Prediction of embryo survival and live birth rates after cryotransfers of vitrified blastocysts.

RESEARCH QUESTION: Which pre-vitrification parameters are the most predictive of survival and live birth in vitrified-warmed blastocyst transfer cycles? DESIGN: A retrospective study including 11,936 warmed blastocysts. Pre-vitrification morphological parameters analysed for blastocysts included day of vitrification; blastocyst expansion degree; trophoectoderm grade (A, B and C); and inner cell mass grade (A, B and C). Univariate and multivariate generalized estimating equations models were used to analyse survival, clinical pregnancy and live birth rate. A stepwise regression analysis was conducted to select and classify by order which outcomes were the most predictive. RESULTS: The odds of survival increased almost twice for blastocysts with lower expansion degree (OR 1.92; 95% CI 1.37 to 2.69; P < 0.001) and by about 50% for blastocysts vitrified on day 5 (OR 1.56; 95% CI 1.27 to 1.89; P < 0.001). Multivariate generalized estimating equations model showed that trophectoderm grade followed by the day of vitrification were the most significant predictors of live birth. The odds of live birth increased nearly three times for blastocysts with trophectoderm graded as A compared with those with trophectoderm graded as C (OR 2.85; 95% CI 2.48 to 3.27; P < 0.001), and double for blastocysts vitrified on day 5 compared with those vitrified on day 6 (OR 2.22; 95% CI 1.97 to 2.49; P < 0.001). The odds of live birth also increased in higher expansion degree blastocysts. CONCLUSIONS: Blastocysts vitrified on day 5 and those with higher trophoectoderm grade should be given priority when warming.

«Consultas sagradas» en atención primaria: ¿qué suponen para el personal médico? / "Sacred encounters" in primary care: What do they mean for family physicians?

OBJETIVO: Conocer las percepciones y actitudes de profesionales médicos de familia (MF) ante consultas con gran componente emocional, denominadas inicialmente «consultas sagradas», e identificar ámbitos de mejora en su atención. DISEÑO: Metodología cualitativa con enfoque sociosubjetivo orientado a los servicios de salud. Estudio descriptivo-interpretativo. Emplazamiento: Centros de salud de Araba y Bizkaia. Participantes y/o contextos: Selección de 23 MF de 23 centros de salud urbanos y rurales. MÉTODO: Muestreo intencional buscando la diversidad discursiva. Datos generados en 2016 mediante 3 grupos de discusión y 3 entrevistas individuales grabadas y transcritas tras consentimiento informado. Presentación al Comité de Ética de Euskadi. Análisis temático con ayuda de mapas conceptuales y programa MaxQDA. Triangulación de los resultados entre investigadores y verificación por los participantes. Resultados y discusión: Los hallazgos se agruparon en áreas temáticas solapadas entre sí y relacionadas con el significado de dichas consultas, actitudes profesionales, contexto sanitario y pacientes. Se subraya la importancia de lo emocional en las consultas de atención primaria y su invisibilización, pero se cuestiona la idoneidad del término «sagradas». Su expresión se construye en la interrelación MF-paciente si el personal médico lo favorece y el paciente lo permite, discutiéndose las principales circunstancias que intervienen en una dimensión considerada clave de la integralidad de la atención. CONCLUSIONES: La atención a la dimensión emocional en la consulta presenta deficiencias que es necesario subsanar. Además de su reconocimiento y evaluación, sería preciso modificar los factores organizativos, formativos y profesionales que condicionan la implicación del personal MF en su buena asistencia

OBJECTIVE: To determine the perceptions and attitudes of the general practitioners (GP) towards consultations with great emotional component, initially called "sacred encounters", and to identify areas of improvement. DESIGN: A qualitative methodology based on a socio-subjective approach and focused on health services research. Descriptive-interpretative study. LOCATION: Health Centres of Alava and Biscay. Participants Selection of 23 GP from 23 urban and rural Health Centres. METHOD: Intentional sampling aimed at looking for discursive diversity. Data generated in 2016 by means of 3 discussion groups and 3 individual interviews recorded and transcribed after informed consent. Presentation to the ethics committee of the Basque Country. Thematic analysis with the aid of conceptual maps and MaxQDA program. Triangulation of the results between researchers and verification by the participants. Results and discusión: The findings were clustered into overlapping thematic areas related to the meaning of these encounters, attitudes of GP, health context, and patients. The importance of the emotions in primary care encounters and their invisibility is underlined, but the adequacy of the term "sacred" is questioned. This expression is built into the GP-patient relationship, if GP favours it and the patient also allows it, discussing the main circumstances that intervene in an essential dimension of integral care. CONCLUSIONS: The attention to the emotional dimension in the encounters has deficiencies that need to be corrected. In addition to its recognition and evaluation, it would be necessary to modify the organisational, training and professional factors that determine the involvement of the GPs in their good health care

