RESUMO
BACKGROUND & AIMS: Due to the lack of validated methods of muscle assessment, sarcopenia is not well described in critically ill children. The main objectives of this study were to assess muscle wasting using point-of-care ultrasound (POCUS) and anthropometry, as well as its association with nutrition delivery in PICU. METHODS: This was a single-center, prospective cohort study, including consecutive children admitted to the PICU. Quadriceps femoris muscle thickness (QFMT) and anthropometrics measurements were performed at admission and then weekly until the 14th day of the PICU stay. The three moments of assessment were defined as T0 (baseline), T1 (7th day) and T2 (14th day). For analysis purposes, participants assessed only in T0 and T1 were defined as Subgroup 1, while those assessed in T0, T1 and T2 were defined as Subgroup 2. Actual total daily intake was determined by patient intake records until discharge or during the first 14 full days of PICU admission. RESULTS: In all, 119 patients were included with a median age of 12.0 months (IQR 4.0-42.5). In Subgroup 1, QFMT significantly decreased between T0 and T1 (-12.93 ± 14.07 %; p < 0.001), and the same was observed in Subgroup 2 (-13.81 ± 13.05 %; p < 0.001). However, no differences in QFMT was observed between T1 and T2 (-2.06 ± 13.80 %; p = 0.936). Triceps skinfold thickness, mid-upper arm circumference, and upper arm muscle area presented a similar pattern of changes between periods in both groups. Decrease of QFMT at T1 was significantly correlated with the cumulative protein deficit in both subgroups, but not with the cumulative energy deficit. CONCLUSION: Substantial muscle wasting occurs early in critically ill children and may be related to insufficient protein delivery. Anthropometric measurements are valuable in PICU and POCUS has the potential to play a major role in sarcopenia assessment during critical illnesses. TRIAL REGISTRATION: Brazilian Clinical Trials registry, registration number: RBR-85YYGN.
Assuntos
Antropometria/métodos , Testes Imediatos , Sarcopenia/diagnóstico , Ultrassonografia/métodos , Pré-Escolar , Estado Terminal , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Atrofia Muscular/diagnóstico , Atrofia Muscular/etiologia , Estudos Prospectivos , Músculo Quadríceps/diagnóstico por imagem , Sarcopenia/etiologia , Dobras CutâneasRESUMO
BACKGROUND: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia. OBJECTIVE: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients. METHODS: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included. P1 and P2, belonging to group 1, had normal muscle strength; Group 2, P3, P4 and P5, presented with muscular weakness. Muscle strength was measured by manual muscle testing, Medical Research Council (MRC) grades 1/5 to 5/5. Laboratory exams included serum CK levels, nerve conduction studies (NCS)/needle electromyography (EMG), pulmonary function tests, EKG and cardiac ultrasound. ANO5 molecular screening was performed with different approaches. RESULTS: Group 1 patients showed myalgias with hyperCKemia or isolated hyperCKemia. Group 2 patients presented with limb-girdle or proximo-distal muscular weakness. Serum CK levels ranged from 897 to 5000 UI/L. Muscle biopsy analysis in P4 and P5 showed subsarcolemmal mitochondrial aggregates. Electron microscopy confirmed mitochondrial proliferation and revealed discontinuity of the sarcolemmal membrane. Muscle MRI showed asymmetrical fibro-fatty substitution predominant in the lower limbs.P1 and P2 were compound heterozygous for c.191dupA (p.Asn64Lysfs*15) and c.1898â+âG>A; P3 was homozygous for the c.692G>T. (p.Gly231Val); P4 harbored a novel biallelic homozygous exons 1-7 ANO5 gene deletion, and P5 was homozygous for a c.172 Câ>âT (p.(Arg 58 Trp)) ANO5 pathogenic variant. CONCLUSIONS: Our cohort confirms the wide clinical variability and enlarge the genetic spectrum of ANO5-related myopathies.
Assuntos
Anoctaminas/genética , Creatina Quinase/sangue , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Adulto , Estudos de Coortes , Miopatias Distais/diagnóstico , Miopatias Distais/genética , França , Humanos , México , Debilidade Muscular/diagnóstico , Debilidade Muscular/fisiopatologia , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação , Mialgia/diagnóstico , Mialgia/fisiopatologia , LinhagemRESUMO
Primrose syndrome (PRIMS), a rare genetic disorder with several clinical findings including intellectual disability, macrocephaly, typical facial features, and muscle wasting, is caused by heterozygous variants in the ZBTB20 gene. We report the cases of two males diagnosed with PRIMS at different ages, emphasizing the likely progressive nature of the disorder, as well as the differences and similarities of presentation during infancy and adulthood. Patient 1 is a 2-year-old American male with a medical history marked by impaired hearing, developmental delays, and fainting spells. Patient 2 is a 28-year-old Brazilian male, who presents with a phenotype similar to that seen in Patient 1 with additional features of ectopic calcifications and prominent muscular and skeletal abnormalities. Additionally, Patient 2 has a history of fainting spells and diminished body height and weight, with the latter features having only been reported in one PRIMS patient so far. Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS. Overall, these case reports highlight PRIMS's likely progressive nature and contribute to the understanding of the natural history of this condition.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Calcinose/diagnóstico , Calcinose/genética , Otopatias/diagnóstico , Otopatias/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Atrofia Muscular/diagnóstico , Atrofia Muscular/genética , Mutação , Proteínas do Tecido Nervoso/genética , Fenótipo , Fatores de Transcrição/genética , Humanos , Lactente , MasculinoRESUMO
Abstract Introduction: Evaluate the association between the thumb adductor muscle thickness and the patient's nutritional status, and propose cutoff points for muscle mass depletion in elderly patients with chronic kidney disease (CKD) under conservative treatment. Epidemiological and cross-sectional study, including patients with CKD stages 3 to 5, older than 60 years. Socioeconomic, clinical, physical activity and anthropometric data was obtained. TAMT was described and compared according to CKD stage, socioeconomic data, physical activity, nutritional status and correlated with age, glomerular filtration rate and anthropometric variables. Receiver Operating Characteristic (ROC) curves were produced, considering the lean tissue index classification as reference. The cut-off point was defined by the Youden index. Results: We evaluated 137 individuals. The TAMT was lower in malnourished and/or depleted muscle mass individuals; among males it was higher among those who practiced physical activities (p <0.05). This measure was moderately correlated with BMI, calf and brachial circumferences, lean body tissue, lean tissue index and body cell mass (r <0.7); negatively with age (r = -0.34). The ROC curve analysis determined cut points of 15.33 mm for females and 20.33 mm for males, with 72.22% and 62.50% accuracy, respectively. Conclusion: TAMT is used to estimate muscle mass and we suggest the cutoff point is useful to rule out the likelihood of muscle mass depletion. It is recommended that it be used in a complementary way in nutritional assessment.
