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BACKGROUND: Genome association studies have shown that gene-gene interactions or epistasis play a crucial role in identifying the etiology, prognosis, and treatment response of many complex diseases beyond their main effects. Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic and gen-gen interaction etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups, and the incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The objective is to present the case of a patient with four variants that generates gen-gen interactions in the skeletal dysplasia. CASE PRESENTATION: A 1-year-old male patient was diagnosed with skeletal dysplasia based on prenatal ultrasound showing micromelia and pyelocalyceal dilation. Postnatal physical examination revealed body disproportion and involvement of other organs and systems. MATERIALS AND METHODS: A sequencing study and deletions/duplications analysis were performed for 358 candidate genes associated with skeletal dysplasia. The GeneMANIA interface was used to evaluate the expression network of genes associated with each other for the gen-gen interaction. RESULTS: Four pathogenic variants were obtained two heterozygous variants with pathogenic significance in SLC26A, one heterozygous pathogenic variant in CLCN7 and another heterozygous pathogenic variant in CEP120. The GeneMANIA interface reveals 77.64% physical interactions, 8.01% co-expression, 5.37% prediction, 3.63% co-localization, 2.87% genetic interactions, 1.88% route of action, and 0.60% shared protein domains. DISCUSSION AND CONCLUSIONS: These results suggest that the interaction between these genes affects the activity of the inorganic anion exchanger, leading to disorganization of collagen fibers, early mineralization, and decreased assembly of fibronectin in the bone extracellular matrix. Identifying gene-gene interactions is a fundamental step in understanding proper cell function and thus understanding the pathophysiology of many complex human diseases, improving diagnosis, and the possibilities of new personalized therapies.
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Brief alcohol advice offered to patients was shown to be a clinically- and cost-effective intervention to prevent and manage alcohol-related health harm. However, this intervention is not yet optimally implemented in practice. A suggested strategy to improve the implementation of brief alcohol advice is through community actions which would enhance the environment in which primary healthcare providers must deliver the intervention. However, there has been scarce research conducted to date regarding which community actions have most influence on the adoption and implementation of brief alcohol advice. The current protocol presents the development of a package of community actions to be implemented in three Latin American municipalities, in Colombia, Mexico and Peru. The community actions were based on the Institute for Health Care Improvement's framework for going to full scale, and include: (i) involvement of a Community Advisory Board, (ii) involvement of a project champion, (iii) adoption mechanisms, (iv) support systems and (v) a communication campaign. By presenting a protocol for developing community actions with input from local stakeholders, this article contributes to advancing the public health field of alcohol prevention by potentially stimulating the sustainable adoption and implementation of brief alcohol advice in routine practice.
Subject(s)
Community Participation , Delivery of Health Care , Humans , Latin America , Mexico , Public HealthABSTRACT
This study aimed to predict dietary recommendations and compare the performance of algorithms based on collaborative filtering for making predictions of personalized dietary recommendations. We analyzed the baseline cross-sectional data (2008-2010) of 12,667 participants of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil). The participants were public employees of teaching and research institutions, aged 35-74 years, and 59% female. A semiquantitative Food Frequency Questionnaire (FFQ) was used for dietary assessment. The predictions of dietary recommendations were based on two machine learning (ML) algorithms-user-based collaborative filtering (UBCF) and item-based collaborative filtering (IBCF). The ML algorithms had similar precision (88-91%). The error metrics were lower for UBCF than for IBCF: with a root mean square error (RMSE) of 1.49 vs. 1.67 and a mean square error (MSE) of 2.21 vs. 2.78. Although all food groups were used as input in the system, the items eligible as recommendations included whole cereals, tubers and roots, beans and other legumes, oilseeds, fruits, vegetables, white meats and fish, and low-fat dairy products and milk. The algorithms' performances were similar in making predictions for dietary recommendations. The models presented can provide support for health professionals in interventions that promote healthier habits and improve adherence to this personalized dietary advice.
