Retrospective study on the types and characteristics of shock in polytrauma patients at different stages after trauma / 中华急诊医学杂志

Objective:To investigate the types, incidences, and clinical characteristics of shock in polytrauma patients at different stages after polytrauma.Methods:A retrospective study was conducted on polytrauma patients admitted to multiple trauma centers from June 2020 to December 2021. The inclusion criteria were patients >18 years old and treated due to polytrauma. Exclusion criteria included an admission time of more than 48 h after trauma, a history of malignancy, or metabolic, consumptive, and immunological diseases. The early stage was defined as the period of ≤48 h after polytrauma, and the middle stage was defined as the period between 48 h and 14 days. The patient’s medical history, clinical manifestations, laboratory tests, imaging examination, injury severity score (ISS), and Glasgow coma scale (GCS) were collected. The types, incidences, and clinical characteristics of shock in different stages after polytrauma were analyzed, according to the diagnostic criteria of each type of shock. The differences between the groups were compared by Student’s t test, χ2 test or Mann-Whitney U test. Results:The incidence of the early and middle stage shock after polytrauma were 73.1% and 36.4%, respectively, with statistically significant difference between stages ( P<0.01). There were significant differences in the incidence of hypovolemic shock (83.6% vs. 28.4%), distributed shock (13.7% vs. 80.9%) and cardiogenic shock (3.5% vs. 6.6%) between stages (all P<0.05). The incidence of obstructive shock (8.4% vs. 9.7%, P>0.05) was similar between stages. The incidence of undifferentiated shock was 1.6% and 1.2%, respectively. There were 9.5% patients with multifactorial shock in the early stage and 14.4% in the middle stage. Totally 7 combinations of multifactorial shock were found in different stages after polytrauma. In the early stage, the combination of HS and DS accounted the highest ratio (42.3%) and followed by HS and OS for 28.8%. In the middle stage, the combination of HS and DS was the most common (48.6%) and followed by DS and OS (24.3%). Conclusions:The incidence of shock in polytrauma patients is high. Different types of shock can occur simultaneously or sequentially. Therefore a comprehensive resuscitation strategy is significant to improve the success rate of treatment.

Agregación familiar para cardiopatía isquémica

RESUMEN Fundamento: la cardiopatía isquémica es una entidad nosológica de origen multifactorial con predisposición genética y susceptible a cambios ambientales. Objetivo: determinar la existencia de agregación familiar para cardiopatía isquémica en pacientes atendidos en consulta de cardiología en el Hospital General Docente Vladimir Ilich Lenin de Holguín. Métodos: se realizó un estudio observacional, analítico de casos y controles (estudio de agregación familiar). La muestra quedó conformada por 60 nuevos pacientes con el diagnóstico de cardiopatía isquémica (casos) y por otros 60 pacientes sin diagnóstico de enfermedad coronaria (controles), pareadas en la razón 1:1. Se emplearon como variables: sexo, edad, antecedentes familiares de cardiopatía isquémica y factores de riesgo ambientales. Se utilizó el estadígrafo Chi cuadrado. Luego se calculó el Odds Ratio para conocer la magnitud de asociación mediante la razón de productos cruzados. Resultados: en el grupo casos existió una mayor frecuencia en el antecedente familiar para cardiopatía isquémica, fue más elevada para los familiares de primer grado con 31 familiares y un 41,3 %. La hiperlipidemia se presentó como el factor de riesgo de mayor frecuencia con 36,7 % en el grupo casos y 37,1 % en el grupo controles. Se determinó un riesgo aproximadamente 4 veces mayor de padecer cardiopatía isquémica en aquellos individuos con historia familiar positiva de primer grado, mientras que los pacientes con hiperlipidemia tienen 4,8 más riesgo de padecer cardiopatía isquémica. Conclusiones: existe agregación familiar para cardiopatía isquémica y se mostró un riesgo mayor de enfermar los pacientes con historia familiar positiva para la enfermedad, principalmente con familiares de primer grado y con hiperlipidemia.

ABSTRACT Background: ischemic heart disease is a nosological entity of multifactorial origin with genetic predisposition and susceptible to environmental changes. Objective: to determine the existence of familial aggregation for ischemic heart disease in patients seen in the cardiology clinic at the Vladimir Ilich Lenin General Teaching Hospital in Holguín. Methods: an analytical observational study of cases and controls (family aggregation study) was carried out. The sample was made up of 60 new patients with a diagnosis of ischemic heart disease (cases) and another 60 patients without a diagnosis of coronary heart disease (controls), paired in a 1:1 ratio. The following variables were used: sex, age, family history of ischemic heart disease and environmental risk factors: smoking, hyperlipidemia, high blood pressure and sedentary lifestyle. The Chi square statistician was used by the Mantel-Haenszel method. The odds ratio (OR) was then calculated to determine the magnitude of association through the ratio of cross products. Results: in the case group there was a higher frequency in the family history for ischemic heart disease, being higher for first degree relatives with 31 relatives and 41.3 %. Hyperlipidemia was the most frequent risk factor with 36.7 % in the case group and 37.1 % in the control group. An approximately 4-fold increased risk of suffering from ischemic heart disease was determined in those individuals with a positive first-degree family history, while patients with hyperlipidemia have a 4.8 times greater risk of suffering from ischemic heart disease. Conclusions: there is family aggregation for ischemic heart disease and a higher risk of getting sick was shown in patients with a positive family history for the disease, mainly with first-degree relatives and with hyperlipidemia.

