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1.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1424324

ABSTRACT

Introducción: Potenciar la participación de las mujeres durante el embarazo y el parto se alinea con el llamado de la Organización Mundial de la Salud y se vincula con efectos en la satisfacción usuaria, resultados clínicos de salud y una mejor gestión de los prestadores de salud. Objetivo : Descubrir las necesidades de participación en la toma de decisiones de las mujeres durante el proceso del embarazo y parto. Método : Análisis secundario de un estudio cualitativo descriptivo con mujeres hospitalizadas del servicio de puerperio de dos hospitales en Santiago de Chile. El análisis de los datos se realizó utilizando el método propuesto por la Grounded Theory. Resultados : Participaron doce mujeres en dos grupos focales. Del análisis relacional se desprende que la participación en el proceso reproductivo es interferida por dos grupos de factores vinculados a significados culturales y a la vulneración de los derechos de las mujeres. Conclusiones. La participación de las mujeres en las decisiones clínicas durante el proceso de embarazo y parto es aún escasa y el poder sigue manteniéndose en los profesionales de la salud, perpetuándose prácticas de violencia institucional. Para avanzar en una práctica obstétrica centrada en las mujeres, es importante reconocer el papel activo que ellas quieren y pueden cumplir para vivir una experiencia positiva y satisfactoria.


Introduction : Enhancing women's participation during pregnancy and childbirth is in line with the call of the World Health Organization and is linked to effects on user satisfaction, clinical health outcomes and better management of health care providers. Objective : To discover women's needs for participation in decision making during pregnancy and childbirth. Methods : Secondary analysis of a descriptive qualitative study with hospitalized women from the puerperium service of two hospitals in Santiago, Chile. The data analysis was carried out using the method proposed by Grounded Theory. Results : Twelve women participated in two focus groups. The relational analysis showed that participation in the reproductive process is interfered by two groups of factors linked to cultural meanings and to the violation of women's rights. Conclusions: Women's participation in clinical decisions during pregnancy and childbirth is still scarce and power is still held by health professionals, perpetuating practices of institutional violence. To advance in obstetric practice centered on women, it is important to recognize the active role that women want and can play in order to have a positive and satisfactory experience.

2.
Rev. méd. Chile ; 150(3)mar. 2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1409808

ABSTRACT

Health systems do not have the capacity to finance all services. The impact of choosing one option or another is important in order to prioritize health resources. Citizen participation can help to set priorities or to select the interventions that will receive public funding. We reviewed the literature searching for articles that reported mechanisms to gather information about citizens' values or preferences about health system coverage. We identified 363 publications, 18 articles were analyzed in full, and 7 articles were included in the review. Three articles were European, two were from Australia and two from Latin America. The most commonly used mechanisms to gather information were interviews and surveys. We conclude that there is a limited number of articles with examples of tools to capture information about values and preferences in health decision processes. The main barrier observed was the lack of standardized processes to collect the values and preferences of the community.

3.
Rev. méd. Chile ; 149(2): 196-202, feb. 2021. tab
Article in Spanish | LILACS | ID: biblio-1389446

ABSTRACT

Background: Breast cancer (BC) has a high mortality rate in developing countries due to a scarcity of early detection. Risk communication is critical to support women who face the decision to undertake BC screening. Thus, they can balance their perceived and real risk, and make informed choices. Aim: To describe experts' views on how the provision of information related to BC screening should be made. Material and Methods: A qualitative study with focus groups with national experts was conducted. Open coding was performed. Results: Four categories on the way information about BC screening should be provided emerged: to communicate about the need of the exam; the pros and cons of the test; fear as a barrier for understanding; and involving women in the decision-making process. Conclusions: These findings emphasize the need to include risk communication strategies in the patient-provider relationship and encourage and respect women's autonomy when facing the BC screening decision.