Subject(s)
Vegetables , Animals , Cross-Sectional Studies , Brazil , Longitudinal Studies , Diet SurveysABSTRACT
Abstract: The study aimed to analyze the actions of the Professional Councils in relation to 966 professional-ethical complaints addressed to the Regional Council of Medicine of Minas Gerais between 2012 and 2017. The number of cases, gender, articles violated of the Code of Medical Ethics and decisions made in the lawsuits were considered. An expressive result was observed in terms of acquittal (535 cases) by the Regional Council of Medicine of Minas Gerais. There was a divergence when the same cases were evaluated by the Federal Council of Medicine, which upheld the acquittal in only 29% of the cases. Due to the methodology applied, it was not possible to go beyond speculation on the subject, being necessary a better analysis of the scientific community on this issue.
Resumen: El estudio tuvo como objetivo analizar las acciones de los Consejos Profesionales en relación con 966 quejas ético-profesionales dirigidas al Consejo Regional de Medicina de Minas Gerais entre 2012 y 2017. Se consideró el número de casos, el género, los artículos violados del Código de Ética Médica y las decisiones tomadas en los juicios. Se observó un resultado expresivo en cuanto a la absolución (535 casos) por parte del Consejo Regional de Medicina de Minas Gerais. Hubo una divergencia cuando los mismos casos fueron evaluados por el Consejo Federal de Medicina, que mantuvo la absolución sólo en el 29% de los casos. Debido a la metodología aplicada, no fue posible ir más allá de la especulación sobre el tema, siendo necesario un mejor análisis de la comunidad científica sobre esta cuestión.
Resumo: O estudo visava analisar as acções dos Conselhos Profissionais em relação a 966 queixas de ética profissional dirigidas ao Conselho Regional de Medicina de Minas Gerais entre 2012 e 2017. Considerou o número de casos, género, artigos violados do Código de Ética Médica e as decisões tomadas nos julgamentos. Um resultado expressivo foi observado em termos de absolvição (535 casos) pelo Conselho Regional de Medicina de Minas Gerais. Houve uma divergência quando os mesmos casos foram avaliados pelo Conselho Federal de Medicina, que manteve a absolvição em apenas 29% dos casos. Devido à metodologia aplicada, não foi possível ir além da especulação sobre o assunto, sendo necessária uma melhor análise da comunidade científica sobre esta questão.
Subject(s)
Humans , Male , Female , Health Councils , Whistleblowing , Brazil , Cross-Sectional Studies , Ethics, ProfessionalABSTRACT
Counseling by health professionals has promising results in behavior change and is recommended as part of integrated community interventions. However, the knowledge about sedentary behavior (SB) counseling is incipient. The study aimed to identify the prevalence and explore the associated factors with SB counseling received from healthcare professionals by adults in primary health care (PHC) in Brazil. A cross-sectional study was conducted in 2019 that included a representative sample of 779 users in all 15 basic health units (BHU) in São José dos Pinhais, Paraná. We identified those who reported having received SB counseling during a consultation. The association between the sociodemographic factors, chronic diseases, access to health services, physical activity, SB, and counseling were analyzed using Poisson regression in a hierarchical model. The prevalence of counseling was 12.2% (95% CI: 10.1-14.7%); it was higher in women (PR: 1.77; 95% CI: 1.10-2.83), those aged ≥60 yrs (PR: 1.84; 95% CI: 1.14-2.98), BMI ≥ 30 kg/m2 (PR: 2.60; 95% CI: 1.31-5.17), who consume ≥3 medications (PR: 2.21; 95% CI: 1.06-4.59), and those who spend a prolonged period of the day engaged in SB (4th quartile PR: 3.44; 95% CI: 1.88-6.31). The results highlight that SB counseling is underutilized and incipient in PHC. Understanding these results can help managers and healthcare professionals in BHU teams to implement and direct specific actions to reduce SB in adults through counseling.
