SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

Q4Artículo original95-102SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3–15% frequency. In this study, the multiplex ligation‐dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS

Evaluación de la calidad de vida en niños y adolescentes con diabetes tipo 1 en dos instituciones de salud en Bogotá, Colombia

Introduction: Diabetes mellitus is one of the most prevalent chronic diseases in the pediatric and juvenile population that affects the quality of life of patients. Objective: To evaluate the quality of life of a pediatric population under 18 years of age diagnosed with type 1 diabetes from two pediatric institutions in the city of Bogotá. Material and methods: Collection of sociodemographic data and clinical variables and application of the PedsQL 4.0 survey and the diabetes module 3.2 version validated in Spanish. The sociodemographic data, the clinical variables and the PedsQL survey were processed in the statistical software STATA 17. Results: In the global score of the PedsQL 3.2 diabetes version, men presented better quality of life compared to women. The correlation between the HbA1c values and the PedsQL scale in the global score was evaluated, patients with HbA1c values below 9% presented a better health-related quality of life, while in the group with HbA1c greater than 9% a perception of low quality of life was observed (p 0.025). Regarding the type of therapy and the relationship with the domains of the PedsQL 3.2 diabetes version, patients who used insulin pumps had better scores in the domains barriers, adherence, concern, communication and in the global score compared to patients who used multiple daily injections of insulin as treatment. (p 0.0363). Conclusions: In our patients, a better metabolic control (measured by the HbA1c value) and the use of an insulin pump contribute to a better perception of quality of life.Introducción. La diabetes mellitus es una de las enfermedades crónicas con mayor prevalencia en la población pediátrica y juvenil con efectos en la calidad de vida de los pacientes. Objetivo. Evaluar la calidad de vida de una población pediátrica menor de 18 años con diagnóstico de diabetes tipo 1 de dos instituciones pediátricas de la ciudad de Bogotá. Materiales y métodos. Recolección de datos sociodemográficos, aplicación de la encuesta PedsQL 4.0 y el módulo diabetes 3.2 versión validada al español. Los datos se procesaron en el software estadístico STATA 17. Resultados. En el puntaje global del PedsQL 3.2 versión diabetes se evaluó la correlación entre los valores de HbA1c y la escala PedsQL, los pacientes con valores por debajo de 9% de HbA1c presentaron una mejor calidad de vida relacionada en salud, mientras que en el grupo con HbA1c mayor de 9% se observó una percepción de calidad de vida baja (p 0.025). En cuanto el tipo de terapia y la relación con los dominios del PedsQL 3.2 versión diabetes, los pacientes usuarios de microinfusora presentaban mejor puntaje en los dominios barreras, adherencia, preocupación, comunicación y en el puntaje global respecto a los pacientes quienes usaban múltiples inyecciones de insulina como tratamiento (p 0.0363). Conclusiones. En nuestros pacientes, un mejor control metabólico (medido por el valor de HbA1c) y uso de microinfusora contribuyen a una mejor percepción de calidad de vida

Conocimiento y consumo de edulcorantes no calóricos en estudiantes universitarios peruanos

