Upper gastrointestinal symptoms like vomiting, abdominal pain, abdominal distention may be caused by many conditions like complicated peptic/duodenal ulcer, gastritis or hiatal hernia. However, these symptoms are uncommonly produced by superior mesenteric artery (SMA) syndrome. SMA syndrome is triggered when there is narrowing of the mesenteric angle and shortening of the aortomesenteric distance. We report a case of 42-year-old female who presented with features of gastric outlet obstruction which on further investigation was revealed as SMA syndrome. The aetiology, presentation, diagnosis and management of this unusual condition are discussed.
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http://dx.doi.org/10.4103/2141-9248.121214 | DOI Listing |
Pathol Res Pract
January 2025
Department of Orthopaedics, the second Affiliated Hospital of Wannan Medical College, Wuhu 241000, China. Electronic address:
Background: Renal hemangioblastoma (HB) is a rare extra-central nervous system (CNS) tumor, typically not linked to Von Hippel-Lindau (VHL) Syndrome, and its underlying genetic drivers and molecular mechanisms remain elusive. The objective of this study is to investigate the clinicopathological features and molecular genetic changes of primary renal hemangioblastomas.
Methods: Herein, the clinical, imaging, clinicopathological features, and immunophenotype in 3 cases of renal HB were retrospectively analyzed.
Clin Neurol Neurosurg
January 2025
Department of Neurological Surgery, Lenox Hill Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New York, NY, USA.
Supplementary motor area (SMA) syndrome is characterized by contralateral akinesia and mutism, and frequently occurs following resection of tumors involving the superior frontal gyrus. The frontal aslant tract (FAT), involved in functional connectivity of the supplementary area and other related large-scale brain networks, is implicated in the pathogenesis of, and recovery from, SMA syndrome. However, intraoperative neuromonitoring of the FAT is inconsistent and poorly reproducible, leading to a high rate of postoperative SMA syndrome.
View Article and Find Full Text PDFHum Genome Var
January 2025
Division of Molecular Genetics, Center for Medical Science, Fujita Health University Hospital, Toyoake, Aichi, Japan.
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms.
View Article and Find Full Text PDFEur J Clin Nutr
January 2025
Baxter Novum, Division of Renal Medicine, Department of Clinical Science Intervention and Technology, Karolinska Institute, Stockholm, Sweden.
Background/objectives: Myosteatosis has been associated with sarcopenia, and increased mortality risk in patients on hemodialysis. We aimed to explore the associations between myosteatosis, as assessed by computed tomography (CT), with demographic parameters, body composition metrics, muscle strength, metabolic parameters and mortality in patients with chronic kidney disease (CKD).
Subjects/methods: We enrolled 216 patients (age 60.
Mol Med
December 2024
Department of Otorhinolaryngology/Head and Neck, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, No.3 East Qingchun Road, Hangzhou, 310020, Zhejiang, China.
Background: Sleep apnea syndrome (SAS) is associated with hypertension and vascular remodeling. Hypoxia-inducible factor-1α (HIF-1α) and the Hippo-YAP pathway are implicated in these processes, but their specific roles remain unclear. This study investigated the HIF-1α/Hippo-YAP pathway in SAS-related hypertension.
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