Search Results (193)

Background: Given the limited research on mitochondrial diseases in our area, specifically regarding their genetic variability and diverse clinical manifestations, and considering the significant number of consanguineous marriages in our region, we aimed to investigate the clinical and molecular characteristics of patients with mitochondrial disorders in Saudi Arabia. Methods: This retrospective cross-sectional cohort study involved a chart review of patients diagnosed with mitochondrial disorders at the Ministry of National Guard Health Affairs tertiary health care centers in Saudi Arabia between 2013 and 2022. Results: The study population comprised 116 patients with a mean age of 10 years (±7 SD). Among the study cohort, 34.5% (n = 40) had died. The primary cause of death was cardiopulmonary arrest (55.0%, n = 22). The most prevalent condition was developmental delay (67.9%). Around 56.9% were diagnosed using Whole Exome Sequencing (WES), 10.3% by Whole Genome Sequencing due to negative WES, 23.3% through a single-gene approach, 7.8% were analyzed through a mitochondrial panel, and 1.7% via a gene panel. The distributions of current age and age at diagnosis were significantly different between the nuclear and mitochondrial gene types. Notably, the diagnostic delay time (time taken from symptom onset to genetic diagnosis) averaged 1.5 years for nDNA variants compared to an average of 10 years for mDNA variants. Conclusions: This study shows that gene type affects clinical characteristics, highlighting the importance of genetic studies in disease manifestation. Full article

Background: Pain is a common, often debilitating ailment that may necessitate considerable health service utilization. However, there is a need to assess the associations of pain intensity and other variables with health service utilization among United States adults who have pain. Methods: This cross-sectional database analysis made use of the Medical Expenditure Panel Survey full-year consolidated data file and included United States adults (≥18 years) who have pain. The dependent variables consisted of four health service utilization variables, which included the number of emergency room visits, inpatient discharges, office visits, and outpatient visits in 2021. The number of visits or discharges were categorized as either ≥1 or 0. The independent variable was pain intensity (extreme, quite a bit, moderate, or little pain). Other variables analyzed included age, race, ethnicity, sex, marriage, education, employment, income, insurance, chronic conditions, limitations, exercise, smoking, physical health, and mental health. Chi-squared tests compared differences between pain intensity groups, and multivariable logistic regression models assessed the associations of pain intensity and other variables with each of the four health service utilization variables. The analysis was weighted for national estimates. The significance (alpha) level was 0.05. Results: This analysis included 6280 adults, representing 89,314,769 United States adults with pain. In the multivariable analyses, there were statistically significant associations for extreme pain (odds ratio = 1.72, 95% confidence interval = 1.27–2.33), quite a bit of pain (odds ratio = 1.75, 95% confidence interval=1.37–2.24), and moderate pain (odds ratio = 1.28, 95% confidence interval = 1.02–1.60) versus little pain with emergency room visits, extreme pain (odds ratio = 2.10, 95% confidence interval = 1.44–3.08) and quite a bit of pain (odds ratio = 1.66, 95% confidence interval = 1.21–2.28) versus little pain with inpatient discharges, and quite a bit of pain (odds ratio = 1.47, 95% confidence interval = 1.03–2.11) versus little pain with office visits. There was no correlation between pain intensity levels and outpatient visits. In addition, several other variables were associated with various health service utilization variables. Conclusions: This database analysis discovered greater pain intensity levels were often correlated with increased health service utilization, including more emergency room, inpatient, and office visits. These findings may inform the development of targeted interventions for people with specific characteristics. Further work is needed to implement initiatives that optimize health service utilization and ultimately improve health outcomes for United States adults who have pain. Full article

The ‘ring by spring’ (RBS) phenomenon entails pressures for college seniors on Christian campuses to become engaged by the spring semester of their senior year. These marital pressures often run counter to national trends in the USA as the median age at first marriage continues to climb. The social clock theory suggests that society places a normative timetable on major events such as marriage. But the social clock may not happen the same way for all people, and influences on Christian campus may represent deviations from most normative social clocks. This study investigated RBS awareness, experiences, pressures, and perceptions, along with assessing for differences in gender and religiosity across multiple universities, both Christian and not, across two different states. Results show wide awareness and experience with RBS at many universities along with some notable differences by gender and religiosity. Implications are provided for researchers and practitioners based on study findings. Full article

