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http://dx.doi.org/10.3779/j.issn.1009-3419.2013.10.12 | DOI Listing |
Seizure
January 2025
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
N Engl J Med
January 2025
From the Departments of Emergency Medicine (E.F.S.), Radiology (B.P.A.), Medicine (S.S.A.), and Neurology (D.J.L.), Massachusetts General Hospital, and the Departments of Emergency Medicine (E.F.S.), Radiology (B.P.A.), Medicine (S.S.A.), and Neurology (D.J.L.), Harvard Medical School - both in Boston.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
View Article and Find Full Text PDFArq Bras Cir Dig
January 2025
Pontificia Universidad Católica de Chile, Department of Digestive Surgery - Santiago, Chile.
Background: Perihilar cholangiocarcinoma presents unique challenges in perioperative management, requiring a comprehensive approach to optimize patient outcomes.
Aims: This case study focuses on the multidisciplinary management and innovative interventions performed in the perioperative care of a patient with hilar cholangiocarcinoma.
Methods: A comprehensive assessment and treatment strategy involving neoadjuvant therapy and interventional radiology techniques were implemented.
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