The objective of the present investigation was to evaluate the level of knowledge and consumption of non-caloric sweeteners in university students of the Faculty of Agriculture and Nutrition at the National University of Education "Enrique Guzmán y Valle". Likewise, associate the level of knowledge according to sociodemographic characteristics such as gender, academic cycle and study program. The research was of a quantitative, non-experimental or observational, cross-sectional approach. The sample consisted of 123 students from the different cycles of the Food Industries and Nutrition, Human Nutrition, Agricultural and Environmental Development programs. The level of knowledge and consumption of sweeteners was evaluated through a questionnaire prepared by the researchers, content validity was performed through expert judgment (94.1) and internal consistency through reliability analysis (0.820). . The data was presented at a descriptive and inferential level, the statistical analysis obtained a confidence level of 95% and an error level of 5%. The results showed that the level of knowledge about non-caloric sweeteners is low (71.6%) and at a medium level (27.6%). The sweetener that students know the most is stevia (43.5%), followed by sucrose (21.7%). One (60.2%) consumes sweeteners daily. In the logistic regression between the level of knowledge with the program and gender, it was higher in men (marginal p) and with the program, the association between consumption of non-caloric sweeteners with knowledge and demographic characteristics, a reduction in consumption was found. of sweeteners that was associated with knowledge and the program. No relationship was observed with age, sex and cycle of studies.El objetivo de la presente investigación fue evaluar el nivel de conocimiento y consumo de edulcorantes no calóricos en estudiantes universitarios de la Facultad de Agropecuaria y Nutrición en la Universidad Nacional de Educación “Enrique Guzmán y Valle”. Asimismo, asociar, el nivel de conocimiento según las características sociodemográficas como sexo, ciclo académico y programa de estudio. La investigación fue de enfoque cuantitativo, no experimental u observacional, de corte transversal. La muestra estuvo conformada por 123 estudiantes de los diferentes ciclos de los programas de Industrias Alimentarias y Nutrición, Nutrición Humana, Agropecuaria y Desarrollo Ambiental. El nivel de conocimientos y consumo de edulcorantes, se evaluó a través de un cuestionario elaborado por los investigadores, la validez de contenido fue realizado a través del juicio de expertos (94.1) y la coherencia interna a través del análisis de la confiabilidad (0.820). Los datos fueron presentados a nivel descriptivo e inferencial, el análisis estadístico obtuvo un nivel de confianza del 95% y un nivel de error 5%. Los resultados demostraron que el nivel de conocimientos sobre los edulcorantes no calóricos es bajo (71.6%) y en un nivel medio (27.6%). El edulcorante que más conocen los estudiantes es la estevia (43.5%), seguida de la sacarosa (21,7%). Un (60.2%) consume a diario edulcorantes. En la regresión logística entre el nivel de conocimiento con el programa y sexo, fue mayor en los varones (p marginal) y con el programa, la asociación entre consumo de edulcorantes no calóricos con conocimiento y características demográficas, se encontró una reducción en el consumo de edulcorantes que fue asociado al conocimiento y el programa. No se observó relación con edad, sexo y ciclo de estudios.&nbsp

Identification of point mutations of the 21-hydroxylase gene in patients affected with congenital adrenal hyperplasia

