Tag: nevin manimala

BMC Med Genomics. 2025 May 19;18(1):90. doi: 10.1186/s12920-025-02155-y.

ABSTRACT

BACKGROUND: Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation spectrum of 17p13.3 microdeletions ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome, while 17p13.3 microduplications result in autism, learning disabilities, microcephaly and other brain malformations. This study aims to provide a more comprehensive delineation of the clinical and genetic characteristics associated with 17p13.3 alterations.

METHODS: We retrospectively analyzed the next-generation sequencing (NGS) data of more than 40 thousand patients from January 2016 to December 2021 and identified 38 pediatric patients with copy-number variations (CNVs) or single-nucleotide variations (SNVs) in 17p13.3 region. Published patients with CNVs in the 17p13.3 region were also collected and we performed a Chi-square test to compare the phenotype spectrum of microdeletions and microduplications.

RESULTS: Among the 27 CNV patients, 20 patients with microdeletions and 7 patients with microduplications were found. PAFAH1B1 was the most frequently deleted gene and CRK was the most frequently duplicated gene. Affected genes in 11 SNV patients included PAFAH1B1 and PRPF8. Developmental delay was the most common abnormality detected in the 38 patients (29/38, 76.3%). Of note, Case 10 presented omphalocele and Case 23 presented scoliosis, webbed neck and bone cyst, all of which were unusual variant phenotypes in this region. The Chi-square test revealed that epilepsy, lissencephaly and short stature were statistically significant with microdeletions, while behavioral abnormalities and hand and foot abnormalities were significant with microduplications (p < 0.01).

CONCLUSIONS: While PAFAH1B1, YWHAE and CRK are associated with major phenotypes of 17p13.3, RTN4RL1 may be involved in white matter changes and HIC1 might contribute to the occurrence of omphalocele. This study provided a comprehensive understanding of genetic information and phenotype spectrum of the 17p13.3 region.

PMID:40390087 | DOI:10.1186/s12920-025-02155-y

World J Emerg Surg. 2025 May 19;20(1):41. doi: 10.1186/s13017-025-00617-3.

ABSTRACT

INTRODUCTION: Acute gastric volvulus (AGV), is an uncommon complication of large paraesophageal hernias (PEH), resulting in closed-loop obstruction that may lead to incarceration and strangulation. The aim of this study was to summarize the evidence on clinical characteristics, surgical treatment, postoperative complications (POC), recurrence, and 30-day mortality (30DM), in patients undergoing surgery for AGV secondary to PEH.

METHODS: A systematic review including studies on AGV secondary to PEH was conducted. Searches were performed in WoS, Embase, Medline, Scopus, BIREME-BV and SciELO. Primary outcomes included POC, 30DM and recurrence. Secondary outcomes comprised publication date, study origin and design, number of patients, volvulus type, hospital stay length, treatments; and methodological quality (MQ) of studies assessed using MInCir-T and MInCir-Pr₂ scales. Descriptive statistics, weighted averages (WA), least squares logistic regression for comparisons, and meta-analysis of POC prevalence and HM were applied.

RESULTS: Of 1049 studies 171 met selection criteria, encompassing 15,178 patients. The WA age of patients was 75.3 ± 13.9 years, with 51.3% female. Most studies originated from USA (31.6%), with 52.6% published in the last decade. The WA of hospital stay was 7.9 ± 5.3 days. Among patients, 32.0% experienced POC, 7.6% required reinterventions and HM was 5.7%. MQ scores averaged 8.9 ± 2.3 (MInCir-T) and 13.4 ± 5.4 (MInCir-Pr₂). When comparing 1990-2014 and 2015-2024 periods, there were significant differences in age, reinterventions, readmissions and recurrence rates.

CONCLUSIONS: Despite surgical and resuscitative advancements, AGV prognosis remains poor, with high POC rates, prolonged hospitalization and significant 30DM. These findings emphasize the importance of early diagnosis and timely intervention for acute PEH to improve surgical outcomes.

PMID:40390075 | DOI:10.1186/s13017-025-00617-3

Radiat Oncol. 2025 May 19;20(1):79. doi: 10.1186/s13014-025-02662-3.

