Multidisciplinary approach to inherited causes of dual sensory impairment.

PURPOSE: This article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach. METHODS: A narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective. RESULTS: There are a wide range of dual sensory impairment (DSI), commonly referred to as blindness and deafness. While Usher syndrome is the most frequent genetic cause, other genetic syndromes such as Alport syndrome or Stickler syndrome can also lead to DSI. Various retinal phenotypes, including pigmentary retinopathy as seen in Usher syndrome, vitreoretinopathy as in Stickler syndrome, and macular dystrophy as in Alport syndrome, along with type of hearing loss (sensorineural or conductive) and additional systemic symptoms can aid in diagnostic suspicion. A thorough ophthalmologic and otorhinolaryngologic examination can help guide diagnosis, which can then be confirmed with genetic studies, crucial for determining prognosis. Effective hearing rehabilitation measures, such as hearing implants, and visual rehabilitation measures, such as low vision optical devices, are crucial for maintaining social interaction and proper development in these patients. CONCLUSIONS: While Usher syndrome is the primary cause of inherited dual sensory impairment (DSI), other genetic syndromes can also lead to this condition. A proper diagnostic approach based on retinal phenotypes and types of hearing loss can aid in ruling out alternative causes. Multidisciplinary approaches can assist in reaching a definitive diagnosis, which has significant prognostic implications.

Timeline of Adverse Events during Immune Checkpoint Inhibitors for Advanced Melanoma and Their Impacts on Survival.

Immune-related adverse events (irAEs) are frequent and could be associated with improved response to immune checkpoint inhibitors (ICIs). A prospective cohort of advanced melanoma patients receiving ICI as first-line therapy was retrospectively reviewed (January 2011−February 2019). A total of 116 of 153 patients presented with at least one irAE (75.8%). The most frequent irAEs were dermatological (derm irAEs, 50%), asthenia (38%), and gastrointestinal (29%). Most irAEs appeared within the first 90 days, while 11.2% appeared after discontinuation of the therapy. Mild grade 1−2 derm irAEs tended to appear within the first 2 months of therapy with a median time of 65.5 days (IQR 26-139.25), while grade 3−4 derm irAEs appeared later (median 114 days; IQR 69-218) and could be detected at any time during therapy. Only derm irAE occurrence was related to improved survival (HR 6.46). Patients presenting derm irAEs showed better 5-year overall survival compared to those with no derm irAEs (53.1% versus 24.9%; p < 0.001). However, the difference was not significant when adjusting for the duration of therapy. In conclusion: the timeline of immune-related-AEs differs according to the organ involved. The (apparent) improved survival of patients who present derm AEs during immunotherapy could be partially explained by longer times under treatment.

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.

PURPOSE: To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB). METHODS: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system. RESULTS: A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease. CONCLUSION: ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease.

Historia de la anticoncepción y planificación familiar: una revisión narrativa / História da contracepção e do planeamento familiar: revisão narrativa / History of contraception and family planning: a narrative review

Introduction: Contraception has played a central role in much of human history. Since the separation of reproduction from sexuality, in addition to preventing sexually transmitted diseases, contraceptive methods have been used as a tool for birth control, varying in their presentation throughout history, influenced by socio-economic and cultural processes. Method: A narrative review was conducted in the biomedical databases: Scielo, Pubmed, Dialnet, CUIDEN and Google Scholar. The literature search was conducted between August and December 2021. Results: Initial search strategies identified a total of 48247 articles. Once exclusion criteria were applied, 19 journal articles (6 in Scielo, 3 in Pubmed, 2 in Dialnet, 2 in CUIDEN, and 6 in Google Scholar) and 2 books were selected. Conclusions: The resources and culture of society have conditioned sexuality and reproduction in each historical moment. In the 20th century, the struggle for women's rights and freedom over birth control began, thus implementing family planning, which has since provided information about contraceptive methods and facilitated free and confidential access to them.(AU)

