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2.
Arch. pediatr. Urug ; 92(2): e214, dic. 2021. tab
Article in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1339134

ABSTRACT

Las enfermedades neuromusculares (ENM) afectan los distintos componentes de la unidad motora. Desde el diagnóstico deben ser seguidos por un equipo interdisciplinario, donde el neumólogo pediátrico desempeña un papel importante en la valoración de la pérdida de fuerza muscular cuando afecta a la musculatura respiratoria o de la vía aérea superior. Objetivos: conocer las diferentes enfermedades neuromusculares atendidas en el Centro Hospitalario Pereira Rossell, analizar las características de la población y describir los resultados de los principales estudios solicitados por la policlínica de neumológica pediátrica. Metodología: estudio descriptivo, analítico y retrospectivo de los pacientes con enfermedad neuromuscular atendidos en el Centro Hospitalario Pereira Rossell entre el 1/6/2006 y el 31/12/2019. Resultados: las patologías neuromusculares más frecuentemente encontradas fueron distrofias musculares, miopatías, distrofia miotónica de Steinert y atrofia muscular espinal. No tienen diagnóstico definitivo 21/73 pacientes. La espirometría mostró una alteración restrictiva en la mayoría de los pacientes. Para descartar trastornos respiratorios del sueño se realizó oximetría nocturna con gasometría al despertar. La hipoventilación nocturna y las apneas obstructivas fueron las alteraciones encontradas. En 12/73 se inició ventilación no invasiva. Conclusiones: los pacientes con ENM experimentan un deterioro progresivo de la función respiratoria que contribuye a una elevada tasa de morbimortalidad. La evaluación y seguimiento regular de la función respiratoria junto con estudios de sueño, son fundamentales para el inicio oportuno de ventilación no invasiva.


Neuromuscular diseases (NMD) affect the different components of the motor system. As of diagnosis, they should be followed by an interdisciplinary team, in which pediatric pulmonologists play an important role in assessing the loss of muscle strength when NMD affects the respiratory or upper airway muscles. Objectives: to learn about the different neuromuscular diseases treated at the Pereira Rossell Hospital Center, to analyze the characteristics of this population and to describe the results of the main studies requested by the pediatric pulmonology clinic. Methodology: descriptive, analytical and retrospective study of patients with neuromuscular disease treated at the Pereira Rossell Hospital Center between 6/1/2006 and 12/31/2019. Results: the most frequent neuromuscular pathologies were muscular dystrophies, myopathies, Steinert's myotonic dystrophy and spinal muscular atrophy. 21/73 patients did not have a definitive diagnosis. Spirometry showed a restrictive alteration in most of the patients. To rule out respiratory sleep disorders, nocturnal oximetry with blood gas was performed upon awakening, with nocturnal hypoventilation and obstructive apneas being the alterations found. In 12/73 non-invasive ventilation was applied. Conclusions: patients with NMD experience a progressive deterioration of respiratory function that contributes to a high rate of morbidity and mortality. Regular evaluation and monitoring of respiratory function, along with sleep studies, are essential for the timely initiation of non-invasive ventilation.


As doenças neuromusculares (DNM) afetam os diferentes componentes da unidade motora. Desde o diagnóstico, os pacientes devem ser acompanhados por uma equipe interdisciplinar, onde o pneumologista pediátrico desempenha um papel importante na avaliação da perda de força muscular quando atinge a musculatura respiratória ou das vias aéreas superiores. Objetivos: conhecer as diferentes doenças neuromusculares tratadas no Centro Hospitalar Pereira Rossell, analisar as características desta população e descrever os resultados dos principais estudos solicitados à policlínica de pneumologia pediátrica. Metodologia: estudo descritivo, analítico e retrospectivo de pacientes com doenças neuromusculares atendidos no Centro Hospitalar Pereira Rossell entre 01/06/2006 e 31/12/2019. Resultados: as patologias neuromusculares mais encontradas foram distrofias musculares, miopatias, distrofia miotônica de Steinert e atrofia muscular espinhal. 21/73 pacientes não tiveram um diagnóstico definitivo. A espirometria mostrou alteração restritiva na maioria dos pacientes. Para afastar distúrbios respiratórios do sono, foi realizada oximetria noturna com gasometria ao despertar, sendo a hipoventilação noturna e as apneias obstrutivas as alterações encontradas. Em 12/73 foi iniciada ventilação não invasiva. Conclusões: os pacientes com DNM experimentam uma deterioração progressiva da função respiratória que contribui para uma alta taxa de morbidade e mortalidade. A avaliação regular e o monitoramento da função respiratória, juntamente com os estudos do sono, são essenciais para o início oportuno da ventilação não invasiva.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Neuromuscular Diseases/classification , Neuromuscular Diseases/epidemiology , Respiration Disorders/etiology , Respiration Disorders/therapy , Uruguay/epidemiology , Cross-Sectional Studies , Retrospective Studies , Noninvasive Ventilation , Neuromuscular Diseases/complications , Neuromuscular Diseases/diagnosis
3.
Article in Spanish | LILACS | ID: biblio-1379923