Subject(s)
Counseling , Sedentary Behavior , Adult , Brazil/epidemiology , Cross-Sectional Studies , Delivery of Health Care , Female , Humans , Primary Health CareABSTRACT
The problem of medication non-adherence has persisted over decades. The rate of adherence decreases with time and improvement in health condition. When patients cannot follow their prescribed medication regime, it leads to deterioration of their health condition and increases their financial costs. This research aims to find the effect of reminder on medication adherence behaviour of patients when "Acceptance of Side Effect", "Quality of Life" and "Medication Beliefs" act as mediators. The sample size of the research was 505. Sampling units comprised patients suffering from different diseases in Central Referral Hospital, Sikkim, India. By developing a Structural Equation Model, the effect of reminder on the mediators and adherence was analysed. The results show a significant positive association between reminder and the three mediators. Reminder has a significant positive effect on adherence (ß=0.637, e=0.055, p=0.001). The effect is higher in the presence of mediators (ß=0.7, e=0.037, p=0.001).
Subject(s)
Reminder Systems , Medication AdherenceABSTRACT
Alcohol measurement delivered by health care providers in primary health care settings is an efficacious and cost-effective intervention to reduce alcohol consumption among patients. However, this intervention is not yet routinely implemented in practice. Community support has been recommended as a strategy to stimulate the delivery of alcohol measurement by health care providers, yet evidence on the effectiveness of community support in this regard is scarce. The current study used a pre-post quasi-experimental design in order to investigate the effect of community support in three Latin American municipalities in Colombia, Mexico, and Peru on health care providers' rates of measuring alcohol consumption in their patients. The analysis is based on the first 5 months of implementation. Moreover, the study explored possible mechanisms underlying the effects of community support, through health care providers' awareness of support, as well as their attitudes, subjective norms, self-efficacy, and subsequent intention toward delivering the intervention. An ANOVA test indicated that community support had a significant effect on health care providers' rates of measuring alcohol consumption in their patients (F (1, 259) = 4.56, p = 0.034, ηp2 = 0.018). Moreover, a path analysis showed that community support had a significant indirect positive effect on providers' self-efficacy to deliver the intervention (b = 0.07, p = 0.008), which was mediated through awareness of support. Specifically, provision of community support resulted in a higher awareness of support among health care providers (b = 0.31, p < 0.001), which then led to higher self-efficacy to deliver brief alcohol advice (b = 0.23, p = 0.010). Results indicate that adoption of an alcohol measurement intervention by health care providers may be aided by community support, by directly impacting the rates of alcohol measurement sessions, and by increasing providers' self-efficacy to deliver this intervention, through increased awareness of support. Trial Registration ID: NCT03524599; Registered 15 May 2018; https://clinicaltrials.gov/ct2/show/NCT03524599.
Subject(s)
Alcohol Drinking , Community Support , Alcohol Drinking/prevention & control , Health Personnel , Humans , Mexico , Primary Health CareABSTRACT
This study sought to quantify healthcare providers' advice about gestational weight gain (GWG), diet, and exercise among first-time pregnant Brazilian women living in the USA. This is a cross-sectional study of first-time pregnant Brazilian women living in selected cities in Massachusetts. The study sample included 86 women, nearly all (97%; n = 83) immigrants. Participants' mean age was 28.3 years and mean gestation was 27.5 weeks. Approximately 25.6% (n = 22) reported being overweight, and 1.2% (n = 1) being underweight. Only about 62% (n = 53) reported receiving advice from their healthcare provider on recommended GWG. In addition, about 83% (n = 71) and 81% (n = 70) reported receiving healthcare providers' advice on exercise and diet, respectively. Women who self-reported being overweight pre-pregnancy (OR 0.15; 95% confidence interval [CI] 0.03-0.73; p = 0.02) and women who were classified low acculturation levels (OR 0.12; 95% CI 0.02-0.08; p = 0.03) were less likely to report receiving healthcare providers' advice on GWG compared to women who self-reported being normal weight pre-pregnancy and those classified having high acculturation level, respectively. Furthermore, women who self-reported being overweight pre-pregnancy were less likely to report receiving diet-related advice (OR 0.32; 95% CI 0.10-1.02; p = 0.05) than women who self-reported being normal weight pre-pregnancy. Findings indicate the need for increased communication and counseling between healthcare providers and Brazilian immigrant women about GWG, in particular for women with low acculturation levels and language barriers suggesting the need for linguistic and culturally relevant interventions designed to improve Brazilian immigrant women's access to evidence-based information about GWG, diet, and exercise.
