Miracle-dz/UniFAR-FTUs huggingface dataset:
Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient

Background 11β hydroxylase deficiency (11βOHD) ranks as the second most common enzyme deficiency that causes congenital adrenal hyperplasia. Depending on the severity of the enzyme deficiency, it can lead to cortisol deficiency, androgen excess and hypertension due to increased mineralocorticoid precursor levels. Many different types of mutations in the CYP11B1 gene located on chromosome 8q24.3 have been shown to cause 11βOHD. Here, we report a novel missense mutation that leads to 11βOHD in a female patient. Case Presentation A 35-year-old female patient was admitted to the Endocrinology Department with a complaint of abdominal pain. The patient had a history of genital reconstruction surgery twice in childhood. On physical examination, an abdominal mass was detected. Laboratory examination of the patient revealed low levels of cortisol, potassium and high levels of ACTH, 11-deoxycortisol and androstenedione, suggesting 11βOHD. Genotyping showed a novel homozygous missense mutation (c.1385T>C L462P variant) detected on the 8th chromosome where the CYP11B1 gene is located. Glucocorticoid therapy was commenced for the patient whose diagnosis of 11βOHD was confirmed by both hormonal and genetic tests. A mass originating from the left adrenal gland with the largest diameter of 7 cm was compatible with myelolipoma. Conclusion In this case report, we aimed to contribute to the literature by reporting a new missense mutation in the CYP11B1 gene, leading to classic type 11βOHD that has not been described before.
Predictors of cognitive impairment in patients undergoing ileostomy for colorectal cancer: a retrospective analysis

Background Early detection of cognitive impairment in patients undergoing ileostomy for colorectal cancer may help improve patient outcomes and quality of life. Identifying risk factors and clinically accessible factors is crucial for prevention and treatment. Objective This retrospective study aimed to identify risk factors for post-operative cognitive impairment in patients undergoing ileostomy for colorectal cancer and to explore potential factors for its prevention and treatment. Methods A total of 108 cases were selected and included in the study. Patient data including general characteristics, disease stage, complications, and chemotherapy status were collected, and sleep quality and cognitive function were assessed using questionnaires and follow-up. Patients were randomly divided into training and validation groups. A random forest model was used to rank clinical features based on their contribution to predicting the prognosis of cancer-related cognitive impairment (CRCI). Nomograms were constructed using the support vector machine–recursive feature elimination (SVM-RFE) method, and the minimal root-mean-square error (RMSE) values were compared to select the best model. Regression analysis was performed to determine independent predictors. Results Significant differences were observed in age, body mass index (BMI), alcohol consumption, frequency of physical activity, comorbidity, and cancer-related anemia (CRA) between the CRCI and non-CRCI groups. Random forest analysis revealed that age, BMI, exercise intensity, PSQI scores, and history of hypertension were the most significant predictors of outcome. Univariate logistic regression analysis of 18 variables revealed that age, alcohol consumption, exercise intensity, BMI, and comorbidity were significantly associated with the outcome of CRCI (p < 0.05). Univariate and multivariate models with P-values less than 0.1 and 0.2, respectively, showed better predictive performance for CRCI. The results of univariate analysis were plotted on a nomogram to evaluate the risk of developing CRCI after colorectal cancer surgery. The nomogram was found to have good predictive performance. Finally, regression analysis revealed that age, exercise intensity, BMI, comorbidity, and CRA were independent predictors of CRCI. Conclusions This retrospective cohort study revealed that age, exercise intensity, BMI, comorbidity, CRA, and mobility are independent predictors of cognitive impairment in patients undergoing ileostomy for colorectal cancer. Identifying these factors and potential factors may have clinical implications in predicting and managing post-operative cognitive impairment in this patient population.
Transactional sex among women in Sub-Saharan Africa: A systematic review and meta-analysis

