Evaluation of Two Active System Encapsulant Matrices with Quercetin and Bacillus clausii for Functional Foods.

Currently, demand for functional foods is increasing in the public interest in order to improve life expectations and general health. Food matrices containing probiotic microorganisms and active compounds encapsulated into carrier agents are essential in this context. Encapsulation via the lyophilisation method is widely used because oxidation reactions that affect physicochemical and nutritional food properties are usually avoided. Encapsulated functional ingredients, such as quercetin and Bacillus clausii, using two carrier agents' matrices-I [inulin (IN), lactose (L) and maltodextrin (MX)] and II [arabic (A), guar (G), and xanthan (X) gums)]-are presented in this work. A D-optimal procedure involving 59 experiments was designed to evaluate each matrix's yield, viability, and antioxidant activity (AA). Matrix I (33.3 IN:33.3 L:33.3 MX) and matrix II (33.3 A:33.3 G:33.3 X) exhibited the best yield; viability of 9.7 log10 CFU/g and 9.73 log10 CFU/g was found in matrix I (using a ratio of 33.3 IN:33.3 L:33.3 MX) and matrix II (50 G:50 X), respectively. Results for the antioxidant capacity of matrix I (100 IN:0 L:0M X) and matrix II (0 A:50 G:50 X) were 58.75 and 55.54 (DPPH* scavenging activity (10 µg/mL)), respectively. Synergy between matrices I and II with use of 100IN:0L:OMX and 0A:50G:50X resulted in 55.4 log10 CFU/g viability values; the antioxidant capacity was 9. 52 (DPPH* scavenging activity (10 µg/mL). The present work proposes use of a carrier agent mixture to produce a functional ingredient with antioxidant and probiotic properties that exceed the minimum viability, 6.0 log10 CFU/g, recommended by the FAO/WHO (2002) to be probiotic, and that contributes to the recommended daily quercetin intake of 10-16 mg/day or inulin intake of 10-20 g/day and dietary fibre intake of 25-38 g per day.

Evaluation of a biocoagulant from devilfish invasive species for the removal of contaminants in ceramic industry wastewater.

This study evaluated the effectiveness of a biocoagulant produced from the devilfish invasive species and its combination with two chemical coagulants (aluminum sulfate and ferric sulfate) to remove turbidity, chemical oxygen demand, and total suspended solids in ceramic industry wastewater using a combined experimental design of Mixture-Process. This design optimized the coagulation process and evaluated the effects and interactions between mixture components and coagulant doses. An analysis of variance was used to analyze the experimental data obtained in the study, and the response surface plots by response type (turbidity, chemical oxygen demand, and total suspended solids) were obtained. Results showed that the coagulation treatment could be technically and economically feasible since efficiencies of turbidity, chemical oxygen demand, and total suspended solids removal of 74, 79, and 94% could be achieved using an optimal coagulant dose of 800 mg/L with a mixture of 35% biocoagulant and 65% ferric sulfate. Analysis of variance results showed that the models are significant, and the lack of fit is not required according to the probability value (p value), which were < 0.0001, and > 0.05, respectively. Hence, the experimental data were fitted to a combined reduced special cubic x linear model. These results support the use of devilfish meal as a biocoagulant, being more feasible in dual systems when mixed with ferric sulfate.

Lippia graveolens HBK oleoresins, extracted by supercritical fluids, showed bactericidal activity against multidrug resistance Enterococcus faecalis and Staphylococcus aureus strains.

OBJECTIVE: The aim of this work was to characterize Lippia graveolens oleoresins, obtained by Supercritical Fluid Extraction (SFE), from crops collected at different locations in Mexico. The antimicrobial effect of oleoresins was tested in reference strains and clinical isolates of susceptible and multidrug-resistant (MDR) strains of Enterococcus faecalis and Staphylococcus aureus. SIGNIFICANCE: The increasing of MDR strains is becoming a global public health problem that has led to the search for new treatments, and essential oils have resurged as a source of compounds with bactericidal functions. Oregano essential oil has attracted attention recently, however, this oil is mainly obtained by hydro-distillation (uses large amounts of water) or solvents extraction (potential contaminant). SFE has gained popularity as it represents an environmentally friendly technology. METHODS: L. graveolens oleoresins were obtained by SFE, total phenol contents were quantified by Folin-Ciocalteu method, the identification of compounds and thymol and carvacrol quantification was carried out by GC-MS. The antimicrobial activity was tested by minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC). RESULTS: SFE showed higher yields compared with the hydro-distillation process. L. graveolens grown in different Mexican locations showed differences in oleoresin composition and a slightly different antimicrobial capacity against clinical isolates. CONCLUSIONS: It was demonstrated that SFE is an efficient technology for extracting L. graveolens oleoresins. Additionally, the solvent-free extraction method and the observed antimicrobial effect increase the applications of these oleoresins in fields, such as cosmetics, food industry, medicine, amongst others.

Reporte de familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud / Report of families with Steinert´s Myotonic Dystrophy surveyed in Primary Health Care

RESUMEN Introducción: la distrofia miotónica de Steinert. Es una enfermedad heredo familiar con patrón de transmisión autosómico dominante. Objetivo: describir familias con distrofia miotónica de Steinert pesquisadas en la Atención Primaria de Salud. Presentación de familias: se trata de una muestra de 126 miembros pertenecientes a dos familias, residentes en la provincia Pinar del Río, Cuba, en la que varios de sus miembros tenían diagnosticada la enfermedad. Se realizó un pesquisaje durante el año 2019, y entre enero y marzo del 2020, a cada miembro de ambas familias, se les completó las genealogías y evaluaron las características clínicas. Se trabajó con algunas variables relacionadas con las formas clínicas de la enfermedad según las generaciones. Resultados: se presentaron mediante el árbol genealógico dos familias, con 40 y 86 miembros, de los municipios de Minas de Matahambre y Pinar del Río respectivamente. En el primer municipio se registraron nueve personas con la forma leve y clásica de la enfermedad, de estas más de la mitad no conocían su condición, 21 personas eran aparentemente sintomáticas. En el segundo municipio, 21 casos fueron evaluados con alguna forma clínica de la enfermedad, que con respecto al total de casos pesquisados representaron el 26,5 %. Conclusiones: es esencial la pesquisa a las familias con distrofia miotónica de Steinert, ya que existe una disociación de los signos clínicos y expresión variable de la enfermedad. Es la Atención Primaria de Salud el escenario que permite el diagnóstico precoz y manejo multidisciplinario.

