Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Over the past 28 years, 39 patients with Moyamoya disease or syndrome defined as spontaneous occlusion of the circle of Willis with extensive basal collateral vessels have been treated by the author in Canada and the USA. All patients presented with clinical or radiologic evidence of hemorrhage (23) or ischemia and infarction (16). A total of 12 patients had associated cerebral aneurysms and seven of these patients with aneurysms presented with subarachnoid hemorrhage. The patients ages ranged from 5 to 47 years. Of these 58% were female. The patients racial origin included North American Indian, Innuit, East Indian/Pakistani, Japanese, Chinese, Filipino, Korean, Malayasian, Hispanic, African American and Caucasian. Familial clustering was seen in North American Indian, Innuit and Caucasian patients. Associated disorders (tuberculosis, pharyngitis, thalassemia, fibromuscular hyperplasia, polycystic kidney, sickle cell trait and hypertension) were common in these patients, as was the use of tobacco, alcohol and in the adult females, oral contraceptives. It may be concluded from this series that the etiology of Moyamoya disease or syndrome is probably multifactorial, but that some racial and familial groups are more susceptible. Furthermore, in that the clinical and angiographic features are identical, the separation between Moyamoya disease and syndrome may not be helpful in understanding the etiology and pathophysiology of this disorder.
 ...
PMID:Risk factors of moyamoya disease in Canada and the USA. 940 4

Over 15 years, 14 patients with yersiniosis in two North American comprehensive thalassemia clinics (0.6 cases per 100 patient-years) presented with fever (100%), diarrhea (86%), right-lower-quadrant abdominal pain (71%), bacteremia (57%), a palpable abdominal mass (36%), and pharyngitis (28%). Clinically apparent infection occurred within 10 days of blood transfusion in 57% of patients. Nine patients (64%) had only a modest elevation in serum level of ferritin (< 2,000 micrograms/L). Patients with focal abdominal findings had a higher body iron burden, as estimated by the serum ferritin level, and significant intraabdominal suppurative complications. Two patients were not receiving iron-chelating therapy with deferoxamine; one patient was receiving the experimental chelator deferiprone (L1). Iron-loaded patients with beta-thalassemia are at greatly increased risk for severe yersiniosis, even when their body iron burden (as indicated by the serum ferritin level) is only moderately elevated and they are not receiving iron-chelating therapy with deferoxamine.
 ...
PMID:Infection due to Yersinia enterocolitica in a series of patients with beta-thalassemia: incidence and predisposing factors. 986 43