To transfer or not to transfer: the dilemma of mosaic embryos - a narrative review.

A frequent finding after preimplantation genetic diagnostic testing for aneuploidies using next-generation sequencing is an embryo that is putatively mosaic. The prevalence of this outcome remains unclear and varies with technical and external factors. Mosaic embryos can be classified by the percentage of cells affected, type of chromosome involvement (whole or segmental), number of affected chromosomes or affected cell type (inner mass cell, trophectoderm or both). The origin of mosaicism seems to be intrinsic as a post-zygotic mitotic error, but some external factors can play a role. As experience has increased with the transfer of mosaic embryos, clinical practice has gradually become more flexible in recent years. Nevertheless, clinical results show lower implantation, pregnancy and clinical pregnancy rates and higher miscarriage rates with mosaic embryo transfer when compared with the transfer of euploid embryos. Prenatal diagnosis is highly recommended after the transfer of mosaic embryos. This narrative review is intended to serve as reference material for practitioners in reproductive medicine who must manage a mosaic embryo result after preimplantation genetic testing for aneuploidies.

A Randomized Controlled Trial on the Effects of Leucine-Supplement Combined with Nutritional Counseling on Body Composition in Mix Cancer Older Men.

BACKGROUND: Malnutrition and metabolic alterations of cancer cachexia are often associated with negative weight loss and muscle mass wasting. In this sense, protein supplementation can be a strategy to help counteract the loss and/or maintenance of mass in these patients. The aim of this study was to evaluate the effect of leucine supplementation on body composition in outpatients with gastrointestinal tract cancer. METHODS: It was a randomized, blinded, controlled, parallel trial, performed in male patients with a cancer diagnosis of the gastrointestinal tract and appendix organs undergoing chemotherapy. All the patients were allocated to one of the protocol groups: L-leucine supplement or the control group, during 8 weeks of intervention. We evaluated the body composition through bioelectrical impedance analysis, the cancer cachexia classification, and the diet intake before and after the intervention protocol. The intention-to-treat approach was performed to predict the missing values for all patients who provide any observation data. RESULTS: The patients were an average age of 65.11 ± 7.50 years old. In the body composition analysis with patients who finished all the supplementation, we observed a significant gain in body weight (61.79.9 ± 9.02 versus 64.06 ± 9.45, p = 0.01), ASMM (7.64 ± 1.24 versus 7.81 ± 1.20, p = 0.02) in the Leucine group, whereas patients in the control did not present significant variation in these parameters. There was no significant intergroup difference. While in the analysis included the patients with intention-to-treat, we found a significant increase in body weight (p = 0.01), BMI (p = 0.01), FFM (p = 0.03), and ASMM (p = 0.01) in the Leucine group. No significant intergroup differences. These results also similar among cachectic patients. CONCLUSION: A balanced diet enriched with free-Leucine supplementation was able to promotes gains in body weight and lean mass in older men diagnosticated with gastrointestinal and appendix organs of digestion cancer after 8 weeks. However, the fact that most men are non-cachectic or pre-cachectic is not clear if the increase in muscle mass was due to a high intake of leucine, since no difference between groups was detected. Moreover, we know that benefits on body composition are due to adequate calorie and macronutrients consumption and that balanced feeding according to nutrition Guidelines seems crucial and must be advised during the oncological treatment.

Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition.

Harlequin ichthyosis (HI) is an extremely rare disease with a prevalence of less than 1/300 000 live newborns and no more than 100 cases reported worldwide. It corresponds to a genodermatoses autosomal recessive inheritance, typically, with postnatal recognition due to the complexity of prenatal diagnosis. Advances in prenatal genetic testing allow sequencing of the affected gene and confirmation of the diagnosis after recognition of ultrasound markers. The prenatal acknowledgement of the disease significantly marks the course of the pregnancy; considering the perinatal high risk and neonatal mortality, this entity can be classified as lethal. Taking into account the legislation of each country, the possibility of pregnancy termination should be considered as an acceptable option. We present a case of prenatally diagnosed HI in the first ultrasound evaluation by the Maternal Fetal Medicine unit at 29 weeks of gestation, in which after counselling to the parents, the interruption of the gestation was decided.

Balancing client preferences and population-level goals: a qualitative study of the ways in which public health providers and facility administrators interpret and incentivise quality of care in contraceptive counselling in Ethiopia, Mexico and India.

Recent work in family planning has shifted from an instrumentalist perspective on quality in contraceptive counselling, which views quality as a means to encourage contraceptive uptake, to privilege quality of care as a valued end in itself. In this context of shifting narratives about quality, it is important to understand how health systems and providers navigate potential conflicts between instrumentalist definitions of quality versus a person-centred definition that considers meeting clients' contraceptive needs and preferences as an important end goal in and of itself. However, we know little about how providers and other health system stakeholders interpret the concept of quality in counselling, and how their experiences with different quality monitoring systems influence their ability to provide person-centred care. This qualitative study draws from 51 in-depth interviews with public healthcare providers and health facility administrators in Ethiopia, Mexico and India. Across all three countries, except for some cases in India, administrators were concerned with encouraging uptake of contraceptives in order to meet local and national level goals on contraceptive uptake and maternal health. In contrast, providers were more concerned with responding to client desires and needs. However, participants across all levels shared the opinion that successful counselling should end with contraceptive uptake. We conclude that the instrumentalist view of quality counselling continues to prevail across all three countries. Our findings suggest that encouraging healthcare providers and administrators to meet even relatively broad targets set by government reinforces an instrumentalist approach, as opposed to an approach that privileges person-centred care.