ABSTRACT

OBJETIVO: Describir clínica y diagnóstico de 152 pacientes pediátricos asistentes al policlínico del Programa de Enfermedades Neuromusculares (ENM) en un centro terciario de la Región Metropolitana, Chile. METODOLOGÍA: Revisión de fichas programa EMN (2012-2016). RESULTADOS: 49% niñas, mediana de edad: 9 años (rango, 0­18), consultan por alteraciones de la marcha, debilidad e hipotonía. Segmentos más afectados son músculo y nervio periférico (92%). Diagnósticos más frecuentes son neuropatías adquiridas (26,1%), distrofias musculares (14,8%) y trastornos miotónicos (12,7%). Comorbilidades más frecuentes son patología traumatológica (23,2%) y discapacidad intelectual (13,4%). Los pacientes con patología hereditaria tienen mayor chance de requerir ventilación mecánica (OR 15,4; IC 95% 1,9­119,2) y presentar morbilidad traumatológica (OR 4,1; IC 1,03­16,4) que los con patología adquiridas. Confirmación genético-molecular en 38,4% de los pacientes con patología hereditaria. CONCLUSIONES: El conocimiento de características clínicas y posibilidades de estudio de las ENM puede mejorar las estrategias de atención.


INTRODUCTION: Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. OBJECTIVES: To clinically and epidemiologically characterize the pediatric population attending a polyclinic run using the NMS program of a hospital in the Metropolitan Region in Chile. Methodology: A review was made of database and clinical records of patients diagnosed with NMS between January 2012 and December 2016. RESULTS: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, decreased strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%) and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having a traumatological disease (OR 4.1 [CI 1.03-16.4]) compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through molecular genetic testing. CONCLUSIONS: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Keywords: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/epidemiology , Wounds and Injuries/epidemiology , Comorbidity , Chile , Epidemiology, Descriptive , Cross-Sectional Studies , Hospitals, Public/statistics & numerical data , Intellectual Disability/epidemiology
4.
Rev. bras. neurol ; 56(4): 17-23, out.-dez. 2020. tab, graf
Article in English | LILACS | ID: biblio-1140807

ABSTRACT

Motor neuron disease (MND) is a systemic disease with a broad clinical spectrum. It is characterized by primary involvement of the lower or upper motor neuron (UMN), or both, simultaneously, represented by the most common form, amyotrophic lateral sclerosis (ALS). ALS is rapidly progressive and fatal disease that evolve to death due to respiratory failure, on average, in three to five years since the onset of symptoms. This fact attends to the early and correct diagnosis of the disease. OBJECTIVE: To evaluate clinical, epidemiological and electrophysiological variables for the early diagnosis of ALS. METHODS: This is an observational, descriptive and retrospective study, conducted from the collect of the database, in which the variables were submitted to statistical analysis: Mann-Whitney test and Fisher's exact test. RESULTS: When correlating clinical, epidemiological and electrophysiological findings of patients with ALS and other forms of MND, the variables: age of onset of symptoms (P=0,02) hyperreflexia (P=0,001), presence of bulbar symptoms/signs (P<0,001), pathological reflexes (P=0.001), and presence of fasciculation in electromyography (P=0,001) presented statistical significance for the diagnosis of ALS. CONCLUSION: Despite the small sample size, the findings reinforce the importance of well- done neurological examination, to search for signs of involvement of the UMN, in the first evaluation of patients with suspected MND. And that more research is needed to better understand the different phenotypes of the disease in order to obtain an increasingly early diagnosis to offer improvements in the quality of life of these patients


