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ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case.
Virchows Arch
January 2025
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, 37044, Tours, France.
A case of cutaneous adnexal neoplasm with unusual squamoid morphology and harboring an in frame ACTB::ZMIZ2 fusion transcript was recently described. Herein, we report a second case of adnexal carcinoma harboring similar morphology and an identical in frame ACTB::ZMIZ2 fusion transcript. This 2.
View Article and Find Full Text PDFUnusual presentation of a giant recurrent inguinal hernia: a case report.
J Surg Case Rep
January 2025
University Surgery Hospital "St. Naum Ohridski", Department of Urology, 11 Oktomvri 53, 1000, Skopje, North Macedonia.
The recurrence rate of inguinal hernia is 1-10%, most often in the inguinal region, and seldom in different locations. A 72-year-old man with a large soft swelling in the right ventrolateral abdominal region without swelling in the scrotum, operated on right inguinal hernia at pediatric age. Clinical findings revealed a giant right ventrolateral hernia and abdominal CT showed weakness of the abdominal wall with a 25 cm long hernial sac with an apex under the right costal arch and a base at the deep inguinal opening, that was diagnosed as a recurrent inguinal hernia with unusual presentation.
View Article and Find Full Text PDFA Y-shaped sphenoidal sinus septum: a case report.
Anat Cell Biol
January 2025
Department of Neurosurgery, Tulane Center for Clinical Neurosciences, Tulane University School of Medicine, New Orleans, LA, USA.
The sphenoidal sinus septum is one of the most important landmarks during endonasal endoscopic transsphe-noidal operations. During routine coronal sectioning of the face, we found a variant Y-shaped septum in the sphenoidal sinus of a female cadaver. This unusual septum was found between two sections (anterior and posterior sections) and located inferior to the pituitary gland.
View Article and Find Full Text PDFGoing to extremes: progress in exploring new environments for novel antibiotics.
NPJ Antimicrob Resist
March 2024
Institute of Life Sciences, Medical School, Swansea University, Singleton Park, Swansea, SA2 8PP, Wales, UK.
The discoveries of penicillin and streptomycin were pivotal for infection control with the knowledge subsequently being used to enable the discovery of many other antibiotics currently used in clinical practice. These valuable compounds are generally derived from mesophilic soil microorganisms, predominantly Streptomyces species. Unfortunately, problems with the replication of results suggested that this discovery strategy was no longer viable, motivating a switch to combinatorial chemistry in conjunction with existing screening programmes to derive new antimicrobials.
View Article and Find Full Text PDF'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
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