Parasitosis intestinales y tisulares y su relación con la eosinofilia en una comunidad indígena Yukpa de la Sierra de Perijá, estado Zulia / Intestinal and tissue parasites and their relation with eosinophilia in a Yukpa Amerindian community from the Mountains of Perijá, state of Zulia

Para determinar la prevalencia de parasitosis intestinales y tisulares y su relación con la eosinofilia en una comunidad indígena Yukpa, se analizaron 91 muestras fecales y sanguíneas. A las muestras fecales se les practicó examen coproscópico y concentrado. Se realizó hematología completa para determinar cuenta blanca y porcentaje de eosinófilos, y en suero se efectuó un test de ELISA para la detección de anticuerpos anti- Toxocara canis y anti- Toxoplasma gondii. Se observó una elevada prevalencia de parasitosis intestinales (90,10%). Se apreció predominio de protozoarios sobre helmintos, siendo para los primeros el más prevalente Blastocystis sp. (51,64%) y para los segundos Ascaris lumbricoides (38,46%). La seroprevalencia de anticuerpos anti-Toxocara canis fue de 24,17% y anti-Toxoplasma gondii de 43.95%. No se observó diferencias estadísticamente significativas entre los grupos de edad y sexo en las diferentes parasitosis intestinales y tisulares. No se encontró asociación entre la seroprevalencia para Toxocara canis y la eosinofilia. Se apreció una asociación estadística significativa entre la presencia de eosinofilia y las helmintiasis. Estos resultados sugieren que existe una alta prevalencia de infecciones parasitarias en estas comunidades debido probablemente a sus costumbres y las condiciones sanitarias en las que habitan.

To determine the prevalence of intestinal and tissue parasites and their relationship with eosinophilia in Yukpa Amerindians, 91 fecal and blood samples were analyzed. The fecal samples underwent microscopic and concentrated examinations. Complete hematology was performed to determine white count and percentage of eosinophils; and ELISA tests were performed on the serum to detect anti-Toxocara canis and anti-Toxoplasma gondii antibodies. A high prevalence of intestinal parasites (90.10%) was observed. The predominance of protozoa over helminths was noted; for the first, the most prevalent were Blastocystis hominis (51.64%), and for the second, Ascaris lumbricoides (38.46%). Seroprevalence of anti-Toxocara canis antibodies was 24.17% and for anti-Toxoplasma gondi, 43.95%. No statistically significant differences were observed between age and sex groups for the different intestinal and tissue parasites. No association between seroprevalence for Toxocara canis and eosinophilia was found. A statistically significant association between the presence of eosinophilia and helminthiasis was observed. These results suggest that there is a high prevalence of parasitic infections in these communities due probably to their customs and the sanitary conditions in which they live.

[The H63D mutation in the HFE gene is related to the risk of hepatocellular carcinoma]. / La mutacion H63D del gen HFE se asocia con un riesgo aumentado de carcinoma hepatocelular .

AIM: To disclose whether mutations in the HFE gene inducing liver iron overload are related to the risk of hepatocellular carcinoma (HCC) in otherwise predisposed patients. PATIENTS AND METHODS: One hundred and ninety-six patients (161 males) diagnosed with HCC and 181 healthy controls were included in the study. All subjects were white Spaniards.C282Y and H63D mutations in the HFE gene were identified in leucocyte genomic DNA using a polymerase chain reaction (PCR) and specific restriction enzymes. RESULTS (CASES/CONTROLS): 1. Genotype distribution: a) C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wild type 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes 9/5, heterozygotes 85/52, wild type 102/124 (0dds ratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6 controls were carriers of heterozygous mixed genotypes. 2. Allele frequencies: a) C282Y mutation: wild type allele 378/339, mutated allele 14/23 (p = 0.11, non significant); b) H63D mutation: wild type allele 289/300, mutated allele 103/62 (0dds ratio 1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, gender and etiology of the underlying liver disease do not influence these findings. CONCLUSION: The C282Y mutation in the HFE gene is not related to the risk of HCC in non-hemochromatosis patients. The H63D mutation is associated with a higher risk of HCC in cirrhotic patients irrespective of their underlying liver disease.