Subject(s)
Emigrants and Immigrants , Gestational Weight Gain , Adult , Body Mass Index , Brazil , Cross-Sectional Studies , Diet , Female , Health Personnel , Humans , Male , Overweight , Pregnancy , Prenatal CareABSTRACT
Sixteen million people in the United States are unpaid caregivers to people with Alzheimer's or dementia. Although caregiver investment is associated with personal and relational benefits, there are also emotional, mental, relational, and physical costs. This study explores online well-being advice for nonprofessional caregivers of people with Alzheimer's and dementia, resulting in 332 online resources that offer informational support for nonprofessional caregivers. Although competent communication directly impacts the well-being of caregiving relationships, only 39 of these texts offered advice related to communication strategies. Thematic analysis of these 39 sources resulted in 1,024 discrete pieces of caregiver advice related to three overarching themes: Daily Routine, Care Recipient Well-Being, and Caregiver Self-Care. We examine the Caregiver Self-Care theme to understand informational support available to caregivers. These self-care advice themes reveal a need for intentional focus on the home health quality of nonprofessional caregivers about ways that communication impacts their everyday lives.
Subject(s)
Alzheimer Disease , Caregivers , Communication , Emotions , Humans , United StatesABSTRACT
An effective way to address risk factors for non-communicable chronic diseases (NCD) and reduce healthcare costs is by using sound health-related advice (HRA) to promote healthy lifestyle habits. In Argentina, however, few studies have examined the context in which HRA is communicated and undertaken by patients at the primary care level. In this study, we assessed the reception of HRA using a mixed-method approach in a central area of Argentina. A total of 1,044 participants from the community were contacted and sociodemographic characteristics, health-related lifestyle factors, and medical history were collected. A calendar with health messages was provided to participants and its usage was assessed after 1 year. Additionally, semi-structured interviews were conducted with 34 patients attending a local primary healthcare center. The results show that HRA was given more frequently to individuals with higher mean age, lower educational level, and to females. Participants with a chronic health condition are at a higher chance of receiving advice to reduce salt intake and maintain a healthy weight. Dietary advice is offered along with other lifestyle recommendations. The use of alcohol and tobacco is usually addressed together. HRA was primarily received in the context of an NCD diagnosis and advice was directed, especially, to risky behaviors. The HRA to increase the intake of fruits and vegetables was mentioned less frequently. Patients at the healthcare center greatly appreciated receiving an HRA, especially when given in a tailored, written, and detailed form, and acknowledged its importance to prevent or control a chronic health condition as part of the medical treatment but showed concern regarding the ability to fully incorporate the advice. Lifestyle recommendations are highly appreciated by patients but are still underutilized since they are offered mostly in the context of illness. The health calendar was shown to be useful to complement health intervention programs at the community level. The findings of our study underscore the acknowledged value of HRA by participants to tackle the risk factors of chronic diseases. If properly used HRA constitutes a simple and highly valued tool to help address patient's needs to prevent and control NCD in Argentina.
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BACKGROUND: Providing alcohol screening and brief advice (SBA) in primary health care (PHC) can be an effective measure to reduce alcohol consumption. To aid successful implementation in an upper middle-income country context, this study investigates the perceived appropriateness of the programme and the perceived barriers to its implementation in PHC settings in three Latin American countries: Colombia, Mexico and Peru, as part of larger implementation study (SCALA). METHODS: An online survey based on the Tailored Implementation for Chronic Diseases (TICD) implementation framework was disseminated in the three countries to key stakeholders with experience in the topic and/or setting (both health professionals and other roles, for example regional health administrators and national experts). In total, 55 respondents participated (66% response rate). For responses to both appropriateness and barriers questions, frequencies were computed, and country comparisons were made using Chi square and Kruskal-Wallis non-parametric tests. RESULTS: Alcohol SBA was seen as an appropriate programme to reduce heavy alcohol use in PHC and a range of providers were considered suitable for its delivery, such as general practitioners, nurses, psychologists and social workers. Contextual factors such as patients' normalised perception of their heavy drinking, lack of on-going support for providers, difficulty of accessing referral services and lenient alcohol control laws were the highest rated barriers. Country differences were found for two barriers: Peruvian respondents rated SBA guidelines as less clear than Mexican (Mann-Whitney U = -18.10, P = 0.001), and more strongly indicated lack of available screening instruments than Colombian (Mann-Whitney U = -12.82, P = 0.035) and Mexican respondents (Mann-Whitney U = -13.56, P = 0.018). CONCLUSIONS: The study shows the need to address contextual factors for successful implementation of SBA in practice. General congruence between the countries suggests that similar approaches can be used to encourage widespread implementation of SBA in all three studied countries, with minor tailoring based on the few country-specific barriers.
