Epidemiological Overview of Overweight and Obesity Related to Eating Habits, Physical Activity and the Concurrent Presence of Depression and Anxiety in Adolescents from High Schools in Mexico City: A Cross-Sectional Study.

Overweight and obesity in adolescents has become a serious public health problem worldwide and Mexico City is no exception. Therefore, the objective of this study was to investigate the epidemiological panorama of overweight and obesity related to eating habits, physical activity and the concurrent presence of depression and anxiety in adolescents from high schools in Mexico City. Anthropometric measurements were taken from 2710 adolescents from 33 participating high schools. Likewise, a previously validated eating habit and physical activity questionnaire was administered, which consisted of four different sections, where each of the sections focused on key aspects of the participants' lifestyle: (1) eating habits, (2) intake of non-recommended foods, (3) food and company environment, and (4) physical activity. Moreover, the Hospital Anxiety and Depression Scale (HADS) for anxiety and depression was applied. In this study, a high prevalence of overweight and obesity (26.5% overweight and 20.0% obese) was found in adolescents from high schools in Mexico City. Only 13.14% of participants had adequate eating habits and 18.19% physical activity habits. An association was found between having inadequate eating habits and obesity in adolescent women (OR = 1.95; CI 1.009-3.76). Additionally, associations were observed between depression symptoms and obesity (OR = 5.68, CI 1.36-32.81; p = 0.01), while anxiety was associated with underweight and obesity adjusted by other dietary habits and psychological factors. Therefore, it is important to identify adolescents with overweight or obesity and establish prevention strategies for weight control in this age group, promoting healthy eating, physical activity and education in mental health.

Home-based prehabilitation improves physical conditions measured by ergospirometry and 6MWT in colorectal cancer patients: a randomized controlled pilot study.

PURPOSE/BACKGROUND: Prehabilitation aims to improve physical condition in the preoperative period and, therefore, decrease the loss of cardiopulmonary capacity postoperatively, with the aim of reducing complications and promoting an early recovery. This study aims to evaluate the impact of home-based prehabilitation on the physical condition of patients treated surgically for colorectal cancer. METHODS: A prospective and randomized clinical study was conducted on 60 patients during two periods from October 2018 to February 2019 and from September 2019 to September 2020, in a single university hospital. Patients were randomized into two study groups (30 per group): prehabilitation vs. standard care. Changes in physical condition, measured at diagnosis, the day before surgery, and at 6-8 weeks after surgery using the cardiopulmonary exercise testing (CPET) and the 6-minute walk test (6MWT) were evaluated. RESULTS: Prehabilitation reduced postoperative complications (17.4% vs. 33.3%, p = 0.22) and hospital stay (5.74 vs. 6.67 days, p = 0.30). 6MWT showed a significant improvement in the prehabilitation group (+78.9 m). Six weeks after surgery, prehabilitation showed a significant improvement in the 6MWT (+68.9 m vs. -27.2 m, p = 0.01). Significant differences were also observed in the ergospirometry between the diagnosis and postoperative study (+0.79 METs vs. -0.84 METs, p = 0.001). A strong correlation was observed between CPET and 6MWT (0.767 (p < 0.001)). CONCLUSION: Home prehabilitation achieved lower overall postoperative complications than standard care and reached significant improvements in 6MWT and CET. A strong correlation was observed between CET and 6MWT, which allows validation of 6MWT as a valid and reliable measure of functional exercise capacity in colorectal patients when other, more specific and expensive tests are not available. TRIAL REGISTRATION: Registered in ClinicalTrials.gov in August 2018 with registration number https://clinicaltrials.gov/study/NCT03618329?cond=Prehabilitation%20cancer&term=arroyo&distance=50&rank=1  (NCT03618329). Initial results published in Supportive Care in Cancer: Effect of home-based prehabilitation in an enhanced recovery after surgery program for patients undergoing colorectal cancer surgery during the COVID-19 pandemic. DOI: https://doi.org/10.1007/s00520-021-06343-1 .

Impact of Body Composition and Sarcopenia on Mortality in Chronic Obstructive Pulmonary Disease Patients.