A study of clinical and etiological profile in elderly individuals presenting to a tertiary care center of South India with altered mental status

Background and Objectives: Altered mental status (AMS) is a challenging diagnosis in elderly patients and has a wide range of etiologies. The aim of this study was to know the clinical and etiological profile in the elderly, so that physicians will be better aware of AMS backgrounds and reducing morbidity and mortality rates among the patients. Materials and Methods: This was a prospective observational study conducted at the emergency department (ED) and medical intensive care unit (MICU) of a tertiary care hospital in South India from November 1, 2019, to October 31, 2020. Patients aged 65 years and older who presented to the ED and MICU with AMS were included in this study. They were evaluated clinically and necessary investigations were done to know the etiologies. Results: Among 100 elderly patients, 64% belonged to young old (age group of 65–74 years), 30% belonged to old (age group of 75–84 years), and 6% belonged to oldest old (>85 years). Sixty?one percent were male and 39% were female. The most common cause for AMS in elderly was primary neurological cause (40%, cerebrovascular accident was most common cause). The other causes were metabolic encephalopathy (29%, hyponatremia being most common) followed by multifactorial causes (24%). Infections and hypertensive encephalopathy were noted in 6% and 1% respectively. The common comorbidities found were hypertension (71%) and type 2 diabetes mellitus (50%), and 28% had diabetes mellitus and hypertension, whereas 25% had multiple comorbidities. Conclusion: The elderly patients who present with AMS must be screened for the above etiologies. This study helps the physicians to have an idea regarding common causes of AMS in elderly patients at presentation, hence appropriate management approach thus helps in reducing morbidity and mortality.

Actualización sobre los factores de riesgo asociados a la mortalidad del cáncer gástrico / Update on the risk factors associated with gastric cancer mortality

Introducción: El cáncer gástrico constituye la segunda causa de muerte en la población mundial. En Cuba ocupa el octavo lugar. La etiología es multifactorial. La infección por Helicobacter pylori, el tipo de alimentación, la susceptibilidad genética y los antecedentes familiares son algunos de sus factores de riesgo. Objetivo: Actualizar en aspectos relacionados con los factores de riesgos que intervienen en la mortalidad por cáncer gástrico. Material y Métodos: Se realizó una revisión sistemática en bases de datos de artículos publicados hasta octubre de 2020 que brindaran información sobre los factores de riesgo asociados a la mortalidad por cáncer gástrico. Resultados: Se incluyeron 31 artículos, el factor de riesgo más estudiado fue la infección por Helicobacter pylori con un rol importante en la carcinogénesis del CG, los factores que con mayor frecuencia se asocian a la mortalidad por cáncer gástrico son la edad, el sexo, la dieta y los antecedentes familiares. Conclusiones: Existe una elevada heterogeneidad en los factores de riesgos estudiados. La identificación de los factores asociados puede constituir eje de la prevención y control de esta enfermedad.(AU)

Introduction: Gastric cancer is the second cause of death in the world population. It ranks eighth in Cuba. The etiology is multifactorial. Helicobacter pylori infection, diet, genetic susceptibility, and family history are some of its risk factors. Objective: To update the aspects related to risk factors involved in gastric cancer mortality. Material and Methods: A systematic review was carried out through the search of articles published until October 2020 that provide information about risk factors associated with gastric cancer mortality. Results: A total of 31 articles were included; the most studied risk factor was H. pylori infection, which plays an important role in the carcinogenesis of gastric cancer; the factors most frequently associated with mortality from gastric cancer are age, sex, diet, and family history. Conclusions: There is a high heterogeneity among the risk factors studied. The identification of associated risk factors can be the axis for the prevention and control of this disease(AU)

Agregación familiar para la hipertensión arterial / Family aggregation of arterial hypertension