Couple screening for recessively inherited disorders.

Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be screened as a single entity, instead of individual testing. Carrier testing was typically performed for a few relatively common recessive disorders associated with significant morbidity, reduced life expectancy and often because of a considerably higher carrier frequency in a specific population for certain diseases. However, new genetic testing technologies enable the expansion of screening to multiple conditions, genes and sequence variants. There are multiple reproductive options for screening couples at risk, particularly when genetic traits are detected in the preconception period.

Effectiveness of a minimally processed food-based nutritional counselling intervention on weight gain in overweight pregnant women: a randomized controlled trial.

PURPOSE: This study aimed at evaluating the effectiveness of a nutritional counselling intervention based on encouraging the consumption of unprocessed and minimally processed foods, rather than ultra-processed products, and the practice of physical activities to prevent excessive gestational weight gain in overweight pregnant women. METHODS: This was a two-armed, parallel, randomized controlled trial conducted in primary health units of a Brazilian municipality from 2018 to 2021. Overweight, adult pregnant women (n = 350) were randomly assigned to control (CG) or intervention groups (IG). The intervention consisted of three individualized nutritional counselling sessions based on encouraging the consumption of unprocessed and minimally processed foods rather than ultra-processed products, following the NOVA food classification system, and the practice of physical activities. The primary outcome was the proportion of women whose weekly gestational weight gain (GWG) exceeded the Institute of Medicine guidelines. Adjusted logistic regression models were employed. RESULTS: Complete data on weight gain were available for 121 women of the IG and 139 of the CG. In modified intention-to-treat analysis, there was a lower chance of the IG women having excessive GWG [OR 0.56 (95% CI 0.32, 0.98), p = .04], when compared to the CG. No between-group differences were observed for the other maternal outcomes investigated. CONCLUSION: The present study was unprecedented in demonstrating that nutritional counselling based on the NOVA food classification system, together with encouraging the practice of physical activity, is effective in preventing excessive weight gain in overweight pregnant women. TRIAL REGISTRATION: Registered on July 30th 2018 at Brazilian Registry of Clinical Trials (RBR-2w9bhc).

Fortificación domiciliaria con polvos de micronutrientes. Lineamientos técnicos para el personal de salud

Introducción: La fortificación domiciliaria de los alimentos con polvos de micronutrientes se considera una intervención efectiva para reducir la anemia por deficiencia de hierro y otras carencias en la población infantil. Objetivo: Establecer los lineamientos técnicos para el personal de salud en el nivel primario de atención, en apoyo a la suplementación con polvos de micronutrientes a niños y niñas entre 6 y 23 meses de edad. Métodos: Se conformó el equipo técnico. Se revisaron las formulaciones utilizadas en la región y experiencia acumulada en intervenciones realizadas en provincias orientales, además, se elaboró el documento sustentado en evidencia científica con base en las recomendaciones nutricionales en esta población. Resultados: El suplemento permitió la prevención de las carencias nutricionales debido a que lograban cubrir la brecha de su requerimiento. Estuvieron disponibles los lineamientos técnicos dirigidos al personal de salud en los diferentes niveles de atención para asegurar el éxito de la consejería nutricional a la familia cubana, y el uso adecuado del suplemento. Conclusiones: Este trabajo brinda elementos y orientaciones técnicas para la capacitación del personal de salud con el fin de socializar, divulgar y brindar herramientas técnicas en el uso del suplemento como una medida costo efectiva para la prevención de las deficiencias de micronutrientes.

Introduction: Home fortification of food with micronutrient powders is considered an effective intervention to reduce iron deficiency anemia and other deficiencies in the child population. Objective: To provide technical guidelines for health personnel at the primary healthcare level to support the supplementation of children between 6 and 23 months of age with micronutrient powders. Methods: The technical team was established. The formulations used in the region and the experience gained in interventions conducted in eastern provinces were reviewed. Moreover, a document on scientific evidence was prepared based on the nutritional recommendations for this population. Results: The supplement allowed the prevention of nutritional deficiencies as it could cover the gaps in their requirement. Technical guidelines directed to health personnel at different healthcare levels were available to ensure the success of nutritional counselling to the Cuban family, and the adequate use of the supplement. Conclusions: This work provides elements and technical guidelines for the training of health personnel to socialize, disseminate and provide technical tools in the use of the supplement as a cost-effective measure for the prevention of micronutrient deficiencies.