La mutacion H63D del gen HFE se asocia con un riesgo aumentado de carcinoma hepatocelular / The H63D mutation of the HFE gene is related to the risk of hepatocellular carcinoma

Objetivo: comprobar si las mutaciones del gen HFE, que puedeninducir sobrecarga hepática de hierro, guardan relación conel riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetospredispuestos a sufrir este tumor.Material y métodos: se han incluido 196 pacientes (161 varones)diagnosticados de CHC. Ninguno estaba diagnosticado dehemocromatosis. El grupo control estaba constituido por 181 sujetossanos. Todos los sujetos eran españoles de raza blanca.Las mutaciones C282Y y H63D del gen HFE se identificaronmediante reacción en cadena de polimerasa (PCR) sobre ADN genómicoleucocitario utilizando enzimas de restricción específicas.Resultados (casos/controles): 1. Distribución genotípica:a) mutación C282Y: 1/0 homocigotos, 12/23 heterocigotos,183/158 normales (p = 0,07, n.s.); y b) mutación H63D: 9/5homocigotos, 85/52 heterocigotos, 102/124 normales (odds ratio2,00, IC95% 1,29-3,12, p = 0,002). Cuatro casos y seis controleseran heterocigotos compuestos. 2. Frecuencias alélicas: a)mutación C282Y: normales 378/339, mutados 14/23 (p =0,11, n.s.); b) mutación H63D: normales 289/300; mutados103/62 (odds ratio 1,72, IC95% 1,19-2,50, p = 0,004). No seobservaron diferencias en relación con el sexo, la edad o la etiología(VHC, VHB, etílica o mixta) de la hepatopatía previa.Conclusiones: la mutación C282Y no guarda relación con elriesgo de desarrollar CHC en sujetos sin hemocromatosis conocida.La posesión de la mutación H63D se asocia con un riesgo aumentadode desarrollar CHC independientemente de la etiologíade la hepatopatía crónica subyacente

Aim: to disclose whether mutations in the HFE gene inducingliver iron overload are related to the risk of hepatocellular carcinoma(HCC) in otherwise predisposed patients.Patients and methods: one hundred and ninety-six patients(161 males) diagnosed with HCC and 181 healthy controls wereincluded in the study. All subjects were white Spaniards.C282Y and H63D mutations in the HFE gene were identifiedin leucocyte genomic DNA using a polymerase chain reaction(PCR) and specific restriction enzymes.Results (cases/controls): 1. Genotype distribution: a)C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wildtype 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes9/5, heterozygotes 85/52, wild type 102/124 (0ddsratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6controls were carriers of heterozygous mixed genotypes. 2. Allelefrequencies: a) C282Y mutation: wild type allele 378/339, mutatedallele 14/23 (p = 0.11, non significant); b) H63D mutation:wild type allele 289/300, mutated allele 103/62 (0dds ratio1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, genderand etiology of the underlying liver disease do not influence thesefindings.Conclusion: the C282Y mutation in the HFE gene is not relatedto the risk of HCC in non-hemochromatosis patients. TheH63D mutation is associated with a higher risk of HCC in cirrhoticpatients irrespective of their underlying liver disease

[HFE gene mutations, hepatic iron content, and histological severity in hepatitis C virus-induced chronic hepatitis].