Subject(s)
Humans , Female , Breast Neoplasms/diagnostic imaging , Mammography , Mass Screening , Communication , Risk Assessment , Decision Making , Early Detection of Cancer
4.
Rev. méd. Chile ; 147(5): 589-601, mayo 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1014268

ABSTRACT

Background: The Family and Community Health Model (MAIS) establishes the continuity of care as an essential principle. The Family Study, as a clinical strategy, allows to have sufficient and timely information and knowledge about users of health care services, facilitates their accompaniment and is a source of information to improve the quality of care and the management of health centers. Aim: To develop a tool to conduct family studies, devised by experts in Primary Health Care. Material and Methods: Using a qualitative method, an electronic Delphi was conducted on 24 experts on primary health care. Afterwards, the content validation was carried out with the participation of judges. Results: The resulting tool considers two levels of family assessment. It allows to distinguish those families that would benefit from interventions of greater complexity than those derived from the usual care of health centers. Conclusions: The tool to perform family studies responds to the informational and continuity component of Continuity of Patient Care principle. It may be a proposal for the continuous improvement of Chilean primary care.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Primary Health Care/standards , Family Health/standards , Surveys and Questionnaires , Delphi Technique , Quality of Health Care/standards , Socioeconomic Factors , Chile , Reproducibility of Results , Health Personnel/statistics & numerical data , Continuity of Patient Care/standards , Qualitative Research
5.
Rev. méd. Chile ; 146(11): 1286-1293, nov. 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-985702

ABSTRACT

Background: Decisional conflict refers to the personal uncertainty about which course of action to take when the choice involves risk, regret, or challenge to personal life values. Aim: To determine the level of decisional conflict (DC) of people with Diabetes Mellitus (DM) or High Blood Pressure (HBP) attending primary care centers (PCC) in Chile. Patients and Methods: A Spanish version of the Decisional Conflict Scale (DCS) was applied to patients who were recruited if they had DM or HBP, were 18 years old or older, and had an appointment at the PCC the day of the recruitment. The scale was self-administered. Analysis of covariance (ANCOVA) was used to determine association between DC and other variables of interest while controlling confounding variables. Results: The scale was answered by 1075 participants from 24 PCC aged 62 ± 14 years (74% female). Average score for the DCS scale was 16.8 ± 12.9 of a maximum of 100 points indicating a higher DC. The sub-scale "information" had the highest score (19.9 ± 20.0). Low educational level and older age were significantly associated with higher DCS scores (p < 0.05). Having a bad health perception, deciding to initiate a medical treatment and being attended by a doctor were significantly associated with higher DC. These associations persisted when confounding variables such as sex, age and education were controlled. Conclusions: People with DM or HBP who have a poor health perception, who initiated their treatment and were attended by a doctor had higher levels of DC, independent of their age and educational level.


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Health Behavior , Conflict, Psychological , Decision Making , Diabetes Mellitus/psychology , Hypertension/psychology , Primary Health Care , Reference Values , Socioeconomic Factors , Chile , Sex Factors , Cross-Sectional Studies , Analysis of Variance , Statistics, Nonparametric , Self Report , Healthy Lifestyle
6.
Rev. panam. salud pública ; 42: e147, 2018. tab, graf
Article in Spanish | LILACS | ID: biblio-961720

ABSTRACT

RESUMEN Objetivo Describir las competencias para equipos de atención primaria en salud (APS) en distintos tópicos vinculados a la atención directa del usuario y a la gestión de los centros de salud primarios, de acuerdo a la percepción de expertos chilenos en APS. Métodos Estudio de diseño mixto. Se realizó un Delphi electrónico con 29 expertos nacionales en APS. Resultados Se propone una matriz de competencias específicas vinculada al trabajo directo con familias y a la gestión del centro de salud priorizados en tres niveles. Los expertos concuerdan que se requiere una masa crítica de profesionales que cuenten con competencias que le conciernen a la APS. Conclusiones El reto de reorganizar los sistemas de salud en torno a una APS fuerte y de calidad solo puede lograrse con la participación de profesionales que comprendan y practiquen los atributos y principios fundamentales de la APS. Los resultados de este estudio dan cuenta de un perfil de competencias para profesionales de APS alineado con recomendaciones internacionales alcanzable a través de estrategias de educación continua.


