RESUMEN

Patients with Ehlers-Danlos syndrome (EDS) frequently report symptoms such as chronic pain and muscular fatigue that can heavily impact their quality of life. The treatment for many of the physical symptoms of EDS is focused on supportive care, which may include physical therapy and exercise programs. However, many patients will experience difficulty in deriving benefits from these activities due to significant pain and fatigue from physical activity. We report a case of a 39-year-old female with a history of EDS whose physical capabilities were severely impacted by their chronic pain and fatigue symptoms. After little progress was made with their current treatment plan of analgesics, manual therapy, exercise, and physical therapy, the patient was supplemented with creatine monohydrate due to its studied benefits in muscular strength and endurance for athletes. Following supplementation, the patient reported significant benefits in their muscular fatigue symptoms, allowing them to engage in daily activities and exercises more effectively. This case demonstrates a potential addition to the treatment of EDS that can improve a patient's quality of life.

RESUMEN

BACKGROUND: Kawasaki disease (KD) is an acute systemic immune vasculitis affecting multiple organs and systems in children, and is prevalent in children under 5 years of age. Muscular weakness is a rare manifestation of KD, and only 11 pediatric patients with KD combined with muscular weakness have been reported, of which evidence of myositis was found in 2/3 of the patients, and 1/3 could not be explained by myositis, the mechanism of which is still unclear. Cases of KD combined with bladder retention are even more rare, and there has been only 1 case report of KD combined with bladder retention in a child with no previous underlying disease. CASE PRESENTATION: We report a 22-month-old Asian child with incomplete Kawasaki disease (IKD) who initially presented with fever and progressive muscular weakness in the lower extremities, followed by the bladder and bowel retention abnormalities and rapid onset of heart failure, respiratory failure and shock. The child developed coronary artery ectasia (CAA) without the main clinical features of KD such as rash, conjunctival congestion, desquamation of the extremity endings, orofacial changes and enlarged lymph nodes in the neck. Creatine kinase and electromyography were normal. Temperature gradually normalized and muscle strength recovered slightly after intravenous immunoglobulin. The child could be helped to walk after 1 week of aspirin combined with steroid therapy. CONCLUSIONS: We present the case of a 22-month-old child with IKD. The child began with progressive muscular weakness in the extremities, followed by the bladder and bowel retention abnormalities, and rapidly developed heart failure, respiratory failure, and shock. Despite early failure to detect the disease, the child recovered rapidly and had a favorable prognosis. KD comorbidities with muscular weakness as the main manifestation are uncommon. This is the first case report of IKD combined with both muscular weakness and bladder and bowel retention, which may provide clinicians with diagnostic and therapeutic ideas, as well as a basis for future exploration of the mechanisms of KD combined with muscular weakness or bladder and bowel retention abnormalities.

Asunto(s)

RESUMEN

This comprehensive review explores the broad landscape of brain-computer interface (BCI) technology and its potential use in intensive care units (ICUs), particularly for patients with motor impairments such as quadriplegia or severe brain injury. By employing brain signals from various sensing techniques, BCIs offer enhanced communication and motor rehabilitation strategies for patients. This review underscores the concept and efficacy of noninvasive, electroencephalogram-based BCIs in facilitating both communicative interactions and motor function recovery. Additionally, it highlights the current research gap in intuitive "stop" mechanisms within motor rehabilitation protocols, emphasizing the need for advancements that prioritize patient safety and individualized responsiveness. Furthermore, it advocates for more focused research that considers the unique requirements of ICU environments to address the challenges arising from patient variability, fatigue, and limited applicability of current BCI systems outside of experimental settings.

