Hemi-central retinal artery occlusion in young adults.

Amongst the clinical presentations of retinal artery occlusion, hemi-central retinal artery occlusion (Hemi-CRAO) is rarely described. This case series of four adults aged between 22 and 36 years attempts to describe the clinical profile, etiology and management of Hemi-CRAO. Case 1 had an artificial mitral valve implant. Polycythemia and malignant hypertension were noted in Case 2. The third patient had Leiden mutation while the fourth patient had Eisenmenger’s syndrome. Clinical examination and fundus fluorescein angiography revealed a bifurcated central retinal artery at emergence from the optic nerve head, in all cases. Color Doppler examination of the central retinal artery confirmed branching of the artery behind the lamina cribrosa. It is hypothesized that bifurcation of central retinal artery behind the lamina cribrosa may predispose these hemi-trunks to develop an acute occlusion if associated with underlying risk factors. The prognosis depends upon arterial recanalisation and etiology of the thromboembolic event.

Mutação G20210A no gene da protrombina, fator V de Leiden e anticorpos anticardiolipina não influenciam a sobrevida do enxerto renal após o transplante / Prothrombin G20210A gene mutation, factor V Leiden and anticardiolipin antibodies do not influence renal graft survival after transplantation

Introdução: Complicações tromboembólicas são importantes fatores de risco para perda do enxerto e pior evolução após o transplante renal. pacientes com defeito trombofílico apresentam maior risco de complicações tromboembólicas. Foram analisados, entre receptores de transplante renal, a prevalência de defeito trombofílico e o risco atribuído a esta condição para a perda do enxerto e para o desenvolvimento de tromboses intravasculares. Métodos: estudo do tipo coorte incluindo 388 receptores adultos analisados quanto à presença de trombofilia de acordo com a pesquisa de anticorpos anticardiolipidina (aCL) por ELISA e das mutações G1691A no gene do fator V (FV) e G20210A no gene da protrombina (PT) por PCR multiplex. Resultados: Defeito trombofílico foi identificado em 25,8% dos pacientes. As taxas de sobrevida de 2 anos do enxerto foram semelhantes entre os pacientes com e sem defeito trombofílico (94%, p=0,53), bem como a sobrevida dos enxertos livres de tromboses intravasculares (97% versus 97%, p=0,83). pacientes com defeito trombofílico apresentaram prevalência de tromboses intravasculares semelhante à do grupo-controle (3% versus 3,5%, p=0,82). O transplante renal anterior foi associado a maior risco de perda de enxerto (OR 20,8, p<0,001) e de ocorrência de trombose intravasculares (OR 6,8, p=0,008). Conclusões: As prevalências das mutações FVG1691A e PTG20210A na população estudada foram semelhantes às da população geral não transplantada, e a prevalência de anticorpos aCL superou a observada entre os indivíduos sadios. Não houve associação entre os marcadores de trombofilia estudados e a sobrevida em médio prazo do transplante renal.

Introduction: Thromboembolic complications are important risk factors for graft loss and poor outcome after renal transplantation. patients with thrombophilic defects are at increased risk of thromboembolic complications. Were analyzed, among kidney transplant recipients, the prevalence of thrombophilic defects and the risk attributed to this condition for graft loss and the development of intravascular thrombosis. Methods: A cohort study including 388 adult recipients analyzed for the presence of thrombophilia according to anticardiolipidina antibodies (aCL) by ELISA and gene mutations G1691A in factor V (FV) and prothrombin gene G20210A (PT) by multiplex PCR. Results: thrombophilic defect was identified in 25.8% of patients. The survival rates of two years of the graft were similar between patients with and without thrombophilic defect (94%, p = 0.53), and the survival of free grafts of intravascular thrombosis (97% versus 97%, p = 0 , 83). patients with an increased prevalence of thrombophilic defect intravascular thrombosis similar to the control group (3% versus 3.5%, p = 0.82). Previous renal transplantation was associated with increased risk of graft loss (OR 20.8, p <0.001) and intravascular thrombosis (OR 6.8, p = 0.008). Conclusions: The prevalence of mutations and FVG1691A PTG20210A in this study were similar to those of the general population not transplanted, and the prevalence of aCL antibodies exceeded that observed among healthy individuals. There was no association between markers of thrombophilia studied and medium-term survival in renal transplantation.

