Rabdomiólisis en un paciente con enfermedad de McArdle / Rhabdomyolysis in a patient with McArdle's disease

INTRODUCCIÓN: La enfermedad de McArdle o glucogenosis tipo V es una enfermedad rara debida al déficit de miofosforilasa muscular, lo que produce incapacidad para degradar el glucógeno a este nivel. Los pacientes presentan fatiga, dolor y calambres de forma habitual. Además, tras un ejercicio intenso o situación estresante, están expuestos a lisis celular. Esto se puede manifestar en forma de mioglobinuria y rabdomiólisis, síndrome clínico potencialmente grave si no se trata con rapidez. VALORACIÓN: Se presenta el caso de un varón de 38 años con enfermedad de McArdle y rabdomiólisis secundaria a la realización de ejercicio, que precisó atención en el Servicio de Urgencias durante 24 horas, así como su posterior ingreso en Unidad de Hospitalización. Se realizó una valoración enfermera siguiendo el modelo de cuidados de Virginia Henderson. DIAGNÓSTICO: Se priorizaron los diagnósticos enfermeros: (00016) deterioro de la eliminación urinaria, (00092) intolerancia a la actividad, (00093) fatiga y (00132) dolor agudo; y la complicación potencial: riesgo de fallo renal agudo. PLANIFICACIÓN: Se elabora Plan de Cuidados siguiendo la metodología NANDA-NIC-NOC, con especial atención a las alteraciones en la eliminación y en el sistema musculoesquelético. Se realiza monitorización de la diuresis. Se realiza reposición de líquidos y se administra medicación analgésica. DISCUSIÓN: Existe escasa literatura sobre los cuidados enfermeros de pacientes con enfermedad de McArdle, lo que ha limitado la comparación de nuestros resultados con los de otros autores, sin embargo, dada la buena respuesta del sujeto mediante reposición de líquidos, un óptimo control del dolor y el reposo demostraron una rápida recuperación del paciente

INTRODUCTION: McArdle's disease or glycogenosis type V is a rare disease due to deficiency of muscle myophosphorylase leading to inability to degrade glycogen at this level. Patients have fatigue, pain, and cramps on a regular basis. In addition, after intense exercise or stressful situation, they are exposed to cellular lysis. This can occur in the form of rhabdomyolysis and myoglobinuria, a potentially serious clinical syndrome if not treated quickly. CASE EVALUATION: We present the care plan of a 38-year-old man with McArdle's disease and secondary rhabdomyolysis on physical exercise, which required attention in the Emergency Department for 24 hours, as well as his subsequent admission to the ward. A nursing evaluation was performed following the care model of Virginia Henderson. DIAGNOSIS: Priority was given to nurse diagnoses: (00016) deterioration of urinary elimination, (00092) activity intolerance, (00093) fatigue and (00132) acute pain; and potential complication: risk of acute renal failure. PLANNING: The Care Plan is developed following the NANDA-NIC-NOC methodology, with special attention to alterations in the elimination and musculoskeletal system. The diuresis is monitored. Fluid replenishment is performed, and analgesic medication is given. DISCUSSION: There is little literature on the nursing care of patients with McArdle's disease, which has limited the comparison of our results with those of other authors. However, given the good response of the subject through fluid replacement, optimal pain control and rest, they made a rapid recovery

Equipe de enfermagem no cuidado à criança com doença de Pompe em terapia intensiva / Nursing team in care for children with Pompe disease in intensive care / Equipo de enfermería en la atención de niños con enfermedad de Pompe en cuidados intensivos

Objetivo: investigar o conhecimento e práticas da equipe de enfermagem em relação ao cuidado à criança com Doença de Pompe em terapia intensiva. Método: trata-se de um estudo descritivo com abordagem qualitativa. A coleta de dados foi realizada com entrevista semiestruturada com enfermeiras e técnicas em enfermagem que atuavam na Unidade de Terapia Intensiva Neonatal de um hospital do Rio Grande do Sul, após aprovação pelo Comitê de Ética em Pesquisa. Os dados foram analisados pela análise de conteúdo. Resultados: as profissionais enfatizaram experiências que superam procedimentos técnicos, na busca de fornecer um cuidado integral qualificado e seguro, para proporcionar vivências mais próximas de um lar para a criança e familiares. Conclusão: a equipe de enfermagem possui conhecimentos para o cuidado e atua de forma multiprofissional. Conclui-se que estudos relacionados às doenças raras oferecem subsídios para qualificar o cuidado de enfermagem.

Objective: to investigate nursing team knowledge and practices regarding care for children with Pompe disease in intensive care. Method: in this qualitative, descriptive study, data were collected by semi-structured interviews of nurses and nursing technicians working in the neonatal intensive care unit of a hospital in Rio Grande do Sul, after ethics committee approval. Data were subjected to content analysis. Result: the nurses emphasized experiences that go beyond technical procedures, in the endeavor to provide safe and qualified comprehensive care in order to provide experiences closer to a home for the children and their families. Conclusion: the nursing team was knowledgeable about care and worked in multidisciplinary manner. It was concluded that studies relating to rare disease offer input to inform nursing care.