ABSTRACT

BACKGROUND: Primary small cell carcinoma of the esophagus (SCCE) is an aggressive carcinoma with a rare incidence. Most patients were diagnosed with stage III-IV and have a poor prognosis. The poor therapeutic outcomes of SCCE reveal the need for more rational therapies.

METHODS: We retrospectively reviewed 15,463 patients with esophageal carcinoma from January 2015 to December 2020. 235 (1.52%) patients were pathologically diagnosed with primary SCCE. Clinical characteristics and treatment information were extracted from medical records. All statistical analyses were performed with the SPSS software. Patients were divided into radiotherapy (RT) group and non-RT group. The chi-square test was conducted to analyze the difference in baseline characteristics and propensity score matching (PSM) was used to balance the patient characteristics. Univariate and multivariate analysis was used to identify independent prognostic factors and calculated the estimated hazard ratio (HR) and 95% confidence interval (CI). The Kaplan-Meier method was used to draw survival curves, calculate the median overall survival (OS), and compare prognosis between groups with the log-rank p test. The two-tailed p value less than 0.05 indicated a significant difference.

RESULTS: The median OS was 15.2 months (range:13.4-17.1 months). The addition of RT improved median OS from 14.3 months to 16.5 months, but the difference was not statistically significant (p = 0.657). After PSM, the median OS of the RT group was longer than the non-RT group (16.5 months vs. 11.5 months, p < 0.001). Multivariate analysis identified RT (HR: 0.711, 95%CI: 0.533-0.949, p = 0.020), surgery (HR: 0.490, 95%CI: 0.365-0.660, p < 0.001), and smoking history (HR: 1.335, 95%CI: 1.010-1.765, p = 0.042) as independent prognostic factors. Subgroup analysis showed that RT was not a prognostic factor in patients with surgery (p = 0.450), but could significantly improve OS in patients without surgery (HR: 0.585, 95%CI: 0.415-0.824, p = 0.002). Both middle and lower thoracic SCCE patients could benefit from the addition of RT. RT could improve OS regardless of Ki67 expression level. Subgroup analyses also indicated that stage IV, age ≥ 60, no smoking history, pure SCCE, Syn-positive, CgA-positive, CD56-positive patients could benefit from RT.

CONCLUSIONS: SCCE patients could benefit from RT, especially those without surgery. Further studies are required for confirmation of the conclusion.

PMID:40390071 | DOI:10.1186/s13014-025-02662-3

J Eat Disord. 2025 May 19;13(1):86. doi: 10.1186/s40337-025-01282-2.

ABSTRACT

OBJECTIVE: This study aimed to evaluate the dynamics of the neutrophil-to-lymphocyte ratio (NLR) during the initial hospitalization of patients with eating disorders (EDs) and to assess its potential as a biomarker for monitoring disease severity and treatment response.

METHODS: A retrospective chart review was conducted with 55 patients aged ≤ 16 years diagnosed with anorexia nervosa or avoidant/restrictive food intake disorder and admitted to Jichi Medical University Hospital between 2015 and 2021. Sociodemographic and clinical characteristics including sex, age, rate of weight gain, percentage of ideal body weight (%IBW), tube feeding treatment, and NLR were obtained. Statistical analyses used a mixed model for repeated measures to assess NLR changes regarding %IBW and other clinical factors.

RESULTS: The NLR at admission was lower in the malnourished state but increased with weight recovery. MMRM revealed that tube feeding treatment (β = 0.538) and restoration of %IBW (β = 0.029) significantly predicted an increase in the NLR. The interaction between tube feeding and the quadratic term of %IBW was also significant, indicating distinct patterns of NLR changes: without tube feeding, NLR increased linearly with weight recovery, whereas with tube feeding, NLR exhibited a non-linear, upward-convex parabolic trend.

DISCUSSION: These findings suggest that NLR may offer an objective recovery marker less influenced by patient self-report. Monitoring NLR before and after tube feeding may help distinguish true physiological recovery from transient stress responses, providing complementary information to conventional assessments. Further research is warranted to establish its clinical relevance.