Factor V Leiden mutation in Korean women with pregnancy-induced hypertension / 대한산부인과학회지

OBJECTIVE: The purposes of this study was to evaluate the frequency of Leiden mutation (missense mutation in the factor V gene at exon 10, 1691 CGA to CAA) in Korean women with well characterized pregnancy-induced hypertension (PIH) compared with normotensive gravid women. METHODS: Genomic DNA from 121 PIH cases and 98 normotensive pregnant control cases were used for polymerase chain reaction (PCR). To genotype Leiden mutation (missense mutation in the factor V gene, exon 10 (1691 G to A)), primers (5'-TGC CCA GTG CTT AAC AAG ACC A-3', 5'-TGT TAT CAC ACT GGT GCT AA-3') were employed to make 267 base pair (bp) PCR product. There was an initial denaturation at 94 degrees C 5 min, followed by 30 cycles of one minute at 94 degrees C, one minute at 55 degrees C, and one minute at 72 degrees C. A 267 bp PCR product was further digested with Mnl I for 2 hour at 37 degrees C and analysed through 12% polyacrylamide gel electrophoresis to determine genotype. Allele 1691G yielded 37 bp, 67 bp, 163 bp fragment and allele 1691A yielded 67 bp, 200 bp fragment. RESULTS: We examined the genotypes of factor V of 121 Korean women with pregnant induced hypertension and 98 normal pregnant women. None of the 219 Korean women carried the factor V Leiden mutation. CONCLUSION: The factor V Leiden mutation is absent and not a common cause of PIH in Korean women.

Study on the Factor V Leiden Mutation in Pregnant Women and Relationship with Preeclampsia Severe Form / 대한주산의학회잡지

OBJECTIVE: A study showed that resistance to activated protein C may develope some cases of severe preeclampsia. A common missense mutation in the factor V gene, the Leiden mutation, is the most frequent genetic cause of resistance to activated protein C. Our objective was to determine whether this mutation is more prevalent in patients with severe preeclampsia than in normotensive controls. METHOD: Deoxyribonucleic acid was extracted from whole blood of 158 gravid women of severe preeclampsia and 403 normotensive gravid women. The polymerase chain reaction was used to amplify exon 10 of the factor V gene, followed by allele-specific restriction with Mnl 1 for mutation detection. RESULTS: No patients were homozygous for the Leiden mutation. We could not find any positive case with FV:Q506 in the normal or patient group. CONCLUSION: We could not find that carriers of the factor V Leiden mutation are increased risk for severe preeclampsia. In contrast to the reports in Caucasian, the prevalence of APC resistance and FV:Q506 might be very low or absent in the Korean population. But, carriers of this common thrombophilic mutation may be identified so that other causes and risk factors for inherited thrombophilia should be investigated in the Korean population.

A Study of Prevalence of Activated Protein C Resistance and Leiden Mutation among Korean Patients with Venous Ulcers / 대한피부과학회지

BACKGROUND: Recently, resistance to activated protein C(APC) is known to be an important risk factor for venous leg ulcers. Leiden mutation in clotting factor V is the most common genetic defect leading to APC resistance in western countries. Until now, the prevalence of APC resistance and Leiden mutation in Korean patients with venous ulcers has been ill defined. OBJECTIVE: We performed this study in order to investigate the prevalence of APC resistance and Leiden mutation in Korean patients with venous ulcers. METHODS: The functional analysis for APC resistance(APC resistance ratio) and genetic study for Leiden mutation were conducted in 40 patients with venous ulcers. RESULTS: 1. Of the 40 patients with venous ulcers, resistance to APC was documented in 11 individuals (27.5%). 2. We could not find factor V Leiden mutation in 40 patients. 3. Patients with APC resistance more frequently represented recurrence of venous ulcers and venous thrombosis than in their non-APC resistant counterparts. CONCLUSION: APC resistance may be one of the thrombophilic defects in relation with venous ulcers in Korea. However, Leiden mutation may be rare in Korean patients with venous ulcers than in Caucasians. These findings suggested that the other genetic or non-genetic factors may be involved in the pathogenesis of APC resistance in Korea.

Activated Protein C Resistance and Factor V Leiden Mutation in Patients with Arterial Ischemic Stroke

BACKGROUND: In the western hemisphere, resistance to activated protein C (APCR) is the most common risk factor for venous thromboembolic disease. A one-point mutation in the coagulation factor V that renders it APCR is found in more than 90% of patients with APC-resistant venous thrombosis. In Hispanic and Caucasian patients with arterial ischemic stroke, the prevalence of APC-R is approximately 10%. To determine the prevalence of APC resistance and its causative factor V mutation (Arg 506 Gln) in Koreans, we screened a group of Korean ischemic stroke patients. METHODS: We evaluated 60 Korean patients with arterial ischemic stroke diagnosed by either magnetic resonance neu-roimaging, conventional angiogram, or both, after 2 weeks of symptom onset. The mean age of the subjects was 59.2 years (13-82 years). APC resistance was expressed as a ratio of the activated partial thromboplastin time (aPTT) with and without adding APC to the subject's plasma. The presence of the factor V Leiden (Arg 506 Gln) mutation was determined by a direct polymerase chain reaction-based assay on peripheral blood leukocytes. RESULTS: Only one patient (n=1/60, 1.6%) had APC resistance and none were found to have the factor V Leiden (Arg 506 Gln) mutation. CONCLUSIONS: APCR and the factor V Leiden mutation do not seem to be a significant genetic risk factor for arterial ischemic stroke in Koreans.