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Cureus May 2024Beta-thalassemia is one of the most common inherited hematological diseases caused by more than 350 mutations in the β-globin gene (HBB). Beta-thalassemia carrier or...
Beta-thalassemia is one of the most common inherited hematological diseases caused by more than 350 mutations in the β-globin gene (HBB). Beta-thalassemia carrier or trait is associated with defects in one allele of the HBB gene. The majority of beta-thalassemia trait cases remain concealed in society and remain unnoticed as they are mostly asymptomatic or present with mild symptoms of anemia. There is a 25% chance of having children with beta-thalassemia major and a 50% chance of having carrier babies when two people with beta-thalassemia trait are married. Hence, it is important to identify the individuals with beta-thalassemia trait and provide counseling to understand the risks of pregnancy and its outcome. Aim To study the identification of beta-thalassemia trait cases along with their clinical findings and hematological correlation. Materials and methods Study Design This was a retrospective study conducted at Saveetha Medical College and Hospital for a period of four years from January 2020 to December 2023. Inclusion Criteria Age group more than 18 years, antenatal mother, cases of anemia who were refractory to iron treatment, and screening of family members in the positive cases of beta-thalassemia trait. Exclusion Criteria History of blood transfusion within three months was excluded. A total number of 837 cases were screened to rule out the presence of beta-thalassemia trait/hemoglobin (Hb) variants. A 2 mL of intravenous blood samples were collected in an ethylene diamine tetraacetic acid (EDTA) vacutainer tube and processed in a Sysmex XN 1000 (Hyogo, Japan: Sysmex Corporation) automated hematology analyzer. The hematological parameters were analyzed. Statistical Analysis The study included both descriptive and analytical characteristics. Mean and standard deviation (SD) were calculated for all the hematological parameters. Beta-thalassemia trait was diagnosed with an HbA2 level of more than 4.0% through high-performance liquid chromatography (HPLC) analysis. Results Among the 837 samples studied for HPLC screening, 74 (8.8%) cases were found to have beta-thalassemia trait. The age group included was from 18 years to 56 years. Of 74 cases studied, 32(43%) were females and 42(57%) were males. Among the 74 cases studied, the Mentzer index <13 was seen in 58 (78%) cases and the Mentzer index >13 was seen in 16 cases (22%). Thirty-four cases (46%) of beta-thalassemia traits presented to the hospital with a history of fever for evaluation and antenatal screening accounted for 19 cases (26%). The mean red blood cell (RBC) count was 5.5 million/cu.mm; mean corpuscular volume (MCV) was 63.8 fL; mean corpuscular hemoglobin (MCH) was 19.6 pg; red cell distribution width coefficient of variation (RDW-CV) was 17.8%. Among the 74 cases studied, 37(46%) cases had an Hb of more than 11 g/dL, 22 cases had mild anemia, 12 cases had moderate anemia, and three cases had severe anemia. Conclusion This study concluded that regular monitoring of the Mentzer index along with HPLC analysis is an effective approach in identifying beta-thalassemia trait cases and further providing genetic counseling among the couples that will help in reducing high-risk pregnancy and the birth of a child with thalassemia major.
PubMed: 38919232
DOI: 10.7759/cureus.61093 -
Acta Dermatovenerologica Alpina,... Jun 2024This study explores the immunogenetic associations of human leukocyte antigens (HLA) and the calcium release-activated calcium modulator 1 (ORAI1) and stromal...
INTRODUCTION
This study explores the immunogenetic associations of human leukocyte antigens (HLA) and the calcium release-activated calcium modulator 1 (ORAI1) and stromal interaction molecule 1 (STIM1) genes in HIV-1‒positive patients with HIV-related skin disorders.
METHODS
This study assessed the distribution of variants of HLA class II alleles and expression levels of ORAI1 and STIM1 genes in the blood between HIV-1‒positive patients with HIV-related skin disorders and the control group with no HIV within the Latvian population.
RESULTS
The research group comprised 115 HIV-1‒positive patients with HIV-related skin disorders, and the control group included 80 healthy individuals. Risk alleles (HLA- DQB1*02:01-0301 and HLA-DQA1*01:01-0501) and protective alleles (HLA-DRB1*07-13, DRB1*01-13, DRB1*04-11, and HLA-DQA1*05:01-0501) showed statistical significance in the groups. In 38 out of 115 patients, higher expression levels of ORAI1 and STIM1 genes were detected in the blood at the beginning of treatment. A significantly higher level of the microribonucleic acid (mRNA) ORAI1 gene was also found in the control group.
