Resumen En este reporte se llama la atención de los colegas ante la posibilidad de encontrar un caso de enfermedad de Fabry entre múltiples pacientes que consultan. Se exponen las condiciones clínicas de estos pacientes que los hacen únicos, a causa de una enfermedad huérfana. Es posible que muchas de estas condiciones clínicas hayan pasado inadvertidas y al no tenerlas presentes no se tenga un grado de sospecha que lleve al diagnóstico.

Abstract In this report is call the attention of our colleagues the possibility of finding a case of Fabry’s disease within the multitude of patients in our practice. It is expose the clinical conditions of these patients which make them unique, due to a disease denominated as orphan. It is possible that many of these clinical conditions have gone unnoticed and by not having them present prevent/impide us from having a high degree of suspicion which would lead to a diagnosis.

Dieffenbachia picta ("comigo-ninguém-pode") é uma espécie difundida em todo o mundo devido ao seu valor ornamental. Na Argentina, é cultivada nas províncias de clima mais quente e nos arredores da cidade de Buenos Aires. Na primavera de 2007 um grande número de plantas apresentou sintomas de murcha e presença de lesões encharcadas (anasarca) nas folhas inferiores, principalmente em plantas de 4 a 6 meses de idade. Em seguida, constatou-se murcha da planta devido ao apodrecimento do caule e raiz. Um organismo peronosporomycete foi isolado de tecidos afetados. O patógeno foi identificado como Phytophthora nicotianae com base em características culturais, morfologia das estruturas vegetativas e reprodutivas, e testes moleculares baseados na sequência da região ITS do DNA ribossômico. Os testes de patogenicidade foram conduzidos e os postulados de Koch atendidos. Em estudos complementares, as variedades de D. picta Alex, Compact, Marianne e Camilla foram suscetíveis, enquanto a variedade Tropic snow (D. amoena) foi resistente. Este é o primeiro relato de P. nicotianae causando podridão radicular de Dieffenbachia picta na Argentina e nas Américas.

Dieffenbachia picta is a worldwide appreciated crop due to its ornamental value. In Argentina it is cultivated in warm provinces and in the outskirts of Buenos Aires city, where in spring 2007 a great amount of plants were lost in commercial greenhouses. Symptoms such as wilting and soaked lesions in the basal leaves began in four- to six-month-old plants causing plants to wilt due to basal stem and root rot processes. A Peronosporomycete was consistently isolated from diseased tissues. The pathogen was identified as Phytophthora nicotianae based on cultural characteristics, morphology of vegetative and reproductive structures, and on the analysis of the sequence of the nuclear ribosomal internal transcribed spacer (ITS) region. Pathogenicity tests were carried out and Koch's postulates were fulfilled. In complementary studies, the dieffenbachia varieties Alex, Compact, Camilla and Marianne were susceptible to the infection caused by P. nicotianae, whereas Tropic snow (D. amonea) was resistant. This is the first report of P. nicotianae causing stem and root rot of D. picta in Argentina and in the Americas.

The objective of this research was to estimate genetic and environmental dispersion parameters of Hereford cattle raised in Corrientes, a subtropical province in Northeastern Argentina. Data were taken in INTA EEA Corrientes between 1974 to 2002. Records were 4990 weaning weights adjusted to 210 days (WW210) and 3440 weights adjusted to 570 days of age (W570). Data were analyzed using single trait animals models with maternal effects for WW210. For WW210 the model included fixed effects of contemporary group (herd by year of birth by sex subclasses), month of birth, age of dam, prior lactation status of the cow. Whereas for W570 the fixed effects were contemporary group, month of birth, and age in days of the individual at final weight as a covariable. The method of estimation was REML by means of the derivative free algorithm implemented in the MTDFREML package. The random effects were direct and maternal breeding values and permanent environment of the dam for WW210, and direct breeding values for W570. The estimates of (co)variance components, and genetic and environmental parameters obtained were: a) For W210: ó²a = 68,45, ó²m = 113,29, óam = -14,51, ó²pe = 54,73, ó²e = 214,93, ó²p = 436,90, h²a = 0,16, h²m = 0,26, r am = -0,16, c² = 0,12, e² = 0,49; b) For weight adjusted to 570 days: ó²a = 480,03, ó²e = 320,47, ó²p = 800,50, h²a = 0,60, e² = 0,40. The estimated values of the (co)variance components suggest that selection for growth traits is feasible in this subpopulation.