Introducción: La hipertensión arterial es una de las enfermedades crónicas causada por la interacción de los factores etiopatogénicos genéticos y ambientales. Objetivo: Determinar la existencia de agregación familiar en la hipertensión arterial. Material y Métodos: Se realizó un estudio observacional analítico de casos y controles, para determinar la agregación familiar de la hipertensión arterial. El universo estuvo constituido por todos los pacientes (257) con factores de riesgo de hipertensión arterial; la muestra quedó conformada por 60 pacientes distribuidos en 30 pacientes hipertensos (casos) y 30 pacientes sin el diagnostico (controles). La información recogida se procesó mediante la utilización del paquete estadístico Epinfo. Resultados: En el grupo casos, predominaron familiares de primer grado con antecedentes de hipertensión (43,9 por ciento) y para los controles, los familiares de grado 2 fueron los que representaron 44,1 por ciento. Los malos hábitos dietéticos se presentaron como el factor de riesgo de mayor frecuencia en ambos grupos con 28,7 por ciento y 47,5 por ciento, respectivamente. Para los pacientes con antecedentes familiares positivos (OR= 1,93, p= 0,008 IC 95 por ciento=1,18-3,16) tuvieron más riesgo de padecer hipertensión al igual que para el factor de riesgo obesidad (OR= 9,03, IC 95 por ciento= 2,80-29,1 p =0,0001). Conclusiones: Se determinó la existencia de agregación familiar para la hipertensión arterial, con mayor riesgo de padecer la enfermedad en las personas con historia familiar en primer grado positiva para la hipertensión y la presencia de obesidad(AU)

Introduction: Arterial hypertension is one of the chronic diseases caused by the interaction of genetic and environmental etiopathogenic factors. Objective: To determine the existence of family aggregation of arterial hypertension. Material and Methods: A cross-sectional analytical study of cases and controls was carried out to determine the family aggregation of arterial hypertension. The universe consisted of all (257) patients diagnosed with risk factors for high blood pressure; the sample was made up of 60 patients distributed in 30 hypertensive patients (cases) and 30 patients without diagnosis (controls). The information collected was processed using the Epi info statistical software. Results: In the group of cases, first-degree relatives with history of hypertension predominated (43.9 percent ). In the group of controls, second-degree relatives represented the 44.1 percent . Bad dietary habits were presented as the most frequent risk factor in both groups with 28.7 percent and 47.5 percent , respectively. Patients with positive family history (OR= 1.93, p = 0.008 95 percent CI = 1.18-3.16) and those suffering from obesity (OR = 9.03, 95 percent CI = 2.80-29.1 p = 0.0001) were at higher risk of developing hypertension. Conclusions: The existence of family aggregation of arterial hypertension was determined. People with first-degree positive family history of hypertension and presenting obesity were at higher risk of suffering from the disease(AU)

Agregación familiar en individuos con hipertensión arterial esencial y factores de riesgo / Family Aggregation in Individuals with Essential Arterial Hypertension and Risk Factors

RESUMEN Fundamento: la hipertensión arterial es la elevación constante de las cifras de tensión arterial con un origen poligénico y mutifactorial. Es la hipertensión arterial una enfermedad de alta incidencia y prevalencia a nivel mundial. Objetivo: demostrar la agregación familiar para hipertensión arterial esencial y factores de riesgo en individuos afectados. Método: se realizó una investigación observacional, analítica, longitudinal y retrospectiva, de caso/ control a partir de la consulta de referencia para enfermedades crónicas no transmisibles en Banes, provincia Holguín durante el período octubre 2019 marzo 2020. El universo abarcó la totalidad de individuos diagnosticados y sus familias. Por muestreo aleatorio simple, se obtuvo la muestra de 91 casos. Se conformó el grupo control a razón de 3:1 que incluyó 273 individuos. Fueron cumplidos los requisitos bioéticos. Se aplicaron criterios de inclusión/exclusión. Fueron utilizados los estadígrafos: Chi cuadrado, Odd Ratio (OR), incluidos p e intervalo de confianza. Se operacionalizaron las variables: edad, sexo, grado de consanguinidad y factores de riesgo. Se obtuvo el árbol genealógico. Resultados: los grupos de edades 56-65 años y 66 años y más, resultaron los más afectados. Predominó el sexo masculino (53,9 %). Los familiares de primer y segundo grado de consanguinidad mostraron la mayor incidencia de la enfermedad. Se encontró asociación entre la enfermedad y el antecedente familiar de esta (X2=321,4), con un riesgo incrementado para los familiares de los casos respecto a los controles (OR=10,93). Los factores de riesgo predominantes fueron: tabaquismo (OR=2,18) y el antecedente familiar de enfermedad (OR=0,74). Se demostró la asociación de factores de riesgo con la enfermedad (X2=176,9). Conclusiones: la hipertensión arterial esencial es una enfermedad multifactorial, compleja y poligénica con agregación familiar demostrada.

