Correlación genotipo-fenotipo en miocardiopatía hipertrófica: un estudio multicéntrico en Portugal y España sobre la variante p. Arg21Leu de TPM1 / Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p. Arg21Leu variant

Introducción y objetivos: TPM1 es uno de los principales genes en la miocardiopatía hipertrófica (MCH). La información clínica sobre portadores es relativamente escasa, lo cual limita la interpretación de los estudios genéticos. Nuestro objetivo es establecer la correlación genotipo-fenotipo de la variante p.Arg21Leu de TPM1 en una serie de familias. Métodos: Se evaluó el TPM1 mediante secuenciación de nueva generación en 10.561 probandos con cardiopatías hereditarias. Se genotipificó a los familiares mediante Sanger. Se analizaron la cosegregación, las características clínicas y los eventos cardiovasculares. Se estimó la distribuición geográfica de las familias en Portugal y España. Resultados: Se identificó la variente p.Arg21Leu de TPM1 en 25/4.099 (0,61%) casos con MCH y estaba ausente en 6.462 controles con otras cardiopatías familiares (p<0,0001). Se identificó a 83 portadores (31 probandos). La LOD score combinada para cosegregación fue 3,95. La probabilidad acumulada de diagnóstico en portadores a los 50 años fue del 50% para los varones y el 25% para las mujeres. El 17 de los varones y el 46% de las mujeres no estaban afectadas a los 70 años. El grosor medio del ventrículo izquierdo fue 21,4 ±7,65mm. El riesgo de muerte súbita-MCH fue bajo en 34 (77,5%), intermedio en 8 (18%) y alto en 2 (4,5%) de los portadores. La supervivencia libre de eventos cardiovasculares fue del 87,5% a los 50 años. El 6% de los portadores eran homocigotos y el 18% tenían una variante adicional. El origen de las familias se concentró en Galicia, Extremadura y norte de Portugal, lo que indica un efecto fundador. Conclusiones: P.Arg21Leu es una variante patogénica de TPM1 asociada con MCH de penetrancia tardía/incompleta y pronóstico generalmente favorable (AU)

Introduction and objectives: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. Methods: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. Results: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect. Conclusions: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis (AU)

Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

INTRODUCTION AND OBJECTIVES: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. METHODS: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. RESULTS: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect. CONCLUSIONS: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis.

Hipercolesterolemia familiar en Gran Canaria: mutación con efecto fundador y alta frecuencia de diabetes / Familial hypercholesterolemia in Gran Canaria: Founder mutation effect and high frequency of diabetes

Introducción: Gran Canaria es una región de aislamiento genético para hipercolesterolemia familiar, debido a una mutación fundadora, p.[Tyr400_Phe402del], en el gen del receptor de LDL (LDLR). Datos iniciales indican que sus portadores podrían tener una alta prevalencia de diabetes. Material y métodos: Se reclutó a los pacientes mayores de 30 años con hipercolesterolemia familiar y mutación confirmada en LDLR en un hospital de tercer nivel de Gran Canaria y se comparó la prevalencia de diabetes y otros datos clínicos entre los portadores de p.[Tyr400_Phe402del] y los de otras mutaciones en LDLR. Resultados: El 76,4% de los 89 participantes era portador de p.[Tyr400_Phe402del]. En ese grupo la prevalencia de diabetes fue significativamente más alta (25 vs. 4%, p=0,045). Dichos casos también tenían mayor prevalencia de enfermedad cardiovascular y niveles más altos de colesterol LDL y triglicéridos. No hubo diferencias en edad, peso, índice de masa corporal, cintura, edad de inicio y tiempo de tratamiento con estatinas. Sin embargo, sí precisaban más a menudo inhibidores de PCSK9 (51,5 vs. 24%, p=0,027). Conclusiones: La mutación p.[Tyr400_Phe402del] se asocia a una elevada prevalencia de diabetes, no explicada por factores de riesgo clásicos, como la edad, la obesidad o el uso prolongado de estatinas.(AU)

