Jia-Shou Liu

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late‐onset lipid storage myopathy

Lan M‐Y, Fu M‐H, Liu Y‐F, Huang C‐C, Chang Y‐Y, Liu J‐S, Peng C‐H, Chen S‐S. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late‐onset lipid storage myopathy.

Association of plasma homocysteine concentration with cerebral white matter hyperintensity on magnetic resonance images in stroke patients.

BACKGROUNDnHomocysteine (Hcy) has been recognized as a risk factor for atherosclerosis. White matter hyperintensity (WMH) on MRI has been regarded as a hallmark for cerebral small vascular disease. The study is to investigate the relationship between plasma Hcy level and WMH on a hospital-based cohort of Taiwanese stroke patients.nnnMETHODS AND RESULTSnA total of 352 consecutive stroke patients (64.7+/-11.2 years) were included. Severity of WMH was semi-quantitatively evaluated with a scoring system. The top WMH score tertile was defined as severe white matter change (sv-WMH). Associations between Hcy tertile levels and sv-WMH were examined, adjusting for demographics and atherosclerosis risk factors. Subjects in the top Hcy tertile (>10.25 micromol/L) had higher WMH scores and prevalence of sv-WMH than those in the middle and in the bottom tertile. The adjusted odds ratio of having sv-WMH was 2.04 (95% confidence interval 1.20-3.47, p=0.008) for the top Hcy level tertile than for the lower two tertiles combined.nnnCONCLUSIONnHcy is a risk factor for cerebral white matter lesion in stroke patients. Even mild hyperhomocysteinemia can significantly increase severity of cerebral microangiopathy.

Serotonin transporter gene promoter polymorphism is associated with body mass index and obesity in non-elderly stroke patients

Background: The serotonergic system is involved in the complex behavioral and physiological process in maintaining energy balance. Genetic factors regulating serotonergic function may have links with the development of obesity. Aim: To investigate whether the 5-HTTLPR polymorphism of the serotonin transporter gene is associated with body mass index (BMI) and obesity in stroke patients. Subjects and methods: The study included 376 patients (65.3±11.3 yr; male, 61.7%) with stroke. Associations between the 5-HTTLPR and BMI and obesity (BMI>-25 kg/m2) were examined in all subjects. In order to test age-dependent effects of the genetic variant, the association was also examined in the non-elderly subgroup (<65 yr) and the elderly subgroup (>-65 yr) respectively. Results: For non-elderly subjects, the SS genotype was independently associated with increased BMI level (β=1.84, p=0.037) and obesity (odds ratio 4.17, 95% CI 1.25–14.0, p=0.021) when the LL genotype was used as the reference. The association was not found for all patients or in the elderly subgroup. The LS genotype was not different from the LL genotype in BMI level or risk of obesity, either for all subjects or with regard to the non-elderly and elderly subgroups. Conclusions: The SS genotype of 5-HTTLPR is an independent determinant of increased BMI level and obesity in non-elderly stroke patients but not in elderly patients. An age-dependent modification for the effect of the 5-HTTLPR on development of obesity is considered.

Botulinum toxin type A treatment for Parkinsonian patients with moderate to severe sialorrhea.

PURPOSEnTo investigate the effect of botulinum toxin type A (BTX-A; Botox) in reducing saliva in patients with Parkinsonism.nnnMETHODSnFifteen patients with clinical diagnosis of idiopathic Parkinsons disease, dementia with Lewy bodies, or multiple system atrophy were enrolled in this open clinical trial. A total of 40-unit dose of Botox was injected into the bilateral parotid and submandibular glands. Objective measuring of saliva production with dental rods, subjective Drooling Score, personal impression of clinical improvement, and the duration of response were used for the global assessment of sialorrhea after BTX-A treatment.nnnRESULTSnAll patients showed objective reduction in saliva production following BTX-A treatment and the mean production was reduced at a significant level. The severity of sialorrhea assessed by Drooling Score was 5.87 +/- 0.92 (range: 5-8) and 3.60 +/- 1.18 (range: 2-6) respectively (p<0.001) before and after BTX-A injection. The mean duration of BTX-A response extended for 16.3 +/- 5.7 weeks (range: 5-24). No severe adverse effect nor worsening of existing dysphagia was observed in all Parkinsonian patients.nnnCONCLUSIONSnParkinsonian drooling may undermine patients health and daily activity. BTX-A local injection is a safe and effective measure in counteracting sialorrhea, even in patients associated with moderate dysphagia.