Subject(s)
Primary Health Care , Adolescent , Adult , Aged , Colombia , Crisis Intervention , Cross-Sectional Studies , Female , Humans , Male , Mexico , Middle Aged , Peru , Young AdultABSTRACT
La anomalía de Ebstein es una rara enfermedad que consiste en un espectro variable de anomalías, resultado de una implantación anormal de la válvula tricúspide en el ventrículo derecho; por tal razón, es considerada una afección grave e incurable que origina una tendencia a la terminación voluntaria del embarazo como opción reproductiva en el marco del asesoramiento genético prenatal. Los adelantos en el diagnóstico y control clinicoquirúrgico de esta enfermedad han garantizado el incremento de la supervivencia y una mejor calidad de vida en estos pacientes. Además, han permitido ajustar factores clínicos que implican su evolución y pronóstico. Se realizan algunas valoraciones, a fin de proveer los argumentos necesarios que permitan a la pareja elegir un curso de acción apropiado con vistas a los riesgos y objetivos familiares basados en los principios éticos del asesoramiento genético.
Ebstein anomaly is a strange disease that consists on a variable spectrum of anomalies, due to an abnormal installation of the tricuspid valve in the right ventricle; reason why, it is considered a serious and incurable disorder that originates a tendency to the voluntary termination of pregnancy as reproductive option in the mark of prenatal genetic advice. The advances in the diagnosis and clinical surgical control of this disease have guaranteed the increment of survival and a better life quality in these patients. Also, they have allowed to adjust clinical factors that involve its clinical course and prognosis. Some valuations are carried out, in order to provide the necessary arguments that allow the couple to choose an appropriate action course aimed at the risks and family objectives based on the ethical principles of the genetic advice.
Subject(s)
Ebstein Anomaly , Genetic Counseling , Abortion, InducedABSTRACT
Introduction: Discharging with personal satisfaction is one of the main problems in hospitalization, when the patient leaves the hospital sooner than the doctor's advice. This will exacerbate the disease and increase the risk of hospital re-admittance. In this regard, more attention should be given to children because they are not able to understand the above meaning or participate in decision making. Materials and Methods: In this descriptive cross-sectional study, all children who were discharged due to personal satisfaction from the hospital were included. The 4-page checklist for the various causes of "leaving the hospital despite medical advice" was divided into three sections: Causes related to the patient's own issues, causes related to the hospital medical staff and the causes of the hospital situation, and a page of demographical variables included gender, age and history of hospitalization and ward of hospitalization. Results: A total of 310 cases (7.4%) were discharged with personal satisfaction of their parents. The most important factor linked to discharge with personal satisfaction was the poor economic condition of parents. In terms of factors related to the medical staff, the lack of proper handling of the nurse and then the doctor were the most important factors for discharge. Conclusion: It seems that economic issues are the most important factor in the discharge of children with parental consent of parents. On the other hand, factors such as unacceptable and unpopular behavior of nurses and doctors play crucial role in this phenomenon. Parents who are under intense psychological stress due to economic problems and child illness can be at risk of developing this phenomenon if they are not mentally supported by health staffs
Subject(s)
Humans , Child , Patient Discharge , Poverty/economics , Epidemiology, Descriptive , Cross-Sectional Studies/statistics & numerical data , Patient Satisfaction , Impacts of Polution on Health/adverse effects , Parental Consent , Treatment Adherence and Compliance , HospitalizationABSTRACT
