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Nevin Manimala Statistics

Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

J Med Case Rep. 2025 Jul 12;19(1):338. doi: 10.1186/s13256-025-05355-3.

ABSTRACT

BACKGROUND: Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism-hyperammonemia syndrome, results from activating mutations in the GLUD1 gene. This study aimed to describe the clinical spectrum, genetic variants, and outcomes of patients with GLUD1-related hyperinsulinism-hyperammonemia syndrome treated at a tertiary care center in Saudi Arabia.

METHODS: This retrospective case series included five patients of Saudi ethnicity diagnosed with GLUD1-associated hyperinsulinism-hyperammonemia syndrome between September and November 2023 at King Faisal Specialist Hospital and Research Centre. Clinical, biochemical, imaging, and genetic data were collected from medical records. Descriptive statistics were used to summarize the findings.

RESULTS: All five patients (four pediatric, one adult) presented with hypoglycemia, elevated insulin levels, and persistent hyperammonemia. Genetic testing confirmed GLUD1 mutations in all cases, with two patients sharing the c.1493C > T (p.Ser498Leu) variant. Diazoxide therapy effectively controlled hypoglycemia in most patients. Two patients experienced significant neurological complications, including seizures and developmental delay. One adult patient underwent pancreatectomy with improvement in hypoglycemia control but retained chronic neurological sequelae. Brain magnetic resonance imaging abnormalities and secondary genetic variants were identified in two cases.

CONCLUSION: GLUD1-related hyperinsulinism-hyperammonemia syndrome presents with a wide clinical spectrum, often with early onset and risk of neurological impairment if not promptly treated. Early diagnosis and individualized management-including genetic testing and diazoxide therapy-are essential to prevent irreversible complications. Further multicenter studies are warranted to better understand long-term outcomes in affected populations.

PMID:40652260 | DOI:10.1186/s13256-025-05355-3

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Nevin Manimala Statistics

Local approach to attributable disease burden: a case study on air pollution and mortality in Belgium

BMC Public Health. 2025 Jul 12;25(1):2439. doi: 10.1186/s12889-025-23625-z.

ABSTRACT

BACKGROUND: Burden of disease estimation and the attribution to risk factors are commonly done on national or regional scale. This research proposes a novel approach, where air pollution-related mortality in Belgium was estimated locally, and compares the results to those of the common ‘global’ approach.

METHODS: In the local approach, mortality attributable to long-term exposure to particulate matter < 2.5 μm (PM2.5) and nitrogen dioxide (NO2) is derived at the level of census tracts. Relying on a statistical concentration-response function suggests potential bias when applied to such small scale. Therefore, the local method is validated by comparing aggregated results to estimates derived with a global approach. In a sensitivity analysis, the difference between the global and local approach is compared to the impact of other methodological choices and sources of uncertainty.

RESULTS: The local method estimates (95% confidence interval) 12,276 (6,695; 17,826) deaths for PM2.5 and 7,944 (4,725; 11,181) for NO2 in Belgium. For both pollutants, these national estimates never deviate more than 2% from those obtained with the global method, and never more than 4% in the individual provinces. The sensitivity analysis demonstrates the concentration-response function as having the largest contribution to overall uncertainty, while the global-local discrepancy is slightly larger compared to the exposure uncertainty.

CONCLUSIONS: Aggregated local burden estimates prove to be accurate compared to the global approach. This means the local method shows potential for comparing areas and population groups at subnational level, where estimates can be generated in a flexible manner depending on research or policy needs.

PMID:40652258 | DOI:10.1186/s12889-025-23625-z

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Nevin Manimala Statistics

Establishment of an in vitro co-infection model of Cryptosporidium parvum and Giardia duodenalis

Parasit Vectors. 2025 Jul 12;18(1):281. doi: 10.1186/s13071-025-06926-5.

ABSTRACT

BACKGROUND: The two intestinal protozoan parasites Giardia duodenalis and Cryptosporidium parvum cause infections in a wide spectrum of vertebrates and have also been shown to infect suitable hosts simultaneously. To investigate potential effects between these parasites and on host cells, a co-infection model with IPEC-J2 cells was established.

