was implemented and the intervention effect of the training was analyzed.

METHODS: One hundred twenty-eight general practitioners were selected from 10 primary hospitals that had established relationships with our hospital using convenience sampling. A targeted training plan for physician-patient communication (PPC) was created based on the ‘set the stage,’ ‘elicit information,’ ‘give information,’ ‘understand the patient’s perspective,’ and ‘end the encounter-based communication’ (SEGUE) framework and was provided to the general practitioners for 3 months from July-September 2021. The targeted training included lectures, case studies, seminars, and interactive training via on-site teaching and online teaching modes. The PPC evaluation scale based on the SEGUE framework was used on-site to observe, score, and evaluate PPC skills for the 128 general practitioners before and after instituting the training plan.

RESULTS: The total SEGUE score was significantly increased by 1.0 point after training compared to that before training (95% CI: 0.90-1.10; P < 0.001). Among the five SEGUE dimensions, the increase in the ‘set the stage’ (95% CI: 0.71-0.87; P < 0.001), ‘elicit information’ (0.14; 95% CI: 0.08-0.21; P < 0.001), and ‘give information’ (95% CI: 0.03-0.12; P < 0.001) were statistically significant (P < 0.05) after training. The senior physician subgroup had the most pronounced increase in total scores (1.05; 95% CI: 0.89-1.21; P < 0.001), followed by intermediate physicians (1.04; 95% CI: 0.87-1.2; P < 0.001), and junior physicians (0.92; 95% CI: 0.73-1.12; P < 0.001). The changes in the total scores among the three subgroups were statistically significant (P < 0.001).

CONCLUSION: After a 3-month training program, a higher SEGUE value was to be observed on the level of clinical communication skill among general practitioners from community healthcare centers. It can be assumed that this is due to an effect of the program.

PMID:41437041 | DOI:10.1186/s12909-025-08476-x

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Access to Water, Sanitation, and Hygiene (WASH) practices and their associations with waterborne diseases and malnutrition in Ibrahim Kodbuur District, Hargeisa, Somaliland: a cross-sectional study

BMC Public Health. 2025 Dec 23. doi: 10.1186/s12889-025-26022-8. Online ahead of print.

ABSTRACT

BACKGROUND: In low-resource environments like Somaliland, where insufficient infrastructure leads to high rates of hunger and waterborne illnesses, access to water, sanitation, and hygiene (WASH) is crucial for health. WASH practices in Ibrahim Kodbuur District, Hargeisa, were evaluated in this study in order to find gaps, guide solutions that support Sustainable Development Goal 6, and their links to health outcomes, including child malnutrition.

METHODS: Ninety-seven households chosen through multi-stage cluster sampling participated in a cross-sectional community-based survey that was carried out between June and August 2025. Data on sociodemographic, WASH access, and health outcomes were collected using WHO-adapted questionnaires and visual assessments. Nutritional status was evaluated via mid-upper arm circumference (MUAC) for rapid screening of acute malnutrition in under-fives and BMI z-scores, as per WHO standards, to capture WASH-related vulnerabilities. Descriptive statistics, principal component analysis (PCA), and multiple linear regression (MLR) analysed associations with waterborne diseases and malnutrition.

RESULTS: Among 38.10% of families reported round-trip water collection times exceeding 15 min (indicating moderate to high access burden), 22.70% stored it exposed, and only 13.40% of households had piped water access, with 61.90% depending on communal taps and 24.70% on unprotected wells. Although 60.80% of people used boiling, sanitation was inadequate, with 77.30% disposing of liquid waste in open pits, 14.40% using septic tanks, and 15.50% using dry latrines. Handwashing facilities were available in 32%. Waterborne illnesses affected 39.20% in the past two weeks, primarily diarrhoea. Among under-fives, 53.60% had moderate wasting (MUAC yellow), 12.50% severe (red), 35.70% wasting, and 17.90% severe malnutrition (BMI z-scores). PCA revealed a dominant socioeconomic-WASH deprivation factor (eigenvalue > 1). For malnutrition, MLR found that education (p = 0.002) and water sources (p = 0.003) were predictors, while income (p < 0.001), handwashing (p < 0.001), and distance to source (p = 0.006) were predictors of illnesses. Hence, WASH practices were substantially linked to health outcomes (malnutrition and waterborne illnesses), regardless of sociodemographic but in a multifactorial setting.

CONCLUSION: Due to socioeconomic obstacles, Ibrahim Kodbuur’s subpar WASH feeds the cycles of illness and malnutrition. Evidence from analogous low-resource settings indicates that targeted interventions-such as Biosand filters (reducing diarrheal risks by 25-58%), subsidized infrastructure, and hygiene education-could substantially mitigate these cycles, fostering equitable health gains in comparable peri-urban Somaliland environments, while more extensive multi-district research is required for wider generalizability.