ABSTRACT Objective To describe the competencies for primary health care teams (PHC) in different topics related to the direct care of the user and the management of primary health centers, according to the perception of Chilean experts in PHC. Methods Mixed design studio. An electronic Delphi method was conducted with 29 national experts in APS. Results A matrix of specific competences related to direct work with families and to the management of the health center prioritized in three levels is proposed. Experts agreed that a critical mass of professionals with competencies in PHC is required. Conclusions The challenge of reorganizing health systems around a strong and quality PHC can only be achieved with the participation of professionals who understand and practice the attributes and fundamental principles of PHC. The results of this study show a competency profile for PHC professionals aligned with international recommendations achievable through continuous education strategies.


RESUMO Objetivo Descrever as habilidades para equipes de atenção primária à saúde (APS) sobre vários tópicos vinculados com a atenção direta do usuário e gestão de centros de saúde, de acordo com a percepção de especialistas chilenos na APS. Métodos Estudo de desenho misto. Foi realizado um Delphi eletrônico com 29 especialistas nacionais em APS. Resultados É proposta uma matriz de competências específicas vinculada ao trabalho direto com famílias e à gestão do centro de saúde priorizados em três níveis. Os especialistas concordam que se requer uma massa crítica de profissionais que contem com competências em APS. Conclusões O desafio de reorganizar os sistemas de saúde em torno de uma APS forte e de qualidade só se pode conseguir com a participação de profissionais que entendem e pratiquem os atributos e os princípios fundamentais da APS. Os resultados deste estudo mostram um perfil de competências para profissionais de APS alinhados com recomendações internacionais que podem ser alcançadas através de estratégias de educação contínua.


Subject(s)
Humans , Primary Health Care , Professional Competence , Health Personnel , Chile
7.
Rev. panam. salud pública ; 42: e133, 2018. tab
Article in Spanish | LILACS | ID: biblio-961755

ABSTRACT

RESUMEN Objetivo Describir la experiencia de participación en las decisiones clínicas desde la perspectiva de usuarios de Centros de Salud Familiar (CESFAM) de la Atención Primaria de Salud (APS). Métodos Estudio de diseño cualitativo descriptivo; se realizaron grupos focales con usuarios de CESFAM del área sudeste de Santiago, Chile, y análisis temático de la información utilizando el programa Atlas.ti versión 6®. Resultados Se realizaron cinco grupos focales (n = 41). Los principales temas emergentes fueron el rol pasivo de los usuarios en las decisiones y la toma de decisión delegada, basada en la confianza en el profesional. El rol pasivo de los usuarios limita las oportunidades de participación en las decisiones clínicas y mantiene el poder en los profesionales de la salud. A pesar de ello, el establecimiento de una alianza terapéutica les permita sentirse tratados como personas únicas, escuchados y respetados por los profesionales, lo que asegura que las decisiones tomadas por el equipo de salud son confiables, pues velan por sus reales intereses. Conclusión La participación de los usuarios en los encuentros clínicos es aún escasa en el país. Sin embargo, potenciar esta participación es esencial para aumentar la satisfacción usuaria y promover un cuidado centrado en la persona.


ABSTRACT Objective Describe users' experience with participation in clinical decision-making at Family Health Centers (CESFAM) in the Primary Health Care (PHC) system. Methods Qualitative descriptive study. Focus groups made up of CESFAM users were held in southeastern Santiago, Chile, and the information was thematically analyzed using Atlas.ti version 6® software. Results Five focus groups were held (n = 41). The main themes that emerged from the discussions were the passive role of users in decisions and delegated decision-making, based on their trust in the health professional. Users' passive role limits their opportunities for participation in clinical decision-making, ceding power to the health professional. However, establishing a therapeutic partnership allows users to feel that they are being treated as unique individuals whom the professional listens to and respects, ensuring that the decisions of the health team can be trusted, since they look out for the users' real interests. Conclusion Users' participation in clinical encounters is still limited in Chile. However, bolstering that participation is essential for increasing user satisfaction and promoting people-centered care.


