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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDFObjective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
Esophageal Dysfunction in Immune Checkpoint Inhibitor-related Myositis: A Case Report.
Intern Med
December 2024
Department of Neurology, Gifu University Graduate School of Medicine, Japan.
A 69-year-old woman with left-sided breast cancer developed elevated creatine kinase levels and muscle weakness in her extremities after treatment with pembrolizumab. The patient was diagnosed with immune checkpoint inhibitor (ICI)-related myositis. Although the patient had no symptoms of dysphagia, we evaluated her swallowing function because esophageal dysfunction is a known complication of idiopathic inflammatory myopathy.
View Article and Find Full Text PDFLong-term results of laparoscopic Heller-Dor for esophageal-gastric junction outflow obstruction: a prospective comparative study.
Int J Surg
December 2024
Department of Surgical, Oncological and Gastroenterological Sciences, University of Padova, School of Medicine, Padova, Italy.
Background: The aim of this prospective, controlled study was to assess the 5-year follow-up of Laparoscopic Heller-Dor (LHD) in patients with esophago-gastric junction outflow obstruction (EGJOO), compared with achalasia patients (ACH). The management of EGJOO reflects the experience gained with esophageal achalasia, for which LHD has been proven to be an effective long-term treatment. Prospective long-term results of LHD in EGJOO patients are still lacking.
View Article and Find Full Text PDFPseudoachalasia Secondary to Metastatic Osteosarcoma.
Cureus
November 2024
Gastroenterology and Hepatology, Command Hospital, Kolkata, IND.
Pseudoachalasia is a disorder in which symptoms, radiologic, endoscopic, and manometric results resemble idiopathic achalasia. Although these diagnoses may appear similar, their underlying causes and therapy differ significantly. Pseudoachalasia is frequently associated with malignancy, particularly primary adenocarcinoma of the esophagus or cardia.
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