Background/Objectives: Family assistance by adolescents (e.g., cooking, cleaning, listening to family members) is a common phenomenon. However, the impact of such assistance on adolescent development remains a topic of debate. Increasingly, the importance of adolescents’ own perceptions and interpretations is being emphasized in understanding how family assistance influences their development. Adolescents in marriage immigrant families may face unique psychosocial challenges as they support their immigrant parents. This study explores the family assistance experiences of adolescents in marriage immigrant families. Methods: Data were collected through one-on-one in-depth interviews with 10 adolescents aged 13–18 years from currently married marriage immigrant families, all of whom were born in Korea. The interviews were conducted between October and November 2022. The data were analyzed using interpretative phenomenological analysis. Results: The family assistance experiences were categorized into three main themes, namely, “Old enough to help—naturally, and rightly so”, “Foreign mother whom I naturally come to help”, and “Unavoidable family assistance, even under pressure”, and 10 subordinate themes. The adolescents provided support naturally, grounded in familial obligation and empathy toward their immigrant mothers. When the native Korean father shared the responsibilities, the assistance was not perceived as burdensome. However, diminished paternal involvement, traditional gender role expectations, and unmet emotional or academic needs led to more negative perceptions and psychological stress. Conclusions: Support systems are needed to ensure that adolescents do not assume sole responsibility for both the native father’s and the immigrant mother’s roles within marriage immigrant families. Full article

Background/Objectives: Precise prevention strategies for mild cognitive impairment (MCI) are an urgent public health priority. This study aimed to investigate the association of the Composite Dietary Antioxidant Index and alcohol consumption, as well as their interaction, with the risk of MCI. Methods: A multicenter cross-sectional study was conducted in 2020, involving 1084 individuals aged ≥55 years, in Zhejiang Province, China. Data were collected on demographics, cognitive function, alcohol consumption, depression scale, dietary intake and physical examinations. The Composite Dietary Antioxidant Index (CDAI) was calculated based on the converted Food Frequency Questionnaire (FFQ) Food Composition Tables and the data of the FFQ. CDAI values were divided into four groups by interquartile ranges: Quartile-1 (Q1), Quartile-2 (Q2), Quartile-3 (Q3) and Quartile-4 (Q4). Multivariate logistic regression models were used to evaluate the association of CDAI and alcohol consumption with MCI risk and their interaction. Results: The prevalence of MCI was 24.6%. After adjusting for gender, age, educational level, job, marriage, Body Mass Index (BMI), central obesity, frequency of social activities, depression, sleep disturbances, smoking, diabetes, and energy intake, the Q2 (OR = 0.63, 95% CI: 0.42~0.95), Q3 (OR = 0.52, 95% CI: 0.34~0.81) and Q4 (OR = 0.25, 95% CI: 0.14~0.48) of CDAI were significantly associated a reduced risk of MCI. In contrast, alcohol consumption 1~2 times per week (OR = 2.38, 95% CI: 1.02~5.59) and at least 3 times a month (OR = 2.04, 95% CI: 1.19~3.50) was significantly associated with an increased risk of MCI. Interaction analysis indicated a negative additive interaction between alcohol consumption and CDAI on MCI risk, with the detrimental effects of alcohol predominating. Conclusions: A higher CDAI is associated with a reduced risk of MCI, while alcohol consumption is associated with an increased risk. There may be a negative additive interaction between CDAI and alcohol intake in relation to MCI. Targeted strategies that reduce alcohol consumption and improve dietary antioxidant intake are essential for MCI prevention. Full article

