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

Twenty-one children and young adults with sickle/beta-thalassemia without overt stroke were examined with magnetic resonance imaging and angiography (MRA), transcranial Doppler (TCD), visual (VEP) and median nerve somatosensory (SEP)-evoked potential recordings, and neuropsychological testing (Wechsler Intelligence Scale [WISC-III]). Eight (38%) had silent infarction in the parietooccipital cortex, deep white matter, or basal ganglia, including two of three with previous seizures. Of 17 undergoing TCD, none had maximum middle cerebral artery (MCA) velocities greater than 126cm/sec, but 9 were abnormal, with low velocities and difficulty in tracking the MCA and/or asymmetry. Three patients had abnormal MRA, one of whom also had silent infarction. One patient had pathological VEP recordings, whereas all SEP recordings were normal. WISC-III was performed in all 11 children, 4 with silent infarction: all but 1 had IQ scores greater than 85 (mean, 97.7; standard deviation, 14.2). We conclude that Greek children and young adults with Sbeta-thalassemia and no history of clinical stroke have TCD abnormalities and silent infarction similar to those reported in children and adolescents with sickle cell anemia, but cognitive function is not necessarily compromised. International collaboration is needed to establish the risk factors for central nervous system sequelae in patients with sickle cell disease, including Sbeta-thalassemia, leading to evidence-based prevention.
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PMID:Central nervous system abnormalities in asymptomatic young patients with Sbeta-thalassemia. 1517 17

In order to detect involvement of the central and peripheral nervous system in beta-thalassemic patients, 32 children and young adults (mean age 14.5 +/- 6.4 years) participated in a systematic neurophysiologic and intellectual prospective study. All patients were in a regular transfusion program, receiving subcutaneous desferrioxamine chelation and maintaining a mean serum ferritin level of 2,101.56 +/- 986.32 ng/ml. Study patients underwent neurophysiologic evaluation consisting of brainstem auditory, visual and somatosensory evoked potential examination (BAEP, VEP, SEP) as well as motor and sensory nerve conduction velocity studies (MCV, SCV). Additionally, the verbal, performance and total IQ were assessed in patients under 16 years of age using the Weschler Intelligence Scale for Children (WISC-III). The incidence of abnormal BAEP, VEP, SEP and NCVs was 0, 3.12, 3.12 and 18.75%, respectively, findings comparative to or better than previously reported. On the contrary, the prevalence of abnormal total IQ score was considerably high (36.4%), not correlating, however, to any of the parameters assessed (age, sex, ferritin level, BAEP, VEP, SEP, NCV). Factors associated with chronic illness, rather than the disease per se, could play a potential role in the development of cognitive dysfunction in beta-thalassemia patients.
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PMID:Neurophysiologic and intellectual evaluation of beta-thalassemia patients. 1592 66