Project description:Spinal muscular atrophy with respiratory distress (SMARD1) presents within the first 13months of age with low birth weight, progressive length dependent motor neuropathy, and respiratory failure from diaphragmatic paralysis. SMARD1 is caused by mutations in IGHMBP2, encoding the immunoglobulin ?-binding protein 2. Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1.

| S-EPMC3085694 | biostudies-literature

Palpitations in a 64-year-old man.

Project description:A 64-year-old man presented with several weeks of intermittent irregular palpitations. He had no prior history of cardiac disease, hypertension or syncope. A 12-lead ECG revealed sinus rhythm with premature atrial and ventricular contractions and high QRS voltages consistent with LV-hypertrophy. Cardiac MR revealed asymmetrical septal hypertrophy and marked mid-myocardial hyperenhancement of the interventricular septum.

| S-EPMC3960282 | biostudies-literature

Getting to the Heart of the Matter: A 20-Year-Old Man With Fever, Rash, and Chest Pain.

Project description:Infection with Helicobacter cinaedi can encompass a wide spectrum of clinical manifestations, including fever, rash, endocarditis, osteomyelitis, and meningitis. The present case demonstrates the ability of H cinaedi to masquerade as acute rheumatic fever and represents the first reported case of cardiac tamponade caused by H cinaedi.

| S-EPMC5788053 | biostudies-literature

Clinical Reasoning: A 57-year-old woman with ataxia and oscillopsia: Varicella-zoster encephalitis.

Project description: Not available

| S-EPMC4999162 | biostudies-literature