CONCLUSIONS
The results demonstrate that HLA class II alleles are associated with a trend toward risk/protection concerning HIV-related skin disorders in HIV-1‒positive patients. It was also shown that a low level of ORAI1 mRNA and the risk allele HLA-DQB1*0201-0301 were simultaneously present in the research group.
Topics: Humans; ORAI1 Protein; Male; Latvia; Female; Stromal Interaction Molecule 1; Adult; HIV Infections; Middle Aged; Polymorphism, Genetic; Skin Diseases; Case-Control Studies; Neoplasm Proteins; Genetic Predisposition to Disease
PubMed: 38918943
DOI: No ID Found -
ENeuro Jun 2024Typical statistical practices in the biological sciences have been increasingly called into question due to difficulties in the replication of an increasing number of...
Typical statistical practices in the biological sciences have been increasingly called into question due to difficulties in the replication of an increasing number of studies, many of which are confounded by the relative difficulty of null significance hypothesis testing designs and interpretation of p-values. Bayesian inference, representing a fundamentally different approach to hypothesis testing, is receiving renewed interest as a potential alternative or complement to traditional null significance hypothesis testing due to its ease of interpretation and explicit declarations of prior assumptions. Bayesian models are more mathematically complex than equivalent frequentist approaches, which have historically limited applications to simplified analysis cases. However, the advent of probability distribution sampling tools with exponential increases in computational power now allows for quick and robust inference under any distribution of data. Here we present a practical tutorial on the use of Bayesian inference in the context of neuroscientific studies in both rat electrophysiological and computational modeling data. We first start with an intuitive discussion of Bayes' rule and inference followed by the formulation of Bayesian-based regression and ANOVA models using data from a variety of neuroscientific studies. We show how Bayesian inference leads to easily interpretable analysis of data while providing an open-source toolbox to facilitate the use of Bayesian tools. Bayesian inference has received renewed interest as an alternative to null-significance hypothesis testing for its interpretability, ability to incorporate prior knowledge into current inference, and robust model comparison paradigms. Despite this renewed interest, discussions of Bayesian inference are often obfuscated by undue mathematical complexity and misunderstandings underlying the Bayesian inference process. In this article, we aim to empower neuroscientists to adopt Bayesian statistical inference by providing a practical methodological walkthrough using single and multi-unit recordings from the rodent auditory circuit accompanied by a well-documented and user-friendly toolkit containing regression and ANOVA statistical models commonly encountered in neuroscience.
PubMed: 38918054
DOI: 10.1523/ENEURO.0484-23.2024 -
Infection and Drug Resistance 2024To preliminarily assess the prevalence and control effect of tuberculosis and drug-resistant tuberculosis (TB) in Anhui province, and analyze the trends in the changing...
OBJECTIVE
To preliminarily assess the prevalence and control effect of tuberculosis and drug-resistant tuberculosis (TB) in Anhui province, and analyze the trends in the changing drug resistance spectrum of Mycobacterium tuberculosis (Mtb) isolated in Anhui province from 2016 to 2022.
METHODS
From 2016 to 2022, a total of 2336 culture-positive tuberculosis strains were collected from four drug resistance monitoring sites. Patient demographic information was collected and drug susceptibility testing was conducted.
RESULTS
Among the 2336 Mycobacterium tuberculosis complex strains, 1788 (76.54%) were from male patients and 548 (23.46%) were from female patients. The majority were of Han ethnicity, from rural areas, and employed in agriculture, with 12.54% (285/2273) having diabetes. A total of 1893 (81.04%) strains were sensitive to all six anti-TB drugs tested, and 443 (18.96%) strains were resistant to at least one or more anti-TB drugs. The drug resistance rate for patients undergoing initial treatment was 16.80% (348/2071), and 35.85% (95/265) for those receiving retreatment. Among the six anti-TB drugs, the resistance rates from highest to lowest were: INH (10.55%, 236/2336), SM (8.18%, 183/2336), OFX (6.53%, 146/2336), RFP (5.95%, 133/2336), EMB (2.37%, 53/2336), KM (1.97%, 44/2336). Significant differences were observed in MDR strains across different ages, types, with or without diabetes, and geographical sources (χ2=14.895,76.534,6.032,5.109, all P<0.05).
