Genetic evidence for the onset and development of myopia / 中华实验眼科杂志

Myopia is a common refractive eye disease, which is an ametropia in which the spherical equivalent of the eye is less than or equal to -0.50 D, or the axial length of the eye is more than 24 mm.As myopia progresses, the likelihood of ocular complications gradually increases, including retinal detachment, retinal neovascularization, macular degeneration, and other pathological changes.In recent years, the annual incidence of myopia has increased significantly and has become the second leading cause of blindness worldwide.Epidemiologic studies have shown that the distribution of myopia presents obvious ethnic differences and familial clustering characteristics, indicating that genetic factors play an important role in the onset and development of myopia.In addition, researchers have identified many pathogenic variants and candidate genes for myopia in patient samples, revealing the genetic and molecular mechanisms of myopia development.The genetic factor not only can serve as the independent factor that affects myopia development but also can interact with the environmental factor and together control the progression of myopia.This article reviewed the epidemiological research evidence on the heritability of myopia, the genetic factors of myopia development, and the interaction between genetic and environmental factors to provide new ideas for the prevention, control and treatment of myopia.

Associated factors with the development of congenital anomalies in the neonatal population attended in a highly complex hospital in Colombia: case-control studyFactores asociados al desarrollo de anomalías congénitas en la población neonatal atendida en un hospital de alta complejidad en Colombia: estudio de casos y controles / Associated factors with the development of congenital anomalies in the neonatal population attended in a highly complex hospital in Colombia: case-control study

INTRODUCCIÓN: Los defectos congénitos son un grupo de alteraciones con gran heterogeneidad clínica y etiológica. Su prevalencia en los países en vías de desarrollo alcanza aproximadamente un 7%. En Colombia, un 17% de los niños menores de 1 año mueren a causa de anomalías congénitas. OBJETIVO: Determinar los factores de riesgo asociados a anomalías congénitas en neonatos del Departamento del Cauca atendidos en un hospital de alta complejidad. MÉTODO: Estudio de casos y controles en el Hospital Universitario San José, de Popayán, Colombia. Se incluyeron 174 recién nacidos, con una distribución 1:1 para 87 casos y 87 controles, entre julio de 2018 y julio de 2019. Las variables de interés fueron registradas en un instrumento semiestructurado diseñado por los investigadores. Los datos obtenidos fueron analizados usando métodos de estadística descriptiva, prueba exacta de Fisher y modelos de regresión logística binomial (odds ratio [OR] con intervalo de confianza del 95% [IC95%]). RESULTADOS: Las anomalías congénitas más frecuentes fueron del sistema cardiovascular (40,23%), renales (24,14%) y del sistema nervioso central (13,79%). Las variables que se asociaron a anomalías congénitas fueron la educación de la madre (OR: 2,40; IC95%: 1,23-4,68), la educación del padre (OR: 2,93; IC95%: 1,44-5,93), el antecedente de cesárea (OR: 3,3; IC95%: 1,76-6,42), la hemorragia en el primer trimestre (OR: 6,15; IC95%: 1,32-28,63) y el antecedente de malformación en un embarazo previo (OR: 4,05; IC95%: 1,08-15,07). CONCLUSIONES: De acuerdo con los resultados del presente estudio, para tratar de reducir la incidencia de las anomalías congénitas se deben intervenir los factores de riesgo modificables, como la educación de los padres, tratar oportunamente las patologías maternas asociadas al sangrado del primer trimestre y realizar consejería genética a los padres con antecedente de anomalías congénitas en embarazos previos. Lo anterior podría lograrse al mejorar la calidad y la adherencia al control prenatal.

INTRODUCTION: Congenital defects are a group of alterations with great clinical and etiological heterogeneity. The prevalence in developing countries is approximately 7%. In Colombia, 17% of children under 1 year of age die from congenital anomalies. OBJECTIVE: To determine the risk factors associated with congenital anomalies in neonates from the Department of Cauca treated in a highly complex hospital. METHOD: Case-control study at the San José de Popayan University Hospital, Colombia. 174 newborns entered the study, with a 1: 1 distribution for 87 cases and 87 controls, between July 2018 and July 2019. The variables of interest were recorded in a semi-structured instrument designed by the researchers. The data obtained were analyzed using descriptive statistical methods, Fishers exact test and binomial logistic regression models (OR with 95% CI). RESULTS: The most frequent congenital anomalies were those of the cardiovascular system (40.23%), renal (24.14%) and central nervous system (13.79%). The variables associated with congenital anomalies were mothers education (OR 2.40; 95% CI: 1.23-4.68), fathers education (OR 2.93 95% CI: 1.44-5.93), history of cesarean section (OR 3.3 CI 95%: 1.76-6.42), first trimester bleeding (OR 6.15 95% CI: 1.32-28.63); history of malformation (OR: 4,05; 95% CI: 1.08-15.07). CONCLUSIONS: Based on the results of the present study and to try to reduce the incidence of congenital anomalies, modifiable risk factors should be intervened, such as parental education, timely treatment of maternal pathologies associated with 1-trimester bleeding and perform genetic counseling to parents with a history of congenital anomalies in previous pregnancies. This could be achieved by improving quality and adherence to prenatal care.