METHODS: Optimal infection conditions and several infection doses of both parasites were tested. The effect of Giardia growth medium on IPEC-J2 cells was analyzed using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) reduction assay, while the effect of different infection doses of each parasite on host cell viability was investigated by CellTiter Blue cell viability assay. For co-infection, IPEC-J2 cells were first infected with C. parvum sporozoites, and 3.5 h later, G. duodenalis trophozoites were added. Parasite propagation during single infection and co-infection were analyzed by quantitative real-time polymerase chain reaction (qPCR) as well as immunofluorescent staining.

RESULTS: The infection with C. parvum sporozoites had no significant impact on cell viability, while G. duodenalis trophozoites affected cell culture in a dose dependent manner. The amount of gene copies of C. parvum in single and co-infected cells did not differ significantly, while statistically higher amounts of G. duodenalis gene copies in co-infected cell cultures were identified.

CONCLUSIONS: In this study, single infections and co-infections of IPEC-J2 cells with C. parvum and G. duodenalis were established and optimized over a period of 72 h.

PMID:40652254 | DOI:10.1186/s13071-025-06926-5

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Nevin Manimala Statistics

Prevalence of large-for-gestational-age and macrosomia newborns in South China, 2014-2021: a large population-based cross-sectional study

J Health Popul Nutr. 2025 Jul 12;44(1):253. doi: 10.1186/s41043-025-00959-3.

ABSTRACT

BACKGROUND: Infants categorized as large for gestational age (LGA) or with macrosomia face an increased risk of adverse pregnancy outcomes and metabolic syndrome. However, the epidemiological characteristics of LGA and macrosomia are not well understood. This study aims to describe these characteristics in detail.

METHODS: Descriptive statistical methods were employed to analyze the prevalence of large for gestational age (LGA) and macrosomia, as well as their distribution from 2014 to 2021, using data from the Guangdong Women and Children Health Information System. Retrospective data on birthweight, gender, method of delivery, maternal age, and household registration were collected. Additionally, the correlation between prevalence rates and gross domestic product (GDP) per capita was assessed.

RESULTS: The study included data from 12,992,558 singleton live births for LGA and 12,999,759 for macrosomia. The overall prevalence of LGA and macrosomia in southern China between 2014 and 2021 was 8.59% and 2.33%, respectively. During the study period, the prevalence of LGA in preterm infants (13.64%) was significantly higher than in full-term infants (8.34%), while macrosomia occurred more frequently in full-term infants (2.43%) and male infants (2.98%). The prevalence of LGA and macrosomia in winter was 9.94% and 2.59%, respectively, much higher than in other seasons. Additionally, the rate of LGA and macrosomia among infants born to mothers of advanced maternal age (≥ 35 years) was 13.52% and 3.57%, significantly higher than the 7.79% and 2.17% observed among those born to mothers younger than 35 years. Furthermore, the nine cities in the Pearl River Delta region accounted for the majority of LGA and macrosomia cases in southern China from 2014 to 2021.

CONCLUSIONS: Between 2014 and 2021, the overall birth rate in southern China showed a declining trend, while the prevalence of large for gestational age (LGA) and macrosomia increased. The liberalization of China’s birth policy, coupled with the rise in advanced maternal and paternal ages, contributed to the higher rates of LGA and macrosomia. Additionally, most LGA infants may be born at an earlier gestational age. LGA and macrosomia are more commonly observed in winter, with birth peaks occurring at the beginning of the following year.

PMID:40652252 | DOI:10.1186/s41043-025-00959-3

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Nevin Manimala Statistics

Factors associated with hospitalizations due to severe malaria in the non-endemic Brazilian region: a case-control study in the extra-Amazon Region from 2011 to 2019

Malar J. 2025 Jul 12;24(1):227. doi: 10.1186/s12936-025-05357-y.

ABSTRACT

BACKGROUND: Malaria is infectious disease with low occurrence in Brazil extra-Amazon Region. Despite this, higher lethality is observed in this region compared to the country’s endemic area. Therefore, this study aimed to analyse factors associated with malaria hospitalizations (severe malaria) in the extra-Amazon Region, in order to prevent deaths.