PMID:41437033 | DOI:10.1186/s12889-025-26022-8

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Measuring health‑ and oral health-related quality of life in secondary school pupils: a head‑to‑head psychometric comparison of CHU9D and CARIES-QC-U

BMC Oral Health. 2025 Dec 23. doi: 10.1186/s12903-025-07467-0. Online ahead of print.

ABSTRACT

OBJECTIVES: Dental caries impacts children’s health- and oral health-related quality of life. Preference-based measures (PBM) can quantify these impacts as utilities, facilitating economic evaluation of interventions. Two paediatric PBMs (one generic (CHU9D) and one condition-specific (CARIES-QC-U)) were used in the BRIGHT randomised control trial investigating the impact of a behaviour change intervention on schoolchildren’s oral health. No comparison has been made of these two instruments previously. This study aimed to compare the psychometric properties of CHU9D and CARIES-QC-U using trial data.

METHODS: Baseline trial data were assessed. Mean utility scores, missing values and floor and ceiling effects were determined for each instrument. Cronbach’s alpha was assessed to indicate internal consistency for each instrument. Correlations were explored between CARIES-QC-U and CHU9D, the dimensions within the two instruments, and between each instrument and DMFT. Effect sizes (Cohen’s d) were explored for each component of DMFT in relation to overall utility values from each instrument.

RESULTS: Baseline data from 4542 schoolchildren aged 11-13 years were analysed. Over a third of participants had obvious caries experience. Mean utility scores for CARIES-QC-U and CHU9D were 0.76 and 0.91 respectively. Missing data was low for both instruments. Floor and ceiling effects were greater for CARIES-QC-U. Internal consistency was acceptable for both instruments. Correlation between utilities of CARIES-QC-U and CHU9D was weak at 0.35. Correlation between clinical caries experience and utilities from CARIES-QC-U was negative (r=-0.09) and stronger than with CHU9D (r=-0.02). Correlations between dimensions within the instruments were weaker than anticipated. Small, statistically significant effects were seen for both instruments and the decayed (D) component of DMFT, though this was stronger with CARIES-QC-U.

CONCLUSIONS: The burden of caries was reflected in participant utility scores. Whilst both PBMs performed well psychometrically, CARIES-QC-U demonstrated greater ability to capture impacts related to dental caries, indicating better suitability for caries research than CHU9D.

PMID:41437031 | DOI:10.1186/s12903-025-07467-0

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Determinants of childhood anaemia in Nigeria: a public health perspective using quantile regression analysis

BMC Public Health. 2025 Dec 23. doi: 10.1186/s12889-025-25989-8. Online ahead of print.

NO ABSTRACT

PMID:41437028 | DOI:10.1186/s12889-025-25989-8

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Nevin Manimala Statistics

Age-dependent association between obstructive sleep apnea and self-reported history of fractures: a community-based study

BMC Public Health. 2025 Dec 23;25(1):4291. doi: 10.1186/s12889-025-25593-w.

ABSTRACT

BACKGROUND: The relationship between obstructive sleep apnea (OSA) and self-reported history of fractures among various age groups in the general population is unclear.

METHODS: Participants were recruited using a multistage probability sampling method between 2021 and 2023 in Guangdong Province, China. Sleep study was performed with a wearable type-IV monitor. OSA was defined using the oxygen desaturation index (ODI) of ≥ 5 events/h. Fracture history was self-reported according to physician diagnoses. Poor sleep quality was defined as a Pittsburgh Sleep Quality Index score > 5.

RESULTS: A total of 5,519 participants were analyzed. The mean age of participants was 52.7 years. The prevalence rates of OSA and self-reported history of fractures were 44.5% and 13%, respectively. Participants were categorized into groups based on age tertiles. In T3 group (ages 59-91), OSA was significantly associated only with self-reported previous non-traumatic fractures (OR = 3.68, 95%CI:1.79-7.57). Similar results were observed in the T2 group (ages 48-58). OSA was not associated with self-reported history of fractures in the T1 group (ages 18-47). Furthermore, participants with both OSA and poor sleep quality had a higher odds of self-reported previous traumatic fractures compared to those with OSA alone in the T3 group (OR = 1.64, 95% CI:1.02-2.65). Interactions between OSA and age, as well as between OSA and alcohol consumption, regarding self-reported history of fractures were observed (p < 0.05).