ABSTRACT Background: arterial hypertension is the constant elevation of blood pressure figures with a polygenic and multifactorial origin. Hypertension is a disease of high incidence and prevalence worldwide. Objective: to demonstrate the familial aggregation for essential arterial hypertension and risk factors in affected individuals. Method: an observational, analytical, longitudinal and retrospective case / control investigation was carried out from the reference consultation for chronic non-communicable diseases in Banes, Holguín province during the period from October 2019 to March 2020. The universe covered all individuals diagnosed and their families. By simple random sampling, the sample of 91 cases was obtained. The control group was formed at a ratio of 3:1 which included 273 individuals. Bioethical requirements were met. Inclusion / exclusion criteria were applied. The following statistics were used: Chi square, Odd Ratio (OR), including p and confidence interval. The variables were operationalized: age, sex, degree of consanguinity, and risk factors. The genealogical tree was obtained. Results: the age groups 56-65 years and 66 years and over, were the most affected. The male sex predominated (53.9 %). First and second-degree relatives of consanguinity showed the highest incidence of the disease. An association was found between the disease and its family history (X2 = 321.4) with an increased risk for relatives of the cases compared to the controls (OR = 10.93). The predominant risk factors were: smoking (OR = 2.18) and family history of disease (OR = 0.74). The association of risk factors with the disease was demonstrated (X2 = 176.9). Conclusions: essential arterial hypertension is a multifactorial, complex and polygenic disease with demonstrated familial aggregation.

Enterocolitis necrotizante / Necrotizing enterocolitis

Resumen La enterocolitis necrotizante (ECN) es la urgencia más frecuente en el periodo neonatal asociada al sistema digestivo; afectando principalmente a los neonatos pretérmino con muy bajo peso al nacer. La etiología continúa siendo desconocida, se considera una enfermedad multifactorial, donde la prematuridad es el principal factor de riesgo, todo esto relacionado con la inmadurez del tracto gastrointestinal, una motilidad disminuida que genera una mayor permeabilidad en la mucosa y con esto facilita la translocación bacteriana. Su diagnóstico suele ser muy complejo y suele pasar desapercibido en muchas ocasiones generando una mortalidad importante de hasta el 30% donde su principal complicación es la perforación intestinal y el consiguiente shock séptico. Las opciones terapéuticas se dividen en 2 grupos: médico y quirúrgico, ambos con complicaciones importantes que afectan el desarrollo de los niños que la padecen donde las más importantes abarcan desde alteraciones del crecimiento y neurodesarrollo hasta síndrome de intestino corto y desnutrición.

Abstract Necrotizing enterocolitis (NEC) is the most common emergency in the neonatal period associated with the digestive system; mainly affecting preterm neonates with very low birth weight. Etiology remains unknown, considered a multifactorial disease, all this related to the immaturity of the gastrointestinal tract, a decreased motility that generates greater permeability in the mucosa and with this facilitates bacterial translocation. Diagnosis is usually very complex and often goes unnoticed on many occasions leading to a significant mortality of up to 30% where its main complication is intestinal perforation and consequent septic shock. Therapeutic options are divided into 2 groups: medical and surgical, both with major complications affecting the development of children with it where the most important from growth and neurodevelopmental alterations to short bowel syndrome and malnutrition.

Agregación familiar y factores de riesgo de cáncer de mama en individuos afectados / Family Aggregation and Risk Factors for Breast Cancer in Affected Individuals

RESUMEN Fundamento el cáncer de mama es una enfermedad sistémica, multifactorial, polimorfa que se desarrolla en mujeres sin antecedentes familiares de la enfermedad. La posibilidad de herencia familiar se describe en 15-20 % de los casos. Objetivo: determinar la agregación familiar para cáncer de mama y los factores de riesgo asociados a este padecimiento. Método: se realizó un estudio analítico, retrospectivo, tipo caso y control, a partir de individuos que acudieron a la consulta municipal de riesgo genético, ubicada en el Policlínico Universitario César Fornet Frutos del municipio Banes, provincia Holguín en el período julio-diciembre de 2019 con el objetivo de comprobar la existencia o no de agregación familiar del cáncer de mama. Por muestreo aleatorio simple, se obtuvo la muestra conformada por 47 casos y 141 controles. Las variables operacionalizadas fueron: antecedentes personales y familiares de enfermedad oncológica, edad, menarquia, edad a la menopausia, ingestión de píldora anticonceptiva, edad de nacimiento de primer hijo, lactancia materna, ingestión de alcohol, hábito de fumar, historia familiar. Se aplicó un cuestionario diseñado a los fines del estudio. El cálculo de Chi cuadrado y Odds Ratio permitieron estimar asociación entre variables y la magnitud de asociación. Resultados: predominó el grupo de edad de 60-69 años. Los factores de riesgo hábito de fumar (OR=4,1), la ingestión de píldora anticonceptiva (OR=3,1), y el alcohol (OR=2,8) presentaron la mayor asociación a la enfermedad. Se propuso una estrategia de asesoramiento genético a partir de los resultados. Conclusiones: la confluencia de factores genéticos y ambientales, determina la agregación familiar del cáncer de mama.