METHODS: A case-control design was used, utilizing data from the Brazilian Notifiable Diseases Information System (Sinan) and hospitalization records from the Unified Health System (SIH/SUS) from 2011 to 2019. Cases comprised hospitalized malaria patients, while controls included reported malaria notifications without hospitalization. Probabilistic record linkage techniques were employed, and associations were analysed using multiple logistic regression with a 0.05 significance level.

RESULTS: The main risk factors identified were: Black or mixed-race ethnicity (OR = 1.22; 95% CI 1.04-1.43), low education (elementary school OR = 2.21; 95% CI 1.78-2.75 or high school OR = 1.72; 95% CI 1.39-2.13), infection outside the extra-Amazon Region (Amazon Region OR = 1.50; 95% CI 1.15-1.96 or abroad OR = 1.72; 95% CI 1.28-2.32), high parasite count (501 to 10,000/mm3 OR = 1.51; 95% CI 1.27-1.80, 10,001 to 100,000/mm3 OR = 1.77; 95% CI 2.87-1.96 or higher than 100,000/mm3 OR = 3.15; 95% CI 2.20-4.50) and delayed treatment (after 3-7 days symptoms onset OR = 1.74; 95% CI 1.36-2.24 or 8 days or more OR = 2.08; 95% CI 1.62-2.66). Active case detection was a protective factor (OR = 0.65; 95% CI 0.54-0.78).

CONCLUSIONS: Delayed treatment remains a key factor in the occurrence of severe malaria, leading to high parasitaemia and revealing inequalities in access to healthcare based on socioeconomic differences. Travel to the Amazon Region or other countries also poses a challenge, requiring strengthened traveller health strategies and increased surveillance awareness to promptly suspect and identify cases.

PMID:40652249 | DOI:10.1186/s12936-025-05357-y

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Nevin Manimala Statistics

Interplay of physical activity, self-rated health, and life satisfaction among large-bodied adolescents in Europe and North America: analysis using clustered binary mixed effects logit modelling

BMC Public Health. 2025 Jul 12;25(1):2437. doi: 10.1186/s12889-025-23626-y.

ABSTRACT

BACKGROUND: There is a dearth of studies focused on the impact of self-rated health on life satisfaction among large-bodied adolescents, as well as the moderating role of physical activity in this relationship. Large-bodied adolescents refers to young people (usually aged 10-19 years) whose body size falls within the overweight or obese range as defined by the World Health Organisation’s Growth Reference, based on age- and sex-specific body mass index (BMI) percentiles. This study aimed to address the gap in research by examining the association between self-rated health and life satisfaction in a diverse sample of large-bodied adolescents from 39 countries and regions in Europe and North America. The moderating role of physical activity in the association was also examined.

METHODS: The study analysed data from the Health Behaviour in School-aged Children (HBSC) survey, involving a sample of 24,839 large-bodied adolescents. Three sequential binary mixed effects logit models were fitted: the first assessing self-rated health alone, the second adjusting for multiple covariates, and the third incorporating an interaction term between physical activity and self-rated health. The analysis was performed using R Software (v4.1.2), with significance determined at a level of 0.05.

RESULTS: The results show that adolescents who rated their health as “poor” were a little more than six times (AOR = 6.32, 95%CI: 5.30-7.54, p < 0.001) as likely to report lower life satisfaction compared to those who rated their health as “excellent”. Those who rated their health as “good” had 1.71 times higher odds (AOR = 1.71, 95%CI: 1.44-2.04, p < 0.001) of reporting lower life satisfaction compared to those who rated their health as “excellent”. The analysis further indicated that physical activity plays a partial moderating role in the relationship between self-rated health and life satisfaction. Participants who considered themselves “somewhat active” reported higher life satisfaction compared to their “inactive” peers (AOR = 0.58, p = 0.031, 95% CI: 0.36-0.95).

CONCLUSIONS: The study supports the hypothesis that poorer self-rated health is associated with lower life satisfaction among large-bodied adolescents. It further suggests that increased physical activity can ‘partly’ buffer the negative effects of poor self-rated health on life satisfaction. These findings emphasise the importance of interventions promoting physical activity and positive self-care to improve general well-being in large-bodied adolescents.