A doença do neurônio motor (DNM) é uma doença sistêmica com amplo espectro clínico. É caracterizada pelo envolvimento primário do neurônio motor inferior ou superior (NMS), ou ambos, simultaneamente, representados pela forma mais comum de esclerose lateral amiotrófica (ELA). A ELA é uma doença rapidamente progressiva e fatal que evolui para óbito devido à insuficiência respiratória, em média, em três a cinco anos desde o início dos sintomas. Esse fato atenta ao diagnóstico precoce e correto da doença. OBJETIVO: Avaliar variáveis clínicas, epidemiológicas e eletrofisiológicas para o diagnóstico precoce de ELA. MÉTODOS: Estudo observacional, descritivo e retrospectivo, realizado a partir da coleta do banco de dados, no qual as variáveis foram submetidas a análises estatísticas: teste de Mann-Whitney e teste exato de Fisher. RESULTADOS: Ao correlacionar achados clínicos, epidemiológicos e eletrofisiológicos de pacientes com ELA e outras formas de DNM, as variáveis: idade de início dos sintomas (P=0,02) hiperreflexia (P=0,001), presença de sintomas/sinais bulbares (P<0,001), reflexos patológicos (P=0,001) e presença de fasciculação na eletromiografia (P=0,001) apresentaram significância estatística para o diagnóstico de ELA. CONCLUSÃO: Apesar do pequeno tamanho da amostra, os achados reforçam a importância do exame neurológico bem feito, na busca de sinais de envolvimento da NMS, na primeira avaliação de pacientes com suspeita de DMN. E que são necessárias mais pesquisas para melhor entendimento dos diferentes fenótipos da doença, a fim de obter um diagnóstico cada vez mais precoce para oferecer melhorias na qualidade de vida desses pacientes


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Amyotrophic Lateral Sclerosis/diagnosis , Amyotrophic Lateral Sclerosis/epidemiology , Neuromuscular Diseases/diagnosis , Brazil/epidemiology , Prevalence , Follow-Up Studies , Sensitivity and Specificity , Statistics, Nonparametric , Early Diagnosis , Electromyography , Observational Studies as Topic , Neurologic Examination/methods
6.
Article in Spanish | LILACS | ID: biblio-1412191

ABSTRACT

Las Enfermedades Neuromusculares (ENM) representan un grupo heterogéneo de patologías adquiridas y hereditarias que afectan la unidad motora. Existen escasos estudios descriptivos en Chile y Latinoamérica de pacientes con ENM. Objetivo: Caracterizar clínica y epidemiológicamente a población pediátrica asistente a policlínico del Programa de ENM en periodo de 3 años en hospital de Región Metropolitana. Pacientes y Método: Revisión de base de datos y fichas clínicas de pacientes con diagnóstico de ENM entre enero 2012 y diciembre 2016. Resultados: 142 pacientes, 51% sexo masculino, mediana de edad 9 años (0-18). Motivos de consulta frecuentes fueron alteración de la marcha, falta de fuerza e hipotonía. Los segmentos más afectados fueron músculo y nervio periférico (92% de la muestra). Los diagnósticos más frecuentes fueron Neuropatías Adquiridas (26,1%), Distrofias Musculares (14,8%) y Trastornos Miotónicos (12,7%). Las comorbilidades más frecuentes fueron las patologías traumatológicas (23,2%) y discapacidad intelectual (13.4%). Los pacientes con patología hereditaria presentaron mayor riesgo de requerimiento de ventilación mecánica (OR 15,4 [IC 95% 1.9-119.2]) y comorbilidad traumatológica (OR 4,1[IC 1.0316.4]) que los con patología adquiridas. 38,4 % de los pacientes con etiología hereditaria tuvieron confirmación genético-molecular. Conclusiones: Este estudio da información de la frecuencia de las distintas ENM y sus principales comorbilidades en una muestra pediátrica chilena. Aporta datos referentes a las posibilidades de estudio disponible en nuestro país y podría ser de ayuda en la planificación de la atención de estos pacientes. Palabras claves: enfermedad neuromuscular, enfermedad muscular, neuropatías, diagnóstico neurológico.


Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. Objective: To clinically and epidemiologically characterize the pediatric population attending a NMS polyclinic of a hospital in the Metropolitan region. Methodology: A database and clinical record review of patients diagnosed with NMS between January 2012 and December 2016 was performed. Results: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, lack of strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%), and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having traumatological disease (OR 4.1 [CI 1.03-16.4]), compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through a molecular genetic test. Conclusions: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Palabras claves: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/epidemiology , Chile/epidemiology , Epidemiology, Descriptive
7.
Ciênc. Saúde Colet. (Impr.) ; 24(5): 1609-1616, Mai. 2019. tab
Article in English | LILACS | ID: biblio-1001810

ABSTRACT

Abstract This study targets the development of a nursing clinical data model for neuromuscular processes. To achieve this purpose, content analysis based on Bardin's perspective was performed on the Portuguese nursing local customizations regarding neuromuscular processes, with the International Classification for Nursing Practice concepts and the ISO 18104:2014 used as encoding rules. From analysis of the data, a total of 1766 diagnoses were related to neuromuscular processes. After application of exclusion criteria, a corpus with a total of 900 diagnoses was subjected to content analysis. After application of the encoding rules, a total of 81 context units were obtained, and through an inductive approach, were defined into three categories: clinical findings (e.g. aphasia); negative judgment diagnoses (e.g. impaired communication); transition properties (e.g. preparation and knowledge). These interpretations were validated by experts in the field. This study not only demonstrates the need to standardize data, but also the importance of neuromuscular processes in nursing practice. We hope this study will guide the definition of a nursing clinical data model that will help in increasing complexity in the level of care provided with high impact in the patient's quality of life.