PMID:40390065 | DOI:10.1186/s40337-025-01282-2

Trials. 2025 May 19;26(1):163. doi: 10.1186/s13063-025-08862-2.

ABSTRACT

BACKGROUND: Uncontrolled hypertension is the leading cause of cardiovascular and cerebrovascular diseases in Ethiopia. Early detection and referral of hypertensive patients for clinical care is critical for initiating lifestyle changes and antihypertensive medications. This study aimed to evaluate the effects of health extension workers led home-based multicomponent intervention on linkage to hypertension care in patients with hypertension in rural districts of northwest Ethiopia.

METHODS: A parallel group, cluster randomized controlled trial was conducted in 20 rural communities. A total of 456 (228 in the intervention and 228 in the control clusters) participants were enrolled and followed for nine months. Participants in the intervention clusters received the interventions (home health education, behavioral and medication adherence counseling, and referral to nearby health facility) four times every other month for 40-60 min. The primary outcome was clinical linkage for hypertension care and the secondary outcome was initiation of antihypertensive treatment. Generalized estimating equation was used to evaluate the intervention’s effect using an intention-to-treat approach. Effect sizes of relative benefit increases, absolute benefit increases, and attributable benefit were used. All statistical analyses were two-sided with a p-value of < 0.05.

RESULTS: The overall average systolic and diastolic blood pressure at baseline were 145.81 (± 13.89) mmHg and 87.11 (± 7.42) mmHg, respectively. The proportion of linkage to hypertension care increased from 11.0% at baseline to 66.2% at 9 months in the intervention group and from 12.3 to 39.7% in the control group, with an absolute benefit increase of 27.5% (95% CI: 19.6%, 35.4%; P-value < 0.001). The attributable benefit associated with the intervention was 40.1% (95% CI 20.7%, 59.5%) which means that more than a third of linkage to hypertension care was due to the HEWs led home-based multicomponent intervention. However, it is noteworthy that only 10.3% of patients initiated antihypertensive medication.

CONCLUSIONS: In this study, health extension workers led home-based multicomponent interventions that provided home health education, behavioral counseling, and referral to a nearby health facility to improve linkage to hypertension care. A multicomponent intervention implemented on a large scale is likely to improve linkage to hypertension care and reduce hypertension-related morbidity and mortality in the country.

TRIAL REGISTRATION: PACTR202102729454417.

PMID:40390051 | DOI:10.1186/s13063-025-08862-2

BMC Health Serv Res. 2025 May 19;25(1):720. doi: 10.1186/s12913-024-11743-0.

ABSTRACT

BACKGROUND: Recently, the demand for care has risen, while in contrast, healthcare resources remain limited. These resources include health expenditure, the number of physicians, nurses, and hospital beds. Many studies have revealed that healthcare resources are one of the most critical factors contributing to a population’s health status. The healthcare system plays a key role in transforming these resources into health outcomes, which are widely used as indicators to measure population health and the performance of healthcare systems. Previous work has primarily investigated the relationship between health expenditure or the number of doctors and population health. However, the association between healthcare resources as a whole has yet to be widely examined.

METHODS: This study utilized multilevel regression analysis to explore the association between healthcare resources, healthcare systems, and population health outcomes across 25 European countries. The healthcare systems in these countries are primarily categorized into two types: Beveridge-type and Bismarck-type. In addition to regression analysis, descriptive statistics were used to analyze the allocation patterns of healthcare resources. Welch’s t-test was employed to compare the performance metrics of the Beveridge-type and Bismarck-type healthcare systems, providing a statistical basis for understanding differences in their effectiveness.

RESULTS: The regression analysis revealed positive correlations between health expenditure per capita, the number of physicians, and nurses, and life expectancy at birth, while the number of hospital beds showed a negative correlation. Conversely, infant mortality was negatively correlated with health expenditure per capita and the number of physicians and nurses, and positively correlated with the number of hospital beds. The models did not find statistical significance in the effects of healthcare system type (Beveridge-type or Bismarck-type) on life expectancy at birth or infant mortality rates. Additionally, Welch’s t-test indicated that the Beveridge-type healthcare system generally showed better performance outcomes compared to the Bismarck-type system.

