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http://dx.doi.org/10.1111/dth.12759 | DOI Listing |
Lab Med
January 2025
Laboratory Department, Montauban Hospital Center, Montauban, France.
This case report describes a patient with a medical history of schizophrenia, found in a coma with hyperthermia, likely due to classic heatstroke. The white blood cells observed on the blood smear showed cytological abnormalities characterized by multilobed nuclei, which could be early signs of cell death. The evolution into multiorgan failure led rapidly to death.
View Article and Find Full Text PDFCJEM
January 2025
Department of Emergency Medicine, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Campus Benjamin Franklin, 12203, Berlin, Germany.
Am J Case Rep
January 2025
Department of Pediatric Surgery, Medical University of Warsaw, Warsaw, Poland.
BACKGROUND Perineal injuries affecting the scrotum and penis are rare in pediatric patients, owing to the protective anatomy of the male genitalia. However, when such injuries do occur, timely surgical intervention is crucial. This kind of damage might not be life-threatening but could cause functional disorders and have a huge impact on the patients' psychological condition if not treated appropriately, especially as they enter puberty.
View Article and Find Full Text PDFHum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFDysphagia
January 2025
Department of Pathology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
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