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TTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFCardiopulmonary Exercise Testing.
NEJM Evid
February 2025
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas.
AbstractBecause symptoms of cardiopulmonary disease often occur with exertion, cardiopulmonary exercise testing (CPET) has a unique role in the assessment of patient symptoms, disease severity, prognosis, and response to therapy. In addition to the evaluation of cardiovascular and pulmonary physiology, CPET provides an assessment of the interaction of the cardiovascular and pulmonary systems with the musculoskeletal, nervous, and hematological systems. In this article, we review key CPET variables, protocols, and clinical indications.
View Article and Find Full Text PDFOutcome and Prognosis of Invasive Treatment for Hepatocellular Carcinoma in Very Elderly Patients Over 90 Years Old.
Turk J Gastroenterol
January 2025
Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Fukuoka, Japan.
Background/Aims: To evaluate invasive treatment outcomes for hepatocellular carcinoma (HCC) in patients aged over 90 years. Materials and methods: Twenty-six patients were included. Information on backgrounds, course of treatment, outcomes, and changes in Child-Pugh (CP) score and performance status (PS), as well as a comparison of treatment-related complications and 2-year survival after treatment, were retrospectively examined and compared with 311 patients aged under 90 years who were matched under the same conditions.
View Article and Find Full Text PDFIdentification of multicohort-based predictive signature for NMIBC recurrence reveals SDCBP as a novel oncogene in bladder cancer.
Ann Med
December 2025
Central Laboratory, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Background: Despite surgical and intravesical chemotherapy interventions, non-muscle invasive bladder cancer (NMIBC) poses a high risk of recurrence, which significantly impacts patient survival. Traditional clinical characteristics alone are inadequate for accurately assessing the risk of NMIBC recurrence, necessitating the development of novel predictive tools.
Methods: We analyzed microarray data of NMIBC samples obtained from the ArrayExpress and GEO databases.
Impact of corticosteroids on the efficacy of CD19/22 CAR-T cell therapy in pediatric patients with B-ALL: a single-center study.
Front Pediatr
January 2025
Department of Cell Immunotherapy, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Introduction: Corticosteroids are used for toxicity management, raising concerns about whether they may affect the anti-leukemic effects of chimeric antigen receptor (CAR)-T cells.
Methods And Results: In this study, we retrospectively analyzed patients (fined two subgroups based on disease burden. Of the 75 cases in the low disease burden (LDB) group (MRD < 5%, no extramedullary disease), there was no significant difference between the use of steroids and event-free survival (EFS) ( = 0.
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