Resumo Introdução: Avaliar a associação da espessura do músculo adutor do polegar (EMAP) com o estado nutricional e propor pontos de corte para depleção de massa muscular em idosos portadores da doença renal crônica (DRC) em tratamento conservador. Metodologia: Estudo epidemiológico, delineamento transversal, incluindo portadores de DRC estágios 3 a 5, acima de 60 anos. Obteve-se dados socioeconômicos, clínicos, prática de atividade física e antropométricos. A EMAP foi descrita e comparada de acordo com o estágio da DRC, dados socioeconômicos, atividade física e estado nutricional e correlacionada com idade, taxa de filtração glomerular e variáveis antropométricas. Foram produzidas curvas Receiver Operating Characteristic (ROC), considerando como padrão de referência a classificação do índice de tecido magro. O ponto de corte foi definido pelo índice Youden. Resultados: Avaliou-se 137 indivíduos. A EMAP foi inferior nos desnutridos e/ou com depleção de massa muscular; no sexo masculino foi superior nos praticantes de atividade física (p<0,05). A medida se correlacionou moderadamente com IMC, circunferência da panturrilha e braquial, tecido de massa magra, índice de tecido magro e massa celular corporal (r<0,7), e negativamente com a idade (r=-0,34). A análise da curva ROC determinou pontos de corte de 15,33 mm para o sexo feminino e 20,33 mm para o masculino, com acurácia de 72,22% e 62,50%, respectivamente. Conclusão: A EMAP serve para estimar a massa muscular, e o ponto de corte sugerido é útil para afastar a probabilidade de depleção de massa muscular. Recomenda-se que seja utilizada de forma complementar na avaliação nutricional.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Polegar/patologia , Envelhecimento/fisiologia , Avaliação Nutricional , Músculo Esquelético/patologia , Insuficiência Renal Crônica/terapia , Insuficiência Renal Crônica/epidemiologia , Tratamento Conservador , Composição Corporal , Atrofia Muscular/diagnóstico , Exercício Físico , Índice de Massa Corporal , Estado Nutricional/fisiologia , Estudos Transversais , Curva ROC , Fatores Etários , Taxa de Filtração GlomerularRESUMO
INTRODUCTION: Evaluate the association between the thumb adductor muscle thickness and the patient's nutritional status, and propose cutoff points for muscle mass depletion in elderly patients with chronic kidney disease (CKD) under conservative treatment. Epidemiological and cross-sectional study, including patients with CKD stages 3 to 5, older than 60 years. Socioeconomic, clinical, physical activity and anthropometric data was obtained. TAMT was described and compared according to CKD stage, socioeconomic data, physical activity, nutritional status and correlated with age, glomerular filtration rate and anthropometric variables. Receiver Operating Characteristic (ROC) curves were produced, considering the lean tissue index classification as reference. The cut-off point was defined by the Youden index. RESULTS: We evaluated 137 individuals. The TAMT was lower in malnourished and/or depleted muscle mass individuals; among males it was higher among those who practiced physical activities (p <0.05). This measure was moderately correlated with BMI, calf and brachial circumferences, lean body tissue, lean tissue index and body cell mass (r <0.7); negatively with age (r = -0.34). The ROC curve analysis determined cut points of 15.33 mm for females and 20.33 mm for males, with 72.22% and 62.50% accuracy, respectively. CONCLUSION: TAMT is used to estimate muscle mass and we suggest the cutoff point is useful to rule out the likelihood of muscle mass depletion. It is recommended that it be used in a complementary way in nutritional assessment.
Assuntos
Envelhecimento/fisiologia , Tratamento Conservador , Músculo Esquelético/patologia , Avaliação Nutricional , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/terapia , Polegar/patologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Composição Corporal , Índice de Massa Corporal , Estudos Transversais , Exercício Físico , Feminino , Taxa de Filtração Glomerular , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Muscular/diagnóstico , Estado Nutricional/fisiologia , Curva ROCRESUMO
Atrophy and weakness of the respiratory and peripheral muscles is a common problem in the intensive care unit (ICU). It is difficult to diagnose, particularly in the early stages of critical disease. Consequently, many cases are detected only in advanced stages, for example, when difficulties in mechanical ventilation weaning are encountered. The aim of this review is to describe the main tools that are currently available for evaluation of peripheral and respiratory muscles in the ICU. Techniques of varying complexity and specificity are discussed, and particular emphasis is placed on those with greater relevance in daily clinical practice, such as ultrasound.