OBJECTIVE: To study whether any relationship exists between the C282Y and H63D mutations of the HFE gene, iron liver content, and the severity of histological damage in patients with hepatitis C virus (HCV)-induced chronic hepatitis. MATERIAL AND METHODS: In 72 patients diagnosed with HCV-chronic infection, naïve for antiviral therapy, and undergoing liver biopsy, the Knodell index was established, a morphometric evaluation of hepatic hemosiderin deposits was performed by using a semiautomatic method of image analysis, and mutations of the HFE gene were identified through a polymerase chain reaction on leukocyte genomic DNA by using specific restriction enzymes. The control group for the distribution of HFE genetic variants was composed of 181 healthy individuals with the same ethnic and geographical (white Spaniards) origin. RESULTS: (Cases/controls): 1. Genotype distribution: a) mutation C282Y: no homozygotes, 6/23 heterozygotes, 66/158 without the mutation (not significant, n.s.); b) mutation H63D: 2/5 homozygotes, 26/52 heterozygotes, 44/124 without the mutation (n.s.). compound heterozygotes 2/6. 2. Allele frequencies: a) mutation C282Y: 0.042/0.064 (n.s.); b) mutation H63D: 0.208/0.171 (n.s.). Four C282Y heterozygous patients had stainable liver iron (p=0.015 vs patients without mutations). Sixty-six patients were not carriers of the C282Y mutation; among them, 26.9% of 26 carriers and 15% of 40 non-carriers of the H63D mutation had liver stainable iron (n.s.). Knodell index score, gender, age at diagnosis, mode of transmission, and serum and liver iron values were not related to the HFE genotype. CONCLUSIONS: our results suggest that the C282Y mutation, but not the H63D mutation, of the HFE gene is frequently associated with stainable iron in the liver in HCV-related chronic hepatitis. The HFE genotype is not related to the histological severity of the disease.

Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility.

Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins belong to the ATP-binding cassette (ABC) transporter superfamily. A compensatory regulation of MDR1 and CFTR gene expression has been observed in CFTR knockout rodent intestine and in an epithelial cell line of human colon, whereas a high homology and similar anion binding site are shared by MRP and CFTR proteins. To provide better insight into the relationship among the expression behavior in vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia or severe oligozoospermia. A CFTR mutation analysis performed in both groups of patients supported the involvement of CFTR gene mutations in CAVD phenotype (85%) and in defective spermatogenesis (19%). Quantitative reverse transcription-polymerase chain reaction analysis of testicular tissue showed a CFTR-independent MDR1 and MRP gene expression in human testis, suggesting that the mechanisms underlying CFTR gene regulation in testis are different from those in intestine. These findings should contribute to the understanding of patterns of in vivo expression of CFTR, MDR1, and MRP genes in CFTR-related infertility.

Estudio comparativo de las técnicas de Machado Guerreiro y Elisa en el diagnóstico de infección chagásica / Compartive assay of Machado Guerreiro and Elisa techniques in diagnosis of chagas disease

Se procesaron 241 muestras de donantes voluntarios del banco de Sangre del Estado Zulia de sexo masculino y femenino, en edades comprendidas entre 18 y 30 años; a cada una de las cuales se le practicaron las pruebas de Elisa realizadas en el IVIC utilizando cepas puras del antígeno de T.cruzi, ELISA utilizando un kit comercial y Machado Guerreiro. Ambas técnicas realizadas en el Banco de Sangre del Estado Zulia. De los resultados obtenidos, con la técnica de Machado Guerreiro, 7 sueros resultaron positivos y 234 negativos, con ELISA (Banco de Sangre) 21 positivos y 220 negativos; con ELISA (IVIC) 32 positivos y 209 negativos. La comparación de Machado Guerreiro con ambas ELISA empleando el método de análisis Ji-Cuadrado modificado por Brand-Snedecor, reveló que las diferencias observadas entre los resultados de las técnicas fueron significativas. Evaluando los resultados ELISA (Banco de Sangre) y ELISA (IVIC) se demostró que no hubo diferencias significativas entre ambas pruebas. Los resultados de este estudio demostraron que ELISA es más sensible que Machado Guerreiro ya que detectó cantidades mínimas de anticuerpos específicos para antígenos chagásicos que no fueron detectados por Machado Guerreiro. El uso de la técnica ELISA amplía el rango de seguridad para las transfunsiones sanguíneas en relación a pacientes con infección chagásica