Factores congénitos de los trastornos trombóticos arteriales en recién nacidos / Congenital factors of arterial thrombotic disorders in newborns

La trombosis arterial neonatal representa el 5,8% de todos los tipos de trombosis conocidos en recién nacidos, esto convierte a esta enfermedad en un punto de enfoque específico para su diagnóstico oportuno, y descifrar los factores congénitos de mayor recurrencia, se realizó una revisión sistemática PRISMA, donde se evaluaron 20 artículos de tipo observacional transversal, detallando los resultados obtenidos en cuanto al factor congénito más recurrente que en este caso es el sexo masculino, prematuridad y defectos genéticos se han mencionado además los marcadores bioquímicos y moleculares mayormente evaluados en esta muestra, demostrando que en estos casos los marcadores bioquímicos analizados con frecuencia son: antitrombina III, Proteína C y S, anticuerpos antifosfolípidos y homocisteína y como marcadores moleculares se evalúa con mayor recurrencia a: Factor V Leiden y el gen de la protrombina G20210A.

Neonatal arterial thrombosis represents 5.8% of all known types of thrombosis in newborns, this makes this disease a specific point of focus for its timely diagnosis, and to decipher the congenital factors of greater recurrence, a systematic review PRISMA was performed, where 20 articles of cross-sectional observational type were evaluated, detailing the results obtained in terms of the most recurrent congenital factor which in this case is male sex, prematurity and genetic defects have also been mentioned biochemical and molecular markers mostly evaluated in this sample, showing that in these cases the biochemical markers frequently analyzed are: Antithrombin III, Protein C and S, antiphospholipid antibodies and homocysteine and as molecular markers are evaluated with greater recurrence to: Factor V Leiden and the prothrombin gene G20210A.

Livedoid Vasculopathy with Hyperhomocysteinemia due to MTHFR Mutation / 대한피부과학회지

Livedoid vasculopathy is a hyalinizing vascular disease characterized by thrombosis and ulceration of the lower extremities. It can be caused by an alteration in control of coagulation with the formation of thrombi within dermal blood vessels. We report a case of livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation, which is treated by folic acid and which also showed very unusual clinical manifestations. A 38-year-old male visited the department of dermatology with a 1 year history of purplish-brown purpura with punched-out ulcers on both lower legs. He had a history of homocysteinemia due to methylene tetrahydrofolate reductase (MTHFR) mutation. The histopathologic findings of the lesional skin revealed dense superficial and deep perivascular and perifollicular infiltrates of lymphocytes and fibrin deposition within the vessels in the dermis. On the basis of clinical and pathological findings, livedoid vasculopathy with hyperhomocysteinemia due to MTHFR mutation was diagnosed and improved by the treatment of 1 mg of folic acid daily.

The Total Serum Homocysteine and Folate by C677T Methylene-tetrahydrofolate Reductase Mutation in Korean Preeclamptic Pregnant Women / 대한산부인과학회잡지

OBJECTIVE: The purpose of this study was to evaluate whether the C677T Methylene-TetraHydroFolate Reductase (MTHFR) polymorphism affects the total maternal serum homocysteine and folate concentration in preeclamptic pregnant women. METHODS: Patients admitted to the hospital for the delivery during 2000-2002. 126 controls without the pregnancy complications and 34 patients with severe preeclampsia were enrolled. The serum homocysteine analysis was conducted using the high performance liquid chromatography methods. The serum folate and vitamin B12 concentration were determined using a radioimmunoassay kit. The C677T MTHFR gene mutation was examined by the polymerase chain reaction of the genomic DNA fragments. RESULTS: The total maternal serum homocysteine concentration and the serum vitamin B12 concentration were not significantly different between controls and the preeclampsia patients (p=0.44 for homocysteine, p=0.06 for vitamin B12). However, the maternal serum folate concentration was significantly higher in the preeclampsia patients than in controls (27.00 +/- 9.54 nmol/L versus 18.03 +/- 12.97 nmol/L, respectively, p=0.01). The total maternal serum homocysteine concentration, the serum folate concentration, and serum vitamin B12 in the C677T MTHFR CC type and TT type were not significantly different (p=0.21 for homocysteine, p=0.22 for folate, p=0.14 for vitamin B12). CONCLUSION: The C677T MTHFR mutation does not significantly affect the maternal homocysteine and folate concentration in both the controls without pregnancy complication and the preeclampsia patients.