ABSTRACT Introduction: the dystrophy miotónica of Steinert. It is an illness I inherit family with pattern of transmission dominant autosómico. Objective: to describe families with Steinert´s Myotonic Dystrophy, surveyed in Primary Health Care. Report of families: it is about a sample of 126 members belonging to two families, in which several of their members had been diagnosed with the entity; both families are from Pinar del Río province, Cuba. A survey was conducted during 2019, and between January and March 2020, each member of both families had their genealogies completed and their clinical characteristics evaluated; working with some variables related to the clinical types of this entity according to the generations. Results: two families were presented through the genealogical tree, with 40 and 86 members from the municipalities of Minas de Matahambre and Pinar del Río municipalities respectively. In the first municipality, nine persons (9) were registered with the mild and classic type of the disease, of these more than 50 % did not know their condition, and 21 persons were apparently symptomatic. In the second municipality, 21 cases were evaluated some clinical characteristics of the disease, which with respect to the total number of cases surveyed represented 26,5 %. Conclusions: it is essential to study families with Steinert's Myotonic Dystrophy, since there is a dissociation of clinical signs and variable expression of the disease. It is the Primary Health Care the setting which allows early diagnosis and multidisciplinary management of this disease.

The Influence of Maltodextrin on the Thermal Transitions and State Diagrams of Fruit Juice Model Systems.

The state diagram, which is defined as a stability map of different states and phases of a food as a function of the solid content and temperature, is regarded as fundamental approach in the design and optimization of processes or storage procedures of food in the low-, intermediate-, and high-moisture domains. Therefore, in this study, the effects of maltodextrin addition on the freezing points (Tm', Tm) and glass transition temperatures (Tg', Tg) required for the construction of state diagrams of fruit juice model systems by using differential scanning calorimetry methods was investigated. A D-optimal experimental design was used to prepare a total of 25 anhydrous model food systems at various dry mass fractions of fructose, glucose, sucrose, pectin, citric acid, and maltodextrin, in which this last component varied between 0 and 0.8. It was found that maltodextrin mass fractions higher than 0.4 are required to induce significant increases of Tg', Tm', Tg, and Tm curves. From this perspective, maltodextrin is a good alternative as a cryoprotectant and as a carrier agent in the food industry. Furthermore, solute-composition-based mathematical models were developed to evaluate the influence of the chemical composition on the thermal transitions and to predict the state diagrams of fruit juices at different maltodextrin mass fractions.

Synthesis and characterization of hydrochar from industrial Capsicum annuum seeds and its application for the adsorptive removal of methylene blue from water.

Chili seeds (CS) represent one of the most abundant residues in Mexico due to the high production and consumption. In this work, CS were used as raw material for the production of low-cost adsorbents for the removal of methylene blue from water. The adsorbents were synthesized from a hydrothermal treatment (based on a surface response experiment design) and characterized texturally by assessing changes in their properties. The mass yield (%R), carbon content (%C), and the second order adsorption rate constant (k2) were derived in relation to a list of input variables (e.g., the reaction temperature, residence time, and water/biomass ratio). Accordingly, those output variables were affected most sensitively by temperature and/or residence time, while changes of the water/biomass ratio were insignificant. Besides, an increase in the reaction temperature favored the degradation of the lignocellulosic material with increases in the carbon fixation. The adsorption capacity of methylene blue (MB) by the hydrochars depended drastically on the oxygen/carbon ratio. As such, the maximum adsorption capacity value of 145 mg g-1 was attained at the initial MB concentration of ~3000 µM (optimal oxygen/carbon value of 0.43). On the other hand, the maximum partition coefficient (KD) was estimated as 2.96 µM-1 mg g-1 with the initial/equilibrium concentrations of 20.5/6.93 µM. The performance evaluation between different studies, when made in terms of KD, suggests that the tested hydrochar should be one of the best adsorbents to treat methylene blue, especially at near-real environmental conditions (e.g., below micromolar levels).

Altered behavior of adult obese rats by monosodium l-glutamate neonatal treatment is related to hypercorticosteronemia and activation of hypothalamic ERK1 and ERK2.

OBJECTIVES: Obesity is a metabolic and hormonal disorder with serious social and psychological impacts. There is a close relationship among obesity, neuroendocrine homeostasis and behavioral patterns. However, few data are available in the literature regarding this subject. This study assessed behavior and memory of adult obese rats by monosodium l-glutamate (MSG) neonatal treatment or highly palatable dietary treatment. METHODS: MSG obesity was induced by subcutaneous injections of MSG (4 mg/g) during the first 5 days of life (Ob-MSG); control group (C-MSG), received saline solution equimolar. Both groups were fed with commercial chow. To induce dietary obesity, 21-day-old rats were assigned to two experimental diets: highly palatable diet (Ob-Diet) and control diet (C-Diet) composed of commercial chow. Ninety-day-old animals were submitted to behavioral assessment by the open-field test and short- and long-term memory by the object recognition test. Biometric variables were obtained, the Lee index was calculated and mass of retroperitoneal and perigonadal fat pads was measured. Furthermore, an altered behavioral profile was investigated by quantification of plasmatic corticosterone, expression, and activity of hypothalamic extracellular signal-regulated kinase protein (ERK) 1 and 2. RESULTS: Increased Lee index and fat pads were observed in Ob-MSG and Ob-Diet groups. Ob-MSG presented a higher level of anxiety and impaired long-term memory compared to C-MSG, while there was no difference between Ob-Diet and C-Diet. The Ob-MSG group presented a higher level of plasmatic corticosterone and increased phosphorylation of hypothalamic ERK1 and 2. DISCUSSION: Both treatments induced obesity but only Ob-MSG showed altered behavioral parameters, which is related to increased concentration of corticosterone and hypothalamic ERK1 and 2 activation.