Factores asociados al desarrollo de anomalías congénitas en la población neonatal atendida en un hospital de alta complejidad en Colombia: estudio de casos y controles / Associated factors with the development of congenital anomalies in the neonatal population attended in a highly complex hospital in Colombia: case-control study

INTRODUCCIÓN: Los defectos congénitos son un grupo de alteraciones con gran heterogeneidad clínica y etiológica. Su prevalencia en los países en vías de desarrollo alcanza aproximadamente un 7%. En Colombia, un 17% de los niños menores de 1 año mueren a causa de anomalías congénitas. OBJETIVO: Determinar los factores de riesgo asociados a anomalías congénitas en neonatos del Departamento del Cauca atendidos en un hospital de alta complejidad. MÉTODO: Estudio de casos y controles en el Hospital Universitario San José, de Popayán, Colombia. Se incluyeron 174 recién nacidos, con una distribución 1:1 para 87 casos y 87 controles, entre julio de 2018 y julio de 2019. Las variables de interés fueron registradas en un instrumento semiestructurado diseñado por los investigadores. Los datos obtenidos fueron analizados usando métodos de estadística descriptiva, prueba exacta de Fisher y modelos de regresión logística binomial (odds ratio [OR] con intervalo de confianza del 95% [IC95%]). RESULTADOS: Las anomalías congénitas más frecuentes fueron del sistema cardiovascular (40,23%), renales (24,14%) y del sistema nervioso central (13,79%). Las variables que se asociaron a anomalías congénitas fueron la educación de la madre (OR: 2,40; IC95%: 1,23-4,68), la educación del padre (OR: 2,93; IC95%: 1,44-5,93), el antecedente de cesárea (OR: 3,3; IC95%: 1,76-6,42), la hemorragia en el primer trimestre (OR: 6,15; IC95%: 1,32-28,63) y el antecedente de malformación en un embarazo previo (OR: 4,05; IC95%: 1,08-15,07). CONCLUSIONES: De acuerdo con los resultados del presente estudio, para tratar de reducir la incidencia de las anomalías congénitas se deben intervenir los factores de riesgo modificables, como la educación de los padres, tratar oportunamente las patologías maternas asociadas al sangrado del primer trimestre y realizar consejería genética a los padres con antecedente de anomalías congénitas en embarazos previos. Lo anterior podría lograrse al mejorar la calidad y la adherencia al control prenatal.

INTRODUCTION: Congenital defects are a group of alterations with great clinical and etiological heterogeneity. The prevalence in developing countries is approximately 7%. In Colombia, 17% of children under 1 year of age die from congenital anomalies. OBJECTIVE: To determine the risk factors associated with congenital anomalies in neonates from the Department of Cauca treated in a highly complex hospital. METHOD: Case-control study at the San José de Popayan University Hospital, Colombia. 174 newborns entered the study, with a 1: 1 distribution for 87 cases and 87 controls, between July 2018 and July 2019. The variables of interest were recorded in a semi-structured instrument designed by the researchers. The data obtained were analyzed using descriptive statistical methods, Fishers exact test and binomial logistic regression models (OR with 95% CI). RESULTS: The most frequent congenital anomalies were those of the cardiovascular system (40.23%), renal (24.14%) and central nervous system (13.79%). The variables associated with congenital anomalies were mothers education (OR 2.40; 95% CI: 1.23-4.68), fathers education (OR 2.93 95% CI: 1.44-5.93), history of cesarean section (OR 3.3 CI 95%: 1.76-6.42), first trimester bleeding (OR 6.15 95% CI: 1.32-28.63); history of malformation (OR: 4,05; 95% CI: 1.08-15.07). CONCLUSIONS: Based on the results of the present study and to try to reduce the incidence of congenital anomalies, modifiable risk factors should be intervened, such as parental education, timely treatment of maternal pathologies associated with 1-trimester bleeding and perform genetic counseling to parents with a history of congenital anomalies in previous pregnancies. This could be achieved by improving quality and adherence to prenatal care.