BACKGROUND: Patients with chronic obstructive pulmonary disease (COPD) have alterations in body composition, such as low cell integrity, body cell mass, and disturbances in water distribution evidenced by higher impedance ratio (IR), low phase angle (PhA), as well as low strength, low muscle mass, and sarcopenia. Body composition alterations are associated with adverse outcomes. However, according to the European Working Group on Sarcopenia in Older People 2 (EWGSOP2), the impact of these alterations on mortality in COPD patients is not well-established. Our aims were to evaluate whether low strength, low muscle mass, and sarcopenia impacted mortality in COPD patients. METHODS: A prospective cohort study performance was conducted with COPD patients. Patients with cancer, and asthma were excluded. Body composition was assessed by bioelectrical impedance analysis. Low strength and muscle mass, and sarcopenia were defined according to EWGSOP2. RESULTS: 240 patients were evaluated, of whom 32% had sarcopenia. The mean age was 72.32 ± 8.24 years. The factors associated with lower risk of mortality were handgrip strength (HR:0.91, CI 95%; 0.85 to 0.96, p = 0.002), PhA (HR:0.59, CI 95%; 0.37 to 0.94, p = 0.026) and exercise tolerance (HR:0.99, CI 95%; 0.992 to 0.999, p = 0.021), while PhA below the 50th percentile (HR:3.47, CI 95%; 1.45 to 8.29, p = 0.005), low muscle strength (HR:3.49, CI 95%; 1.41 to 8.64, p = 0.007) and sarcopenia (HR:2.10, CI 95%; 1.02 to 4.33, p = 0.022) were associated with a higher risk of mortality. CONCLUSION: Low PhA, low muscle strength, and sarcopenia are independently associated with poor prognosis in COPD patients.

Effects on cardiometabolic risk factors after reduction of artificially sweetened beverage consumption in overweight subjects. A randomised controlled trial.

BACKGROUND: The consumption of artificially sweetened beverages (ASBs) has been linked to metabolic alterations. The effect of reducing the regular consumption of these beverages on the metabolism is currently unknown. OBJECTIVE: To evaluate the effect of reducing consumption of ASBs on the metabolism in overweight young adults. DESIGN: A randomised, single-blind, controlled, 12-week, clinical trial was performed in overweight young adults who regularly consume ASBs. The 45 subjects who participated in the study were randomly divided into two groups: (1) control group (n=21) and (2) intervention group (no intake of ASBs, n=24). Body weight and composition, fasting plasma concentrations of glucose, triglycerides, insulin, cholesterol, low-density lipoproteins and high-density lipoproteins were measured at the beginning and end of the study. and the HOMA-IR was calculated. RESULTS: At the end of 12 weeks, the intervention group showed a significant decrease (as opposed to an increase in the control group) in the percentage of change in body weight (-1.22% vs 1.31%, p<0.004), body fat (-6.28% vs 6.15%, p<0.001) and insulin resistance index (-12.06 vs 38.21%, p<0.00002), as well as in levels of glucose (-4.26% vs 0.51%, p<0.05), triglycerides (-14.74% vs 19.90%, p<0.006), insulin (-8.02% vs 39.23%, p<0.00005), cholesterol (-8.71% vs 0.77%, p<0.01) and LDL (-9.46% vs 9.92%, p<0.004). CONCLUSION: A reduction in habitual consumption of ASBs in overweight young adults decreases biochemical measurements, body weight and composition, suggesting a participation in the metabolic processes.

The impact of hydration status and fluid distribution on pulmonary function in COPD patients.