Riesgo preconcepcional genético / Genetic precenceptional risk

La red nacional de genética enfoca sus prioridades de trabajo en la evaluación de las mujeres en edad fértil para su clasificación, y por tanto, determinar la existencia de riesgo genético tanto preconcepcional como prenatal en las embarazadas. El objetivo es caracterizar epidemiológicamente a la población femenina en edad fértil del municipio Minas de Matahambre con riesgo preconcepcional de causa genética y así sentar las bases para su mejor manejo y control. Se realizó un estudio descriptivo de corte transversal en las mujeres en edad fértil con riesgo genético preconcepcional del municipio Minas de Matahambre durante el año 2012, los datos obtenidos en la consulta del servicio municipal de genética permitieron analizar las características epidemiológicas, los resultados se presentan en tablas y figuras. El 18,9 por ciento de la población femenina en edad fértil presenta algún riesgo genético, predomina el riesgo de afecciones maternas hereditarias con el 40,5 por ciento y dentro de estas el 60,9 por ciento se debe a la discapacidad intelectual de causa prenatal genético, el riesgo de cromosomopatías representa el 36,4 por ciento destacándose el 74,2 por ciento de edad materna avanzada, de las mujeres con riesgo genético la mayoría se protege con dispositivos intrauterinos y el 52,0 por ciento muestran un nivel inadecuado de conocimiento sobre su riesgo. Con el presente trabajo se demuestra las características epidemiológicas de la población femenina en edad fértil con riesgo preconcepcioanal genético del municipio, lo que permite sentar las bases para su mejor manejo y control(AU)

The national genetics network focus it work priorities in the evaluation of fertile-aged women for their classification, and thus determining the existence of both preconceptional and prenatal genetic risk in the pregnant women. The objective was to tocharacterize the epidemiology of the female population in fertile age from Minas de Matahambre Municipality and with preconceptional risk of genetic cause and thus set foundations for better managing and controlling them. A descriptive cross-sectional study was carried out in fertile-aged women with preconceptional genetic risk from Minas de Matahambre Municipality during the year 2012. The data obtained in the Municipal Genetics Service Department permitted to analyze the epidemiologic characteristics. The 18.9 per cent of the female population in fertile age present any genetic risk. The risk of hereditary maternal affection predominates with a 40.5 per cent and within these the 60.9 per cent is due to the intellectual disability of prenatal genetic cause, while the risk of chromosome pathologies represents the 36.4 per cent, with the 74.2 per cent in advanced maternal age. Among the women with genetic risk, most of them protect themselves with intra-uterine contraceptives and the 52.0 per cent of them show inadequate level of knowledge about their risk.With this research we showed the epidemiologic characteristics of the female population in fertile age with genetic preconceptional risk from the Municipality, so that it permits setting foundations for better managing and controlling them.(AU)

Riesgo preconcepcional genético / Genetic precenceptional risk

Introducción: la red nacional de genética enfoca sus prioridades de trabajo en la evaluación de las mujeres en edad fértil para su clasificación, y por tanto, determinar la existencia de riesgo genético tanto preconcepcional como prenatal en las embarazadas. Objetivo: caracterizar epidemiológicamente a la población femenina en edad fértil del municipio Minas de Matahambre con riesgo preconcepcional de causa genética y así sentar las bases para su mejor manejo y control. Material y método: se realizó un estudio descriptivo de corte transversal en las mujeres en edad fértil con riesgo genético preconcepcional del municipio Minas de Matahambre durante el año 2012, los datos obtenidos en la consulta del servicio municipal de genética permitieron analizar las características epidemiológicas, los resultados se presentan en tablas y figuras. Resultados: el 18,9% de la población femenina en edad fértil presenta algún riesgo genético, predomina el riesgo de afecciones maternas hereditarias con el 40,5% y dentro de estas el 60,9% se debe a la discapacidad intelectual de causa prenatal genético, el riesgo de cromosomopatías representa el 36,4% destacándose el 74,2% de edad materna avanzada, de las mujeres con riesgo genético la mayoría se protege con dispositivos intrauterinos y el 52,0% muestran un nivel inadecuado de conocimiento sobre su riesgo. Conclusiones: con el presente trabajose demuestra las caracter ísticas epidemiológicas de la población femenina en edad fértil con riesgo preconcepcioanal genético del municipio, lo que permite sentar las bases para su mejor manejo y control.

Introduction: the national genetics network focus it work priorities in the evaluation of fertile-aged women for their classification, and thus determining the existence of both preconceptional and prenatal genetic risk in the pregnant women. Objective: to characterize the epidemiology of the female population in fertile age from Minas de Matahambre Municipality and with preconceptional risk of genetic cause and thus set foundations for better managing and controlling them. Material and method: a descriptive cross-sectional study was carried out in fertile-aged women with preconceptional genetic risk from Minas de Matahambre Municipality during the year 2012. The data obtained in the Municipal Genetics Service Department permitted to analyze the epidemiologic characteristics. Results: the 18.9% of the female population in fertile age present any genetic risk. The risk of hereditary maternal affection predominates with a 40.5% and within these the 60.9% is due to the intellectual disability of prenatal genetic cause, while the risk of chromosome pathologies represents the 36.4%, with the 74.2% in advanced maternal age. Among the women with genetic risk, most of them protect themselves with intra-uterine contraceptives and the 52.0% of them show inadequate level of knowledge about their risk. Conclusions: with this research we showed the epidemiologic characteristics of the female population in fertile age with genetic preconceptional risk from the Municipality, so that it permits setting foundations for better managing and controlling them.