The Interaction of Methylenetetrahydrofolate Reductase Polymorphism with Homocysteine in Pregnant Women / 대한산부인과학회잡지

OBJECTIVE: The purpose of this study was to investigate the relationship between serum levels of folic acid, vitamin B12 and homocysteine and C677T metylenetetrahydrofolate reductase (MTHFR) mutation in pregnant women. METHODS: DNA was extracted from whole blood of 177 pregnant women. All samples were genotyped for the C677T polymorphism in MTHFR gene by polymerase chain reaction (PCR-RELP). Serum levels of homocysteine, folate, and vitamin B12 were measured by high performance liquid chromatography for homocysteine, and radioassay for folate and vitamin B12. RESULTS: Serum homocysteine was higher in women with the T/T genotype than those with the C/T or the C/C genotype of the MTHFR gene (p<0.05). Serum homocysteine was negatively correlated with serum folate in all MTHFR genotypes (p<0.001). Serum homocysteine was increased in pregnant women with the T/T type of the MTHFR gene only when the serum folate fell below the median compared to those stayed above the median level (p<0.05). Serum folate was positively correlated with serum vitamin B12 in all subjects. CONCLUSION: Serum homocysteine varied significantly by the MTHFR genotype and the serum B vitamin status.

The Analysis of Interrelationship between Homocysteine and Methylenetetrahydrofolate Reductase Mutation in Patients with Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To analyze the interrelationship between homocysteine and methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: Homocysteine and MTHFR mutation were tested by fluorescent polarizing immunoassay and PCR-RFLP method, respectively. RESULTS: In patients with homocysteine level less than 5 mmol/L, there was no case of normal group but there were four cases of heterozygosity and one case of homozygosity. In patients with homocysteine level 5~10 mmol/L, the number of normal, heterozygosity and homozygosity group were eleven, eighteen and eight, respectively. In patients with homocysteine level 10~15 mmol/L, the number of normal, heterozygosity and homozygosity group were four, one and one, respectively. In patients with homocysteine level more than 15 mmol/L, there was no case of normal and heterozygosity group but there were two cases of homozygosity. CONCLUSIONS: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. And there was a significant relationship between homocysteine and MTHFR mutation.

The Analysis of Methylenetetrahydrofolate Reductase Mutation in Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. MATERIAL AND METHOD: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. RESULTS: Of 51 cases of study group, 14 (27.5%) were normal, 25 (49.0%) were heterozygosity, and 12 (23.5%) were homozygosity. Of 58 cases of control group, 20 (34.5%) were normal, 30 (51.7%) were heterozygosity, and 8 (13.8%) were homozygosity. But the difference between two groups was not significant (p=0.190). CONCLUSION: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the study for MTHFR mutation should be included in the workup of recurrent spontaneous abortion.

Common Mutation of Methylenetetrahydrofolate Reductass and Homocysteine in Patients with Coronary Artery Disease / 대한면역학회지

Recently the alanine/valine (A/V) polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, has been reported to its association with coronary artery disease. lhe homozygous of C677T mutation (VV genotype) correlates with increased plasma homocysteine levels as a result of the reduced activity and increased thermolability of MTHFR. We investigated whether this rnutation and homocysteine influence risk for coronary artery disease (CAD) in normal control subjects and CAD patients and two risk groups, A (>2 risk factors) and B (<1 risk factor). The MTHFR genotype and plasma homocysteine were determined by PCR followed by HinA digestion and high performance liquid chromatography (HPLC) system, respectively. From this study, statistical significance of V mutation of MTHFR between four groups was not found. Homocysteine level was the highest in CAD patients and the lowest in risk group B. Plasma homocysteine level in VV genotype of CAD patients was significantly higher than in other two genotypes and normal control subjects. We concluded that homozygisty for the C677T mutation of MTHFR was not an independent risk factor of CAD but associated with a prediposition to increased plasma homocysteine levels in CAD patients.