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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.
Blood
January 2025
Division of Immunology and Allergy, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine; Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.
View Article and Find Full Text PDFAbdominal lymphangioleiomyomatosis in a man presenting with gastrointestinal hemorrhage as the first manifestation: a case report.
Front Med (Lausanne)
December 2024
Department of Gastroenterology, The First Affiliated Hospital of Dali University, Dali, Yunnan, China.
Lymphangioleiomyomatosis (LAM) is a rare, low-grade malignant condition that typically affects women of childbearing age and primarily involves the lungs. While cases involving males and affecting the gastrointestinal tract are exceedingly uncommon. This report discusses an unusual case of abdominal LAM in a male patient with gastrointestinal hemorrhage.
View Article and Find Full Text PDFPotential benefits of intraoperative parathyroid autofluorescence imaging in a patient with multiple endocrine neoplasia type 1 and hyperparathyroidism - A case report.
Int J Surg Case Rep
January 2025
Department of Otorhinolaryngology, Aarhus University Hospital, Aarhus N, Denmark.
Introduction And Importance: Primary hyperparathyroidism (PHPT) is a frequent complication to multiple endocrine neoplasia type 1 (MEN1), presenting challenges due to increased risk of multi-gland disease and recurrence post parathyroidectomy (PTX). This case report examines the management of PHPT in a MEN1 patient, emphasizing possible benefits from intraoperative parathyroid autofluorescence imaging (AF).
Case Presentation: A 21-year-old woman with MEN1 presented with mild hyperparathyroidism symptoms in 2014.
Awake Craniotomy for Eloquent Brain Arteriovenous Malformations: A Systematic Review and Individual Patient Data Meta-Analysis.
World Neurosurg
December 2024
Department of Neurosurgery, University of São Paulo, São Paulo, Brazil.
Background: Arteriovenous Malformations (AVMs) pose a risk of neurologic deterioration, particularly when located in eloquent areas. While awake surgery is well-established for treating low-grade gliomas near eloquent areas, its efficacy for AVMs is less conclusively reported.
Methods: This study conducted a systematic review and individual patient data (IPD) meta-analysis following Cochrane Collaboration and PRISMA guidelines.
[Surgical treatment for slow transit constipation: total colectomy and subtotal colectomy].
Zhonghua Wei Chang Wai Ke Za Zhi
December 2024
Department of General Surgery, the Army Medical Center (Daping Hospital), Chongqing400042, China.
Although the surgical treatment of slow transit constipation (STC) has been around for over a century, the choice of surgical method is still controversial. Specifically, the two most widely used operations in the world are total colectomy ileorectostomy (TC-IRA) and subtotal colectomy. Subtotal colectomy offers many methods for anastomosis, including ileocecal and cecorectal anastomoses and so on.
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