Biomédica: revista del Instituto Nacional de Salud, 2006
Surname frequency (isonymy) is used as a marker of paternal lineage and is used to characterize h... more Surname frequency (isonymy) is used as a marker of paternal lineage and is used to characterize human population structure. Principles of isonymy were used to determine the genetic structure, migration rates, ancestry relations and origins of populations. This analysis was applied to two historically related local populations which currently are considered to be genetically isolated. The genetic relationships and influence zones of the Aranzazu and Marinilla populations were assessed by means of surname frequency analysis. Data originated from database with the title "System of Identification of Beneficiaries of the Social Programs" database or Sisben. Population parameters such as a priori kinship (phi(ii)), population homogeneity with B and C estimators, and Cavalli-Sforza's genetic distance were calculated for (a) three towns of Marinilla and its influence zone and (b) Aranzazu. The Rionegro population served as an external, comparison population. The Aranzazu and M...
Neuropsychology is the discipline that studies the mind-brain-behavior relationship through the a... more Neuropsychology is the discipline that studies the mind-brain-behavior relationship through the analysis of the brain structure and brain processes supporting superior psychological functions such as consciousness, attention, learning, memory, thought, motivation and affection. Neuropsychological disturbances on bipolar disorder patients have been poorly studied when compared to other psychiatric disorders like schizophrenia. However, increasing interest has developed due to it’s implications on the etiology, treatment, prevention, prognosis, adjustment predictors, social competence and quality of life of such patients. This article intends to review the research published relating bipolar disorder with neuropsychological abnormalities up to date. A review of research on different phases was done, including mania, depression or euthymia; comparative studies with schizophrenic patients and the likely influence of psychotropic medication are also discussed.
A review of the concept endophenotype from its historical origins to its actual conception is mad... more A review of the concept endophenotype from its historical origins to its actual conception is made. Besides, an approximation to the methodology used for detecting and validating an endophenotype and its advantages for studying the genetic component of psychiatric diseases, specifically schizophrenia, is performed.
Los betabloqueadores son farmacos que han demostrado eficacia clinica al disminuir tanto la morbi... more Los betabloqueadores son farmacos que han demostrado eficacia clinica al disminuir tanto la morbilidad como la mortalidad de multiples enfermedades cardiovasculares. Como comun denominador todos los bloqueadores beta adrenergicos antagonizan los receptores β1, produciendo en el corazon una respuesta inotropica y cronotropica negativas. Hasta la fecha se han reportado siete polimorfismos en este receptor β1 (1). En uno de ellos, la sustitucion en el nucleotido 1165, genera un cambio de Arginina por Glicina en la posicion 389 (Arg389Gly) localizado en la cola citoplasmatica del receptor que es una de las regiones de interaccion con la proteina G. Estudios in vitro con las dos variantes polimorficas Arg389Gly del receptor, han demostrado que los receptores con Arg389 tienen una mayor interaccion con la proteina G y producen mas AMPc luego del estimulo con agonistas β(2). En la actualidad se desconocen tanto las implicaciones farmacoterapeuticas de estos polimorfismos, como sus frecuenc...
Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETIC COMPONENT IN SQUIZOPHRENIA A review ... more Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETIC COMPONENT IN SQUIZOPHRENIA A review of the concept endophenotype from its historical origins to its actual conception is made. Besides, an approximation to the methodology used for detecting and validating an endophenotype and its advantages for studying the genetic component of psychiatric diseases, specifically schizophrenia, is performed.
Resumen Se revisa el concepto de endofenotipo, desde su origen historico hasta suconcepcion actua... more Resumen Se revisa el concepto de endofenotipo, desde su origen historico hasta suconcepcion actual. Ademas, se hace una aproximacion a la metodologiautilizada para la deteccion y validacion de un endofenotipo, y se analizanlas ventajas que ofrecen estos en el estudio del componente genetico delas enfermedades psiquiatricas, especificamente en la esquizofrenia. Palabras clave : endofenotipo, genetica, esquizofrenia. Abstract Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETICCOMPONENT IN SQUIZOPHRENIAA review of the concept endophenotype from its historical origins to its actualconception is made. Besides, an approximation to the methodology used fordetecting and validating an endophenotype and its advantages for studyingthe genetic component of psychiatric diseases, specifically schizophrenia,is performed. Key words : Endophenotype, genetics, schizophrenia. 1 M. D. Profesora de la Facultad de Medicina, Universidad de Antioquia. 2 M. D. Psiquiatra, docente de la Facultad de ...
