Hyperhomocysteinemia, obesity and cryptogenic stroke.

BACKGROUND: The pathogenic role of hyperhomocysteinemia in cryptogenic stroke is not well established. We aimed to determine homocysteine levels in patients with cryptogenic stroke considering the possible variables that may act as confounders and analyze the influence of obesity on this association. PATIENTS AND METHODS: We conducted a case-control study in 123 patients with cryptogenic stroke aged 42 ± 12 years and in 153 control subjects aged 42 ± 13 years. Serum homocysteine was determined by fluorescence polarization immunoassay. RESULTS: Patients showed statistically higher levels of homocysteine, creatinine and higher BMI than controls (p = 0.045, p = 0.014, p = 0.013), respectively. After multivariate adjustment the differences in homocysteine levels disappeared (p = 0.774). When subjects were classified according to the presence or absence of obesity, the differences in the prevalence of hyperhomocysteinemia (homocysteine >15 µM) were highly significant, being higher in patients than in controls (p = 0.009). Likewise, mean values of homocysteine in obese were higher in cases than in controls (16.9 ± 9.5 µM vs. 10.12 ± 2.5 µM; p = 0.020), remaining significant after adjusting for the above mentioned confounders. CONCLUSION: Although in general, hyperhomocysteinemia does not seem to constitute an independent risk factor for cryptogenic stroke, it significantly increases the risk in obese subjects; therefore it is convenient to decrease its levels in this sub-group to minimize the risk.

[Plasma lipoprotein (a) values in familial defective ligand apo B 100 in a South European population]. / Estudio de los valores plasmáticos de Lp(a) en el defecto familiar de unión de la apo B 100 en una población mediterránea del sur de Europa.

AIMS: 1) to study lipoprotein (a) (Lp(a)) plasma values in subjects with familial ligand-defective apo B 100 (FDB). METHODS: We studied 19 heterozygous FDB subjects (8 males) from 12 families, carriers of R3500Q mutation on apo B gene and 90 controls (34 males). The genetic diagnosis was established with PCR-SSCP analysis and automatic sequencing. In all subjects plasma lipids, apolipoprotein B and Lp(a) levels were determined with standard procedures. RESULTS: Subjects carriers of R3500Q mutation on apo B gene have significantly higher plasma Lp(a) and log transformed Lp(a) values and prevalence of Lp(a) > 30 cut point for coronary heart disease than controls. CONCLUSIONS: Subjects with FDB showed higher Lp(a) plasma values than controls, although the mechanism and the clinical consequences of these result are not known.

Estudio de los valores plasmáticos de Lp(a) en el defecto familiar de unión de la apo B 100 en una población mediterránea del sur de Europa / Plasma lipoprotein a values in familial ligand defective apo B 100 in a south European population

Objetivo: Estudiar los valores plasmáticos de Lp(a) en el defecto familiar de unión de apo B 100 (DFB) en poblaciones sur Europea donde no existen datos al respecto. Métodos: Hemos estudiado a 19 heterocigotos DFB (8 varones), portadores de la mutación R3500Q del gen de la apo B y a 90 controles (34 varones). El diagnóstico genético se realizó por técnica de PCR-SSCP y secuenciación automática. En todos los sujetos se determinó de forma estandarizada las concentraciones plasmáticas de lípidos, apolipoproteína B y Lp(a). Resultados: Los valores plasmáticos de Lp(a) y su transformación logarítmica fueron significativamente mayores en el grupo con DFB frente al grupo control. Además, la prevalencia de Lp(a) > de 30 mg/dl, como punto de corte de alto riesgo para cardiopatía isquemia fue significativamente mayor en el grupo portador de la mutación R3500Q. Conclusión: Los sujetos portadores de la mutación R3500Q del gen de apo B mostraron valores plasmáticos superiores de Lp(a) que los controles, sin que conozcamos por el momento el mecanismo y sus implicaciones clínicas (AU)

[Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. / Identificación y caracterización del primer español con defecto homocigoto familiar de unión de la apolipoproteína B.

BACKGROUND: Familial ligand-defective apolipoprotein B 100 (FDB) is an autosomal inherited disease due to mutations on apo B 100, clinically indistinguishable from familial hypercholesterolemia (FH). We described the first Spanish homozygote for FDB. METHODS: We have screened R3500Q mutation of apo B gene (PCR-SSCP analysis) in a large family with FDB and have identified the first Spanish homozygote for FDB. RESULTS: The homozygote is a 58 year-old man with coronary heart disease, no presence of xanthomata and with total cholesterol and LDL cholesterol plasma levels of 415 and 352 mg/dl. The response to statins and resins was up to 42% for total cholesterol and 51% for LDLc plasma values. The LDL receptor activity was normal in the FDB homozygote. CONCLUSIONS: We have identified and characterised the first Spanish homozygote for FDB (R3500Q mutation). Our data indicate a moderate lipoprotein phenotype in FDB homozygote, different as expected comparing to homozygous FH.

Mola hidatiforme completa en paciente de 51 años / Complete hydatidiform mole in a 51 year-old patient

Presentamos un caso de Mola Hidatiforme Completa que nos parece interesante por tres motivos fundamentales: forma de presentación clínica, dad de la paciente y ciertas particularidades en las pruebas diagnósticas que comentaremos en la exposición del caso (AU)