La discapacidad intelectual en Minas de Matahambre, una caracterización clínico-epidemiológica / Intellectual disability in Minas de Matahambre, clinical and epidemiologic characteristics

La discapacidad intelectual está caracterizada por la presencia de un coeficiente intelectual menor a 70, se manifiesta antes de los 18 años de edad, puede estar asociada a limitaciones físico-motoras y sensoriales así como a trastornos conductuales y su etiología responde a factores genéticos o ambientales. El objetivo fue describir las características clínico-epidemiológicas de la discapacidad intelectual en el municipio, después de 9 años de realizado el Estudio Psicosocial y Clínico Genético del 2003. Se realizó un estudio descriptivo transversal de los individuos con discapacidad intelectual del municipio Minas de Matahambre en el año 2012, que incluyó 561 individuos afectados, a los que se les aplicó el instrumento elaborado por especialistas del Centro Nacional de Genética Médica de Cuba con previo consentimiento informado, evaluándose variables como: edad, sexo, factores causales y el grado de afectación de la capacidad intelectual. El municipio muestra una tasa de prevalencia de 1,57 por cada 100 habitantes. El mayor por ciento se concentra en el grupo de 30 a 59 años de edad, el sexo predominante es el masculino, la discapacidad intelectual ligera ocupa el 55,9 por ciento y como causa son significativos los eventos prenatales. Se describen las características clínico-epidemiológicas de la discapacidad intelectual en el municipio, lo que posibilita proponer nuevas investigaciones sobre factores relacionados con su origen y prevención y mantener la comunicación necesaria de los implicados en el diagnóstico y atención de las personas con discapacidad intelectual(AU)

Intellectual disability is characterized by an IQ lower than 70, manifested before age 18, and may be associated with physical, motor and sensory disabilities, as well as to behavioral disorders. Its etiology responds to genetic or environmental factors. The objective was to describe the clinical and epidemiological characteristics of intellectual disability in the municipality, 9 years after completing the 2003 Psychosocial and Clinical Genetic Study. A descriptive cross-sectional study was performed of individuals with intellectual disabilities in the municipality of Minas Matahambre in 2012, which included 561 affected individuals, who were administered the instrument developed by specialists of the National Centre for Medical Genetics, prior informed consent, evaluating variables such as age, sex, causal factors and the degree of impact of intellectual ability. The municipality shows a prevalence rate of 1.57 per 100 inhabitants. The highest percentage is concentrated in the group of 30 to 59 years old, male is the predominant sex, light intellectual disability occupies 55.9 per cent, and prenatal events are a significant cause. Clinical and epidemiological intellectual disabilities characteristics in the municipality are described, allowing to propose further research on factors related to its origin and prevention and to maintain the necessary communication of those involved in the diagnosis and care of people with intellectual disabilities.

La discapacidad intelectual en Minas de Matahambre, una caracterización clínico-epidemiológica / Intellectual disability in Minas de Matahambre, clinical and epidemiologic characteristics

Introducción: la discapacidad intelectual está caracterizada por la presencia de un coeficiente intelectual menor a 70, se manifiesta antes de los 18 años de edad, puede estar asociada a limitaciones físico-motoras y sensoriales así como a trastornos conductuales y su etiología responde a factores genéticos o ambientales. Objetivo: describir las características clínico-epidemiológicas de la discapacidad intelectual en el municipio, después de 9 años de realizado el Estudio Psicosocial y Clínico Genético del 2003. Material y Métodos: se realizó un estudio descriptivo transversal de los individuos con discapacidad intelectual del municipio Minas de Matahambre en el año 2012, que incluyó 561 individuos afectados, a los que se les aplicó el instrumento elaborado por especialistas del Centro Nacional de Genética Médica de Cuba con previo consentimiento informado, evaluándose variables como: edad, sexo, factores causales y el grado de afectación de la capacidad intelectual. Resultados: El municipio muestra una tasa de prevalencia de 1,57 por cada 100 habitantes. El mayor por ciento se concentra en el grupo de 30 a 59 años de edad, el sexo predominante es el masculino, la discapacidad intelectual ligera ocupa el 55,9 % y como causa son significativos los eventos prenatales. Conclusiones: Se describen las características clínico-epidemiológicas de la discapacidad intelectual en el municipio, lo que posibilita proponer nuevas investigaciones sobre factores relacionados con su origen y prevención y mantener la comunicación necesaria de los implicados en el diagnóstico y atención de las personas con discapacidad intelectual.

Introduction: intellectual disability is characterized by an IQ lower than 70, manifested before age 18, and may be associated with physical, motor and sensory disabilities, as well as to behavioral disorders. Its etiology responds to genetic or environmental factors. Objective: to describe the clinical and epidemiological characteristics of intellectual disability in the municipality, 9 years after completing the 2003 Psychosocial and Clinical Genetic Study. Material and methods: a descriptive cross-sectional study was performed of individuals with intellectual disabilities in the municipality of Minas Matahambre in 2012, which included 561 affected individuals, who were administered the instrument developed by specialists of the National Centre for Medical Genetics, prior informed consent, evaluating variables such as age, sex, causal factors and the degree of impact of intellectual ability. Results: the municipality shows a prevalence rate of 1.57 per 100 inhabitants. The highest percentage is concentrated in the group of 30 to 59 years old, male is the predominant sex, light intellectual disability occupies 55.9%, and prenatal events are a significant cause. Conclusions: clinical and epidemiological intellectual disabilities characteristics in the municipality are described, allowing to propose further research on factors related to its origin and prevention and to maintain the necessary communication of those involved in the diagnosis and care of people with intellectual disabilities.