El objetivo de este estudio es caracterizar clinicamente a los pacientes con trastorno afectivo b... more El objetivo de este estudio es caracterizar clinicamente a los pacientes con trastorno afectivo bipolar I (TAB I), teniendo en cuenta la presencia de agregacion familiar. Metodos: este es un estudio observacional de corte transversal. Se extendieron genealogias de pacientes con TAB I, se identificaron familiares posibles afectados y psiquiatras que desconocian los antecedentes familiares de los sujetos realizaron una entrevista diagnostica para estudios geneticos (DIGS) para confirmar el diagnostico y recolectar informacion clinica. Se efectuo el analisis estadistico con el metodo de correspondencias multiples. Resultados: se describen las caracteristicas clinicas del TAB I en este grupo de pacientes. En el analisis de correspondencias se identificaron diversas agrupaciones sintomaticas. Se encontro asociacion entre agregacion familiar y mayor gravedad de los episodios depresivos junto con peor funcionamiento intercritico. Conclusiones: (1) las caracteristicas clinicas y agrupacione...
The pathogenic neurodevelopment hypothesis of schizophrenia postulates that this disorder is the ... more The pathogenic neurodevelopment hypothesis of schizophrenia postulates that this disorder is the product of a primary cerebral alteration resultant of a structural defect that occurs early in life. This defect interacts with events of the central nervous system development and produces some deficiencies that along with environmental precipitants lead to the clinical manifestations of schizophrenia. This hypothesis has had great acceptance and has been the base of multiple studies of molecular genetics in the last years.
Objective: Characterize a sample of families and trios from an isolated Colombian population to m... more Objective: Characterize a sample of families and trios from an isolated Colombian population to map loci involved in vulnerability to Bipolar Mood Disorder type-I (BD-I). Clinical, neuropsychological and molecular endophenotypes were evaluated to shorten the distance between gene identification and phenotypical expressions and then, linkage studies were carried out. Methods: Trios and pedigrees were collected by means of FIGS-DIGS interviews to family members and individuals possibly affected. The power to detect linkage (PDL) was estimated by simulation. As clinical endophenotypes, BD-I cases with family aggregation were compared to BD-I controls without family aggregation. A comparative neuropsychological evaluation was made between euthymic cases and controls. We evaluated the 5-HTTLPR serotonin transporter polymorphism and his association with BD-I. Then we evaluated disequilibrium in trios and families screening chromosomes 12, 18 and 21. Results: 28 BD-I families were identifi...
Our results suggest the existence of a spectrum of cognitive impairment in subjects with schizoph... more Our results suggest the existence of a spectrum of cognitive impairment in subjects with schizophrenia, which is divided into four neurocognitive subtypes according to the degree and type of commitment, which in turn are related to factors of functional impairment, severity and affective symptomatology. Using neuropsychological characteristics can provide valuable information for improving classification, course assessment and treatment of schizophrenia.
La esquizofrenia es un síndrome psicopatológico variable, crónicoy por lo general deteriorante, q... more La esquizofrenia es un síndrome psicopatológico variable, crónicoy por lo general deteriorante, que compromete la percepción, elpensamiento, las emociones, el movimiento y el comportamiento. Su etiología no es clara, pero en algunos pacientes parece deberse a la herencia de variantes génicas que interfieren en el neurodesarrollo. Esta hipótesis está fundamentada principalmente en las alteraciones neuroanatómicas y funcionales obtenidas por imaginología y en los estudios postmortem, lo cual sugiere que un inadecuado neurodesarrollo origina un cerebro con estructura y funcionamiento anormales ue lo hacen más vulnerable a efectos adversos del ambiente interno y externo del individuo y lo predisponen al desarrollo de la enfermedad (1). Bajo este enfoque, uno de los genes involucrados en el fenotipo esquizofrenia es RELN, el cual está ubicado en la región 7q22 y codifica una glicoproteína llamada relina implicada en el posicionamiento y migración de neuronas al hipocampo y la corteza dur...