Chronic Obstructive Pulmonary Disease (COPD) patients have alterations in body composition. Bioelectrical impedance analysis (BIA) evaluates body composition, hydration status, and fluid distribution. Subjects with fluid disturbances have been found to have lower FEV1, respiratory muscle strength, and poor prognosis. We aimed to evaluate the effect of hydration status and fluid distribution on pulmonary function in COPD patients. A cross-sectional study, 180 patients with a confirmed diagnosis of COPD were included. Patients with asthma, advanced renal or liver disease, acute HF, exacerbation of COPD, or pacemakers were excluded. Hydration status variables (TBW, ECW, ICW) and disturbance of fluid distribution [impedance ratio (IR) > 0.84 and phase angle (PhA)] were evaluated by BIA. Pulmonary function was assessed by spirometry. The mean population age was 71.55 ± 8.94 years; 55% were men. Subjects were divided into two groups according to the IR ≥ 0.84 or < 0.84. The group with higher IR ≥ 0.84 had lower FEV1, FVC, FEV1/FVC, DLCO and, PhA compared to those with IR < 0.84. After adjusting for confounding variables TBW, ECW, IR ≥ 0.84, PhA, and resistance/height increase were associated with decreased FEV1. In the same way, with IR ≥ 0.84, edema index ≥ 0.48, trunk and abdominal IR were negatively associated with FVC, and PhA had a positive association with FVC. Fluid distribution, especially IR and PhA, could be a useful parameter for predicting pulmonary function in COPD patients.

Effects on cardiometabolic risk factors after reduction of artificially sweetened beverage consumption in overweight subjects. A randomised controlled trial.

BACKGROUND: The consumption of artificially sweetened beverages (ASBs) has been linked to metabolic alterations. The effect of reducing the regular consumption of these beverages on the metabolism is currently unknown. OBJECTIVE: To evaluate the effect of reducing consumption of ASBs on the metabolism in overweight young adults. DESIGN: A randomised, single-blind, controlled, 12-week, clinical trial was performed in overweight young adults who regularly consume ASBs. The 45 subjects who participated in the study were randomly divided into two groups: (1) control group (n=21) and (2) intervention group (no intake of ASBs, n=24). Body weight and composition, fasting plasma concentrations of glucose, triglycerides, insulin, cholesterol, low-density lipoproteins and high-density lipoproteins were measured at the beginning and end of the study. and the HOMA-IR was calculated. RESULTS: At the end of 12 weeks, the intervention group showed a significant decrease (as opposed to an increase in the control group) in the percentage of change in body weight (-1.22% vs 1.31%, p<0.004), body fat (-6.28% vs 6.15%, p<0.001) and insulin resistance index (-12.06 vs 38.21%, p<0.00002), as well as in levels of glucose (-4.26% vs 0.51%, p<0.05), triglycerides (-14.74% vs 19.90%, p<0.006), insulin (-8.02% vs 39.23%, p<0.00005), cholesterol (-8.71% vs 0.77%, p<0.01) and LDL (-9.46% vs 9.92%, p<0.004). CONCLUSION: A reduction in habitual consumption of ASBs in overweight young adults decreases biochemical measurements, body weight and composition, suggesting a participation in the metabolic processes.

Prevention of myocardial infarction and stroke with PCSK9 inhibitors treatment: a metanalysis of recent randomized clinical trials.

PURPOSE: Proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors treatment induce large reductions in low-density lipoprotein cholesterol (LDLc) and major cardiovascular events. Clinical trials might have been underpowered to test the effect of PSCK9 inhibitors treatment on myocardial infarction and stroke, two of the most relevant cardiovascular events, since all analyzed a combined endpoint. METHODS: we performed a meta-analysis, with currently available studies involving PCSK9 inhibitors and event rate adjudication, with the aim of assessing treatment effects on myocardial infarction and stroke. RESULTS: We included 81,700 patients, 41,979 treated with a PSCK9 inhibitors: 17,244 with evolocumab; 13,720 with bococizumab and 11,015 with alirocumab. A total of 1,319 cases of myocardial infarctions were registered in the treatment group vs. 1,608 in controls, resulting in 19.0% reduction associated with PCSK9 treatment (RR: 0.81, 95% CI 0.76-0.87). Similarly, PCSK9 inhibitors treatment resulted in a 25% reduction of stroke (RR: 0.75, 95% CI 0.65-0.85) when all studies were analyzed together and the statistically significant heterogeneity was not observed in the analysis restricted to end-point based clinical trials. PCSK9 inhibitors treatment had no effect on mortality (RR: 0.95, 95% CI 0.86-1.04). CONCLUSIONS: PCSK9 inhibitors reduce the incidence of myocardial infarction by 19% and stroke by 25%.