Introduction: Gran Canaria is a region of genetic isolation of familial hypercholesterolemia due to a founder mutation, p. [Tyr400_Phe402del], in the LDL receptor (LDLR) gene. Initial data suggest that its carriers could have a high prevalence of diabetes. Material and methods: Patients over 30 years of age with familial hypercholesterolemia and a confirmed mutation in LDLR were recruited from a tertiary hospital in Gran Canaria. The prevalence of diabetes and other clinical data were compared among carriers of p. [Tyr400_Phe402del] and those with other LDLR mutations. Results: 76.4% of the 89 participants were carriers of p.[Tyr400_Phe402del]. The prevalence of diabetes in this group was significantly higher (25 vs. 4%, P=.045). These cases also had a higher prevalence of cardiovascular disease and higher levels of LDL cholesterol and triglycerides. There were no differences in age, weight, body mass index, waist, age of onset, and time of statin treatment. However, they required PCSK9 inhibitors more often (51.5 vs 24%, P=.027). Conclusions: The mutation p.[Tyr400_Phe402del] is associated with a high prevalence of diabetes, not explained by classic risk factors, such as age, obesity, or long-term use of statins.(AU)

Familial hypercholesterolemia in Gran Canaria: Founder mutation effect and high frequency of diabetes. / Hipercolesterolemia familiar en Gran Canaria: mutación con efecto fundador y alta frecuencia de diabetes.

INTRODUCTION: Gran Canaria is a region of genetic isolation of familial hypercholesterolemia due to a founder mutation, p. [Tyr400_Phe402del], in the LDL receptor (LDLR) gene. Initial data suggest that its carriers could have a high prevalence of diabetes. MATERIAL AND METHODS: Patients over 30 years of age with familial hypercholesterolemia and a confirmed mutation in LDLR were recruited from a tertiary hospital in Gran Canaria. The prevalence of diabetes and other clinical data were compared among carriers of p. [Tyr400_Phe402del] and those with other LDLR mutations. RESULTS: 76.4% of the 89 participants were carriers of p.[Tyr400_Phe402del]. The prevalence of diabetes in this group was significantly higher (25 vs. 4%, P=.045). These cases also had a higher prevalence of cardiovascular disease and higher levels of LDL cholesterol and triglycerides. There were no differences in age, weight, body mass index, waist, age of onset, and time of statin treatment. However, they required PCSK9 inhibitors more often (51.5 vs 24%, P=.027). CONCLUSIONS: The mutation p.[Tyr400_Phe402del] is associated with a high prevalence of diabetes, not explained by classic risk factors, such as age, obesity, or long-term use of statins.

La endogamia como causa de consanguinidad y su asociación con anomalías congénitas / Endogamy as a cause of consanguinity and its association with congenital anomalies

El papel de la endogamia como causa de homocigosidad en la salud humana es un foco de interés en genética médica, debido a su relación con anomalías congénitas y patologías genéticas recesivas. Es un tema importante a pesar de que las tasas de uniones consanguíneas en ciertas sociedades han disminuido con el tiempo; sin embargo, en algunas comunidades se han mantenido estables o han aumentado. La consanguinidad es practicada hasta en el 10% de la población mundial, y los motivos más comúnmente citados son socioculturales y socioeconómicos. Aunque se ha visto una disminución de esta práctica, probablemente por la migración urbana y el aumento de las tasas de educación, la consanguinidad continúa practicándose en todo el mundo. Los efectos más significativos sobre los resultados reproductivos se deben, principalmente, a condiciones hereditarias autosómicas recesivas, que también aumentan la frecuencia de algunos desórdenes médicos. El objetivo de esta revisión es dar a conocer la epidemiología y los factores predisponentes de la consanguinidad, así como presentar la evidencia actual de la asociación entre la consanguinidad originada en la endogamia y las anormalidades congénitas y patologías médicas como consecuencia de trastornos genéticos mendelianos. Se requiere un enfoque culturalmente apropiado para el asesoramiento genético en relación con la endogamia

