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Background: Most studies on cognitive impairment in bipolar disorder have neglected the role of early stress, despite the high frequency of childhood maltreatment in this clinical group. The aim of this study was to establish a connection between a history of emotional, physical, and sexual abuse in childhood and social cognition (SC) in patients with bipolar disorder type I (BD-I) in euthymia, and to test a possible moderating effect of the single nucleotide polymorphism rs53576 in the oxytocin receptor gene (OXTR). Methods: One hundred and one participants were included in this study. History of child abuse was evaluated using the Childhood Trauma Questionnaire-Short Form. Cognitive functioning was appraised using The Awareness of Social Inference Test (social cognition). The interaction effect between the independent variables OXTR rs53576 (AA/AG and GG) and the absence or presence of any one type of child maltreatment or a combination of types was analyzed using a generalized linear model regression. Results: BD-I patients who had been victims of physical and emotional abuse in childhood and were carriers of the GG genotype at OXTR rs53576 displayed greater SC alterations, specifically in emotion recognition. Discussion: This gene-environment interaction finding suggests a differential susceptibility model of a genetic variants that can be plausibly associated with SC functioning and might help to identify at-risk clinical subgroups within a diagnostic category. Future research aimed at testing the interlevel impact of early stress constitutes an ethical-clinical duty given the high rates of childhood maltreatment reported in BD-I patients.
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Genetic and early environmental factors are interwoven in the etiology of Borderline Personality Disorder (BPD). Epigenetic mechanisms offer the molecular machinery to adapt to environmental conditions. There are gaps in the knowledge about how epigenetic mechanisms are involved in the effects of early affective environment, development of BPD, and psychotherapy response. We reviewed the available evidence of the effects of psychotherapy on changes in DNA methylation and conducted a pilot study in a sample of 11 female adolescents diagnosed with BPD, exploring for changes in peripheral DNA methylation of FKBP5 gene, which encodes for a stress response protein, in relation to psychotherapy, on symptomatology and underlying psychological processes. For this purpose, measures of early trauma, borderline and depressive symptoms, psychotherapy outcome, mentalization, and emotional regulation were studied. A reduction in the average FKBP5 methylation levels was observed over time. Additionally, the decrease in FKBP5 methylation observed occurred only in those individuals who had early trauma and responded to psychotherapy. The results suggest an effect of psychotherapy on epigenetic mechanisms associated with the stress response. The finding that epigenetic changes were only observed in patients with early trauma suggests a specific molecular mechanism of recovery. The results should be taken with caution given the small sample size. Also, further research is needed to adjust for confounding factors and include endocrinological markers and therapeutic process variables.
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OBJECTIVES: To analyze the mitochondrial diversity in three admixed populations and evaluate the historical migration effect of native southern population movement to Santiago (capital of Chile). The intensity of migration was quantified using three mitochondrial lineages restricted to South-Central native groups. METHODS: D-loop sequences were genotyped in 550 unrelated individuals from San Felipe-Los Andes (n = 108), Santiago (n = 217), and Concepción (n = 225). Sequence processing, alignment, and haplogroup inference were carried out, and different genetic structure analyses were performed for haplogroup frequencies and D-loop sequences. RESULTS: The Native lineages B2i2, C1b13, and D1g were the most frequent haplogroups, especially in Santiago (71.8%). Despite the distance, this city showed a high-genetic affinity with southern populations, including Concepción (~500 km distant) and native groups, rather than with those from San Felipe-Los Andes (<100 km distant). In fact, there was a negative correlation between geographical and genetic distance among these cities (r corr = -0.5593, p value = 0.8387). Network analysis revealed shared haplotypes between Santiago, Concepción, and other southern populations. Finally, we found lineages from Concepción acting as ancestral nodes in the northern clade. CONCLUSIONS: Considering the geographic distances from these cities, the results were not consistent with a model of genetic isolation by geographic distance, revealing the effects of a historical migration process from the south to the capital. We also show evidence of possible north-to-south migration during admixture onset in Concepción and in addition, we were able to identify previously unreported mitochondrial diversity in urban populations that became lost in Native groups post-European contact.
