Shivani Singh

VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome) is a more recently described, acquired somatic mutation in the UBA1 gene, and is an autoinflammatory disorder of adults. Its clinical features include systemic inflammation, clonal hematopoiesis, abnormalities of the bone marrow and various hematological, rheumatological and dermatologic changes. This review discusses the molecular pathogenesis of VEXAS syndrome with emphasis on the UBA1 mutations, immune dysfunction and disease pathogenesis. In addition, it emphasizes the importance of artificial intelligence, next generation sequencing (NGS), integration of multi-omics and three-dimensional (3D) genomic fingerprinting in the improvement of diagnosis and molecular characterization. The current therapeutic options such as the use of corticosteroids, JAK inhibitors, azacitidine and biologic agents, as well as novel stem cell-based therapies are reviewed. Special focus is on the most promising potentially curative therapy, namely, allogeneic hematopoietic stem cell transplantation (HSCT). Although genomic medicine and precision diagnostics has come a long way, there are still issues to be addressed, particularly with respect to diagnosis at an early stage and longer-term management. The synergy of genomics, artificial intelligence (AI), and regenerative medicine could have a profound impact on the care of VEXAS syndrome patients in the future.

Lassa fever and septic fever are important infectious diseases which cause high morbidity, mortality and healthcare burden, especially in resource-limited areas. The clinical features of both diseases are so similar, and include fever, hypotension, respiratory failure, and multi-organ failure, that early diagnosis and treatment are challenging. The clinical features, epidemiological features, risk factors, early clinical predictors and biomarkers of disease severity and mortality are analyzed. Prognosis assessment and therapeutic monitoring is an important role of a number of biomarkers, such as lactate, procalcitonin, cystatin-C, and inflammatory cytokines. The review also notes that artificial intelligence, machine learning, 3D imaging technologies and epidemiological surveillance systems are increasingly playing a key role in the prediction, monitoring and clinical decision-making of diseases. The combination of biomarker-based diagnostics, AI-driven predictive modelling, and digital healthcare technologies could greatly enhance the management of infectious diseases and the preparedness of healthcare systems. The multidisciplinary research and international co-operation continue to be critical to decrease the global burden of severe infectious diseases.

Liquid biopsy using circulating tumor DNA (ctDNA) is gaining momentum as a powerful non-invasive tool for multi-cancer early detection (MCED) and precision medicine. The current paper highlights the role of artificial intelligence (AI), encompassing machine learning and deep learning techniques, in refining the analytical process of ctDNA to facilitate early cancer detection, diagnosis, prediction of the tissue of origin, and individualized disease management. Clinical trials in humans for various cancers, such as lung, colorectal, pancreatic, breast, and ovarian cancer, illustrate the ability of AI-enhanced ctDNA technology to detect even minute molecular changes in terms of mutations, epigenetic patterns, fragmentation features, and chromosome anomalies with higher sensitivity and specificity. In addition, the review highlights the biological relevance of ctDNA, the clinical utility of AI-based MCED systems, and the benefits of non-invasive testing, continuous surveillance, and detection of multiple cancers through a single blood sample. However, significant drawbacks, including low ctDNA concentration in early-stage tumors, false positives and negatives, non-standardization, ethical issues, and expensive technology, are substantial impediments to clinical adoption. Nonetheless, AI-powered ctDNA diagnostics hold immense promise for revolutionizing cancer screening in the future.

The fusion of graphene neural interfaces with adaptive artificial intelligence (AI) systems has become a critical breakthrough in human-centred human-centred neurotechnologies and personalised healthcare. Graphene has an outstanding electrical conductivity, flexibility, transparency, light architecture and biocompatibility, making it an ideal material for wearable and implantable neural devices. At the same time, artificial intelligence systems that adapt their performance benefit the interpretation of the neural signals, learning in real time, signal recognition, and performance of rehabilitation. This review covers the structural and functional characteristics of graphene neural interfaces, adaptive AI in neural signal processing, and the synergy and application of both to brain–computer interfaces (BCIs), neuroprosthetics, assistive communication systems, and personalized neurotherapy. Humans studies show that graphene-AI systems have boosted the stability of neural signals, motor control, speech decoding and rehabilitation efficiency, as well as neural monitoring and remote healthcare. The review also covers critical issues like long-term biocompatibility, privacy of neural data, algorithmic transparency, cybersecurity, and regulatory approval. While small-scale clinical trials and the absence of standardized frameworks pose challenges, the potential applications of graphene-AI combination in neurological rehabilitation and intelligent healthcare systems are promising.

Critical Congenital Heart Disease (CHD) is one of the most important causes of neonatal morbidity and mortality and early prenatal diagnosis is essential for effective treatment and better clinical outcomes. In this study, ECHOFOCUS-CHD, an AI-inspired autonomous framework for the diagnosis of Critical Congenital Heart Disease from ultrasound images of fetuses is proposed. A quantitative experimental research design was used and 200 prenatal ultrasound scans acquired from hospitals and fetal echocardiography databases are used. A Convolutional Neural Network (CNN) was created to classify fetal cardiac conditions into normal, mild, moderate and critical CHD categories. The models are enhanced by using image preprocessing methods like noise reduction, normalization, contrast enhancement, and data augmentation. An overall accuracy of 94.5%, sensitivity of 92.8%, specificity of 95.6% with an AUC value of 0.96% was obtained, which shows an excellent diagnostic capability in the proposed system. The reliability of the framework was also verified using confusion matrix and ROC curve analyses. The system was also able to automatically classify the heart defects of foals using images from their prenatal scans, aiding clinical decisions during pregnancy and early treatment planning. The results show that AI-powered prenatal ultrasound analysis has the potential to greatly improve the effectiveness of early detection of CHD and prenatal screening.