Effect of Non-Genetic Factors on Test-Day Milk Yields and First Lactation Milk Yields in Holstein Friesian × Sahiwal Cattle

The present study was carried out using first lactation monthly test-day milk yield records of 466 crossbred (HF × Sahiwal) cattle calved from 2000 to 2018 sired by 89 bulls maintained at Directorate of Livestock Farms, GADVASU, Ludhiana. Mixed model analysis was carried out by least-squares maximum likelihood programme to study the effects of non-genetic factors on first full lactation milk yield (FFLMY), first lactation 305-day milk yield (FL305MY) and monthly test-day (TD) milk yield records of crossbred cattle. The least squares means of different monthly TD milk yields (1st to 11th) were 12.05 ± 0.42, 15.65 ± 0.42, 15.38 ± 0.44, 14.44 ± 0.43, 13.79 ± 0.41, 12.88 ± 0.40, 12.27 ± 0.42, 11.83 ± 0.37, 10.85 ± 0.42, 10.64 ± 0.45 and 10.28 ± 0.50 kg, respectively. For FFLMY and FL305MY the means were 4979.60±184.45 and 3818.17±103.26 kg. The effects of different AFC groups were non-significant on TDs and FL305MYs, whereas it was significant (p≤0.01) for FFLMY. The season was significant (p≤0.01) for all the monthly TDs whereas it was non-significant for FFLMY and FL305MY. The sire was significant (p≤0.01) for most of the TDs and FL305MYs except the later TDs (9th, 10th and 11th TD) and FFLMYs. The present investigation revealed the importance of non-genetic factors in performance evaluation of crossbred cattle based on monthly test-day milk yield, FL305MY and FFLMY records

Drosophila ananassae: a species characterized by spontaneous male recombination in appreciable frequency

Mutation and recombination are primarily responsible for generating the genetic variability in natural populations of microorganisms, plant and animal species including humans. Upon such genetic variations, elemental forces of evolution such as natural selection, random genetic drift and migration operate to bring about micro-evolutionary changes. Recombination or crossing-over produces new combinations of genes due to interchange of corresponding segments between nonsister chromatids of homologous chromosomes, thus, it is an important evolutionary factor. Since the time of T. H. Morgan, Drosophila has been subjected to extensive investigations on crossing over while employing a number of markers, which were used for gene mapping. Interestingly, recombination occurs in females of D. melanogaster but not in males. Later on, male crossing over was investigated in various species and its occurrence was reported in D. melanogaster, D. ananassae, D. simulans, D. willistoni, D. littoralis and D. bipectinata. Recombination occurs at very low rate in all these species except for D. ananassae, which shows spontaneous male crossing over in appreciable frequency, which is meiotic in origin. This unusual phenomenon in D. ananassae is influenced by various genetic factors as well as it shows strain variation as far as frequency of male recombination is concerned. Further, the presence of chiasmata during meiosis in males at a frequency capable of accounting for the observed recombination frequency extends evidence for meiotic origin of recombination in males of D. ananassae.

Congenital hepatic fibrosis associated with ascites in a nellore calf / Fibrose hepática congênita associada à ascite em um bezerro nelore

ABSTRACT: Congenital hepatic fibrosis (CHF) is an autosomal recessive malformation characterized by a variable degree of fibrosis and bile duct proliferation, mainly described in people and rarely reported in bovine European breeds. In addition to liver fibrosis, this syndrome has been associated with ascites and subcutaneous edema in calves. This paper described the pathological findings of the first report of CHF in a Nelore bovine fetus. A stillborn calf was removed by cesarean section because of dystocia. At necropsy, characteristic changes of CHF were observed, such as a large increase in abdominal volume associated with hepatic fibrosis and marked subcutaneous edema. Histological examination of liver revealed periportal and port-portal islands of fibrosis separating the parenchyma into nodules of variable sizes and containing numerous abnormally shaped bile ducts. The CHF should be considered in the differential diagnosis in young calves that present with ascites.

RESUMO: A fibrose hepática congênita (FHC) é uma malformação autossômica recessiva, caracterizada por um variável grau de fibrose e proliferação de ductos biliares, descrita principalmente em pessoas, e raramente relatada em bovinos de raças europeias. Além da fibrose hepática em bezerros, esta síndrome tem sido associada à ascite e edema subcutâneo. O presente trabalho apresenta os achados anatomopatológicos do primeiro relato de FHC em um feto bovino da raça nelore. O bezerro natimorto foi retirado por meio de cesariana devido à distocia. Na necropsia foram verificadas alterações características da FHC, como grande aumento de volume abdominal associado à fibrose hepática e marcado edema subcutâneo. O exame histológico do fígado revelou ilhas de fibrose periportal e porto-portal, separando o parênquima em nódulos de tamanhos variáveis e contendo numerosos ductos biliares irregulares de tamanhos anormais.