Programa de detección de errores innatos del metabolismo, Minas de Matahambre 2008-2012 / Program of detection of innate errors of metabolism, Minas de Matahambre 2008-2012

Los errores innatos del metabolismo son un grupo muy heterogéneo de enfermedades congénitas, determinadas por el bloqueo de un paso metabólico debido a la mutación de genes responsables del funcionamiento del mismo. Con herencia autosómico recesiva y en algunos casos ligada al cromosoma X, su diagnóstico precoz y el uso correcto de todas las opciones terapéuticas posibles es fundamental para asegurar la supervivencia y la mejor calidad de vida posible de los individuos afectados. El objetivo fue describir los resultados del programa de detección de errores innatos del metabolismo durante cinco años en el municipio Minas de Matahambre. Se realizó un estudio descriptivo y retrospectivo en el municipio de Minas de Matahambre del 2008 al 2012, al total de recién nacidos estudiados mediante el tamizaje neonatal. Se estudiaron un total de 1822 recién nacidos, alcanzando una cobertura del 99,3 por ciento. Existe mayor número de primeras determinaciones de: galactosa y 17 hidroxiprogesterona, no se han detectado casos confirmados de enfermos de hiperplasia adrenal congénita, fenilcetonuria, galactosemia, déficit de biotinidasa e hipotiroidismo congénito. Con el presente trabajose describen los resultados del programa de detecci ón de errores innatos del metabolismo en el municipio, lo que permite el diagnóstico preciso, el correcto tratamiento médico y un adecuado asesoramiento genético a la familia(AU)

Innate errors of metabolism are a very heterogeneous group of congenital diseases, determined by the blocking a metabolic passing due to mutation of genes responsible for the operation. Autosomal recessive inheritance and in some cases X-linked, early diagnosis and proper use of all possible treatment options is critical to assure the survival and the best possible quality of life of affected individuals. The objective was to describe the results of the screening program of innate errors of metabolism for five years in the town of Minas de Matahambre. A retrospective descriptive study was conducted in the town of Minas de Matahambre from 2008 to 2012; the total number of infants were studied by neonatal screening. A total of 1822 infants were studied, reaching coverage of 99.3 per cent. There is a greater number of first determinations: galactose and 17 hydroxyprogesterone were not detected in patients with confirmed congenital adrenal hyperplasia, phenylketonuria, galactosemia, biotinidase deficiency and congenital hypothyroidism cases. The present work program results in detection of innate errors of metabolism in the town as being described, allowing accurate diagnosis, proper medical treatment and appropriate genetic counseling for the family(AU)

El síndrome de hiperlaxitud articular, un enfoque clínico epidemiológico en Minas de Matahambre / oint hypermobility syndrome, a clinical-epidemiological approach in Minas de Matahambre

El síndrome de hiperlaxitud articular, descrito por Rotés-Querol en 1957, se caracteriza por la presencia de hiperlaxitud articular y síntomas relacionados con el aparato locomotor. Su diagnóstico es clínico, basado en las maniobras exploratorias descritas en el Score de Beighton, y no existe tratamiento específico. El objetivo fue analizar el comportamiento de las características clínico-epidemiológicas del síndrome de hiperlaxitud articular en la población de Minas de Matahambre. Se realizó un estudio descriptivo y retrospectivo desde enero del 2011 a enero del 2013, al total de pacientes remitidos a la consulta de genética comunitaria por presentar hiperlaxitud articular acompañado de otra sintomatología, determinándose el comportamiento de las principales características clínico-epidemiológicas de la enfermedad. Predomina el sexo femenino y la raza blanca, se presenta en el grupo de 3 a 8 años en el 55,3 por ciento, siendo significativos los casos de zonas rurales, el diagnóstico decrece con la edad, el 78,9 por ciento presenta algún familiar de primer orden afectado, y predomina como factores de riesgo el bajo consumo prenatal de ácido fólico, la malnutrición materna y el bajo peso al nacer. Se determinan las características clínico-epidemiológicas del síndrome de hiperlaxitud articular, buscando extenderlas a los profesionales de salud y aumentar así sus conocimientos sobre dismorfologia para la remisión oportuna de casos de hiperlaxitud articular asociados a enfermedades genéticas, y por tanto implementar estrategias de intervención comunitaria en familias identificadas para la detección precoz, y así disminuir las complicaciones(AU)

Joint hypermobility syndrome, described by Rotés-Querol in 1957, is characterized by the presence of joint hypermobility and symptoms related to the musculoskeletal system. The diagnosis is clinical, based on exploratory maneuvers specified in Beighton Score, and with no specific treatment. The objective was to analyze the behavior of the clinical and epidemiological features of joint hypermobility syndrome in the population of Minas de Matahambre. A retrospective descriptive study was conducted from January 2011 to January 2013; the total number of patients was referred to consultation with the community genetics for hypermobility together with other symptoms, determining the behavior of the main clinical and epidemiological characteristics of the disease. Predominantly female and white presented in the group of 3-8 years as the 55.3 per cent, with significant rural cases, diagnosis decreases with age, 78.9 per cent have some affected first-order relation and risk factors predominate as low prenatal folic acid intake, maternal malnutrition and low birth weight. The clinical and epidemiological characteristics of joint hypermobility syndrome are determined, seeking to extend health professionals and increase their knowledge of dysmorphology for timely referral of hypermobility associated with genetic diseases, and therefore to implement intervention strategies in the families identified for early detection and thus to reduce complications(AU)