Cortical Reorganization Following Psychoeducational Counselling and Residual Inhibition Therapy (RIT) in Individuals with Tinnitus

Abstract Introduction Psychoeducational counselling and residual inhibition therapy (RIT) are traditional approaches used in many clinics to manage tinnitus. However, neurophysiological studies to evaluate posttreatment perceptual and functional cortical changes in humans are scarce. Objectives The present study aims to explore whether cortical auditory-evoked potentials (CAEPs; N1 and P3) reflect the effect of modified RIT and psychoeducational counselling, and whether there is a correlation between the behavioral and electrophysiological measures. Methods Ten participants with continuous and bothersome tinnitus underwent a session of psychoeducational counselling and modified RIT. Perceptual measures and CAEPs were recorded pre- and posttreatment. Further, the posttreatment measures were compared with age and gender-matched historical control groups. Results Subjectively, 80% of the participants reported a reduction in the loudness of their tinnitus. Objectively, there wasasignificant reductioninthe posttreatment amplitude of N1 and P3, with no alterations in latency. There was no correlation between the perceived difference in tinnitus loudness and the difference in P3 amplitude (at Pz). Conclusion The perceptual and functional (as evidenced by sensory, N1, and cognitive, P3 reduction) changes after a single session of RIT and psychoeducational counselling are suggestive of plastic changes at the cortical level. The current study serves as preliminary evidence that event-related potentials (ERPs) can be used to quantify the physiological changes that occur after the intervention for tinnitus.

Tutoría y proyecto formativo del alumnado universitario: la importancia de comenzar bien / Projeto de tutoria e formação para universitários: a importância de começar bem / Tutoring and training project for university students: the importance of starting well

En el artículo se analiza la importancia de la tutoría universitaria en la definición del proyecto formativo-profesional del alumnado. Empleando cuestionarios y entrevistas se registran y analizan las opiniones que 410 estudiantes de 4 promociones hicieron de los Planes de Orientación y Acción Tutorial. Los resultados confirman que los/as tutores/as son un referente importante para el alumnado y la tutoría una estrategia relevante de acompañamiento desde el momento en que inicia sus estudios y a lo largo de su trayectoria formativa. Se concluye que es necesario reforzar la institucionalización de la tutoría, promoviendo modelos activos, integrales e inclusivos de aprendizaje. Estos datos son relevantes para la práctica educativa y para la puesta en práctica de programas de orientación al alumnado.

O artigo analisa a importância da tutoria universitária na definição do projeto formativo-profissional do aluno. Por meio de questionários e entrevistas, foram registradas e analisadas as opiniões de 410 alunos de 4 promoções realizadas nos Planos de Orientação e Ação Tutorial. Os resultados confirmam que os tutores são uma importante referência para os alunos e a tutoria uma estratégia de apoio relevante desde o início dos estudos e ao longo da sua carreira escolar. Conclui-se que é necessário reforçar a institucionalização da tutoria, promovendo modelos de aprendizagem ativos, integrais e inclusivos. Esses dados são relevantes para a prática educacional e para a implementação de programas de orientação estudantil.

The article analyzes the importance of university tutoring in the definition of the student's training-professional project. Using questionnaires and interviews, the opinions that 410 students from 4 promotions made of the Orientation Plans and Tutorial Action were recorded and analyzed. The results confirm that tutors are an important reference for students and tutoring is a relevant support strategy from the moment they start their studies and throughout their educational career. It is concluded that it is necessary to reinforce the institutionalization of tutoring, promoting active, comprehensive and inclusive learning models. These data are relevant for educational practice and for the implementation of student orientation programs.

Cortical Reorganization Following Psychoeducational Counselling and Residual Inhibition Therapy (RIT) in Individuals with Tinnitus.

Introduction Psychoeducational counselling and residual inhibition therapy (RIT) are traditional approaches used in many clinics to manage tinnitus. However, neurophysiological studies to evaluate posttreatment perceptual and functional cortical changes in humans are scarce. Objectives The present study aims to explore whether cortical auditory-evoked potentials (CAEPs; N1 and P3) reflect the effect of modified RIT and psychoeducational counselling, and whether there is a correlation between the behavioral and electrophysiological measures. Methods Ten participants with continuous and bothersome tinnitus underwent a session of psychoeducational counselling and modified RIT. Perceptual measures and CAEPs were recorded pre- and posttreatment. Further, the posttreatment measures were compared with age and gender-matched historical control groups. Results Subjectively, 80% of the participants reported a reduction in the loudness of their tinnitus. Objectively, there was a significant reduction in the posttreatment amplitude of N1 and P3, with no alterations in latency. There was no correlation between the perceived difference in tinnitus loudness and the difference in P3 amplitude (at Pz). Conclusion The perceptual and functional (as evidenced by sensory, N1, and cognitive, P3 reduction) changes after a single session of RIT and psychoeducational counselling are suggestive of plastic changes at the cortical level. The current study serves as preliminary evidence that event-related potentials (ERPs) can be used to quantify the physiological changes that occur after the intervention for tinnitus.

Prepregnancy overweight and obesity as risk factors for birth defects: a cross-sectional study over a 30-year period.

Overweight and obesity are public health problems worldwide despite being modifiable conditions. The association between birth defects and pregestational maternal body mass index is not entirely clear. We aimed to assess the prevalence and estimate the risk of birth defects related to pregestational body mass index and other maternal factors. We explored a 30-year time series database in a cross-section study. We analysed 40,217 cases, among them 2.8% had birth defects. Bivariate analysis showed a higher prevalence of birth defects with increased pre-pregnancy body mass index and in extremes of maternal age, white skin colour, and primiparity. Multivariable logistic regression showed a higher chance of birth defects in women with pre-pregnancy overweight/obesity (OR:1.19 [CI95%:1.01-1.41]), maternal age ≥ 40 years (OR:1.68 [CI95%:1.11-2.54]), and white skin colour (OR:1.44 [CI95%:1.19-1.75]). Maternal weight is a modifiable risk factor that must be considered and addressed in preconception counselling to minimise possible deleterious effects on embryogenesis.IMPACT STATEMENTWhat is already known on this subject? Previous studies have linked some maternal factors with birth defects. However, the association with prepregnancy maternal body mass index is not clear.What do the results of this study add? Our findings provide support for the association of prepregnancy maternal overweight and obesity with birth defects and highlight that BMI is a modified risk factor.What are the implications of these findings for clinical practice and/or further research? Maternal body mass index is a modifiable risk factor, highlighting the importance of preconception counselling for the prevention and possible reduction of factors that increase the risk of birth defects.