Objetivo: investigar el conocimiento y las prácticas del equipo de enfermería sobre el cuidado de niños con enfermedad de Pompe en cuidados intensivos. Método: en este estudio cualitativo descriptivo, los datos fueron recolectados mediante entrevistas semiestructuradas a enfermeras y técnicos de enfermería que laboran en la unidad de cuidados intensivos neonatales de un hospital de Rio Grande do Sul, previa aprobación del comité de ética. Los datos se sometieron a análisis de contenido. Resultado: las enfermeras destacaron experiencias que van más allá de los procedimientos técnicos, en el afán de brindar una atención integral segura y calificada con el fin de brindar experiencias más cercanas a un hogar para los niños y sus familias. Conclusión: el equipo de enfermería tenía conocimiento del cuidado y trabajaba de manera multidisciplinar. Se concluyó que los estudios relacionados con las enfermedades raras ofrecen información para informar la atención de enfermería.

Impact of COVID-19 pandemic on patients with rare disease in Hong Kong.

The COVID-19 pandemic has had significant health, social, and economic consequences internationally. While the pandemic has direct implications on infected patients and families, there is a need to examine the pandemic's effect on patients with non-COVID-19-related diseases. This study examines the impact of the COVID-19 pandemic on 272 rare disease patients with 89 distinct rare diseases in Hong Kong using a cross-sectional online survey between April 10 and April 29, 2020 from the patient and caregiver perspective. The pandemic has impacted patient's health status in 46%, service use patterns in 71%, mental health in 79%, daily living in 82%, social life in 92%, and financial status in 81% of patients. Patient's health status, medical and rehabilitation, and mental health were more impacted by the COVID-19 pandemic in the group of patients with any level of dependency according to the Barthel Index for Activities of Daily Living compared with that in the group of patients who are fully independent (p < 0.0001; p < 0.0001; p = 0.0420). This study is the first study to examine the impact of COVID-19 pandemic on the rare disease population in Hong Kong, and demonstrates the pandemic's effect on service and resource utilization, and patient's physical and mental well-being.

Assessing a Student With a Rare Disease.

An assessment tool, "Assessing a Student with a Rare Disease," was developed by the Specialized Health Needs Interagency Collaboration program and introduced at NASN's 51st annual conference in Denver, Colorado. The goal of the tool is to support the school nurse as the medical expert in the educational setting by using a comprehensive prompt to gather information about the student's health condition and the possible impact on student's medical, cognitive, and behavioral needs at school.

Parent Experiences and Preferences When Dysmelia Is Identified During the Prenatal and Perinatal Periods: A Qualitative Study Into Family Nursing Care for Rare Diseases.

Several rare diseases are regularly identified during the prenatal and perinatal periods, including dysmelia. How these are communicated to parents has a marked emotional impact, but minimal research has investigated this. The purpose of this study was to explore parent experiences and preferences when their baby was diagnosed with dysmelia. Mothers and fathers were interviewed. Data were analyzed using thematic analysis. The overriding emotion parents experienced was shock, but the extent of this was influenced by several factors including their previous experience of disability. Four key needs of parents were identified, including the need for signposting to peer support organizations, for information, for sensitive communication, and for a plan regarding their child's care. Parents wanted immediate information provision and signposting to peer support, and for discussions regarding possible causes of the dysmelia or termination (in the case of prenatal identification) to be delayed until they had processed the news.

Educación sanitaria pra enfermería sobre la epidermólisis bullosa / Education on health nursing epidermolysis bullosa

Introducción. La epidermólisis bullosa es una enfermedad de baja prevalencia caracterizada por la formación de ampollas tanto en el exterior del cuerpo como en el interior. El desconocimiento de esta enfermedad rara por parte del personal sanitario supone un problema para los afectados y sus familiares a la hora de aplicar los cuidados necesarios. Existen recursos escasos para su tratamiento. Objetivo. Dar a conocer a los profesionales las características, el tratamiento y los cuidados de la epidermólisis bullosa. Material y método. Estudio con metodología cualitativa y orientación teórica fundamentada. Resultados. Recolección de las actuaciones más relevantes de enfermería sobre los cuidados y la atención sanitaria integral del paciente y su familia. Conclusión. Dar a conocer las medidas paliativas para la epidermólisis bullosa (AU)

Introduction. The epidermolysis bullosa is a disease of low prevalence characterized by the formation of blister both in the exterior and in the interior of the body. The ignorance of this rare disease on the part of the sanitary personnel implies a problem for the affected ones and his relatives, at the moment of applying the necessary cares. There ara scanty resources for its treatment. Objective. To publish to the sanitary personnel the characteristics, the treatment and the cares of this disease. Material and method. Study with qualitative methodology and theoretical based orientation. Results. Gathering of the most relevant actions of infirmary on cares and sanitary integral attention to the patient and his family. Conclusion. Make the palliative measures on the epidermolysis bullosa public (AU)

Nursing Management of Advanced Merkel Cell Carcinoma.

