Recent advance in risk factors related to restless leg syndrome / 中华神经医学杂志

Restless legs syndrome (RLS) is a common sensorimotor disorder. Although it does not pose a threat to life, it seriously affects the quality of life of patients. RLS pathogenesis is still unclear, and its incidence is associated with a variety of risk factors, including genetic factors and non-genetic factors. Genetic factors involve more than 20 risk genes, such as meis homeobox 1 ( MEIS1), BTB domain containing 9 ( BTBD9), mitogen-activated protein kinase kinase 5 ( MAP2K5), and protein tyrosine phosphatase receptor type Db ( PTPRD). Non-genetic factors include regional age, gender, obesity, medical related diseases, neuropsychiatric diseases and drugs. This paper reviews the recent advance in risk factors and related pathogenesis of RLS to provide references for early prevention and treatment of the disease.

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

Aspectos clínicos y epidemiológicos en pacientes con cáncer de pulmón en un servicio de neumología / Clinical and epidemiological aspects in patients with lung cancer in a pneumology service

Se realizó un estudio descriptivo y transversal de 125 pacientes con cáncer de pulmón, ingresados y diagnosticados en el Servicio de Neumología del Hospital General Docente Dr Juan Bruno Zayas Alfonso de Santiago de Cuba, de enero de 2015 a octubre de 2016, con vistas a caracterizarles según variables clínicas y epidemiológicas de interés, además de factores de riesgo genéticos y no genéticos, independientemente de las características histológicas y el estadio clínico del proceso neoplásico. Entre los resultados preponderantes figuraron el sexo masculino y el grupo etario de 51-69 años -- aunque fue evidente el incremento del número de féminas y de pacientes en las edades más jóvenes de la vida --, igualmente la broncoscopia como método diagnóstico, la localización en el pulmón derecho, el adenocarcinoma como variedad histológica, el tabaquismo entre los factor de riesgo no genético y el parentesco de primer grado en los factores genéticos. La mayoría de los afectados presentaban menos de un año de evolución y un elevado porcentaje correspondía al estadio IV de la enfermedad.

A descriptive and cross-sectional study of 125 patients with lung cancer, admitted and diagnosed in the Pneumology Service of Dr Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba was carried out from January, 2015 to October, 2016, aimed at characterizing them according to clinical and epidemiological variables of interest, besides genetic and non genetic risk factors, independently from the histological characteristics and the clinical stage of the neoplastic process. Among the predominant results there were the male sex and the age group 51-69, although the increment of the females and of patients in the youngest ages in the life was evident --, equally the bronchoscopy as diagnostic method, the localization in the right lung, the adenocarcinoma as histological variety, smoking habit among non genetic risk factors and the first degree relation in the genetic factors. Most of the affected patients presented a clinical course shorter than a year and a high percentage were in the stage IV of the disease.

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)

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.

Dietary Restraint Is Non-Genetically Associated with Change in Body Mass Index: The Healthy Twin Study

PURPOSE: We aimed to examine if past and more recent body mass index (BMI) changes are associated with eating behavior (EB) traits and whether these associations are due to non-genetic factors. MATERIALS AND METHODS: In 1321 Korean twins and family members, recent and past BMI change groups were defined using quartiles of BMI change between first and second visits over 2.4+/-0.9 years and BMI change between 20 years old and second visit, respectively. We applied linear mixed analysis for relationships of past or recent BMI change groups and each EB (restrained, external, and emotional EB using the Dutch Eating Behavior Questionnaire) assessed at second visit after adjusting for household effect and covariates (age, gender, education, medical history of diabetes, hypertension, and dyslipidemia, alcohol use, physical activity, smoking habit, and calorie intake). In monozygotic twin pairs, paired t-test for within-pair comparison and conditional logistic regression analysis were conducted regarding EB. RESULTS: Greater past BMI change was associated with higher restrained eating scores (P for trend=0.031), whereas greater recent BMI change was associated with higher external eating scores (P for trend=0.046). In co-twin-control analysis, twins with greater past BMI change were more likely to have higher restrained eating scores as compared with their co-twins with lower past BMI change (odds ratio 1.80; 95% confidence interval 1.13-2.87), whereas there were no associations between recent BMI change and external eating scores. CONCLUSION: Greater BMI change since 20 years old is associated with higher dietary restraint, and non-genetic factors explain this relationship.