Psychological Impact of TP53-Variant-Carrier Newborns and Counselling on Mothers: A Pediatric Surveillance Cohort.

Counselling and genetic testing (CGT) after neonatal screening may increase depression and anxiety (DA) levels during cancer surveillance. This study assessed the DA scores in mothers of newborns from Paraná state, Southern Brazil, carrying the TP53 p.R337H variant. To understand and adjust DA conditions during term of pregnancy, we initially detected sociodemographic covariates [marital status (MS), number of children (NC), and/or education level (EL): MS-NC-EL] on an independent group of pregnant women (not subjected to genetic testing). The Hospital Anxiety and Depression Scale (HADS) was used to assess risk factors in pregnant (cross-sectional analysis) and unrelated mothers (at 2-month intervals, longitudinal study) of TP53 p.R337H-tested newborns (three sessions of HADS analysis) using Wilcoxon (Mann-Whitney) and Kruskal-Wallis nonparametric tests. Lower anxiety levels were observed in mothers of noncarriers (without MS-NC-EL = 6.91 ± 1.19; with MS-NC-EL = 6.82 ± 0.93) than in mothers of p.R337H carriers in the first session (without MS-NC-EL = 6.82 = 8.49 ± 0.6025, with MS-NC-EL = 6.82 = 9.21 ± 0.66). The anxiety levels significantly decreased 4 months after CGT (third session) in mothers of p.R337H carriers. We did not find a significant change in depression scores. Mothers with mental health instability requiring medications need periodical psychological support during and after CGT.

Effectiveness of brief counselling in a hospital setting for smoking cessation and risky alcohol drinking reduction: randomised clinical trial protocol.

INTRODUCTION: Chronic diseases are a public health problem, and 80% of them are related to modifiable risk factors such as unhealthy diet, physical inactivity, smoking, and risky alcohol consumption. Although the intervention in smoking and hazardous alcohol drinking has proven to be effective in Primary Care, it is unknown whether it works in the same way in the hospital setting. OBJECTIVE: To evaluate the effectiveness of brief counselling in order to modify the stage of change in smokers and at-risk drinkers treated in a high complexity hospital. METHODS: A Randomised controlled trial to be conducted, in which an evaluation is made of four brief counselling strategies for smoking cessation and risky alcohol consumption compared to usual care, selected according to the patient's stage of change. The primary result will be the proportion of patients in each of the groups (intervention and control) with identified progress in the stage of change. The reduction of consumption will be also be analysed. Protocol registered at ClinicalTrials.gov (NCT03521622). RESULTS: The results will be published in scientific journals, and its application aims to generate behavioural intervention protocols for modifiable risk factors in high complexity hospitals. The trial was presented and approved by the Ethics and Research Committee of the Pontificia Universidad Javeriana and Hospital Universitario de San Ignacio, Bogota, Colombia (Approval 01/2018).

Efectividad de la consejería breve en el ámbito hospitalario para la cesación del tabaquismo y la disminución del consumo riesgoso de alcohol: Protocolo de un experimento clínico aleatorizado / Effectiveness of Brief Counseling in a Hospital Setting for Smoking Cessation and Risky Alcohol Drinking Reduction: Randomized Clinical Trial Protocol

Resumen Introducción: Las enfermedades crónicas son un problema de salud pública; el 80% de ellas se relacionan con factores de riesgo modificables, como una dieta poco saludable, la inactividad física, el tabaquismo y el consumo riesgoso de alcohol. La intervención en el tabaquismo y el consumo riesgoso de alcohol se ha demostrado efectiva en el cuidado primario, pero se desconoce si funciona de la misma manera en el contexto hospitalario. Objetivo: Evaluar la efectividad de la consejería breve para modificar el estadio de cambio en pacientes fumadores y bebedores en riesgo atendidos en un hospital de alta complejidad. Métodos: Experimento clínico aleatorizado, que evalúa la efectividad de 4 modalidades de consejería breve para la cesación de tabaquismo y el consumo riesgoso de alcohol en comparación con el cuidado habitual, seleccionadas según el estadio de cambio del sujeto. El resultado primario es la proporción de pacientes en cada uno de los grupos (intervención y control) en los cuales se identifica el avance en el estadio de cambio; además se analizará la reducción de consumos. Protocolo registrado en ClinicalTrials.gov (NCT03521622). Resultados: Los resultados se publicarán en revistas de literatura científica y su aplicación pretende generar protocolos de intervenciones conductuales en factores de riesgo modificables en hospitales de alta complejidad. El experimento fue presentado y aprobado por el Comité de Ética e Investigación de la Pontificia Universidad Javeriana y el Hospital Universitario de San Ignacio (aprobación 01/2018).

