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| http://dx.doi.org/10.1016/j.jdcr.2017.02.026 | DOI Listing |
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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China.
Orphanet J Rare Dis
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Department of Pediatrics, Guangdong Provincial People's Hospital, The Second School of Clinical Medicine, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China.
Background: Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. This study aimed to describe the gastrointestinal symptoms and endoscopic features of hepatic GSD, including types Ia, Ib, III, VI, and IX, to provide evidence for etiology and treatment.
Methods: A national cohort survey questionnaire was distributed to patients diagnosed with GSD type Ia, Ib, III, VI, and IX through genetic testing or their parents in mainland China in May 2022.
Deep learning system for the differential diagnosis of oral mucosal lesions through clinical photographic imaging.
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School of Dentistry, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
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Department of Respiratory Medicine, Faculty of Medicine, Hokkaido University, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
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View Article and Find Full Text PDFTrans-arterial omental flap protection for infected femoral artery aneurysm in a patient with Parkes-Weber syndrome.
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Division of Vascular Surgery, Department of Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
We report a case of a 75-year-old man diagnosed with Parkes-Weber syndrome with an infected common femoral artery aneurysm secondary to chronic venous ulcers and groin infection. Given the symptomatic and rapid enlargement of the aneurysm, emergency aneurysmectomy and crossover femoro-femoral bypass were performed with an omental flap routed intraluminally through the aneurysm of the ipsilateral external iliac artery. The transarterial route enabled the short-cutting of the omental flap and the potential prevention of infection in the adjacent external iliac artery.
View Article and Find Full Text PDFIntestinal histoplasmosis with granulomatous colonic and mesenteric lymphadenitis due to Histoplasma mississippiense infection in an American Mammoth Jackstock donkey (Equus asinus).
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Department of Pathobiology and Population Medicine, Mississippi State University, 240 Wise Center Drive, Mississippi State, Mississippi 39762, USA.
Histoplasmosis is a rarely reported clinical disease of equids in North America and is historically attributed to Histoplasma capsulatum var. capsulatum. This report details a case of intestinal histoplasmosis with lymphadenitis in an American Mammoth Jackstock donkey from Mississippi.
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