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1.
J Appl Genet ; 50(2): 173-6, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19433916

RESUMEN

The present study aimed at assessing the frequency of HFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload. A total of 21 patients, all Romanian residents hospitalized with clinical suspicion of iron overload and liver disease, were assayed for C282Y, H63D and S65C mutations, serum ferritin and viral hepatitis markers. Overall, 9 out of the 21 patients (42.86%) were found to harbour mutations in the HFE gene: 4 homozygotes C282Y (19.0%), 1 compound heterozygote C282Y/H63D (4.8%), 1 single heterozygote C282Y (4.8%), 2 single heterozygotes H63D (9.5%), 1 single heterozygote S65C (4.8%), and 12 wild-type cases (57.1%). Among the subgroup of 10 patients with the most prominent signs of iron overload (hyperferritinaemia and/or hepatocyte iron score > or = 1), without hepatocellular carcinoma, the HFE genotypes were conclusive in 5 cases (50%). They had significantly increased ferritin levels compared to wild-type cases (P = 0.029). The inclusion of iron studies during routine clinical visits, coupled with the availability of HFE genotyping for family and population studies, should facilitate the early detection of hereditary haemochromatosis in Romania.


Asunto(s)
Genotipo , Antígenos de Histocompatibilidad Clase I/genética , Sobrecarga de Hierro/genética , Hepatopatías/genética , Proteínas de la Membrana/genética , Mutación , Adulto , Anciano , Femenino , Proteína de la Hemocromatosis , Humanos , Sobrecarga de Hierro/sangre , Sobrecarga de Hierro/etiología , Hepatopatías/complicaciones , Masculino , Persona de Mediana Edad , Rumanía
2.
Clin Microbiol Infect ; 18(1): 86-90, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21668578

RESUMEN

Trichinellosis continues to represent a major concern in Romania, a country that, over the years, has had favourable conditions for the transmission and maintenance of this disease. During the years 2007-2009, Romania has reported to the WHO's Regional Office for Europe the highest incidence of trichinellosis in humans. This study was aimed at analysing the epidemiological, clinical, laboratory and therapeutic aspects of trichinellosis in a well-known Romanian endemic area, and at determining the particular aspects of this disease in children and the adult population. We retrospectively investigated the medical records of patients from two western Romanian counties, diagnosed with trichinellosis and hospitalized between 2007 and 2009. During this period, a total of 91 persons presented with this disease, and the corresponding yearly average incidence was 2.7 cases per 100,000 inhabitants. Patients were aged 3-80 years (mean age 33.3 ± 17.9 years), and most of them were adults (78%). Males accounted for 51.6% of cases. Unemployed adults belonging to the gypsy minority predominated within the study group (46.5%). Myalgia, fever and oedema were the most common symptoms. The mean eosinophil count was 25.1% ± 17.1% (range 1-75.8%), and was significantly higher in adults than in children. All patients were treated with albendazole, and 52.7% had associated corticotherapy. Trichinellosis is still probably the most important parasitic disease in Romania. Recent reports have revealed inadequate application of prophylactic and control measures against this disease. Consequently, public health strategies should be reconsidered, and more efficient and rigorous education of the population is required.


Asunto(s)
Albendazol/uso terapéutico , Triquinelosis/tratamiento farmacológico , Triquinelosis/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Albendazol/administración & dosificación , Albendazol/farmacología , Niño , Preescolar , Femenino , Humanos , Masculino , Persona de Mediana Edad , Salud Pública , Estudios Retrospectivos , Rumanía/epidemiología , Adulto Joven
3.
Clin Microbiol Infect ; 17(11): 1731-4, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21919995

RESUMEN

This report aims to assess the epidemiological characteristics of cystic echinococcosis (CE) in the largest Romanian county (Timis County). Our study group included 182 patients diagnosed with this condition during 2004-2010. The yearly detection rate of new cases was 3.8 cases per 100 000 inhabitants. People over 40 years old accounted for 52.7% of cases. The incidence was higher in women and in rural inhabitants. No statistically significant decline in the number and incidence of CE cases was observed throughout the study period (R(2) = 0.24, p 0.3). Consequently, more efficient implementation of correct public health measures is required to fully prevent and eradicate CE in this region.


Asunto(s)
Equinococosis/epidemiología , Adolescente , Adulto , Distribución por Edad , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Persona de Mediana Edad , Rumanía/epidemiología , Población Rural , Distribución por Sexo , Adulto Joven
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