Thomas D Ryan

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Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex after blistering was noted at birth. Motor function(More)
Patients with Duchenne muscular dystrophy (DMD) develop dilated cardiomyopathy and are at risk for kidney injury. Creatinine based estimated glomerular filtration rate (eGFR) is limited by low muscle mass with low serum creatinine levels in DMD. We assessed the relationship between cardiac function, modified Schwartz eGFR and cystatin C eGFR in patients(More)
Subgaleal hematomas (SGHs) in neonates may result from trauma to the scalp sustained during delivery. In the majority of cases, these lesions will resolve on their own without serious or long-term consequences. The authors report on a case of SGH resulting in hypotension, anemia, coagulopathy, and eventually direct hyperbilirubinemia in a neonate. After(More)
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