[]"Sacred encounters" in primary care: What do they mean for family physicians?] / «Consultas sagradas¼ en atención primaria: ¿qué suponen para el personal médico?

OBJECTIVE: To determine the perceptions and attitudes of the general practitioners (GP) towards consultations with great emotional component, initially called "sacred encounters", and to identify areas of improvement. DESIGN: A qualitative methodology based on a socio-subjective approach and focused on health services research. Descriptive-interpretative study. LOCATION: Health Centres of Alava and Biscay. PARTICIPANTS: Selection of 23 GP from 23 urban and rural Health Centres. METHOD: Intentional sampling aimed at looking for discursive diversity. Data generated in 2016 by means of 3 discussion groups and 3 individual interviews recorded and transcribed after informed consent. Presentation to the ethics committee of the Basque Country. Thematic analysis with the aid of conceptual maps and MaxQDA program. Triangulation of the results between researchers and verification by the participants. RESULTS AND DISCUSSION: The findings were clustered into overlapping thematic areas related to the meaning of these encounters, attitudes of GP, health context, and patients. The importance of the emotions in primary care encounters and their invisibility is underlined, but the adequacy of the term "sacred" is questioned. This expression is built into the GP-patient relationship, if GP favours it and the patient also allows it, discussing the main circumstances that intervene in an essential dimension of integral care. CONCLUSIONS: The attention to the emotional dimension in the encounters has deficiencies that need to be corrected. In addition to its recognition and evaluation, it would be necessary to modify the organisational, training and professional factors that determine the involvement of the GPs in their good health care.

[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis]. / Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa.

BACKGROUND: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. AIM: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. MATERIAL AND METHODS: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. RESULTS: The average ages for early symptoms' onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. CONCLUSIONS: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.

Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa / Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis

Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. Aim: To identify and hierarchize initial clinical signs of CTX to establish an early diagnostic suspicion index. Material and Methods: Clinical information was collected from 387 patients diagnosed with CTX, published in MEDLINE between 1968 and 2016. Clinical manifestations were identified, determining their prevalence and age of onset. Sensitivity, specificity and the positive Likelihood ratio (LR+) was calculated for each clinical sign evaluated. Results: The average ages for early symptoms' onset and CTX diagnosis were 13.3 ± 10.6 years and 34.6 ± 12.6 years respectively. The early clinical signs and their respective LR+ were: juvenile cataracts (143), epilepsy (81), chronic diarrhea (15.6) and psychomotor development delay (3.4). The presence of consanguinity among parents resulted in a LR+ of 31. The combination of two early signs increased the post-test probability to 30%. If the early diagnostic criteria would have been applied in three Chilean patients with diagnosis of CTX, their disease would have been diagnosed from 12 to 25 years earlier. Conclusions: The use of a hierarchical system of predictive clinical signs allows an early screening of CTX, which may avoid the natural progression of the disease using an appropriate treatment.

Diabetes mellitus por mutación en el gen de glucokinasa: caso clínico / Diabetes mellitus caused by a mutation of glucokinase gene: report of an affected family

Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.

[Diabetes mellitus caused by a mutation of glucokinase gene. Report of an affected family]. / Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico.

Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. The knowledge of the molecular diagnosis allowed an adequate medical treatment for this disease.