Tumores renales pediátricos y su posible asociación con poblaciones endogámicas en el centro de Argentina / Pediatric renal tumors and their possible relation with endogamous populations in central Argentina

Introducción: Existen pocas investigaciones sobre factores de riesgo de tumores renales pediátricos. Objetivo: Caracterizar en detalle regiones geográficas de alta incidencia de tumores renales pediátricos en el centro de Argentina y su posible vinculación con factores de riesgo genéticos. Métodos: El área de estudio comprendió la provincia de Córdoba (Argentina). Se generó una base de datos de incidencia del cáncer renal infantil con información del Registro Provincial de Tumores. Se realizaron análisis de conglomerados espaciotemporales. En localidades dentro de los conglomerados, se llevaron a cabo entrevistas en profundidad a informantes claves. Resultados: Se registraron 56 casos de tumores renales pediátricos en el Registro en el periodo 2004-2013. Se detectó un conglomerado espacial significativo que abarca siete departamentos de la provincia. En esa región se concretaron seis entrevistas en profundidad a informantes claves. Los entrevistados resaltaron la mayor frecuencia de enfermedad genética de Sandhoff y las prácticas de endogamia (corroboradas en numerosos resultados científicos). A partir de estos datos se determinaron zonas de superposición de tumores renales y de la enfermedad de Sandhoff. Conclusiones: Se detectó una región particular de la provincia con alta frecuencia de tumores renales pediátricos y de la enfermedad de Sandhoff. Numerosos estudios científicos determinan que la endogamia es el factor de riesgo que aumenta la frecuencia de esta enfermedad en esta región. En futuras investigaciones se deberá corroborar si la endogamia también actúa aumentando la incidencia de tumores renales infantiles(AU)

Introduction: There is little research on risk factors of pediatric renal tumors. Objective: To characterize in detail the geographic regions of greatest incidence of pediatric renal tumors in central Argentina and exploring their possible link to genetic risk factors. Methods: The study area comprised the province of Córdoba (Argentina), and a database of pediatric renal tumors incidence was generated with information from the Provincial Tumor Registry. Analyses of spatio-temporal clusters were performed. In-depth interviews with key informants were carried out at localities within the conglomerates. Results: 56 cases of pediatric renal tumors were registered in the Provincial Registry of Tumors between 2004 and 2013. A significant spatial conglomerate was detected, covering seven districts of the province. In that region, six in-depth interviews were conducted with key informants. Interviewees highlighted the increased frequency of Sandhoff genetic disease and endogamous practices (corroborated in numerous scientific results). From these data, zones of overlap of renal tumors and of Sandhoff disease were determined. Conclusions: A particular region of the province was detected with high frequency of pediatric renal tumors and Sandhoff disease. Numerous scientific studies have determined that endogamy is the risk factor that increases the frequency of Sandhoff disease in this region. In future research, it should be confirmed whether it also acts by increasing the incidence of renal tumors in children(AU)

Change In Height Of The Individual Among The Selected Ethnic Groups

Background: People belonging to different ethnic groups seem to have differences in their height. The variation ofis known to be determined by genetic as well environmental factors. However very less has been studied aboutthe relation between the height and ethnicity of the individual. The proposed study dealt with finding out therelation between height and ethnicity of the individual.Objectives: The aim was to assess the relation between height and ethnicity of the individual and also to see ifthere is any environmental influence on the particular ethnicityMaterials and Methods: The method followed was a cross sectional study conducted in the medical studentsstudying in Kathmandu Medical College and Teaching Hospital (KMCTH), Duwakot, Bhaktapur, Nepal. Height wasmeasured by a stadiometer and ethinicity was recorded as stated by the respondents.Result: The ethnic groups in our study included the religious groups. Majority of subjects of participation werefound to be Hindus (93.86%). The Hindu ethnic group was seen to be taller with a height range of minimum andmaximum of 144.1 cm and 187.1 cm respectively. Among the subgroups, the highest mean height was observed tobe of the Madhesi (168.75 cm) followed by the Chhetris; the Newars and the Marwadis were seen to be withminimal height among the ethnic categories.Conclusion: Taller body height in this study was seen in the people in plain region where they are exposed togreater oxygen saturation level and the warmer climate. Hence, the diversity of the geographical topography canbe taken into consideration for its environmental factors which can have beneficial influence on the the heightof the ethnic group/individual so that they can attain the maximum possible height.