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Variación Genética , Genética de Población , Indígenas Sudamericanos , Mitocondrias , Humanos , Chile , Mitocondrias/genética , Indígenas Sudamericanos/genéticaRESUMEN
Introducción. Una vez declarada la pandemia por COVID-19, los servicios de rehabilitación empezaron a prepararse para la atención, mediante diferentes abordajes, de los pacientes que se recuperaran de esta enfermedad. Objetivo. Correlacionar los resultados obtenidos en el Cuestionario Respiratorio de Saint George (CRSG), la Escala de Severidad de la Fatiga (FSS) y la Escala de Actividades de la Vida Diaria London Chest (LCADL) aplicados en pacientes recuperados de COVID-19 para medir su calidad de vida y la fatiga. Métodos. Estudio descriptivo retrospectivo realizado en 60 pacientes recuperados de COVID-19, moderado o grave, que ingresaron al programa de rehabilitación pulmonar de un hospital de tercer nivel de Bogotá, Colombia, entre el primero de octubre de 2020 y el 30 de junio de 2021. Se analizaron variables demográficas y para caracterizar la calidad de vida y la fatiga de los participantes se utilizó el cuestionario CRSG, la escala FSS y la escala LCADL, cuyos resultados se compararon mediante correlación de Spearman. Para el análisis estadístico se utilizó el programa de SPSS versión 28. Resultados. La fatiga está correlacionada con la calidad de vida, y al ser identificada se puede intervenir mediante los ejercicios terapéuticos de los programas de rehabilitación pulmonar, lo cual optimiza los resultados esperados. Conclusiones. Existe una adecuada correlación entre las escalas CRSG y LCADL; esto es importante porque aplicar escalas de calidad de vida en pacientes con SARS-CoV-2 permite conocer las áreas que pueden ser intervenidas mediante programas de rehabilitación pulmonar para lograr una intervención adecuada
Introduction. Once the COVID-19 pandemic was declared, rehabilitation services began to prepare for the care, through different approaches, of patients recovering from this disease. Objective. To correlate the results obtained in the Saint George's Respiratory Questionnaire (CRSG), the Fatigue Severity Scale (FSS) and the London Chest Activities of Daily Living Scale (LCADL) applied in patients recovered from COVID-19 to measure their quality of life and fatigue. Methods. Retrospective descriptive study conducted in 60 patients recovered from COVID-19, moderate or severe, who were admitted to the pulmonary rehabilitation program of a third level hospital in Bogota, Colombia, between October 1, 2020 and June 30, 2021. Demographic variables were analyzed and the CRSG questionnaire, the FSS scale and the LCADL scale were used to characterize the quality of life and fatigue of the participants, whose results were compared by Spearman correlation. SPSS version 28 was used for statistical analysis. Results. Fatigue is correlated with quality of life, and when identified, it can be intervened by means of therapeutic exercises in pulmonary rehabilitation programs, which optimizes the expected results. Conclusions. There is an adequate correlation between the CRSG and LCADL scales; this is important because applying quality of life scales in patients with SARS-CoV-2 allows us to know the areas that can be intervened through pulmonary rehabilitation programs to achieve an adequate intervention.
