Congenital erythropoietic porphyria (CEP) or Gunther's disease is inherited disorder of porphyrin heme synthetic pathway that usually presents early in life. A very rare form of this disease has its onset in later years of life, called late onset erythropoietic porphyria (late onset EP). Fourteen cases of late onset EP have been reported to-date. We report another case of this rare entity in a 40 years old male with associated findings of haemolysis and thrombocytopenia.
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Int J Hematol
January 2025
Department of Hematology, Nagaoka Red Cross Hospital, 2-297-1, Senshu, Nagaoka, 940-2085, Japan.
Sinusoidal obstruction syndrome (SOS), also known as hepatic veno-occlusive disease (VOD), is a life-threatening complication of hematopoietic stem cell transplantation. In severe cases, SOS/VOD progresses to multiple organ failure with a mortality rate higher than 80%. Early diagnosis and treatment based on severity assessment improve the prognosis of severe SOS/VOD, but conventional diagnostic criteria may be insufficient for an early diagnosis.
View Article and Find Full Text PDFEye (Lond)
January 2025
Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea.
Purpose: Understanding the incidence of rare diseases is important in establishing a proper public health care system and setting target diseases in medical research. Herein, we report the 12-year cumulative incidence of seven rare ocular diseases of the retina in South Korea.
Methods: We analysed clinical records of 1,126,250 South Korean population during 2006~2019.
Acta Neuropathol Commun
January 2025
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College (PUMC) and Chinese Academy of Medical Science (CAMS), Beijing, China.
Mutations in the ANXA11 gene, encoding an RNA-binding protein, have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but the underlying in vivo mechanisms remain unclear. This study examines the clinical features of ALS patients harboring the ANXA11 hotspot mutation p.P36R, characterized by late-onset motor neuron disease and occasional multi-system involvement.
View Article and Find Full Text PDFBMC Surg
January 2025
Department of General, Visceral and Transplantation Surgery, LMU University Hospital Munich, LMU Munich, Munich, Germany.
Background: Pancreatic ductal adenocarcinoma (PDAC) typically occurs in an older patient population. Yet, early-onset pancreatic cancer (EOPC) has one of the fastest growing incidence rates. This study investigated the influence of age and tumor location on postoperative morbidity and mortality in a large, real-world dataset.
View Article and Find Full Text PDFNat Cell Biol
January 2025
Department of Biochemistry and Molecular Biology, the Institute for Medical Research Israel-Canada, the Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
The protein homeostasis (proteostasis) network encompasses a myriad of mechanisms that maintain the integrity of the proteome by controlling various biological functions, including protein folding and degradation. Alas, ageing-associated decline in the efficiency of this network enables protein aggregation and consequently the development of late-onset neurodegenerative disorders, such as Alzheimer's disease. Accordingly, the maintenance of proteostasis through late stages of life bears the promise to delay the emergence of these devastating diseases.
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