Background/Objectives: In the last decade, there has been a notable increase in the prevalence of cognitive decline among the elderly population. This phenomenon is further compounded by the concurrent rise in life expectancy, indicating a growing concern for the health and well-being of individuals in this demographic. Dementia has become a disease with a strong social impact, not exclusively limited to its health dimension. It is generally accepted that lifestyle factors and psychological attitudes toward life challenges may serve as protective mechanisms against pathological cognitive decline. The objective of this contribution is to evaluate the impact of lifestyle factors (e.g., physical activity, employment history, nutrition, technology use, etc.), stressors (e.g., illness, rare events, abandonments, home moving, etc.), and sociability (e.g., marriage, active friend network, children proximity, work relationships, etc.) at the onset of pathological cognitive frailty. Methods: In this study, a semi-structured interview was administered to 32 individuals over the age of 65 during their initial neuropsychological evaluation for suspected dementia. Results: Linear regressions with Mini Mental State Examination scores indicated that lifestyle and sociability factors offer a degree of protection against cognitive decline, while stressors were found to be unrelated to this phenomenon. Conclusions: The utilization of contemporary technologies, the possession of a driver’s license, and the maintenance of an active social network have been demonstrated to possess a high degree of predictive value with respect to cognitive reserve in the context of aging. Full article

Background: Breast cancer poses a significant health challenge in Bangladesh, where limited screening and unique reproductive patterns contribute to delayed diagnoses and subtype-specific disparities. While reproductive risk factors such as age at menarche, parity, and contraceptive use are well studied in high-income countries, their associations with hormone-receptor-positive (HR+) and triple-negative breast cancer (TNBC) remain underexplored in low-resource settings. Methods: A case-control study was conducted at the National Institute of Cancer Research and Hospital (NICRH) including 486 histopathologically confirmed breast cancer cases (246 HR+, 240 TNBC) and 443 cancer-free controls. Socio-demographic and reproductive data were collected through structured interviews. Machine learning models—including Logistic Regression, Lasso, Support Vector Machines, Random Forest, and XGBoost—were trained using stratified five-fold cross-validation. Model performance was evaluated using sensitivity, F1-score, and Area Under Receiver Operating Curve (AUROC). To interpret model predictions and quantify the contribution of individual features, we employed Shapley Additive exPlanation (SHAP) values. Results: XGBoost achieved the highest overall performance (F1-score = 0.750), and SHAP-based interpretability revealed key predictors for each subtype. Rural residence, low education (≤5 years), and undernutrition were significant predictors across subtypes. Cesarean delivery and multiple abortions were more predictive of TNBC, while urban residence, employment, and higher education were more predictive of HR+. Age at menarche and age at first childbirth showed decreasing predictive importance with increasing age for HR+, while larger gaps between marriage and childbirth were more predictive of TNBC. Conclusions: Our findings underscore the value of machine learning coupled with SHAP-based explainability in identifying context-specific risk factors for breast cancer subtypes in resource-limited settings. This approach enhances transparency and supports the development of targeted public health interventions to reduce breast cancer disparities in Bangladesh. Full article

This paper investigates the growing political alignment of Latino Evangelicals with the Republican Party, particularly their support for Donald Trump in the 2020 election. Historically, Latino political behavior has been studied with an assumption of religious homogeneity, largely focusing on the Catholic majority. However, the rise of the Latino Evangelical population has coincided with increasing Latino support for the GOP. Former President Obama attributed this shift in support to the growing Evangelical demographic. Building on Chaturvedi’s (2014) work, which found that Evangelical Latinos’ conservative views on issues like same-sex marriage vary by age, this study tests Obama’s assertion using data from the 2020 USC Dornsife Presidential Poll. Logistic regressions show that older Latino Evangelicals were significantly more likely to support Trump, driven by their desire to elect officials who align with their Evangelical policy preferences. The findings explain that the political behavior of older Latino Evangelicals is more strongly related to religious values compared to their younger counterparts. These results highlight the importance of considering religious diversity within Latino politics, pointing to religious identity as a key factor in shaping Latino political behavior and emphasizing the need for further exploration of religious variation in Latino voting patterns. Full article