RESUMEN

Key Clinical Message: An underlying autoimmune condition should be suspected in patients who presented with periodic muscular weakness secondary to distal RTA that leads to hypokalemia because distal RTA is commonly associated with autoimmune disorders such as Sjögren's syndrome. Abstract: A 22-year-old female presented with a sudden onset of bilateral weakness in both upper and lower limbs. The patient had a history of muscular weakness secondary to hypokalemia and dryness of the eyes for the last 3 years. Laboratory investigations revealed decreased potassium and metabolic acidosis. Further investigations confirmed distal renal tubular acidosis (RTA) and Sjögren's syndrome. A diagnosis of distal RTA secondary to Sjögren's syndrome was made. Her potassium levels were replaced, and she was discharged with oral potassium supplements, steroids, and artificial tears.

RESUMEN

INTRODUCTION: Inclusion body myositis (IBM), an inflammatory myopathy with progressive weakness without efficient treatment, typically presents after 45 years of age and younger patients are sparsely studied. METHODS: In a population-based study during a 33-year period, 142 patients with IBM were identified in western Sweden. Six patients fell outside the European Neuromuscular Centre 2011 criteria for IBM due to young age at symptom onset, verified by a muscle biopsy < 50 years of age. These were defined as early-onset IBM and included in this study. Medical records, muscle strength, comorbidities, muscle biopsies, and nuclear- and mitochondrial DNA were examined and compared with patients with IBM and age matched controls from the same population. RESULTS: The median age at symptom onset was 36 (range 34-45) years and at diagnosis 43 (range 38-58) years. Four patients were deceased at a median age of 59 (range 50-75) years. The median survival from diagnosis was 14 (range 10-18) years. The prevalence December 31 2017 was 1.2 per million inhabitants and the mean incidence 0.12 patients per million inhabitants and year. The mean decline in quadriceps strength ± 1 standard deviation was 1.21 ± 0.2 Newton or 0.91 ± 0.2% per month and correlated to time from diagnosis (p < 0.001). Five patients had swallowing difficulties. All patients displayed mitochondrial changes in muscle including cytochrome c oxidase deficiency and the mitochondrial DNA mutation load was high. CONCLUSIONS: Early-onset IBM is a severe disease, causing progressive muscle weakness, high muscle mitochondrial DNA mutation load and a reduced cumulative survival in young and middle-aged individuals.

Asunto(s)

RESUMEN

INTRODUCTION: Hypophosphatasia (HPP) is a rare inherited disorder, caused by mutations in the alkaline phosphatase (ALPL) gene, which encodes for the tissue non-specific alkaline phosphatase (TNSALP) isoform of alkaline phosphatase (ALP). Adult HPP is one of the mild forms that presents with unspecific signs such as osteopenia, osteomalacia and muscle involvement. Our purpose was to identify and characterize possibly misdiagnosed adult HPP patients at a clinical and biochemical level. MATERIAL AND METHODS: At the laboratory of Miguel Servet University Hospital we retrospectively reviewed serum ALP levels in adults over a 48-month period. The clinical records of individuals with consistently low ALP levels were reviewed to exclude secondary causes. Those with persistent hypophosphatasemia were screened for symptoms of HPP. The study participants were evaluated at biochemical and genetic levels. RESULTS: We identified 705 ALP determinations (out of 384,000 processed) in 589 patients below the reference range (30 U/l). Only 21 patients with clinical signs and symptoms of HPP were selected for genetic testing. Finally, only 12 patients participated in the study, 83.3% of whom (10/12) harbored a pathogenic or likely pathogenic variant in a heterozygous state. The major symptoms of our cohort were the presence of musculoskeletal pain (100% of patients) and muscular weakness (83.3% patients). CONCLUSION: Mild HPP patients presenting with diffuse symptoms such as musculoskeletal pain may be undiagnosed or misdiagnosed as osteoporosis patients by routine diagnosis. It is important to identify these individuals, to avoid inappropriate treatment with antiresorptive drugs.

Asunto(s)

RESUMEN

We present a case with acute respiratory distress syndrome due to COVID-19 who had poliomyelitis sequelae. He was hospitalized in the intensive care unit and supported by non-invasive mechanical ventilation for 7 days. IL-6 inhibitor was administered due to cytokine storm. No steroid or sedative agents were administered. Early mobilization was performed in the intensive care unit. One month after discharge, physical examination revealed COVID-19 infection did not cause significant changes in muscle strength and physical performance in this patient with poliomyelitis sequelae. It is important to promote early mobilization in the intensive care unit to prevent post-intensive care syndrome in COVID-19 acute respiratory distress syndrome.