The role of consanguinity as a cause of homozygosity in human health is a focus of interest in medical genetics, due to its relationship with congenital anomalies and recessive genetic pathologies. This is an important issue since the rates of consanguineous unions in certain societies have decreased over time, but have remained stable or have increased in others. Consanguinity is practiced in up to 10% of the world population, and the most common reasons are sociocultural and socioeconomic factors. Although there has been a decrease in this practice, probably due to urban migration and an increase in education rates, consanguinity continues to be practiced throughout the world. The most significant effects on reproductive outcomes are mainly due to autosomal recessive hereditary conditions, that also increase the frequency of medical disorders. The aim of this review is to present the current evidence of the association between consanguinity originating from endogamy, with congenital abnormalities and medical disorders originated from mendelian genetic pathologies. A cultural appropriate approach is required for genetic counseling in relation to consanguineous endogamy

New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada. / Nueva mutación asociada a poliquistosis renal autosómica dominante con efecto fundador localizada en la Alpujarra de Granada.

OBJECTIVE: To demonstrate that the variant not described in PKD1 gene c.7292T> A, identified in four families from the Alpujarra in Granada, is the cause of autosomal dominant polycystic kidney disease (ADPKD). This variant consists of a transversion of thymine (T) by adenine (A) that at the level of the Polycystin 1 protein produces a change of leucine (Leu / L) by Glutamine (Gln / Q) in position 2431 (p.Leu2431Gln). METHOD: Sociodemographic and clinical variables were registered using clinical histories, genealogical trees, ultrasounds and genetic analysis to ADPKD and healthy individuals belonging to these families in the context of segregation study. RESULTS: All PKD individuals carried the c.7292T>A variant in heterozygosis, whereas healthy ones did not. Among all ADPKD patients, 62.9% were women. ADPKD diagnosis was made at 29.3 ± 15.82 years, after having the first child in 64.8%. The main reasons for diagnosis were family history and hematuria episodes. The onset of renal replacement therapy (RRT) occurred at 55.8 ± 7.62 years (range 44-67), and death at 63 ± 92.2 years (range 48-76), being the cause unknown, cardiovascular and insufficiency kidney the most frequent; the median of renal survival was established at 58.5 ± 0.77 years and the median survival of patients at 67.2 ± 3.54 years. No differences in kidney and patient survivals were observed according to sex. Among deceased patients, 52.2% required RRT and 94.4% suffered from renal failure. CONCLUSIONS: The variant c.7292T>A in PKD1 gene is responsible for the disease, and its distribution in the Alpujarra region of Granada suggests a founder effect. In ADPKD it is necessary to perform segregation studies that help us to reclassify genetic variants, in this case from indeterminate to pathogenic.

Dr. Eduardo Sabas Alomá, profesor de la Escuela Cubana de Medicina

El Dr. Eduardo Sabas Alomá cursó la carrera de Medicina en la Universidad de La Habana y realizó estudios de postgrado en las universidades Harvard, Estados Unidos y San Marcos, Perú. Participó en actividades revolucionarias y políticas contra el gobierno del dictador Gerardo Machado que lo condujeron al exilio en los Estados Unidos, regresó a Cuba en 1937. Después del golpe de Estado de Batista en 1952, fue cesanteado por sus actividades contra el régimen. Profesor de Fisiología en la Facultad de Medicina de la Universidad de La Habana y profesor de Bacteriología de la Escuela de Enfermeras, ubicada en el Hospital Universitario "Calixto García", también trabajó como médico en el propio hospital y en Maternidad Obrera. Al triunfo revolucionario, permaneció en el claustro de profesores de la Escuela de Medicina, mientras que la mayoría renunciaba y marchaba a los Estados Unidos alentados por la contrarrevolución. Fundador del Instituto de Ciencias Básicas y Preclínicas "Victoria de Girón". Profesor Titular de Fisiología.