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Humanos , Masculino , Femenino , Niño , Adolescente , Adulto , Persona de Mediana Edad , AncianoRESUMEN
BACKGROUND: Amyloid-ß peptide (Aß) deposition in Alzheimer's disease (AD) is due to an imbalance in its production/clearance rate. Aß is transported across the blood-brain barrier by LRP1 and P-gp as efflux transporters and RAGE as influx transporter. Vitamin D deficit and polymorphisms of the vitamin D receptor (VDR) gene are associated with high prevalence of mild cognitive impairment (MCI) and AD. Further, vitamin D promotes the expression of LRP1 and P-gp in AD-animal model brains. OBJECTIVE: To associate VDR polymorphisms Apa I (rs7975232), Taq I (rs731236), and Fok I (rs2228570) with the risk of developing MCI in a Chilean population, and to evaluate the relationship of these polymorphisms to the expression of VDR and Aß-transporters in peripheral blood mononuclear cells (PBMCs). METHODS: VDR polymorphisms Apa I, Taq I, and Fok I were determined in 128 healthy controls (HC) and 66 MCI patients. mRNA levels of VDR and Aß-transporters were evaluated in subgroups by qPCR. RESULTS: Alleles A of Apa I and C of Taq I were associated with a lower risk of MCI. HC with the Apa I AA genotype had higher mRNA levels of P-gp and LRP1, while the expression of VDR and RAGE were higher in MCI patients and HC. For Fok I, the TC genotype was associated with lower expression levels of Aß-transporters in both groups. CONCLUSION: We propose that the response to vitamin D treatment will depend on VDR polymorphisms, being more efficient in carriers of protective alleles of Apa I polymorphism.
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Péptidos beta-Amiloides/biosíntesis , Péptidos beta-Amiloides/genética , Disfunción Cognitiva/genética , Disfunción Cognitiva/metabolismo , Polimorfismo de Nucleótido Simple/genética , Receptores de Calcitriol/genética , Anciano , Chile/epidemiología , Disfunción Cognitiva/epidemiología , Estudios de Cohortes , Femenino , Expresión Génica , Humanos , Masculino , Proteínas de Transporte de Membrana/genética , Proteínas de Transporte de Membrana/metabolismo , Factores de Riesgo , Polimerasa Taq/genética , Polimerasa Taq/metabolismo , Factores de Transcripción/genética , Factores de Transcripción/metabolismoRESUMEN
BACKGROUND: The relationship between borderline personality disorder (BPD) and type-II bipolar disorder (BDII) is not clearly understood. Nevertheless, in clinical practice and research, most efforts focus on establishing a categorical distinction between the two. We propose using personality traits as a more informative strategy to describe them. METHODS: Five-Factor Model personality traits were measured in 73 individuals with either BPD or BDII. Latent class cluster analysis was applied to the sample. RESULTS: A three-cluster model resulted the best fit to the data, where all clusters had high neuroticism and low extraversion scores but differed widely on the other traits. The clusters' boundaries did not match the categorical diagnosis. CONCLUSIONS: Our sample showed significant heterogeneity on personality traits, which can have a relevant effect on the outcome of each disorder and that was not captured by the categorical diagnosis. Thus, we advocate for a multivariate approach as a better way to understand the relationship between BPD and BDII.
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The possibility of voyaging contact between prehistoric Polynesian and Native American populations has long intrigued researchers. Proponents have pointed to the existence of New World crops, such as the sweet potato and bottle gourd, in the Polynesian archaeological record, but nowhere else outside the pre-Columbian Americas1-6, while critics have argued that these botanical dispersals need not have been human mediated7. The Norwegian explorer Thor Heyerdahl controversially suggested that prehistoric South American populations had an important role in the settlement of east Polynesia and particularly of Easter Island (Rapa Nui)2. Several limited molecular genetic studies have reached opposing conclusions, and the possibility continues to be as hotly contested today as it was when first suggested8-12. Here we analyse genome-wide variation in individuals from islands across Polynesia for signs of Native American admixture, analysing 807 individuals from 17 island populations and 15 Pacific coast Native American groups. We find conclusive evidence for prehistoric contact of Polynesian individuals with Native American individuals (around AD 1200) contemporaneous with the settlement of remote Oceania13-15. Our analyses suggest strongly that a single contact event occurred in eastern Polynesia, before the settlement of Rapa Nui, between Polynesian individuals and a Native American group most closely related to the indigenous inhabitants of present-day Colombia.
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Flujo Génico/genética , Genoma Humano/genética , Migración Humana/historia , Indígenas Centroamericanos/genética , Indígenas Sudamericanos/genética , Islas , Nativos de Hawái y Otras Islas del Pacífico/genética , América Central/etnología , Colombia/etnología , Europa (Continente)/etnología , Genética de Población , Historia Medieval , Humanos , Polimorfismo de Nucleótido Simple/genética , Polinesia , América del Sur/etnología , Factores de TiempoRESUMEN
Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant in COL18A1, c.4224_4225delinsC, p.Pro1411Leufs*35.