Biomédica: revista del Instituto Nacional de Salud, 2006
Surname frequency (isonymy) is used as a marker of paternal lineage and is used to characterize h... more Surname frequency (isonymy) is used as a marker of paternal lineage and is used to characterize human population structure. Principles of isonymy were used to determine the genetic structure, migration rates, ancestry relations and origins of populations. This analysis was applied to two historically related local populations which currently are considered to be genetically isolated. The genetic relationships and influence zones of the Aranzazu and Marinilla populations were assessed by means of surname frequency analysis. Data originated from database with the title "System of Identification of Beneficiaries of the Social Programs" database or Sisben. Population parameters such as a priori kinship (phi(ii)), population homogeneity with B and C estimators, and Cavalli-Sforza's genetic distance were calculated for (a) three towns of Marinilla and its influence zone and (b) Aranzazu. The Rionegro population served as an external, comparison population. The Aranzazu and M...
Neuropsychology is the discipline that studies the mind-brain-behavior relationship through the a... more Neuropsychology is the discipline that studies the mind-brain-behavior relationship through the analysis of the brain structure and brain processes supporting superior psychological functions such as consciousness, attention, learning, memory, thought, motivation and affection. Neuropsychological disturbances on bipolar disorder patients have been poorly studied when compared to other psychiatric disorders like schizophrenia. However, increasing interest has developed due to it’s implications on the etiology, treatment, prevention, prognosis, adjustment predictors, social competence and quality of life of such patients. This article intends to review the research published relating bipolar disorder with neuropsychological abnormalities up to date. A review of research on different phases was done, including mania, depression or euthymia; comparative studies with schizophrenic patients and the likely influence of psychotropic medication are also discussed.
A review of the concept endophenotype from its historical origins to its actual conception is mad... more A review of the concept endophenotype from its historical origins to its actual conception is made. Besides, an approximation to the methodology used for detecting and validating an endophenotype and its advantages for studying the genetic component of psychiatric diseases, specifically schizophrenia, is performed.
Los betabloqueadores son farmacos que han demostrado eficacia clinica al disminuir tanto la morbi... more Los betabloqueadores son farmacos que han demostrado eficacia clinica al disminuir tanto la morbilidad como la mortalidad de multiples enfermedades cardiovasculares. Como comun denominador todos los bloqueadores beta adrenergicos antagonizan los receptores β1, produciendo en el corazon una respuesta inotropica y cronotropica negativas. Hasta la fecha se han reportado siete polimorfismos en este receptor β1 (1). En uno de ellos, la sustitucion en el nucleotido 1165, genera un cambio de Arginina por Glicina en la posicion 389 (Arg389Gly) localizado en la cola citoplasmatica del receptor que es una de las regiones de interaccion con la proteina G. Estudios in vitro con las dos variantes polimorficas Arg389Gly del receptor, han demostrado que los receptores con Arg389 tienen una mayor interaccion con la proteina G y producen mas AMPc luego del estimulo con agonistas β(2). En la actualidad se desconocen tanto las implicaciones farmacoterapeuticas de estos polimorfismos, como sus frecuenc...
Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETIC COMPONENT IN SQUIZOPHRENIA A review ... more Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETIC COMPONENT IN SQUIZOPHRENIA A review of the concept endophenotype from its historical origins to its actual conception is made. Besides, an approximation to the methodology used for detecting and validating an endophenotype and its advantages for studying the genetic component of psychiatric diseases, specifically schizophrenia, is performed.
Resumen Se revisa el concepto de endofenotipo, desde su origen historico hasta suconcepcion actua... more Resumen Se revisa el concepto de endofenotipo, desde su origen historico hasta suconcepcion actual. Ademas, se hace una aproximacion a la metodologiautilizada para la deteccion y validacion de un endofenotipo, y se analizanlas ventajas que ofrecen estos en el estudio del componente genetico delas enfermedades psiquiatricas, especificamente en la esquizofrenia. Palabras clave : endofenotipo, genetica, esquizofrenia. Abstract Title: THE USE OF ENDOPHENOTYPES IN THE STUDY OF THE GENETICCOMPONENT IN SQUIZOPHRENIAA review of the concept endophenotype from its historical origins to its actualconception is made. Besides, an approximation to the methodology used fordetecting and validating an endophenotype and its advantages for studyingthe genetic component of psychiatric diseases, specifically schizophrenia,is performed. Key words : Endophenotype, genetics, schizophrenia. 1 M. D. Profesora de la Facultad de Medicina, Universidad de Antioquia. 2 M. D. Psiquiatra, docente de la Facultad de ...
