Objective　 To elucidate the molecular basis of G6PD deficiency in the Han and Li nationalities in Hainan, China. Methods　 Polymerase chain reaction and restriction enzyme digestion were used to screen the mutations 1388G→A, 1360C→T, 1024C→T, 592C→T,517T→C, 493A→G,487G→A,392G→T and 95A→G. Single strand conformation polymorphism analysis was used to screen the other mutations followed by DNA sequencing to characterize the mutations of the samples with abnormal SSCP bands. Results　 Of the fifty-nine Han cases with G6PD deficiency, fourteen with 1388G→A(23.7%), three with 871G→A(5.1%), one with 835A→T(1.7%), one with 517T→C(1.7%), three with 392G→T(5.1%), and four with 95A→G(6.8%) were found. Of the thirty-two Li cases with G6PD deficiency, six with 1388G→A(18.8%), three with 871G→A(9.4%), and two with 95A→G(6.3%) were found. A new mutation 835A→G which causes the substitution of Ala for Thr at 279 in a Han case was identified and named as G6PD-Haikou. The enzyme activity of the variant is about 10% of the normal and lower than the activity of the variant 835A→T with about 40% of the normal. Analysis of the 3D model of human G6PD has revealed that the hydroxyl group of Thr at 279 is a group in maintaining the interaction of the G6PD subunits. Conclusion　 The most common mutations of G6PD deficiency in Han and Li nationalities in Hainan are similar. Compared with the mutation spectrum of G6PD gene in the populations in other regions of China, the results indicate that some G6PD gene mutations are widespread in the populations of different regions in the southern part of China. The hydroxyl group of the Thr at 279 of human G6PD may be a necessary group for maintaining the interaction of the G6PD subunits and the enzyme activity.

No abstract available.
Atrial Fibrillation* ; Humans ; Stroke*

No abstract available.
Hyperhomocysteinemia* ; Stroke*

BACKGROUND AND PURPOSE: Intracerebral hemorrhage (ICH) accounts for approximately 10% of stroke cases. Hypertension may play a role in the pathogenesis of ICH that occurs in the basal ganglia, thalamus, pons, and cerebellum, but not in that of lobar ICH. Hypertension contributes to decreased elasticity of arteries, thereby increasing the likelihood of rupture in response to acute elevation in intravascular pressure. This study aimed to evaluate arterial stiffness (using the arterial stiffness index [ASI]) in patients with deep (putaminal and thalamic) ICH in comparison with patients with lobar ICH. METHODS: We enrolled 64 patients (mean+/-SD age: 69.3+/-10.7 years; 47 men and 17 women) among 73 who referred consecutively to our department for intraparenchymal hemorrhage and underwent brain computed tomography (CT) and cerebral angio-CT. In all the subjects, 24-hour heart rates and blood pressures were monitored. The linear regression slope of diastolic on systolic blood pressure was assumed as a global measure of arterial compliance, and its complement (1 minus the slope), ASI, has been considered as a measure of arterial stiffness. RESULTS: In the patients with deep ICH, ASI was significantly higher than in the patients with lobar ICH (0.64+/-0.19 vs. 0.53+/-0.17, P=0.04). CONCLUSIONS: Our results suggest that in deep ICH, arterial stiffening represents a possible pathogenetic factor that modifies arterial wall properties and contributes to vascular rupture in response to intravascular pressure acute elevation. Therapeutic strategies that reduce arterial stiffness may potentially lower the incidence of deep hemorrhagic stroke.
Arteries ; Basal Ganglia ; Blood Pressure ; Brain ; Cerebellum ; Cerebral Hemorrhage* ; Complement System Proteins ; Compliance ; Elasticity ; Heart Rate ; Hemorrhage ; Humans ; Hypertension ; Incidence ; Linear Models ; Male ; Pons ; Rupture ; Stroke ; Thalamus ; Vascular Stiffness*

BACKGROUND AND PURPOSE: Intracerebral hemorrhage (ICH) accounts for approximately 10% of stroke cases. Hypertension may play a role in the pathogenesis of ICH that occurs in the basal ganglia, thalamus, pons, and cerebellum, but not in that of lobar ICH. Hypertension contributes to decreased elasticity of arteries, thereby increasing the likelihood of rupture in response to acute elevation in intravascular pressure. This study aimed to evaluate arterial stiffness (using the arterial stiffness index [ASI]) in patients with deep (putaminal and thalamic) ICH in comparison with patients with lobar ICH. METHODS: We enrolled 64 patients (mean+/-SD age: 69.3+/-10.7 years; 47 men and 17 women) among 73 who referred consecutively to our department for intraparenchymal hemorrhage and underwent brain computed tomography (CT) and cerebral angio-CT. In all the subjects, 24-hour heart rates and blood pressures were monitored. The linear regression slope of diastolic on systolic blood pressure was assumed as a global measure of arterial compliance, and its complement (1 minus the slope), ASI, has been considered as a measure of arterial stiffness. RESULTS: In the patients with deep ICH, ASI was significantly higher than in the patients with lobar ICH (0.64+/-0.19 vs. 0.53+/-0.17, P=0.04). CONCLUSIONS: Our results suggest that in deep ICH, arterial stiffening represents a possible pathogenetic factor that modifies arterial wall properties and contributes to vascular rupture in response to intravascular pressure acute elevation. Therapeutic strategies that reduce arterial stiffness may potentially lower the incidence of deep hemorrhagic stroke.
Arteries ; Basal Ganglia ; Blood Pressure ; Brain ; Cerebellum ; Cerebral Hemorrhage* ; Complement System Proteins ; Compliance ; Elasticity ; Heart Rate ; Hemorrhage ; Humans ; Hypertension ; Incidence ; Linear Models ; Male ; Pons ; Rupture ; Stroke ; Thalamus ; Vascular Stiffness*

Cerebrovascular complications after orthotopic heart transplantation (OHT) are more common in comparison with neurological sequelae subsequent to routine cardiac surgery. Ischemic stroke and transient ischemic attack (TIA) are more common (with an incidence of up to 13%) than intracranial hemorrhage (2.5%). Clinically, ischemic stroke is manifested by the appearance of focal neurologic deficits, although sometimes a stroke may be silent or manifests itself by the appearance of encephalopathy, reflecting a diffuse brain disorder. Ischemic stroke subtypes distribution in perioperative and postoperative period after OHT is very different from classical distribution, with different pathogenic mechanisms. Infact, ischemic stroke may be caused by less common and unusual mechanisms, linked to surgical procedures and to postoperative inflammation, peculiar to this group of patients. However, many strokes (40%) occur without a well-defined etiology (cryptogenic strokes). A silent atrial fibrillation (AF) may play a role in pathogenesis of these strokes and P wave dispersion may represent a predictor of AF. In OHT patients, P wave dispersion correlates with homocysteine plasma levels and hyperhomocysteinemia could play a role in the pathogenesis of these strokes with multiple mechanisms increasing the risk of AF. In conclusion, stroke after heart transplantation represents a complication with considerable impact not only on mortality but also on subsequent poor functional outcome.
Atrial Fibrillation ; Brain Diseases ; Heart Transplantation* ; Heart* ; Homocysteine ; Humans ; Hyperhomocysteinemia ; Incidence ; Inflammation ; Intracranial Hemorrhages ; Ischemic Attack, Transient ; Mortality ; Neurologic Manifestations ; Plasma ; Postoperative Period ; Stroke* ; Thoracic Surgery

No abstract available.
Antihypertensive Agents* ; Cerebral Hemorrhage* ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors* ; Vascular Stiffness*