Introduction Transactional sex is casual sex between two people to receive material incentives in exchange for sexual favors. Transactional sex is associated with negative consequences, which increase the risk of sexually transmitted diseases, including HIV/AIDS, unintended pregnancy, unsafe abortion, and physiological trauma. In Sub-Saharan Africa, several primary studies have been conducted in various countries to examine the prevalence and associated factors of transactional sex among women. These studies had great discrepancies and inconsistent results. Hence, this systematic review and meta-analysis aimed to synthesize the pooled prevalence of the practice of transactional sex among women and its associated factors in Sub-Saharan Africa. Method Data source: PubMed, Google Scholar, HINARI, the Cochrane Library, and grey literature were searched from March 6 to April 24, 2022, and included studies conducted from 2000 to 2022. The pooled prevalence of transactional sex and associated factors was estimated using Random Effect Model. Stata (version 16.0) was used to analyze the data. The I-squared statistic, a funnel plot, and Egger’s test were used to check for heterogeneity and publication bias, respectively. A subgroup analysis was done based on the study years, source of data, sample sizes, and geographical location. Results The pooled prevalence of transactional sex among women in Sub-Saharan Africa was 12.55% (9.59%–15.52%). Early sexual debut (OR = 2.58, 95% CI: 1.56, 4.27), substance abuse (OR = 4.62, 95% CI: 2.62, 8.08), history of sexual experience (OR = 4.87, 95% CI: 2.37, 10.02), physical violence abuse (OR = 6.70, 95% CI: 3.32, 13.53), orphanhood (OR = 2.10, 95% CI: 1.27, 3.47), and sexual violence abuse (OR = 3.76, 95% CI: 1.08, 13.05) were significantly associated with transactional sex. Conclusion The prevalence of transactional sex among women in sub-Saharan Africa was high. Alcohol consumption, substance abuse, early sex debuts, having a history of sexual experiences, physical violence, and sexual violence increased the practice of transactional sex.
Association between pseudoexfoliation and Alzheimer’s disease-related brain atrophy

Background/aims Pseudoexfoliation (PEX) syndrome is an age-related disorder characterized by the accumulation of extracellular material in the anterior eye segment. PEX pathogenesis is not fully understood, but amyloid which accumulates in the brain of patients with Alzheimer’s disease (AD) is a PEX component. PEX deposition shares features with amyloid aggregation in AD, and brain atrophy is a common AD feature, with β-amyloid accumulation among contributing factors. This study investigated whether PEX syndrome is associated with AD-related brain atrophy. Methods We reviewed the medical records of patients diagnosed with PEX at the Veterans Health Service Medical Center between January 2015 and August 2021. This retrospective cohort study included 48 patients with PEX and 48 healthy age- and sex-matched controls. Patients with PEX were divided into two groups: with and without glaucoma. The main outcome measure was brain atrophy, using a visual rating scale, and AD incidence. Brain atrophy was measured using the Scheltens scale for medial temporal atrophy, the posterior cortical atrophy scale for parietal atrophy, and the Pasquier scale for global cortical atrophy. Results The percentage of participants with medial temporal atrophy was 56.3% in the PEX group and 35.4% in the control group. The global cortical atrophy and parietal atrophy scores were significantly higher in the PEX group (P<0.05), whereas the PEX and PEX glaucoma groups showed no difference. Among the 96 participants, 16 and 5 participants in the PEX and control groups, respectively, were diagnosed with dementia. Patients with PEX glaucoma tended to have lower Mini-Mental State Examination scores, indicating impaired cognitive function, than those without glaucoma. Conclusion PEX is associated with brain atrophy, reflecting the risk of developing AD. Patients with PEX glaucoma may present with advanced AD stages. Our results suggest that PEX may be a predictor of AD.
Factors associated with willingness to take Pre-Exposure Prophylaxis (PrEP) among high-risk adolescent boys and young men in Masese fishing community, Uganda