INTRODUCCIÓN: El cáncer de mama es la primera causa de muerte de la mujer en la Argentina, con una incidencia estimada de más de 19.000 casos nuevos por año. Dentro de estos, el tipo de cáncer hereditario más común es el de mama/ovario hereditario, provocado por mutaciones en los genes BRCA 1(Breast cáncer) y BRCA 2. A su vez el cáncer colorrectal es la segunda causa de muerte en Argentina, con una incidencia estimada de más de 11.000 casos nuevos por año. OBJETIVO: de la presente investigación es evaluar la utilidad de la realización de los estudios genéticos en personas con cáncer hereditario en el contexto del consejo genético, con un asesoramiento antes y después de realizarse la prueba genética POBLACIÓN Y MÉTODOS: Se estudiaron 34 mujeres con diagnóstico de cáncer de mama/ovario y 31 pacientes de ambos sexos con diagnóstico de cáncer colorrectal (CCR). En las mujeres se analizaron los genes BRCA 1 y 2 por secuenciación de próxima generación (NSG) y grandes rearreglos de los genes BRCA 1 y 2 por amplificación de sonda dependiente de la ligadura multiplex (MLPA). En las personas de ambos sexos se determinó la Inestabilidad de Microsatelites(IMS), el análisis de mismatch repair (MMR) por MLPA y la mutación del gen BRAF (Protooncogen B-Raf) RESULTADOS: Los resultados mostraron que las pacientes con cáncer de mama / ovario con antecedentes familiares tienen un alto porcentaje de BRCA negativo. En cuanto a los cambios fenotípicos, el más predominante en este estudio, fue el subtipo triple negativo y la paciente con BRCA 2 positivo presentó este fenotipo. Con respecto al estudio del cáncer de colon detectamos cuatro pacientes con IMS-alta y mutación del V600E del gen BRAF. Cuando se les realizó el análisis de MLPA en los genes MSH6, MLH1, MSH2 y PMS2 a los efectos de establecer la diferencia entre CCR y síndrome de Lynch, los resultados fueron negativos, por lo tanto, estos pacientes fueron diagnosticados como CCR esporádico. CONCLUSIONES: Como lo demuestra este trabajo, para el consejo genético, el estudio de vías moleculares en pacientes con cáncer hereditario es un instrumento de ayuda para la valoración del riesgo génico. (AU)
INTRODUCTION: Breast cancer is the leading cause of death of women in Argentina, with a estimated incidence of more than 19,000 new cases per year. Among these, the most common type of inherited cancer is the breast /ovarian caused by mutations in the BRCA1 and BRCA 2 genes. At the same time, the cancer colorrectal is the second cause of death in Argentina, with an estimated incidence of more than 11,000 new cases per year. OBJECTIVE: of the present investigation is to evaluate the usefulness of the realization of the genetic studies in people with hereditary cancer in the context of genetic counseling, with a advice before and after the genetic test. POPULATIONS AND METHODS: We studied 34 women diagnosed with breast / ovarian cancer and 31 patients of both sexes with diagnosis of colorectal cancer (CRC). In women, the BRCA 1 and 2 genes by next generation sequencing (NSG) and large rearrangements of BRCA 1 and 2 genes by probe amplification dependent on multiplex ligation(MLPA). The instability of microsatellites (IMS) was determined in people of both sexes, the analysis of mismatchrepair (MMR) by MLPA and the mutation of the BRAF gene. RESULTS: There results showed that patients with breast / ovarian cancer with a history family members have a high percentage of negative BRCA. As for the changes phenotypic, the most predominant in this study, was the triple negative subtype and the patient with positive BRCA 2 presented this phenotype. With respect to the study of colon cancer detected four patients with IMS-high and mutation of the V600E of the BRAF gene. When the MLPA analysis was performed on the MSH6, MLH1, MSH2 genes and PMS2, in order to established difference between CRC and Lynch syndrome, the results were negative and therefore these patients were diagnosed as sporadic CRC. CONCLUSIONS: As this work demonstrates, for him genetic counseling, the study of pathways molecules in patients with hereditary cancer is a helpful instrument for risk assessment. (AU)
Subject(s)
Humans , Female , Adult , Middle Aged , Aged , Genes, BRCA1 , Genetic Predisposition to Disease , Genes, BRCA2 , Hereditary Breast and Ovarian Cancer Syndrome , Ovarian Neoplasms , Argentina , Breast Neoplasms , Colorectal Neoplasms , Genetic Testing , Genetic Association StudiesABSTRACT