Factores de riesgo genéticos y no genéticos asociados con la esquizofrenia / Genetic and Nongenetic Risk Factors Associated with Schizophrenia

Introducción: la esquizofrenia se encuentra entre las enfermedades psiquiátricas más severas, su prevalencia media en la población adulta con independencia de la raza o el país de origen se sitúa en torno al 1%. El municipio de Holguín presenta un número importante de pacientes. Objetivo: determinar si existe agregación de la enfermedad al identificar la contribución de factores genéticos y describir el comportamiento de factores ambientales: antecedentes prenatales y perinatales, el nivel socio-económico y el funcionamiento familiar, asociados con la esquizofrenia. Métodos: se realizó un estudio de 30 casos y 60 controles para determinar si existe agregación familiar en la esquizofrenia. El universo de estudio estuvo constituido por el total de individuos en el área de salud con el diagnóstico de esquizofrenia y antecedentes patológicos familiares de esta enfermedad. La información se recogió por medio de la entrevista. Resultados: se evidenció que existe agregación familiar de la enfermedad en las familias estudiadas; los familiares de primer grado constituyeron los más afectados. Predominó el antecedente de desnutrición materna (22 casos para el 50,0% y 26 controles para el 38,2%) así como, el bajo peso al nacer (con 17 casos para el 30,8% y 18 para el 26,4% en los controles), que es significativo. El nivel socio-económico no fue significativo. Se demostró una fuerte asociación entre este factor de riesgo y la enfermedad en las familias disfuncionales que fueron las más frecuentes (19 en los casos para el 63,3%). Conclusiones: la contribución de los factores genéticos fue determinante al predominar en las familias de primer grado afectadas, también es importante la influencia de los factores no genéticos y todo ello demuestra la necesidad de crear estrategias dirigidas al asesoramiento de las familias en riesgo de padecer esta enfermedad.

Introduction: Schizophrenia is among the most severe psychiatric disorders, the mean disease prevalence in the adult population is around 1%, without considering the race or country of study. The municipality of Holguín reports a significant number of patients. Objective: to determine whether aggregation of the disease when identifying the genetic factors as well as to describe the behavior of environmental factors (prenatal and perinatal history, socio-economic level and family functioning) associated with schizophrenia. Methods: an analytical study of 30 cases and 60 control patients to determine whether familial aggregation for schizophrenia. The study group consisted of the total number of individuals in the health area with a diagnosis of schizophrenia and pathological family history of this disease. The information was collected through an interview. Results: the results showed that there was familial aggregation of the disease in the studied families, the first-degree relatives were the most affected ones. There was a predominance of maternal malnutrition history (22 cases for 50.0% and 26 controls for 38.2%) and the low birth weight with 17 cases for 30.8% and 18 of them for 26.4% in). The socioeconomic level was not significant. The results showed the strong association between this risk factor and the disease in dysfunctional families (19 cases to 63.3%). Conclusiones: the genetic factors was determinant and nongenetic factors showed the need for strategies aimed at counseling families at risk for this disease.

Efecto del Grupo Racial y Algunos Factores no Genéticos sobre la Producción de Leche e Intervalo entre Partos en Vacas de Doble Propósito / Effect of Breed Group and Some Non-genetic Factors on Milk Production and Calving Interval in Dual Purpose Cows

