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M&M: an RNA-seq based pan-cancer classifier for paediatric tumours.
EBioMedicine
December 2024
Princess Máxima Center for Paediatric Oncology, Utrecht, the Netherlands. Electronic address:
Background: With many rare tumour types, acquiring the correct diagnosis is a challenging but crucial process in paediatric oncology. Historically, this is done based on histology and morphology of the disease. However, advances in genome wide profiling techniques such as RNA sequencing now allow the development of molecular classification tools.
View Article and Find Full Text PDFCoagulopathy in acute liver failure.
Best Pract Res Clin Gastroenterol
December 2024
Department of Hepatology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:
Acute liver failure (ALF) is a rare but rapidly progressing syndrome, marked by severe liver dysfunction and altered mental status. While definitions of ALF vary across different guidelines, with timelines ranging from 4 to 26 weeks between jaundice onset and encephalopathy, the key defining features remain encephalopathy and coagulopathy. Elevated coagulation markers, particularly prothrombin time and international normalized ratio, have traditionally been associated with bleeding risks.
View Article and Find Full Text PDFPrognostic factors and impact of management strategies for status epilepticus: The STEPPER study in the Emilia-Romagna region, Italy.
Epilepsia
December 2024
IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of the European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.
Objective: The STEPPER (Status Epilepticus in Emilia-Romagna) study aimed to investigate the clinical characteristics, prognostic factors, and treatment approaches of status epilepticus (SE) in adults of the Emilia-Romagna region (ERR), Northern Italy.
Methods: STEPPER, an observational, prospective, multicentric cohort study, was conducted across neurology units, emergency departments, and intensive care units of the ERR over 24 months (October 2019-October 2021), encompassing incident cases of SE. Patients were followed up for 30 days.
Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.
Orphanet J Rare Dis
December 2024
Department of Burns and Plastic Surgery, University Hospital Brno, Jihlavska 20, Brno, 62500, Czech Republic.
Background: Ring 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. One possible symptom associated with this condition is an orofacial cleft. However, to date, there are very few reported cases where the cleft has been surgically treated.
View Article and Find Full Text PDFAuthor Correction: Performance prediction of sintered NdFeB magnet using multi-head attention regression models.
Sci Rep
December 2024
Department of Physics, Ganjiang Innovation Academy, Chinese Academy of Sciences, Ganzhou, 341119, China.
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