RESUMO Objetivo Descrever a experiência de participação nas decisões clínicas dos usuários dos Centros de Saúde Familiar (CESFAM) de atenção primária à saúde. Métodos Estudo qualitativo descritivo conduzido em grupos de discussão formados por usuários dos CESFAM da região sudeste da cidade de Santiago, no Chile. Foi realizada uma análise temática das informações com o uso do programa de software ATLAS.ti® versão 6. Resultados Foram formados cinco grupos de discussão (n = 41). Os principais tópicos abordados foram o papel passivo dos usuários nas decisões e a tomada de decisão delegada aos profissionais na base da confiança. O papel passivo restringe as oportunidades de participação dos usuários nas decisões clínicas e mantém o poder nas mãos dos profissionais da saúde. Apesar disso, ao ser criada uma aliança terapêutica, os usuários se sentem tratados como indivíduos únicos que são ouvidos e respeitados pelos profissionais, o que assegura que as decisões tomadas pela equipe de saúde sejam confiáveis porque protegem os reais interesses dos usuários. Conclusão Os usuários ainda têm pouca participação nas interações clínicas no Chile. Porém, é fundamental reforçar esta participação para melhorar a satisfação do usuário e promover uma atenção mais centrada na pessoa.


Subject(s)
Humans , Primary Health Care , Primary Health Care/organization & administration , Community Participation , Decision Making , Chile , Decision Making
8.
Rev. méd. Chile ; 145(7): 879-887, jul. 2017. tab
Article in Spanish | LILACS | ID: biblio-902561

ABSTRACT

Background: The Family and Community Health Model is based on three essential principles: user-centered care, comprehensive care and continuity of care. Aim: To describe the attributes and characteristics of the guiding principles of the Family and Community Health Model (FHM) from the perspective of primary care experts. Material and Methods: This was a qualitative study. An electronic Delphi was conducted with 29 national experts on primary care. Results: The experts agree that user centered care must be based on a psycho-social model integrating the multiple factors that influence health problems. It also must integrate patients' individual features, family and environmental issues. The proposed actions promote shared decision making. To promote integral care, anticipatory guidelines should be expanded and health care of patients with chronic conditions should be improved. Continuity of care should be promoted increasing working hours of medical centers and easing access to integrated electronic medical records, thereby generating efficient links between the different care levels. Conclusions: The results of the study can guide the clinical and administrative management of health teams, allowing the strengthening of primary health care according to the local realities.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Primary Health Care , Family Health , Community Health Services , Patient-Centered Care , Surveys and Questionnaires , Qualitative Research
9.
Rev. méd. Chile ; 144(5): 585-592, mayo 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-791045

ABSTRACT

Background: The integral Model of Family and Community Health care is based on three essential principles: patient centered care, comprehensive care and continuity of care. Aim: To know the perception of primary care clinic users about the elements that should be considered in a patient centered integrated health care. Material and Methods: Ten males and 31 females aged 18 to 78 years, users of two public family primary care centers participated in focus groups, which were recorded. A qualitative descriptive research design based on content analysis according to Krippendorf was done. Results: Seven issues emerged from the description of patients’ experiences: professional-patient relationship, fragmentation of care, continued care with the same professional, promotion and prevention, availability of services and patient records. Conclusions: There are difficulties to install an integral model of family and community health care. The concerns raised by participants should be considered in order to modify the design of these models.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Perception , Primary Health Care/standards , Public Opinion , Community Health Services/standards , Patient-Centered Care/standards , Professional-Patient Relations , Attitude of Health Personnel , Chile , Focus Groups , Qualitative Research
10.
Rev. chil. pediatr ; 86(3): 214-218, jun. 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-760117

ABSTRACT

Las hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2 mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina. Las hiperfenilalaninemias se clasifican en benignas o leves, y las fenilcetonurias en leves, moderadas y clásicas. Debido a que su detección más allá del periodo neonatal causa retardo mental severo, desde 1992 en Chile su detección, junto con la del hipotirodismo congénito, es parte del Programa Nacional de Pesquisa Neonatal. Este artículo pretende responder las preguntas más comunes que se puede hacer el pediatra cuando enfrenta a un paciente con hiperfenilalaninemias.


