Coagulation factor VII R353Q polymorphism and the risk of puerperal cerebral venous thrombosis.

Puerperal cerebral venous thrombosis (CVT) is a relatively common form of stroke in young women in India. The blood coagulation factor VII (FVII) R353Q polymorphism increases the risk for venous thrombosis. Our aim was to investigate the association of FVII R353Q polymorphism with the risk of puerperal CVT. A total of 100 women with puerperal CVT and 102 age-matched women without postpartum complications were investigated. FVII R353Q genotypes were identified using restriction fragment length polymorphism analysis. Our results showed that the homozygous FVII 353QQ genotype was present in 9% and 8% of patients and controls, respectively; and 42% of patients and 31.4% of controls had the heterozygous 353RQ genotype (odds ratio = 1.55, 95% confidence interval = 0.89-2.70; p = 0.243). Our findings suggest that the FVII R353Q polymorphism is not associated with increased risk for CVT occurring during the puerperal period in Indian women.

Postnatal variations in blood free and acylcarnitines.

BACKGROUND: Alteration in concentrations of blood carnitine and its esters are diagnostic of a number of inherited metabolic disorders. Acylcarnitine (AC) profiles of newborns obtained from dried blood spots by tandem mass spectrometric analysis are being used for the diagnosis of these disorders. There are no data of the postnatal variations of free carnitine (FC) and AC in Indian neonates. OBJECTIVES: Evaluation of postnatal variations in free and AC levels in newborns. METHODS: Blood FC and AC levels were evaluated in 2,727 healthy neonates of postnatal day 2-30 by electrospray ionization tandem mass spectrometry. RESULTS: Blood C2, C5DC, C16, C16:1, C18, C18:1, C18:2, and C18:OH carnitines were increased in groups A (aged 8-14 days) and B (aged 15-30 days), compared with the control group (aged 2-7 days), whereas C3, C4, C4OH, C6, C6DC, and C12 carnitines were increased only in group B. No sex-related differences were found except for C3DC, C4, and C5 carnitine concentrations, which were higher in female neonates. CONCLUSIONS: Our data can be used as a reference for the assessment of carnitine status in Indian newborns, hence reducing the risk of misdiagnosis of fatty acid oxidation disorders and organic acidemias during interpretation of the results of tandem mass spectrometry-based newborn screening.

The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women.

Pregnancy and puerperium raise the risk of thrombotic events, and these risks are likely to be increased in women who are carriers of thrombophilic gene polymorphisms. Prothrombin G20210A variant is reported to be the second most frequent prothrombotic polymorphism in Caucasians. Our aim was to determine the prevalence of this variant in south Indian women and examine its association with cerebral venous and sinus thrombosis occurring during puerperium. We investigated 96 women with puerperal cerebral veno-sinus thrombosis (CVT) and 103 age-matched women with no post-partum complications. We used restriction fragment length polymorphism analysis to identify their genotypes. The prothrombin G20210A variant was not detected in either the CVT patients or the healthy control subjects. Our study on a large series of patients with puerperal CVT shows that the prothrombin G20210A variant is not present in south Indian women and is not associated with puerperal CVT. This study also highlights the fact that there are racial differences in the risk factors for thrombosis, which should be considered when investigating these patients.

Factor V gene A4070G mutation and the risk of cerebral veno-sinus thrombosis occurring during puerperium.

INTRODUCTION: Cerebral veno-sinus thrombosis (CVT) occurring during puerperium is a common form of stroke in young women in India, associated with high mortality and morbidity. Genetic polymorphisms involving coagulation factors are considered to be risk factors for thrombosis. A recently identified polymorphism in factor V gene, A4070G (R2 allele), has been reported as a risk factor for venous thrombosis in some studies. Moreover, the R2 allele has been reported to increase factor V Leiden-related thrombosis risk in doubly heterozygous individuals. The risk associated with the R2 allele has not yet been evaluated in CVT. Our aim was to determine the prevalence of factor V A4070G mutation in Indians and examine its role as a possible risk factor for CVT occurring during puerperium. MATERIALS AND METHODS: We investigated 50 patients with puerperal CVT and 100 healthy women with no post-partum complications for factor V A4070G and G1691A (factor V Leiden) polymorphisms using polymerase chain reaction and restriction fragment length polymorphism. RESULTS AND CONCLUSION: Among cases, 6 (12%) were heterozygous for the factor V A4070G mutation and none were homozygous. In the control group, 9 (9%) were heterozygous and 3 (3%) were homozygous. The odds ratio was 1.00 (95% CI: 0.31-3.13, p=1.000), suggesting that the risk for CVT was not increased in the presence of the R2 allele. There was no co-inheritance of factor V A4070G with factor V G1691A in any of the subjects. Our study shows that the A4070G mutation in factor V though highly prevalent in the Indian population is not associated with an increased risk of CVT occurring during puerperium in Indian women.

Thrombophilic gene polymorphisms in puerperal cerebral veno-sinus thrombosis.

Puerperal cerebral veno-sinus thrombosis (PCVT) is a common form of stroke in young women in India, which is associated with high morbidity and mortality. The frequency of PCVT in India is 10 to 12 times more compared to western population. As yet, the etiology of this condition is unclear. Our aim was to study the prevalence and the role of the common genetic polymorphisms associated with thrombophilia such as factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) C677T, in aseptic PCVT. We investigated 86 women with PCVT and 86 age-matched women with no post-partum complications. Polymerase chain reaction (PCR)/restriction fragment length polymorphism analysis was used to identify their genotypes. The frequency of the three polymorphisms in cases and controls were: factor V Leiden, 2.3% versus 1.2% (OR 0.49, 95% CI=0.02-7.12, p=1.000) and MTHFR C677T, 16.3% versus 17.4% (OR 0.92, 95% CI=0.39-2.19, p=0.838). The prothrombin G20210A variant was not detected in either patients or controls. The clinical characteristics of the PCVT patients with the polymorphisms did not differ significantly from those without them. In our series of PCVT patients, the risk associated with the established thrombophilic risk factors is insignificant. Exploration of these gene polymorphisms seems to be of limited value in the investigation of PCVT in south Indian women.