Cortisol y amilasa salival en niñas: variación según la curva diurna, la ingesta de alimentos y la actividad física / Diurnal variation of salivary cortisol and alpha amylase levels in normal girls: effects of meals and physical exercise

Salivary cortisol levels and saliva alpha-amylase enzymatic activity are non-invasive markers of hypothalamic-pituitary-adrenal axis and autonomic nervous system related to stress, which could be associated with excessive energy intake in response to stressors. Aim: To describe the diurnal variation of salivary cortisol levels and á-amylase activity in prepubertal girls and to assess their change after meals and physical activity episodes. Subjects and Methods: Nine normal-weight girls aged 8 to 10 years were monitored for 14 hours, from 6:00 AM to 20:00 h. Three standardized meals were administered across the day with a controlled sport competition performed at the end of the day. Saliva samples were drawn upon awakening, 30 min after awakening, before and after lunch, before and after dinner, and before-after the controlled episode of physical activity. Results: A decreasing salivary cortisol diurnal pattern was confirmed, with an initial increase occurring 30 minutes after waking up. An ascending diurnal pattern was observed for salivary amylase activity. Meals significantly increased cortisol levels, with a non-significant trend to increase amylase activity. The magnitude of physical activity during acute exercise was associated with increased salivary amylase activity (rho = 0.84; P <0.01). Cortisol levels were positively correlated with body mass index z scores (rho = 0.87; P <0.01). Conclusions: We confirmed the existence of a diurnal pattern of salivary cortisol levels and á-amylase activity in saliva that is modulated by diet and exercise. Our preliminary results also show that salivary cortisol might be related with body weight...

Perfil lipídico en mujeres embarazadas sanas de tres regiones de Chile / Lipid profile in healthy pregnant women in three regions of Chile

Antecedentes: Los lípidos plasmáticos maternos durante el embarazo pueden influir en el crecimiento fetal, particularmente en pacientes con diabetes gestacional; estos lípidos cambian su concentración plasmática materna a lo largo de la gestación. Objetivo: Calcular tablas y curvas de lípidos normales según edad gestacional en una población de embarazadas chilenas. Método: Se midió el colesterol total (CT), colesterol LDL (LDL-C) triglicéridos (TG), Colesterol-HDL (HDL-C), y ácidos grasos no esterificados (NEFA), en 94 embarazadas sanas y jóvenes (<33 años, edad media de 27,6 +/- 6,2 años), con peso pregestacional normal (Índice de Masa Corporal entre 20 y 24,9 Kg/m2 y medio de 23,3 +/- 2,0 Kg/m2). Las pacientes provenían de: Hospital Parroquial de San Bernardo, Santiago (n=55), Hospital de Talca (n=2); Hospital del Profesor, Santiago (n=18); Hospital Regional de Concepción (n=9) y Hospital Clínico de la Pontificia Universidad Católica de Chile (n=10). Resultados: Calculamos, para cada uno de los cuatro lípidos, las curvas de percentil 50, percentil 90 y percentil 10, en mg/dL y mmol/l. Los NEFA solo fueron expresados en mmol/l. Incluimos las funciones matemáticas de las curvas de regresión polinomial de los cuatro lípidos con el fin que sean fácilmente reproducibles en otros tamaños. Conclusiones: Calculamos las tablas y curvas de lípidos maternos normales a lo largo del embarazo, que sean aplicables a la población de embarazadas chilenas.

Background: In normal human pregnancy, maternal lipids can modify the rate of fetal growth, particularly in pregnancies with Gestational Diabetes Mellitus (GDM). These lipids change continuously their serum concentration in the mother along the pregnancy. Aim: To calculate tables and curves of normal serum lipids, according to gestational age, in healthy Chilean pregnant women. Methods: We measured total cholesterol (CT), LDL-cholesterol (LDL-C), triglycerides (TG), HDL-Cholesterol (HDL-C), and Non-Esterified Fatty Acids (NEFA) in 94 young and healthy pregnant women (< 33 years, mean age 27.6 +/- 6.2 years), with normal pregestational Body Mass Index (BMI, 20.0-24.9 Kg/m2 , mean value= 23.3 +/- 2.0 Kg/m2). The women of the study were patients of 5 hospitals: Hospital Parroquial de San Bernardo, Santiago (n=55), Hospital de Talca (n=2); Hospital del Profesor, Santiago (n=18); Hospital Regional de Concepción (n=9) and Hospital Clínico de la Pontificia Universidad Católica de Chile (n=10). Results: For each one of the lipids, we calculated curves of 50th, 90th and 10th percentiles, both in mg/dL and mmol/L (the NEFA were expressed only in mmol/L). The mathematical functions of the curves of polynomial regression of all lipids were included in the manuscript, in order to facilitate their reproduction. Conclusions: We calculated tables and curves of normal maternal serum lipids in relation to gestational, in order to make these available for use in the care of Chilean pregnant women.