Effect of non-genetic factors on milk yields traits in Simmental cows raised subtropical climate condition / Efeito de fatores não genéticos em produção de leite em gado simmental criado em condições climáticas subtropicais

The aim of this study was to identify non-genetic parameters affecting the milk yield traits of Simmental cows raised in subtropical climate conditions. Records on 1904 lactation events of Simmental cows (N=706) during 2001-2014 were included in this study. A generalized linear model was used to investigate the effect of non-genetic factors (calving year, season, and age; lactation number; birth type; and calf sex) on real milk yield (MY), adjusted 305-d lactation milk yield (305-d MY), adjusted mature-age 305-d lactation milk yield (305-d MAMY), lactation length (LL), and dry periods (DP). The MY, 305-d MY, 305-d MAMY, LL, and DP were 6413.04kg, 6060.30kg, 6871.21 kg, 329.88d, and 57.67d, respectively, in Simmental cows. The effects of calving year, birth type, and calf sex on MY were significant (P<0.05). Calving year, calving age, birth type, and calf sex had significant effects on 305-d MY (P<0.05). The 305-d MAMY was significantly affected by calving year, birth type, and calf sex (P<0.05). In conclusion, based on the findings of the present study, the milk yield traits of Simmental cows raised at subtropical climate conditions with ideal feeding and management strategies was in accordance with world standards.(AU)

O objetivo desse estudo foi identificar parâmetros não genéticos afetando características de produção de leite em vacas Simmental criadas em condições climáticas subtropicais. Registros em 1904 eventos de lactação de vacas Simmental (N=706) de 2001 a 2014 foram incluídos nesse estudo. Um modelo linear generalizado foi utilizado para investigar o efeito de fatores não genéticos (ano, estação, e idade de parto; número de lactação; tipo de nascimento; sexo do bezerro) em produção real de leite (MY), produção ajustada 305-d (305-d MY), produção ajustada madura 305-d (305-d MAMY), duração de lactação (LL), e períodos secos (DP). MY, 305-d MY, 305-d MAMY, LL, e DP foram 6413.04kg, 6060.30kg, 6871.21kg, 329.88d e57.67d, respectivamente, em vacas Simmental. Os efeitos de ano de parto, tipo de parto e sexo do bezerro em MY foram significantes (P<0.05). O 305-d MAMY foi significativamente afetado por ano de parto, tipo de parto e sexo do bezerro (P<0.05). Conclui-se que, baseado nos achados do presente estudo, a produção de leite de vacas Simmental criadas em condições climáticas temperadas com alimentação e estratégias de manejo ideais estava de acordo com padrões mundiais.(AU)

Autism spectrum disorder and folate metabolism / 国际儿科学杂志

Folate acts as a co-factor in one carbon metabolism,playing an essential role in the synthesis and transformation of purine and pyrimidine precursors of nucleic acids simultaneously. Autism spectrum disorder ( ASD) is a neurodevelopmental disorder with unknown pathogenesis characterized by social defects and repeti-tive behaviors. The risk of ASD is associated with the functional disorders of the enzyme related to the folate me-tabolism,the disorder of folate transportation,and the genetic variation related to the folate metabolism. Several studies indicated that there might be a subtype in patients with ASD whose 5-methyltetrahydrofolate in cerebro-spinal fluid( CSF) was low,however,the level of folate outside the central nervous system was normal,which re-sulted from the exist of the folate receptor alpha autoantibodies. The children with ASD found positive for the fo-late receptor alpha autoantibodies were improved a lot when taking folinic acid or leucovorin calcium orally. This article reviewed the correlation between folate metabolism and the pathogenesis and treatment of the ASD.

Research progress on factors affecting accumulation of volatile oil from Atractylodes Macrocephala / 中草药

Atractylodes macrocephala, belonging to Compositae family, whose dry rhizome as its medicinal parts, is a famous traditional Chinese medicine, with the function of tonifying spleen, aesthetic improvements and so on. Its main medicinal ingredient is volatile oil, which has obviously effect of antitumor. Recently, the market demand of this herb gradually increased, while its quality has not been guaranteed. This paper concluded the process of biosynthesis and transformation of sesquiterpenoids, an important secondary metabolite in violate oil; And firstly reviewed the factors affecting the accumulation of volatile oil in A. macrocephala in the aspects of inheritance and ecology. It is expected to provide a reference for the further study of the biosynthesis and biotransformation of sesquiterpenoids in A. macrocephala and help to improve the yield and quality of the volatile oil.