CONCLUSION
The tuberculosis prevention and control measures have controlled the drug resistance rate of Mycobacterium tuberculosis to a certain extent. However, there are still statistical differences in drug resistance rates among TB patients with different categories, age groups, regions, and diabetic diseases. Early detection and prompt treatment of patients with drug-resistant TB remain critical to controlling the spread of this disease.
PubMed: 38915321
DOI: 10.2147/IDR.S460080 -
Scientific Reports Jun 2024Musculoskeletal disorders (MSDs) impact people globally, cause occupational illness and reduce productivity. Exercise therapy is the gold standard treatment for MSDs and...
Musculoskeletal disorders (MSDs) impact people globally, cause occupational illness and reduce productivity. Exercise therapy is the gold standard treatment for MSDs and can be provided by physiotherapists and/or also via mobile apps. Apart from the obvious differences between physiotherapists and mobile apps regarding communication, empathy and physical touch, mobile apps potentially offer less personalized exercises. The use of artificial intelligence (AI) may overcome this issue by processing different pain parameters, comorbidities and patient-specific lifestyle factors and thereby enabling individually adapted exercise therapy. The aim of this study is to investigate the risks of AI-recommended strength, mobility and release exercises for people with MSDs, using physiotherapist risk assessment and retrospective consideration of patient feedback on risk and non-risk exercises. 80 patients with various MSDs received exercise recommendations from the AI-system. Physiotherapists rated exercises as risk or non-risk, based on patient information, e.g. pain intensity (NRS), pain quality, pain location, work type. The analysis of physiotherapists' agreement was based on the frequencies of mentioned risk, the percentage distribution and the Fleiss- or Cohens-Kappa. After completion of the exercises, the patients provided feedback for each exercise on an 11-point Likert scale., e.g. the feedback question for release exercises was "How did the stretch feel to you?" with the answer options ranging from "painful (0 points)" to "not noticeable (10 points)". The statistical analysis was carried out separately for the three types of exercises. For this, an independent t-test was performed. 20 physiotherapists assessed 80 patient examples, receiving a total of 944 exercises. In a three-way agreement of the physiotherapists, 0.08% of the exercises were judged as having a potential risk of increasing patients' pain. The evaluation showed 90.5% agreement, that exercises had no risk. Exercises that were considered by physiotherapists to be potentially risky for patients also received lower feedback ratings from patients. For the 'release' exercise type, risk exercises received lower feedback, indicating that the patient felt more pain (risk: 4.65 (1.88), non-risk: 5.56 (1.88)). The study shows that AI can recommend almost risk-free exercises for patients with MSDs, which is an effective way to create individualized exercise plans without putting patients at risk for higher pain intensity or discomfort. In addition, the study shows significant agreement between physiotherapists in the risk assessment of AI-recommended exercises and highlights the importance of considering individual patient perspectives for treatment planning. The extent to which other aspects of face-to-face physiotherapy, such as communication and education, provide additional benefits beyond the individualization of exercises compared to AI and app-based exercises should be further investigated.Trial registration: 30.12.2021 via OSF Registries, https://doi.org/10.17605/OSF.IO/YCNJQ .
Topics: Humans; Artificial Intelligence; Female; Male; Musculoskeletal Diseases; Adult; Middle Aged; Exercise Therapy; Risk Assessment; Retrospective Studies; Physical Therapists; Exercise; Aged; Mobile Applications
PubMed: 38914582
DOI: 10.1038/s41598-024-65016-1 -
Proceedings of the National Academy of... Jul 2024Recent years witnessed the development of powerful generative models based on flows, diffusion, or autoregressive neural networks, achieving remarkable success in...
Recent years witnessed the development of powerful generative models based on flows, diffusion, or autoregressive neural networks, achieving remarkable success in generating data from examples with applications in a broad range of areas. A theoretical analysis of the performance and understanding of the limitations of these methods remain, however, challenging. In this paper, we undertake a step in this direction by analyzing the efficiency of sampling by these methods on a class of problems with a known probability distribution and comparing it with the sampling performance of more traditional methods such as the Monte Carlo Markov chain and Langevin dynamics. We focus on a class of probability distribution widely studied in the statistical physics of disordered systems that relate to spin glasses, statistical inference, and constraint satisfaction problems. We leverage the fact that sampling via flow-based, diffusion-based, or autoregressive networks methods can be equivalently mapped to the analysis of a Bayes optimal denoising of a modified probability measure. Our findings demonstrate that these methods encounter difficulties in sampling stemming from the presence of a first-order phase transition along the algorithm's denoising path. Our conclusions go both ways: We identify regions of parameters where these methods are unable to sample efficiently, while that is possible using standard Monte Carlo or Langevin approaches. We also identify regions where the opposite happens: standard approaches are inefficient while the discussed generative methods work well.
