Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.
View Article and Find Full Text PDFCardiac amyloidosis is a rare but increasingly recognized cause of heart failure, often underdiagnosed until later stages of the disease. This report describes a case of transthyretin amyloidosis (ATTR) in a 68-year-old male patient with a significant medical history of rheumatoid arthritis (RA), a combination seldom documented in the literature. The patient presented with progressive symptoms of heart failure, and diagnostic testing confirmed ATTR cardiac amyloidosis through pyrophosphate (PYP) scanning.
View Article and Find Full Text PDFGlob Public Health
December 2025
From both an academic and a policy angle, menstruation is receiving an unprecedented level of attention. Within the academic literature, there are many different normative arguments being furthered for how menstruation be understood and framed - variously, that it should be understood as an issue of rights, justice, health or hygiene management. Yet less attention has been paid to the step preceding these normative arguments - how menstruation actually understood at present within global health policy.
View Article and Find Full Text PDFPrimary cutaneous amoebiasis is rare, and typically affects immunocompromised patients and presents with unique clinical and histopathologic changes. Untreated, the infection could progress to involve the central nervous system, which is almost universally fatal. We present a case of primary cutaneous acanthamoebiasis in a patient with chronic lymphocytic leukemia on acalabrutinib.
View Article and Find Full Text PDFBackground: Post-hemorrhagic hydrocephalus (PHH) is a severe complication in premature infants following intraventricular hemorrhage (IVH). It is characterized by abnormal cerebrospinal fluid (CSF) accumulation, disrupted CSF dynamics, and elevated intracranial pressure (ICP), leading to significant neurological impairments.
Objective: This review provides an overview of recent molecular insights into the pathophysiology of PHH and evaluates emerging therapeutic approaches aimed at addressing its underlying mechanisms.
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