CONCLUSIONS: OSA was independently associated with self-reported previous non-traumatic fractures in the general population. The association was age-dependent and more meaningful in the elderly population.

PMID:41437004 | DOI:10.1186/s12889-025-25593-w

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Prostate cancer risk and antioxidant biomarkers: the age-dependent reversal of bilirubin’s role

BMC Urol. 2025 Dec 24. doi: 10.1186/s12894-025-02029-6. Online ahead of print.

ABSTRACT

BACKGROUND: Prostate cancer incidence increases markedly after midlife, coinciding with age-related hormonal decline and alterations in antioxidant defense mechanisms. This study investigated age-specific associations between endogenous antioxidant markers (total bilirubin, albumin, and uric acid) and prostate cancer risk.

METHODS: Data were derived from the Korean Cancer Prevention Study-II (KCPS-II), and a total of 83,371 men were included after excluding individuals with a history of cancer or missing key variables at baseline. Participants were categorized into four age groups: < 45, 45-55, > 55, and > 65 years. During a mean follow-up of 13.5 years, 705 incident cases of prostate cancer (ICD-10: C61) were identified. Hazard ratios (HRs) and 95% confidence intervals (CIs) for prostate cancer per 1-standard deviation (SD) increase in each antioxidant marker were estimated using Cox proportional hazards models. Quartile and trend analyses were also performed.

RESULTS: Total bilirubin showed a statistically significant negative association with prostate cancer risk in men aged 45-55 years (HR: 0.86, 95% CI: 0.75-0.98, p = 0.0208), while a significant positive association was observed in men over 65 years (HR: 1.21, 95% CI: 1.02-1.43, p = 0.0285). Albumin was not significantly associated with prostate cancer risk in most age groups, but a significant positive association was found in men under 45 years (HR: 1.41, 95% CI: 1.07-1.86, p = 0.0152). Uric acid showed a consistent positive association with prostate cancer risk in the overall population (HR: 1.13, 95% CI: 1.06-1.21, p = 0.0003), and in men aged < 45 years (HR: 1.15, 95% CI: 1.02-1.30, p = 0.0241), > 55 years (HR: 1.20, 95% CI: 1.08-1.32, p = 0.0005), and > 65 years (HR: 1.20, 95% CI: 1.04-1.38, p = 0.0121).

CONCLUSIONS: Total bilirubin was negatively associated with prostate cancer risk during the andropause period (ages 45-55), but this association reversed with increasing age. Uric acid consistently showed a positive association with prostate cancer risk across all age groups.

PMID:41436997 | DOI:10.1186/s12894-025-02029-6

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Undernutrition and associated factors among adult cancer patients in northwest Ethiopia: a global leadership initiative on malnutrition-based approach

BMC Cancer. 2025 Dec 23. doi: 10.1186/s12885-025-15488-9. Online ahead of print.

ABSTRACT

BACKGROUND: Undernutrition contributes to nearly half of global cancer-related deaths. In Ethiopia, previous studies using the Subjective Global Assessment (SGA) have reported an undernutrition prevalence of 30-60% among cancer patients. The Global Leadership Initiative on Malnutrition (GLIM) criteria offer a standardized, evidence-based approach by combining phenotypic and etiologic factors. However, their application and related evidence remain limited in Ethiopia, particularly in Bahir Dar City.

OBJECTIVE: To assess the prevalence of undernutrition and its associated factors among adult cancer patients receiving follow-up care at public referral hospitals in Bahir Dar City, Northwest Ethiopia, in 2024.

METHODS: An institution-based cross-sectional study was conducted among 403 cancer patients on follow-up at Felege Hiwot and Tibebe Ghion Comprehensive Specialized Hospitals from June 8 to July 8, 2024. Participants were selected using a simple random sampling technique. Data were collected via face-to-face interviews using a structured questionnaire and through chart reviews. Anthropometric measurements, dietary intake, and clinical data were used to assess undernutrition based on the GLIM criteria. Data were entered using the KoboToolbox and analyzed with SPSS version 26. Bivariable and multivariable binary logistic regression analyses were conducted to identify factors associated with undernutrition. Statistical significance was determined at a 95% confidence interval (CI) and p-value < 0.05.

RESULTS: The study included 393 participants, yielding a response rate of 97.8%. The prevalence of undernutrition among adult cancer patients was 50.3% (95% CI: 44.4%-55.5%), with 31.5% classified as severely undernourished and 18.8% as moderately undernourished. Multivariable analysis identified four factors significantly associated with undernutrition: loss of appetite (AOR = 18.21, 95% CI: 10.01-33.12), presence of chronic comorbidities (AOR = 3.86, 95% CI: 1.67-8.94), female sex (AOR = 2.17, 95% CI: 1.17-4.03), and larger tumor size, with the highest risk observed in T4 tumors (AOR = 17.98, 95% CI: 6.45-29.19).