Genética de la diabetes mellitus tipo 1 / Genetic of type 1 diabetes mellitus

Type 1 diabetes (T1D) results from autoimmune-mediated destruction of the pancreatic beta cells, a process that is conditioned by multiple genes and environmental factors. The process that destroys the pancreatic b cells in T1D is mediated by T cells and leads to a complex phenotype influenced by multiple factors. It has been more than 30 years since the publication of the first evidence suggesting the involvement of a specific chromosomal region, HLA, in modulating the risk for T1D. HLA locus has been known for decades to contribute strongly with the attributable to genetic risk. In addition to HLA, many proposed candidate loci have been described that are associated with risk of developing the disease, including the insulin gene (INS), PTPN22,CTLA-4, PD-1, IL2-RA and IFIH1 which together do not contribute more than 15 percent of the risk. This review compiled the data on T1D genes and discusses the major genetic impact of these genetic aspects in T1D etiology.

Validación factorial de un cuestionario para medir la conducta de comer en ausencia de hambre y su asociación con obesidad infantil / A questionnaire to measure eating behavior in the absence of hunger and its association with childhood obesity

Background: It has been observed that some psychological factors tend to stimulate food intake in the absence of hunger in obese children. objective: To evaluate whether obese children have a greater tendency to eat in the absence of hunger, in response to various emotional and environmental factors versus normal weight children. subjects and Methods: Obese patients were selected according to NCHS/CDC2000 (n = 49 and n = 99 for non-obese children), males and females in the age group of 6-12 years who consulted in the UC health network and also children that were evaluated in schools located in southeastern Santiago. The questionnaire "Eating in the absence of hunger" was used, which measures three subscales: external stimuli, fatigue/boredom and negative feelings. results: Factor analysis showed a significant degree of overlap between the "fatigue/boredom" and "negative feelings" subscales. Obese children had higher scores on "external stimuli" versus normal weight children (median 2.7 compared to 1.7, p < 0.001). In the "fatigue/boredom" subscale, scores of 2.5 versus 1.2 (p < 0.001) were obtained, while in "negative feelings", scores reported 2.0 versus 1.2 (p = 0.0013). Conclusions: Obese patients reported higher scores on the questionnaire "Eating in the absence of hunger" than non-obese children, identifying modifiable and educable stimuli that could prevent this eating behavior.

Introducción: Se ha observado que en los niños obesos, algunos factores psicológicos tienden a estimular la ingesta de alimentos en ausencia de hambre. objetivo: Evaluar si los niños obesos presentan mayor tendencia a comer en ausencia de hambre, en respuesta a distintos factores emocionales y ambientales, en comparación con niños normopeso. Pacientes y Método: Se seleccionaron pacientes obesos según NCHS/CDC2000 (n = 49) y normopeso (n = 99) de ambos sexos y con edades entre 6-12 años, que consultaron en forma espontánea en la Red de Salud UC y niños evaluados en colegios del sector suroriente de Santiago. Se aplicó el cuestionario "Comer en ausencia de hambre" que mide tres subescalas: Estímulos externos, cansancio/aburrimiento y sentimientos negativos. resultados: El análisis factorial reveló un importante grado de solapamiento entre las ponderaciones de las subescalas "cansancio/aburrimiento" y "sentimientos negativos". Los niños con obesidad presentaron mayores puntajes en la dimensión "estímulos externos" que los niños normopeso (mediana de 2,7 versus 1,7; p < 0,001). En "cansancio/aburrimiento" se obtuvieron puntajes de 2,5 versus 1,2 (p < 0,001) mientras que en "sentimientos negativos" los puntajes fueron 2,0 versus 1,2 (p = 0,0013). Conclusiones: Los pacientes obesos presentaron mayores puntajes en la encuesta alimentaria "Comer en ausencia de hambre" que los niños normopeso, pudiendo identificarse estímulos modificables y educables que podrían prevenir esta conducta alimentaria.

Biologicals and switch in rheumatoid arthritis throughout time - are we being more aggressive?