El objetivo de este estudio es caracterizar clinicamente a los pacientes con trastorno afectivo b... more El objetivo de este estudio es caracterizar clinicamente a los pacientes con trastorno afectivo bipolar I (TAB I), teniendo en cuenta la presencia de agregacion familiar. Metodos: este es un estudio observacional de corte transversal. Se extendieron genealogias de pacientes con TAB I, se identificaron familiares posibles afectados y psiquiatras que desconocian los antecedentes familiares de los sujetos realizaron una entrevista diagnostica para estudios geneticos (DIGS) para confirmar el diagnostico y recolectar informacion clinica. Se efectuo el analisis estadistico con el metodo de correspondencias multiples. Resultados: se describen las caracteristicas clinicas del TAB I en este grupo de pacientes. En el analisis de correspondencias se identificaron diversas agrupaciones sintomaticas. Se encontro asociacion entre agregacion familiar y mayor gravedad de los episodios depresivos junto con peor funcionamiento intercritico. Conclusiones: (1) las caracteristicas clinicas y agrupacione...
The pathogenic neurodevelopment hypothesis of schizophrenia postulates that this disorder is the ... more The pathogenic neurodevelopment hypothesis of schizophrenia postulates that this disorder is the product of a primary cerebral alteration resultant of a structural defect that occurs early in life. This defect interacts with events of the central nervous system development and produces some deficiencies that along with environmental precipitants lead to the clinical manifestations of schizophrenia. This hypothesis has had great acceptance and has been the base of multiple studies of molecular genetics in the last years.
Objective: Characterize a sample of families and trios from an isolated Colombian population to m... more Objective: Characterize a sample of families and trios from an isolated Colombian population to map loci involved in vulnerability to Bipolar Mood Disorder type-I (BD-I). Clinical, neuropsychological and molecular endophenotypes were evaluated to shorten the distance between gene identification and phenotypical expressions and then, linkage studies were carried out. Methods: Trios and pedigrees were collected by means of FIGS-DIGS interviews to family members and individuals possibly affected. The power to detect linkage (PDL) was estimated by simulation. As clinical endophenotypes, BD-I cases with family aggregation were compared to BD-I controls without family aggregation. A comparative neuropsychological evaluation was made between euthymic cases and controls. We evaluated the 5-HTTLPR serotonin transporter polymorphism and his association with BD-I. Then we evaluated disequilibrium in trios and families screening chromosomes 12, 18 and 21. Results: 28 BD-I families were identifi...
Our results suggest the existence of a spectrum of cognitive impairment in subjects with schizoph... more Our results suggest the existence of a spectrum of cognitive impairment in subjects with schizophrenia, which is divided into four neurocognitive subtypes according to the degree and type of commitment, which in turn are related to factors of functional impairment, severity and affective symptomatology. Using neuropsychological characteristics can provide valuable information for improving classification, course assessment and treatment of schizophrenia.
La esquizofrenia es un síndrome psicopatológico variable, crónicoy por lo general deteriorante, q... more La esquizofrenia es un síndrome psicopatológico variable, crónicoy por lo general deteriorante, que compromete la percepción, elpensamiento, las emociones, el movimiento y el comportamiento. Su etiología no es clara, pero en algunos pacientes parece deberse a la herencia de variantes génicas que interfieren en el neurodesarrollo. Esta hipótesis está fundamentada principalmente en las alteraciones neuroanatómicas y funcionales obtenidas por imaginología y en los estudios postmortem, lo cual sugiere que un inadecuado neurodesarrollo origina un cerebro con estructura y funcionamiento anormales ue lo hacen más vulnerable a efectos adversos del ambiente interno y externo del individuo y lo predisponen al desarrollo de la enfermedad (1). Bajo este enfoque, uno de los genes involucrados en el fenotipo esquizofrenia es RELN, el cual está ubicado en la región 7q22 y codifica una glicoproteína llamada relina implicada en el posicionamiento y migración de neuronas al hipocampo y la corteza dur...
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