RESUMO
INTRODUCTION: Mutations in the glucokinase gene (GCK) produce a subtype of Maturity onset diabetes in the young (MODY), named MODY 2. To date over than 190 different mutations have been identified, distributed over the coding regions and the exon-intron boundaries of the gene. The aim of this work was to study the nature and frequency of mutations in the GCK gene, in a MODY clinically characterized Argentinean population. MATERIAL AND METHODS: Seventy unrelated individuals were selected based on MODY clinical features. The study methodology consisted in PCR amplification of the coding regions of the GCK gene, SSCP electrophoresis analysis of the amplified fragments and direct sequencing of the fragments with abnormal electrophoresis pattern. RESULTS: We identified a total of six patients with mutations in the GCK gene. This included two novel mutations: g.1831C>A, g.3792T>A, one already reported by our group, g.168fsdelC (same mutation in two non-related patients) and two already reported: p.Gln138Pro and p.Gly261Glu. With that data, we could establish the prevalence of MODY 2 among the patients in study reaching to 8.6%. DISCUSSION: The main contribution of this study is to inform about two novel mutations not described to date and to make an approach to the establishment of the prevalence of MODY 2 in the population under study. These findings contribute to confirm the allelic heterogeneity of GCK gene mutations and may provide an insight into the structure-function relationship of the GCK.
Assuntos
Diabetes Mellitus Tipo 2/genética , Testes Genéticos , Glucoquinase/genética , Adulto , Argentina , Glicemia/genética , Análise Mutacional de DNA , Humanos , Mutação , Linhagem , Fenótipo , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
The authors present the results of a study conducted using time series data from the 1993--2001 period in order to characterise the clinical behaviour of bovine paratuberculosis. The case data, confirmed by macroscopic examination, enzyme-linked immunosorbent assay (ELISA) and comparative tuberculin test, came from the herd health register, located in Tandil in the province of Buenos Aires, Argentina. The upper limit of customary variation was observed in April, with an incidence of 2.5%. In 1997, 1999, 2000 and 2001 the disease was epidemic and a peak of 5.6% occurred in March 1999. Over the long term a rise in the total annual incidence was observed, from 0.7% in 1993 to 10.2% in 2001. Knowledge about the epidemiology of paratuberculosis will help to control the disease and minimise its impact on the national economy, and will also provide new information for use in public health.
Assuntos
Doenças dos Bovinos/epidemiologia , Paratuberculose/epidemiologia , Saúde Pública , Animais , Argentina/epidemiologia , Bovinos , Doenças dos Bovinos/prevenção & controle , Doenças dos Bovinos/transmissão , Ensaio de Imunoadsorção Enzimática/veterinária , Humanos , Incidência , Paratuberculose/prevenção & controle , Paratuberculose/transmissão , Teste Tuberculínico/veterináriaRESUMO
[Introducción] En América Latina se desarrollaron diversos cambios en salud animal en los últimos años. Por un lado se lograron avances en el control y erradicación de diversas enfermedades, estableciéndose áreas y países libres de algunas de ellas, mientras que por otra parte se sufrió la aparición de enfermedades nuevas y/o emergentes. Esto determinó que se le brinde especial importancia en los sistemas de salud animal a los programas relacionados a la vigilancia epidemiológica (VE).
Assuntos
Saúde Pública Veterinária , Monitoramento Epidemiológico , Sistemas de InformaçãoRESUMO
In order to compare the reliability of serological and parasitological techniques for the diagnosis of porcine trichinellosis from endemic areas in Argentina, 116 pigs were studied: 61 animals from two separate outbreaks and 55 from a small abattoir. Direct diagnostic techniques included trichinoscopy and the artificial digestion method. Indirect diagnostic tests used in this study were the enzyme-linked immunosorbent assay (ELISA), employing the excretory-secretory products of muscle larvae (ML) as antigen, and the indirect immunofluorescence assay using as antigen ML in suspension (IIF-susp), cryostat sections of infected rat muscle or of free ML (IIF-slide). The percentage of parasitologically positive pigs was invariably lower than that of serologically positive animals (IIF-slide), even when digestion studies were carried out individually with a greater amount of muscle sample than required by current regulations. Close correlation was found between IIF using as antigen tissue sections and IIF using free ML sections, while IIF-susp proved unsuitable for diagnosis since this assay presented a high percentage of false negative results (20%). The IIF-slide technique proved positive in all parasitologically positive animals. ELISA rendered a lower percentage of positive reactions than IIF-slide, especially when worm burden was low. Since most parasitologically positive animals rendered at least two positive serological tests (two variations of IIF or IIF plus ELISA), those negative by digestion and positive by two serological methods were strongly suspected of having trichinellosis. Upon studying swine from a abattoir it was found that 9% of the pigs were positive when assayed by two serological techniques, but Trichinella spiralis infection could not be parasitologically confirmed. To sum up, serological methods may be used for screening all pigs and positive findings should be tested by the digestion method by analysing a greater quantity of pork than that required by current regulations, above all in areas with reported clinical trichinellosis in humans, to ensure that the pork is safe for human consumption.