Introducción: La anticoncepción ha sido protagonista de gran parte de la historia del ser humano. Desde que se separó la reproducción de la sexualidad, además de para prevenir enfermedades de transmisión sexual, los métodos anticonceptivos han sido utilizados como herramienta de control de natalidad, variando su presentación a lo largo de la historia, influenciada por procesos socioeconómicos y culturales. Método: Se realizó una revisión narrativa en las bases de datos biomédicas: Scielo, Pubmed, Dialnet, CUIDEN y Google Scholar. La búsqueda bibliográfica se realizó entre los meses de Agosto y Diciembre de 2021. Resultados: Las estrategias de búsqueda iniciales identificaron un total de 48247 artículos. Una vez aplicados los criterios de exclusión, se seleccionaron 19 artículos de revista (6 en Scielo, 3 en Pubmed, 2 en Dialnet, 2 en CUIDEN y 6 en Google Scholar) y 2 libros. Conclusiones: Los recursos y la cultura de la sociedad han sido condicionantes de la sexualidad y la reproducción en cada momento histórico. En el s.XX se inició la lucha por el derecho y libertad de la mujer sobre el control de la natalidad, implementándose así la planificación familiar, que, desde entonces, proporciona información sobre los métodos anticonceptivos y facilita su acceso de forma libre y confidencial.(AU)

Introdução: A contracepção tem desempenhado um papel central em grande parte da história humana. Desde a separação da reprodução da sexualidade, para além da prevenção de doenças sexualmente transmissíveis, têm sido utilizados métodos contraceptivos como instrumento de controlo da natalidade, variando na sua apresentação ao longo da história, influenciados por processos socioeconómicos e culturais. Método: Foi realizada uma revisão narrativa nas bases de dados biomédicas: Scielo, Pubmed, Dialnet, CUIDEN e Google Scholar. A pesquisa bibliográfica foi conduzida entre Agosto e Dezembro de 2021. Resultados: As estratégias iniciais de pesquisa identificaram um total de 48247 artigos. Uma vez aplicados os critérios de exclusão, foram seleccionados 19 artigos de revistas (6 no Scielo, 3 no Pubmed, 2 no Dialnet, 2 no CUIDEN e 6 no Google Scholar) e 2 livros. Conclusões: Os recursos e a cultura da sociedade têm condicionado a sexualidade e a reprodução em cada momento histórico. No século XX, começou a luta pelos direitos e liberdade das mulheres sobre o controlo da natalidade, implementando assim o planeamento familiar, que, desde então, fornece informações sobre métodos contraceptivos e facilita o acesso livre e confidencial aos mesmos.(AU)

Influencia de la cultura en la menopausia: revisión de literatura / Influence of culture on menopause: literature review / Influência da cultura na menopausa: revisão de literatura

INTRODUCCIÓN: El climaterio es un periodo de duración variable en la vida de la mujer que cursa con importantes cambios a nivel endocrino, físico y psicológico, además está influenciado por temas culturales y sociales. OBJETIVO: El objetivo es conocer los estereotipos de género sobre la menopausia en los diferentes contextos socioculturales. Método y material. Se realizó una revisión bibliográfica en las bases de datos biomédicas: CINAHL, Google Académico, PubMed, Cuiden, Dialnet, SCOPUS. RESULTADOS: Las estrategias iniciales de búsqueda identificaron un total de 5892, de los cuales 217 fueron extraídos de CINHAL, 2861 de Google Académico, 2584 de PubMed, 38 de Cuiden, 5 de Dialnet y 187 de SCOPUS. Finalmente, tras aplicar los criterios de exclusión, se obtuvo un total de 17 artículos. CONCLUSIÓN: No es posible estudiar el ciclo vital de la menopausia teniendo en cuenta únicamente el modelo biomédico. Se ha demostrado que las diferencias culturales influyen sobre la percepción, las experiencias y los síntomas relacionados con el climaterio

