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

Recurrent syncope in an 84-year-old man.

Project description:An 84-year-old man with hypertension and type 2 diabetes presented with recurrent transient loss of consciousness within 2 hours after dinner at home. Physical examination, electrocardiogram, and laboratory studies were unremarkable except hypotension. Blood pressures were measured in different postures and within 2 hours after meal, but neither orthostatic hypotension nor postprandial hypotension was detected. Further, history taking revealed that the patient was tube-fed with a fluid food pump with an inappropriate rapid infusion rate of 1500 mL per minute at home. He was eventually diagnosed as having syncope due to postprandial hypotension, which was caused by the inappropriate way of tube feeding. The family was educated about appropriate way of tube-feeding and the patient did not develop any episode of syncope during a two-year follow-up. This case highlights the importance of careful history taking in the diagnostic evaluation of syncope and the increased risk of syncope due to postprandial hypotension in the elderly.

| S-EPMC10259433 | biostudies-literature

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