Resumo Este estudo tem como objetivo desenvolver um modelo clínico de dados de enfermagem para processos neuromusculares. Uma análise de conteúdo tendo por base a perspetiva de Bardin, foi realizada às parametrizações locais de Enfermagem em Portugal. O processo de codificação teve por base os conceitos da Classificação Internacional para a Prática de Enfermagem e a norma ISSO 18104:2014. Da análise inicial, 1766 diagnósticos encontravam-se relacionados com os processos neuromusculares. Após aplicação dos critérios de exclusão, um corpus de 900 diagnósticos foi sujeito à análise de conteúdo. Após o processo de codificação, 81 unidades de contexto foram obtidas e inseridas, através de processo indutivo, em três categorias: achados clínicos (ex: afasia); diagnósticos com juízo negativo (ex: comunicação comprometida); propriedades de transição (ex: preparação e conhecimento). Estas interpretações foram validadas por peritos na área. Este estudo permitiu evidenciar a importância dos processos neuromusculares, assim como a necessidade de uniformizar os dados. Pretende-se que este estudo oriente a definição de um modelo clínico de dados de Enfermagem que apoiará o aumento da complexidade dos cuidados de Enfermagem prestados, com alto impacto na qualidade de vida da pessoa.


Subject(s)
Humans , Quality of Life , Nursing Diagnosis , Models, Nursing , Neuromuscular Diseases/diagnosis , Portugal , Standardized Nursing Terminology
8.
In. Irizaga, Gonzalo; Rodríguez, Ana María. Perioperatorio del paciente con patología respiratoria y cirugía torácica. Montevideo, BiblioMédica, 2018. p.51-59, tab.
Monography in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1342540
9.
Arq. neuropsiquiatr ; 75(11): 789-795, Nov. 2017. tab, graf
Article in English | LILACS | ID: biblio-888265

ABSTRACT

ABSTRACT The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests. Objective: To report the relative frequency of common neuromuscular diagnoses in a reference center. Methods: A 17-year chart review of patients with suspicion of myopathy. Results: Among 3,412 examinations, 1,603 (46.98%) yielded confirmatory results: 782 (48.78%) underwent molecular studies, and 821 (51.21%) had muscle biopsies. The most frequent diagnoses were: dystrophinopathy 460 (28.70%), mitochondriopathy 330 (20.59%), spinal muscular atrophy 158 (9.86%), limb girdle muscular dystrophy 157 (9.79%), Steinert myotonic dystrophy 138 (8.61%), facioscapulohumeral muscular dystrophy 99 (6.17%), and other diagnoses 261 (16.28%). Conclusion: Using the presently-available diagnostic techniques in this service, a specific limb girdle muscular dystrophy subtype diagnosis was reached in 61% of the patients. A neuromuscular-appropriate diagnosis is important for genetic counseling, rehabilitation orientation, and early treatment of respiratory and cardiac complications.


RESUMO O procedimento diagnóstico neuromuscular é complexo. O conhecimento da frequência relativa das doenças neuromusculares em uma população é importante para utilização dos testes diagnósticos mais apropriados. Objetivo: Relatar a frequência relativa de doenças neuromusculares em um centro de referência. Métodos: Revisão de prontuários de pacientes com suspeita de miopatia em 17 anos. Resultados: Dentre 3412 exames, 1603 (46,98%) foram confirmatórios: 782 (48,78%) estudos moleculares e 821 (51,21%) biópsias musculares. Os diagnósticos mais frequentes foram: distrofinopatia 460 (28,70%), mitocondriopatia 330 (20.59%), atrofia muscular espinhal 158 (9,86%), distrofia muscular cintura-membros 157 (9,79%), distrofia miotônica de Steinert 138 (8,61%), distrofia muscular face-escápulo-umeral 99 (6,17%) e outros diagnósticos 261 (16,28%). Conclusão: Utilizando as técnicas diagnósticas atualmente disponíveis em nosso serviço, o diagnóstico específico do subtipo de distrofia muscular cintura-membros foi obtido em 61% dos pacientes. O diagnóstico neuromuscular apropriado é importante para o aconselhamento genético, orientações de reabilitação e tratamento precoce de complicações respiratórias e cardíacas.