Hyperphenylalaninaemias are defined by a blood phenylalanine over 2 mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias.


Subject(s)
Humans , Infant, Newborn , Phenylalanine/blood , Phenylketonurias/diagnosis , Neonatal Screening/methods , Pediatrics , Phenylalanine Hydroxylase/genetics , Phenylalanine Hydroxylase/metabolism , Phenylalanine/metabolism , Phenylketonurias/complications , Phenylketonurias/genetics , Tyrosine/metabolism , Chile , Delayed Diagnosis , Mutation
11.
Rev. peru. med. exp. salud publica ; 30(4): 691-697, oct.-dic. 2013. ilus, graf
Article in Spanish | LILACS, LIPECS | ID: lil-698133

ABSTRACT

El modelo de atención en salud paternalista está derivando hacia modelos más participativos, como lo es la toma de decisiones compartidas (TDC), en el que se considera al paciente como agente responsable y autónomo. La TDC representa un enfoque terapéutico en el que profesionales y pacientes comparten la mejor evidencia científica disponible para tomar una decisión, incorporando los valores y preferencias del paciente. Este intercambio de información puede facilitarse mediante el uso de herramientas de ayuda para la TDC, que han demostrado ser efectivas para mejorar el conocimiento, la satisfacción del paciente, y reducir el conflicto decisional. En este sentido, las habilidades comunicacionales ejercen un rol fundamental en el establecimiento de la relación profesional - paciente, facilitando el intercambio de información y preferencias de manera efectiva y respetuosa. Esta aproximación terapéutica podría apoyar la reducción de las disparidades en salud que prevalecen en Latinoamérica, al facilitar que las personas puedan participar informada y activamente en el cuidado de su salud.


The healthcare model is shifting from a paternalistic towards a more inclusive and participative approach, such as shared decision making (SDM). SDM considers patients as autonomous and responsible agents. SDM is a therapeutic approach where healthcare providers and patients share the best evidence available to make a decision according to the values and preferences of the patient. Decision aids are tools that can facilitate this information exchange. These tools help patients to increase knowledge about options, reduce decisional conflict and improve satisfaction. Additionally, communication skills play a key role within the professional-patient relationship, as they facilitate sharing information and preferences in an effective and respectful manner. This therapeutic approach could support the reduction of health inequalities that affect Latin America, as it promotes an active and informed participation of patients in their healthcare process.


Subject(s)
Humans , Decision Making , Delivery of Health Care/methods , Patient Participation , Physician-Patient Relations
12.
Rev. chil. infectol ; 30(6): 638-643, dic. 2013. ilus
Article in Spanish | LILACS | ID: lil-701713

ABSTRACT

Background: Late diagnosis of HIV is a problem of international and national relevance. Despite the availability of HIV testing in primary health care, it is often performed too late. Aim: To identify facilitators and barriers to early HIV testing in primary health care. Methods: Four databases of nursing, psychological, biomedical, and health related professions areas were examined with a review protocol. Results were grouped into two main subjects: facilitators and barriers occurring among the population, among health care workers, and within primary health care centers. Results: Perception of risk behaviors, self-care, social support, trust, confidentiality of the examination, the offer of the examination, and the knowledge of early treatment have been recognized as facilitators for taking the exam. The lack of information about the test and the disease are recognized as the main barrier to access the test. This information is a cornerstone to design and implement strategies to increase the number of people taking voluntarily HIV testing.