Dr. Eduardo Sabas Alomá studied Medicine in the University of Havana and carried out postgraduate studies at Harvard University, the United States of America and at the University of San Marcos in Peru. He participated in revolutionary and political activities against the government ruled by the dictator Gerardo Machado that led him to the exile in the United States. He returned to Cuba in 1937. After Batista´s coup d´état in 1952, he was interrupted because of his activities against the regime. He was professor of Physiology in the Medical Faculty of the University of Havana and professor of Bacteriology in the Nursing School located in "Calixto García" University Hospital; he also worked as a doctor in this hospital and in "Maternidad Obrera" Hospital. After the triumph of the Revolution, he was member of the Medical School teaching staff while most of the doctors renounced their professional work and went to the United States of America encouraged by the counterrevolution. He was founder of the Higher Institute of Basic and Pre-Clinical Sciences "Victoria de Girón" and Full Professor of Physiology

Dr. Enrique Suárez Hernández, egregio profesor del Instituto de Ciencias Básicas y Preclínicas "Victoria de Girón"

El Dr. Enrique Alberto Suárez Hernández matriculó en la Universidad de La Habana la carrera de Medicina en 1938 y se graduó en 1945. Ejerció como médico Municipal en Oriente, como médico forense en Banes, médico en Guanabacoa y profesor de Anatomía en la Escuela de Medicina de la Universidad de La Habana. En los años de la clandestinidad, colaboró con combatientes y campesinos que iban a verlo por problemas de salud. Al triunfo revolucionario se incorporó a las Milicias Nacionales Revolucionarias, fue fundador de los Comités de Defensa de la Revolución y miembro de la Central de trabajadores de Cuba. Participó en movilizaciones y trabajos voluntarios. Fundador del Instituto de Ciencias Básicas y Preclínicas "Victoria de Girón", Profesor Titular de Anatomía.

Dr. Enrique Alberto Suárez Hernández enrolled in the medical studies at the University of Havana in 1938 and graduated in 1945. He worked as Municipal Doctor in the East of Cuba, forensic doctor in the region of Banes, doctor in Guanabacoa, and Professor of Anatomy in the Medical School of the University of Havana. During the years of the clandestineness, he collaborated with combatants and farmers that went to see him with health problems. After the triumph of the Cuban Revolution, he became member of the National Revolutionary Militia. Dr. Enrique was one of the founders of the "Comités de Defensa de la Revolución" (CDR) and a member of the "Central de Trabajadores de Cuba" (CTC). He participated in mobilizations and voluntary works. Dr. Enrique Suárez Hernández was one of founders of the Institute of Basic and Pre-Clinical Sciences "Victoria de Girón"; full professor of Anatomy.

Decifrando o "mistério dos gêmeos": vinte anos de pesquisa em Cândido Godói, Rio Grande do Sul / Solving the "twins mystery": twenty years of research in Cândido Godói, Rio Grande do Sul state

Cândido Godói (CG) é um pequeno município brasileiro localizado no noroeste do Rio Grande do Sul e é conhecido como "Cidade dos Gêmeos" devido à alta taxa de nascimentos gemelares na região. Diante de um fato tão notável, muitas explicações foram sugeridas. Entre estas teorias, a que mais recebeu atenção da mídia, mesmo sem base científica, foi a de que a gemelaridade seria fruto de experimentos de um médico nazista alemão foragido após a Segunda Guerra Mundial. A convite da própria comunidade de CG, nosso grupo de pesquisa trabalha para resolver este mistério desde 1994, analisando diferentes fatores possivelmente relacionados, em especial suas características genéticas. Aqui, nós sumarizamos os principais resultados obtidos em mais de duas décadas de pesquisa, com foco nas particularidades do processo de comunicação dos resultados, aspectos éticos e como os achados científicos naquela comunidade contribuem não apenas com a resolução de um mistério histórico e local, mas também com o estudo de outras questões, como a reprodução humana e as bases biológicas da gemelaridade. (AU)

Cândido Godói (CG) is a small town located in the northwest region of Rio Grande do Sul state which is known as "Town of Twins" because of the high rate of twin births. Many explanations have been suggested for such a noteworthy fact. The theory that has received most attention from the press, despite a lack of scientific evidence, was that twinning would result from experiments conducted by a Nazi German physician who had been a fugitive after World War II. Invited by the local community, our research team has been dedicated to solving this mystery since 1994 by analyzing different possibly related factors, especially genetic characteristics. In this paper, we summarize the main results obtained in more than two decades of research, focusing on the particular communication process of the results, ethical aspects, and how the scientific findings in that community have contributed not only to the resolution of a historical and localized mystery, but also with the study of other issues such as human reproduction and biological basis of the twinning process. (AU)

