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Precision therapy for Developmental delay, Epilepsy and Neonatal Diabetes syndrome in the era of genomics.
Med J Armed Forces India
December 2024
Director & Commandant, Armed Forces Medical College, Pune, India.
Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.
View Article and Find Full Text PDFSimplifying coronary artery disease risk stratification: development and validation of a questionnaire-based alternative comparable to clinical risk tools.
EBioMedicine
January 2025
Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Background: Coronary artery disease (CAD) comprises one of the leading causes of morbidity and mortality both in the European population and globally. All established clinical risk stratification scores and models require blood lipids and physical measurements. The latest reports of the European Commission suggest that attracting health professionals to collect these data can be challenging, both from a logistic and cost perspective, which limits the usefulness of established models and makes them unsuitable for population-wide screening in resource-limited settings, i.
View Article and Find Full Text PDFHyperglycemia-induced isolated aphasic status epilepticus a case-report and literature review.
Dement Neuropsychol
December 2024
Neurological Institute of Thailand, Department of Neuroradiology, Ratchathewi, Bangkok, Thailand.
Neurological manifestations of nonketotic hyperglycemia are frequently seen, with mainly symptoms of confusion or coma. While hyperglycemia-induced seizures are less common, isolated aphasic status epilepticus is very rare, difficult to diagnose, and may be unrecognized by clinicians. In this case report, a 51-year-old man who presented with confusion and incoherent speech for two weeks is discussed.
View Article and Find Full Text PDFAcupuncture and cellular mechanisms: the role of foxo transcription factors in autophagy and senescence.
J Pak Med Assoc
December 2024
Department of Obstetrics, Shiyan Taihe Hospital Affiliated to Hubei University of Medicine, China.
The current narrative review was planned to elucidate the interplay between acupuncture, a cornerstone of Traditional Chinese Medicine, and the modulation of cellular mechanisms via Forkhead box O transcription factors, focussing on autophagy and cellular senescence. Autophagy, essential for cellular health, and cellular senescence, associated with aging and age-related diseases, are both significantly influenced by Forkhead box O transcription factors among other regulatory factors and pathways. These factors, known to diminish with age, play a pivotal role in promoting longevity.
View Article and Find Full Text PDFA prospective study of acute propranolol overdose defining dose thresholds of severe toxicity (ATOM - 9).
Clin Toxicol (Phila)
January 2025
Clinical Toxicology Research Group, University of Newcastle, Newcastle, Australia.
Introduction: Propranolol is a beta-adrenoceptor blocking drug with sodium channel-blocking properties that can cause life-threatening toxicity in overdose. Limited research defines dose thresholds of toxicity. We aimed to investigate propranolol overdose and dose thresholds for severe toxicity.
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