ABSTRACT Foundation: breast cancer is a systemic, multifactorial, polymorphic disease that develops in women with no family history of the disease. The possibility of family inheritance is described in 15-20 % of cases. Objective: to determine the family aggregation for breast cancer and the risk factors associated with this disease. Method: an analytical, retrospective, case-control type study was carried out, from individuals who attended the municipal genetic risk consultation located at the César Fornet Frutos University Polyclinic, Banes municipality, Holguín province in the period July-December 2019 aimed at verifying the existence or not of family aggregation of breast cancer. By simple random sampling, the sample consisting of 47 cases and 141 controls was obtained. The sample, consisting of 47 cases and 141 controls, was obtained by simple random sampling. The variables were: personal and family history of oncological disease, age, menarche, age at menopause, contraceptive pill ingestion, first child age of birth, breastfeeding, alcohol intake, smoking, family history. A questionnaire designed for the purposes of the study was applied. The Chi square calculation and Odds Ratio allowed estimating association between variables and the magnitude of association. Results: the age group of 60-69 years prevailed. The risk factors for smoking (OR = 4.1), ingestion of the contraceptive pill (OR = 3.1), and alcohol (OR = 2.8) had the highest association with the disease. A genetic counseling strategy was proposed based on the results. Conclusions: confluence of genetic and environmental factors determines family aggregation of breast cancer.

A Clinico Epidemiological Study of Periocular Hyperpigmentation.

Periorbital pigmentation is a relatively common condition encountered in dermatology practice. The aetiology of periocular pigmentation may be multifactorial. There is a scarcity of data regarding the prevalence of the condition mainly because of its transitory and floating nature, the lack of reasonable etiologic explanations, and the fact that the condition is considered just a cosmetic nuisance. We wanted to study the clinical and epidemiological characteristics of periocular hyperpigmentation and assess the proportion of various determinants in adult patients.METHODSA descriptive study was done among 130 adult patients with periocular pigmentation who attended a tertiary care hospital in Kerala during a period of one and a half years. A detailed history, dermatological and system examination, Wood’s lamp & relevant laboratory investigations were done and results were analysed using appropriate biostatistics.RESULTSMajority of the patients belonged to 2nd decade and females predominated. Atopy and regular cosmetic usage were seen in 72% of the patients. Involvement of both eyelids was seen in 53.8% & post inflammatory was the most common type seen. Iron deficiency anaemia was the commonly associated systemic illness seen and stress aggravated the condition in 55.4% of our patients. 51.5% had grade 3 pigmentation. Wood’s lamp examination showed a predominance of epidermal pigmentation in 49.2% patients.CONCLUSIONSAlthough considered a phenomenon within the limit of physiology, patients, especially women, are really bothered and concerned about it, even relating the presence of dark circles with significant impairment on their quality of life. A proper understanding of the etiopathogenesis is important which includes identification and therapeutic targeting of each contributing etiologic factor for an individual patient.

Role of genetic variability in Mendelian and multifactorial diseases

The first draft of the human genome sequencing published in 2001 reported a large number of single nucleotide polymorphisms (SNPs). Given that these polymorphisms could practically represent all the variability involved in the susceptibility, protection, severity, among other aspects, of various common diseases, as well as in their response to medications, it was thought that they might be “the biomarkers of choice” in personalized genomic medicine. With the new information obtained from the sequencing of a larger number of genomes, we have understood that SNPs are only an important part of the genetic markers involved in these traits. In addition to SNPs, other variants have been identified, such as insertions/deletions (INDELs) and copy number variants (CNVs), which – in addition to classic variable number tandem repeats (VNTRs) and short tandem repeats (STRs) – originate or contribute to the development of diseases. The use of these markers has served to identify regions of the genome involved in Mendelian diseases (one gene-one disease) or genes directly associated with multifactorial diseases. This review has the purpose to describe the role of STRs, VNTRs, SNPs, CNVs and INDELs in linkage and association studies and their role in Mendelian and multifactorial diseases.

Caries history and associated factors in adolescents residing in SENAME centers in Province of Concepción

Adolescent's oral health status is able to determine not only their general health status, but also the quality of health in their adult life. Therefore, a poor oral health during adolescence might also have a negative impact on the long-term quality of life. The social determinants of health, which consist of the social conditions in which they live and develop their lives, are relevant ele-ments in the families of these adolescents and have an impact on their health. The aim of this study is to evaluate the caries history and associated factors in adolescents residing in SENAME centers in Province of Concepción. No statistically significant differences were observed among the number of decayed, missing and filled teeth by sex, by presence of psychiatric background or by admission cause. This study analyzed a sample population with multiple risk factors, which make it more susceptible of developing alterations in oral health. The great majority of the results of our investigation proved that there weren't variables significantly connected or associated with caries history.