PMID:40652245 | DOI:10.1186/s12889-025-23626-y

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Paternal and maternal exposures to per- and polyfluoroalkyl substances (PFAS) and birth outcomes: a multi-country cohort study

Environ Health. 2025 Jul 12;24(1):48. doi: 10.1186/s12940-025-01199-y.

ABSTRACT

BACKGROUND: Maternal prenatal exposures to per- and polyfluoroalkyl substances (PFAS) have been linked to adverse birth outcomes. However, few investigations have considered paternal PFAS exposure. We estimated the parent-specific associations of prenatal PFAS exposures with adverse birth outcomes.

METHODS: This study included 498 couples from the INUENDO cohort recruited at antenatal care visits in Greenland, Poland, and Ukraine during 2002-2004. We measured five major types of PFAS in parental serum during pregnancy. We analyzed three birth outcomes ascertained from medical records, including gestational age, birth weight, and birth length. We used weighted least squares linear regression to evaluate parent-specific associations of serum PFAS with the birth outcomes, adjusting for parental co-exposures and covariates. We also used quantile g-computation for mixture modeling of the birth outcomes of paternal and/or maternal exposures to multiple PFAS.

RESULTS: No associations were found between maternal and paternal PFAS exposures and gestational age. However, after adjusting for paternal PFOA, a higher level of maternal serum perfluorooctanoate (PFOA) was linked to a tendency towards lower birth weight and shorter birth length. Paternal exposure to several PFAS was also associated with a tendency for shorter birth length, but the estimated effect sizes were small. We found no joint exposure effects in the mixture analyses.

CONCLUSIONS: While the evidence was inconclusive, maternal PFOA and paternal PFAS exposures seemed to be associated with lower offspring birth weight and shorter birth length, respectively. Parent-specific effects of PFAS exposures on offspring growth and development warrant further research.

PMID:40652244 | DOI:10.1186/s12940-025-01199-y

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Nevin Manimala Statistics

Impact of vitamin D supplementation on disease activity and pain management in rheumatoid arthritis: a randomized double-blinded controlled study

BMC Rheumatol. 2025 Jul 11;9(1):87. doi: 10.1186/s41927-025-00543-6.

ABSTRACT

BACKGROUND: Rheumatoid arthritis (RA) is a progressive autoimmune disease. During complex therapy, vitamin D supplementation could have an immunomodulatory effect and improve disease activity.

AIM: The aim of this study was to investigate the effects of vitamin D supplementation on laboratory parameters and the disease course among patients with RA.

METHODS: This prospective, randomized, parallel-group, double-blind study with a follow-up period of 6 months aimed to investigate the effects of 4000 IU/day vitamin D on visual analogue scale (VAS) and disease activity score-28 (DAS-28) scores among RA patients treated at the Rheumatology Clinic of the University Clinical Centre of Kosova. The study included 100 RA patients (82 women and 18 men) who were divided into two groups: patients with vitamin D supplementation and patients without vitamin D supplementation.

RESULTS: Our results revealed no significant differences in baseline clinical or laboratory parameters between the study groups. At the beginning of the study, to ensure homogeneity between the study groups, we compared inflammatory mediators between groups. We found no significant differences in the IL6 (H statistic of 1.79 for p.180), IL17 (H statistic of 0.015 for p.902), TNF (H statistic of 1.15 for p.284), ESR (H statistic of 0.085 for p.771) or CRP (H statistic of 1.45 for p.229) levels between the two groups. After six months of supplementation therapy, the vitamin D group showed significant differences in pain reduction (VAS score, U’=2245.5; P < 0.0001) and disease activity (DAS28 score, U’=2285.5; P < 0.0001).

CONCLUSIONS: Supplementation with 4000 IU/day of vitamin D can potentially improve disease activity and pain management among RA patients after six months. However, further research is needed with a focus on longer patient follow-up periods to determine the long-term benefits of vitamin D in RA patients.