Background: Biological age (BA) is a better representative of health status than chronological age (CA), as it uses different biological markers to quantify cellular and systemic change status. However, BA can be difficult to accurately estimate using current methods. This study uses multiple adaptive regression spline (MARS) to build an equation to estimate BA among healthy postmenopausal women, thereby potentially improving the efficiency and accuracy of BA assessment. Methods: A total of 11,837 healthy women were enrolled (≥51 years old), excluding participants with metabolic syndrome variable values outside two standard deviations. MARS was applied, with the results compared to traditional multiple linear regression (MLR). The method with the smaller degree of estimation error was considered to be more accurate. The lower prediction errors yielded by MARS compared to the MLR method suggest that MARS performs better than MLR. Results: The equation derived from MARS is depicted. It could be noted that BA could be determined by marriage, systolic blood pressure (SBP), diastolic blood pressure (DBP), waist–hip ratio (WHR), alkaline phosphatase (ALP), lactate dehydrogenase (LDH), creatinine (Cr), carcinoembryonic antigen (CEA), bone mineral density (BMD), education level, and income. The MARS equation is generated. Conclusions: Using MARS, an equation was built to estimate biological age among healthy postmenopausal women in Taiwan. This equation could be used as a reference for calculating BA in general. Our equation showed that the most important factor was BMD, followed by WHR, Cr, marital status, education level, income, CEA, blood pressure, ALP, and LDH. Full article

Background: It is unclear how marital status moderates the association between multidomain leisure activities and the progression of cognitive decline in community-dwelling older adults. Methods: Data from the Chinese Longitudinal Healthy Longevity Survey with up to 10 years of follow-up were used. The study included participants aged ≥65 years without cognitive impairment at baseline. Cognitive function was assessed using the Mini-Mental State Examination (MMSE). Linear mixed-effect models were used to evaluate the modifying effect of marriage on leisure activities (multiple types, frequency, and single type) and cognitive decline. Results: A total of 5286 participants (aged 79.01 ± 9.54 years, 50.0% women, and 61.4% rural residents) were enrolled. The results indicated that marital status moderates the relationship between leisure activities and cognitive decline. In the unmarried group, multi-type and high-frequency leisure activities were more strongly associated with slower cognitive decline. Specific activities such as gardening, reading, performing household chores, and playing cards were found to significantly contribute to cognitive protection exclusively within the unmarried group, with no such effect observed in the married group. Conclusions: Marital status affects the relationship between participation in multiple leisure activities and cognitive decline in cognitively intact elderly people. For unmarried older adults, regular participation in leisure activities may be an effective intervention. Full article

Background: Facial features are the first basic sign of medical knowledge of children and adults with congenital malformations. Children born with multiple contractures almost always receive the misdiagnosis of arthrogryposis multiplex. Larsen syndrome can easily be diagnosed at birth via the proper interpretations of its characteristic facial features and multiple dislocations. Comprehensive clinical diagnosis can facilitate an orthopedic strategy for early treatment and can enhance the recognition of unreported craniocervical malformation complexes. Material and Methods: Six children (four boys and two girls, with ages ranging from a few months to 7 years old) were referred to our department for diagnosis and treatment. All children received their first misdiagnosis by the pediatricians as manifesting arthrogryposis multiplex congenita. The clinical phenotype was our first decisive tool for diagnosis. All children exhibited the classical phenotype of dish-like facies associated with multiple joint dislocations. Radiological phenotypic characteristics confirmed our clinical diagnosis of Larsen syndrome. Three children out of six showed unpleasant cervical spine deformities. The first child, a 2-year-old, became tetraplegic after minor trauma. One child presented with progressive rigid cervical kyphosis. The third child was a product of a first-relative marriage and was born with congenital tetraplegia. A genotype was carried out for confirmation. Results: Three children underwent open reduction for congenital hip and knee dislocations. One child underwent spinal fusion CO-C7 because of tetraplegia. A 3D-reformatted and reconstruction CT scan of the craniocervical junction showed two forms of unusual dys-segmentation, firstly along C2-3 effectively causing the development of acute-angle cervical kyphosis. Secondly, an infant with congenital tetraplegia showed a serious previously undescribed atlanto–axial malformation complex. Namely, atlanto–axial maldevelopment (dys-segmentation) of (C1/C2) was associated with hypoplasia of the anterior and the posterior rings of the atlas. Genetic tests of these children were compatible with the autosomal dominant type of Larsen syndrome and manifested a heterozygous mutation in FLNB mapped 3p14.3, encoding an actin-binding protein, filamin B. The child with congenital tetraplegia showed no mutations in FLNB, though his clinical and radiological phenotype and his family history of first-relative marriage were totally compatible with the diagnosis of the autosomal recessive type of Larsen syndrome. Conclusions: Our strategy was and still is based on a coherent clinical and radiological diagnosis, which is based on comprehensive clinical and radiological phenotypic characterizations. We implemented a 3D-reformatted CT scan to further understand the craniocervical junction pathology in three children. Strikingly, prenatal onset of lethal maldevelopment (dys-segmentation) of the atlanto–axial spine segments has been diagnosed in an infant with congenital tetraplagia. A less serious cervical spine malformation was detected in two children who presented with progressive acute-angle cervico and cervico-thoracic kyphosis. Our clinical strategy can form the basis for a thorough clinical assessment for infants and children born with multiple malformation complexes and can lead to recognition of novel understandings. Full article

