First cardiac manifestation of hypotonia-cystinuria syndrome
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DOI: 10.1007/s11011-018-0226-2
Abstract: Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother… read more here.
Keywords: manifestation hypotonia; cystinuria syndrome; cardiac manifestation; hypotonia cystinuria ... See more keywords
Pericarditis as a cardiac manifestation of acute leptospirosis
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DOI: 10.1007/s15010-020-01496-3
Abstract: Leptospirosis is an infectious disease with an increasing incidence worldwide. The clinical presentation is unspecific and ranges from an asymptomatic clinical course to an acute fulminant disease. The current case report describes a 32-year-old male… read more here.
Keywords: leptospirosis; acute leptospirosis; cardiac manifestation; pericarditis cardiac ... See more keywords
CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease
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DOI: 10.3390/ijms23105345
Abstract: Vibrational spectroscopy can detect characteristic biomolecular signatures and thus has the potential to support diagnostics. Fabry disease (FD) is a lipid disorder disease that leads to accumulations of globotriaosylceramide in different organs, including the heart,… read more here.
Keywords: cars imaging; disease; diagnosis; manifestation ... See more keywords