Estimation of genetic variation in closely related cycad species in Ceratozamia (Zamiaceae: Cycadales) using rapds markers / Variación genética en especies de cícadas estrechamente relacionadas en Ceratozamia (Zamiaceae: Cycadales) mediante el uso de RAPDs

AbstractThe Ceratozamianorstogii complex from Southern Mexico is made up of four closely related taxa and occurs in similar habitats (Quercus forest). All have linear-lanceolate leaflets with great similarity between them, especially in juvenile stages, but differentiate with age. There has been debate regarding delimitation of species due to character loss in herbarium specimens. The aim of this study was to determine the genetic variation, and to measure genetic similarity between the four taxa. We studied populations in Cintalapa (Chiapas) for C. alvarezii and C. norstogii; the Sierra Atravesada (Oaxaca) for C. chimalapensis, and Villa Flores (Chiapas) for C. mirandae. One population for each taxon was sampled (only one population is known for C. alvarezii) 11-15 randomly chosen adult individuals were sampled. Twenty-eight primers were tested of which five were polymorphic using the RAPD'S technique. The data were analyzed using Bayesian methods. Results revealed low genetic diversity, and a differentiation was found between species, suggesting a recent divergence. A previous morphological and anatomical study on the complex has found the taxa to be distinct. However, the results of this study have shown that the C. norstogii species complex is in a divergence process, probably through genetic drift and founder effects. Rev. Biol. Trop. 65 (1): 305-319. Epub 2017 March 01.

ResumenLos cuatro taxa que componen el complejo Ceratozamia norstogii de especies en el sur de México están estrechamente relacionados y se dan en hábitats similares (bosque de Quercus). Todos tienen folíolos linear-lanceolados con gran similitud entre ellos, sobre todo en las etapas juveniles, pero se diferencian con la edad. Ha habido un debate en relación con la delimitación de especies debido a la pérdida de caracteres en especímenes de herbario. Los objetivos de este estudio son determinar la variación genética y medir la similitud genética entre los cuatro taxones en el complejo. Las poblaciones estudiadas están en; Cintalapa, Chiapas para C. alvarezii y C. norstogii, la Sierra Atravesada, Oaxaca para C. chimalapensis y Villa Flores, Chiapas para C. mirandae. Se tomaron muestras de una población de cada taxón (sólo una población es conocida para C. alvarezii) 11-15 individuos adultos elegidos al azar fueron muestreados. Veintiocho primers fueron probados, de los cuales cinco fueron polimórficos mediante la técnica RAPD's. Los datos fueron analizados utilizando métodos bayesianos. Los resultados revelaron baja diversidad genética y la diferenciación encontrada entre las especies sugiere una divergencia reciente. Un estudio morfológico y anatómico anterior en el complejo encontró que los taxa son distintos. Sin embargo, los resultados del presente estudio han demostrado que el complejo C. norstogii aun se encuentra en un proceso de divergencia, probablemente a través de deriva genética y efectos de fundador.

Seguir los pasos de Orlando Fals Borda: Religión, Musica, Mundos de la vida y carnaval