PubMed: 38913892
DOI: 10.1073/pnas.2311810121 -
Statistics and Computing 2024The collection of data on populations of networks is becoming increasingly common, where each data point can be seen as a realisation of a network-valued random...
UNLABELLED
The collection of data on populations of networks is becoming increasingly common, where each data point can be seen as a realisation of a network-valued random variable. Moreover, each data point may be accompanied by some additional covariate information and one may be interested in assessing the effect of these covariates on network structure within the population. A canonical example is that of brain networks: a typical neuroimaging study collects one or more brain scans across multiple individuals, each of which can be modelled as a network with nodes corresponding to distinct brain regions and edges corresponding to structural or functional connections between these regions. Most statistical network models, however, were originally proposed to describe a single underlying relational structure, although recent years have seen a drive to extend these models to populations of networks. Here, we describe a model for when the outcome of interest is a network-valued random variable whose distribution is given by an exponential random graph model. To perform inference, we implement an exchange-within-Gibbs MCMC algorithm that generates samples from the doubly-intractable posterior. To illustrate this approach, we use it to assess population-level variations in networks derived from fMRI scans, enabling the inference of age- and intelligence-related differences in the topological structure of the brain's functional connectivity.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s11222-024-10446-0.
PubMed: 38911222
DOI: 10.1007/s11222-024-10446-0 -
JSLS : Journal of the Society of... 2024Haemostasis-related complications associated with Medtronic Tri-staple with preloaded buttress material and the novel, naked AEON gastrointestinal staplers have not been... (Comparative Study)
Comparative Study
BACKGROUND AND OBJECTIVES
Haemostasis-related complications associated with Medtronic Tri-staple with preloaded buttress material and the novel, naked AEON gastrointestinal staplers have not been extensively studied in bariatric surgery. The study aimed to assess and compare the 30-day haemostasis-related complications between Medtronic Tri-staple and AEON GIA staplers.
METHODS
A retrospective analysis was performed on data from patients who underwent primary or revision sleeve gastrectomy (SG) or the sleeve component of single anastomosis duodeno-ileal bypass with SG (SADI-S) in a private hospital in Australia between November 2021 and December 2022. The surgeries were performed by a single surgeon, using either Medtronic Tri-staple or AEON staplers.
RESULTS
The analysis included 250 patients, with the first 125 consecutive patients receiving staple line using the Medtronic Tri-staple GIA stapler and the subsequent 125 patients receiving staple line using the AEON GIA stapler. Statistical analysis revealed no significant differences in the distribution of surgical procedures between the Medtronic and AEON groups. In the AEON group, there were statistically higher numbers of diabetics and former tobacco users, while other preoperative characteristics did not significantly differ between the two groups. The AEON group had a significantly longer mean operative time, while the length of hospital stay was significantly shorter. No intraoperative or 30-day complications, deaths, emergency room visits, readmissions, or reoperations were observed in either group.
CONCLUSION
The novel, naked AEON stapler demonstrated non-inferiority to the established Medtronic Tri-Staple with preloaded buttress material in achieving hemostasis and maintaining staple-line integrity in bariatric surgery.
Topics: Humans; Retrospective Studies; Female; Male; Bariatric Surgery; Middle Aged; Surgical Staplers; Surgical Stapling; Adult; Obesity, Morbid; Hemostasis, Surgical; Gastrectomy; Equipment Design
PubMed: 38910956
DOI: 10.4293/JSLS.2023.00058 -
BMC Public Health Jun 2024There has been extensive research conducted on open defecation in Ethiopia, but a notable gap persists in comprehensively understanding the spatial variation and...
INTRODUCTION
There has been extensive research conducted on open defecation in Ethiopia, but a notable gap persists in comprehensively understanding the spatial variation and predictors at the household level. This study utilizes data from the 2021 Performance Monitoring for Action Ethiopia (PMA-ET) to address this gap by identifying hotspots and predictors of open defecation. Employing geographically weighted regression analysis, it goes beyond traditional models to account for spatial heterogeneity, offering a nuanced understanding of geographical variations in open defecation prevalence and its determinants. This research pinpoints hotspot areas and significant predictors, aiding policymakers and practitioners in tailoring interventions effectively. It not only fills the knowledge gap in Ethiopia but also informs global sanitation initiatives.