Subject(s)
Humans , Male , Female , Neuromuscular Diseases/diagnosis , Biopsy , Retrospective Studies , Neuromuscular Diseases/genetics , Neuromuscular Diseases/pathology
10.
Rev. chil. enferm. respir ; 31(3): 152-159, set. 2015. ilus, graf, tab
Article in Spanish | LILACS | ID: lil-771613

ABSTRACT

Introduction: A high prevalence of sleep-disordered breathing (SDB) has been reported in neuromuscular disease (NMD) patients. Our aim was to describe the results of sleep studies performed by overnight polygraphy in pediatric ward of a public hospital from Concepción, Chile. Additionally, we purposed to define its utility in the treatment of children with NMD. Methods: Records of NMD patients admitted at G. Grant Benavente Hospital, from 2011 to 2015 were considered. The therapeutic approaches were classified as: non invasive ventilation, surgical treatment and follow up. Results: From 36 patients initially admitted in the study 5 were excluded. Patients median age was 10 years-old (range: 0.3-19), 74% (n = 23) were males. Diagnosis were: Duchenne muscular dystrophy in 12 patients (39%), Myelomeningocele in 6 (19%), Hypotonic syndrome in 5 (16%), Miopathy in 3 (10%), Spinal muscular atrohpy in 3 (10%) and other NMD in 2 patients (6%). Median of polygraphy valid time was 7.3 h (range:4.3-10.5). Median of mean values of O2 saturation was 97% (range: 91-99%) and median of minimum O2 saturation was 90% (51-95%). Six polygraphies (19%) were normal and 25 (81%) showed some degree of SDB. From this group 60% had a mild, 28% (n = 7) had a moderate and 12% (n = 3) presented a severe SDB. Fifteen patients (65%) were under non invasive ventilation, nine (29%) of them received medical treatment and two of them (6%) surgical treatment. There was no difference between the magnitude of SDB and therapeutic approach. Moreover, no association between the severity of SDB and therapeutic approach was found. Conclusion: Polygraphy allows objective diagnosis of SDB in children with NMD and is a suitable tool to define therapeutic conducts.


Introducción: Los pacientes con enfermedades neuromusculares (ENM) presentan una alta prevalencia de trastornos respiratorios del sueño (TRS). El objetivo de este estudio fue describir los resultados de estudios poligráficos y mostrar su utilidad para el establecimiento de conductas terapéuticas en niños con ENM de un hospital público de Chile. Metodología: Se consideraron registros de PG de niños con ENM. Las conductas terapéuticas fueron clasificadas como: asistencia ventilatoria no invasiva (AVNI), cirugía y observación y seguimiento. Los resultados se expresan en mediana y rango. Los tests de Kruskal-Wallis y χ2 fueron empleados. Fue considerado significativo unp < 0,05. Resultados: Al estudio ingresan 36 pacientes, siendo excluidos 5, la mediana de edad fue 10 años (0,3-19), 74% varones. Diagnósticos: Distrofia neuromuscular de Duchenne 39% (n = 12), Mielomeningocele 19% (n = 6), Síndrome hipotónico 16% (n=5), Miopatia 10% (n = 3), Atrofia espinal 10% (n = 3), otros 6% (n = 2). El tiempo validado de la poligrafía fue 7,3 h (4,3-10,5), la mediana de la saturación de O2 promedio fue 97% (91-99) y de la saturación de O2 mínima 90% (51-95). Las poligrafías fueron normales en 6 pacientes (19%) y sugerentes de TRS en 25 (81%). Entre ellas se consideró SAHOS leve 60% (n = 15), moderado 28% (n = 7) y severo 12% (n = 3). En 20 pacientes (65%) se decidió iniciar AVNI, en 9 (29%) observación y seguimiento y en 2 (6%) tratamiento quirúrgico. No existió asociación entre la categorización de gravedad de SAHOS y conducta terapéutica. Conclusión: La poligrafía permite el diagnóstico objetivo de TRS en niños con ENM y constituye una herramienta útil para determinación de conductas terapéuticas.


Subject(s)
Humans , Animals , Male , Child , Polysomnography/methods , Sleep Apnea, Obstructive/physiopathology , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Severity of Illness Index , Software Design , Oximetry , Clinical Record , Data Interpretation, Statistical , Retrospective Studies , Statistical Data
11.
J. bras. pneumol ; 41(2): 110-123, Mar-Apr/2015. tab, graf
Article in English | LILACS | ID: lil-745924