Eventos genéticos poco frecuentes detectados en estudios de relación filial mediante marcadores de ADN / Low frequency genetic events found in filial relatio nships studies with DNA markers

Introducción: En los estudios de relación filial son ampliamente utilizados marcadores de ADN tipo STR (del inglés Short Tandem Repeats), muy informativos debido a su variabilidad genética.Análisis y síntesis de la información: Durante la elaboración de los estudios de realización de marcadores STR, realizados por el Centro Nacional de Genética Médica en conjunto con el Instituto de Medicina Legal, se identificaron algunos eventos pocos frecuentes que se presentan en este trabajo, siendo ellos: mutación germinal, alelo fuera del rango esperado y patrón trialélico.Conclusiones: Con la presentación de tres eventos genéticos se demuestra la gran complejidad que puede presentar los estudios de relación filial y la importancia de tenerlos en cuenta a la hora de emitir los resultados…(AU)

Dinámica de los estudios de relación filial en Cuba / Dynamics of filial relationship studies in Cuba

Introducción: La indefinición en la relación filial entre individuos repercute severamente en el estado psicosocial de los involucrados y es posible de resolver en la actualidad mediante las técnicas de análisis de ADN. La colaboración establecida entre el Centro Nacional de Genética Médica y el Instituto de Medicina Legal, permitió realizar estos estudios a partir de 2017.Objetivo: Conocer las principales características de cien estudios de relación filial realizados entre los años 2017 y 2018 para obtener información que permita establecer una estrategia futura al respecto.Métodos: Se realizaron cien estudios de relación filial, los cuales implicaban 115 análisis de relación filial, mediante el empleo de 11 marcadores de ADN microsatélites que fueron genotipados por la técnica de Reacción en Cadena de Polimerasa, resueltos en geles de poliacrilamida desnaturalizantes y visualizados mediante tinción con plata. Como criterios para el cierre de los análisis fueron definidos alcanzar una razón de verosimilitud no menor de 100 o al menos 3 exclusiones. Para concluir casos no resueltos o caracterizar eventos genéticos poco frecuentes que se presentaron, se utilizó el sistema multiplex GenomeLab™ Human STR Primer Set de la firma Beckman Coulter.Resultados: Los estudios dirigidos a evaluar la paternidad representaron 98(percent) el total. Se recibieron también otros dirigidos a evaluar la maternidad y la hermandad (uno en cada caso). Se realizaron 115 análisis de relación filial, de ellos 112 de paternidad. El 76,8 (percent) de los análisis de paternidad contaron con participación de la madre. El 33(percent) de los análisis de paternidad indicaron exclusión de este vínculo familiar, obteniéndose como promedio 4 marcadores excluyentes por análisis excluyente. El 96,4(percent) de los análisis de paternidad realizados cumplieron los criterios de cierre establecidos.Conclusiones: Fueron resueltos satisfactoriamente los distintos tipo…(AU)

Experiencia inicial en la práctica clínica con los inhibidores PCSK-9 para las indicaciones actuales de financiación en España / Initial real-world experience with PCSK-9 inhibitors in current indications for reimbursement in Spain

No disponible

Caracterización molecular del gen GBA en pacientes cubanos con enfermedad de Gaucher / Molecular characterization of the GBA gene in Cuban patients with Gaucher disease