El síndrome de hiperlaxitud articular, un enfoque clínico epidemiológico en Minas de Matahambre / Joint hypermobility syndrome, a clinical-epidemiological approach in Minas de Matahambre

Introducción: el síndrome de hiperlaxitud articular, descrito por Rotés-Querol en 1957, se caracteriza por la presencia de hiperlaxitud articular y síntomas relacionados con el aparato locomotor. Su diagnóstico es clínico, basado en las maniobras exploratorias descritas en el Score de Beighton, y no existe tratamiento específico. Objetivo: analizar el comportamiento de las características clínico-epidemiológicas del síndrome de hiperlaxitud articular en la población de Minas de Matahambre. Material y Métodos: se realizó un estudio descriptivo y retrospectivo desde enero del 2011 a enero del 2013, al total de pacientes remitidos a la consulta de genética comunitaria por presentar hiperlaxitud articular acompañado de otra sintomatología, determinándose el comportamiento de las principales características clínico-epidemiológicas de la enfermedad. Resultados: predomina el sexo femenino y la raza blanca, se presenta en el grupo de 3 a 8 años en el 55,3 %, siendo significativos los casos de zonas rurales, el diagnóstico decrece con la edad, el 78,9% presenta algún familiar de primer orden afectado, y predomina como factores de riesgo el bajo consumo prenatal de ácido fólico, la malnutrición materna y el bajo peso al nacer. Conclusiones: se determinan las características clínico-epidemiológicas del síndrome de hiperlaxitud articular, buscando extenderlas a los profesionales de salud y aumentar así sus conocimientos sobre dismorfologia para la remisión oportuna de casos de hiperlaxitud articular asociados a enfermedades genéticas, y por tanto implementar estrategias de intervención comunitaria en familias identificadas para la detección precoz, y así disminuir las complicaciones.

Introduction: joint hypermobility syndrome, described by Rotés-Querol in 1957, is characterized by the presence of joint hypermobility and symptoms related to the musculoskeletal system. The diagnosis is clinical, based on exploratory maneuvers specified in Beighton Score, and with no specific treatment. Objective: to analyze the behavior of the clinical and epidemiological features of joint hypermobility syndrome in the population of Minas de Matahambre. Material and Methods: a retrospective descriptive study was conducted from January 2011 to January 2013; the total number of patients was referred to consultation with the community genetics for hypermobility together with other symptoms, determining the behavior of the main clinical and epidemiological characteristics of the disease. Results: predominantly female and white presented in the group of 3-8 years as the 55.3 %, with significant rural cases, diagnosis decreases with age, 78.9 % have some affected first-order relation and risk factors predominate as low prenatal folic acid intake, maternal malnutrition and low birth weight. Conclusions: the clinical and epidemiological characteristics of joint hypermobility syndrome are determined, seeking to extend health professionals and increase their knowledge of dysmorphology for timely referral of hypermobility associated with genetic diseases, and therefore to implement intervention strategies in the families identified for early detection and thus to reduce complications.

Programa de detección de errores innatos del metabolismo, Minas de Matahambre 2008-2012 / Program of detection of innate errors of metabolism, Minas de Matahambre 2008-2012

Introducción: los errores innatos del metabolismo son un grupo muy heterogéneo de enfermedades congénitas, determinadas por el bloqueo de un paso metabólico debido a la mutación de genes responsables del funcionamiento del mismo. Con herencia autosómico recesiva y en algunos casos ligada al cromosoma X, su diagnóstico precoz y el uso correcto de todas las opciones terapéuticas posibles es fundamental para asegurar la supervivencia y la mejor calidad de vida posible de los individuos afectados. Objetivo: describir los resultados del programa de detección de errores innatos del metabolismo durante cinco años en el municipio Minas de Matahambre. Material y Métodos: se realizó un estudio descriptivo y retrospectivo en el municipio de Minas de Matahambre del 2008 al 2012, al total de recién nacidos estudiados mediante el tamizaje neonatal. Resultados: se estudiaron un total de 1822 recién nacidos, alcanzando una cobertura del 99,3 %. Existe mayor número de primeras determinaciones de: galactosa y 17 hidroxiprogesterona, no se han detectado casos confirmados de enfermos de hiperplasia adrenal congénita, fenilcetonuria, galactosemia, déficit de biotinidasa e hipotiroidismo congénito. Conclusiones: con el presente trabajose describen los resultados del programa de detecci ón de errores innatos del metabolismo en el municipio, lo que permite el diagnóstico preciso, el correcto tratamiento médico y un adecuado asesoramiento genético a la familia.

Introduction: innate errors of metabolism are a very heterogeneous group of congenital diseases, determined by the blocking a metabolic passing due to mutation of genes responsible for the operation. Autosomal recessive inheritance and in some cases X-linked, early diagnosis and proper use of all possible treatment options is critical to assure the survival and the best possible quality of life of affected individuals. Objective: to describe the results of the screening program of innate errors of metabolism for five years in the town of Minas de Matahambre. Material and Methods: a retrospective descriptive study was conducted in the town of Minas de Matahambre from 2008 to 2012; the total number of infants were studied by neonatal screening. Results: a total of 1822 infants were studied, reaching coverage of 99.3%. There is a greater number of first determinations: galactose and 17 hydroxyprogesterone were not detected in patients with confirmed congenital adrenal hyperplasia, phenylketonuria, galactosemia, biotinidase deficiency and congenital hypothyroidism cases. Conclusions: the present work program results in detection of innate errors of metabolism in the town as being described, allowing accurate diagnosis, proper medical treatment and appropriate genetic counseling for the family.

