We describe features with onset in 102 patients seen within the first year of rheumatoid disease. The male:female ratio was approximately 3:4, suggesting a near equal sex incidence at onset. The disease started more often in the colder months and was usually insodious, symmetrical, and involved the upper limbs. The patients were followed prospectively and outcome was assessed after a mean of 4....

Familial Blau syndrome and sporadic early-onset sarcoidosis (EOS) are both systemic granulomatous diseases evoked by the spontaneous activation of mutated NOD2. In Japan, the R334W amino acid substitution is more frequently identified, whereas the R334Q mutation is rare and, in contrast to western countries where disease causing mutations are typically hereditary, most Japanese cases derive fro...

A 43-year-old woman with medical history of hypertension, myocardial infarction, ischemic cardiomyopathy, and systolic heart failure with an ejection fraction of 20% to 25% on a recent echocardiogram developed sudden onset of left hemi-paresis, left hypoesthesia, left gaze deviation, and mutism. Two hours after symptom onset her initial National Institutes of Health Stroke Scale score was 25. A...

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclud...