Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco / No disponible

Objetivo: estudiar la frecuencia de las mutaciones en el genHFE (C282Y, H63D, S65C) en un grupo de 54 pacientes conporfiria cutánea tarda (PCT) y en un grupo de controles sanos (donantesde sangre) en Guipúzcoa. También analizar su relación conlos virus de la hepatitis B y C (VHB, VHC), alcohol y otros factoresde riesgo reconocidos.Métodos: el análisis de las mutaciones se hizo mediante PCR.Se compararon las frecuencias alélicas y genotípicas. Se determinaronla probabilidad y el test de Chi cuadrado.Resultados: no encontramos asociación entre C282Y y PCT(5,76 vs. 5% controles). Se observó una alta frecuencia alélica enla mutación H63D en PCT (34,25%), pero sin ser estadísticamentesignificativa (controles 29,31%), debido a la alta prevalencia deesta mutación en la población vasca. La mutación S65C fue menoren PCT que en controles. Encontramos una idéntica presenciade H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%).La asociación con el VHC se objetivó en el 35,18% de los pacientesy la infección por VHB en el 7,4%. Un 55,55% de los pacientestenía un hábito alcohólico de más de 60 g etanol día. Todoseran negativos para el virus de la inmunodeficiencia humana (VIH)y 1 de las 5 mujeres con PCT tomaba estrógenos.Conclusión: las mutaciones C282Y y H63D no tienen un papelrelevante en los pacientes con PCT en Guipúzcoa. Los factoresexternos (consumo importante de alcohol y VHC) parecen jugarun papel fundamental en el desarrollo de la PCT en nuestrapoblación

Aim: to study the frequency of HFE gene mutations (C282Y,H63D, S65C) in a group of 54 sporadic PCT patients and in agroup of healthy controls (blood donors) from Guipúzcoa, Spain.We studied the association of PCT with HCV, HBV, alcohol abuse,and other established risk factors.Methods: the analysis of mutations was made by PCR. Allelicand genotypic frequencies were compared. Probability was determinedand a Chi-squared test was performed.Results: no association was observed between C282Y mutationand PCT (5.76 vs. 5% in controls). A high H63D mutationfrequency was observed in PCT (34.25%) but was not statisticallysignificant (controls 29.31%) because of the high prevalence ofthis mutation in the Basque general population. The S65C mutationwas lower in PCT than in controls. There is a similar presencefor H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV associationwas observed in 35.18% of patients with PCT. HBVinfected 7.4% of patients. Heavy alcohol intake (> 60 g/day) waspresent in 55.55% of patients. No HIV-infected patients were detected.The study of other risk factors revealed only one of the fivewomen with PCT taking estrogens.Conclusion: our results found no relevant role for C282Yand H63D mutations. External factors such as HCV and alcoholcould be determinant in the development of PCT in the Basquepopulation

Incremento de IL-6 y plaquetas en la exposición crónica a combustiles de biomasa. ¿Estado procoagulante? / Increased IL-6 and platelets during chronic exposure to biomass fuel. A proclotting state?

Antecedentes: Mßs del 90 por ciento de residentes en zonas rurales en el Perú usan biomasa para preparar sus alimentos. Los infartos agudos de miocardio se relacionan con un incremento de las nanopartículas presentes en el ambiente. Objetivos: Conocer si la exposición crónica acombustibles de biomasa se acompa±a de un estado procoagulante. Población de estudio: 185 personas residentes en Chancay (100 Km. al norte de Lima), de las cuales 95 tenían exposición a combustibles de biomasa y 90 no. Metodología: Estudio descriptivo, transversal. A todos los participantes se les hizo: 1. Cuestionario ATS-78, modificado por Accinelli, ya validado en estudios previos. 2. Examen clínico. 3. Hemograma. 4. Determinación de IL-6. Resultados: Se encontró nivelesde IL-6 en 1,84 pg/ml las personas expuestas y de 0,87 pg/ml en las no expuestas (p menor que 0,005) a combustibles de biomasa. Las plaquetas también fueron mßs en los expuestos (269 vs 245 x 103/mm3, p=0,004). Conclusiones: La exposición a combustibles de biomasa generaría un estado de hipercoagulabilidad caracterizado por un incremento de la IL-6 y las plaquetas.

Summarize Precedents: More than 90 per cent of residents in rural zones in Peru uses biomass to prepare his (her, your) food. The sharp (acute) hearts attacks of myocardium relate to an increase of the present nanopartículas in the environment. Aims (Lenses): To know if the chronic exhibition to fuels of biomass accompanies of a condition(state) procoagulante. Population of study: 185 resident persons in Chancay (100 km to the north of Lima), of which 95 had exhibition to fuels of biomass and 90 not. Methodology: descriptive, transverse Study. There became all the participants: 1. Questionnaire ATS-78, modified by Accinelli, already validatedin previous studies. 2. Clinical examination. 3. Hemograma. 4. Determination of IL-6. Results: one found levels of IL-6 in 1,84 pg/ml the exposed persons and of 0,87 pg/ml in not exposed (p menor que 0,005) to fuels of biomass. The platelets also were more in the exposed ones (269 vs 245 x 103/ mm3, p=0,004). Conclusions: The exhibition to fuels of biomass would generate a condition (state) of hipercoagulabilidad characterized by an increase of the IL-6 and the platelets.

Incremento de los niveles de interleuquina 6 en personas expuestas a le±a cuando chacchan coca / Increased IL-6 levels in persons exposed to firewood while chewing (chacchar) coca leaves

Introducción: 4 000 a±os que el hombre utiliza la hoja de coca. Su principal constituyente activo es la cocaína. No se conoce exactamente cómo ejerce su efecto en el organismo humano. Objetivo: Determinar los niveles sericos de IL-6 en personas con el hßbito de chacchar coca que ademßs estßn expuestas a combustibles de biomasa. Material y métodos: Se estudió en Chancay a 100 personas que utilizaban combustibles de biomasa para cocinar seleccionadas por muestreo no probabilistico. Dentro de este grupo se separó a las que ademßs chacchaban coca, que fueron 6, las que se aparearon con no chacchadores de la misma edad e índice de exposición. Se determinó los niveles séricos de IL-6 en ambos grupos. Resultados: La población de chacchadores estuvo formada por cinco mujeres, que chacchaban coca desde 27,3 (intervalo de 10 ß 50) a±os atrßs, con un promedio de edad de 50,16 (intervalo de 30 ß 75) a±os y con un índice de exposición a combustibles de biomasa de 196 horas-a±o. Fue apareada con 15 personas todas de sexo femenino, con un promedio de edad de 42 (intervalo de 29 ß 73) a±os y con un índice de exposición 161,4 de horas-a±o. Todos los chacchadores refirieron sentirse enfermos, lo que sucedió sólo entre el 15,4 por ciento de los no chacchadores. (p = 0,011) Los niveles séricos de IL-6b fueron mßs elevados en los chacchadores de coca. (2,659 vs. 0,952; p = 0,001). Conclusiones: Los chacchadores de ccoca expuestos ademßs a biomasa tenían casi tres veces mßs elevado los niveles séricos de IL-6 comparados con los no chacchadores, por lo que ambas exposiciones con llevarían a una desfavorable respuesta inmune e inflamatoria y a un mayor riesgo de enfermedades vasculares.

Introduction: 4 OOO-year-old man used the coca leaf. Its main active constituent is cocaine. It is not known exactly how it exerts its effect on the human body. Aim: To determine serum levels of IL-6 in people with the habit of coca chacchar are also exposed to biomass fuels. Materials and methods: Chancay was studied in 100 people using biomass fuels for cooking selected by non-probability sampling. Within this group broke away to further chacchaban coca, which were 6, which mated with chacchadores not of the same age and rate of exposure. It was determined the serum levels of IL-6 in both groups. Results: The population of chacchadores consisted of five women who chacchaban coca from 27.3 (range 10 to 50) years ago, with an average age of 50.16 (range 30 to 75) years and with an index of exposure biomass fuels to 196 hours annually. He was paired with 15 people all female, with an average age of 42 (range 29 to 73) years and with an index of 161.4 hours of exposure-year. All spoke chacchadores feel sick, what happened just 15.4 per cent of non chacchadores. (p = 0011) Serum levelsof IL-6 were higher in the chacchadores coca. (2.659 vs. 0.952, P = 0.001) Conclusions: The chacchadores of ccoca also exposed to biomass were almost three times higher serum levels of IL-6 compared with non chacchadores, so that both exposures lead to an adverse immune and inflammatory response and an increased risk of vascular disease.

[Utility of various non-invasive methods for fibrosis prediction among Basque Country patients with phenotypic hemochromatosis]. / Utilidad de los diferentes métodos no invasivos de predicción de fibrosis hepática en pacientes del País Vasco con hemocromatosis fenotípica.

OBJECTIVE: To determine whether the product of multiplying age by liver iron concentration (LIC) (fibrosis index; cut-off, 480,000), platelets, transaminases, and ferritin values are related to the risk of high grade fibrosis. METHODS: A retrospective study of 32 patients with hereditary hemochromatosis (HH) with phenotypic expression. All patients had a liver biopsy with LIC. RESULTS: In 7 patients a magnetic resonance imaging (MRI) scan (1.5 T) was obtained with LIC following Alustiza's protocol. Liver biopsy: fibrosis grade (F) 0-2 in 23 patients; F 3-4 in 9. Fibrosis index (FI) showed a specificity of 68%, sensitivity of 85.7%, positive predictive value (PPV) of 42.8%, and negative predictive value (NPV) of 94.4% for high-grade fibrosis. Platelet count ( < 200,000) revealed a NPV of 94.7% for F3-4. Aspartate transaminase (AST) levels above the upper limit of normal showed a NPV of 94.4%; ferritin levels (> 1,000) a NPV of 75%, and MRI-derived LIC x age (> 480,000) a NPV of 80%. The combination of FI (either by biopsy or MRI) with transaminases, and of platelets with transaminases revealed a NPV of 100%. CONCLUSIONS: FI > 480,000 and platelets < 200,000 have the highest sensitivity for high-degree fibrosis prediction. A negative result allows to discard significant fibrosis in 94% of cases. MRI allows a good fibrosis prediction.

[Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain]. / Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco.

AIM: To study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors. METHODS: The analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed. RESULTS: No association was observed between C282Y mutation and PCT (5.76 vs. 5% in controls). A high H63D mutation frequency was observed in PCT (34.25%) but was not statistically significant (controls 29.31%) because of the high prevalence of this mutation in the Basque general population. The S65C mutation was lower in PCT than in controls. There is a similar presence for H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV association was observed in 35.18% of patients with PCT. HBV infected 7.4% of patients. Heavy alcohol intake (> 60 g/day) was present in 55.55% of patients. No HIV-infected patients were detected. The study of other risk factors revealed only one of the five women with PCT taking estrogens. CONCLUSION: Our results found no relevant role for C282Y and H63D mutations. External factors such as HCV and alcohol could be determinant in the development of PCT in the Basque population.

[Massive hemorrhage due to esophageal varices as a form of presentation of autoimmune hepatitis]. / Hemorragia masiva por varices esofágicas como forma de presentación de una hepatitis autoinmune.

Autoimmune hepatitis is a necro-inflammatory disease of unknown etiology. An acute or fulminant presentation is rare. We report a 18-year-old man presented with acute variceal hemorrhage. The patient was treated with endoscopic sclerotherapy, somatostatin, balloon tamponade and TIPS. The patient died within a week of massive bleeding and hepatic failure. This patient's history strongly suggests that autoimmune hepatitis can be presented as fulminant hemorrhage. The importance of diagnosis and treatment is emphasized to improve prognosis.

Pancreatitis aguda causada por Salmonella enteritidis / Acute pancreatitis caused by Salmonella enteritids

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Hemorragia masiva por varices esofágicas como forma de presentación de una hepatitis autoinmune / Massive hemorrhage due to esophageal varices as a form of presentation of autoimmune hepatitis

La hepatitis autoinmune es una enfermedad inflamatoria progresiva de etiología desconocida. La presentación como hemorragia digestiva por varices esofágicas es rara. Presentamos un varón de 18 años que ingreso con hemorragia digestiva alta secundaria a varices esofágicas. El paciente falleció a los pocos días a pesar de tratamiento con escleroterapia, somatostatina, sonda-balón de Sengestaken y derivación portosistémica percutánea intrahepática. Los datos clínico-analíticos sugerían una hepatitis autoinmune. Se destaca la importancia de efectuar un diagnóstico y tratamiento precoz para mejorar su pronóstico (AU)

[Bleeding of the upper digestive tract due to gastric metastasis of squamous lung carcinoma]. / Hemorragia digestiva alta por metástasis gástrica de un carcinoma escamoso de pulmón.

Bronchogenic lung carcinoma, melanoma and breast cancer are the neoplasms which have most frequently been reported to metastasize to the stomach. These lesions are usually located on the fundus and on the upper part of the gastric body. They are usually asymptomatic with the diagnosis being made at necropsy. We present a patient who developed gastrointestinal bleeding as the first symptom of squamous lung cancer secondary to a gastric metastasis.

[Gastric adenocarcinoma in hamartomatous polyp in Peutz-Jeghers syndrome]. / Adenocarcinoma gástrico sobre un pólipo hamartomatoso en el síndrome de Peutz-Jeghers.

The Peutz-Jeghers syndrome is characterized by gastrointestinal polyposis and mucocutaneous melanin pigmentation. Between the complications are the appearance of gastrointestinal neoplasms. There is an increasing evidence suggesting the hamartoma-adenoma-carcinoma sequence in Peutz-Jeghers syndrome. We present a 32-years-old man with Peutz-Jeghers syndrome who developed an adenocarcinoma arising in a gastric hamartomatous polyp. We discuss the risk to develop gastrointestinal neoplasms and the necessity for periodic surveillance.

[Response to recombinant DNA antihepatitis B vaccine in mentally retarded patients with Down's syndrome. A controlled study]. / Respuesta a la vacuna DNA recombinada antihepatitis B en los deficientes mentales con síndrome de Down. Estudio controlado.

To investigate the response of mentally retarded individuals (MR) with Down's syndrome (Down-MR) to recombinant hepatitis B vaccine, three doses (20 micrograms per dose) were administered on the usual schedule (months 0, 1 and 6) to two groups of MR with mean age of 14.6 years. The first group consisted of 32 MR-Down. The second group consisted of 35 MR other etiologies (non Down-MR). Both had the same sex distribution and similar ages and weight/height index. The post vaccination anti-HBs titers were measured on months 1, 2, 6 and 8. The results could be analysed in 63 MR. Eight months after vaccination, 100% of Down-MR and 91% of non Down-MR developed a response to the vaccine (anti-HBs greater than 10 IU/l). Both groups achieved high antibody titers (geometric mean 4.298 and 6.424, respectively). A significant inverse correlation of anti-HBs with age was found, but not with sex of with the weight-height index. It was concluded that Down-MR in young age have a normal response to recombinant hepatitis B vaccine at the usual dose and schedule. Therefore, the goal to suppress the reservoir of hepatitis B in Down-MR both in institutions for MR and in normal schools should be achieved.