RESUMEN

Muscle weakness is a critical problem facing many older adults. Interventions targeting nervous system plasticity may show promise in enhancing strength. The purpose of this study was to examine the acute effects of action observation on muscular strength characteristics and corticospinal excitability in older adults. Isometric wrist flexion strength characteristics and corticospinal excitability of the first dorsal interosseous (FDI) were measured in 14 older adults (mean age = 73 years) in response to observation of (1) STRONG contractions of the hand/wrist, (2) WEAK contractions of the hand/wrist, and (3) a CONTROL condition. Results from repeated measures analyses of variance (ANOVAs) indicated that rate of torque development at 200 ms (RTD200) significantly decreased from PRE to POST observation for CONTROL and WEAK, but not STRONG. No other ANOVAs were significant. However, effect sizes indicated that maximal voluntary contraction (MVC) peak torque showed moderate declines following WEAK (d = - 0.571) and CONTROL (d = - 0.636), but not STRONG (d = 0.024). Similarly, rate of torque development at 30 (RTD30), 50 (RTD50), and 200 (RTD200) ms showed large declines from PRE to POST after WEAK and CONTROL, but small changes following STRONG. FDI motor-evoked potential (MEP) amplitude tended to increase over time, but these results were variable. There was a pronounced effect from PRE to 8MIN (d = 0.954) during all conditions. Action observation of strong contractions may exert a preservatory effect on muscular strength. More work is needed to determine whether this is modulated by increased corticospinal excitability. The study was prospectively registered (ClinicalTrials.gov Identifier: NCT03946709).

Asunto(s)

RESUMEN

Resumen La polimiositis es una miopatía autoinmune que causa cada año a nivel mundial 4 casos por cada millón de habitantes, es de diagnóstico clínico y necesita tratamiento rápido y agresivo porque puede llevar a desenlaces fatales. Esta patología es infrecuente en hombres con una proporción mujer/hombre de 2.5:1, por lo que el objetivo del artículo fue describir y comparar con la literatura el caso de un paciente masculino con polimiositis quien debutó con debilidad muscular y dolor poliarticular de 20 días de evolución, con valores de creatina quinasa de 24000 UI/L, asociado a pérdida de peso y respondiendo adecuadamente al tratamiento médico brindado en el momento. Después de 3 años asintomático, sufrió una agudización que fue manejada con medicamentos de primera línea, pero sin mejoría, por lo que requirió metilprednisolona oral a altas dosis e inmunomoduladores. En ningún momento presentó compromiso de órganos vitales, actualmente es sintomático y se encuentra en manejo médico. MÉD.UIS.2022;35(1):49-56.

Abstract Polymyositis is an autoimmune myopathy and each year it causes 4 cases per million in the worldwide population, it is clinically diagnosed and needs rapid and aggressive treatment because it can lead to fatal outcomes. This pathology is infrequent in men, with a proportion women/men 2.5:1, the objective of the article was to describe and compare with the literature the case of a male patient with polymyositis, who presented with muscle weakness and polyarticular pain of 20 days of evolution, with Creatine kinase values of 24,000 IU/L, associated with weight loss, and responding adequately to the medical treatment provided at the time. After 3 years asymptomatic, he suffered an acute phase that was managed with first-line medications but without improvement, for which he required oral methylprednisolone at high doses and inmunomodulators. At no time did he present vital organ involvement, he is currently symptomatic and is under medical management. MÉD.UIS.2022;35(1):49-56.