Resultados del programa de prevención de hemoglobinopatías SS y SC / Results of the program to prevent hemoglobinopathies SS and SC

Las hemoglobinopatías, y dentro de ellas la sicklemia, constituyen las alteraciones monogénicas más frecuentes en el mundo, con un patrón de herencia autosómica recesiva; es alta su frecuencia en la población mundial. El Programa de Prevención de hemoglobinopatías se basa en el pesquisaje mediante el estudio de electroforesis de Hemoglobina a todas las gestantes. El objetivo fue analizar los resultados del programa de prevención de hemoglobinopatías en las áreas de salud del municipio Minas de Matahambre. Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal al total de gestantes captadas desde el año 2005 al 2012 a las que se les realizó la electroforesis de hemoglobina, determinándose portadoras de alguna hemoglobina anormal, a estos casos se estudió la pareja, los resultados se presentaron mediante tablas y gráficos. La frecuencia de portadoras de hemoglobina S fue de 1,47 por ciento presentando mayor número el área de salud de Minas 2,1 por ciento, seguida de Santa Lucia y Sumidero con 1,3 por ciento y 0.8 por ciento respectivamente. La frecuencia de portadoras de hemoglobina C fue de 0,11 por ciento, el 95,3 por ciento de los esposos fueron estudiados y solo existió una pareja de riesgo a la cual se le propuso estudio molecular fetal. Se determinó la frecuencia de hemoglobina AS y AC en las gestantes, lo que posibilitará brindarles asesoramiento genético y estudio molecular fetal a las parejas de riesgo además se corroboró la necesidad de mejorar la educación de la población sobre la enfermedad(AU)

Hemoglobinopathies, among them sickle cell anemia, constitute the most frequent monogenic alterations all over the world, having an autosomal recessive inheritance pattern; showing a high frequency in worldwide population. The Program for the Prevention of Hemoglobinopathies is based on hemoglobin electrophoresis to all pregnant women.The objective was to examine the results of the Program for the Prevention of Hemoglobinopathies in the health areas of Minas de Matahambre municipality. A descriptive, retrospective and longitudinal study was carried out to the total of pregnant women recruited from 2005 to 2012, performing hemoglobin electrophoresis, determining the carriers of some abnormal hemoglobin, investigating the couple and these results were presented in tables and graphics. The frequency of hemoglobin SS carriers was 1, 47 per cent where the greatest number belonged to Minas health area 2,1 per cent, followed by Santa Lucia and Sumidero with 1,3 per cent and 0.8 per cent respectively. The frequency of hemoglobin C carriers was 0, 11 per cent and 95,3 per cent of the husbands were studied, only a couple carried the risk, to whom fetal molecular assessment was proposed. The frequency of hemoglobin AS and AC in pregnant women was determined, which will make possible to offer them genetic counseling and fetal molecular assessment to the couples at risk; besides it corroborated the need of improving the education of the population about the disease(AU)

Resultados del programa de prevención de hemoglobinopatías SS y SC / Results of the program to prevent hemoglobinopathies SS and SC

Introducción: las hemoglobinopatías, y dentro de ellas la sicklemia, constituyen las alteraciones monogénicas más frecuentes en el mundo, con un patrón de herencia autosómica recesiva; es alta su frecuencia en la población mundial. El Programa de Prevención de hemoglobinopatías se basa en el pesquisaje mediante el estudio de electroforesis de Hemoglobina a todas las gestantes. Objetivo: analizar los resultados del programa de prevención de hemoglobinopatías en las áreas de salud del municipio Minas de Matahambre. Material y método: se realizó un estudio descriptivo, retrospectivo y de corte longitudinal al total de gestantes captadas desde el año 2005 al 2012 a las que se les realizó la electroforesis de hemoglobina, determinándose portadoras de alguna hemoglobina anormal, a estos casos se estudió la pareja, los resultados se presentaron mediante tablas y gráficos. Resultados: la frecuencia de portadoras de hemoglobina S fue de 1,47 % presentando mayor número el área de salud de Minas 2,1 %, seguida de Santa Lucia y Sumidero con 1,3 % y 0.8 % respectivamente. La frecuencia de portadoras de hemoglobina C fue de 0,11 %, el 95,3 % de los esposos fueron estudiados y solo existió una pareja de riesgo a la cual se le propuso estudio molecular fetal. Conclusiones: se determinó la frecuencia de hemoglobina AS y AC en las gestantes, lo que posibilitará brindarles asesoramiento genético y estudio molecular fetal a las parejas de riesgo además se corroboró la necesidad de mejorar la educación de la población sobre la enfermedad.

Introduction: hemoglobinopathies, among them sickle cell anemia, constitute the most frequent monogenic alterations all over the world, having an autosomal recessive inheritance pattern; showing a high frequency in worldwide population. The Program for the Prevention of Hemoglobinopathies is based on hemoglobin electrophoresis to all pregnant women. Objective: to examine the results of the Program for the Prevention of Hemoglobinopathies in the health areas of Minas de Matahambre municipality. Material and method: a descriptive, retrospective and longitudinal study was carried out to the total of pregnant women recruited from 2005 to 2012, performing hemoglobin electrophoresis, determining the carriers of some abnormal hemoglobin, investigating the couple and these results were presented in tables and graphics. Results: the frequency of hemoglobin SS carriers was 1, 47% where the greatest number belonged to Minas health area 2,1%, followed by Santa Lucia and Sumidero with 1,3% and 0.8% respectively. The frequency of hemoglobin C carriers was 0, 11% and 95,3% of the husbands were studied, only a couple carried the risk, to whom fetal molecular assessment was proposed. Conclusions: the frequency of hemoglobin AS and AC in pregnant women was determined, which will make possible to offer them genetic counseling and fetal molecular assessment to the couples at risk; besides it corroborated the need of improving the education of the population about the disease.

