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Tenascin-X deficiency causing classical-like Ehlers Danlos syndrome type 1 in humans is a significant risk factor for GI and tracheal ruptures.
Clin Transl Gastroenterol
January 2025
Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Background: Classical-like Ehlers Danlos Syndrome type 1 (clEDS1) is a very rare form of Ehlers Danlos Syndrome (EDS) caused by tenascin-X (TNX) deficiency, with only 56 individuals reported. TNX is an extracellular matrix protein needed for collagen stability. Previous publications propose that individuals with clEDS1 might be at risk for gastrointestinal (GI) tract perforations and/or tracheal ruptures.
View Article and Find Full Text PDFRisk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome.
Turk J Pediatr
December 2024
Department of Pediatric Neurology, Faculty of Medicine, İnönü University, Malatya, Türkiye.
Background: This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).
Methods: Data of children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according to severe GBS (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), mechanical ventilation (MV) requirement, and poor prognosis (inability to walk independently, HFGS ≥ 3 after six months).
Individuals with Lynch syndrome have similar survival as the general population, but lower than family members without Lynch syndrome.
Gastroenterology
January 2025
Department of Gastrointestinal Oncology, Netherlands Cancer Institute, Amsterdam, the Netherlands, Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:
Patients with relapsed or refractory (R/R) diffuse large B-cell lymphoma (DLBCL) have poor outcomes. Gemcitabine + oxaliplatin (GemOx) with rituximab, a standard salvage therapy, yields complete response (CR) rates of approximately 30% and median overall survival (OS) of 10-13 months. Patients with refractory disease fare worse, with a CR rate of 7% for subsequent therapies and median OS of 6 months.
View Article and Find Full Text PDFSustained treatment-free remission in two chronic myeloid leukemia patients after asciminib discontinuation: a report of two cases.
Ann Hematol
January 2025
Department of internal medicine, Albert Schweitzer Hospital, Dordrecht, The Netherlands.
Selected chronic myeloid leukemia (CML) patients may discontinue their tyrosine kinase inihibitor (TKI) in an attempt to achieve sustained treatment-free remission (TFR), which mitigates therapy-related side effects and limits treatment costs. TFR has been extensively studied following the discontinuation of adenosine triphosphate (ATP) - competitive TKI. However, there is minimal data concerning TFR after the discontinuation of the novel TKI asciminib.
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