Asunto(s)

RESUMEN

BACKGROUND AND PURPOSE: Hereditary myopathies with limb-girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large cohort of patients with LGW. METHODS: This nationwide cohort study included patients with LGW suspected to be associated with hereditary myopathies. Parameters associated with specific genetic aetiologies were evaluated, and we further assessed how they predicted the detection of causative variants by conducting genetic analyses. RESULTS: Molecular diagnoses were identified in 62.0% (75/121) of the cohort, with a higher proportion of patients diagnosed by next-generation sequencing (NGS) than by single-gene testing (77.3% vs. 22.7% of solved cases). The median (interquartile range) time from onset to genetic diagnosis was 8.9 (3.7-19.9) and 17.8 (7.9-27.8) years for single-gene testing and NGS, respectively. The most common diagnoses were myopathies associated with variants in CAPN3 (n = 9), FKRP (n = 9), ANO5 (n = 8), DYSF (n = 8) and SGCA (n = 5), which together accounted for 32.2% of the cohort. Younger age at disease onset (p = 0.043), >10× elevated creatine kinase activity levels (p = 0.024) and myopathic electromyography findings (p = 0.007) were significantly associated with the detection of causative variants. CONCLUSIONS: Our findings suggest that an earlier use of NGS in patients with LGW is needed to avoid long diagnostic delays. We further present parameters predictive of a molecular diagnosis that may help to select patients for genetic analyses, especially in centres with limited access to sequencing.

Asunto(s)

RESUMEN

PURPOSE: Most mild traumatic brain injuries (TBIs) can be treated conservatively. However, some patients deteriorate during observation. Therefore, we tried to evaluate the characteristics of deterioration and requirement for further management in mild TBI patients. METHODS: From 1/1/2017 to 12/31/2017, patients with mild TBI and positive results on CT scans of the brain were retrospectively studied. Patients with and without neurological deteriorations were compared. The characteristics of mild TBI patients with further neurological deterioration or the requirement for interventions were delineated. RESULTS: One hundred ninety-two patients were enrolled. Twenty-three (12.0%) had neurological deteriorations. The proportions of deterioration occurring within 24 h, 48 h and 72 h were 23.5, 41.2 and 58%, respectively. Deteriorated patients were significantly older than those without neurological deteriorations (69.7 vs. 60.2; p = 0.020). More associated extracranial injuries were observed in deteriorated patients [injury severity score (ISS): 20.2 vs. 15.9; p = 0.005). Significantly higher proportions of intraventricular hemorrhage (8.7 vs. 1.2%; p = 0.018) and multiple lesions (78.3 vs. 53.8%; p = 0.027) were observed on the CT scans of patients with neurological deteriorations. Subset analysis showed that deteriorated patients who required neurosurgical interventions (N = 7) had significantly more initial GCS defects (13 or 14) (71.4 vs. 12.5%; p = 0.005) and more initial decreased muscle power of extremities (85.7 vs. 18.8%; p = 0.002). CONCLUSION: More attention should be given to mild TBI patients with older age, GCS defects, decreased muscle power of the extremities, multiple lesions on CT scans and other systemic injuries (high ISS). Most deteriorations occur within 72 h after trauma.

Asunto(s)

RESUMEN

Resumen La movilidad articular se conoce como la capacidad de movimiento de una articulación en conjunto con los diferentes grupos musculares. En el dolor cervical o cervicalgia, esta se puede ver alterada por varios factores como: el dolor, la debilidad muscular y la limitación. Objetivos : Determinar las alteraciones de la movilidad cervical en los estudiantes de 1er a 3er ciclo de la Carrera de Fisioterapia de la Universidad Católica de Santiago de Guayaquil. Metodología : Estudio de enfoque cuantitativo y alcance descriptivo de diseño no experimental de tipo transversal en 106 estudiantes, considerando los criterios de inclusión se utilizó el IDC y el Test de Flexión Cráneo-Cervical. Resultados : De la muestra conformada por 100%(106) estudiantes; utilizando el Índice de Discapacidad Cervical se pudo evidenciar que el 55% de la población entra en el rango de sin discapacidad, en comparación con el porcentaje sobrante que equivale a un 38% y 7% entran en el rango de discapacidad leve y discapacidad moderada respectivamente, en relación a la evaluación de la movilidad articular mediante el Test de Flexión Cráneo-Cervical el 79% presentó alteración y un 21% el valor normal, en la evaluación con el instrumento Stabilizer Pressure Biofeedback el 75% presentó alteración de la fuerza muscular y el 25 % el valor normal. Conclusiones : Entre los estudiantes de 1ro y 3er ciclo de la carrera de Fisioterapia de la Universidad Católica de Santiago de Guayaquil se determinó que existe un alto porcentaje en relación a las alteraciones de la movilidad cervical.