Introducción: El diagnóstico tardío de la infección por VIH es un problema universal. A pesar de la disponibilidad del test de ELISA para el diagnóstico de esta infección en la atención primaria de salud, las personas continúan tomándoselo tardíamente. Objetivo: Conocer los factores que facilitan o dificultan que las personas accedan oportunamente al examen en la atención primaria de salud. Métodos: Cuatro bases de datos del área de la enfermería, psicológica, salud biomédica y profesiones afines (años 2001-2012) fueron examinadas con un protocolo de revisión. Resultados: De 195 artículos detectados, 15 cumplieron con los criterios de inclusión y fueron agrupados en dos grandes temas: elementos facilitadores y elementos obstaculizadores de la persona, de los profesionales y de los centros de atención primaria de salud. Percepción de conductas de riesgo, autocuidado, apoyo social, la confianza, confidencialidad del examen, el ofrecimiento del examen y el conocimiento de un tratamiento oportuno han sido reconocidos como uno de los elementos facilitadores para la toma del examen. La falta de información sobre el test y la enfermedad son reconocidas como los principales obstaculizadores para acceder al test. Discusión: La información obtenida es un pilar fundamental para diseñar e implementar estrategias destinadas a aumentar el número de personas que solicitan voluntariamente al examen.


Subject(s)
Humans , Health Knowledge, Attitudes, Practice , Health Services Accessibility , HIV Infections/diagnosis , Patient Acceptance of Health Care , Primary Health Care , HIV Infections/psychology
13.
Rev. Soc. Psiquiatr. Neurol. Infanc. Adolesc ; 23(2): 93-103, ago. 2012. ilus, tab
Article in Spanish | LILACS | ID: lil-677246

ABSTRACT

Resumen. El Síndrome X Frágil (SXF) constituye la causa más frecuente de retraso mental hereditario y autismo. Los individuos con mutación completa (MC) presentan alteraciones clínicas que incluyen: déficit cognitivo y atencional, hiperactividad, autismo y problemas emocionales. Los portadores de premutación (PM) pueden afectarse del síndrome de temblor y ataxia asociado a X frágil (FXTAS); el 30 por ciento de las mujeres con PM presentan insuficiencia ovárica prematura(FXPOI). Cuando un individuo presenta una MC es frecuente encontrar otros familiares afectados. El fenotipo al nacer no es evidente, se sugiere que debe hacerse el diagnóstico entre los35-37 meses, sin embargo, la edad de diagnóstico en Chile es en promedio de 8 +/- 5.8 años. El centro de diagnóstico, tratamiento y seguimiento de pacientes con síndrome X frágil (CDTSXF)es un centro multidisciplinario, que incluye diagnósticos moleculares, genetistas médicos, asesoramiento genético, neurólogos, terapeutas ocupacionales, fonoaudiólogo, evaluaciones nutricionales y psicológicas para las familias afectadas. Desde el año 2010 hemos asistido a 28familias y detectado un número significativo de afectados debido a la detección en cascada. Se ha diagnosticado a 63 probandos, 57 MC y ocho mosaicos de MC/PM. Entre las madres portadoras 37 son PM y dos presentaron una MC. En 9/28 familias había un adulto mayor con FXTAS, diez familias presentaron mujeres con FXPOI. 41/63 probandos han participado denle el protocolo multidisciplinario del CDTSXF. Los resultados de este enfoque multidisciplinario nos motiva a seguir trabajando en mejorar el comportamiento y desarrollo cognitivo de los pacientes y atender las principales necesidades de las familias afectadas.