CONCLUSIONS: The findings indicate that higher allocations of certain healthcare resources, such as hospital beds, are associated with poorer health outcomes, which suggests potential inefficiencies in resource utilization. Observations also show that countries using the same healthcare systems tend to have similar patterns of resource allocation, which may influence the performance of these systems. Policymakers should consider these associations when planning resource allocation and when selecting or modifying healthcare system models in their countries.

PMID:40390026 | DOI:10.1186/s12913-024-11743-0

Trials. 2025 May 19;26(1):162. doi: 10.1186/s13063-025-08863-1.

ABSTRACT

BACKGROUND: Observational evidence suggests both low and high iodine intakes in pregnancy are associated with poorer neurodevelopment in children. This raises concern that blanket recommendations for iodine supplementation in pregnancy may negatively impact child neurodevelopment in women with sufficient iodine intake from food alone.

METHODS: PoppiE (Prenatal Iodine Supplementation and Early Childhood Neurodevelopment) is a multi-centre, parallel, two-arm, clinician, researcher and participant blinded randomised controlled trial. Seven hundred fifty-four consenting pregnant women ≤ 13 weeks of gestation with an iodine intake of > 165 μg/day from food will be randomised to receive a multivitamin and mineral supplement containing 20 µg/day (intervention) or 200 µg/day (control) of iodine from enrolment until delivery. The primary outcome is the developmental quotient of infants at 24 months of age as assessed with the Cognitive Scale Score of the Bayley Scales of Infant Development, 4th Edition, to be analysed using linear regression with generalised estimating equations to account for multiple births. In this article, we comprehensively detail the planned statistical analyses of the PoppiE trial, including approaches to intercurrent events, methods for handling missing data and planned sensitivity analyses.

CONCLUSIONS: PoppiE is the first trial to examine the effect of prenatal iodine supplementation on early childhood development in women with sufficient iodine intake from food. At the time of writing (February 2025), recruitment into the trial is complete and data collection is due to conclude in July 2026. The statistical analysis plan was finalised before the database lock, which will ensure study conclusions are not subject to bias due to data-driven analyses.

TRIAL REGISTRATION: ClinicalTrials.gov NCT04586348. Registered on October 14, 2020.

PMID:40390018 | DOI:10.1186/s13063-025-08863-1

Eur J Med Res. 2025 May 19;30(1):397. doi: 10.1186/s40001-025-02653-w.

ABSTRACT

In this retrospective study, we investigated the changes in choroidal thickness (CT) using enhanced depth imaging spectral domain-optical coherence tomography (EDI-OCT) and intraocular pressure (IOP) following phacoemulsification. Twenty eyes of 18 patients who underwent phacoemulsification and intraocular lens implantation were included in this study. All patients underwent a detailed ophthalmologic examination. EDI-OCT was used to measure CT preoperatively, and postoperatively at days 3 and 10, and months 1, 3, and 6. CT was measured at the fovea and at points 1.5 mm and 3.0 mm nasal and temporal to the fovea. The data were compared using one-way analysis of variance. The correlation between the changes in the CT and IOP in all sectors was analyzed. There was statistically significant change in IOP after cataract surgery (P = 0.000). The IOP reached a minimum (10.43 ± 1.64 mmHg) at 6 months postoperatively. Postoperatively CT increased significantly at three sectors: the subfovea (P = 0.019), 1.5 mm nasal to the fovea (P = 0.003), and 3 mm nasal to the fovea (P = 0.000), and gradually thickened over time, reaching a peak (288.87 ± 67.70 µm) at 6 months postoperatively. The CT increase was negatively correlated with the decrease in IOP within 6 months after surgery (P < 0.05). This study demonstrated that after cataract surgery, the IOP decreased and the choroid thickened, lasting up to 6 months. Studying the changes in CT and IOP after cataract surgery will help deepen the understanding of fundus diseases associated with cataract surgery and will also play a guiding role in solving clinical complications.