Merkel cell carcinoma (MCC) is a rare and lethal skin cancer with few known treatment options. Management of this disease is challenging, and oncology nurses must understand the medical, physical, and psychosocial burden that MCC places on the patient and family caregivers. Patients must navigate a complex medical and insurance network that often fails to support patients with rare cancers. Nurses must advocate for these patients to ensure quality comprehensive cancer care.

Cuidando da criança hospitalizada com doença de wilson: relato de experiência / Cuidando al niño hospitalizado con enfermedad de wilson: relato de experiencia / Taking care of hospitalized child with wilson's disease: experience report

RESUMO O processo de hospitalização pode trazer à criança sofrimento psicológico e físico, principalmente quando acometida por uma doença crônica e rara. Este trabalho tem como objetivo relatar a experiência acadêmica, enfatizando a importância da implementação do processo de enfermagem na assistência a uma criança com Doença de Wilson. Trata-se de um estudo descritivo, tipo relato de experiência, desenvolvido na Clínica Pediátrica de um Hospital Escola do município de João Pessoa-PB. Os resultados demonstram que foi possível aos acadêmicos a elaboração de maneira estratégica das ações de enfermagem por meio da apropriação de informações sobre o caso e aproximação ao binômio; da efetivação de ações para o cuidado de enfermagem e da realização de ponderações sobre a assistência. Essa experiência permitiu reflexões a respeito do processo de cuidar, principalmente em casos de doenças raras, no intuito de despertar no discente a capacidade de "aprender a aprender" a partir da práxis.

RESUMEN El proceso de hospitalización puede llevar al niño sufrimiento psicológico y físico, sobre todo cuando acometido por una enfermedad crónica y rara. Este estudio tiene como objetivo informar sobre la experiencia académica, haciendo hincapié en la importancia de la aplicación del proceso de enfermería en el cuidado a un niño con la Enfermedad de Wilson. Se trata de un estudio descriptivo tipo relato de experiencia, desarrollado en la Clínica Pediátrica de un Hospital Escuela, de la ciudad de João Pessoa - PB, Brasil. Los resultados muestran que fue posible para los académicos la elaboración de forma estratégica de las acciones de enfermería a través de la apropiación de informaciones sobre el caso y aproximación al binomio; de la efectuación de acciones la atención de enfermería y la realización de consideraciones sobre la atención. Esta experiencia permitió reflexiones sobre el proceso de cuidar, sobre todo en los casos de enfermedades raras, con el objetivo de despertar en el estudiante la capacidad de aprender a aprender a partir de la praxis.

ABSTRACT The hospitalization process can bring psychological and physical suffering to the child, especially when affected by a chronic and rare disease. This study aims to report the academic experience, emphasizing the importance of implementing the nursing process in assisting a child with Wilson's disease. This is a descriptive study of experience report type, developed at the Pediatric Clinic of a Teaching Hospital in the city of Joao Pessoa - PB. The results show that the academics were able to strategically develop nursing actions through the appropriation of information about the case and approach to the binomial, the conduction of actions for the nursing care and the realization of questioning on the care. This experience has allowed reflections on the care process, especially in cases of rare diseases in order to awakening in students the ability to "learn to learn" from practice.

Staff perspectives on two rare mental health disorders.

Pervasive refusal syndrome (PRS)/pervasive arousal withdrawal syndrome (PAWS) and conversion disorder (CD) are two rare mental health disorders that commonly affect children and young people. In the most extreme cases of PRS/PAWS, young people may be unable to perform activities of daily living and rely on adults for physical and emotional support. CD can present as loss of sensation in vision and touch, pain in certain areas and an inability to walk. It is important that children's nurses are aware of these disorders and have some insight into the most helpful approaches. Young people need to feel that their experiences are validated, which can elicit feelings in staff from an urge to help to intense frustration. It is essential for staff to be able to talk and reflect to allow such feelings to be understood. Although these are rare conditions, this article outlines what to do if young people present with features of PRS/PAWS or CD in a general healthcare setting.

The Supportive Care Needs of Parents With a Child With a Rare Disease: A Qualitative Descriptive Study.

There are few studies that exist which focus specifically on parents with a child with a rare disease. The purpose of this study was to better understand the lived experiences and supportive care needs (SCN) of parents caring for a child across a spectrum of rare diseases. A qualitative descriptive approach was used to guide the research, and four semi-structured focus group interviews were conducted with 23 parents (17 mothers and 6 fathers). Participants described 'feeling boxed-in outside the box' due to a number of limitations unique to their child's disease, daily practical challenges in providing care and the various relational impacts of caring for a child with a rare disease were discussed. The results from this study help to give clearer direction for health professionals on where to focus future efforts in better meeting the supportive care needs of parents and their child with a rare disease.