CONCLUSION: Undernutrition was common among adult cancer patients in Bahir Dar City, with loss of appetite, female sex, tumor size, and comorbidities as significant predictors. Early application of the GLIM criteria, management of treatment-related symptoms, and targeted nutrition interventions for high-risk groups, particularly women, are recommended to improve patient outcomes.

CLINICAL TRIAL NUMBER: Not applicable.

PMID:41436992 | DOI:10.1186/s12885-025-15488-9

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16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations

BMC Pregnancy Childbirth. 2025 Dec 23;25(1):1317. doi: 10.1186/s12884-025-08467-2.

ABSTRACT

OBJECTIVES: To expand the clinical phenotype spectrum and improve the understanding of prenatal ultrasound manifestations and fetal prognosis of 16p13.11 deletion/duplication syndrome in the East Asian population.

METHODS: We conducted a comprehensive ultrasound phenotypic analysis, pedigree analysis and long-term postnatal outcome follow-up on 201 fetuses with 16p13.11 deletion/duplication, as well as on the phenotypic manifestations of 14 patients who underwent chromosomal microarray analysis between April 2013 and July 2024. Descriptive statistical analysis was used.

RESULTS: The detection rates were 0.08% and 0.18%, the frequencies of de novo occurrence were 26.9% and 14.5%, and the rates of abnormal postnatal phenotypes were 25% and 17.5% in our prenatal cohort of deletion and duplication, respectively. Overall, 28.6% of deletions and 15.9% of duplications exhibited abnormal postnatal phenotypes even if they were inherited from a phenotypically normal parent. Developmental delay was the most common clinical abnormality. Immune disorders, torticollis, concealed penis and cryptorchidism were closely related phenotypes that had previously gone unnoticed. Copy number variations extending to intervals I + II or II + III appeared to be associated with a broader range of phenotypes. Isolated choroid plexus cysts may be the most relevant ultrasound soft marker for deletion, whereas isolated thickened nuchal translucency appears to be more closely associated with duplication. Cardiovascular and urinary malformations were the most frequently detected ultrasound structural abnormalities.

CONCLUSION: The large East Asian prenatal cohort is conducive to enhancing genetic counseling for 16p13.11 deletion/duplication syndrome by facilitating a more accurate prediction of fetal prognosis and developmental potential.

PMID:41436988 | DOI:10.1186/s12884-025-08467-2

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Deviation between programmed and actual capsulotomy diameter in femtosecond laser-assisted cataract surgery: a clinical study of influencing factors and predictive modeling

BMC Ophthalmol. 2025 Dec 23. doi: 10.1186/s12886-025-04586-8. Online ahead of print.

ABSTRACT

BACKGROUND: Differences between actual and programmed capsulotomy diameter were found in femtosecond laser-assisted cataract surgery (FLACS). This study aimed to evaluate the deviation between the programmed (PDC) and actual (ADC) diameters of the capsulotomy in FLACS, identify the influencing factors, and establish a predictive model to improve the accuracy of capsulotomy size.

METHODS: This retrospective study included 47 eyes from 47 adult patients who underwent FLACS. The ADC was measured using Image Pro Plus version 6.0 based on intraoperative video images, and the diameter deviation of the capsulotomy (DDC) was calculated by subtracting the PDC from the ADC. Correlation analysis was used to assess the relationships of demographics and ocular biometrics with ADC and DDC. Multiple linear regression was conducted to develop a model for predicting ADC.

RESULTS: The mean ADC (5.99 ± 0.34 mm) was significantly greater than the PDC (5.67 ± 0.15 mm, P < 0.001) in the overall cohort. The average DDC was 0.33 ± 0.31 mm, with 63.8% of eyes exhibiting a DDC greater than 0.20 mm. Correlation analysis showed that age was significantly negatively correlated with both ADC and DDC, and this correlation remained significant after adjusting for other ocular biometrics. Stepwise multiple linear regression identified age and PDC as independent predictors for ADC, yielding the following formula: ADC = 2.531 – 0.011·Age + 0.741·PDC (F = 14.265, P < 0.001; adjusted R2 = 0.366, Durbin-Watson statistic = 2.294).

CONCLUSION: Age was identified as the most significant factor influencing DDC. The proposed regression model for ADC may aid surgeons in preoperative planning for a more accurate and individualized capsulotomy diameter.

PMID:41436985 | DOI:10.1186/s12886-025-04586-8