Pre-Exposure Prophylaxis (PrEP) is a known HIV prevention strategy for high-risk populations however, some high-risk communities have not yet fully embraced it. We sought to determine willingness to take PrEP and the associated factors among high-risk adolescent boys and young men (ABYM) in Masese fishing community, Jinja district, Eastern Uganda. We conducted a cross-sectional study, between October and November 2020, using a semi-structured questionnaire among ABYM aged 10–24 years in Masese fishing community, Eastern Uganda. We surveyed 479 participants, who had two or more sexual partners with inconsistent or no condom use. We carried out modified Poisson regression analysis to determine factors associated with willingness to take PrEP.Of 479 high-risk ABYM, 86.4% (n = 414) were willing to take PrEP. Confidence in PrEP safety (adj.PR = 1.56; 95%CI: 1.55, 2.24), availability of PrEP in areas easily accessible by ABYM (adj.PR = 1.40; 95%CI: 1.25, 1.57), and perceiving oneself as being at a very high risk of HIV infection (adj.PR = 1.11; 95%CI: 1.03, 1.20) were positively associated with willingness to take PrEP. On the other hand, being unmarried (adj.PR = 0.92; 95%CI: 0.87, 0.98) and earning more than USD 27 a month (adj.PR = 0.92; 95%CI: 0.87, 0.97) were negatively associated with willingness to take PrEP. There was high willingness to take PrEP among adolescent boys and young men in Masese fishing community. Confidence in PrEP safety, access to PrEP in their community and self-perception to be at high risk for HIV acquisition had a positive bearing on willingness to take PrEP while being unmarried and earning more than USD27 had a negative bearing on willingness to take PrEP. These findings suggest a need for target-specific interventions for unmarried men and those earning >USD27.
Placental pathology reports: A qualitative study in a US university hospital setting on perceived clinical utility and areas for improvement

Objective To explore how placental pathology is currently used by clinicians and what placental information would be most useful in the immediate hours after delivery. Study design We used a qualitative study design to conduct in-depth, semi-structured interviews with obstetric and neonatal clinicians who provide delivery or postpartum care at an academic medical center in the US (n = 19). Interviews were transcribed and analyzed using descriptive content analysis. Results Clinicians valued placental pathology information yet cited multiple barriers that prevent the consistent use of pathology. Four main themes were identified. First, the placenta is sent to pathology for consistent reasons, however, the pathology report is accessed by clinicians inconsistently due to key barriers: difficult to find in the electronic medical record, understand, and get quickly. Second, clinicians value placental pathology for explanatory capability as well as for contributions to current and future care, particularly when there is fetal growth restriction, stillbirth, or antibiotic use. Third, a rapid placental exam (specifically including placental weight, infection, infarction, and overall assessment) would be helpful in providing clinical care. Fourth, placental pathology reports that connect clinically relevant findings (similar to radiology) and that are written with plain, standardized language and that non-pathologists can more readily understand are preferred. Conclusion Placental pathology is important to clinicians that care for mothers and newborns (particularly those that are critically ill) after birth, yet many problems stand in the way of its usefulness. Hospital administrators, perinatal pathologists, and clinicians should work together to improve access to and contents of reports. Support for new methods to provide quick placenta information is warranted.
Development and validation of an international preoperative risk assessment model for postoperative delirium

Abstract Background Postoperative delirium (POD) is a frequent complication in older adults, characterised by disturbances in attention, awareness and cognition, and associated with prolonged hospitalisation, poor functional recovery, cognitive decline, long-term dementia and increased mortality. Early identification of patients at risk of POD can considerably aid prevention. Methods We have developed a preoperative POD risk prediction algorithm using data from eight studies identified during a systematic review and providing individual-level data. Ten-fold cross-validation was used for predictor selection and internal validation of the final penalised logistic regression model. The external validation used data from university hospitals in Switzerland and Germany. Results Development included 2,250 surgical (excluding cardiac and intracranial) patients 60 years of age or older, 444 of whom developed POD. The final model included age, body mass index, American Society of Anaesthesiologists (ASA) score, history of delirium, cognitive impairment, medications, optional C-reactive protein (CRP), surgical risk and whether the operation is a laparotomy/thoracotomy. At internal validation, the algorithm had an AUC of 0.80 (95% CI: 0.77–0.82) with CRP and 0.79 (95% CI: 0.77–0.82) without CRP. The external validation consisted of 359 patients, 87 of whom developed POD. The external validation yielded an AUC of 0.74 (95% CI: 0.68–0.80). Conclusions The algorithm is named PIPRA (Pre-Interventional Preventive Risk Assessment), has European conformity (ce) certification, is available at http://pipra.ch/ and is accepted for clinical use. It can be used to optimise patient care and prioritise interventions for vulnerable patients and presents an effective way to implement POD prevention strategies in clinical practice.
The effect of psychological factors on financial behaviour among older Australians: Evidence from the early stages of COVID-19 pandemic