La enfermedad de Gaucher (EG) es el trastorno relacionado con el depósito lisosomal de mayor prevalencia a nivel mundial. Presenta un patrón de herencia autosómico recesivo y se origina fundamentalmente por mutaciones en el gen GBA, localizado en la región cromosómica 1q21, que codifica la enzima lisosomal ácido β-glucosidasa. En el presente trabajo se describen los resultados obtenidos por el laboratorio de Biología Molecular del Centro Nacional de Genética Médica, La Habana, Cuba, en el análisis del gen GBA en pacientes cubanos con sospecha clínica de la EG. Fueron estudiados siete pacientes no emparentados, caracterizados clínicamente y con diagnóstico bioquímico y/o histológico. Se realizó el estudio de cuatro mutaciones mediante amplificación de secuencias del gen GBA y digestión con enzimas de restricción. En los casos en que ninguna de las mutaciones estudiadas por análisis directo estuvo presente, las muestras se sometieron a cribado de mutaciones y secuenciación de ADN. El análisis molecular permitió identificar la mutación presente en el 100(percent) de los cromosomas analizados. Fueron detectadas las mutaciones L444P, N370S e I403T. El presente estudio estableció una metodología para el diagnóstico por biología molecular de la enfermedad de Gaucher en la población cubana que permite ofrecer un servicio diagnóstico efectivo y rápido en pacientes con sospecha de la enfermedad y en posibles portadores…(AU)

[Not Available]. / Body composition changes assessed by bioelectrical impedance and their associations with functional class deterioration in stable heart failure patients.

BACKGROUND: Heart failure (HF) patients develop important changes in body composition, but only a small number of studies have evaluated the associations between these changes and functional class deterioration in a prospective manner. OBJECTIVE: The aim of this study was to evaluate whether changes in bioimpedance parameters were associated with NYHA functional class deterioration over six months. METHODS: A total of 275 chronic stable HF patients confirmed by echocardiography were recruited. Body composition measurements were obtained by whole body bioelectrical impedance with multiple frequency equipment (BodyStat QuadScan 4000). We evaluated functional class using the New York Heart Association (NYHA) classification at baseline and after six months. RESULTS: According to our results, 66 (24%) subjects exhibited functional class deterioration, while 209 improved or exhibited no change. A greater proportion of patients exhibited higher extracellular water (> 5%), and these patients developed hypervolemia, according to location on the resistance/reactance graph. A 5% decrease in resistance/height was associated with functional class deterioration with an OR of 1.42 (95% CI 1.01-2.0, p = 0.04). CONCLUSIONS: Body composition assessment through bioelectrical impedance exhibited a valuable performance as a marker of functional class deterioration in stable HF patients.

Body composition changes assessed by bioelectrical impedance and their associations with functional class deterioration in stable heart failure patients / Cambios en la composición corporal por impedancia bioeléctrica y su asociación con el deterioro de la capacidad funcional en pacientes con insuficiencia cardiaca crónica estable

Background: Heart failure (HF) patients develop important changes in body composition, but only a small number of studies have evaluated the associations between these changes and functional class deterioration in a prospective manner. Objective: The aim of this study was to evaluate whether changes in bioimpedance parameters were associated with NYHA functional class deterioration over six months. Methods: A total of 275 chronic stable HF patients confirmed by echocardiography were recruited. Body composition measurements were obtained by whole body bioelectrical impedance with multiple frequency equipment (BodyStat QuadScan 4000). We evaluated functional class using the New York Heart Association (NYHA) classification at baseline and after six months. Results: According to our results, 66 (24%) subjects exhibited functional class deterioration, while 209 improved or exhibited no change. A greater proportion of patients exhibited higher extracellular water (> 5%), and these patients developed hypervolemia, according to location on the resistance/reactance graph. A 5% decrease in resistance/height was associated with functional class deterioration with an OR of 1.42 (95% CI 1.01-2.0, p = 0.04). Conclusions: Body composition assessment through bioelectrical impedance exhibited a valuable performance as a marker of functional class deterioration in stable HF patients (AU)