Introducción: La hiperlasia suprarrenal congenita es un trastorno autosomico recesivo debido a la inadecuada secreción de cortisol. Más del 95% de los casos de hiperplasia suprarrenal congenita son causados por defectos del gen de la 21 hidroxilasa, CYP21A2. Las manifestaciones clinicas incluyen la forma clasica y la forma no clasica. Objetivos: determinar la frecuencia de las mutaciones puntuales P30L, IVS2-12A/C-G,del 8pb, I172N, cluster Ex 6, V281L, Q318X,R356W y P453S en pacientes con hiperplasia suprarrenal congenita. Materiales y metodos: Se estudiaron 58 pacientes, de los cuales, 48 fueron clasicos y 10 no clasicos. Mediante PCR alelo-especifica y ACRS (Amplified Creation Restriction Sites), se analizaron 9 mutaciones puntuales del gen CYP21A2 y se determino la frecuencia en la población analizada. Resultados. Los alelos afectados se identificaron en el 82,8% de los cromosomas. Las mutaciones mas frecuentes fueron: IVS2-12A/C-G (26,7%),Q318X(21-5%), V281L (12,1%) e I172N (12,15). Conclusiones: Las mutaciones mas frecuentes en Colombia son similares a las de otros paises del mundo, exepto para Q318X que presento una mayor frecuencoa, pero similar a la de otros paises latinoamericanos. Este hallazgo y la existencia de 17,2% de alelos no identificados puede indicar diferencia entre el acervo genetico de las poblaciones. En la forma clasica perdedora de la sal predominaron las mutaciones Q318X e IVS2-A12/C-G; en la virilizante simple, IVS2-12A/C-G e I172N y en la no clasica, V281L, lo cual esta relaiconado con el grado de actividad enzimatica. En la forma no clasica, se encontraron alelos severos en el 66,7% de los casos, lo que determina el riesgo de tener hijos afectados con la forma grave virilizante simple o perdedora de sal. Los resultados reportados permiten ofrecer asesoramiento genetico y diagnostico personal.Introduction: Congenital adrenal hyperlasia is an autosomal recessive disorder due to inadequate cortisol secretion. More than 95% of cases of congenital adrenal hyperplasia are caused by defects of the 21 hydroxylase gene, CYP21A2. Clinical manifestations include the classical form and the non-classical form. Objectives: to determine the frequency of point mutations P30L, IVS2-12A / C-G, del 8pb, I172N, cluster Ex 6, V281L, Q318X, R356W and P453S in patients with congenital adrenal hyperplasia. Materials and methods: 58 patients were studied, of which 48 were classical and 10 non-classical. Using allele-specific PCR and ACRS (amplified creation restriction sites), analyze 9 point mutations of the CYP21A2 gene and determine the frequency in the population analyzed. Results. The affected alleles are identified in 82.8% of the chromosomes. The most frequent mutations were: IVS2-12A / C-G (26.7%), Q318X (21-5%), V281L (12.1%) and I172N (12.15). Conclusions: The most frequent mutations in Colombia are similar to those of other countries in the world, except for Q318X, which has a higher frequency, but similar to that of other Latin American countries. This finding and the existence of 17.2% of unidentified alleles may indicate a difference between the gene pool of the populations. In the classic salt-losing form, predominantly the Q318X and IVS2-A12 / C-G mutations; in the simple virilizer, IVS2-12A / C-G and I172N and in the non-classical one, V281L, which is related to the degree of enzymatic activity. In the non-classical form, severe alleles were found in 66.7% of the cases, which determined the risk of having children affected with the severe virilizing simple or salt-losing form. The reported results allow to offer genetic counseling and personal diagnosis

Noninsulin Antidiabetic Drugs for Patients with Type 2 Diabetes Mellitus: Are We Respecting Their Contraindications?

Aim. To assess prescribing practices of noninsulin antidiabetic drugs (NIADs) in T2DM with several major contraindications according to prescribing information or clinical guidelines: renal failure, heart failure, liver dysfunction, or history of bladder cancer. Methods. Cross-sectional, descriptive, multicenter study. Electronic medical records were retrieved from all T2DM subjects who attended primary care centers pertaining to the Catalan Health Institute in Catalonia in 2013 and were pharmacologically treated with any NIAD alone or in combination. Results. Records were retrieved from a total of 255,499 pharmacologically treated patients. 78% of patients with some degree of renal impairment (glomerular filtration rate (GFR) < 60 mL/min) were treated with metformin and 31.2% with sulfonylureas. Even in the event of severe renal failure (GFR < 30 mL/min), 35.3% and 22.5% of patients were on metformin or sulfonylureas, respectively. Moreover, metformin was prescribed to more than 60% of patients with moderate or severe heart failure. Conclusion. Some NIADs, and in particular metformin, were frequently used in patients at high risk of complications when they were contraindicated. There is a need to increase awareness of potential inappropriate prescribing and to monitor the quality of prescribing patterns in order to help physicians and policymakers to yield better clinical outcomes in T2DM

Familial hypercholesterolaemia: A study of 36 cases with a phenotype of homozygous familiar hypercholesterolaemia