Assuntos
Antígenos de Helmintos/análise , Doenças dos Suínos/diagnóstico , Trichinella spiralis/isolamento & purificação , Triquinelose/veterinária , Matadouros , Animais , Argentina/epidemiologia , Diafragma/parasitologia , Surtos de Doenças/veterinária , Eletroforese em Gel de Poliacrilamida , Ensaio de Imunoadsorção Enzimática/veterinária , Fezes/parasitologia , Técnica Indireta de Fluorescência para Anticorpo/veterinária , Humanos , Camundongos , Microscopia de Fluorescência/veterinária , Suínos , Doenças dos Suínos/epidemiologia , Doenças dos Suínos/parasitologia , Língua/parasitologia , Trichinella spiralis/imunologia , Triquinelose/diagnóstico , Triquinelose/epidemiologia , Triquinelose/parasitologiaRESUMO
Se presenta la primer experiencia recogida en el primer consultorio interdisciplinario para el estudio integral de los factores de riesgo aterogenico (FRA) en la Argentina. Se analizan los resultados preliminares de esta accion medica en la prevencion primaria y secundaria de la enfermedad aterosclerotica y se realizan recomendaciones basadas en los hallazgos relevantes del estudio
Assuntos
Humanos , Masculino , Feminino , Aterosclerose/prevenção & controle , Doenças Cardiovasculares/prevenção & controle , Fatores de Risco , ArgentinaRESUMO
Se determinó la prevalencia de microalbuminuria(Mi) y macroproteinuria(Ma) y otras complicaciones en diabéticos en un estudio multicéntrico en la Argentina. Se entrevistaron 214 pacientes sin selección previa, se evaluó historia clínica, se dividió por tipo de diabetes. La Mi se realizó por radioinmunoanálisis o inmunoturbidimétrico la Ma por método sulfosalicílico. Se relacionaron con edad, antigüedad y prevalencia de hipertensión,dislipemia y retinopatía. Se aplicó para análisis el método estadístico DBase con programa EPI INFO 50. Se calcularon estadísticas descriptivas, se aplicó prueba de chi cuadrado con unnivel de significación p=0.05. La población insulinodependiente (DID)n73(34,1), la no insulinodependinte (DNID) n101(47,2), la insulinorrequiriente(DIR)n40(18,7), la edad promedio del DID 34,88+ 16,3; el DNID 64,27 + 9,83; DIR 61,85 + 9,37,lo que mostró una diferencia estadísticamente significativa para el DID con respecto al DNID y al DIR. La antigüedad de la diabetes no mostró diferencias significativas, lo mismo sucedió con la hemoglobina glicosilada para los diferentes grupos.La prevalencia de Mi fue 26,22,23.17,30 y la Ma fue 21,13, 10,9,26,66 respectivamente. El 19,20 careció de datos para la proteinuria. La prevalencia de hipertensión arterial fue para el DID 15.06,DNID 54,45,DIR 57.50, la dislipemia 13,69, 39,60,47,50 y retinopatía 35,10,24.757 y 57,50 respectivamente,la hipertensión y dislipemia mostraron diferencias estadísticamente significativas si se comparaba los DNID y DIR con respecto DID
Assuntos
Humanos , Albuminúria , Diabetes Mellitus/complicações , ProteinúriaRESUMO
Se determinó la prevalencia de microalbuminuria(Mi) y macroproteinuria(Ma) y otras complicaciones en diabéticos en un estudio multicéntrico en la Argentina. Se entrevistaron 214 pacientes sin selección previa, se evaluó historia clínica, se dividió por tipo de diabetes. La Mi se realizó por radioinmunoanálisis o inmunoturbidimétrico la Ma por método sulfosalicílico. Se relacionaron con edad, antig³edad y prevalencia de hipertensión,dislipemia y retinopatía. Se aplicó para análisis el método estadístico DBase con programa EPI INFO 50. Se calcularon estadísticas descriptivas, se aplicó prueba de chi cuadrado con unnivel de significación p=0.05. La población insulinodependiente (DID)n73(34,1), la no insulinodependinte (DNID) n101(47,2), la insulinorrequiriente(DIR)n40(18,7), la edad promedio del DID 34,88+ 16,3; el DNID 64,27 + 9,83; DIR 61,85 + 9,37,lo que mostró una diferencia estadísticamente significativa para el DID con respecto al DNID y al DIR. La antig³edad de la diabetes no mostró diferencias significativas, lo mismo sucedió con la hemoglobina glicosilada para los diferentes grupos.La prevalencia de Mi fue 26,22,23.17,30 y la Ma fue 21,13, 10,9,26,66 respectivamente. El 19,20 careció de datos para la proteinuria. La prevalencia de hipertensión arterial fue para el DID 15.06,DNID 54,45,DIR 57.50, la dislipemia 13,69, 39,60,47,50 y retinopatía 35,10,24.757 y 57,50 respectivamente,la hipertensión y dislipemia mostraron diferencias estadísticamente significativas si se comparaba los DNID y DIR con respecto DID (AU)