Factores psicosocio-inmunogenéticos en pacientes diabéticos con complicaciones vasculares / Psychological, social and immunogenetic factors observed in diabetic patients with vascular complications

El desarrollo de la medicina, la ciencia y los medios científicos técnicos, permiten explicar de manera didáctica e integral con un enfoque dialéctico-materialista los fenómenos complejos y sus interrelaciones entre sistemas, en diferentes entidades clínicas como la diabetes mellitus, objeto del presente trabajo. Describir la interacción entre factores psicosocio-inmuno-genéticos en pacientes diabéticos con complicaciones vasculares, fue el objetivo de nuestro trabajo. Se trabajó con las bases de datos PubMed, MedLine, SciELO, Ebsco y artículos científicos publicados en revistas cubanas entre 2011-2015. Se revisaron trabajos en español, inglés y francés. Se analizó la interrelación dialéctica e indisoluble de la función integradora del sistema inmune con los sistemas nervioso y endocrino, la que descansa en las relaciones entre los fenómenos psíquicos y orgánicos, y esto solo puede comprenderse completamente cuando se tiene en cuenta la interacción del hombre con el medio social en que se desenvuelve, así como la relación de este con la naturaleza, que es en definitiva el centro de su actividad creadora y transformadora y sobre todo el análisis de las implicaciones prácticas que conlleva para el campo de la clínica y la ciencia. Podemos concluir que el conocimiento de las interacciones entre factores psicosocio-inmuno-genéticos en pacientes diabéticos tipo 2 con complicaciones vasculares, es imprescindible para comprender la dinámica de los fenómenos bioquímicos, así como entre los tres sistemas integradores: neurológico, endocrino e inmune que tienen lugar en estos pacientes, lo que posibilita el tratamiento más adecuado y eficaz y la prevención de la enfermedad hereditaria en familias portadoras(AU)

The development of medicine, science and technical scientific devices allow explaining didactically and comprehensively, with a dialectical-materialist approach, complex phenomena and their interrelationships in different clinical conditions such as diabetes mellitus The objectives of this paper were to describe the interaction among psychological, social, and immunogenetic factors in diabetic patients with vascular complications and to address how these factors are associated with immunosupression state of type 2 diabetic patients. For this purpose, worked with PubMed, MedLine, SciELO, EBSCO databases and scientific articles published in 2011-2015 journals were consulted. A number of papers in Spanish, English and French languages were reviewed. The dialectic and permanent interrelation of the integrative function of the immune system with the nervous and endocrine systems, which is based on the relationship between psychic and phenomena, was analyzed. All this can only be fully understood when one takes into account man's interaction with the social environment as well as his relationship with nature, which is ultimately the core of their creative and transforming activity and particularly, the analysis of the practical implications for the clinical and scientific fields. The knowledge of the interactions among systems is imperative to understand homeostasis and dynamics of biochemical phenomena that occur in humans, both in the relationship between the biological and the psychic areas, and in the biological and the socio environmental areas, thus allowing scientific advances in this field for the development of more effective therapeutic and prevention methods(AU)

Research progress on genetic etiology of keratoconus / 眼科新进展

Keratoconus (KC) is a common cornea ectatic disorder characterized by myopia,irregular astigmatism and other visual impairment caused by corneal thinning and cone-shaped protrusion.With a wide range of effects,the etiology of this disease is unknown,and genetic factors may be involved in its pathogenesis.This paper summarizes the research progress on KC genetic etiology for reviewing the selected candidate genes and loci based on traditional/genome-wide linkage studies,genome-wide association studies and central corneal thickness in recent years.Genetic studies on KC pathogenesis will advance our understanding of this disease and further promote the development of potential therapies.

Genetic factors contributing to human primary ciliary dyskinesia and Male infertility / 亚洲男科学杂志(英文版)

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.

Environmental risk factors for induction of the inflammatory bowel disease / 中南大学学报(医学版)

Inflammatory bowel disease (IBD) is a group of intestinal chronic non-specific inflammatory disease with unknown etiolog~ including ulcerative colitis and Crohn's disease.The risk factors associated with pathogenesis of IBD include environmental factors,genetic factors,and immune factors.Among them,the environmental factors include smoking,drugs,diet,infection and psychological factors.

Genética de la artritis reumatoide en Chile / Genetics of rheumatoid arthritis in Chile

La artritis reumatoide (AR) es una enfermedad sistémica crónica y autoinmune, que afecta principalmente a las articulaciones sinoviales. Al igual que ocurre con muchas enfermedades autoinmunes, la etiología de la AR es multifactorial y desconocida. La susceptibilidad genética es evidente en AR, situando su heredabilidad en aproxima-damente el 60%. La importancia del conocimiento de los factores genéticos asociados con la AR se sitúa en la contribución a la comprensión de los mecanismos patogénicos de la enfermedad, así como a su aplicación clínica que nos acerque a un tratamiento más personalizado de los pacientes por medio de marcadores de riesgo, diagnóstico y/o pronóstico. En este artículo se revisan los factores genéticos de la AR, y se hace una aproximación a la situación en poblaciones latinoamericanas en general, y chile-na en particular.

