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Chronic enteropathy associated with SLCO2A1 from North India: a rare monogenic condition mimicking Crohn's disease.
BMJ Case Rep
January 2025
Pediatrics, All India Institute of Medical Sciences, New Delhi, Delhi, India.
Multiple chronic ulcers of the small intestine are primarily attributed to Crohn's disease. Other differential diagnoses include rare monogenic disorders caused by mutations in and , the latter responsible for chronic enteropathy associated with (CEAS), a condition mainly reported in Asian patients. We present the case of a 10-year-old girl from India with a 5-year history of abdominal pain, altered bowel habits and failure to gain weight.
View Article and Find Full Text PDFRinged esophagus: all that glitters is not gold.
Rev Gastroenterol Peru
January 2025
Universidad Peruana Cayetano Heredia, Lima, Perú.
We report the case of an elderly patient with progressive dysphagia to solids and later to liquids, and weight loss. The patient underwent an upper endoscopy, which showed multiple stenoses and trachealization. Biopsies were taken and a diagnosis of lymphocytic esophagitis was made.
View Article and Find Full Text PDFDiagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFMorphological Study on Lenticulostriate Arteries in Patients With Middle Cerebral Artery Stenosis at 7 T MRI.
J Magn Reson Imaging
January 2025
Department of Radiology, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Background: Middle cerebral artery (MCA) stenosis affects lenticulostriate arteries (LSAs) that supply the basal ganglia. Increased spatial resolution and signal-to-noise ratio of 7 T could facilitate morphological imaging of very-small-diameter LSAs.
Purpose: To evaluate differences in morphological characteristics of LSA among different MCA stenoses.
Cerebrovascular stenosis related to tyrosine kinase inhibitor for chronic myeloid leukemia: two illustrative cases.
BMC Neurol
January 2025
Department of Neurosurgery, Gifu University Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan.
Background: Tyrosine kinase inhibitors (TKIs) improve prognosis in chronic myeloid leukemia (CML). Nilotinib and ponatinib, second- and third-generation TKIs, respectively, have been reported to cause adverse vascular occlusive events such as myocardial infarction and peripheral arterial disease. However, little is known about the risk of cerebral infarction associated with severe cerebrovascular stenosis, which is a late complication of TKIs.
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