OBJECTIVES: To investigate the switches performed in patients with rheumatoid arthritis under biological therapy and specifically comparing the switches from earlier days with more recent switches. PATIENTS AND METHODS: Patients with rheumatoid arthritis under biological therapy followed at Hospital Garcia de Orta, Almada, and included in the Rheumatic Diseases Portuguese Register (Reuma.Pt) were included in this study. Switches occurring before and after January 2007 were compared with respect to patients' demographic and clinical characteristics, such as disease activity and duration of biological therapy. The survival of the first biological agent was compared between patients starting biological therapy before and after 2007. EULAR response and remission rate at the last evaluation were calculated. Comparisons between groups were established using a t-test or chi--square, as appropriate. Survival curves of the first biological were compared through the logrank test. RESULTS: In total, 123 patients were included in the analysis (mean age 57.0 ± 13.1 years and mean disease duration 11.7 ± 8.0 years). A total of 85 switches were documented, 20% of which took place before 2007. Comparing the switches before and after 2007, the latter were registered among older patients (recent switches 56.2 ± 12.9 years vs older switches 48.9 ± 11.0 years, p=0.04) and with a shorter duration of the first biological agent (recent switches 461.9 ± 293.2 days vs older switches 773.7 ± 475.8 days, p=0.03). No further significant differences were found, including the disease activity. The survival of the first biological was shorter in patients starting biological therapy after 2007 (2949 days for biological onset before 2007 and 818 days for onset after 2007, p <0.001). A good EULAR response was achieved by 19% and 30% of the patients, before and after 2007, respectively (p = 0.23). Remission was achieved by 14% and 22% of the patients, before and after 2007, respectively (p = 0.30). CONCLUSIONS: Switches were more frequently performed in more recent years, in older patients and with a shorter duration of biological therapy. A trend towards a better and more targeted control of the disease could be discussed in light of our results. Although switches were more frequently performed in more recent years, in older patients and with a shorter duration of biological therapy, there is still room for improvement when aiming at remission, for example by applying a tighter therapy strategy like the "treat to target model".

Hipertrigliceridemias de origen genético / Hypertriglyceridemias of genetic origen

Hypertriglyceridemia (HTG) is defined as plasma triglycerides (TG) > 150 mg/dL, and it is a frequent disease in the general population. When plasma TG reach concentrations > 500 mg/dL (severe HTG), there is usually a genetic defect involved. This defect can involve a single gene or be of polygenic inheritance. In polygenic HTG, the phenotypic expression of the disease is usually associated to the presence of certain diseases such as diabetes, obesity or insulin resistance. The most common known genes associated with monogenic hypertriglyceridemia are LPL and APOC2, but in recent years a few cases caused by mutant APOA5, GPIHBP1 and LMF1, have been identified. Furthermore, genome wide association studies (GWA) have brought up new genes that are related to discrete changes in triglyceride plasma levels of the general population. Among them, it is worth mentioning GCKR, TRIB1, MLXIPL, GALNT2, APOB, APOC2, APOA5, APOE, LPL, ANGPTL3 and NCAN. It is remarkable that most severe hypertriglyceridemias are of polygenic origin, and they could involve a major susceptibility gene. Only in a few cases of severe or very severe HTG (TG > 2.000 mg/dL) the genetic cause is known.

NMR metabolic profile of human follicular fluid.

The environment of the oocyte during its in vivo maturation consists of follicular fluid (FF) and is surrounded by granulosa cells. The FF is derived from the sanguineous plasma and secretions, synthesised in the follicle wall, that contain a large variety of growth factors, cytokines, amino acids, and other metabolites. These metabolites are presumably involved in the physiology of the oocyte. The identification, quantification and study of FF metabolites can provide additional information about the oocyte state which can be helpful in distinguishing those oocytes that have a greater capacity to be fertilised and to develop properly. The aim of this work is to identify the metabolic profile of FF samples exhaustively using High Resolution Nuclear Magnetic Resonance (NMR). A total of 30 FF samples from oocyte donors (<35 years) were analysed. Different monodimensional (1D) and bidimensional (2D) (homo and heteronuclear) NMR experiments were acquired. A total of 131 chemical shifts were assigned and 42 metabolites, including as example glucose, lactate, acetate, acetoacetate, pyruvate and beta-hydroxybutyrate, were identified. High correlations were found between these important intermediaries of the energetic metabolic pathways of the follicle which can indicate the importance of these pathways in oocyte development. Some of these identified metabolites might be useful as biomarkers of the follicular maturation state, allowing oocytes with a higher fertilisation potential to be selected, thereby increasing pregnancy rates in women following in vitro fertilisation (IVF) treatments.