Abstract Joint mobility is known as the ability to move a joint in conjunction with the different muscle groups. In cervical pain or neck pain, this can be altered by several factors such as: pain, muscle weakness and limitation. Objective : To determine the alterations of cervical mobility in students from 1st to 3rd cycle of the Physiotherapy Career of the Catholic University of Santiago de Guayaquil. Methodology : Study with a quantitative approach and descriptive scope of a non-experimental cross-sectional design in 106 students, considering the inclusion criteria, the IDC and the Cranio-Cervical Flexion Test were used. Results : From the sample made up of 100% (106) students; Using the Cervical Disability Index, it was possible to show that 55% of the population falls into the range of without disability, compared to the excess percentage that is equivalent to 38% and 7%, they fall into the range of mild disability and moderate disability respectively. In relation to the evaluation of joint mobility using the Cranio-Cervical Flexion Test, 79% presented alteration and 21% the normal value, in the evaluation with the Stabilizer Pressure Biofeedback instrument, 75% presented alteration of muscle strength and 25% the normal value. Conclusions : Among the students of the 1st and 3rd cycle of the Physiotherapy career at the Catholic University of Santiago de Guayaquil, it was determined that there is a high percentage in relation to cervical mobility alterations.

Resumo A mobilidade articular é conhecida como a capacidade de mover uma articulação em conjunto com os diferentes grupos musculares. Na cervicalgia ou cervicalgia, isso pode ser alterado por vários fatores, tais como: dor, fraqueza muscular e limitação. Objetivo : Determinar as alterações da mobilidade cervical em alunos do 1º ao 3º ciclo da Carreira de Fisioterapia da Universidade Católica de Santiago de Guayaquil. Metodologia : Estudo com abordagem quantitativa e escopo descritivo de delineamento transversal não experimental em 106 alunos, considerando os critérios de inclusão, foram utilizados o IDC e o Teste de Flexão Crânio-Cervical. Resultados : Da amostra composta por 100% (106) alunos; Utilizando o Índice de Incapacidade Cervical, foi possível evidenciar que 55% da população se enquadra na faixa de sem incapacidade, em comparação ao percentual excedente que equivale a 38% e 7%, se enquadra na faixa de incapacidade leve e moderada Em relação à avaliação da mobilidade articular através do Teste de Flexão Crânio-Cervical, 79% apresentaram alteração e 21% o valor normal; na avaliação com o instrumento Estabilizador de Pressão Biofeedback, 75% apresentaram alteração da força muscular e 25% o valor normal. Conclusão : Entre os alunos do 1º e 3º ciclo da carreira de Fisioterapia da Universidade Católica de Santiago de Guayaquil, constatou-se que há um alto percentual em relação às alterações da mobilidade cervical.

RESUMEN

ABSTRACT Inclusion body myositis is part of the group of inflammatory myopathies, representing 30% of this group of diseases, and is considered an orphan disease because its estimated prevalence is less than 5 per 10,000 inhabitants. It produces weakness and atrophy of the proximal and distal muscles. The pathophysiological mechanisms are mainly autoimmune, inflammatory, and degenerative. The cases are presented of two female patients who came to : the emergency department due to progressive loss of upper and lower limb strength, and progressive asymmetric muscle weakness.