INTRODUCTION: The climacteric is a period of variable duration in a woman's life which is characterized by important changes at the endocrine, physical and psychological level. In addition, it is influenced by cultural and social issues.Objective. The aim is to know the gender stereotypes about menopause in different sociocultural contexts. Method and material. A bibliographic review was done in the biomedical databases: CINAHL, Google Scholar, PubMed, Cuiden, Dialnet, SCOPUS.Results. The initial search strategies identified a total of 5892, of which 217 were extracted from CINHAL, 2861 from Google Scholar, 2584 from PubMed, 38 from Cuiden, 5 from Dialnet and 187 from SCOPUS. Finally, after applying the exclusion criteria, a total of 17 articles were obtained. CONCLUSION: It is not possible to study the life cycle of menopause by taking into account the biomedical model only. It has been shown that cultural differences influence the perception, experiences and symptoms related to the climacteric

INTRODUÇÃO: O climatério é um período de duração variável na vida da mulher que acompanha importantes mudanças nos níveis endócrino, físico e psicológico, além disso, é influenciado por questões culturais e sociais.Objetivo. O objetivo é conhecer os estereótipos de gênero sobre a menopausa em diferentes contextos socioculturais. Método e material. Foi realizada uma revisão bibliográfica nas bases de dados biomédicas: CINAHL, Google Acadêmico, PubMed, Cuiden, Dialnet, SCOPUS.Resultados. As estratégias iniciais de busca identificaram um total de 5892, das quais 217 foram extraídas do CINHAL, 2861 do Google Acadêmico, 2584 do PubMed, 38 do Cuiden, 5 do Dialnet e 187 do SCOPUS. Finalmente, após a aplicação dos critérios de exclusão, foram obtidos 17 artigosConclusão. Não é possível estudar o ciclo de vida da menopausa levando em consideração apenas o modelo biomédico. Tem sido demonstrado que as diferenças culturais influenciam a percepção, experiências e sintomas relacionados ao climatério

Análisis del proceso de divorcio como transición de salud según la teoría de las transiciones de Alaf Meleis / Analysis of the divorce process as health transition according to the theory of Alaf Meleis transitions / Análise do processo de divórcio como transição de saúde segundo a teoria das transições de Alaf Meleis

El objetivo general de nuestro estudio es analizar las transiciones producidas durante un proceso de divorcio, mediante la Teoría de las transiciones de Alaf Ibraim Meleis.como objetivos específicos planteamos la identificación de los elementos que caracterizan la vivencia de la transición del divorcio y si esta vivencia es o no saludable para la persona. Realizamos un estudio de caso fenomenológico cualitativo en una persona que vivía un proceso de divorcio. Para recolectar los datos se utilizó una conversación en clima de confianza iniciada con la pregunta: "¿Estás viviendo un periodo de cambios?". Se favoreció la libre narración y la expresión de inquietudes y sentimientos. El procesamiento de datos se realiza mediante análisis de contenido de la conversación transcrita, identificando la naturaleza, condiciones e indicadores de la transición de divorcio. Los profesionales de enfermería podemos y debemos realizar intervenciones dirigidas a proporcionar seguridad, autoestima y confianza en la persona inmersa en un proceso de divorcio. Se concluye que la teoría de las transiciones ofrece una perspectiva holística de la persona que experimenta una transición en su vida. De este modo, la teoría guía a la enfermera a promover en las personas respuestas saludables a la transición

The general goal of this study is to analyze the transitions produced during a divorce process using the Theory of transitions of Alaf Ibraim Meleis. Our specific goals are two:1) Identify the elements that characterize the experience of the divorce transition, and 2) examine if this experience is healthy for the person or not. A qualitative phenomenological case study was conducted in a person who was experiencing a divorce process. To collect the data, a conversation was conducted in a climate of trust that began with the question: "Are you living through a period of changes?". Free narration and the expression of concerns and feelings were favored. Data processing was done through content analysis of the transcribed conversation, identifying the nature, conditions and indicators of the divorce transition. It is suggested that nursing professionals can and should perform interventions aimed at providing security, self-esteem and confidence to the person experiencing a divorce process. This research concludes that the theory of transitions offers a holistic perspective of the persons experiencing a transition in their lives. It is proposed that the Theory guides the nurse to promote healthy responses to the transition in people