En un tono narrativo, el autor, quien es un veterano sociólogo perteneciente a la segunda generación, sigue su propia trayectoria en la rememoración del fundador de la sociología colombiana, desde cuando era aún un infante y cuando Orlando regresara de los Estados Unidos como un Bachelor of Arts. Músico según era, Orlando compuso entonces una canción por la paz de Colombia, un deseo común en especial para todos los científicos sociales que apenas se vislumbra como horizonte probable a cerca de ocho años luego de la muerte del fundador de la sociología. Tras la semblanza del gran maestro, centrada en el arquetipo del chivo expiatorio, el autor presenta más de siete nuevos argumentos para demostrar la relevancia universal de la obra del pionero: una inédita valoración de la Wertbeziehung u orientación valorativa de Orlando como miembro de la rama calvinista del protestantismo, empero, en su caso volcado a encontrar índices de salvación ya no en oro o poder, como sostenía Weber, sino en el pueblo, casi como si se tratara de una paráfrasis del lema del filósofo Espinoza: Deus, sive populus (Dios, esto es el pueblo); el carnaval como una inspiración epistemológica; talento musical y escucha profunda a las voces del pueblo; talento inusual para el análisis dentro de una teoría integrada; sólida preferencia por los mundos de la vida; épica de no violencia y de disidanza (disidencia con danza); una inusual sensibilidad por la equidad y el equilibrio de género, cuya génesis es explicada por la formación vital en la familia de Orlando.

In a narrative mood, the author, a sénior sociologist of the secondgeneration, follows his proper path in the remembrance of the founder of the colombian sociology, Orlando Fals Borda, a path which has been imprinted by the long sequence of violences since the 9th of april of 1948, when he was a child and when Orlando returned as a young bachellor of arts to the country. Also musician, Orlando composed then a song for the peace of Colombia, a common desire specially for all the social scientists only now approching in a new horizon, at eigth years of the foundefdeath. After that recollection of the figure of the great master, centered in the archetype of the scapegoat, the author present more than seven new arguments to demostrate the universal relevance of the work of the pioneer: a new aproach to the concept of senti-pensamiento; a inedit valuation of his Wertbezieung (reference to values) as a member of the calvinistic branch of protestantism, nothwithstanding turning to the signs of the people as Índices of predestination, almos fast in the mood of a paraphrasis of a motto of Espinoza: Deus, sive populus, God, that means the people; carnival as a epistemologhical inspiration; musical talent and deep listening to people's voices; a gift for analysis in a synthetic and integrated theory; sound preference for the worlds of life; an ephic of non-violence and disidanza; an inusual sensitivity to gender equity and gender balance, whose genesis is here explained in the vital formation in his family.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family / Enfermedad de Charcot Marie Tooth (CMT4A) por mutacion en el gen GDAP1: reporte de una familia colombiana

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Antecedentes: Las mutaciones del gen GDAP1 son causantes de la enfermedad de Charcot Marie Tooth tanto autosómica dominante como recesiva, y se han reportado más de 40 mutaciones distintas. La mutación recesiva Q163X ha sido descrita en pacientes de ascendencia española y se ha demostrado una mutación fundadora originaria de España en pacientes de origen suramericano. Describimos las características físicas e histológicas y el impacto molecular de la mutación Q163X en una familia colombiana. Objetivo: Se describe el impacto de la mutación Q163X en las características físicas, histológicas y moleculares en una familia colombiana. Métodos: Se describe dos pacientes de sexo femenino, hijas de padres consanguíneos, quienes presentaron inicio de síntomas en los dos primeros años de vida, mostrando deterioro funcional severo, sin evidencia de dismorfía, disfonía o parálisis diafragmática. Los estudios de electrofisiología mostraron una neuropatía sensitiva y motora con patrón axonal. Se solicitó la secuenciación del gen GDAP1, y el estudio identificó una mutación homocigota puntual (c. 487 C>T) en el exón 4, causando un codón de parada prematuro (p. Q163X). Este resultado confirma el diagnóstico de Enfermedad de Charcot Marie Tooth, tipo 4A (recesiva, tipo axonal). Resultados: Las pacientes fueron remitidas al servicio de Fisiatría para evaluación de métodos de asistencia para deambulación. Ellas reciben seguimiento por el servicio de Neumología, quienes vigilan la función pulmonar y el desarrollo de parálisis diafragmática. Se brindó asesoramiento genético. La genealogía del paciente, las características fenotípicas y los hallazgos en los estudios electrofisiológicos son herramientas valiosas en el enfoque clínico del paciente con CMT, de forma que se pueda plantear una posible mutación causal. Se debe considerar la presencia de mutaciones en el gen GDAP1 en pacientes de origen suramericano, en especial la mutación Q163X, como causa de CMT4A.