Introducción: los pacientes con insuficiencia cardiaca (IC) desarrollan cambios importantes en la composición corporal; sin embargo, pocos estudios han evaluado prospectivamente la asociación entre estos cambios y el empeoramiento de la clase funcional en pacientes con IC crónica estable. Objetivo: el objetivo de este estudio fue evaluar si los cambios en los parámetros de la bioimpedancia estaban relacionados con el deterioro de la clase funcional de la clasificación de la New York Heart Association (NYHA) después de 6 meses. Métodos: se incluyeron 275 sujetos con IC crónica estable confirmada por ecocardiograma. Se les realizaron mediciones de composición corporal por impedancia bioeléctrica de cuerpo completo con un equipo de múltiples frecuencias BodyStat QuadScan 4000 y se determinó la clase funcional por la clasificación de la New York Heart Association (NYHA) después de seis meses. Resultados: sesenta y seis (24%) sujetos mostraron deterioro de su clase funcional y 209 la mejoraron o no cambiaron. Se encontró mayor proporción de pacientes que cuya clase funcional se deterioró, en los que aumentó > 5% el agua extracelular y que desarrollaron hipervolemia de acuerdo a su localización en la gráfica resistencia/reactancia. La disminución de > 5% de la resistencia/talla se asoció de forma independiente con el deterioro de la clase funcional con un OR = 1.42 (IC 95% 1.01-2.0, p = 0.04). Conclusiones: la evaluación de la composición corporal a través de bioimpedancia eléctrica en pacientes con IC es un marcador de deterioro funcional (AU)

Distribución de las mutaciones más frecuentes de fibrosis quística en Cuba / Distribution of the most frequent cystic fibrosis mutations in Cuba

Se han identificado más de 1900 mutaciones en el gen CFTR, responsable de la fibrosis quística; algunas de ellas son frecuentes en la mayoría de las poblaciones, mientras que otras caracterizan a una población o familia en particular. Dada la heterogenicidad multinacional y teniendo en cuenta los origenes étnicos de la población cubana, el objetivo de este estudio fue caracterizar la distribución de las mutaciones mas frecuentes en las diferentes regiones del país. Se extrajo ADN a partir de muestras de sangre periférica. La detección de p.F508del, p.G542X, p.R1162X, p.R334W, p.R553X y c.3120+1G>A se realizó mediante la Reacción en Cadena de la Polimerasa, seguido de una digestión enzimática y electroforesis en gel de agarosa. Posteriormente se calculó la frecuencia de las mutaciones relacionadas para cada una de las regiones del país. De los 252 pacientes estudiados, 106 fueron de la región Occidental, 65 de la central y 81 de la región Este del país. Teniendo en cuenta el origen étnico de nuestra población, cabe esperar una heterogeneidad elevada de la fibrosis quística. Las mutaciones más frecuentes detectadas están distribuidas de forma general por toda la isla, en relación con el impacto de los genes europeos, africanos y nativo-americanos, así como en dependencia de la migración entre las diferentes regiones del país…(AU)

Implementación del diagnóstico molecular de la deficiencia de la alfa-1-antitripsina en Cuba / Alpha 1-antitrypsyn deficiency molecular diagnosis implementation in Cuba

La deficiencia de alfa-1-antitripsina es una enfermedad hereditaria con un patrón de herencia autosómico recesivo. La frecuencia génica reportada en Cuba en la década del año 70 es de 0,022 y 0,019 para las mutaciones Z y S respectivamente, que son las mutaciones más frecuentes. Los síntomas, respiratorios y/o hepáticos, asociados a estas son severos y considerados la segunda causa de transplante hepático en niños. Se presentan los resultados de la estandarización de la técnica de PCR para la detección de las mutaciones S y Z y de la implementación en Cuba de la detección de estas mutaciones asociadas a la deficiencia de alfa-1-antitripsina. Se presentan los resultados del estudio de 24 muestras de pacientes con diagnóstico clínico de la enfermedad y 10 controles sanos, donde se detectaron siete alelos S y un alelo Z, lo que demuestra la capacidad de la técnica para detectar todos los alelos posibles…(AU)

Relationship between erectile dysfunction and silent myocardial ischemia in type 2 diabetic patients with no known macrovascular complications.