Complications of Diabetes Mellitus: Prevention in Type 2 Diabetes Mellitus

@#Type 2 Diabetes Mellitus is a complex disorder which has many associated comorbidities besides hyperglycaemia. Micro and macrovascular complications develop as a result of poor risk factor control and contribute to the disability, reduced quality of life and reduced life expectancy associated with the disease. Intensive glucose control and, more importantly, comprehensive care involving treatment of all modifiable cardiovascular risk factors over a sustained period decreases the risk of morbidity and mortality especially in people newly diagnosed with Type 2 Diabetes Mellitus. The need to recognise subgroups of people with diabetes with increased risks of complications and the importance of individualised treatment are also discussed. Early intensive treatment and control of risk factors provides the opportunity for greatest accrual of benefit over the longer term.

Síndrome De Tourette Familiar: Reporte De Caso Y Revisión De La Literatura / Familial Tourette Syndrome: Case Report And Review Of Literature

Resumen El síndrome de Tourette es un trastorno neuropsiquiátrico de inicio en la infancia caracterizado por múltiples tics motores y vocales de al menos un año de duración. Se desconoce su etiología exacta, pero se han involucrado las vías neuronales fronto-subcorticales e interacciones complejas entre factores sociales, ambientales y genéticos. Estudios genéticos han reportado loci de susceptibilidad en genes implicados en conexión sináptica, sin embargo, hace falta evidencia en muestras de mayor tamaño. Este reporte de caso describe un joven de 14 años con historia personal y familiar de síndrome de Tourette, sugiriendo un mecanismo de herencia autosómico dominante.

Abstract Tourette syndrome is a childhood neuropsychiatric disorder characterized by multiple motor and vocal tics of at least one year. Its exact etiology is unknown, but fronto-subcortical neural pathways and complex interactions between social, environmental and genetic factors have been involved. Genetic studies have reported susceptibility loci in genes involved in synaptic connection, however, evidence is needed in larger samples. This case report describes a 14-year-old boy with a personal and family history of Tourette's syndrome, suggesting an autosomal dominant mechanism of inheritance.

Factores de riesgo de la hipoacusia infantil en Holguín, Cuba / Risk factors of infants’ hypoacusic in Holguín, Cuba

Introducción: los trastornos auditivos constituyen un problema de salud, que afecta a una proporción importante de la población infantil. Al nacer, aproximadamente uno de cada mil niños, presentan pérdida auditiva severa bilateral y, diez de cada cien tienen trastornos de moderados a ligeros. Objetivo: caracterizar el comportamiento de los factores de riesgo audiológicos, que provocan hipoacusias neurosensorial (HNS), en niños menores de seis años. Métodos: se realizó un estudio descriptivo de 63 pacientes, a los que se diagnosticaron hipoacusia neurosensorial. Resultados: en el grupo etáreo más significativo, fue el de 4 a 6 años de edad, con un 57,1%. Predominó el sexo masculino, con un 63,5%. La hipoacusia más frecuente fue la adquirida, con 62%. La hipoxia con ventilación asistida, ototoxicidad, los antecedentes de hipoacusia familiar, los de causa desconocida, y la hipertensión arterial en el embarazo, fueron los factores de riesgo que causaron hipoacusia en la infancia. La edad de diagnóstico más frecuente es de cero a dos años, con el 49,2%; unida a la hipoacusia neurosensorial bilateral de severa a profunda, de etiología multifactorial. Conclusiones: el screening universal de todos los niños nacidos, para evitar trastornos en el lenguaje y el aprendizaje, es de suma importancia.

Introduction: auditory disorders affect large number of children. About 1 of 1000 children present birth severe bilateral auditive loss and 10 of 100 suffer light to moderate disorders. Objective: to characterize risk factors´ audiological behavior of children under six years old, affected by sensorineural hypoacusia. Methods: descriptive study with a sample of 63 neurosensorial hipoacusia patients. Results: most cases were at the 4 to 6 years old group, with 57.1%. Males predominated with a 63.5%. Acquired hypoacusia was the most frequent up to 62%. Hypoxia and assisted ventilation, ototoxicity, unknown hypoacusia family history, and hypertension in pregnancy, were risk factors present, during the study. More frequent diagnosis ages were from 0 to 2 years old, with 49.2%, and the most common type was, from severe to profound, sensorineural bilateral hypoacusia of multifactorial etiology. Conclusions: universal screening to all children is very important to the early detection of hypoacusia and to avoid language and learning disturbances.