RESUMEN La miositis por cuerpos de inclusión forma parte del grupo de las miopatías inflamatorias, de las que representa el 30%; es considerada una enfermedad huérfana, ya que se estima que su prevalencia es menor a 5 por cada 10.000 habitantes. Produce debilidad y atrofia de los músculos proximales y distales. Los mecanismos fisiopatológicos son principalmente autoinmunes, inflamatorios y degenerativos. Se presentan 2 casos de mujeres, quienes acudieron a urgencias por pérdida progresiva de la fuerza en miembros superiores e inferiores, con debilidad muscular asimétrica de curso progresivo.

Asunto(s)

RESUMEN

Introducción: La debilidad es una complicación frecuente en el enfermo crítico por COVID-19. Se describen sus características, y los factores que pueden condicionarla y predecirla. Pacientes y métodos: Estudio observacional descriptivo prospectivo con pacientes ingresados en la unidad de cuidados intensivos (UCI) por COVID-19 entre abril y mayo de 2020 con debilidad muscular. Se consideró una afectación clínica grave un equilibrio motor igual o inferior a 3/5 según la escala de fuerza muscular modificada del Medical Research Council. Se han realizado 25 estudios analíticos, 16 estudios neurofisiológicos y una biopsia muscular; seguimiento telefónico al mes; análisis comparativo entre los grupos con y sin afectación grave, y determinación de puntos de corte de parámetros analíticos para predecir afectación grave mediante curvas ROC. Resultados: Se incluyó a 25 pacientes con 58 años (desviación estándar ± 9) de edad media. La mediana de estancia en la UCI fue de 27,5 días. Todos los electromiogramas mostraban un patrón miógeno y el 75%, también una neuropatía. El grupo con afectación clínica grave tenía mayores niveles de dímero-D (p = 0,08), lactato deshidrogenasa (p = 0,03) e interleucina 6 (p = 0,10), y la combinación de la alteración de dos cualquiera de estos tres parámetros pronosticaba la afectación grave con una sensibilidad del 100% y una especificidad del 76,9%. Al mes de seguimiento, el 36% no podía deambular autónomamente y el 92% seguía con debilidad muscular. Conclusiones: La debilidad en el enfermo por COVID-19 grave tiene una repercusión clínica importante. Su detección y estudio precoces mediante predictores de su desarrollo pueden permitir un mejor manejo. La ausencia en algunos casos de los factores de riesgo clásicos para la debilidad adquirida en la UCI sugiere una fisiopatología diferente.(AU)

Introduction: Weakness is a frequent complication in those critically ill due to COVID-19. This study describes its characteristics and the factors that can condition and predict it. Patients and methods: We conducted a prospective, descriptive, observational study of patients admitted to the intensive care unit (ICU) due to COVID-19 between April and May 2020 with muscle weakness. A motor balance equal to or lower than 3/5 according to the modified Medical Research Council muscle strength scale was considered to be severe clinical impairment. Altogether 25 analytical studies, 16 neurophysiological studies and one muscle biopsy were performed, with a telephone follow-up at one month, a comparative analysis between the groups with and without severe compromise, and determination of cut-off points for analytical parameters to predict severe involvement using ROC curves. Results: The sample consisted of 25 patients with a mean age of 58 years (standard deviation ± 9). The median length of stay in the ICU was 27.5 days. All the electromyograms exhibited a myogenic pattern and 75% also showed neuropathy. The group with severe clinical involvement had higher levels of D-dimer (p = 0.08), lactate dehydrogenase (p = 0.03) and interleukin-6 (p = 0.10), and the combination of the alteration of any two of these three parameters predicted severe involvement with a sensitivity of 100% and a specificity of 76.9%. At one month of follow-up, 36% were unable to walk autonomously and 92% continued with muscle weakness. Conclusions: Weakness in severe COVID-19 patients has a major clinical impact. Its early detection and study by means of predictors of its development may allow for better management. The absence in some cases of classical risk factors for ICU-acquired weakness suggests a different pathophysiology.(AU)

Asunto(s)