One of the most refined tools that have been devised for the analysis of marriage behavior of a population is the nuptiality tables. There are two main categories of such tables: gross and net. The latter (net tables) are primarily used for the study of reproduction in natural fertility populations, while the former (gross tables) are more suitable for comparing nuptiality among several populations, as differences in net tables may be due to differences either in mortality or in nuptiality or to an unknown mixture of both. In what follows, gross, abridged, period nuptiality tables have been constructed for the single population of Greece for four time points: 1991, 2001, 2011, and 2021. A significant decline in nuptiality was observed during the thirty-year period, with the age pattern of marriage being different by sex. While spinsters nowadays (2021) are more likely to marry at old ages (especially at ages above 40) than ever in the past, this is not the case for bachelors anymore. For a bachelor in Greece, the probabilities of marrying are lower in every age group than ever in the last 30 years. Full article

Sexual violence among school-aged girls is a global health problem. Research has shown that school-aged girls experience high rates of sexual violence that often go unreported. In Kenya, one in three girls experiences sexual violence before the age of 18. Sexual violence against girls can prevent them from safely attending school and cause health issues that affect school performance. This qualitative study explored community and environmental factors associated with sexual violence against school-aged girls in Kitui County, Kenya. A total of 25 in-depth interviews were conducted with key stakeholders from Kitui South Sub County. The stakeholders were from six sectors, including the police, health, education, community, religious, and criminal justice sectors. The data were analyzed using conventional content analysis to gain an understanding of the stakeholder’s perspectives and knowledge relating to sexual violence against school-aged girls. Stakeholders frequently identified the criminal justice system, culture and traditional beliefs, and threats to well-being as barriers to reporting sexual violence offenses. Girls who experience sexual violence often contend with shame from the community, and the effects of stigma include loss of resources, additional violence, poorer marriage prospects, unplanned pregnancies, school dropouts, or abandonment. Perpetrators often threatened or bribed the families of girls who experienced sexual violence with gifts or monetary incentives to prevent them from reporting the crime to local authorities, while the criminal justice system itself presents numerous challenges for victims. The reporting of sexual violence could be increased by focusing on intervention strategies that challenge attitudes, norms, and behaviors rooted in gender inequality. By addressing the underlying causes of stigma and inequality, we can create a safer environment for school-aged girls to report sexual violence and seek justice. Full article

