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Condition: Rare Diseases
Procedure: Gastroschisis Repair
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Total 9 results found since Jan 2013.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
In conclusion, we identified variants in theLIG3 gene that result in a mitochondrial disease characterized by predominant gut dysmotility, encephalopathy, and neuromuscular abnormalities.
Source: Brain - April 15, 2021 Category: Neurology Source Type: research
Spontaneous Spinal Epidural Hematoma in an Adult Patient with Complex Congenital Heart Disease
We report the case of a 27-year-old man who developed sudden upper back pain with no specific precipitant. Five days later, he visited our emergency department complaining of weakness in both lower limbs and dysuria. He had a history of intracardiac repair and a Blalock-Park procedure for an interrupted aortic arch and ventricular septal defect in infancy. Additionally, he had undergone an aortic root dilatation and aortic valve replacement at the age of 10 because of progression of aortic and supra-aortic stenosis and had received chronic anticoagulation and antiplatelet therapy with warfarin and aspirin, respectively. An...
Source: International Heart Journal - July 8, 2021 Category: Cardiology Authors: Toshinobu Ifuku Toshihiro Nishiguchi Source Type: research