Rheumatoid arthritis (RA) is an autoimmune inflammatory rheumatic disease that affects many tissues and organs, mainly synovial joints. Like many autoimmune dis-eases, the etiology of RA is multifactorial and unknown. Genetic susceptibility is evi-dent in RA, with its heritability around the 60%.The relevance of the knowledge of the genetic factors associated with RA relies on its contribution to the understanding of the pathological mechanisms of the disease, and the clinical applicability. This better understanding let us develop a more personalized treatment through genetic markers for risk, diagnostic and prognostic. In this paper, genetic factors of RA are reviewed and a general view of the Latin American populations, and particularly Chilean, is made.

Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication impairments, as well as repetitive and restrictive behaviors. The phenotypic heterogeneity of ASD has made it overwhelmingly difficult to determine the exact etiology and pathophysiology underlying the core symptoms, which are often accompanied by comorbidities such as hyperactivity, seizures, and sensorimotor abnormalities. To our benefit, the advent of animal models has allowed us to assess and test diverse risk factors of ASD, both genetic and environmental, and measure their contribution to the manifestation of autistic symptoms. At a broader scale, rodent models have helped consolidate molecular pathways and unify the neurophysiological mechanisms underlying each one of the various etiologies. This approach will potentially enable the stratification of ASD into clinical, molecular, and neurophenotypic subgroups, further proving their translational utility. It is henceforth paramount to establish a common ground of mechanistic theories from complementing results in preclinical research. In this review, we cluster the ASD animal models into lesion and genetic models and further classify them based on the corresponding environmental, epigenetic and genetic factors. Finally, we summarize the symptoms and neuropathological highlights for each model and make critical comparisons that elucidate their clinical and neurobiological relevance.

The advances of genetic factors in spontaneous intracerebral hemorrhage and molecular mechanisms / 天津医药

Spontaneous intracerebral hemorrhage (SICH) refers the primary, non-traumatic parenchymal hemorrhage. In China, SICH accounts for about 20%-30%of total strokes. SICH is a kind of disease affected by multiple factors includ?ing environmental and genetic factors. The high morbidity and mortality cause serious damage to human health. Therefore, it is important to find etiology and risk factors of SICH. The article reviewed the progress of SICH pathogenesis in the perspec?tive of genetics and molecular biology.

Mortalidad en Vacunos entre el Nacimiento y Doce Meses de Edad en Dos Fincas Doble Propósito del estado Trujillo / Cattle Mortality from Birth to Twelve Months of Age in Two Dual Purpose Herds of Trujillo State

Para evaluar el efecto de los factores no genéticos y de grupo racial sobre la mortalidad entre 0 y 12 m de edad, se analizaron 18755 nacimientos, de dos fincas doble propósito, a través de un modelo lineal generalizado utilizando Proc Genmod (SAS), que incluyó: finca (F: 1, 2), año de nacimiento (An: 1997,…,2010), mes de nacimiento (Mn: enero,…,diciembre), sexo (Sx: macho, hembra), número de partos de la madre (Np: 1,...,9 o más), grupo racial del becerro (Gr: 50EU50CB, 50HO50CB, 50PS50CB, >CEBUE, >EIND, ML) y peso al nacer kg (Pn; ≤ 26,4; 26,5 a 33,4; ≥33,5 kg). La mortalidad fue 8,93%. El factor F fue el único que no afectó la mortalidad (P>0,13). La mayor diferencia entre An fue 318,27%, con mayor mortalidad en el año 2006 con respecto a 1998. La diferencia absoluta entre el mejor mes (marzo) y el peor mes (octubre) fue 48,96%. Las hembras murieron menos que los machos (14,13%). La mortalidad en hijos de vacas de un parto fue 10,05%, luego decrece para los hijos de vacas de 2 a 5 partos (7,91% en promedio) y un aumento en la mortalidad para los hijos de vacas de 6 a 9 partos o más (8,89%). Becerros con Pn ≤ 26,4 kg tuvieron mayor mortalidad que aquellos con Pn entre 26,5 y 33,4 kg y los que tuvieron Pn ≥33,5 kg, con 10,58; 8,89 y 6,61%, respectivamente. Sin embargo, el comportamiento de Pn puede variar dependiendo del An, debido a la presencia de la interacción de An × Pn. Los Gr con menor mortalidad fueron 50HO50CB y 50PS50CB, con 8,31 y 7,69%, respectivamente. Los factores no ambientales así como Gr tienen un impacto importante sobre la mortalidad en becerros entre el nacimiento y los 12 meses de edad.

