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Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
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 PDFSURGICAL TREATMENT OF GASTRIC STUMP CANCER: A COHORT STUDY OF 51 PATIENTS.
Arq Bras Cir Dig
January 2025
Universidade Estadual de Campinas, Faculty of Medical Sciences, Department of Surgery, Digestive Diseases Surgical Unit - Campinas (SP), Brazil.
Background: Gastric stump neoplasia is defined as a neoplasia that arises in the gastric remnant after at least 5 years of interval from the first gastric resection.
Aims: The aim of this study was to analyze 51 patients who underwent total and subtotal gastrectomy and multi-visceral resections in patients with gastric stump cancer.
Methods: The hospital records of 51 patients surgically treated for gastric stump cancer between 1989 and 2019 were reviewed.
OPTIMIZING PERIOPERATIVE CARE FOR PERIHILAR CHOLANGIOCARCINOMA: THE CRUCIAL ROLE OF MULTIDISCIPLINARY MANAGEMENT, NEOADJUVANT THERAPY, AND INTERVENTIONAL RADIOLOGY.
Arq 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.
Impact of surgery versus follow-up on psychological distress in patients with indeterminate pulmonary nodules: A prospective observational study.
Qual Life Res
January 2025
Shantou University Medical College, Shantou, 515041, China.
Purpose: To investigate whether surgery is more effective than follow-up in reducing psychological distress for patients with observable indeterminate pulmonary nodules (IPNs) and to assess if psychological distress can serve as a potential surgical indication for IPNs.
Methods: This prospective observational study included 341 patients with abnormal psychometric results, as measured by the Hospital Anxiety and Depression Scale (HADS). Of these, 262 patients opted for follow-up and 79 chose surgery.
Successful Achievement of Demanding Outcomes in Upadacitinib-Treated Atopic Dermatitis Patients: A Real-World, 96-Week Single-Centre Study.
Dermatol Ther (Heidelb)
January 2025
1st Department of Dermatology and Venereology, Medical School of Athens, Andreas Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Introduction: Results from randomized controlled trials of upadacitinib, a Janus kinase (JAK) inhibitor, have led to its approval for the treatment of moderate-to-severe atopic dermatitis (AD) in patients aged ≥ 12 years. The aim of this study was to report the effectiveness and safety of upadacitinib in real-world settings over a period of 96 weeks.
Methods: This retrospective study included all patients treated with upadacitinib at our centre between April 2022 and September 2024.
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