El objetivo de este trabajo fue estimar los parámetros genéticos y ambientales de bovinos de raza Hereford en Corrientes, una provincia subtropical del Nordeste de Argentina. Los datos fueron tomados en el INTA EEA Corrientes entre los años 1074 y 2002. Se emplearon 4092 registros para el carácter peso ajustado a 210 días (I_PESOAJ_210) y 3440 registros para el carácter peso ajustado a 570 días (I_PESOAJ_570). Los datos fueron analizados mediante el Modelo Animal para un único carácter, con efectos maternos para I_PESOAJ_210. Para este carácter, el modelo incluye los efectos fijos grupo contemporáneo (año de nacimiento + sexo), mes de nacimiento, edad de la madre, lactancia previa de la madre y edad en días del animal al destete como covariable. Para I_PESOAJ_570 los efectos fijos fueron grupo contemporáneo, mes de nacimiento y edad en días del individuo al peso final como covariable. El método de estimación fue REML, usando el algoritmo libre de derivadas implementado por el paquete MTDFREML. Los efectos aleatorios fueron los valores genéticos aditivos directos y maternos y el ambiente permanente de las madres para I_PESOAJ_210 y los valores genéticos aditivos directos para I_PESOAJ_570. Las estimaciones de los componentes de (co)variancia, y parámetros genéticos y ambientales obtenidos son: a) Para I_PESOAJ_210: ó²a = 68,45, ó²m = 113,29, óam = -14,51, ó²pe = 54,73, ó²e = 214,93, ó²p = 436,90, h²a = 0,16, h²m = 0,26, r am = -0,16, c² = 0,12, e² = 0,49; b) Para I_PESOAJ_570: ó²a = 480,03, ó²e = 320,47, ó²p = 800,50, h²a = 0,60, e² = 0,40. Los valores estimados de los componentes de (co)variancia indican que la selección por caracteres de crecimiento resultaría factible de aplicar a esta subpoblación.

This study was carried out at INTA Corrientes Experimental Station with data from a stabilized Braford 3/8 Brahman x 5/8 Hereford herd. The objective was to estimate the genetic and environmental parameters for birth weight (PNAC), weight adjusted to 210 days of age (P_AJ_210), and weight adjusted to 570 days of age (P_AJ_570). We used a Multivariate Animal Model and MTDFREML software. A database of growth and genealogy data from 658 samples of Braford males and females corresponding to the period 1992-2004 was processed. Estimates of variance and covariance components and the genetic and environmental parameters were: a) For PNAC: s²a = 6,57, s² m = 2,21, s am = -0,32, s²pe = 0,72, s²e = 7,31, s²p = 16,50, h²a = 0,40, h²m = 0,13, r am = -0,09, c² = 0,04, e² = 0,44; b) For P_AJ_210: s²a = 153,89, s²m = 62,18, s am = -56,47, s²pe = 10,35, s²e = 223,05, s²p = 393,02, h²a = 0,39, h²m = 0,16, r am = -0,58, c² = 0,02, e² = 0,57; c) For P_AJ_570: s²a = 292,95, s²e = 419,02, s²p = 711,97, h²a = 0,41, e² = 0,59. Genetic correlations among the characters analyzed were also calculated: PNAC-P_AJ_210: 0,83, PNAC-P_AJ_570: 0,31, P_AJ_210-P_AJ_570: 0,74. Finally, the genetic value of each individual was obtained (Expected Progeny Differences - EPDs). The combination of these values will allow to improve the characteristics of this breed.

Se ha efectuado un estudio en La Estación Experimental Agropecuaria Corrientes del INTA sobre un rodeo Braford estabilizado 3/8 Brahman x 5/8 Hereford, que tiene como propósito estimar los parámetros genéticos y ambientales para peso al nacer (PNAC), peso ajustado a 210 días (P_AJ_210) y peso ajustado a 570 días (P_AJ_570), mediante el Modelo Animal Multicaracter, utilizando el software MTDFREML. Se procesó una base de datos de 658 registros de producción y genealogía de bovinos de raza Braford, correspondientes al período 1992-2004. Los componentes de varianza y covarianza, y parámetros genéticos y ambientales estimados son: a) Para PNAC: s²a = 6,57, s²m = 2,21, s am = -0,32, s²pe = 0,72, s²e = 7,31, s²p = 16,50, h²a = 0,40, h²m = 0,13, r am = -0,09, c² = 0,04, e² = 0,44; b) Para P_AJ_210: s²a = 153,89, s²m = 62,18, s am = -56,47, s²pe = 10,35, s²e = 223,05, s²p = 393,02, h²a = 0,39, h²m = 0,16, r am = -0,58, c² = 0,02, e² = 0,57; c) Para P_AJ_570: s²a = 292,95, s²e = 419,02, s²p = 711,97, h²a = 0,41, e² = 0,59. Además se calcularon las correlaciones genéticas entre los caracteres analizados: PNAC-P_AJ_210: 0,83, PNAC-P_AJ_570: 0,31, P_AJ_210-P_AJ_570: 0,74. Finalmente se obtuvieron los valores genéticos de los reproductores (DEPs), cuya combinación apropiada permitirá tomar decisiones de selección para el mejoramiento de esta raza.