O objetivo geral de nosso estudo é analisar as transições produzidas durante um processo de divórcio, através da Teoria das Transições de Alaf Ibraim Meleis.como objetivos específicos, propomos a identificação dos elementos que caracterizam a experiência da transição do divórcio e se esta experiência é ou não saudável para a pessoa. Realizamos um estudo de caso fenomenológico qualitativo em uma pessoa que estava passando por um processo de divórcio. Para coletar os dados, uma conversa foi usada em um clima de confiança que começou com a pergunta: "Você está vivendo um período de mudanças?". A narração livre e a expressão de preocupações e sentimentos foram favorecidas. O processamento dos dados é feito através da análise de conteúdo da conversa transcrita, identificando a natureza, condições e indicadores da transição do divórcio. Os profissionais de enfermagem podem e devem realizar intervenções que visem proporcionar segurança, autoestima e confiança na pessoa imersa em um processo de divórcio. Conclui-se que a teoria das transições oferece uma perspectiva holística da pessoa que experimenta uma transição em sua vida. Desta forma, a teoria orienta o enfermeiro a promover respostas saudáveis à transição nas pessoas

Factores predictores y calidad de vida relacionada con la salud en pacientes con Miastenia Gravis. Revisión sistemática / Predictive factors and health-related quality of life in patients with Myasthenia Gravis. A systematic review

Introducción. La Miastenia Gravis es un trastorno autoinmune que afecta a los componentes de la unión neuromuscular y se caracteriza por grados fluctuantes de debilidad y fatigabilidad de los músculos, influyendo negativamente en la calidad de vida relacionada con la salud. Objetivo. Nuestro objetivo fue describir los factores que afectan a la calidad de vida relacionada con la salud en pacientes diagnosticados de Miastenia Gravis. Metodología. Este estudio es una revisión sistemática elaborada según indicaciones del Manual de Cochrane e informe PRISMA. Se realizó una búsqueda Pubmed, CINAHL, IBECS, IME, SCOPUS y Dialnet, incluyéndo-se artículos publicados entre 2001 y 2018 utilizando las palabras clave «miastenia gravis», «calidad de vida» y «factores predictores». Se aplicaron criterios de selección y exclusión, así como la valoración de calidad metodológica mediante el instrumento Effective Public Health Practice Project. Resultados. Se seleccionaron un total de 27 artículos que hacen referencia a los factores que afectan a la calidad de vida relacionada con la salud en pacientes con Miastenia Gravis. Conclusiones. Los factores fuertes y predictores encontrados que influyen en una peor calidad de vida relacionada con la salud en los pacientes con Miastenia Gravis son: sexo, edad, duración de la patología, presencia del anticuerpo MuSK, severidad de los síntomas, presencia de debilidad muscular y fatiga, presencia de movilidad limitada tras el ejercicio físico, enfermedades comórbidas, trastornos del sueño, situación laboral, nivel educativo, estado civil, apoyo social percibido, ingresos económicos, efectos secundarios de la medicación y salud mental