La hipercolesterolemia familiar homocigótica (HFHo) se caracteriza por niveles muy elevados de cLDL y por enfermedad aterosclerótica temprana. Aunque la frecuencia es baja (1/300.000), las complicaciones son muy severas y pueden ser evitadas. Encontrar y tratar esta población de manera temprana podría reducir la mortalidad. Se describen 36 casos en Colombia, en donde se calcula que haya entre 160 y 200 casos. Resultados Un total de 36 pacientes con fenotipo sugestivo de HFHo fueron identificados y tratados en un período de observación de cuatro años. La media de edad fue 27 años (24 mujeres). 34 pacientes tuvieron un puntaje según la Red de Clínicas de Lípidos de Holanda (RCLH) mayor de 8 (diagnóstico definitivo) y los restantes 2 tenían puntaje equivalente a diagnóstico probable. Un cuarto de los casos procedían de la costa norte colombiana. En las pruebas genéticas, 14 fueron homocigóticos verdaderos para mutación del gen que codifica para el receptor de LDL (LDLR), 12 heterocigóticos compuestos, 2 heterocigóticos dobles y uno autosómico recesivo (LDLRAP1); 5 pacientes fueron heterocigóticos simples (LDLR) y 2 pacientes no autorizaron la prueba. En los homocigóticos verdaderos, la variante más frecuente encontrada fue la c.11G>A. 14 pacientes cursaron con enfermedad coronaria, 9 con estenosis carotídea, 8 con estenosis aórtica y 2 tuvieron ataques cerebrovasculares (ACV). 34 pacientes recibían estatinas (24 rosuvastatina), 30 recibían ezetimibe, 2 recibían evolocumab y 20 recibían lomitapide (dosis promedio 12,7mg). Ninguno recibió aféresis de cLDL. Los medicamentos, en general, fueron bien tolerados y la reducción promedio de cLDL con la terapia fue de 533,7mg/dl a 245,1mg/dl (54%). Conclusiones Todos los pacientes recibieron tratamiento hipolipemiante y se encontraron alteraciones genéticas diagnósticas en todos aquellos que autorizaron el examen. Los niveles elevados de cLDL conllevan tanto riesgo que el tratamiento debe establecerse aún sin conocer el diagnóstico genético.Homozygous familial hypercholesterolemia (HoFH) is characterized for very high levels of cLDL and early cardiovascular disease. Although incidence is low (1/300 000), complications are very severe and can be avoided. Finding and treating this population promptly could reduce mortality. We describe 36 cases in Colombia, where 160 to 200 cases are expected. Results 36 patients with phenotype of HoHF were identified and treated in a follow-up of 4 years. The mean age was 27 years (24 women). 34 of them had at least 8 points in the FH Dutch Lipid Clinic Criteria (definitive diagnosis) and two had probable diagnosis. A quarter of the cases came from the Colombian North Coast. In molecular tests, 14 were true homozygous for LDLR, 12 were compound heterozygous for LDLR, 2 double heterozygous and one was autosomal recessive; 5 were heterozygous and 2 patients did not authorized genetic test. In true homozygous subjects, the most frequent variant was c.11G>A. 14 patients had coronary disease, 9 carotid stenosis, 8 aortic stenosis and 2 had stroke. 34 patients were on statins (25 rosuvastatin), 30 were receiving ezetimibe, 2 were receiving a PSCK9 inhibitor (evolocumab) and 20 were on lomitapide with mean doses of 12.7mg. None received lipoprotein apheresis. Medications were very well tolerated. Changes in cLDL after therapy was from 533.7 mg/dL to 245 mg/dL, (54%). Conclusions Treatment was started in all patients. We found genetic mutations in all patients with genetic tests. The high levels of cLDL mean such a high risk that treatment must be started promptly, even without a genetic test

Noninsulin Antidiabetic Drugs for Patients with Type 2 Diabetes Mellitus : Are We Respecting Their Contraindications?