TRIAL REGISTRATION: ID NCT06716476, Date of Registration 04.12.2024.

PMID:40646666 | DOI:10.1186/s41927-025-00543-6

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Nevin Manimala Statistics

Assessment the association between foodborne disease and food safety knowledge and practices among pilgrims during Hajj in Saudi Arabia

J Health Popul Nutr. 2025 Jul 11;44(1):248. doi: 10.1186/s41043-025-00964-6.

ABSTRACT

BACKGROUND: The assessment of pilgrims’ knowledge and practices regarding food and water safety during Hajj may contribute to a reduction in foodborne disease (FBD) cases. Thus, the food safety knowledge and practices of consumers during Hajj and its association with FBD and demographic information were investigated in this study.

METHODS: A cross-sectional study was conducted among pilgrims during Hajj 2023. A self-reported questionnaire comprising 4 sections (demographic data, pilgrims’ food safety knowledge and practice, and FBD) was distributed for data collecting. Statistical tests performed including one-way ANOVA, independent samples t-tests, Chi-square, and Pearson’s correlation.

RESULTS: Out of 409 pilgrims, 58% were females and 41% were males with a mean age of 38.9 years. The overall food safety knowledge level among pilgrims was above-average, while their overall food safety practice level was below-average. Those with higher education and employed had the highest knowledge score. Male and unemployed pilgrims had the highest practice score. FBD symptoms were associated with knowledge and practice (p = 0.002 and 0.0001, respectively).

CONCLUSIONS: The findings confirmed the above-average level of pilgrims’ food safety knowledge. Nevertheless, some risky practices during Hajj were reported. FBD and some factors were significantly associated with food safety knowledge and practices. This study suggests educational interventions to enhance pilgrims’ behaviors and practices towards food before and during Hajj.

PMID:40646665 | DOI:10.1186/s41043-025-00964-6

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Nevin Manimala Statistics

Trend of malaria parasites infection in Ethiopia along an international border: a Bayesian spatio-temporal study

Infect Dis Poverty. 2025 Jul 11;14(1):66. doi: 10.1186/s40249-025-01320-w.

ABSTRACT

BACKGROUND: Malaria is a major worldwide health concern that impacts many individuals worldwide. P. falciparum is Africa’s main malaria cause. However, P. vivax share a large number in Ethiopia than any other countries in Africa, followed by the closest countries. This research aims to examine the spatiotemporal trends in the risk of malaria caused by P. falciparum and P. vivax in Ethiopia and other countries that share borders between 2011 and 2020.

METHODS: This study was carried-out in seven East African countries in 115 administration level 1 (region) settings. We used secondary data on two plasmodium parasites, P. falciparum, and P. vivax, between 2011 and 2020 from the Malaria Atlas Project. This study used a Bayesian setup with an integrated nested Laplace approximation to adopt spatiotemporal models.

RESULTS: We analyzed P. falciparum and P. vivax malaria incidence data from 2011 to 2020 in 115 regions. Between 2011 and 2020, all of South Sudan’s areas, Ethiopia’s Gambella region, and Kenya’s Homa Bay, Siaya, Busia, Kakamega, and Vihita regions were at a higher risk of contracting P. falciparum malaria than their neighbors in seven East African nations. However, the Southern Nations, nationalities, and people, as well as the Oromia, Harari, Afar, and Amhara areas in Ethiopia, and the Blue Nile in Sudan, are the regions with a higher risk of P. vivax malaria than their bordering regions. For both P. falciparum and P. vivax, the spatially coordinated main effect and the unstructured spatial effect show minimal fluctuation across and within 115 regions during the study period. Through a random walk across 115 regions, the time-structured effect of P. falciparum malaria risk shows linear increases, whereas the temporally structured effect of P. vivax shows increases from 2011 to 2014 and decreases from 2017 to 2020.

CONCLUSIONS: The global malaria control and eradication effort should concentrate particularly on the South Sudan and Ethiopia regions to provide more intervention control to lower the risk of malaria incidence in East African countries, as both countries have high levels of P. falciparum and P. vivax, respectively.

PMID:40646656 | DOI:10.1186/s40249-025-01320-w