INTRODUCTION: Erectile dysfunction (ED) is associated with cardiovascular disease (CVD) because it is highly prevalent among those with cardiovascular risk factors (CVRFs). Moreover, it precedes the development of CVD and is considered a subrogate marker of subclinical CVD. AIM: The aim of this study was to evaluate the presence of ED among patients with type 2 diabetes (DM2) without macroangiopathy, and to assess the association between ED and other CVRFs, chronic diabetes complications, silent myocardial ischemia (SMI), and peripheral arterial disease (PAD). METHODS: One hundred fifty-four male patients with DM2 and without clinical evidence of CVD were included in the study. The presence of ED, PAD, SMI, chronic diabetic complications, and other CVRFs was evaluated in these patients. MAIN OUTCOME MEASURES: PAD; SMI; ED; 24-hour blood pressure Holter; lipid profile; insulin resistance; testosterone; chronic inflammation; nephropathy; retinopathy; neuropathy. RESULTS: Prevalence of ED was 68.2%. Patients with ED were older and characterized by DM2, systolic blood pressure (BP), retinopathy, and insulin treatment of longer duration than patients without ED, even when adjusting for age was performed. Adjusting for duration of diabetic condition revealed significant differences in age and systolic BP. Independent factors for ED were age (57.7±7.5 years, relative risks [RR 1.1], P=0.003) and duration of diabetes (9[3-15] years, RR 1.1, P=0.006). SMI was detected in 13.6% of patients (18.1% in patients with ED vs. 4.1% in patients without ED). Asymptomatic PAD was detected in 13.2% of subjects (14.4% in patients with ED vs. 10.4% in patients without). CONCLUSIONS: ED is highly prevalent in DM2, and is associated with the presence of SMI, higher systolic BP and chronic microvascular diabetic complications.

Estudio familiar de las hemofilias A y B: 5 años de experiencia en la detección de portadoras / Family study of hemophilia A and B: 5 years of experience in carrier detection

La hemofilia se caracteriza por ser una enfermedad congénita del trastorno de la coagulación y constituye un desorden recesivo ligado al cromosoma X. El estudio molecular se realiza por estudios indirectos por ser causada por mutaciones heterogéneas en los genes del FVIII y FIX. Se realizó el estudio de 40 familias afectadas con hemofilia A (HA) y 10 hemofilia B (HB). La extracción de ADN se realizó por el método de precipitación salina a 293 muestras de sangre y 19 de líquido amniótico, y se hizo el análisis de los polimorfismos St14, Bcl I y Hind III para la HA y Taq I, Xmn I y Dde I para la HB. Se usó la técnica de PCR. En el caso de la HA se obtuvo el 35 por ciento de informatividad para St14 y Hind III y 32,5 para Bcl 1. El polimorfismo Dde I fue el más informativo para la HB con el 33 por ciento; mientras que Taq I representó el 10 por ciento de informatividad y XmnI el 0 por ciento. Se comprobó que de las 40 familias analizadas con HA, 23 fueron informativas. Por otra parte, fueron informativas 4 familias de las afectadas con HB. Se realizaron 19 diagnósticos prenatales con previa determinación del sexo fetal, incluidos 3 varones enfermos(AU)

Hemophilia is a congenital disease of coagulation disorder and it is a recessive disorder linked to X-chromosome. The molecular study is conducted by indirect studies due to it is caused by heterogeneous mutations in gen of FVIII and FIX in 40 families with hemophilia A (HA) and 10 with hemophilia B (HB). DNA extraction was carried out by saline precipitation method in 293 blood samples and 19 samples of amniotic fluid, as well as the analysis of St14, Bcl I and Hind III polymorphism for the AH and Taq I, Xmn I and Dde I for BH. The PCR technique was used. In the caser of AH it was possible to achieve a 35 percent of information for St14 and Hind III and a 32.5 percent for Bcl. Dde polymorphism supplied more information for BH for a 33 percent; whereas the Taq I represented the 10 percent of information and Xmn I the 0 percent. We verified that from the families analyzed with HA, in 23 of them we there was information. Besides, in 4 families affected by HB there was information. A total of 19 prenatal diagnoses were made with a previous determination of fetus sex, including 3 males ill(AU)

Estudio familiar de las hemofilias A y B: 5 años de experiencia en la detección de portadoras / Family study of hemophilia A and B: 5 years of experience in carrier detection