Abstrac Introduction: Chronic diseases are a public health problem, and 80% of them are related to modifiable risk factors such as unhealthy diet, physical inactivity, smoking, and risky alcohol consumption. Although the intervention in smoking and hazardous alcohol drinking has proven to be effective in Primary Care, it is unknown whether it works in the same way in the hospital setting. Objective: To evaluate the effectiveness of brief counselling in order to modify the stage of change in smokers and at-risk drinkers treated in a high complexity hospital. Methods: A Randomized controlled trial to be conducted, in which an evaluation is made of four brief counselling strategies for smoking cessation and risky alcohol consumption compared to usual care, selected according to the patient's stage of change. The primary result will be the proportion of patients in each of the groups (intervention and control) with identified progress in the stage of change. The reduction of consumption will be also be analyzed. Protocol registered at ClinicalTrials.gov (NCT03521622). Results: The results will be published in scientific journals, and its application aims to generate behavioral intervention protocols for modifiable risk factors in high complexity hospitals. The trial was presented and approved by the Ethics and Research Committee of the Pontificia Universidad Javeriana and Hospital Universitario de San Ignacio, Bogota, Colombia (Approval 01/2018).

Diabetes gestacional: necesidad del asesoramiento genético preconcepcional en Matanzas / Gestational diabetes: need for preconception genetic counseling in Matanzas

RESUMEN Introducción: muchas gestantes que se atienden en consulta de Genética prenatal provienen de familias con diabetes mellitus y desarrollan diabetes gestacional, por lo que requieren el asesoramiento genético preconcepcional sobre factores de riesgo, que en muchos casos no reciben. Objetivo: identificar los antecedentes familiares de diabetes mellitus en las gestantes que debutan con diabetes gestacional, sin haber tenido asesoramiento genético preconcepcional. Materiales y métodos: se realizó un estudio descriptivo retrospectivo durante el período 2017 a 2019 en 186 embarazadas diagnosticadas con diabetes gestacional, del municipio Matanzas. Resultados: el 39,7 % de las gestantes con diabetes gestacional pertenecían a familias con diabetes mellitus; el 27,02 % tenía un familiar de primer grado afectado; en el 59,45 % predominó la vía materna de transmisión hereditaria; un 22,58 % presentó defectos congénitos, y el 54,05 % no recibió asesoramiento genético preconcepcional. Conclusiones: no todas las embarazadas con antecedentes familiares de diabetes mellitus recibieron asesoramiento genético preconcepcional, indispensable para minimizar el riesgo de diabetes gestacional (AU).

ABSTRACT Introduction: many pregnant women attended in prenatal genetic consultation come from families with diabetes mellitus and develop gestational diabetes, so they require preconception genetic counseling on risk factors, which they do not receive in many cases. Objective: to identify family antecedents of diabetes mellitus in pregnant women who debut with gestational diabetes, without having received preconceptional genetic counseling. Materials and methods: a retrospective descriptive study was carried out during the period 2017 to 2019 in 186 pregnant women from the municipality of Matanzas, diagnosed with gestational diabetes. Results: 39.7 % of the pregnant with gestational diabetes came from families with diabetes mellitus; 27.02 % of them had an affected first-grade relative; maternal hereditary transmission predominated in 59.45 %; 22.58 % presented congenital defects, and 54.05 % did not received preconceptional genetic counseling. Conclusions: not all the pregnant women with family antecedents of diabetes mellitus received preconceptional genetic counseling, which is essential to minimize the risk of gestational diabetes (AU).

Giving Body to the Body: Predictive Genetic Testing and Self-desomatization / Darle cuerpo al cuerpo: pruebas genéticas predictivas y autodesomatización / Dar corpo ao corpo: testes genéticos preditivos e autodesomatização

Abstract Genetics test in predictive medicine seems to take charge of the uniqueness of any human being. Unlike preventive medicine it moves from the theoretical assumption of the knowledge of a specific individual's genetic structure and potential fragility. However, the attention paid to the gene risks placing the living and experienced body in the shadow. Sometimes, "genetic news" can make the subject in the present act like a sick person without being so, read every event in that direction, and, ultimately, fulfill the prophecy. The article goes beyond the alleged non-exceptionalism of genetic data and discusses the symbolic value that the gene has assumed and its role in reflexivity and self-perception.

Resumen Las pruebas genéticas en la medicina predictiva parecen encargarse de la singularidad del ser humano, a diferencia de la medicina preventiva parte del supuesto teórico del conocimiento de la estructura genética y de la fragilidad potencial de un individuo específico. Sin embargo, la atención que se presta al dato genético tiene el riesgo ensombrecer el cuerpo vívido y la experiencia en primera persona. En ocasiones, las "noticias genéticas" pueden llevar al sujeto en el presente a actuar como un enfermo sin serlo, a leer cada evento en ese sentido y, por último, a cumplir la predicción. El artículo va más allá de la supuesta no excepcionalidad de los datos genéticos y analiza el valor simbólico que ha asumido el gen y su papel en la reflexividad y la autopercepción.