ABSTRACT

Impairment of (inspiratory and expiratory) respiratory muscles is a common clinical finding, not only in patients with neuromuscular disease but also in patients with primary disease of the lung parenchyma or airways. Although such impairment is common, its recognition is usually delayed because its signs and symptoms are nonspecific and late. This delayed recognition, or even the lack thereof, occurs because the diagnostic tests used in the assessment of respiratory muscle strength are not widely known and available. There are various methods of assessing respiratory muscle strength during the inspiratory and expiratory phases. These methods are divided into two categories: volitional tests (which require patient understanding and cooperation); and non-volitional tests. Volitional tests, such as those that measure maximal inspiratory and expiratory pressures, are the most commonly used because they are readily available. Non-volitional tests depend on magnetic stimulation of the phrenic nerve accompanied by the measurement of inspiratory mouth pressure, inspiratory esophageal pressure, or inspiratory transdiaphragmatic pressure. Another method that has come to be widely used is ultrasound imaging of the diaphragm. We believe that pulmonologists involved in the care of patients with respiratory diseases should be familiar with the tests used in order to assess respiratory muscle function.Therefore, the aim of the present article is to describe the advantages, disadvantages, procedures, and clinical applicability of the main tests used in the assessment of respiratory muscle strength.


O acometimento da musculatura ventilatória (inspiratória e expiratória) é um achado clínico frequente, não somente nos pacientes com doenças neuromusculares, mas também nos pacientes com doenças primárias do parênquima pulmonar ou das vias aéreas. Embora esse acometimento seja frequente, seu reconhecimento costuma ser demorado porque seus sinais e sintomas são inespecíficos e tardios. Esse reconhecimento tardio, ou mesmo a falta de reconhecimento, é acentuado porque os exames diagnósticos usados para a avaliação da musculatura respiratória não são plenamente conhecidos e disponíveis. Usando diferentes métodos, a avaliação da força muscular ventilatória é feita para a fase inspiratória e expiratória. Os métodos usados dividem-se em volitivos (que exigem compreensão e colaboração do paciente) e não volitivos. Os volitivos, como a medida da pressão inspiratória e expiratória máximas, são os mais empregados por serem facilmente disponíveis. Os não volitivos dependem da estimulação magnética do nervo frênico associada a medida da pressão inspiratória na boca, no esôfago ou transdiafragmática. Finalmente, outro método que vem se tornando frequente é a ultrassonografia diafragmática. Acreditamos que o pneumologista envolvido nos cuidados a pacientes com doenças respiratórias deve conhecer os exames usados na avaliação da musculatura ventilatória. Por isso, o objetivo do presente artigo é descrever as vantagens, desvantagens, procedimentos de mensuração e aplicabilidade clínica dos principais exames utilizados para avaliação da força muscular ventilatória.


Subject(s)
Humans , Muscle Strength/physiology , Neuromuscular Diseases/diagnosis , Respiratory Function Tests/methods , Respiratory Muscles/physiopathology , Exhalation/physiology , Inspiratory Capacity , Inhalation/physiology , Mouth , Pressure
13.
Rev. Méd. Clín. Condes ; 26(1): 66-73, ene-feb. 2015. ilus, tab
Article in Spanish | LILACS | ID: biblio-1150740

ABSTRACT

La Enfermedades Neuromusculares (ENM) son un conjunto de enfermedades con síntomas clínicos que varían según la edad de presentación y el tipo de afectación primaria (mús- culo, unión neuromuscular, nervios o motoneurona inferior). Los pacientes en la segunda década de la vida, edad en la que se desarrolla la adolescencia, presentan síntomas diferentes de la hipotonía o retraso en los hitos motores, propios de las ENM en edades mas tempranas. En este período es necesario mantener un alto nivel de sospecha clínica porque los signos y síntomas de las ENM pueden ser sutiles, de lenta evolución y no ser referidos directamente por el paciente afectado. Esta situación favorece el subdiagnóstico y diagnóstico tardío de estas afecciones. Conocer estos síntomas y signos favorece la sospecha y diagnóstico precoz así como un manejo y cuidados apropiados según cada patología. En esta revisión se hace énfasis en el amplio espectro de la sintomatología que debe ser considerada cuando se sospecha la existencia de una ENM.


Neuromuscular disorders (NMD) include a multiplicity of different diseases with variable clinical symptoms according to age of presentation and type of primary involvement (muscle, neuromuscular junction, nerve or spinal motor neuron). Patients in their second decade of life, when adolescence arises, have distinctive symptoms different from hypotonia or motor milestone developmental delay, which are commonly seen in the early childhood. To be attentive to this clinical diversity is important in order to suspect a NMD, since occasionally the signs or symptoms can be subtle and potentially overlooked by the clinician until later in life. In this review we emphasize the broad spectrum of symptomatology that should be considered when suspecting a NMD during adolescence, to enhance the recognition of these pathologies and be aware of them for a better and earlier workup.