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Colágeno Tipo XVIII/genética , Encefalocele/genética , Predisposición Genética a la Enfermedad , Degeneración Retiniana/genética , Desprendimiento de Retina/congénito , Niño , Encefalocele/complicaciones , Encefalocele/patología , Femenino , Humanos , Mutación , Degeneración Retiniana/complicaciones , Degeneración Retiniana/patología , Desprendimiento de Retina/complicaciones , Desprendimiento de Retina/genética , Desprendimiento de Retina/patología , Secuenciación del ExomaRESUMEN
BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
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Etnicidad/genética , Genética de Población/organización & administración , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Chile , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genotipo , Técnicas de Genotipaje , Humanos , Masculino , Filogeografía , SalivaRESUMEN
OBJECTIVE: Genetic factors underlying different personality traits are not entirely understood, particularly how genes interact to modulate their effect. We studied 76 patients diagnosed with borderline personality disorder (BPD), characterized by extreme levels of personality traits, especially neuroticism (N), in which we genotyped two polymorphisms, the 5HTTLPR of the Serotonin transporter (SERT) gene, and the Val66Met of the Brain-derived neurotrophic factor (BDNF) gene. RESULTS: We found an association with SERT, where S-allele carriers had significantly higher levels of N than L-homozygous. Furthermore, we found that the protective effect of L-homozygosity is only evident on A-allele carriers of the BDNF Val66Met polymorphism. Genetic constitution in SERT and BDNF seems to be important in neuroticism, the most relevant personality trait on BPD.
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Trastorno de Personalidad Limítrofe/genética , Trastorno de Personalidad Limítrofe/fisiopatología , Factor Neurotrófico Derivado del Encéfalo/genética , Neuroticismo , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Adulto , Femenino , Humanos , Masculino , Polimorfismo de Nucleótido SimpleRESUMEN
Recientemente se han postulado las ondas de choque extracorpóreas como tratamiento para el síndrome de túnel del carpo, el cual ha demostrado ser eficaz, no invasivo y con pocos efectos adversos. Mujer de 49 años con síndrome de túnel del carpo bilateral moderado de tres años de evolución, sin mejoría con el tratamiento convencional y con criterios para manejo quirúrgico. Sin embargo, ante la negativa de la paciente se propone manejo conservador con una sesión de ondas de choque extracorpóreas radiales con 5.000 descargas, a 4 Bar de intensidad y frecuencia de 15 Hz. Seis meses después de la intervención se documenta recuperación en los parámetros neurofisiológicos a nivel bilateral, pero clínica y funcionalmente solo hubo mejoría completa en la mano izquierda, registrando empeoramiento en la mano derecha; por tal razón se realizó liberación quirúrgica con buenos resultados. En la actualidad la paciente se encuentra asintomática en ambas manos. El tratamiento con ondas de choque radiales se constituye en una alternativa efectiva para el manejo conservador del síndrome de túnel del carpo leve a moderado. Los pacientes presentan buena tolerancia, garantizando la adherencia a la intervención.
Recently, extracorporeal shock waves have been postulated as a treatment for carpal tunnel syndrome, which has been shown to be effective, noninvasive and with few adverse effects. A 49-year-old woman with moderate bilateral carpal tunnel syndrome of three years of evolution, with no improvement with conventional treatment and with criteria for surgical management. However, due to the patient's refusal, conservative management was proposed with a session of extracorporeal radial shock waves with 5,000 shocks, at 4 Bar intensity and frequency of 15 Hz. Six months after the intervention, recovery in the neurophysiological parameters at bilateral level was documented, but clinically and functionally there was only complete improvement in the left hand, registering worsening in the right hand; for this reason, surgical release was performed with good results. At present the patient is asymptomatic in both hands. Radial shock wave therapy is an effective alternative for the conservative management of mild to moderate carpal tunnel syndrome. Patients present good tolerance, guaranteeing adherence to the intervention.