OBJECTIVES: To convey advice from families whose children recently underwent spinal fusion to families whose children are under consideration for initial spinal fusion for neuromuscular scoliosis and to providers who counsel families on this decision. STUDY DESIGN: We interviewed 18 families of children who underwent spinal fusion between August 2017 and January 2019 at a freestanding children's hospital. We conducted phone interviews a median of 65 (IQR 51-77) days after surgery. We audio recorded, transcribed, and coded (line-by-line) interviews using grounded theory by 2 independent reviewers, and discussed among investigators to induce themes associated with surgical decision making and preparation. RESULTS: Six themes emerged about decision making and preparation for spinal fusion: (1) simplify risks and benefits; it is easy to get lost in the details; (2) families prolonging the decision whether or not to pursue spinal fusion surgery may not benefit the child; (3) anticipate anxiety and fear when making a decision about spinal fusion; (4) realize that your child might experience a large amount of pain; (5) anticipate a long recovery and healing process after spinal fusion; and (6) be engaged and advocate for your child throughout the perioperative spinal fusion process. CONCLUSIONS: Parents of children who had recently undergone spinal fusion had strong perceptions about what information to convey to families considering surgery, which may improve communication between future parents and physicians. Further investigation is needed to assess how best to incorporate the wisdom and experiences of parent peers into shared decision making and preparation for spinal fusion in children with neuromuscular scoliosis.
Subject(s)
Decision Making , Parents , Peer Group , Scoliosis/surgery , Spinal Fusion/psychology , Adolescent , Anxiety , Child , Communication , Family , Female , Grounded Theory , Humans , Male , Preoperative Period , Qualitative Research , Risk , Social SupportABSTRACT
Introdução: Os preenchedores permanentes, apesar de resultados duradouros, são verdadeiros problemas quando causam complicações. No Brasil, o PMMA é um produto aprovado pela Anvisa, mas seu uso extrapola suas indicações, levando a complicações graves. Há mais de uma década, existem recomendações sobre sua restrição, mas casos com consequências graves do seu uso irresponsável são atuais. Objetivo: Relatar complicação grave do uso irregular do PMMA e discutir a realidade brasileira atual baseado em determinações das entidades médicas, assim como dos órgãos reguladores. Métodos: É relatado um caso de necrose extensa da região glútea após a injeção de PMMA por profissional não qualificado e discutida a situação brasileira atual do produto com base nas entidades médicas e revisão da literatura do Brasil. Discussão: Apesar do esforço das entidades médicas, são inúmeros os casos de complicações agudas e crônicas relatados na literatura brasileira. No ano de 2016, foram registradas mais de 17 mil complicações relacionadas ao PMMA, mesmo assim, é difícil estabelecer dados epidemiológicos confiáveis, pois não há controle do número de aplicações, da qualidade do produto utilizado e da capacitação dos profissionais que o utilizam. Conclusão: No Brasil, há um número expressivo de procedimentos reparadores para correção de complicações decorrentes do uso do PMMA. A gravidade do caso relatado traz à tona a necessidade de combate à má prática por profissionais não capacitados, assim como um controle mais rigoroso da comercialização do produto por entidades reguladoras.(AU)
Introduction: Use of permanent fillers can lead to significant complications. In Brazil, polymethylmethacrylate (PMMA) is a product approved by the Agência Nacional de Vigilância Sanitária (ANVISA), but its use exceeds its indications, leading to serious complications. Recommendations for restricted use have been in place for more than a decade, but cases with serious consequences due to inappropriate use are still seen. Objective: To report a serious complication due to inappropriate use of PMMA and discuss the current status of PMMA use in Brazil based on recommendations of medical societies and regulatory agencies. Methods: This report describes a case of extensive necrosis of the gluteal region after injection of PMMA by a non-qualified practitioner; the report also reviews the literature on the current status of PMMA use in Brazil. Discussion: Despite the efforts of medical societies, acute and chronic complications are still reported in the Brazilian literature. In 2016, more than 17,000 PMMArelated complications were reported; nevertheless, reliable epidemiological data remain unavailable because the number of treatments, the quality of the product, and the training of practitioners remain unregulated. Conclusion: A significant number of repair procedures are performed in Brazil to correct complications resulting from the use of PMMA. The severity of the reported case highlights the need to combat bad practice by untrained professionals, as well as the need for greater control of PMMA marketing by regulatory agencies.(AU)