Subject(s)
Humans , Adolescent , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Signs and Symptoms , Muscle Weakness , Neuromuscular Diseases/etiology , Neuromuscular Diseases/genetics
14.
Neumol. pediátr ; 5(2): 74-89, 2010. tab, ilus
Article in Spanish | LILACS | ID: lil-588440

ABSTRACT

El compromiso del sistema respiratorio repercute directamente en la morbimortalidad de niños y adolescentes con enfermedades neuromusculares (ENM). Un enfoque integral que incluya la aproximación a un diagnostico neurológico específico, evaluación funcional respiratoria, de los trastornos respiratorios de sueño, comorbilidades y afecciones secundarias, permiten orientar a el tipo, grado y pronóstico respiratorio; además de otorgar herramientas objetivas para modificar la historia natural de la enfermedad. Utilizar criterios estrictos de selección, una mirada interdisciplinaria y actividades complementarias de rehabilitación; que incorporen en forma programática la ventilación no invasiva domiciliaria, protocolos de tos asistida y métodos para aumentar la capacidad máxima de insuflación, cambia la evolución, disminuye la morbimortalidad y evita la traqueostomía, en una alta proporción de niños y adolescentes portadores de ENM.


Subject(s)
Humans , Child , Adolescent , Child Care/methods , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Algorithms , Breath Tests , Breathing Exercises , Neuromuscular Diseases/physiopathology , Scoliosis/etiology , Nutritional Support , Oxygen Inhalation Therapy , Polysomnography , Respiration, Artificial , Sleep Apnea Syndromes/etiology
15.
Neumol. pediátr ; 5(2): 89-95, 2010. ilus, graf, tab
Article in Spanish | LILACS | ID: lil-588441

ABSTRACT

Este artículo tiene como propósito revisar aspectos fisiológicos, técnicos y clínicos de la oscilometría de impulso aplicada en pediatría; ya que en la actualidad tiene un rol importante en el estudio de la mecánica respiratoria. Es una interesante aproximación al diagnóstico funcional del sistema respiratorio por su fácil realización; en cuanto no necesita de la cooperación activa del paciente, se obtienen resultados comprensibles del sitio y magnitud de la alteración, puede complementar las pruebas de provocación, pesquizar precozmente la respuesta broncodilatadora y participar en el seguimiento de enfermedades crónicas.


Subject(s)
Humans , Child , Airway Resistance , Respiratory Mechanics/physiology , Oscillometry/methods , Respiratory Function Tests/methods , Lung/physiology , Bronchial Provocation Tests , Dilatation , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/physiopathology , Lung Diseases, Obstructive/diagnosis , Lung Diseases, Obstructive/physiopathology , Bronchial Hyperreactivity/physiopathology , Quality Control , Reference Values , Reproducibility of Results
16.
Fisioter. Bras ; 10(5): 308-313, set.-out. 2009.
Article in Portuguese | LILACS | ID: lil-546516

ABSTRACT

Entende-se por doenças neuromusculares aquelas afecções decorrentes do acometimento primário da unidade motora, sendo que, nas crianças, a maior parte dessas afecções é geneticamente determinada. As doenças neuromusculares levam ao comprometimento progressivo da função pulmonar e motora, levando a alterações significativas destas e acentuando o surgimento da fadiga muscular central. A qualidade de vida é considerada como um importante indicador de prognóstico e de evolução das doenças neuromusculares, a qual é utilizada como forma de avaliar o risco de adoecer, além de indicador válido e importante dos benefícios globais do tratamento do paciente. O estudo teve o propósito de avaliar a fadiga central e seu impacto na qualidade de vida dos pacientes com doenças neuromusculares. Foi realizada uma avaliação contendo itens como idade, tempo de diagnóstico, funcionalidade, espirometria, pressão inspiratória e expiratória máximas, escala de severidade de fadiga, desempenho muscular e questionário de qualidade de vida. Na avaliação da qualidade de vida, notou-se que os pacientes avaliados não apresentavam sintomas de fadiga, mas, sintomas de depressão associados com relatos de insatisfação nos itens sobre relações sociais e meio ambiente. Sugere-se que os profissionais da área da saúde estejam aptos a reconhecer e saber diferenciar os sintomas de fadiga central dos sintomas de depressão, para que possam encaminhar os pacientes, no caso de depressão, também para o serviço psicológico e melhorar a qualidade de vida destes pacientes.


