JMASM 52: Extremely Efficient Permutation and Bootstrap Hypothesis Tests Using R

Re-sampling based statistical tests are known to be computationally heavy, but reliable when small sample sizes are available. Despite their nice theoretical properties not much effort has been put to make them efficient. Computationally efficient method for calculating permutation-based p-values for the Pearson correlation coefficient and two independent samples t-test are proposed. The method is general and can be applied to other similar two sample mean or two mean vectors cases

Diagnosing attention-deficit hyperactivity disorder (ADHD) using artificial intelligence: a clinical study in the UK

Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder affecting a large percentage of the adult population. A series of ongoing efforts has led to the development of a hybrid AI algorithm (a combination of a machine learning model and a knowledge-based model) for assisting adult ADHD diagnosis, and its clinical trial currently operating in the largest National Health Service (NHS) for adults with ADHD in the UK. Most recently, more data was made available that has lead to a total collection of 501 anonymized records as of 2022 July. This prompted the ongoing research to carefully examine the model by retraining and optimizing the machine learning algorithm in order to update the model with better generalization capability. Based on the large data collection so far, this paper also pilots a study to examine the effectiveness of variables other than the Diagnostic Interview for ADHD in adults (DIVA) assessment, which adds considerable cost in the screenining process as it relies on specially trained senior clinicians. Results reported in this paper demonstrate that the newly trained machine learning model reaches an accuracy of 75.03% when all features are used; the hybrid model obtains an accuracy of 93.61%. Exceeding what clinical experts expected in the absence of DIVA, achieving an accuracy of 65.27% using a rule-based machine learning model alone encourages the development of a cost effective model in the future

Cardiovascular risk factors among 3712 Greek seafarers

Background: Global concern on seafarers’ health and its potential cost is widely evident across the shipping industry. Seafarers are at increased cardiovascular risk since it is common to have risk factors associated with that risk such as hyperlipidaemia, obesity and smoking. The aim of this study is to assess the prevalence of the main risk factors for cardiovascular disease (CVD), i.e. hyperlipidaemia, smoking and obesity, in Greek seafarers.Materials and methods: During pre-embarkation medical examination, seafarers undergo an interview with a physician, physical examination and laboratory tests. The parameters studied included hyperlipidaemia, identified as low density lipoprotein > 150 mg/dL, tobacco use or severe obesity, as defined by body mass index > 35 kg/m2.Results: A total of 3712 seafarers have been examined. Seafarers had overall rates of 3% hyperlipidaemia, 4% tobacco use and 0.2% severe obesity, with similar distributions in all age groups. Our study shows that Greek seafarers have lower risk for CVD, as low rates of obesity, tobacco use, and hyperlipidaemia are observed. The related literature is discussed. Unhealthy eating patterns are the rule and contribute to CVD. Shipping management could improve diet on board; however, smoking falls rather under individual control. Conclusions: We conclude that, despite the low rates of hyperlipidaemia, smoking and obesity among Greek seafarers compared to other nations, campaigns for promoting awareness of the phenomenon and on the potential health impact of these conditions should be promoted

Advancements and progress in juvenile idiopathic arthritis: A Review of pathophysiology and treatment

Juvenile idiopathic arthritis (JIA) is a chronic clinical condition characterized by arthritic features in children under the age of 16, with at least 6 weeks of active symptoms. The etiology of JIA remains unknown, and it is associated with prolonged synovial inflammation and structural joint damage influenced by environmental and genetic factors. This review aims to enhance the understanding of JIA by comprehensively analyzing relevant literature. The focus lies on current diagnostic and therapeutic approaches and investigations into the pathoaetiologies using diverse research modalities, including in vivo animal models and large-scale genome-wide studies. We aim to elucidate the multifactorial nature of JIA with a strong focus towards genetic predilection, while proposing potential strategies to improve therapeutic outcomes and enhance diagnostic risk stratification in light of recent advancements. This review underscores the need for further research due to the idiopathic nature of JIA, its heterogeneous phenotype, and the challenges associated with biomarkers and diagnostic criteria. Ultimately, this contribution seeks to advance the knowledge and promote effective management strategies in JIA

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter

Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin (HBG1 and HBG2) genes. In this paper, we report a novel type of nd-HPFH due to a HBG2 gene promoter mutation (HBG2:g.-109G>T). This mutation, located at the 3′ end of the HBG2 distal CCAAT box, was initially identified in an adult female subject of Central Greek origin and results in elevated Hb F levels (4.1%) and significantly increased Gγ-globin chain production (79.2%). Family studies and DNA analysis revealed that the HBG2:g.-109G>T mutation is also found in the family members in compound heterozygosity with the HBG2:g.-158C>T single nucleotide polymorphism or the silent HBB:g.-101C>T β-thalassemia mutation, resulting in the latter case in significantly elevated Hb F levels (14.3%). Electrophoretic mobility shift analysis revealed that the HBG2:g.-109G>T mutation abolishes a transcription factor binding site, consistent with previous observations using DNA footprinting analysis, suggesting that guanine at position HBG2/1:g.-109 is critical for NF-E3 binding. These data suggest that the HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the HPFH phenotype observed in our index cases

A reflection of Africa's cardiac surgery capacity to manage congenital heart defects: a perspective

Congenital heart defects (CHDs) are birth abnormalities that may drastically alter the structure and functionality of the heart. For 70% of infants with congenital disorders to survive or maintain a better quality of life, surgery is necessary. Over 500 000 of the 1.5 million CHD cases reported annually, or 1% of all live births, occur in Africa, according to the WHO. A surmounted 90% of these patients are from Africa, and as a consequence, 300 000 infants die annually as a result of poor care or difficulty accessing adequate healthcare. However, the high prevalence of CHDs, precipitated by a plethora of aetiologies worldwide, is particularly pronounced in Africa due to maternal infectious diseases like syphilis and rubella amongst the pregnant populace. In low- and middle-income countries, especially in Africa, where foreign missions and organizations care for the majority of complicated cardiac surgical patients, access to secure and affordable cardiac surgical therapy is a substantial issue. Interventions for CHDs are very expensive in Africa as many of the continent’s domiciles possess low expenditures and funding, thereby cannot afford the costs indicated by associated surgical treatments. Access to management and healthcare for CHDs is further hampered by a lack of trained surgical personnel, specialized tools, infrastructure, and diagnostic facilities in Africa

Advancements and progress in juvenile idiopathic arthritis: A Review of pathophysiology and treatment.

Juvenile idiopathic arthritis (JIA) is a chronic clinical condition characterized by arthritic features in children under the age of 16, with at least 6 weeks of active symptoms. The etiology of JIA remains unknown, and it is associated with prolonged synovial inflammation and structural joint damage influenced by environmental and genetic factors. This review aims to enhance the understanding of JIA by comprehensively analyzing relevant literature. The focus lies on current diagnostic and therapeutic approaches and investigations into the pathoaetiologies using diverse research modalities, including in vivo animal models and large-scale genome-wide studies. We aim to elucidate the multifactorial nature of JIA with a strong focus towards genetic predilection, while proposing potential strategies to improve therapeutic outcomes and enhance diagnostic risk stratification in light of recent advancements. This review underscores the need for further research due to the idiopathic nature of JIA, its heterogeneous phenotype, and the challenges associated with biomarkers and diagnostic criteria. Ultimately, this contribution seeks to advance the knowledge and promote effective management strategies in JIA