Resumo Os testes genéticos em medicina preditiva parecem se responsabilizar pela singularidade de qualquer ser humano, enquanto a medicina preventiva se move a partir do suposto teórico do conhecimento da estrutura genética e da fragilidade potencial de um indivíduo específico. Contudo, a atenção prestada ao dado genético está arriscada a agravar o corpo vívido e a experiência em primeira pessoa. Em ocasiões, as "notícias genéticas" podem levar o sujeito no presente a atuar como um doente sem ser isso, a ler cada evento nesse sentido e, definitivamente, a cumprir o predito. Este artigo vai mais além da suposta não excepcionalidade dos dados genéticos e analisa o valor simbólico que o gene assume e seu papel na reflexividade e na autopercepção.

Effectiveness of Counseling for Infertile Couples on Women's Emotional Disturbance: A Randomized Clinical Trial / Eficácia do aconselhamento a casais inférteis nos distúrbios emocionais das mulheres: um ensaio clínico randomizado

Abstract Objective The psychosocial burden of infertility among couples can be one of the most important reasons for women's emotional disturbance. The goal of the present study was to investigate the effect of counseling on different emotional aspects of infertile women. Methods The present randomized clinical trial was performed on 60 couples with primary infertility who were referred for treatment for the first time and did not receive psychiatric or psychological treatment. Samples were allocated to an intervention group (30 couples) and a control group (30 couples) by simple randomization. The intervention group received infertility counseling for 6 45-minute sessions twice a week, and the control group received routine care. The Screening on Distress in Fertility Treatment (SCREENIVF) questionnaire was completed before and after the intervention. Samples were collected from November to December 2016 for 3 months. For the data analysis, we used the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 19.0, and the paired t-test, the independent t-test, the Mann-Whitney test, the Wilcoxon test, and the Chi-squared test. Results The mean age of the participants was 33.39±5.67 years. All studied couples had primary infertility and no children. The mean duration of the couples' infertilitywas 3 years. There was a significant difference regarding depression (1.55±1.92; p<0.0001), social support (15.73±3.41; p<0.0001), and cognitions regarding domains of fertility problems (26.48±3.05; p=0.001) between the 2 groups after the intervention, but there was no significant difference regarding anxiety (25.03±3.09; p=0.35). Conclusion The findings showed that infertility counseling did not affect the total score of infertile women' emotional status, but improved the domains of it except, anxiety.

Resumo Objetivo A carga psicossocial da infertilidade entre casais pode ser uma das razões mais importantes para os distúrbios emocionais emmulheres. O objetivo deste estudo foi investigar o efeito do aconselhamento em diferentes aspectos emocionais de mulheres inférteis. Métodos Este ensaio clínico randomizado foi realizado com 60 casais com infertilidade primária indicados para tratamento pela primeira vez mas que não receberam tratamento psiquiátrico ou psicológico. As amostras foram alocadas em um grupo de intervenção (30 casais) e um grupo de controle (30 casais) por randomização simples. O grupo de intervenção recebeu aconselhamento sobre infertilidade por 6 sessões de 45 minutos 2 vezes por semana e o grupo controle recebeu cuidados de rotina. O questionário de Triagem por Aflição no Tratamento da Infertilidade (Screening on Distress in Fertility Treatment SCREENIVF em inglês) foi preenchido antes e após a intervenção. As amostras foramcoletadas de novembro a dezembro de 2016 durante 3 meses. Para a análise dos dados usamos o programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows IBMCorp. Armonk NY Estados Unidos) versão 19.0 e os testes-t pareado e independente e os testes de Mann-Whitney de Wilcoxon e do qui quadrado. Resultados A média de idade dos participantes foi de 33 39 ± 5 67 anos. Todos os casais estudados tinham infertilidade primária e não tinham filhos. A duraçãomédia da infertilidade dos casais era de 3 anos. Houve diferença significativa quanto à depressão (1 55±1 92; p<0 0001) ao apoio social (15 73±3 41; p <0 0001) e às cognições em relação aos campos dos problemas de fertilidade (26 48±3 05; p=0 001) entre dois grupos após a intervenção mas não houve diferença significativa com relação à ansiedade (25 03±3 09; p=0 35). Conclusão Os achados mostraram que o aconselhamento sobre infertilidade não afetou a pontuação total do estado emocional de mulheres inférteis mas melhorou seus campos exceto a ansiedade.

Socio-cultural factors for breastfeeding cessation and their relationship with child diarrhoea in the rural high-altitude Peruvian Andes - a qualitative study.

BACKGROUND: In some areas of the world, breast milk is seen as a potential source of child diarrhoea. While this belief has been explored in African and Southeast Asian countries, it remains vastly understudied in Latin American contexts. We investigate socio-cultural factors contributing to breastfeeding cessation in rural high-altitude populations of the Peruvian Andes. The role of socio- cultural factors in the local explanatory model of child diarrhoea, and whether these perceptions were integrated in the local healthcare system were assessed. METHODS: Within the framework of a randomised controlled trial, we conducted semi-structured interviews with 40 mothers and 15 health personnel from local healthcare centres involved in the trial. RESULTS: Cultural beliefs on breastfeeding cessation included the perception that breast milk turned into "blood" after six months and that breastfeeding caused child diarrhoea. We identified eight local types of child diarrhoea, and women linked six of them with breastfeeding practices. "Infection" was the only diarrhoea mothers linked to hygiene and the germ disease concept and perceived as treatable through drug therapy. Women believed that other types of diarrhoea could not be treated within the formal healthcare sector. Interviews with health personnel revealed no protocol for, or consensus about, the integration of the local explanatory model of child diarrhoea in local healthcare and service provision. CONCLUSIONS: The local explanatory model in rural Andean Peru connected breastfeeding with child diarrhoeas. Cultural beliefs regarding diarrhoea management may increase home treatments, even in cases of severe diarrhoeal episodes. Future national breastfeeding support programmes should promote peer-counselling approaches to reduce negative attitudes towards breastfeeding and health practitioners. Local explanatory models should be incorporated into provincial and regional strategies for child diarrhoea management to promote equity in health and improve provider-patient relationships.