SEM Evaluation of the effect of root conditioning with citric acid: An In-Vitro study

Background Root conditioning agents reveal the orifices of dentinal tubules and the dentin collagen matrix and provide a substrate which plays a role chemotaxis migration and proliferation of cells involved in periodontal healing and formation of new connective tissue attachment. Materials and methods A total of 15 extracted teeth which were periodontally involved were utilised for the study. All the teeth received 25% citric acid application. The samples were subjected to scanning electron microscope evaluation. The photomicrographs were analysed by image software analyser to assess its surface area. Results Group II showed better results for mean surface area. Conclusion: These results show that citric acid could be a better healing biomaterial in periodontal regeneration by increasing surface area.

Can the elite slalom kayaker's performance be correlated with anthropometric, nutritional, genetic, psychological as sleep traits?

Abstract AIMS The aims of this study were to investigate and characterize the anthropometric, nutritional, genetic, psychological and sleep variables of slalom kayakers, and to verify the correlation of these variables with the slalom kayakers' performance. METHODS Ten elite Brazilian team slalom kayakers participated of this study. Nutritional analysis was made by the Food Record (three days), 24 Hour Dietary Recall and Food Frequency Questionnaire. The ACE I/D, AGTMet235Thr, ACTN3R577X and BDKRB2+9/-9 were genotyped for genetic profile. The Profile of Mood States (POMS) and Sports Competition Anxiety Test (SCAT) were applied to investigate the psychological variables. The Pittsburgh Sleep Quality Index (PSQI), Epworth Sleep Scale (ESS) and Morningness-eveningness questionnaire (MEQ) were used for sleep traits analysis. Performance trials were performed on a white-water course with 24 gates, and finish time was considered as the variable related to performance. RESULTS Significant correlations were obtained between Performance Time Trial and %Fat (r=0.77), Energy (r=-0.75), Protein (r=-0.76), Carbohydrate (r=-0.72), Vitamin B6 (r=-0.87), Vitamin A (r=-0.82), Thiamine (r=-0.77), Riboflavin (r=-0.71), Magnesium (r=-0.86) and Phosphorus (r=-0.74) intake, besides the Fatigue mood domain (r=0.73) and the SCAT score (r=0.67). Athletes genotyped with the I, T, R and +9 alelle also presented better performances. CONCLUSIONSIn summary, the novel results provided by this study reinforce the necessity of considering several aspects during athlete development in order to achieve better performance in competitions.

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Lung cancer is strongly associated to tobacco smoking. However, global statistics estimate that in females the proportion of lung cancer cases that is unrelated to tobacco smoking reaches fifty percent, making questionable the etiology of the disease. MATERIALS AND METHODS: A never-smoker female with primary EGFR/KRAS/ALK-negative squamous cell carcinoma of the lung and their normal sibswere subjected to a novel integrative “omic” approach using a pedigree-based model for discovering genetic factors leading to cancer in the absence of well-known environmental trigger. A first-stepwhole-exome sequencing on tumor and normal tissue did not identify mutations in known driver genes. Building on the idea of a germline oligogenic origin of lung cancer, we performed whole-exome sequencing of DNA from patients' peripheral blood and their unaffected sibs. Finally, RNA-sequencing analysis in tumoral and matched non-tumoral tissues was carried out in order to investigate the clonal profile and the pathogenic role of the identified variants. RESULTS: Filtering for rare variants with Combined Annotation Dependent Depletion (CADD) > 25 and potentially damaging effect, we identified rare/private germline deleterious variants in 11 cancer-associated genes, none ofwhich, except one, sharedwith the healthy sib, pinpointing to a “private” oligogenic germline signature. Noteworthy, among these, two mutated genes, namely ACACA and DEPTOR, turned to be potential targets for therapy because related to known drivers, such as BRCA1 and EGFR. CONCLUSION: In the era of precision medicine, this report emphasizes the importance of an “omic” approach to uncover oligogenic germline signature underlying cancer development and to identify suitable therapeutic targets as well.

Marginal socio-economic effects of an employer's efforts to improve the work environment

BACKGROUND: Workplace health promotion (WHP) strongly requires the employer’s efforts to improve the psychosocial, ergonomic, and physical environments of the workplace. There are many studies discussing the socio-economic advantage of WHP intervention programmes and thus the internal and external factors motivating employers to implement and integrate such programmes. However, the socio-economic impacts of the employer’s multifactorial efforts to improve the work environment need to be adequately assessed. METHODS: Data were collected from Swedish company Sandvik Materials Technology (SMT) through a work environment survey in April 2014. Different regression equations were analysed to assess marginal effects of the employer’s efforts on overall labour effectiveness (OLE), informal work impairments (IWI), lost working hours (LWH), and labour productivity loss (LPL) in terms of money. RESULTS: The employer’s multifactorial efforts resulted in increasing OLE, decreasing IWI and illness-related LWH, and cost savings in terms of decreasing LPL. CONCLUSION: Environmental factors at the workplace are the important determinant factor for OLE, and the latter is where socio-economic impacts of the employer’s efforts primarily manifest.