PMID:40390014 | DOI:10.1186/s40001-025-02653-w

BMC Womens Health. 2025 May 19;25(1):235. doi: 10.1186/s12905-025-03760-w.

ABSTRACT

BACKGROUND: Intimate partner violence (IPV) remains a pervasive issue in Tanzania, impacting the physical, mental, and emotional well-being of women across the country. Despite the existence of legal frameworks aimed at protecting women’s rights, IPV persists in Tanzania. Understanding the magnitude and factors associated with IPV among women provides valuable insights that can be used to shape policies and interventions targeted at preventing and addressing IPV in the country. However, there is a paucity of evidence on the prevalence and factors associated with IPV nationwide. Therefore, this study is timely for addressing this gap in Tanzania.

METHODS: The study used a nationally representative secondary data that employed a cross-sectional design. Data for the current study were extracted from the 2022 Tanzania Demographic and Health Survey for women aged 15-49 years. A weighted sample of 4503 ever married or ever partnered women aged 15-49 years was used. The outcome variable was IPV status categorized into binary responses yes/no, while independent variables were socio-demographic and health related characteristics. Data were analysed using descriptive analysis, bivariable and multivariable logistic regression models. A threshold of p-value < 0.05 was used to determine statistically significant factor. The strength of the association was assessed using the adjusted odds ratio (aOR) along with its corresponding 95% confidence interval (CI).

RESULTS: The overall prevalence of IPV among women of reproductive age 15-49 years in Tanzania was 38.9%. The multivariable logistic regression results revealed that women who are working (aOR = 1.4,95%CI:1.2,1.7) and those whose husband/partner drinks alcohol (aOR = 2.9,95%CI: 2.4, 3.5) had higher odds of experiencing IPV compared to their counterparts. Conversely, protective factors include women’s secondary and higher education level (aOR = 0.7,95%CI:0.5,0.9) and residing in the Southern zones (aOR = 0.4,95%CI:1.5,3.9).

CONCLUSION: The prevalence of IPV among women in Tanzania remains high compared to the global average of 30%. This was mostly associated with women’s employment status, and women married/cohabiting with alcohol consumers. The government should implement community-based educational programs to raise awareness about IPV and dedicate more efforts like raising the tax on all alcoholic beverages to controlling alcohol consumption among men as a strategy to combat IPV in society.

PMID:40390013 | DOI:10.1186/s12905-025-03760-w

BMC Health Serv Res. 2025 May 19;25(1):718. doi: 10.1186/s12913-025-12903-6.

ABSTRACT

INTRODUCTION: Sleep quality is a crucial aspect that can affect the health, job performance, and safety outcomes of operating room employees. However, the social and work-environmental factors that predict sleep quality remain unclear. This study aimed to determine the role of social relational quality and ethical climate as the predictors of sleep quality in employees of the operating room using hierarchical linear regression analysis.

METHODS: This cross-sectional and multi-center study was conducted on 232 operating room employees. Data were collected using the social relational quality scale, Hospital Ethical Climate Survey, and Pittsburgh Sleep Quality Index. Pearson’s correlation coefficient, ANOVA, t-test, and hierarchical multiple linear regression were used to analyze the data.

RESULTS: The mean scores of social relational quality and standardized ethical climate were 54.80(SD = 6.35) and 3.40(SD = 0.68) in the operating room employees. The mean score of sleep quality was 6.70(SD = 3.66) which was in the poor range. The last step of regression analysis showed that profession (β=-0.22, p = .02) and social relational quality (β=-0.20, p = .03) had a significant proportion of the variance of sleep quality. Based on the model, work experience, profession, social relational quality, and ethical climate accounted for 15% of the changes in sleep quality in the operating room employees.

DISCUSSION: This study indicated that more than half of the operating room employees reported poor sleep quality. Moreover, profession and social relational quality were the predictors of sleep quality. Conducting interventions to improve social relational quality might enhance the sleep quality of operating room employees.

PMID:40390009 | DOI:10.1186/s12913-025-12903-6