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Humanos , Femenino , Persona de Mediana EdadRESUMEN
La enfermedad Covid-19 se declaró pandemia en el mes de marzo de 2020. Sus manifestaciones clínicas son variadas: desde pacientes asintomáticos hasta enfermedad respiratoria severa y falla multiorgánica, lo cual puede conducir a la muerte. Los pacientes con enfermedad severa o crítica que requieren hospitalización en la unidad de cuidados intensivos (UCI), pueden presentar complicaciones directas o indirectas a las lesiones causadas por la infección, como el síndrome de des acondicionamiento físico, el síndrome post-UCI, entre otros. Se describe el abordaje de la evaluación y la rehabilitación en el paciente adulto hospitalizado con infección por Covid-19, con énfasis en la rehabilitación respiratoria. El presente documento se fundamenta en la literatura disponible actualmente y presenta recomendaciones dirigidas al escenario nacional.
Covid-19 disease was declared a pandemic in March 2020. Its clinical manifestations are varied: from asymptomatic patients to severe respiratory disease and multi-organ failure, which can lead to death. Patients with severe or critical illness who require hospitalization in the intensive care unit (ICU) may present direct or indirect complications to the lesions caused by the infection, such as the physical conditioning syndrome, post-ICU syndrome, among others. The approach to evaluation and rehabilitation in the hospitalized adult patient with Covid-19 infection is described, with emphasis on respiratory rehabilitation. This document is based on currently available literature and presents recommendations for the national setting.
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HumanosRESUMEN
BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.
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Humanos , Masculino , Femenino , Etnicidad/genética , Indígenas Sudamericanos/genética , Polimorfismo de Nucleótido Simple/genética , Grupos de Población/genética , Genética de Población/organización & administración , Saliva , Marcadores Genéticos/genética , Chile , Filogeografía , Técnicas de Genotipaje , Frecuencia de los Genes/genética , GenotipoRESUMEN
BACKGROUND: Quality of life and psychological well-being are readily hampered by depression. The changes that students face during college life impact their psychological health and well-being, including the emergence of mental health problems like depression Aim: To determine the relationship between depressive symptoms, sociodemographic parameters and psychological well-being in undergraduate university students. MATERIAL AND METHODS: Five hundred eighty university students of both sexes, from the Metropolitan and IX Regions of Chile answered the Beck Depression Inventory (BDI-IA) and the Ryff's psychological well-being scale. RESULTS: Twenty eight percent of respondents had clinically significant depressive symptoms, and these were more frequent in women. There was an inverse and statistically significant relationship between psychological well-being and depressive symptoms. This fact was especially marked in dimensions of autonomy, positive relationships with others and purpose in life. CONCLUSIONS: There is a high frequency of depressive symptoms among these students. We discuss whether psychological well-being and depressive symptomatology represent two extremes within a continuum or they are two independent dimensions that can account for differential causal mechanisms linked to mental health and illness.
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Depresión/epidemiología , Calidad de Vida/psicología , Estudiantes/psicología , Adolescente , Adulto , Chile/epidemiología , Estudios Transversales , Femenino , Humanos , Masculino , Escalas de Valoración Psiquiátrica , Distribución por Sexo , Factores Sexuales , Factores Socioeconómicos , Universidades/estadística & datos numéricos , Adulto JovenRESUMEN
Background: Quality of life and psychological well-being are readily hampered by depression. The changes that students face during college life impact their psychological health and well-being, including the emergence of mental health problems like depression Aim: To determine the relationship between depressive symptoms, sociodemographic parameters and psychological well-being in undergraduate university students. Material and Methods: Five hundred eighty university students of both sexes, from the Metropolitan and IX Regions of Chile answered the Beck Depression Inventory (BDI-IA) and the Ryff's psychological well-being scale. Results: Twenty eight percent of respondents had clinically significant depressive symptoms, and these were more frequent in women. There was an inverse and statistically significant relationship between psychological well-being and depressive symptoms. This fact was especially marked in dimensions of autonomy, positive relationships with others and purpose in life. Conclusions: There is a high frequency of depressive symptoms among these students. We discuss whether psychological well-being and depressive symptomatology represent two extremes within a continuum or they are two independent dimensions that can account for differential causal mechanisms linked to mental health and illness.