Introduction. Myasthenia Gravis is an autoimmune disorder that affects the components of the neuromuscular junction and is characterized by fluctuating degrees of weakness and fatigability of the muscles, negatively influencing the health-related quality of life. Objective. We aimed to describe the factors that affect the health-related quality of life in patients diagnosed with Myasthenia Gravis. Methodology. This study is a systematic review prepared according to the Cochrane Handbook and the PRIS-MA report. A search of the Pubmed, CINAHL, IBECS, IME, SCOPUS and Dialnet was conducted for the period from 2001 and 2018 using keywords «myasthenia gravis», «quality of life» and «factors predictors». Selection and exclusion criteria were applied, as well as methodological quality assessment through the Effective Public Health Practice Project instrument. Results. A total of 27 articles were selected, and they refer to the factors that affect the health-related quality of life in patients with Myasthenia Gravis. Conclusions. The strong factors and predictors found that influence a wor-se health-related quality of life with Myasthenia gravis are: sex, age, duration of the disease, presence of the MuSK antibody, severity of the symptoms, presence of muscle weakness and fatigue, presence of limited mobility after physical exercise, comorbid diseases, sleep disorders, employment situation, educational level, ma-rital status, perceived social support, income, side effects of medication and mental health

Consecuencias y efectos del pinzamiento precoz o tardío del cordón umbilical / Consequences and effects of an early or delayed numbilical cord clamping

OBJETIVO: describir las consecuencias y/o efectos de las diferentes estrategias de pinzamiento y ordeño del cordón umbilical en neonatos a término y prematuros. MÉTODO: se realizó una revisión narrativa de la literatura en la que se consultaron las bases de datos Cuidatge, Pubmed, CINAHL,IBECS y Cochrane Library plus. Se incluyeron artículos de revisiones, revisiones sistemáticas, meta análisis y artículos originales, escritos en español e inglés, publicados entre enero de 2009 y enero de 2015 y con independencia del país en el que se había desarrollado el estudio. RESULTADOS: en neonatos a término, a nivel hematológico, se ha observado que realizar un pinzamiento tardío del cordón umbilical en neonatos a término, les aporta un aumento a corto plazo de hemoglobina y hematocrito, y aunque esta diferencia no es notable a largo plazo, se observa un aumento de la ferritina, una reducción de la incidencia de la anemia infantil y de la necesidad de transfusiones sanguíneas. El pinzamiento tardío en prematuros puede conllevar un aumento del flujo sanguíneo de la vena cava superior y que puede tener como consecuencia una disminución en la incidencia de hemorragias intraventriculares, un menor riesgo de padecer enterocolitis necrotizante y una reducción de la aparición de sepsis tardía. CONCLUSIONES: no parece existir evidencia científica que justifique el pinzamiento del cordón umbilical precoz en neonatos a término y prematuros y cada vez hay más estudios que argumentan los beneficios a corto y largo plazo que aporta al recién nacido demorar el tiempo del pinzamiento del cordón umbilical. Sería necesario, así mismo, la creación de guías de práctica clínica que regulen esta práctica en todos los centros asistenciales

OBJECTIVE: to describe the consequences and/or effects of the different strategies for clamping and «milking» the umbilical cord interm and preterm newborns. METHOD: a narrative review of literature was conducted, using the Cuidatge, Pubmed, CINAHL, IBECS and Cochrane Library plus data bases. This included articles of reviews, systematic reviews, meta-analysis and original articles, written in Spanish and English, published between January, 2009 and January, 2015, and regardless of the country where the study had been developed. RESULTS: it has been observed, at a haematological level, that a delayed clamping of the umbilical cord in term newborns will lead to an increase in haemoglobin and hematocrit at shot term; and even though this difference won't be noticeable at long term, an increase in ferritin is observed, as well as a reduction in the incidence of childhood anemia and in the need for blood transfusions. The delayed clamping in preterm newborns can entail a blood flow increase in the upper cava vein, and its consequence can be a reduction in the incidence of intraventricular haemorrhages, a lower risk of suffering necrotizing enterocolitis, and a reduction in the development of delayed sepsis .CONCLUSIONS: there does not seem to be any scientific evidence justifying an early clamping of the umbilical cord in term and preterm newborns, and there are increasingly more studies arguing for the benefits at short and long term offered to newborns by a delay in the time of umbilical cord clamping. At the same time, it would be necessary to develop clinical practice guidelines in order to regulate this practice in all healthcare centres