Background and Purpose-Atherosclerosis is a complex disorder with hereditary and environmental causes. Carotid artery intima-media wall thickness (IMT) is a useful measure of atherosclerosis. The objective of this study was to determine the association between carotid IMT and functional promoter variants of stromelysin-1 (MMP3: Ϫ1612 5AϾ6A), interleukin-6 (IL6: Ϫ174GϾC), and hepatic lipase (HL: Ϫ480CϾT) genes. Methods-B-mode carotid ultrasound was performed among 87 subjects (mean age, 70Ϯ12 years; 55% women; 60%Caribbean-Hispanic, 25% black, and 13% white) from the Northern Manhattan Prospective Cohort Study. Carotid IMT was calculated as a composite measure (mean of the maximum IMT in the bifurcation, the common carotid artery, and the internal carotid artery). Results-For all polymorphisms, genotype distribution was not significantly different from Hardy-Weinberg equilibrium.The frequencies of the rare alleles were as follows: Conclusions-CarotidIMT is higher among subjects homozygous for functional variants in genes related to matrix deposition (MMP3 Ϫ16126A), inflammation (IL6 Ϫ174G), and lipid metabolism (HL Ϫ480C). These associations were independent of race-ethnicity and some environmental exposures. Further studies are needed to confirm these genotype-phenotype associations.
BackgroundChildren with sickle cell anemia (SCA) are highly susceptible to stroke and other manifestations of pediatric cerebral vasculopathy. Detailed evaluations in sub-Saharan Africa are limited.MethodsWe aimed to establish the frequency and types of pediatric brain injury in a cross-sectional study at a large SCA clinic in Kampala, Uganda in a randomly selected sample of 265 patients with HbSS ages 1–12 years. Brain injury was defined as one or more abnormality on standardized testing: neurocognitive impairment using an age-appropriate test battery, prior stroke by examination or transcranial Doppler (TCD) velocities associated with stroke risk in children with SCA (cerebral arterial time averaged mean maximum velocity ≥ 170 cm/second).ResultsMean age was 5.5 ± 2.9 years; 52.3% were male. Mean hemoglobin was 7.3 ± 1.01 g/dl; 76.4% had hemoglobin < 8.0 g/dl. Using established international standards, 14.7% were malnourished, and was more common in children ages 5–12. Overall, 57 (21.5%) subjects had one to three abnormal primary testing. Neurocognitive dysfunction was found in 27, while prior stroke was detected in 15 (5.7%). The most frequent abnormality was elevated TCD velocity 43 (18.1%), of which five (2.1%) were in the highest velocity range of abnormal. Only impaired neurocognitive dysfunction increased with age (OR 1.44, 95%CI 1.23–1.68), p < 0.001). In univariate models, malnutrition defined as wasting (weight-for-height ≤ −2SD), but not sex or hemoglobin, was modestly related to elevated TCD (OR 1.37, 95%CI 1.01–1.86, p = 0.04). In adjusted models, neurocognitive dysfunction was strongly related to prior stroke (OR 6.88, 95%CI 1.95–24.3, p = .003) and to abnormal TCD (OR 4.37, 95%CI 1.30, p = 0.02). In a subset of 81 subjects who were enriched for other abnormal results, magnetic resonance imaging and angiography (MRI/MRA) detected infarcts and/or arterial stenosis in 52%. Thirteen subjects (25%) with abnormal imaging had no other abnormalities detected.ConclusionsThe high frequency of neurocognitive impairment or other abnormal results describes a large burden of pediatric SCA brain disease in Uganda. Evaluation by any single modality would have underestimated the impact of SCA. Testing the impact of hydroxyurea or other available disease-modifying interventions for reducing or preventing SCA brain effects is warranted.
Stuttering is an uncommon presentation of acute stroke. Reported cases have often been associated with left sided cortical lesions, aphasia, and diYculties with other non-linguistic tests of rhythmic motor control. Three patients with subcortical lesions resulting in stuttering are discussed. In one patient the ability to perform time estimations with a computerised repetitive time estimation task was characterised. One patient had a pontine infarct with clinical evidence of cerebellar dysfunction. A second patient had a left basal ganglionic infarct and a disruption of timing estimation. A third patient had a left subcortical infarct and a mild aphasia. These findings expand the reported distribution of infarction that can result in acquired stuttering. Subcortical mechanisms of speech control and timing may contribute to the pathophysiology of acquired stuttering. (J Neurol Neurosurg Psychiatry 2000;69:546-549) Keywords: stuttering; stroke; subcortical; infarction Stuttering has been defined as a disruption of the fluency of verbal expression characterised by the involuntary repetition or prolongation in the utterance of sounds and syllables.1 Acquired stuttering is infrequent after stroke. Evidence for the physiological basis of stuttering has come from findings of acquired stuttering in adults after vascular lesions or traumatic lesions, as well as from studies of developmental stutterers. Most cases of acquired stuttering with stroke are reported to result from left cortical or bilateral cortical lesions with associated aphasia.2 3 Subcortical stroke leading to acquired stuttering has been infrequently reported in the literature. We present three cases of acquired stuttering resulting from subcortical infarction and investigate the timing behaviour of one patient, using a computerised repetitive time estimation task. MethodsThree cases of acquired stuttering were evaluated with brain MRI. A computerised repetitive time estimation task was performed with patient 2 and in normal control subjects. Patients were instructed to repetitively press a mouse button in a target interval of 10 to 13 seconds from the prior response. After each response, one of two tones was sounded to indicate whether the response was inside or outside of the target interval. Testing was performed in three blocks of 18 intervals each. Results PATIENT 1A 53 year old right handed man with a history of diabetes and hypertension presented with a 2 day history of episodic vertigo and ataxia. On examination he had a left internuclear opthalmoplegia, dysarthria, left facial droop, jaw tremor, right dysmetria, and gait ataxia. Cognition and swallowing were normal. Language function disclosed stuttering consisting of rapid speech with consistent repetition of every syllable with intermittent aphonia but no initial prolongations. Stuttering was present on spontaneous speech and with repetition. He showed intermittent velopharyngeal incompetency during connected speech utterances. He was able to decrease the frequency of his stuttering ...
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