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Humanos , Masculino , Femenino , Adolescente , Adulto , Adulto Joven , Calidad de Vida/psicología , Estudiantes/psicología , Depresión/epidemiología , Escalas de Valoración Psiquiátrica , Factores Socioeconómicos , Universidades/estadística & datos numéricos , Chile/epidemiología , Factores Sexuales , Estudios Transversales , Distribución por SexoRESUMEN
BACKGROUND: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families. MATERIALS AND METHODS: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. To evaluate a putative founder mutation 7 SNPs were analyzed in the three families, an Argentinian patient (carrier of the same mutation previously reported) and 87 Chilean controls. RESULTS: The ophthalmic symptoms in the five patients were bilateral and symmetric, starting before one year of age, and visual acuity varied from 0.1 to 0.3. In all cases, hearing loss began over 8 years old. The sequence of the 19 exons of SLC4A11 gene of all the affected patients exhibited homozygous eight nucleotide sequence duplication (c.2233_2240dup TATGACAC, p.(Ile748Metfs*5)) at the end of exon 16. All the affected patients of the three families were homozygous for a haplotype composed of five SNPs and covering 4,1 Mb. The same haplotype was present in one allele of the heterozygous Argentinean patient and has a frequency of 2.76% in Chilean population. CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation.
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Proteínas de Transporte de Anión/genética , Antiportadores/genética , Distrofias Hereditarias de la Córnea/diagnóstico , Distrofias Hereditarias de la Córnea/genética , Efecto Fundador , Duplicación de Gen/genética , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Polimorfismo de Nucleótido Simple , Adolescente , Adulto , Anciano , Audiometría , Emparejamiento Base , Niño , Consanguinidad , Análisis Mutacional de ADN , Exones/genética , Femenino , Haplotipos , Heterocigoto , Homocigoto , Humanos , Masculino , Linaje , Agudeza Visual/fisiología , Adulto JovenRESUMEN
Recent research in psychiatric genetics has led to a move away from simple diathesis-stress models to more complex models of psychopathology incorporating a focus on gene-environment interactions and epigenetics. Our increased understanding of the way biology encodes the impact of life events on organisms has also generated more sophisticated theoretical models concerning the molecular processes at the interface between "nature" and "nurture." There is also increasing consensus that psychotherapy entails a specific type of learning in the context of an emotional relationship (i.e., the therapeutic relationship) that may also lead to epigenetic modifications across different therapeutic treatment modalities. This paper provides a systematic review of this emerging body of research. It is concluded that, although the evidence is still limited at this stage, extant research does indeed suggest that psychotherapy may be associated with epigenetic changes. Furthermore, it is argued that epigenetic studies may play a key role in the identification of biomarkers implicated in vulnerability for psychopathology, and thus may improve diagnosis and open up future research opportunities regarding the mechanism of action of psychotropic drugs as well as psychotherapy. We review evidence suggesting there may be important individual differences in susceptibility to environmental input, including psychotherapy. In addition, given that there is increasing evidence for the transgenerational transmission of epigenetic modifications in animals and humans exposed to trauma and adversity, epigenetic changes produced by psychotherapy may also potentially be passed on to the next generation, which opens up new perspective for prevention science. We conclude this paper stressing the limitations of current research and by proposing a set of recommendations for future research in this area.
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Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian forms of psychosis. Recent findings, however, show that the subset of patients that present a mutation with major effect is larger than expected. We discuss some of the molecular findings of these studies. SZ is clinically and genetically heterogeneous. To identify the genetic variation underlying the disorder, research should be focused on features that are more likely a product of genetic heterogeneity. Based on the phenotypical correlations with rare variants, cognition emerges as a relevant domain to study. Cognitive disturbances could be useful in selecting cases that have a higher probability of carrying deleterious mutations, as well as on the correct ascertainment of sporadic cases for the identification of de novo variants.