Fragile X Syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. Individuals with a full mutation (FM) present disabilities including: cognitive and attention deficit, hyperactivity, autism, and other emotional problems. Carriers of a premutation (PM) may be affected by fragile X associated tremor/ataxia syndrome (FXTAS) and primary ovarian insufficiency (FXPOI) in 30 percent of PM women. Therefore, multigenerational family involvement is commonly found when a proband is diagnosed with a FXS mutation. FXS has no obvious phenotype at birth, it is suggested that the diagnosis should be made at 35-37 months; the age of diagnosis in Chile is on average 8+/-5.8 yo. The center for diagnosis, treatment and monitoring of patients with fragile X syndrome (CDTTRABAJOMFXS), is a multidisciplinary center that includes molecular testing, medical geneticists, genetic counseling, neurologists, occupational therapists, physical therapists, and nutritional and psychological interventions to families with an FM proband. Since 2010, we have assisted 28 families with a total of 63 diagnosed probands using specific PCR and Southern blot tests. Among them, 57 had a FM and eight had a mosaic FM/PM. Among the mothers 37 are PM carriers and two presented a FM. An older adult with FXTAS was present in 9/28 families; ten families presented women with FXPOI. A significant number of affected family members have been detected through cascade screening. Among the probands 41 of 63 have received some of the multidisciplinary diagnostic and interventions. The results of this multidisciplinary work allow us to put forward more effort towards improving behavior and cognitive development of patients as well as trying to solve families’ main needs.


Subject(s)
Humans , Male , Female , Child , Patient Care Team , Fragile X Syndrome/diagnosis , Fragile X Syndrome/therapy , Clinical Protocols , Cognition Disorders , Early Intervention, Educational , Fragile X Mental Retardation Protein , Language Disorders , Mutation , Nutritional Status , Occupational Therapy , Speech, Language and Hearing Sciences , Fragile X Syndrome/genetics
14.
Rev. Esc. Enferm. USP ; 45(3): 758-763, jun. 2011. tab
Article in English | LILACS, BDENF | ID: lil-591425

ABSTRACT

The objective of this study is to examine the literature and identify most salient outcomes of early postnatal discharge for women, newborns and the health system. An electronic search strategy was designed including the following sources: Web of Science, Scopus, ProQuest and PubMed/MEDLINE, using the following terms: (early AND discharge) OR (length AND stay) AND (postpartum OR postnatal) AND (effect* OR result OR outcome). Content analysis was used to identify and summarise the findings and methods of the research papers. The evidence available is not enough to either reject or support the practice of early postnatal discharge; different studies have reported different outcomes for women and newborns. The need of systematic clinical research is discussed.


O objetivo deste estudo é examinar a literatura e identificar os resultados mais relevantes da alta precoce pós-parto para as mulheres, recém-nascidos e o sistema de saúde. Uma estratégia de busca eletrônica foi projetada, incluindo as seguintes fontes: Web of Science, Scopus, ProQuest e PubMed/MEDLINE utilizando-se os seguintes termos: (precoce e alta hospitalar), ou (duração e permanência) e (pós-parto ou pós-natal) e (efeito de resultado ou * ou resultado). A análise de conteúdo foi utilizada para identificar e sintetizar os resultados e os métodos dos trabalhos de investigação. A evidência disponível não é suficiente para rejeitar ou apoiar a prática da alta precoce no pós-parto porque os estudos apresentaram resultados diferentes para as mulheres e os recém-nascidos. A necessidade de realizar estudos clínicos, de forma sistemática, é discutida.


Este estudio objetivó examinar la literatura e identificar los resultados más relevantes del alta precoz postparto para las mujeres, recién nacidos y el sistema de salud. Una estrategia de búsqueda electrónica fue proyectada, incluyendo las siguientes fuentes: Web of Science, Scopus, ProQuest y PubMed/MEDLINE utilizando los siguientes términos: (precoz y alta hospitalaria), o (duración y permanencia) y (postparto o post-natal) y (efecto de resultado o resultado). El análisis de contenido fue utilizado para identificar y sintetizar los resultados y los métodos de los trabajos de investigación. La evidencia disponible no es suficiente para rechazar o apoyar la práctica del alta precoz en el postparto porque los estudios presentaron resultados diferentes para las mujeres y los recién nacidos. La necesidad de realizar estudios clínicos, de forma sistemática. es discutida.