Para determinar el efecto del grupo racial y algunos factores no genéticos sobre la producción de leche corregida a 244 días (P244) y el intervalo entre parto (IEP), se analizaron 9469 y 6288 observaciones, respectivamente. Los animales se encontraban a pastoreo y en dos ordeños diarios. El modelo estadístico incluyó los efectos: finca (F:1, 2), año de parto (AP: 1995-2005) para P244 y (AP: 1995-2004) para IEP; mes de parto (MP:1,2,3,……,12), número de lactancia, (NL:1,…, 6 ó más), grupo racial ≥ ¾ Bos indicus, ≥ ¾ Bos taurus, 50%Holstein-50% Cebú, 50% Pardo Suizo-50% Cebú y Mosaico lechero, (GR:>CEBU, >E, H50CB50, PS50CB50, ML) y las interacciones FxAP, FxGR, FxNL, APxMP, APxNL. Todos los efectos afectaron a P244d e IEP, a excepción del mes de parto que no fue significativo para P244. La P244 e IEP promedio fueron de 1744 kg y 467 d, respectivamente. Las diferencias entre el mejor y el peor año en P244 e IEP fueron de 275 kg y 141 d, respectivamente. El GR con mayor producción de leche y con el mayor IEP fue PS50CB50 con 1844 kg y 487 d, respectivamente y el de menor producción y menor IEP fue>CEBU con 1619 kg y 452 d. La diferencia en P244 y IEP entre la primera y la quinta lactancia fue de 181 kg y 20 d, respectivamente. Existieron diferencias entre las dos haciendas de 84 kg y 22 d para P244d e IEP, respectivamente. Es interesante resaltar que la interacción FxGR fue significativa (P<0.01), indicando que los GR se comportan de forma diferente en cada finca. Se puede concluir que los efectos no genéticos y el GR tienen una alta influencia sobre la P244 y el IEP.

In order to establish the effect of breed group and some non-genetic factors on milk production corrected at 244 days (P244) and also on calving interval (IEP), 9469 and 6288, observations were analyzed, respectively. The animals were at grazing and milked twice daily. The statistical model included effects of: farm (F: 1,2); year of birth (AP:1995-2005) for P244, and (AP: 1995-2004) for IEP; month of birth (MP: 1, … 12), lactation number, (NL: 1...6 or more), breed group: mostly cebu (≥ ¾ Bos indicus); mostly European (≥ ¾ Bos taurus); 50% Holstein-50% Zebu; 50% Brown Swiss-50% Cebu and Dairy Crossbred Mosaic (GR:>CEBU, >E, H50CB50, PS50CB50, ML) and the interactions FxAP, FxGR, FxNL, APxMP, APxNL. All studied factor affected P244d and IEP, except the month of birth which, was not significant for P244. The average P244 and IEP were 1744 kg and 466 d, respectively. The differences between the best and worst year for P244 and IEP were 275 kg and 141 d, respectively. The GR with the higher milk production and highest IEP was PS50CB50 with 1844 kg and 487 d, respectively. As well, GR with the lower production and lowest IEP was > CEBUE with 1619 kg and 452 d, respectively. The difference for P244 and IEP between the first and fifth sixth lactation was 181 kg and 20 d, respectively. There was difference between the two farms of 84 kg and 22 d for P244d and IEP, respectively. It is interesting to note that FxGR interaction was significant (P<0.01), indicating that GR performed differently on each farm. It can be concluded that the non-genetic effects and GR have a high influence on the P244 and IEP.

Efeitos genéticos e ambientais sobre a idade à primeira concepção de fêmeas suínas / Estimates of genetic and environmental effects on age at first conception of gilts

The genetic and environmental factors that affect age at first conception (AFC) of gilts were evaluated, using 466 observations of Dalland animals (C-40). The software program MTDFREML was used to assess the genetic parameters on an animal model that included as fixed effect, contemporary group and, as random effects, the additive genetic, the common litter and the error. Mean value of AFC was 241.12±25.9 days, with CV of 8.5 percent. Variance analysis showed that year (P<0.01), season (P<0.01) and herd effects (P<0.01) were important sources of variation of AFC. The throat effect (P=0.34) was not important for the AFC, but the mother of the gilts (P<0.01) was an important source of variation. The heritability estimate was 0.44±0.14 that this trait would yield genetic gain as a response to the selection.

A Study of Congenital and Early Acquired Impairment of Hearing

The present study included 261 patients (M:F=I.72: I) suffering from congenital and early acquired hearing loss. The aetiological breakup of the hearing loss was: genetic factors 47.5%. non-genetic factors 16.8%, congenital ear malfonnations 8.5% and cryptogenic factors in 27.2% cases. Autosomal recessive mode of inheritance was seen most commonly (62%) followed by autosomal dominant (20%) in the genetic group of hearing loss. Maternal Rubella was most common cause of prenatal group of hearing loss while perinataly birth anoxia and prematurity were common. Postnataly meningitis was most common aetiology ofhearing loss. Linkage analysis on SLINK 2 point autosomal data yielded LOD score of more than 3 in an autosomal dominant family.