RESUMEN: ANTECEDENTES: En diferentes partes del mundo, la leche materna es percibida como una fuente potencial de diarreas infantiles. Mientras que estas creencias se han estudiado en África o el Sudeste Asiático, su análisis en el contexto latinoamericano es limitado. Esta investigación se centra en el estudio de los factores culturales que contribuyen al cese de la lactancia materna en poblaciones rurales de los Andes peruanos. Al mismo tiempo, también se analiza el papel de estos factores culturales en el modelo explicativo local de diarreas infantiles y la integración de las creencias en los servicios locales de salud. MéTODOS: Dentro de un ensayo clínico aleatorizado, se llevaron a cabo entrevistas semi-estructuradas con 40 mujeres y 15 trabajadores de salud de centros participantes en el ensayo. RESULTADOS: Las creencias culturales en torno a la lactancia maternal incluían la percepción de que la leche materna se convierten en "sangre" a los seis meses del parto y que la leche materna causaba diarreas en los niños lactantes. Identificamos ocho tipos de diarreas locales, seis de las cuales fueron asociadas con la lactancia por las madres participantes. "Infección" resultó ser el único tipo de diarrea que las madres asociaron con los principios de la higiene y la teoría microbiana de la enfermedad y percibían como curable por medio de medicamentos. Las mujeres creían que el resto de diarreas locales no podían ser tratadas dentro del sistema de salud. Las entrevistas con el personal sanitario indicaron una falta de protocolos y consenso sobre cómo integrar el sistema de creencias locales en torno a las diarreas infantiles en los servicios de salud. CONCLUSIONES: El modelo explicativo local en zonas rurales de los Andes peruanos asocia la lactancia con las diarreas infantiles. Estas creencias culturales dan lugar a prácticas de manejo de diarreas infantiles que pueden incrementar los tratamientos domiciliarios, incluso en episodios de diarrea severos. Futuros programas nacionales de apoyo a la lactancia materna deben promover la consejería y apoyo de pares y profesionales de salud con la finalidad de reducir las actitudes negativas hacia la lactancia materna y el personal de salud. Los modelos explicativos locales de las diarreas infantiles deberían incorporarse a las estrategias provinciales y regionales con la finalidad de promover la equidad en salud y mejorar las relaciones médico-paciente.

Aconselhamento Fonoaudiológico: um formato único e personalizado para sujeitos com zumbido crônico / Speech Therapy Counseling: a unique and personalized format for subjects with chronic tinnitus / Asesoramiento de terapia del habla: un formato único y personalizado para sujetos con tinnitus crónico

Introdução: O zumbido é uma percepção auditiva na ausência de um estímulo acústico externo. Por ser um crescente na clínica audiológica, é necessário buscar estratégias de tratamento rápidas e eficazes. Objetivo: Verificar o resultado de um formato único de Aconselhamento Fonoaudiológico na redução da percepção do zumbido. Método: Estudo de caráter prospectivo e transversal, registrado sob o número 776111417.5.0000.5346, composto por conveniência. Os critérios de elegibilidade contemplaram sujeitos de 18 a 59 anos, com limiares auditivos normais e zumbido crônico, Escala Visual Analógica (EVA) (mínimo nota cinco), sem histórico de doenças neurológicas e psiquiátricas. Foram submetidos à anamnese, EVA e Tinnitus Handicap Inventory (THI) antes e pós-tratamento. Para o tratamento foi realizada uma divisão em dois grupos de forma randomizada. Um, denominado Grupo Aconselhamento Fonoaudiológico (grupo alvo), recebeu Aconselhamento Fonoaudiológico (personalizado e por escrito) baseado na Tinnitus Activities Treatment e acrescentaram-se, ainda, orientações referentes a alterações metabólicas, musculares, hábitos alimentares, entre outras. Outro, o Grupo Música, foi orientado a ouvir música ao perceber o sintoma. Após o intervalo de um mês, foram reaplicados a EVA e o THI. Resultados: Participaram 11 sujeitos de ambos os gêneros. O Grupo alvo apresentou melhora e diferenças estatisticamente significantes antes e pós-tratamento. Conclusão: O Aconselhamento Fonoaudiológico em formato único e personalizado mostrou-se eficaz na redução da percepção do sintoma podendo, assim, ser implementado em diferentes centros auditivos.