The current study investigated the association between psychological factors and financial behaviour during the COVID-19 pandemic in older people. Older people were chosen compared to other age groups because of the relatively greater impact in this age group of suboptimal financial decisions on future financial wellbeing. We hypothesised that the psychological factors facilitating general wellbeing during the COVID-I9 pandemic, i.e., positive mental wellbeing, hope, and positive coping, will have positive effects on financial behaviour. Based on telephone interviews, 1501 older Australians (Men = 750 and Women = 751; 55-64y = 630; > 65y = 871) completed an omnibus questionnaire examining coping, hope, mental wellbeing, and financial behaviour. Data was analysed using logistic regression and an ordinary and two-stage least square frameworks. Analyses revealed that the psychological factors identified as facilitating general wellbeing during the COVID-I9 pandemic also facilitated positive financial behaviour with hope and mental wellbeing emerging as significant determinants. Based on weightings from principal component analysis, one item each from the hope and mental wellbeing scale with eigenvalues > 1 were found to be robust predictors of positive financial behaviours. In conclusion, the findings support the assumption that the psychological factors associated with general wellbeing during the COVID-19 pandemic are also associated with positive financial behaviour. They further raise the possibility that single hope and positive mental well-being items can also be used to monitor psychological health and predict financial behaviour in older people and, in particular, at times of crisis. The latter may be useful measures for government to monitor psychological and financial wellbeing and inform policy for supporting older people at times of crisis.
Developing interpretable machine learning-Shapley additive explanations model for unconfined compressive strength of cohesive soils stabilized with geopolymer

This paper seeks to develop an interpretable Machine Learning (ML) model for predicting the unconfined compressive strength (UCS) of cohesive soils stabilized with geopolymer at 28 days. Four models including Random Forest (RF), Artificial Neuron Network (ANN), Extreme Gradient Boosting (XGB), and Gradient Boosting (GB) are built. The database consists of 282 samples collected from the literature with three different types of cohesive soil stabilized with three geopolymer categories including Slag-based geopolymer cement, alkali-activated fly ash geopolymer and slag/fly ash-based geopolymer cement. The optimal model is selected by comparing their performances with each other. The values of hyperparameters are tuned by Particle Swarm Optimization (PSO) algorithm and K-Fold Cross Validation. Statistical indicators show the superior performance of the ANN model with three metrics performance such as coefficient of determination R2 = 0.9808, Root Mean Square Error RMSE = 0.8808 MPa and Mean Absolute Error MAE = 0.6344 MPa. In addition, a sensitivity analysis was performed to determine the influence of different input parameters on the UCS of cohesive soils stabilized with geopolymer. The order of feature effect can be ordered in descending order using the Shapley additive explanations (SHAP) value as follows: Ground granulated blast slag content (GGBFS) > Liquid limit (LL) > Alkali/Binder ratio (A/B) > Molarity (M) > Fly ash content (FA) > Na/Al > Si/Al. The ANN model can obtain the best accuracy using these seven inputs. LL has a negative correlation with the growth of unconfined compressive strength, whereas GGBFS has a positive correlation.
Barriers and facilitators to hepatitis B birth dose vaccination: Perspectives from healthcare providers and pregnant women accessing antenatal care in Nigeria