Introduction: Using the essential reproductive care services such as antenatal care (ANC) and skilled birth services are vital for ensuring safe motherhood and controlling maternal and child mortality. There is no recent evidence on the state of using reproductive care services in Pakistan women. The purpose of the cross-sectional study is to explore the timing and frequency of ANC, the hospital and other institutional delivery, the cesarean section (C-section) services and to identify the sociodemographic factors that are associated with the use of these services. Methodology: Using the latest Pakistan Demographic and Health Survey (2017-18 PDHS) for this analysis, the data were collected by face-to-face interviews by trained interviewers, which included 8287 women aged 15–49 years. The data on reproductive services were defined by standard guidelines by the World Health Organization (WHO). Data analyses involved univariate tests and multivariate regression techniques. Results: The percentage of women who attended ANC visits in the first trimester was 62.59%, and those who attended the minimum recommended number of four visits was 49.46%. The percentages of using hospital and C-section services were, respectively, 76.20% and 19.63%. In the regression analysis, place of residence, education, household wealth status, access to using electronic media and learning about family planning from electronic media and before marriage were found to significantly predict the use of ANC and facility delivery services. However, educational and household wealth status stood out as the strongest predictors of all. About half of the women were not having adequate ANC visits and about one-third not making timely ANC contact. More than three-quarters reported choosing to deliver at hospital/other facility, and about one-fifth preferred C-section. Conclusions: The results indicated that, among the predictor of using these services, education and household wealth status were found to have the strongest association, highlighting the role of women’s socioeconomic well-being in availing the basic reproductive healthcare services. Hence, this study suggests that the government and medical institutions should further pay attention to the ANC visits and reduce infant birth mortality rates. Simultaneously, increasing women’s educational opportunities, enhancing women’s socioeconomic well-being and social status, can help improve their health awareness and promote healthy behaviors. Full article

Background: Sickle cell disease (SCD) is a rare autosomal recessive disorder that is common in countries with consanguineous marriages. It leads to various complications, including painful episodes, infections, delayed growth, stroke, and organ damage, which contribute to high healthcare utilization and costs. In Saudi Arabia, the prevalence of SCD is notably high, largely due to the frequency of consanguineous marriages. However, there has not yet been a study estimating the direct medical costs of managing SCD based on real-world data. This study aims to assess these costs in Saudi Arabia. Methods: Data were collected from electronic medical records (EMRs) at a university-affiliated tertiary care center. A micro-costing approach was used to estimate the direct medical costs (e.g., laboratory tests, imaging, emergency department visits, hospitalizations, prescription medications, outpatient visits, etc.) retrospectively over a 12-month follow-up period. The baseline characteristics of the patients were presented using frequencies and percentages. The costs of different healthcare services were analyzed using means and the 95% confidence intervals. A generalized linear model (GLM) with a gamma distribution was utilized to examine the association between the overall costs and patient characteristics (e.g., age, gender, duration of illness, surgeries, blood transfusions, etc.), allowing for the estimation of the adjusted mean costs. Results: A total of 100 patients met the inclusion criteria and were included in the analysis. The mean age of the patients was 10.21 years (±6.87 years); 53% were male, and a substantial majority (96%) had the HbSS genotype. Sixty-one percent of the patients had undergone at least one red blood cell (RBC) exchange transfusion, while 21% had undergone surgical procedures, including tonsillectomy, splenectomy, and cholecystectomy. Additionally, 45% had experienced at least one vaso-occlusive crisis (VOC), and 59% had been hospitalized at least once in the past 12 months. Factors such as the frequency of laboratory tests and imaging studies, the length of hospital stay (LOS), the rate of emergency department (ED) visits, surgical procedures, the number of prescription medications, and the frequency of blood transfusions were all significant predictors of higher direct medical costs (p < 0.05). The estimated mean annual direct medical costs per patient were USD 26,626.45 (95% CI: USD 22,716.89–USD 30,536.00). After adjusting for various factors, including age, gender, duration of illness, frequency of lab and imaging tests, LOS, ED visits, surgical procedures, number of prescription medications, rates of VOCs, and RBC exchange transfusions, the adjusted mean annual direct medical cost per patient was calculated to be USD 14,604.72 (95% CI: USD 10,943.49–USD 19,525.96). Conclusions: The results of this study emphasize the substantial direct medical costs linked to sickle cell disease (SCD), which are greatly affected by the frequency of related complications. These insights should motivate policymakers and healthcare researchers to assess both the national direct and indirect costs associated with SCD, especially given the significant number of SCD patients in Saudi Arabia. Full article