Asunto(s)
Marcadores Genéticos , Predisposición Genética a la Enfermedad , Variación Genética , Esquizofrenia/genética , Genotipo , Humanos , FenotipoRESUMEN
Introducción: La punción aspiración con aguja fina ha desempeñado un papel esencial en la evaluación del paciente con nódulo tiroideo, siendo un método rápido, mínimamente invasivo y de bajo costo. El objetivo de este estudio fue evaluar la precisión diagnóstica de la punción aspiración con aguja fina en lesiones tiroideas, contrastando sus resultados con los hallazgos histopatológicos obtenidos en la pieza quirúrgica. Materiales y métodos: Se realizó un análisis retrospectivo utilizando los sistemas de registro informático del Instituto Caldense de Patología en Manizales - Colombia. Se analizaron los casos estudiados por punción aspiración con aguja fina de tiroides entre enero del 2012 a febrero del 2014. El estudio incluyó 1220 casos, de los cuales a 111 se les realizó tiroidectomía, los resultados se correlacionaron y se determinó sensibilidad, especificidad, valor predictivo positivo, valor predictivo negativo y precisión diagnóstica. Resultados: De los 111 casos, 5 se excluyeron por ser muestras insatisfactorias o atipias de significado indeterminado y quedaron 106 casos adecuados para la evaluación. La correlación citológica e histopatológica mostró una sensibilidad de 86,1%, especificidad de 88,2%, valor predictivo positivo de 93,9%, valor predictivo negativo de 75% y una precisión diagnóstica de 86,7%. Discusión: La punción aspiración con aguja fina de tiroides es una prueba sensible, específica y con una buena precisión diagnóstica. Los datos obtenidos son comparables con los hallados en estudios previos similares.
Introduction: The fine needle aspiration has played an essential role evaluating the patient with a thyroid nodule, is a rapid method, minimally invasive, with high diagnostic accuracy and low cost. The objective of this study evaluated the diagnostic accuracy of fine needle aspiration in thyroid lesions contrasting their results with histopathological findings obtained in the surgical specimen. Materials and methods: Como A retrospective analysis was performed using the informatics registry of Instituto Caldense de Patología in Manizales-Colombia. Were analyzed the cases of thyroid aspiration with fine needle studied from January 2012 to February 2014. The study included 1220 cases, of which 111 had a thyroidectomy, the results were correlated and sensibility, specificity, positive predictive value, negative predictive value and diagnostic accuracy were determined. Results: Of the 111 cases, 5 were excluded because the sample was unsatisfactory or because showed atypia of undetermined meaning, remaining 106 cases were evaluated. The cytological and histopathological correlation showed a sensibility of 86.1%, specificity of 88.2%, positive predictive value of 93.9%, negative predictive value of 75%, and a diagnostic accuracy of 86.7%. Discussion: Thyroid fine needle aspiration is a sensitive, specific test with good diagnostic accuracy. Data obtained are comparable to those found in similar previous studies. When an inadequate or unsatisfactory sample is found, the biopsy must be repeated.
RESUMEN
Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. OBJECTIVE: To characterize clinically and genetically patients diagnosed with TSC. PATIENTS AND METHOD: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical course were analyzed. RESULTS: In 61.9% of the patients the symptoms began before 6 months of age. The initial most frequent manifestations of TSC were new onset of seizures (73.8%) and the detection of cardiac rhabdomyomas (16.6%). During the evolution of the disease all patients had neurological involvement; 92.9% had epilepsy. All patients presented hypomelanotic spots, 47.6% facial angiofibromas, 23.8% Shagreen patch, 47.6 heart rhabdomyomas and 35.7% retinal hamartomas. In the genetic study of 21 patients two heterozygous pathogenic mutations in TSC1 and one in TSC2 genes were identified. The latter had a more severe clinical phenotype. CONCLUSIONS: Neurological and dermatological manifestations were the most frequent ones in patients with TSC. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified. The patient with TSC2 mutation manifested a more severe clinical phenotype.