Nigeria is estimated to have the largest number of children worldwide, living with chronic hepatitis B virus (HBV) infection, the leading cause of liver cancer. Up to 90% of children infected at birth develop chronic HBV infection. A birth dose of the hepatitis B vaccine (HepB-BD) followed by at least two additional vaccine doses is recommended for prevention. This study assessed barriers and facilitators of HepB-BD administration and uptake, using structured interviews with healthcare providers and pregnant women in Adamawa and Enugu States, Nigeria. The Consolidated Framework for Implementation Sciences Research (CFIR) guided data collection and analysis. We interviewed 87 key informants (40 healthcare providers and 47 pregnant women) and created a codebook for data analysis. Codes were developed by reviewing the literature and reading a subsample of queries line-by-line. The overarching themes identified as barriers among healthcare providers were: the lack of hepatitis B knowledge, limited availability of HepB-BD to vaccination days only, misconceptions about HepB-BD vaccination, challenges in health facility staffing capacity, costs associated with vaccine transportation, and concerns related to vaccine wastage. Facilitators of timely HepB-BD vaccination included: vaccine availability, storage, and hospital births occurring during immunization days. Overarching themes identified as barriers among pregnant women were lack of hepatitis B knowledge, limited understanding of HepB-BD importance, and limited access to vaccines for births occurring outside of a health facility. Facilitators were high vaccine acceptance and willingness for their infants to receive HepB-BD if recommended by providers. Findings indicate the need for enhanced HepB-BD vaccination training for HCWs, educating pregnant women on HBV and the importance of timely HepB-BD, updating policies to enable HepB-BD administration within 24 hours of birth, expanding HepB-BD availability in public and private hospital maternity wards for all facility births, and outreach activities to reach home births.
Dual‐band antenna circularly polarized for handheld RFID reader using metasurfaces

In this article, the authors proposed a new structure able to convert signals linearly polarized generated by a microstrip antenna for circularly polarized signals at two operating bands (2.45 and 5.8 GHz), for use in portable radio frequency identification readers, using two miniaturized metasurfaces. All simulation results were obtained using the commercial software HFSS™. Prototypes were built and their characteristics were measured. We obtained a good agreement between simulated and measured results. The proposed structure is able to obtain linear to circular conversion in two bands of interesting, with a large bandwidth for return loss and axial ratio. The structure is simple and presents good advantages as low profile and low cost. © 2016 Wiley Periodicals, Inc. Microwave Opt Technol Lett 58:2294–2300, 2016
Analysis and classification of 1H-NMR spectra by multifractal analysis

The objective of this research focuses on the development of a statistical methodology able to answer the question of whether variation in the intake of sulfur amino acids (SAA) affects the metabolic process. Traditional approaches, which evaluate specific biomarkers after a series of preprocessing procedures, have been criticized as not being fully informative, as well as inappropriate for translation of methodology. Rather than focusing on particular biomarkers, our proposed methodology involves the multifractal analysis that measures the inhomogeneity of regularity of the proton nuclear magnetic resonance (1H-NMR) spectrum by wavelet-based multifractal spectrum. With two different statistical models (Model-I and Model-II), three different geometric features of the multifractal spectrum of each 1H-NMR spectrum (spectral mode, left slope, and broadness) are employed to evaluate the effect of SAA and discriminate 1H-NMR spectra associated with different treatments. The investigated effects of SAA include group effect (high and low doses of SAA), depletion/repletion effect, and time over data effect. The 1H-NMR spectra analysis outcomes show that group effect is significant for both models. The hourly variation in time and depletion/repletion effects does not show noticeable differences for the three features in Model-I. However, these two effects are significant for the spectral mode feature in Model-II. The 1H-NMR spectra of the SAA low groups exhibit highly regular patterns with more variability than that of the SAA high groups for both models. Moreover, the discriminatory analysis conducted using the support vector machine and the principal components analysis shows that the 1H-NMR spectra of SAA high and low groups can be easily discriminatory for both models, while the spectra of depletion and repletion within these groups are discriminatory for Model-I and Model-II. Therefore, the study outcomes imply that the amount of SAA is important and that SAA intake affects mostly the hourly variation of the metabolic process and the difference between depletion and repletion each day. In conclusion, the proposed multifractal analysis of 1H-NMR spectra provides a novel tool to investigate metabolic processes.
Path-Dependent BSDEs with Jumps and Their Connection to PPIDEs

We study path-dependent backward stochastic differential equations (BSDEs) with jumps. In this context path-dependence of a BSDE is the dependence of the BSDE-terminal condition and the BSDE-generator of a path of a cadlag process. We study the path-differentiability of BSDEs of this type and establish a connection to path-dependent PIDEs in terms of the existence of a viscosity solution and the respective Feynman-Kac theorem.