Análisis de la causalidad en el estudio genético de los trastornos neuropsiquiátricos: revisión narrativa / Causal analysis in the genetic study of neuropsychiatric disorders: Narrative review / Análise da causalidade no estudo genético dos transtornos neuropsiquiátricos: revisão narrativa

Los trastornos neuropsiquiátricos se caracterizan por formas complejas de transmisión genética. El conocimiento de los aspectos básicos de los diseños metodológicos más usados en la investigación sobre la genética de estos trastornos permite al clínico una búsqueda más eficaz de la literatura disponible, así como una mejor lectura crítica y aplicación práctica de los artículos sobre esta área del conocimiento. Esta revisión tiene como objetivo describir los diseños estadísticos-epidemiológicos más utilizados en este ámbito e ilustrar dicha descripción con algunos ejemplos. En concreto, se revisan aspectos metodológicos generales sobre los estudios de gemelos, los estudios de adopción, análisis de pedigríes, estudios de asociación (casos y controles) y análisis de ligamiento genético.

Neuropsychiatric disorders are characterized by complex forms of genetic transmission. Knowledge of the basic aspects of the most commonly used methodological designs used in research on the genetics of these disorders allows the clinician to perform a more effective search of the literature available as well as a better critical reading and practical application of the articles in this field of knowledge. The objectives of this review are to describe the statistical-epidemiological designs that are most commonly used in this field and to illustrate this description with several examples. Specifically, we review the general methodological aspects of twin studies, adoption studies, pedigree analysis, association studies (case-control), and genetic linkage analysis.

Os transtornos neuropsiquiátricos se caracterizam por formas complexas de transmissão genética. O conhecimento dos aspectos básicos dos desenhos metodológicos mais usados na investigação sobre a genética destes transtornos permite ao clínico uma busca mais eficaz da literatura disponível, assim como uma melhora na leitura crítica e na aplicação prática dos artigos sobre esta área do conhecimento. Esta revisão tem como objetivo descrever os desenhos estatísticos-epidemiológicos mais utilizados neste âmbito e ilustrar dita descrição com alguns exemplos. Em concreto, se revisam aspectos metodológicos gerais sobre os estudos de gêmeos, os estudos de adoção, análise de pedigrees, estudos de associação (casos e controles) e análise de ligamento genético.

Agregación familiar en pacientes con hipertensión arterial / Family Aggregation in Patients with Arterial Hypertension

Introducción: actualmente, la hipertensión arterial es considerada como un trastorno poligénico y multifactorial, en el cual la interacción de múltiples genes entre sí y con el medio ambiente es importante. Objetivos: describir el comportamiento de la agregación familiar de la hipertensión arterial. Métodos: se realizó un estudio observacional, descriptivo, de corte transversal en el Policlínico Alex Urquiola en el periodo de enero a agosto de 2016. El universo de estudio estuvo constituido por los 54 pacientes y la muestra por 20, seleccionados a través de muestreo de tipo probabilístico aleatorio simple. Se les aplicó una encuesta estructurada y se realizó análisis informático de los resultados. Resultados: el grupo etario predominante fue el de 50 a 59 años (55 por ciento); mientras que el grupo menos representado fue el de 30 a 39 años (10 por ciento). En cuanto al grado de parentesco con los familiares hipertensos, predominaron los que tenían familiares de II grado (55 por ciento). El sedentarismo predominó como factor de riesgo. Conclusiones: se demostró agregación familiar para la hipertensión arterial en estas familias. Predominaron el grado de parentesco II y el factor de riesgo sedentarismo. Considerándose importante la prevención primaria en cada área de salud, para poder modificar factores de riesgo(AU)

Introduction: Hypertension is nowadays considered a polygenic and multifactorial disorder, in which the interaction of multiple genes with one other and with the environment is important. Objectives: To describe the behavior of family aggregation of arterial hypertension. Methods: An observational, descriptive, cross-sectional study was performed Alex Urquiola Polyclinic, from January to August 2016. The study universe consisted of 54 patients and the sample consisted of 20 patients, chosen by simple probabilistic randomization. They were given a structured survey, after which we carried out the computerized analysis of the results. Results: The predominant age group was 50-59 years (55 percent), while the least represented group corresponded to the ages 30-39 years (10 percent). As for the degree of kinship to hypertensive relatives, there was a predominance of those who had relatives of grade II (55 percent). The sedentary lifestyle predominated as a risk factor. Conclusions: Family aggregation for hypertension was proved in these families. The was a predominance of the second degree of relation and sedentary risk factors. We consider that primary prevention is important in each health area, for the modification of risk factors(AU)