Programa de Diagnóstico Prenatal Citogenético mediante la amniocentesis en Minas de Matahambre / Prenatal Cytogenetic Diagnosis Program by means of amniocentesis procedure in Minas de Matahambre

Las alteraciones cromosómicas son cambios que afectan el número y la estructura de los cromosomas y su riesgo aumenta con las edades extremas de la vida, la amniocentesis constituye un importante medio de diagnóstico prenatal citogenético. El objetivo fue analizar el comportamiento del programa de diagnóstico prenatal citogenético en el municipio de Minas de Matahambre en cuanto a grupos de edades en que se distribuyen las gestantes captadas, causas de indicación de la amniocentesis y principales resultados del examen. Se realizó un estudio descriptivo, retrospectivo y de corte longitudinal al total de gestantes con indicación de amniocentesis desde enero de 2007 a diciembre de 2012, en las tres áreas de salud del municipio Minas de Matahambre analizando los principales parámetros relacionados con el diagnóstico prenatal citogenético. El mayor por ciento de captaciones corresponde al policlínico Comunitario José Elías Borges (38,3 por ciento), es significativo el incremento de gestantes adolescentes (22,2 por ciento), el programa muestra una cobertura de 96,1 por ciento, la edad materna avanzada constituye la principal indicación y se han diagnosticado algunas cromosomopatías. Se manifiesta la aceptación del diagnóstico prenatal citogenético por parte de las gestantes, se ha demostrado que la edad materna avanzada constituye la principal causa de su indicación, han sido diagnosticadas algunas aberraciones cromosómicas y el programa ha contribuido mejorar los indicadores maternos infantiles (AU)

Chromosomal abnormalities are changes that affect the number and structure of chromosomes, the risk increases with extreme lifetime ages, and the amniotic fluid test (AFT) constitutes an important means of Prenatal Cytogenetic Diagnosis. The objective was to analyze the behavior of Prenatal Cytogenetic Diagnosis Program in Minas de Matahambre municipality in view of the group of ages the pregnant women are distributed at the same time they are recruited, along with the causes to prescribe the amniocentesis as well as the results of the AFT. A descriptive, retrospective and longitudinal study was conducted to the total of pregnant women who were prescribed AFT from January 2007 to December 2012 in the three health areas that belong to Minas de Matahambre municipality; examining the main parameters related to Prenatal Cytogenetic Diagnosis. The greatest percentage of recruitments corresponded to"Jose Elias Borges Community Polyclinic (38, 3 per cent), the increase of adolescents was significant (22, 2 per cent), the program showed a coverage of 96, 1 per cent, advancing maternal ages constituted the main prescription; where some chromosomal aberrations were diagnosed. Pregnant women accepted Prenatal Cytogenetic Diagnosis, advancing maternal ages constituted the main cause to prescribe the AFT, some chromosomal aberrations have been diagnosed and the program has contributed to improve maternal and child indicators (AU)

Programa de Diagnóstico Prenatal Citogenético mediante la amniocentesis en Minas de Matahambre / Prenatal Cytogenetic Diagnosis Program by means of amniocentesis procedure in Minas de Matahambre

Introducción: las alteraciones cromosómicas son cambios que afectan el número y la estructura de los cromosomas y su riesgo aumenta con las edades extremas de la vida, la amniocentesis constituye un importante medio de diagnóstico prenatal citogenético. Objetivo: analizar el comportamiento del programa de diagnóstico prenatal citogenético en el municipio de Minas de Matahambre en cuanto a grupos de edades en que se distribuyen las gestantes captadas, causas de indicación de la amniocentesis y principales resultados del examen. Material y método: se realizó un estudio descriptivo, retrospectivo y de corte longitudinal al total de gestantes con indicación de amniocentesis desde enero de 2007 a diciembre de 2012, en las tres áreas de salud del municipio Minas de Matahambre analizando los principales parámetros relacionados con el diagnóstico prenatal citogenético. Resultados: el mayor por ciento de captaciones corresponde al policlínico Comunitario José Elías Borges (38,3 %), es significativo el incremento de gestantes adolescentes (22,2 %), el programa muestra una cobertura de 96,1 %, la edad materna avanzada constituye la principal indicación y se han diagnosticado algunas cromosomopatías. Conclusiones: se manifiesta la aceptación del diagnóstico prenatal citogenético por parte de las gestantes, se ha demostrado que la edad materna avanzada constituye la principal causa de su indicación, han sido diagnosticadas algunas aberraciones cromosómicas y el programa ha contribuido mejorar los indicadores maternos infantiles.

Introduction: chromosomal abnormalities are changes that affect the number and structure of chromosomes, the risk increases with extreme lifetime ages, and the amniotic fluid test (AFT) constitutes an important means of Prenatal Cytogenetic Diagnosis. Objective: to analyze the behavior of Prenatal Cytogenetic Diagnosis Program in Minas de Matahambre municipality in view of the group of ages the pregnant women are distributed at the same time they are recruited, along with the causes to prescribe the amniocentesis as well as the results of the AFT. Material and method: a descriptive, retrospective and longitudinal study was conducted to the total of pregnant women who were prescribed AFT from January 2007 to December 2012 in the three health areas that belong to Minas de Matahambre municipality; examining the main parameters related to Prenatal Cytogenetic Diagnosis. Results: the greatest percentage of recruitments corresponded to "Jose Elias Borges" Community Polyclinic (38, 3%), the increase of adolescents was significant (22, 2%), the program showed a coverage of 96, 1 %, advancing maternal ages constituted the main prescription; where some chromosomal aberrations were diagnosed. Conclusions: pregnant women accepted Prenatal Cytogenetic Diagnosis, advancing maternal ages constituted the main cause to prescribe the AFT, some chromosomal aberrations have been diagnosed and the program has contributed to improve maternal and child indicators.