La hemofilia se caracteriza por ser una enfermedad congénita del trastorno de la coagulación y constituye un desorden recesivo ligado al cromosoma X. El estudio molecular se realiza por estudios indirectos por ser causada por mutaciones heterogéneas en los genes del FVIII y FIX. Se realizó el estudio de 40 familias afectadas con hemofilia A (HA) y 10 hemofilia B (HB). La extracción de ADN se realizó por el método de precipitación salina a 293 muestras de sangre y 19 de líquido amniótico, y se hizo el análisis de los polimorfismos St14, Bcl I y Hind III para la HA y Taq I, Xmn I y Dde I para la HB. Se usó la técnica de PCR. En el caso de la HA se obtuvo el 35 por ciento de informatividad para St14 y Hind III y 32,5 para Bcl 1. El polimorfismo Dde I fue el más informativo para la HB con el 33 por ciento; mientras que Taq I representó el 10 por ciento de informatividad y XmnI el 0 por ciento. Se comprobó que de las 40 familias analizadas con HA, 23 fueron informativas. Por otra parte, fueron informativas 4 familias de las afectadas con HB. Se realizaron 19 diagnósticos prenatales con previa determinación del sexo fetal, incluidos 3 varones enfermos

Hemophilia is a congenital disease of coagulation disorder and it is a recessive disorder linked to X-chromosome. The molecular study is conducted by indirect studies due to it is caused by heterogeneous mutations in gen of FVIII and FIX in 40 families with hemophilia A (HA) and 10 with hemophilia B (HB). DNA extraction was carried out by saline precipitation method in 293 blood samples and 19 samples of amniotic fluid, as well as the analysis of St14, Bcl I and Hind III polymorphism for the AH and Taq I, Xmn I and Dde I for BH. The PCR technique was used. In the caser of AH it was possible to achieve a 35 percent of information for St14 and Hind III and a 32.5 percent for Bcl. Dde polymorphism supplied more information for BH for a 33 percent; whereas the Taq I represented the 10 percent of information and Xmn I the 0 percent. We verified that from the families analyzed with HA, in 23 of them we there was information. Besides, in 4 families affected by HB there was information. A total of 19 prenatal diagnoses were made with a previous determination of fetus sex, including 3 males ill

Testosterone levels in males with type 2 diabetes and their relationship with cardiovascular risk factors and cardiovascular disease.

INTRODUCTION: One of the factors involved in type 2 diabetes in males is a reduction in levels of testosterone, which has been shown to predict resistance to insulin and the development of cardiovascular diseases. AIM: To assess the levels of testosterone in patients with type 2 diabetes and to evaluate their relationship with cardiovascular risk factors, peripheral arterial disease (PAD) and silent myocardial ischemia (SMI). METHODS: Total testosterone and sex hormone binding globulin were measured and free and bioavailable testosterones were calculated using Vermeulen's formula. Levels of total testosterone > or = 12 nmol/L or free testosterone > 225 pmol/L were considered normal. PAD was evaluated using the ankle-brachial index. SMI was assessed using a baseline ECG, Doppler echocardiogram, 24-hour electrocardiogram (ECG) Holter, exercise stress testing (EST), nuclear stress (if EST inconclusive), and if the result was positive, a coronary angiography. MAIN OUTCOME MEASURES: PAD, SMI, testosterone, erectile dysfunction, 24-hour blood pressure Holter, body mass index (BMI), waist circumference, lipid profile, insulin resistance, chronic inflammation, United Kingdom Prospective Diabetes Study cardiovascular risk score, nephropathy, retinopathy, and neuropathy. RESULTS: The study population was composed of 192 diabetic males with a mean age of 56.1 +/- 7.8 years and without a history of vascular disease. Twenty-three percent presented total testosterone below normal and 21.8% presented low free testosterone. BMI, waist circumference, neuropathy, triglycerides, C-reactive protein (CRP), glucose, insulin, and HOMA-IR were found to be significantly incremented with respect to subjects with normal testosterone. There was a negative correlation of HOMA-IR with total testosterone. PAD was detected in 12% and SMI in 10.9% of subjects, and differences were not related to testosterone levels. CONCLUSIONS: We have verified the prevalence of low testosterone levels in male patients with type 2 diabetes and have related them to variations in BMI, waist circumference, neuropathy, triglycerides, CRP, glucose, insulin and HOMA-IR, but not with an increase of SMI or PAD.