Aim. To assess prescribing practices of noninsulin antidiabetic drugs (NIADs) in T2DM with several major contraindications according to prescribing information or clinical guidelines: renal failure, heart failure, liver dysfunction, or history of bladder cancer. Methods. Cross-sectional, descriptive, multicenter study. Electronic medical records were retrieved from all T2DM subjects who attended primary care centers pertaining to the Catalan Health Institute in Catalonia in 2013 and were pharmacologically treated with any NIAD alone or in combination. Results. Records were retrieved from a total of 255,499 pharmacologically treated patients. 78% of patients with some degree of renal impairment (glomerular filtration rate (GFR) < 60 mL/min) were treated with metformin and 31.2% with sulfonylureas. Even in the event of severe renal failure (GFR < 30 mL/min), 35.3% and 22.5% of patients were on metformin or sulfonylureas, respectively. Moreover, metformin was prescribed to more than 60% of patients with moderate or severe heart failure. Conclusion. Some NIADs, and in particular metformin, were frequently used in patients at high risk of complications when they were contraindicated. There is a need to increase awareness of potential inappropriate prescribing and to monitor the quality of prescribing patterns in order to help physicians and policymakers to yield better clinical outcomes in T2DM

Familial hypercholesterolemia : review article

La hipercolesterolemia familiar (HF) es una alteración de origen genético que clínicamente se puede manifestar desde el nacimiento y que se caracteriza por niveles plasmáticos anormalmente altos de colesterol LDL (cLDL) y por una elevada tasa de morbimortalidad cardiovascular prematura. Tiene dos formas de presentación: la HF heterocigótica (HFHe) y la HF homocigótica (HFHo); esta última más severa y de aparición clínica en los primeros años de vida. Históricamente, la prevalencia para la HFHe es de un caso en 500 personas y para la HFHo de un caso por cada millón de personas; sin embargo, los datos reales probablemente son superiores porque hay evidencia de que ambas condiciones están subdiagnosticadas. La terapia recomendada, además de los cambios en el estilo de vida, son las estatinas; sin embargo, con estos fármacos es difícil lograr en muchos casos reducciones aceptables del cLDL, por lo que se requiere asociar otras modalidades terapéuticas, algunas de ellas recientemente aprobadas. Dado que en Colombia no se ha publicado ningún documento de revisión sobre HF, la Sociedad Colombiana de Cardiología y Cirugía Cardiovascular convocó a diferentes especialidades de la medicina para elaborar un documento sobre el tema, que resumiera, de manera práctica y actualizada, aspectos clínicos, genéticos, diagnósticos y de tratamiento.Q44-26Familial hypercholesterolemia (FH) is a genetic disorder that may clinically manifest since birth and is characterized by abnormally high plasma LDL cholesterol (LDLc) levels and a high early cardiovascular morbidity and mortality rate. FH has two presentation forms: heterozygous FH (HeFH) and homozygous FH (HoFH), the latter being more severe and with a clinical onset during the first few years of life. Historically, HeFH prevalence is of 1:500 and HoFH of 1:1 million; however, real data are probably higher because evidence indicated that both conditions are underdiagnosed. Recommended therapy, besides lifestyle changes, are statins; nevertheless, these drugs make it difficult in many cases to achieve reasonable cLDL reductions, therefore an association with other therapeutic models, some of which have recently been approved, is required. Since no review papers have been published in Colombia regarding FH, the Colombian Cardiology and Cardiovascular Surgery Society invited several medical specialties to draft a document on the subject that would sum up, in a practical and updated way, clinical, genetics, diagnostics and therapeutic aspects

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Coordinator: Hernán Míguez.Peer reviewe

Incentive or Habit Learning in Amphibians?

Toads (Rhinella arenarum) received training with a novel incentive procedure involving access to solutions of different NaCl concentrations. In Experiment 1, instrumental behavior and weight variation data confirmed that such solutions yield incentive values ranging from appetitive (deionized water, DW, leading to weight gain), to neutral (300 mM slightly hypertonic solution, leading to no net weight gain or loss), and aversive (800 mM highly hypertonic solution leading to weight loss). In Experiment 2, a downshift from DW to a 300 mM solution or an upshift from a 300 mM solution to DW led to a gradual adjustment in instrumental behavior. In Experiment 3, extinction was similar after acquisition with access to only DW or with a random mixture of DW and 300 mM. In Experiment 4, a downshift from DW to 225, 212, or 200 mM solutions led again to gradual adjustments. These findings add to a growing body of comparative evidence suggesting that amphibians adjust to incentive shifts on the basis of habit formation and reorganization