METHODS
The study comprised a total weighted sample of 24,747 household participants. ArcGIS version 10.7 and SaT Scan version 9.6 were used to handle mapping, hotspots, ordinary least squares, Bernoulli model analysis, and Spatial regression. Bernoulli-based model was used to analyze the purely spatial cluster detection of open defecation at the household level in Ethiopia. Ordinary Least Square (OLS) analysis and geographically weighted regression analysis were employed to assess the association between an open defecation and explanatory variables.
RESULTS
The spatial distribution of open defecation at the household level exhibited clustering (global Moran's I index value of 4.540385, coupled with a p-value of less than 0.001), with significant hotspots identified in Amhara, Afar, Harari, and parts of Dire Dawa. Spatial analysis using Kuldorff's Scan identified six clusters, with four showing statistical significance (P-value < 0.05) in Amhara, Afar, Harari, Tigray, and southwest Ethiopia. In the geographically weighted regression model, being male [coefficient = 0.87, P-value < 0.05] and having no media exposure (not watching TV or listening to the radio) [coefficient = 0.47, P-value < 0.05] emerged as statistically significant predictors of household-level open defecation in Ethiopia.
CONCLUSION
The study revealed that open defecation at the household level in Ethiopia varies across the regions, with significant hotspots identified in Amhara, Afar, Harari, and parts of Dire Dawa. Geographically weighted regression analysis highlights male participants lacking media exposure as substantial predictors of open defecation. Targeted interventions in Ethiopia should improve media exposure among males in hotspot regions, tailored sanitation programs, and region-specific awareness campaigns. Collaboration with local communities is crucial.
Topics: Ethiopia; Humans; Male; Female; Adult; Defecation; Sanitation; Middle Aged; Young Adult; Spatial Regression; Spatial Analysis; Family Characteristics; Toilet Facilities; Adolescent
PubMed: 38910246
DOI: 10.1186/s12889-024-19222-1 -
BMC Pediatrics Jun 2024Diarrhea is considered to be one of the major public health concerns in developing countries. It has a detrimental impact, reflecting one of the highest child mortality...
BACKGROUND
Diarrhea is considered to be one of the major public health concerns in developing countries. It has a detrimental impact, reflecting one of the highest child mortality rates globally, especially in Sub-Saharan Africa, where 2 out of every 10 children in Uganda under the age of five die. The objective of this study was to investigate the factors associated with time to treatment seeking by caretakers of children under-five with Diarrhea in Uganda.
METHOD
DOVE dataset of 745 caretakers in a prospective and retrospective incidence-based study using multi-stage sampling design was used in the assessment. The analysis was done using a time-to-event approach using life tables, Kaplan Meier survival analysis and multilevel proportional hazards model.
RESULTS
Kaplan-Meier survival analysis indicated the median time to seeking treatment among 745 caretakers of children under-Five after onset of diarrhea was 2 days. The multi-level proportional hazards model of a Weibull distribution showed that the estimated frailty variance was 0.13, indicating heterogeneity of treatment seeking time by caretakers of under-five children with diarrhea across regions in Uganda. Significant factors found to influence time to treatment-seeking by caretakers of children under-five with diarrhea were, male children (HR = 0.82; 95% CI = 0.71-0.95, p = 0.010), belonging to richest wealth quintile (HR = 1.37; 95% CI = 1.05-1.78, p = 0.022), and residing more than 5 km away from a health facility (HR = 0.68; 95% CI = 0.56-0.84, p = 0.000).
CONCLUSIONS
There are delays in seeking diarrhea treatment in Uganda because two days are enough to claim a life after dehydration.The policymakers should pay attention to formulate effective intervention to sensitize caregivers on the importance of early treatment-seeking behavior to avoid severe malnutrition caused by diarrhea. Community awareness program should also be encouraged particularly in areas of more than 5 km from the health facility to make people aware of the necessity to take prompt action to seek care in the early stage.
Topics: Humans; Uganda; Male; Female; Diarrhea; Infant; Child, Preschool; Caregivers; Retrospective Studies; Proportional Hazards Models; Patient Acceptance of Health Care; Prospective Studies; Time-to-Treatment; Kaplan-Meier Estimate; Adult; Multilevel Analysis
PubMed: 38909217
DOI: 10.1186/s12887-024-04879-9