Neuromuscular disorders are understood as diseases affecting the motor unit, and in young children most of these diseases are genetic conditions. Neuromuscular disorder leads to pulmonary and motor function involvement causing central muscular fatigue. The quality of life is considered an important indicator of prognostic and evolution of neuromuscular disorder, and it is used to evaluate the possibility to get ill, and also as an important indicator of patient’s treatment benefits. The study aimed at evaluating central fatigue and its impact in quality of life patients with neuromuscular disorders. It was carried out an evaluation with the following items: age, time of diagnosis, functioning, espirometry, maximal inspiratory and expiratory flow, fatigue severity scale, muscular performance and a questionnaire about quality of life. It was observed that patients did not present symptoms of fatigue but, instead, symptoms of depression as reported in social relationship and environment on quality of life evaluation. We suggest that health professionals should be apt to recognize symptoms of central fatigue in order to differentiating from depression symptoms so that they will be able to conduct patients to the right treatment and improve patients’ quality of life.


Subject(s)
Neuromuscular Diseases/complications , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/pathology , Motor Activity , Motor Disorders , Neuromuscular Manifestations , Quality of Life
17.
Rev. cuba. pediatr ; 81(1)ene.-mar. 2009. ilus
Article in Spanish | LILACS | ID: lil-576554

ABSTRACT

El aumento prolongado de la transaminasa glutámico-pirúvica, sin causa demostrada de afectación hepática, o la elevación de los niveles de la creatina-cinasa en niños con pocos síntomas de trastorno neuromuscular o sin ellos, es motivo poco frecuente de consulta en neuropediatría. Se presenta un resumen de lo reportado al respecto en la literatura médica, y se incluyen comentarios al respecto y la propuesta de un algoritmo para el diagnóstico.


A lengthy increase of glutamic-pyruvic transaminase, without a proved cause, or rise of creatinine phosphokinase levels in children with a few symptoms of neuromuscular disorder or without them, is an infrequent reason of consultation in Neuropediatrics service. Authors present a summary of features reported in this respect in medical literature, and are included comments, as well as proposal of a algorithm for diagnosis.


Subject(s)
Humans , Alanine Transaminase/analysis , Creatine Kinase/analysis , Neuromuscular Diseases/diagnosis
19.
Rev. Méd. Clín. Condes ; 19(5): 536-545, nov. 2008. tab, ilus
Article in Spanish | LILACS | ID: lil-511245

ABSTRACT

Las enfermedades neuromusculares (ENM) hereditarias son un conjunto de diversas patologías que debido a la identificación de nuevas proteínas y genes implicados en su etiopatogenia, constituyen entidades clínicas en constante evolución y expansión. Estos avances han permitido comprender mejor los mecanismos patológicos y han impulsado el desarrollo de nuevas técnicas diagnósticas y numerosas investigaciones centradas en tratamientos más específicos. Los clásicos límites entre unas y otras afecciones se han transformado en fronteras menos nítidas, al conocer que diversas manifestaciones fenotípicas pueden corresponder a la alteración de un mismo gen y a la inversa que un mismo síndrome puede ser originado por la alteración de diferentes genes. Este artículo describe las principales proteínas y genes relacionados con las ENM, su clasificación y los avances en el diagnóstico y tratamiento de algunas de las más representativas: la distrofia muscular de Duchenne, la atrofia muscular espinal y las laminopatías.


Extraordinary breakthroughs in the molecular pathogenesis of inherited neuromuscular diseases have resulted evolving genetic classification of neuromuscular disorders and the development of new diagnostic tools. This remarkable progress has introduced new genetic tests and has raised the real possibility of new and more specific therapeutics strategies for these conditions. This review focus on the different groups of proteins currently recognized as being involved in myopathies and muscular dystrophies and discuss some clinical and therapeutical aspect of the Duchenne muscular dystrophy, spinal muscular dystrophy and laminopathies as representatives models.


Subject(s)
Humans , Child , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/therapy , Neuromuscular Diseases/genetics
20.
Rev. bras. neurol ; 44(3): 13-17, jul.-set. 2008. ilus, tab
Article in English | LILACS | ID: lil-498253

ABSTRACT

Benign monomelic amyotrophy (BMA) is a rare form of motor neuron disease of unknown cause and it?s characterized by weakness and muscular atrophy restricted to an upper or lower limb, usually in the distal part, absence of upper motor neuron signs and self limited course. In this report we describe the clinical and electromyographic features of two young men with BMA in the proximal portion of the right upper limb, a location of BMA rarely described in the literature.


Amiotrofia Monomélica Benigna (AMB) é uma entidade rara do neurônio motor, de causa desconhecida, caracterizada por fraqueza muscular e amiotrofia restritas a 1 membro superior ou inferior, frequentemente em terço distal, sem comprometimento da via piramidal e cursoautolimitado. Descrevemos os achados clínicos e eletroneuromiográficos de 2 pacientes jovens com AMB na porção proximal do membro superior, localização raramente descrita na literatura.


Subject(s)
Humans , Male , Adult , Muscular Atrophy/diagnosis , Diagnosis, Differential , Neuromuscular Diseases/diagnosis , Upper Extremity
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