Subject(s)
Female , Humans , Infant, Newborn , Length of Stay/statistics & numerical data , Outcome Assessment, Health Care , Patient Discharge , Postnatal Care/standards
15.
Rev. chil. pediatr ; 73(6): 590-594, nov.-dic. 2002. graf
Article in Spanish | LILACS | ID: lil-342294

ABSTRACT

La tirosinemia I es una enfermedad metaból ica de herencia recesiva, causada por la diferencia de la enzima terminal de la vía de degradación de la tirosina,llamada fumarilacetoacetato hidrolasa. Compromete principalmente el hígado, sistema nervioso central y riñones. Objetivo: Dada la baja frecuencia de tirosinemia tipo I en nuestro medio, consideramos importante su revisióna raíz de un caso clínico, para optimizar la sospecha diagnóstica frente a la presentaciónclínica y de laboratorio, e iniciar así su tratamiento en forma precoz, mejorando el pronóstico. Caso clínico: reportamos un lactante de 1 mes 11 días, que ingresó al Hospital Padre Hurtado, con el diagnóstico de síndrome febril sin foco, acompañado de vómitos y distensión abdominal. Al ingreso destacó hematuria macroscópica y masa palpable en fosa renal izquierda. Se realizó ecografía abdominal destacando nefrocalcinosis y nefromegalia bilateral y exámenes de laboratorio que muestran hipercalciuria, hipercalcemia, hipofosfemia, hipoalbuminemia, trnasaminasas, LDH y fosfatasas alcalinas elevadas, bilirrubian con leve aumento de predominio directo, reabsorcióntubular de fosfato disminuida, PTH normal, radiografías con signos de raquitismo, cultivos negativos. El paciente evolucionó con distensión abdominal, evidenciandose ascitis moderada en una nueva ecografía abdominal. En el perfil hepático completo destacó protombina 10 por ciento, TTPK de 112 segundos. Ante la fuerte sospecha de Tirosinemia se solicitan alfa feto proteínas que muestran valor muy elevado y aminoacidemia anormal compatible con el diagnóstico. Conclusiones: La revisión de la literatura en relación a esta patología plantea su amplia gama de presentación clínica y las nuevas opciones de tratamiento que han mejorado el pronóstico de estos pacientes, cuales disponemos en nuestro país y fueron aplicadas en este paciente


Subject(s)
Humans , Male , Infant , Amino Acid Metabolism, Inborn Errors/diagnosis , Tyrosine , Tyrosinemias , Breast-Milk Substitutes , Clinical Evolution , Amino Acid Metabolism, Inborn Errors/physiopathology , Amino Acid Metabolism, Inborn Errors/drug therapy , Hematuria , Nephrocalcinosis , Prognosis , Tyrosine , Tyrosinemias
16.
Rev. chil. obstet. ginecol ; 52(2): 120-9, 1987. tab
Article in Spanish | LILACS | ID: lil-48147

ABSTRACT

Se estudiaron 234 casos de síndromes hipertensivos del embarazo (SHE), ocurridos en la Maternidad del Hospital J. J. Aguirre en el año 1982, y se les comparó con 230 controles ubicados con la técnica de "matching", controlando edad, paridad y mes del parto. Los resultados confirman la mayor frecuencia de este síndrome en mujeres jóvenes, 20 años, primíparas, con sobrepeso y con antecedentes personales de hipertensión. Encontramos también una mayor incidencia en los meses de invierno. Se encuentran una mayor frecuencia de parto con fórceps y cesáreas. Con respecto a los recién nacidos encontramos mayor frecuencia de bajo peso al nacer, de pretérmino, de pequeños para la edad de gestación, y una mayor frecuencia de patologías. El bajo peso al nacer es mayor en los S.H.E. severos, como asimismo cuando se presentan en mujeres enflaquecidas o subnormales


Subject(s)
Pregnancy , Adolescent , Adult , Humans , Female , Hypertension/epidemiology , Pregnancy Complications , Birth Weight , Infant, Low Birth Weight
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