Bilateral cheiro-oral syndrome.

Eight cases of pure bilateral cheiro-oral syndrome (COS) are reported. The location and etiology of lesion were well defined in six cases, including pontine infarct in three, and brainstem hemorrhage, unilateral thalamic infarct and bilateral subdural hematoma in one patient each respectively. Neuroimaging and neurophysiological studies were normal in another two patients. Taken together with the previous five reported cases of bilateral COS, pons is the most frequent site for presentation even in the absence of associated brainstem signs.

Association between MIF gene polymorphisms and carotid artery atherosclerosis

Atherosclerosis is a chronic inflammatory disorder. Macrophage migration inhibitory factor (MIF) is a potent cytokine that plays an important role in the regulation of immune responses. Polymorphisms including five- to eight-repeat CATT variants ((CATT)(5-8)) and G-173C in the promoter region of the MIF gene are associated with altered levels of MIF gene transcription. The purpose of the study is to investigate the relationship between promoter polymorphisms of the MIF gene and the severity of carotid artery atherosclerosis (CAA). The severity of CAA was assessed in 593 individuals with a history of ischemic stroke by using sonographic examination, and the MIF promoter polymorphisms of these individuals were genotyped. The carriage of (CATT)7 (compared to genotypes composed of (CATT)5, (CATT)6, or both), carriage of C allele (compared to GG), and carriage of the haplotype (CATT)7-C (compared to genotypes composed of (CATT)5-G, (CATT)6-G, or both) were significantly associated with an increase in the severity of CAA. We conclude that polymorphisms in the MIF gene promoter are associated with CAA severity in ischemic stroke patients. These genetic variants may serve as markers for individual susceptibility to CAA.

Delayed cerebral venous thrombosis in a patient with spontaneous intracranial hypotension

Spontaneous intracranial hypotension (IH) may indicate cerebrospinal fluid (CSF) leakage, in the absence of a known dural puncture or tear. Intracranial vascular complications of spontaneous IH include subdural haematoma (SDH), subdural effusion (SDE) and, rarely, cerebral venous thrombosis (CVT) (1–3) and dural arteriovenous fistula (AVF) (3). In this report, we describe a patient with spontaneous IH who unusually developed all of these intracranial vascular complications. It is noteworthy that CVT occurred as late as 4 months after onset of IH.

Neurologic and Non-neurologic Predictors of Mortality in Ischemic Stroke Patients Admitted to the Intensive Care Unit

BACKGROUND/PURPOSEnPatients with severe strokes may have different associated medical comorbidities from those with mild strokes. This study evaluated the neurologic and non-neurologic medical predictors of mortality in patients with severe cerebral infarction in the acute stage.nnnMETHODSnPatients admitted to a neurologic intensive care unit (ICU) due to cerebral infarction were included. Neurologic and non-neurologic predictors for in-unit mortality were determined by logistic regression analyses. Two models using (A) neurologic factors and (B) combined neurologic and non-neurologic factors as mortality predictors were developed. The performance of the models in predicting overall, neurologic and non-neurologic mortalities was compared by areas under the receiver-operating characteristic curves (AUC) of the derived regressive equations.nnnRESULTSnOf 231 patients with cerebral infarction admitted to the ICU, 34 (14.7%) died during ICU stay. Conscious state and acute physiologic abnormalities were significant predictors of mortality. The length of ICU stay in patients with non-neurologic mortality was longer than in those with neurologic mortality (p = 0.044). The AUC of Model B was larger than that of Model A in predicting overall (0.768 +/- 0.045 vs. 0.863 +/- 0.033, p = 0.005) and non-neurologic mortalities (0.570 +/- 0.073 vs. 0.707 +/- 0.074, p = 0.009), while there was no difference in predicting death from neurologic causes (0.858 +/- 0.044 vs. 0.880 +/- 0.032, p = 0.217).nnnCONCLUSIONnImpaired consciousness and acute physiologic abnormalities are independent predictors of mortality for severe ischemic stroke during the acute stage. Neurologic factors predict early mortality from intrinsic cerebral dysfunction, while non-neurologic factors, especially the associated physiologic abnormalities, predict late mortality from medical complications.