Percepción del riesgo de contraer una enfermedad de transmisión sexual en población joven / Perception of the risk of adquire a sexually transmitted disease in a young population

Objetivo: Conocer la percepción del riesgo de contraer una enfermedad de transmisión sexual (ETS) en jóvenes de 15–21 años y sus actitudes y sus conductas para adoptar medidas protectoras en las relaciones sexuales. Diseño: Estudio cualitativo de tipo socio constructivista realizado entre 2006–2008.EmplazamientoDos centros de atención primaria de la ciudad de Girona. Participantes: Treinta y cuatro jóvenes seleccionados de listados proporcionados por médicos e informantes clave. Métodos: Muestreo teórico a partir de diferentes perfiles diseñados. Los datos se obtuvieron y se saturaron con la realización de 5 entrevistas grupales. Se realizó un análisis de contenido categorial temático del corpus narrativo. Resultados: Tienen conocimientos parciales sobre sida y escasos sobre otras ETS. El riesgo de embarazo es lo que más influye en la adopción de conductas protectoras. A pesar del buen acceso y el conocimiento del preservativo, en algunos casos no lo usan ni en parejas estables, ni en parejas esporádicas con diferentes justificaciones para realizar estas conductas de riesgo. Tienen muy poco contacto con los servicios sanitarios, la mayoría de las veces para pedir la anticoncepción de emergencia. Conclusiones_ Las estrategias sanitarias deberían encaminarse al acercamiento a los adolescentes de acuerdo con lo que necesitan de los servicios sanitarios en relación con la salud sexual en un contexto diferente del centro de salud. La información debería centrarse en combatir creencias erróneas, como que el sida es una enfermedad de “otros” y no “nuestra”, y focalizar estas actuaciones no sólo en mejorar conocimientos y actitudes, sino en cambios de conducta (AU)

Objective: To find out the perception of the risk of adquire a sexually transmitted disease (STD) in young people (15–21 years), and their attitudes and behaviour to adopt protective measures in sexual relationships. Design: Socio-constructive qualitative study performed between the years 2006 and 2008SettingTwo Primary Care Centres in the city of Girona. Participants: A total of 34 young people selected from lists provided by doctors and key informers. Methods: Theoretical sample from different designed profiles. The data was obtained and saturated by performing 5 group interviews. A thematic content analysis of the narrative data was made of the categorical subject. Results: They had partial knowledge on AIDS and very little on other STD. The risk of pregnancy has the most influence on adopting protective measures. Despite easy access and knowledge of condoms, in some cases they are not used either in stable relationships or in sporadic ones, with different reasons for having this risk behaviour. They have limited contact with the health services, and when they do it is mainly to ask for emergency contraception. Conclusions: Health strategies should be directed towards adolescents, taking into account what they need from the health services as regards sexual health, in a different context from the health centre. Information should be focused on combating erroneous beliefs, such as AIDS is a disease of “others” and not “ours”, and address these actions, not only to improve knowledge and attitudes but also changes in behavior (AU)

[Leptin-melanocortin system, body weight regulation and obesity]. / Sistema leptina-melanocortinas en la regulación de la ingesta y el peso corporal.

Obesity is a multifactorial disease that is rarely associated to single gene defects. However, due to their direct cause-effect relationships, those genetic defects that cause some forms of monogenic obesity are relevant in the study of mechanisms that contribute to increased energy intake and body fat accumulation. Most of the genes that have been shown to cause monogenic obesity are related to the leptin-melanocortin system. The functionality of this system has been elucidated through natural mutations (Agouti, ob and db) in mice and knock-out models. Mutations related to human monogenic obesity have been described in leptin, leptin receptor, proopiomelanocortin, prohormone convertase 1 or melanocortin receptor 4 genes. Therapy with human recombinant leptin in patients with genetic deficiency of the hormone is an effective medical treatment of obesity, although only applicable to very few families. The use of leptin-melanocortin agonists, drugs to avoid leptin resistance or combinations of treatments with leptin and other satiating peptides are currently being investigated for multifacotiral human obesity.