Sudden stillbirth still poses as one of the key challenges in maternal and fetus care, especially in developing nations where sophisticated labor ward monitoring systems cannot be afforded. It becomes very challenging to detect a pregnancy at risk early due to the combination of several risk factors related to both mother and the fetus. This paper presents the design of a Human-in-the-Loop Explainable Artificial Intelligence (XA)I-based predictive labor ward model to help detect composite risks related to sudden stillbirth. For this, the research considers clinical records on 90 pregnant mothers and then utilizes machine learning (ML) models such as Logistic Regression, Random Forest, and XGBoost for predictions. XAI algorithms are utilized to enhance transparency, interpretability, and clinician understanding of predictive results. It is found that the highest prediction accuracy can be achieved by usinsg the XGBoost-XAI method, which is superior to traditional approaches. Hypertension in mother, fetal distress, placental inefficiency, gestational diabetes, and prolonged labor are some of the most significant predictors of sudden stillbirth. The Human-in-the-Loop concept makes it more reliable.

Brain-Computer Interfaces (BCIs) have been proposed as assistive technologies for Locked-In Syndrome (LIS) patients that can facilitate communication based on decoding of neural signals. Traditional BCI systems based on recurrent neural network (RNN) models exhibit certain constraints in terms of decoding accuracy, communication speed, and response latency. The current study aims to assess the effectiveness of transformer-based frameworks in optimizing the efficiency of both invasive and non-invasive BCI systems as compared to classical RNN models. A computational-clinical study design was used which involved participation of 48 LIS or severely paralysed participants. Subjects were grouped in accordance with their involvement in invasive or non-invasive BCI groups, and assessments were conducted during a period of eight weeks of intervention. Neural activity data processing was done with the help of two different approaches, including transformer-based model application and RNN application, assessing communication speed, decoding accuracy, latency, and error rates of both systems. Results suggest that transformer-based neural decoding frameworks proved to be superior to RNNs in terms of all evaluated criteria. Invasive transformer-based BCI demonstrated the best results concerning communication speed, decoding accuracy, lowest latency, and lowest error rates. Non-invasive transformer BCIs also yielded better results than RNN-based BCIs.

Conjoined twinning is a very rare congenital disorder that results from partial separation during the development of the embryos in cases of monozygotic twins. Male-female symmetrical conjoined twins with an opposite phenotype in relation to their biological sex are an extremely rare developmental abnormality due to the complications involved, from an embryological, genetic, hormonal, clinical, and ethical standpoint. In this review, we discuss the embryological causes of conjoined twinning, sexual differentiation processes, and the potential causes of discordant phenotypical sex development through chromosomal mosaicism, epigenetics, asymmetry of hormone distribution, or receptors. Furthermore, Disorders of Sex Development (DSD), prenatal diagnosis and molecular analyses, psychosocial impacts, surgery, and ethical issues related to sexual discordance among conjoined twins are evaluated. Our current scientific knowledge is limited since such cases are extremely rare.

The current research study explored the physiological and psychological shifts that take place in the bodies of transgender men and transgender women on undergoing hormone therapy. A quantitative comparative study design was employed involving 120 individuals – 60 transgender men on testosterone therapy and 60 transgender women on estrogen and anti-androgen therapy over a period of one year. The study involved data collection using methods such as anthropometry, hormonal profiling, laboratory testing, cardiovascular examination, and psychosocial measures. The results showed marked physiological transformations in the form of increased muscle mass and elevated hemoglobin content among transgender men, and increased body fat accumulation and breast growth and decreased muscle mass among transgender women. In addition, there were certain effects noted on the metabolism and cardiovascular system as a result of hormone therapy. The psychological effects included better emotional well-being, improved body image and self-esteem, and lower levels of anxiety and depression.

Human-Robot Interaction (HRI) has become an essential area that combines AI, robotics, affective computing, and healthcare technologies. This study considers the application of artificial intelligence (AI) in managing emotional connections, multisensory interaction, and psychological support in robot-led pregnancy systems. This article focuses on emotional recognition systems, multisensory communication, biosensors, adaptive robotics, ethical questions, social acceptance issues, and future advancements in maternal healthcare robotics. There is existing evidence suggesting that the use of emotionally intelligent robot systems may help improve maternal mental state, minimize the negative effects of stress and anxiety, increase engagement in healthcare processes, and give individualized assistance during pregnancy. Machine learning (ML) techniques, natural language processing, affective computing, and physiological sensors play a major role in enhancing the emotional intelligence of robotic healthcare technologies. At the same time, there are some difficulties related to the authenticity of emotions, privacy issues, emotional dependence, biased algorithms, and other ethical concerns that restrict their application. Overall, robot-led pregnancy systems demonstrate great potential as maternal healthcare technology solutions.