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Brain calcification in Congenital Heart Defects and Ectodermal Dysplasia (CHDED).
Eur J Med Genet
December 2024
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Congenital Heart Defect and Ectodermal Dysplasia (CHDED) is an autosomal dominant disorder caused by the PRKD1 gene. CHDED is characterized by heart defects and ectodermal dysplasia. To date, eight patients with CHDED have been described.
View Article and Find Full Text PDFEvaluation of Socio-Demographic Profile, Biochemical Parameters and Etiology of End Stage Renal Disease Patients in a Tertiary Care Hospital of Bangladesh.
Mymensingh Med J
January 2025
Dr Suhel Rana Khan, Dialysis Medical Officer, Department of Nephrology, Mymensingh Medical College Hospital, Mymensingh, Bangladesh; E-mail:
Globally the incidence and prevalence of chronic kidney disease (CKD) is increasing day by day. Various biochemical and hematological abnormalities are associated with CKD that leads to morbidity and mortality. The aim of this observational study was to evaluate the socio-demographic profile, biochemical and hematological parameters of chronic kidney disease patients in Mymensingh Medical College Hospital, Mymensingh, Bangladesh from January 2020 to December 2020.
View Article and Find Full Text PDFInsights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.
FEBS Lett
December 2024
Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.
Hermansky-Pudlak syndrome type 1 (HPS-1) is a rare, autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles complex-3 (BLOC-3). Impaired kidney function is among its clinical manifestations. To investigate HPS-1 renal involvement, we employed 1D-gel-LC-MS/MS and compared the protein composition of urinary extracellular vesicles (uEVs) from HPS-1 patients to normal control individuals.
View Article and Find Full Text PDFDistinct gut microbial signature and altered short chain fatty acid metabolism at disease onset in a rat preclinical model of superimposed preeclampsia.
Sci Rep
December 2024
Laboratorio de Medicina Experimental, Hospital Alemán, Av. Pueyrredón 1640, C1118AAT, Ciudad Autónoma de Buenos Aires, Argentina.
Chronic hypertension is an increasingly prevalent condition that constitutes a risk factor for superimposed preeclampsia during pregnancy. In this study, we assessed the gut microbiome in a rat model of superimposed preeclampsia to characterize the microbial signature associated with defective placentation processes identified at the preclinical disease stage. The blood pressure profile, renal function parameters and fetal phenotype were evaluated in pregnant Stroke-prone Spontaneously Hypertensive Rats (SHRSP) and their normotensive controls.
View Article and Find Full Text PDFA Case Study of Aberrant Aortic Origin of the Right Coronary Artery.
Discoveries (Craiova)
March 2024
Interventional Cardiologist, Apollo Hospitals Chennai Greams Road, India.
This case report examines a rare cardiovascular abnormality, the Aberrant Aortic Origin of the Right Coronary Artery (AAORCA), in a 75-year-old patient with a history of myocardial infarction, acute renal injury, and cardiogenic shock. Rapid medical intervention, including coronary angioplasty, demonstrated the significance of prompt care. Chronic issues, including tobacco use and left ventricular dysfunction, complicated matters, emphasizing the importance of comprehensive long- term therapy.
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