Association between cerebral microbleeds and prior primary intracerebral hemorrhage in ischemic stroke patients.

OBJECTIVEnTo investigate association between cerebral microbleeds (CMB) and prior intracerebral hemorrhage (ICH) on MRI and topographic correlation of the two types of lesions.nnnPATIENTS AND METHODSnTwo hundred and sixty consecutive patients (67.0+/-11.1 years) with ischemic stroke were included. CMB and prior ICH were assessed on T2-gradient-echo MRI. The presence and number of CMB as predictors for prior ICH were examined. Topographic correlations between CMB and ICH lesions in patients with prior ICH in the infratentorial, basal ganglionic/thalamic and cortico-subcortical regions were tested.nnnRESULTSnCMB were observed in 113 (43.5%) patients and a total of 50 prior primary ICH lesions were observed in 39 (15.0%) patients. Among the ICH lesions, 39 (78%) were asymptomatic. Presence of CMB (odds ratio 2.53, p=0.015) and number of CMB (odds ratio 1.11, p<0.001) were independent determinants for prior ICH. Topographic correlation between CMB and ICH was significant in the basal ganglionic/thalamic region (p=0.017), but not in the infratentorial (p=0.548) or cortico-subcortical regions (p=0.389).nnnCONCLUSIONnCMB were associated with prior ICH on MRI of patients with ischemic stroke. CMB in the basal ganglion or thalamus was associated with prior ICH in the same region.

The Relation between Plasma Homocysteine Level and Cardiovascular Risk Factors in Cerebral Ischemia

PURPOSEnHyperhomocysteinemia (HHcy) is associated with a higher risk of cerebral ischemia and other vascular thrombosis. Homocysteine is greatly influenced by a broad spectrum of physiological and pathological conditions but the confounding factor for HHcy is unknown in our population, especially in normocreatininemic individuals. It is our aim in this study to elucidate the relation between homocysteine and cardiovascular risk factors, and also describe the distribution of plasma homocysteine level in cerebral ischemia patients with normal serum creatinine level.nnnMETHODSnA retrospective study was conducted to understand the frequency of HHcy in cerebral ischemia patients, and the confounding cardiovascular risk factors in HHcy. Patients were classified into two groups by their plasma homocysteine levels; group I patients were those whose level was > or = 12 microM/L whereas group II < 12 microM/L.nnnRESULTSnA total of 218 patients were enrolled. Their plasma homocysteine level ranged from 3.57 to 46.37 microM/L (mean: 10.01 +/- 5.03 microM/L). Group I included 45 patients whereas group II 173 patients. The frequency of hypertension, diabetes mellitus and cardiac disease, as well as age, aminotransferases, total cholesterol, triglyceride, albumin, hematocrit, hemoglobin and leucocyte count did not differ between group I and II patients, except serum creatinine level was higher in group I patients (p < 0.01). Serum creatinine level correlated directly to and was an independent predictor for the plasma homocysteine level.nnnCONCLUSIONSnHHcy is common in our cerebral ischemia patients. Since renal function is a determinant for HHcy even in normocreatininemic patients, as a cardiovascular risk factor which detriments the renal function, it should be regularly monitored as HHcy is amenable for treatment.