GENETIC STATUS, SOURCE AND ESTABLISHMENT RISK OF THE GIANT TIGER SHRIMP (PENAEIDAE: Penaeus monodon), AN INVASIVE SPECIES IN COLOMBIAN CARIBBEAN WATERS / Estado genético, origen y riesgo de establecimiento del camarón tigre gigante (Penaeidae: Penaeus monodon), una especie inavasora en aguas del Caribe colombiano

The tiger shrimp (Penaeus monodon) is an Indo-Pacific species. Its global production between 1970 and 1980 exceeded all other shrimp species, which favored its introduction and cultivation outside its natural range in several countries of Africa, Europe, USA and South America. It is currently found in the coast of the Atlantic Ocean (Mexico, United States, Puerto Rico, Brazil, Guyana, Venezuela and Colombia). Despite the risk involved, no studies have been conducted to evaluate their impact as a possible invasive species and their genetic condition. This study evaluated the genetic status and population origin of P. monodon in the northernmost Colombian Caribbean, analyzing the mitochondrial DNA control region (mtDNA-CR). 16 individuals were randomly collected from Golfo de Salamanca and 342 original Indo-Pacific sequences were obtained from GenBank. Parameters of genetic diversity and genetic relationships were analyzed. These results were a total of 358 sequences compared and 303 haplotypes identified. Three haplotypes were identified in the Colombian population. This results showed lower genetic diversity compared with Indo-Pacific populations. These haplotypes were closely related to those found in samples from the Philippines and Taiwan. We discuss the need to create a regional network to characterize the established populations in the Great Caribbean, with the purpose of inferring colonization processes and the establishment of management measures.

El camarón tigre (Penaeus monodon) es una especie del Indo-Pacífico. Su producción mundial entre 1970 y 1980 superó todas las otras especies de camarón, lo que favoreció su introducción y cultivo fuera del área de distribución natural en varios países de África, Europa, EE.UU. y América del Sur. Actualmente se encuentra en la costa del Océano Atlántico (México, Estados Unidos, Puerto Rico, Brasil, Guyana, Venezuela y Colombia). A pesar del riesgo que implica, no se han realizado estudios para evaluar su impacto como posible especie invasora y su condición genética. Este estudio evaluó el estado genético y el origen de la población de P. monodon en el norte del Caribe colombiano, analizando la región control del ADN mitocondrial (ADNmt-CR). 16 individuos fueron recolectados al azar del Golfo de Salamanca y 342 secuencias originales de muestras del Indo- Pacífico fueron obtenidas de GenBank. Se analizaron los parámetros de diversidad genética y las relaciones genéticas. Se analizaron un total de 358 secuencias y se identificaron 303 haplotipos. En la población de Colombia se identificaron tres haplotipos, mostrando una baja diversidad genética en comparación con las poblaciones del Indo-Pacífico. Estos haplotipos se encontraron cercanamente relacionados con secuencias obtenidas de muestras de Filipinas y Taiwán, principalmente. Se discute la necesidad de crear una red regional para caracterizar las poblaciones establecidas en el Gran Caribe, con el propósito de inferir los procesos de colonización y el establecimiento de medidas de manejo.

La creación de la Carrera de Psicología en la UBA: momentos antecedentes, vicisitudes de su implementación y acontecimientos inmediatos / The creation of the Course of Psychology at the University of Buenos Aires: background, the hardships of its implementation and the following events

Un horizonte político inestable y un clima de continuidades y discontinuidades enmarca la polémica que sobre el diseño, definición y situación de la Psicología, se hace presente en las instituciones académicas y aplicativas. Las transformaciones conceptuales resultantes de esos debates, se inscriben en los momentos fundacionales de la carrera de Psicología. Instalan inadvertidamente la inercia de la tradición académica e introducen los saberes de instituciones de Psicología aplicada, hasta entonces fuera del dispositivo de transmisión. Se busca iluminar en toda su complejidad el origen plural de múltiples tradiciones que convergen en los momentos fundacionales de la carrera de Psicología...