Subject(s)
Humans , Female , Adult , Polymethyl Methacrylate/analysis , Polymethyl Methacrylate/adverse effects , Plastic Surgery Procedures/adverse effects , Necrosis/diagnosisABSTRACT
La correcta evaluación del semen es fundamental para un buen consejo reproductivo; el análisis seminal realizado en centros de reproducción asistida es multifuncional e incluye la valoración del potencial fértil que permita elegir el procedimiento de reproducción asistida más conveniente para el paciente, direcciona pruebas adicionales para establecer las causas de la infertilidad masculina y garantiza la seguridad del uso de muestras seminales con fines reproductivos. El objetivo del documento es explicar el rol, ventajas, limitaciones del análisis del semen y su aplicación en el consejo reproductivo, de acuerdo a las guías actuales.
The correct evaluation of semen is essential for good reproductive advice; The seminal analysis performed in assisted reproduction centers is multifunctional and includes the as- sessment of the fertile potential that allows choosing the most convenient assisted reproduction procedure for the patient, directs additional tests to establish the causes of male infer- tility and guarantees the safety of the use of seminal samples for reproductive purposes. The objective of the document is to explain the role, advantages, limitations of semen analysis and its application in the reproductive council, according to current guidelines
Subject(s)
Humans , Male , Reproductive Techniques, Assisted , Semen Analysis , Infertility, Male , SemenABSTRACT
Current discussion of the importance of food fats in the risk of coronary heart disease (CHD) often suffers from preconceptions, misunderstandings, insufficient knowledge, and selective reasoning. As a result, the sustained controversy about dietary fat recommendations can be contradictory and confusing. To clarify some of these issues, the International Expert Movement to Improve Dietary Fat Quality in cooperation with the International Union of Nutritional Sciences (IUNS) organized a symposium at the 21st meeting of the IUNS, October 17, 2017, Buenos Aires, Argentina, to summarize the key scientific evidence underlying the controversy on the relationship between the saturated and unsaturated fat consumption and CHD risk. Presenters also discussed, using examples, the rationale for and implications of the partial replacement of foods rich in saturated fats by those rich in unsaturated fats. Presentations included strategies to fit healthier fats into meals. This report summarizes the symposium presentations.
Subject(s)
Coronary Disease , Dietary Fats , Argentina , Coronary Disease/epidemiology , Diet, Healthy/trends , Dietary Fats/administration & dosage , Dietary Fats/adverse effects , Dietary Fats, Unsaturated/administration & dosage , Fatty Acids/administration & dosage , Fatty Acids, Unsaturated/administration & dosage , Humans , Nutrition Policy/trends , Risk FactorsABSTRACT
Este artigo reflete sobre as práticas e os discursos promovidos pelas educadoras com dois bebês que frequentaram o berçário de uma escola infantil e apresentavam sinais de risco de autismo precoce. Os casos são uma releitura de um trabalho de assessoramento de inclusão EP/PI/SMED, cujos efeitos assinalaram a importância de o assessor e de os educadores referenciarem o tratar e o educar como funções complementares na intervenção com bebês. (AU)
This article reflects on the practices and discourses promoted by educators with two babies who attended the nursery of a kindergarten and showed signs of risk of early autism. The cases are a re-reading of an EP/PI/SMED inclusion advisory work, whose effects signaled the importance of the advisor and educators referencing treatment and education as complementary functions in intervention with babies. (AU)