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| http://dx.doi.org/10.1136/bcr.05.2010.3022 | DOI Listing |
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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 PDFA rare pediatric case of type III congenital paraesophageal hiatal hernia with infantile hypertrophic pyloric stenosis: A case report.
Int J Surg Case Rep
January 2025
Department of Public Health and Infectious Diseases, Faculty of Medicine, Herat University, Herat, Afghanistan; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada.
Introduction: This case report presents a rare occurrence of Type III Congenital Paraesophageal Hiatal Hernia (CPEHH) with Infantile Hypertrophic Pyloric Stenosis (IHPS) in a 28-day-old neonate. However, this unusual combination poses significant diagnostic and surgical challenges.
Presentation Of Case: A 28-day-old male presented with respiratory distress and persistent vomiting.
An Atypical Case of Neonatal Alloimmune Thrombocytopenia.
J Pediatr Hematol Oncol
January 2025
Departments of Laboratory Medicine.
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) results from maternal antibodies targeting fetal platelets during pregnancy, often causing hemorrhagic manifestations detectable antenatally or shortly after birth. We report an atypical form of FNAIT with delayed onset in a healthy, breastfed male infant who developed diffuse petechiae 2 weeks after birth due to severe thrombocytopenia. The mother was shown to be negative for the human platelet antigen-1a (HPA-1a) allele but had anti-HPA-1a IgG antibodies, while the father and newborn were HPA-1a positive, confirming the diagnosis.
View Article and Find Full Text PDFPregnancy Complicated by Rapidly Progressing Vulvar Melanoma: A Case Study.
Am J Case Rep
January 2025
Department of Anatomical Pathology, Jenderal Soedirman University, Purwokerto, Central Java, Indonesia.
BACKGROUND Vulvar melanoma during pregnancy is exceptionally rare. Hormonal and immunological changes in pregnancy have raised concerns about the potential for accelerated melanoma progression and poorer maternal outcomes. This case report describes an unusual presentation of vulvar melanoma in a pregnant patient, which rapidly progressed despite previous treatments, but resulted in a favorable fetal outcome.
View Article and Find Full Text PDFUnlabelled: Transmesenteric hernia is an internal hernia without a sac caused by a congenital defect of the mesentery. It is a rare cause of intestinal atresia, usually diagnosed intraoperatively, therefore, its prognosis is variable and may be associated with high morbidity and mortality.
Objective: To report a case of transmesenteric hernia with multiple intestinal atresia of late diagnosis.
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