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Clonal haematopoiesis of indeterminate potential and risk of microvascular complications among individuals with type 2 diabetes: a cohort study.
Diabetes
January 2025
Department of Big Data in Health Science, Zhejiang University School of Public Health and Department of Psychiatry, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Clonal haematopoiesis of indeterminate potential (CHIP) is associated with macrovascular diseases, including coronary artery disease and stroke. However, the effects of CHIP on microvascular complication have not been evaluated in individuals with type 2 diabetes (T2D). This study included 20,712 T2D participants without prevalent diabetic microvascular complication (DMCs) and hematologic malignancy at baseline.
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Taiwan J Ophthalmol
December 2024
Singapore National Eye Centre, Singapore Eye Research Institute, Singapore.
Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.
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Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness.
View Article and Find Full Text PDFChondrodysplasia Punctata: Early Diagnosis and Multidisciplinary Management of Conradi-Hünermann-Happle Syndrome (CDPX2).
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Physical Medicine and Rehabilitation, Unidade Local de Saúde de Lisboa Ocidental, Lisbon, PRT.
Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging.
View Article and Find Full Text PDFRare DDX3X Gene Mutation in a Male Newborn With Super-refractory Status Epilepticus Responding to Lacosamide Drug Therapy.
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Pediatric Neurology, Bahrain Defence Force Hospital, Riffa, BHR.
Super-refractory status epilepticus (SRSE) is defined as status epilepticus that persists or recurs after treatment with anesthetic agents for more than 24 hours, including cases with recurrent seizures on reduction or withdrawal of anesthetic drugs. Super-refractory status epilepticus presents a significant challenge for neurologists, particularly when standard treatments fail to achieve seizure control. Lacosamide, which has a unique mechanism involving modulating voltage-gated sodium channels by enhancing their slow inactivation, has emerged as a potential option for managing SRSE.
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