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The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFPeripheral Axonal Neuropathy in Hemophagocytic Lymphohistiocytosis Secondary to Rickettsia conorii Infection.
Cureus
December 2024
Internal Medicine, Centro Hospitalar e Universitário de Coimbra, Coimbra, PRT.
Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal hyperinflammatory syndrome characterized by dysregulated immune activation and systemic inflammation. Secondary HLH is often triggered by infections, with being an infrequently reported cause. Peripheral axonal neuropathy is a rare and poorly understood complication of HLH.
View Article and Find Full Text PDFRare association of posterior reversible encephalopathy syndrome (PRES) with hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome - A case report and review of the literature.
Heliyon
December 2024
Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Introduction: The hemolysis-elevated liver enzymes-low platelet counts (HELLP) syndrome and posterior reversible encephalopathy syndrome (PRES) are rare conditions that can complicate pregnancy and the early postpartum period. Although both are closely related to hypertensive pregnancy disorders, their association is rarely described, so the outcome of these patients remains unknown. We present a case report of PRES associated with HELLP syndrome and a review of all previously published cases, including demographic characteristics, clinical presentation, treatment, and outcome.
View Article and Find Full Text PDFMetastatic Neuroblastoma Masquerading as Ewing's Sarcoma on X-ray: An Imaging Puzzle in Pediatric Oncology.
J Orthop Case Rep
January 2025
Department of Pathology, All India Institute of Medical Sciences Bhopal, Bhopal, Madhya Pradesh, India.
Introduction: Neuroblastoma is an embryonic tumor of the peripheral sympathetic nervous system. It is the most common extracranial solid tumor of childhood and accounts for up to 15% of all pediatric cancer fatalities. The manifestation of neuroblastoma is variable depending on the location of the tumor and the presence or absence of paraneoplastic syndromes.
View Article and Find Full Text PDFHaemophagocytic lymphohistiocytosis in pregnancy.
Trop Doct
January 2025
Consultant Intensivist, Department of Intensive Care, Yashoda Hospitals, Somajiguda, Hyderabad, Telangana, India.
Dengue infection is emerging as one of the most common tropical diseases globally. It manifests in varying severity from asymptomatic to the most severe forms of the disease, characterized by coagulopathy, increased vascular fragility, and permeability (dengue haemorrhagic fever) that may progress to hypovolaemic shock (dengue shock syndrome). For atypical manifestations, a new terminology known as expanded dengue syndrome (EDS) was introduced.
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