RESUMEN

BACKGROUND: In Behçet's disease (BD), very few cases of muscular involvement have been reported previously. The natural history and therapeutic protocol for muscular involvement in BD are obscure due to the low incidence of peripheral neuropathy or myopathy in BD. The purpose of our study was to report a rare case of BD with chronic, focal forms of neuromyopathy and review the relevant literature. CASE SUMMARY: We herein report the case of a 54-year-old man who presented with progressive muscular atrophy and weakness of both thighs 2 years after the presentation of the cardinal symptoms of BD. The past medical history, electrophysiological study, neurological examination, blood tests, magnetic resonance imaging study, and histological exam were performed for the differential diagnosis. Relevant literature on muscular involvement in BD was reviewed. Neurological examination revealed that muscular involvement was predominantly localized in the proximal parts of the lower extremities. Heterogeneous enhancement of several thigh muscles was observed on magnetic resonance imaging, which corresponded with the clinical manifestations. Histological study of one of the enhanced muscles showed denervation atrophy of the muscle with superimposed myopathic changes, while electrophysiological studies only suggested denervation. CONCLUSION: To our knowledge, this is the first case of neurogenic muscular atrophy with a specific set of clinical, radiological, electrophysiological, and histological findings reported in BD.

RESUMEN

Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have been described too. We systematically studied (para)clinical and histopathological findings in a cohort of 18 isolated yet suspected inherited myopathy patients, showing late-onset, slowly progressive limb-girdle muscle weakness, remaining unsolved after whole-exome sequencing. The presence of a monoclonal gammopathy of unknown significance (MGUS) and anti-HMGCR antibodies was determined. Biopsies were systematically re-evaluated and systematic immunohistochemical and electron microscopy studies were performed to particularly evaluate the presence of rods and/or inflammatory features. Ten patients showed rods as core feature on muscle biopsy on re-evaluation, four of these had an IgG κ MGUS in blood. As such, these ten patients represented suspected slowly progressing SLONM patients, with auxiliary data supporting this diagnosis: 1) additional muscle biopsy features pointing towards Z-disk and myofibrillar pathology; 2) a common selective pattern of muscle involvement on MRI; 3) inflammatory features on muscle biopsy. Findings in this proof-of-concept study highlight difficulties in reliably diagnosing slowly progressing SLONM and the probably underestimated prevalence of this entity in cohorts of whole exome sequencing negative myopathy patients, initially considered having an inherited myopathy.

Asunto(s)

RESUMEN

Congenital myasthenic syndromes (CMS) associated with pathogenic variants in the DOK7 gene (DOK7-CMS) have phenotypic overlap with other neuromuscular disorders associated with limb-girdle muscular weakness (LGMW). Genetic analysis of the most common mutation (c.1124_1127dupTGCC) in DOK7 was performed in 34 patients with "unexplained" LGMW associated with non-specific changes in muscle biopsy. Of the 34 patients, one patient showed the DOK7 c.1124_1127dupTGCC variant in homozygousity. Our study estimates the minimum prevalence of undiagnosed DOK7-CMS to be 2.9% in southern Brazilian patients from our centre. Our data confirm that clinicians should look for DOK7-CMS patients when the clinical manifestation is an 'unexplained' LGMW, mainly if associated with non-specific changes in muscle biopsy.

Asunto(s)

RESUMEN

Insulin-like growth factor-1 (IGF-1) and growth hormone (GH) levels are the main targets for monitoring acromegaly activity, but they are not in close relationship with the clinical course of the disease and the associated comorbidities. The present study was aimed at identifying metabolites that could be used as biomarkers for a better disease phenotyping. For this purpose, metabolic fingerprint using an untargeted metabolomic approach was examined in serum from 30 patients with acromegaly and 30 age-matched controls. Patients with acromegaly presented fewer branched-chain amino acids (BCAAs) compared to the control group (valine: 4.75 ± 0.87 vs. 5.20 ± 1.06 arbitrary units (AUs), p < 0.05; isoleucine: 2.54 ± 0.41 vs. 2.80 ± 0.51 AUs; p < 0.05). BCAAs were also lower in patients with active disease compared to patients with normal levels of IGF-1 with or without medical treatment. GH, but not IGF-1, serum levels were inversely correlated with both valine and isoleucine. These findings indicate that low levels of BCAAs represent the main metabolic fingerprint of acromegaly and that GH, rather than IGF-1, might be the primary mediator. In addition, our results suggest that the assessment of BCAAs could help to identify active disease and to monitor the response to therapeutic strategies.