The effect of non-genetic factors and breed group on mortality between 0 and 12 months of age was evaluated in dual purpose cattle. A total of 18755 calving, from two farms in the State of Trujillo, Venezuela, were studied. Data were analyzed by a generalized nonlinear model using the GENMOD (SAS) procedure that included: Farm (F: 1, 2), year of birth (Yb: 1997, ..., 2010), month of birth (Mb: January, ...,December), sex (Sx: male, female), calving number of the cow (Cn: 1,...,9 or more), breed group of the calf (Bg: 50EU50CB, 50HO50CB, 50PS50CB, >CEBUE, >EIND, ML), and birth weight in kg (Bw: ≤ 26,4; 26,5 to 33,4; ≥33,5 kg). Mortality was 8.93%. The F was the only factor that did not affect mortality (P> 0.13). The greatest difference between Yb was 318.27% more deaths in 2006 than in 1998. The absolute difference in mortality between the best month (March) and the worst month (October) was 48.96%. Female died less than male, with a difference of 14.13%. Mortality in first calving cows was 10.05%, which decreased for 2 to 5 calving cows (7.91% on average) with an increased mortality of 6 to 9 or more calving cows (8.89%). Calves with Bw ≤26.4 kg had a higher mortality than those with Bw between 26.5 and 33.4 kg and those who had >33.5 kg Bw, with 10.58, 8.89, and 6.61%, respectively. However, the Bw behavior may vary depending on the Yb, due to the presence of the YB*Bw interaction. The Bg with lower mortality were 50HO50CB and 50PS50CB, with 8.31 and 7.69%, respectively. It is concluded that non-environmental factors and Bg had a significant impact on mortality of calves between birth and 12 months old.

INFLUENCIA DEL TIPO DE ALIMENTACIÓN EN EL DESARROLLO DE LA ALERGIA A LA LECHE DE VACA. FACTORES INVOLUCRADOS EN EL PROCESO POR EL CUAL SE ADQUIERE LA ENFERMEDAD / Infl uence of the type of feeding in the development of cow's milk allergy. Factors involved in the process by which the disease is acquired

Antecedentes. Los resultados de las investigaciones sobre la historia natural de la alergia a la leche de vaca (ALV) no han provisto aún, de un cuadro claro y consistente que ayude en la práctica al médico tratante. Objetivo. Identifi car los factores involucrados en el desarrollo de la enfermedad en lactantes pequeños, con el fi n de determinar perfi les específi cos e índices predictivos. Lugar de realización: Río Cuarto, Córdoba, Argentina. Diseño. Análisis observacional y retrospectivo. Población. 91 niños con diagnóstico de ALV y 91 controles, de ambos sexos, menores de 6 años. Método. Análisis de factores seleccionados de las historias clínicas, su relación individual con el diagnóstico (prueba X2, Odds Ratios, diferencias de medias) y su incidencia conjunta en la probabilidad de ser ALV para determinar perfi les (análisis de correspondencias múltiple y regresión logística). Elaboración de 3 índices predictivos basados en: odds ratios individuales, los correspondientes a la regresión logística y la identifi cación de criterios mayores y menores, con su respectiva evaluación de efectividad diagnóstica (sensibilidad, especifi cidad, valores predictivos y curva ROC). Resultados. Se encontró que la edad de inicio de los síntomas, el tipo de alimentación recibida hasta el 3er mes de vida, la exposición al humo de cigarrillo, los antecedentes alérgicos maternos y el tipo de manifestaciones clínicas con que comienza la ALV son factores que con mayor probabilidad inciden en su desarrollo. Conclusión. La utilidad de estos perfi les e índices predictivos radica en una temprana identifi cación de pacientes con riesgo de padecer ALV(AU)

Background: The results of the research on the natural history of allergy to cow's milk allergy (CMA) still have not provided a clear picture and consistent that in practice helps the attending physician. Objective: to identify the factors involved in the development of the disease in young infants, in order to determine specifi c profi les and predictive clinical indexes. Setting: Río Cuarto, Córdoba, Argentina. Design: observacional and retrospective analysis. Population: 91 children with a diagnosis of CMA and 91 controls, of both sexes, under the age of 6 years. Methods: analysis of selected factors of the clinical histories, their relationship with the individual diagnosis (test X2, Odds Ratios, differences in average) and their combined impact on the probability of being CMA to determine profi les (multiple correspondence analysis and logistic regression). Elaboration of 3 predictive indices based on: individual Odds Ratios, corresponding to the logistic regression and the identifi cation of greater and smaller criteria, with its respective evaluation of effectiveness diagnoses (predictive sensitivity, specifi city, values and ROC curve). Results: we found that the age of onset of symptoms, the type of feeding received until the 3rd month of life, exposure to cigarette smoke, the maternal allergy history and the type of clinical manifestations with that begins the CMA, are factors that most likely have an impact on its development. Conclusion: the utility of these profi les and predictive clinics indexes lies in an early identifi cation of patients at risk of CMA.(AU)