Sistema leptina-melanocortinas en la regulación de la ingesta y el peso corporal / Leptin-melanocortin system, body weight regulation and obesity

Obesity is a multifactorial disease that is rarely associated to single gene defects. However, due to their direct cause-effect relationships, those genetic defects that cause some forms of monogenic obesity are relevant in the study of mechanisms that contribute to increased energy intake and body fat accumulation. Most of the genes that have been shown to cause monogenic obesity are related to the leptin-melanocortin system. The functionality of this system has been elucidated through natural mutations (Agouti, ob and db) in mice and knock-out models. Mutations related to human monogenic obesity have been described in leptin, leptin receptor, proopiomelanocortin, prohormone convertase 1 or melanocortin receptor 4 genes. Therapy with human recombinant leptin in patients with genetic deficiency of the hormone is an effective medical treatment of obesity, although only applicable to very few families. The use of leptin-melanocortin agonists, drugs to avoid leptin resistance or combinations of treatments with leptin and other satiating peptides are currently being investigated for multifacotiral human obesity (Rev Méd Chile 2009; 137:1225-34).

Estudio multivariado de la evolución de las dimensiones corporales en chilenas mayores de 60 años / Multivariate study of the evolution of body dimensions in elderly Chilean women

Con frecuencia en las investigaciones médicas se requiere analizar datos de tipo longitudinal que no pueden ser analizados por los métodos estadísticos clásicos de series cronológicas. El objetivo de este trabajo es presentar la factibilidad del uso del método exploratorio multivariado STATIS (Structuration des Tableaux A Trois Indices de la Statistique) en un estudio antropométrico de una muestra de 57 mujeres adultas mayores de 60 años (rango: 69-82 años) del Gran Santiago, Chile, que fueron estudiadas en 5 ocasiones durante un período de 30 meses. Las variables de interés son las mediciones antropométricas: peso, talla, circunferencia brazo, circunferencia pantorrilla, circunferencia cintura, circunferencia cadera, altura rodilla; medidas cada 6 meses. Las variables peso, circunferencia de brazo, circunferencia de pantorrilla, circunferencia de cintura y circunferencia de cadera, fueron las más correlacionadas con el primer eje de compromiso y responden fundamentalmente a medidas de composición corporal como adiposidad y masa muscular. El eje 2, caracterizado por la talla y la altura de rodilla, responde al tamaño del esqueleto. Los resultados obtenidos sugieren una evolución cronológica regular en los primeros 24 meses de observación, con un cambio de estructura a los 30 meses del estudio, así como una clasificación de grupos con diferente composición corporal.

Although in medical research the use of longitudinal data to analyze short time periods is frequently required, it does not permit the use of classic statistical methods for chronological series. The objective of this study is to present the possibility and plausibility of using the STATIS method (Structuration des Tableaux A Trois Indices de la Statistique), an explorative method for data analysis, in a study of the body composition of a sample of 57 women over 68 years of age in Santiago, Chile who were observed over a period of 30 months. The variables analyzed (measured every 6 months) were the following anthropometric measurements: weight, height, arm circumference, calf circumference, waist circumference, hip circumference and knee height. The results obtained suggested a regular chronological evolution during the first 24 months of observation with a change in structure after 30 months of the study, thereby classifying subjects according to body composition.

[Genotype-by-nutrition interaction: interpretation of epidemiological studies]. / Interacción entre genotipo y nutrición: interpretación de estudios epidemiológicos.

EpidemiologicaL methods are increasingly used to assess the role of genetic factors and their interaction with environmental factors, in the occurrence of diseases in populations. Nutrition is one of the most relevant components of the interaction between the human being and the environment. Therefore, the interaction between susceptibility genotypes and nutritional risk factors has a great importance in the study of several chronic diseases. The aim of this article is to review different epidemiologic study designs and basic methods of analysis commonly used in the evaluation of the interaction between nutritional and genetic factors. These study designs and analytical methods are equally valid for the assessment of genotype-environment or genotype-genotype interaction.