RESUMEN

BACKGROUND: Associations between grip strength and mental health disorders have been established; however, associations between grip strength and Generalized Anxiety Disorder (GAD) remain unstudied. Therefore, this study investigates associations between grip strength and prevalent and incident GAD. METHODS: A prospective cohort design was utilized. At baseline, participants aged ≥50 years (N = 3,952) completed a hand grip strength assessment and abbreviated Penn State Worry Questionnaire (PSWQ) and were divided into sex-specific tertiles based on strength. A score of ≥23 on the PSWQ defined caseness of GAD. At two-year follow-up, GAD was assessed with the Composite International Diagnostic Interview-Short Form. RESULTS: Prevalence and incidence of GAD were 18.2% (N = 718) and 0.9% (N = 29), respectively. Adjusting for age, sex, waist circumference, social class, smoking status, and physical activity, a one-standard-deviation (1-SD) increase in strength was associated (OR, 95%CI) with 12.1% (OR = 0.88, 0.80-0.96; p < 0.01) lower odds of prevalent GAD, and middle and high strength tertiles were associated with 27.3% (OR = 0.73, 0.59-0.89; p < 0.01) and 23.1% (OR = 0.77, 0.62-0.95; p < 0.05) lower odds, respectively. A 1-SD increase in strength was non-significantly associated with 24.2% (OR = 0.76, 0.50-1.14) lower odds of incident GAD, and middle and high strength tertiles were non-significantly associated with 31.4% (OR = 0.69, 0.30-1.58) and 66.5% (OR = 0.34, 0.11-1.00) lower odds, respectively (all p > 0.05). There was no significant interaction between strength tertiles and sex. LIMITATIONS: The observational nature of the study limits inferring causality. CONCLUSIONS: Increased hand grip strength may be associated with lower odds of developing GAD in older adults. Larger investigations of prospective associations are needed.

Asunto(s)

RESUMEN

OBJECTIVE: To report a case of acute barium poisoning in a dog subsequent to ingestion of a common handheld pyrotechnic (sparkler). CASE SUMMARY: A 5-year-old female neutered German Shorthaired Pointer presented with acute onset of generalized flaccid muscle paralysis and fasciculations, ptyalism, and an irregular heart rhythm. Marked hypokalemia (1.9 mmol/L [mEq/L]; reference range [3.5-5.8 mmol/L [mEq/L]), acidemia (pH 7.20; reference range 7.38-7.44), and hypoventilation (PvCO2 55 mm Hg; reference range 40-50 mm Hg) were present on admission. Treatment consisted of fluid therapy, aggressive IV potassium chloride supplementation, gastric lavage, and oral magnesium sulfate administration. Based on history and clinical presentation, barium intoxication after ingestion of handheld firework (sparklers) was suspected and a serum sample was submitted for barium analysis. The serum barium concentration determined by inductively coupled plasma/mass spectrometry was 2,000 µg/L, a 3 orders of magnitude elevation above previously reported normal values in dogs. Within 18 hours of admission, the clinical signs resolved and the blood potassium concentration normalized. The animal was discharged home 36 hours after admission. On follow-up performed after 1 and 5 years, no health issues were apparent. NEW INFORMATION PROVIDED: To the authors' knowledge, this is the first report of acute, life-threatening barium toxicosis characterized by flaccid paralysis, acidemia, and severe hypokalemia occurring in a dog after ingestion of a popular pyrotechnic (sparkler) containing barium nitrate. Clinical signs may resolve within 24 hours with appropriate supportive care including aggressive potassium supplementation and chelation therapy.

Asunto(s)