Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.

AI predicting recurrence in non-muscle-invasive bladder cancer: systematic review with study strengths and weaknesses.

Background: Non-muscle-invasive Bladder Cancer (NMIBC) is notorious for its high recurrence rate of 70-80%, imposing a significant human burden and making it one of the costliest cancers to manage. Current prediction tools for NMIBC recurrence rely on scoring systems that often overestimate risk and lack accuracy. Machine learning (ML) and artificial intelligence (AI) are transforming oncological urology by leveraging molecular and clinical data to enhance predictive precision.

Global distribution and sustainable management of Asian corn borer (ACB), (Lepidoptera: Crambidae): recent advancement and future prospects.

The Asian corn borer (ACB), (Guenée, 1854), is a serious pest of several crops, particularly a destructive pest of maize and other cereals throughout most of Asia, including China, the Philippines, Indonesia, Malaysia, Thailand, Sri Lanka, India, Bangladesh, Japan, Korea, Vietnam, Laos, Myanmar, Afghanistan, Pakistan and Cambodia. It has long been known as a pest in South-east Asia and has invaded other parts of Asia, Solomon Islands, parts of Africa and certain regions of Australia and Russia. Consequently, worldwide efforts have been increased to ensure new control strategies for management.

Mpox and the men who have sex with men (MSM) community in Nigeria: Exploratory insights from MSM and persons providing healthcare services to them.

The current mpox outbreak has challenged previous understanding of the disease, with human-to-human transmission being a significant mode of transmission, particularly among gay, bisexual, and other men who have sex with men (GBMSM). A knowledge gap exists on MSM's mpox experiences in Nigeria's restrictive sociolegal context. This study explored mpox awareness, knowledge, and experiences among MSM in Lagos, Nigeria, through 28 in-depth interviews.

ChatGPT-Assisted Machine Learning for Chronic Disease Classification and Prediction: A Developmental and Validation Study.

Background Chronic diseases such as chronic kidney disease (CKD), chronic liver disease (CLD), tuberculosis (TB), dementia, and heart disease are global health concerns of significant importance, representing major causes of morbidity and mortality worldwide. Early diagnosis and interventions are critical to improve patient outcomes and reduce healthcare costs. Methods This prospective observational study analyzed clinical data from 270 patients (calculated using G*Power 3.