Introduction: Tinnitus is an auditory perception in the absence of an external acoustic stimulus. As it is growing in the audiological clinic, it is necessary to seek fast and effective treatment strategies. Objective: To verify the result of a unique format of Speech Therapy Counseling in the tinnitus perception reduction. Methods: Prospective and transversal study, registered under number 776111417.5.0000.5346, composed by convenience. The eligibility criteria included subjects from 18 to 59 years old, with normal hearing thresholds and chronic tinnitus, Visual Analogue Scale (EVA) at least grade five and with no history of neurological and / or psychiatric diseases. They were submitted to anamnesis, EVA and Tinnitus Handicap Inventory (THI) before and after treatment. For treatment, a division into two groups was performed randomly. One, called the Speech Therapy Counseling Group (target group), received Speech Therapy Counseling (personalized and written) based on the Tinnitus Activities Treatment and guidelines were also added regarding metabolic and muscular changes, eating habits, among others. Another, Music Group, was instructed to listen to music when noticing the symptom. After one month, EVA and THI were reapplied. Results: 11 subjects of both genders participated. The target group showed improvement and statistically significant differences before and after treatment. Conclusion: Speech therapy counseling in a unique and personalized format proved to be effective in reducing the perception of the symptom and can thus be implemented in different hearing centers.

Introducción: El tinnitus es una percepción auditiva en ausencia de un estímulo acústico externo. Como es un área en crecimiento en la clínica audiológica, es necesario buscar estrategias de tratamiento rápidas y efectivas. Objetivo: Verificar el resultado de un formato único de terapia del habla para reducir la percepción del tinnitus. Metodos: Estudio prospectivo y transversal, registrado con el número 776111417.5.0000.5346, consistente en conveniencia. Los criterios de elegibilidad incluyeron sujetos de 18 a 59 años, con umbrales auditivos normales y tinnitus crónico, Escala Visual Analógica (EVA) (nota mínima cinco), sin antecedentes de enfermedades neurológicas y psiquiátricas. Fueron sometidos a anamnesis, EVA e Inventariode Tinnitus Handicap (THI) antes y después del tratamiento. Para el tratamiento, se realizó una división en dos grupos al azar. Uno, llamado Grupo de Asesoría de Terapia del Habla (grupo objetivo), recibió la Asesoría de Terapia del Habla (personalizada y por escrito) basada en el Tratamiento de Actividades de Tinnitus y también se agregaron pautas sobre cambios metabólicos y musculares, hábitos alimenticios, entre otros. Otro, Grupo Música, recibió instrucciones de escuchar música al notar el síntoma. Después de un mes, EVA y THI se volvieron a aplicar. Resultados: 11 sujetos de ambos sexos participaron. El Grupo objetivo mostró una mejoría y diferencias estadísticamente significativas antes y después del tratamento. Conclusión: El asesoramiento en terapia del habla en un formato único y personalizado demostró ser efectivo para reducir la percepción del síntoma y, por lo tanto, puede implementarse en diferentes centros auditivos.

Continuation rates of the 52-mg levonorgestrel-releasing intrauterine system according to the primary reason for its use / Taxas de continuação com o sistema intrauterino de liberação de levonorgestrel de 52mg de acordo com o motivo principal de seu uso

Abstract Objective To evaluate whether continuation rates with the 52-mg levonorgestrelreleasing intrauterine system (LNG-IUS) up to 5 years after placement differed between women using the method exclusively for contraception and those using the device for medical reasons alone. Methods A retrospective cohort study was conducted in a family planning clinic with 5,034 LNG-IUS users: 4,287 using the method exclusively for contraception and 747 for medical reasons alone. The continuation rate at 1 to 5 years of use was calculated by life table analysis. Results Initially, the continuation rate was significantly higher in the contraception group: 85.8 versus 83.4 and 77.4 versus 76.0 per 100 women-years in the 1st and 2nd years of use, respectively. There were more discontinuations due to bleeding/spotting in the medical reasons group in the first two years. The discontinuation rate according to reason for use was not significantly different from the third to the fifth year of use. No women discontinued due to amenorrhea in either group. Conclusion The continuation rate was significantly higher in the contraception group in the first two years of use. Amenorrhea was not a reason for discontinuation in either group, suggesting that counselling in this respect was adequate. Nevertheless, counselling could perhaps have been better with regards to the expected long period of bleeding and spotting in the first two years after placement.

Resumo Objetivo Avaliar a taxa de continuação até 5 anos de uso do sistema intrauterino liberador de 52-mg levonorgestrel por dia (SIU LNG) -IUS) é diferente entre mulheres que o usam exclusivamente como anticoncepcional que entre as que usam exclusivamente por razões médicas. Métodos Estudo retrospectivo realizado em uma clínica de Planejamento Familiar 5.034 usuárias de SIU LNG, 4.287 que optaram pelo método apenas como anticoncepcional e 747 que o usavamsomente por razoesmédicas. A taxa de continuação de um até cinco ano foi calculada por meio de análise de tabela de vida Resultados No início a taxa de continuação foi significativamente maior no grupo da anticoncepção: 85,8 versus 83,4 e 77,4 versus 76,0 por 100 anos-mulher no 1° e 2° ano de uso, respectivamente. Houve mais descontinuações por sangrado-manchado no grupo de razões médicas nos dos primeiros anos. A taxa de continuação não foi significativamente diferente desde o terceiro até o quinto ano de uso. Nenhuma mulher de ambos os grupos descontinuou por amenorreia. Conclusão A taxa de continuação foi significativamente maior no grupo de anticoncepção durante os dos primeiros anos de uso. Amenorreia não foi motivo de descontinuação em ambos os grupos, sugerindo que a orientação a esse respeito foi adequada. Entretanto, a orientação referente ao longo período de sangramentos irregulares nos dois primeiros anos após a inserção, precisaria ser melhorado.