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1.
Sci Rep ; 14(1): 12089, 2024 05 27.
Article En | MEDLINE | ID: mdl-38802388

Critical illness survivors commonly face impairments, such as intensive care unit-acquired weakness (ICUAW) which is characterized by muscle weakness and sensory deficits. Despite these symptoms indicating potential balance deficits, systematic investigations and validated assessments are lacking. Therefore, we aimed to assess balance function using the Mini-BESTest, evaluate its psychometric properties, and identify associated variables. Balance was assessed post-ICU discharge (V1) and at discharge from inpatient neurorehabilitation (V2) in patients with ≥ 5 days of invasive ventilation. Mini-BESTest measurement characteristics were evaluated in an ambulatory subgroup. A multiple linear regression was conducted. The prospective cohort study comprised 250 patients (34% female, 62 ± 14 years, median ICU stay 55 days). Median Mini-BESTest scores improved significantly from V1 (5 (IQR 0-15)) to V2 (18.5 (10-23)) with a large effect size. Excellent inter-rater and test-retest reliabilities of the Mini-BESTest were observed (ICC = 0.981/0.950). Validity was demonstrated by a very high correlation with the Berg Balance Scale (ρ = 0.90). No floor or ceiling effects were detected. Muscle strength, cognitive function, cerebral disease, critical illness polyneuropathy/myopathy, and depression were significantly associated with balance. Despite significant improvements during the rehabilitation period, balance disorders were prevalent in critical illness survivors. Ongoing therapy is recommended. Due to its excellent psychometric properties, the Mini-BESTest is suitable for use in critical illness survivors.Registration: The study was registered at the German Clinical Trials Register (DRKS00021753, date of registration: 2020-09-03).


Critical Illness , Postural Balance , Psychometrics , Survivors , Humans , Female , Middle Aged , Psychometrics/methods , Critical Illness/rehabilitation , Male , Postural Balance/physiology , Aged , Prospective Studies , Intensive Care Units , Muscle Weakness/physiopathology , Muscle Weakness/diagnosis , Muscle Strength/physiology
2.
BMJ Case Rep ; 17(5)2024 May 09.
Article En | MEDLINE | ID: mdl-38724210

Hyperkalaemia is one of the common electrolyte imbalances dealt with in the emergency department and is caused by extracellular accumulation of potassium ions above normal limits usually greater than 5.0-5.5 mmol/L. It is found in a total of 1-10% of hospitalised patients usually associated with chronic kidney disease and heart failure. The presentation can range from being asymptomatic to deadly arrhythmias. The appearance of symptoms depends on the rate of change rather than just the numerical values. The rare presentation includes periodic paralysis characterised by the sudden onset of short-term muscle weakness, stiffness or paralysis. Management goals are directed towards reducing potassium levels in emergency settings and later on avoiding the triggers for future attacks. In this case, we present a man in his 50s with the generalised weakness later on diagnosed as hyperkalaemic periodic paralysis secondary to tumour lysis syndrome. Emergency physicians dealing with common electrolyte imbalances should keep a sharp eye on their rare presentation and their precipitating factors and should act accordingly.


Emergency Service, Hospital , Hyperkalemia , Humans , Male , Hyperkalemia/etiology , Hyperkalemia/diagnosis , Hyperkalemia/therapy , Middle Aged , Paralysis, Hyperkalemic Periodic/diagnosis , Paralysis, Hyperkalemic Periodic/complications , Potassium/blood , Potassium/therapeutic use , Diagnosis, Differential , Muscle Weakness/etiology
4.
An Acad Bras Cienc ; 96(2): e20231164, 2024.
Article En | MEDLINE | ID: mdl-38747799

Intensive Care Unit-acquired weakness (ICU-AW) is a common complication that significantly impedes patient recovery. In the study, we investigated the correlation between early serum myoglobin levels in patients with septic shock due to pneumonia, and the incidence of ICU-AW, duration of mechanical ventilation, and prognosis. Patients were classified based on the development of ICU-AW within the first 10 days of ICU admission. We measured serum myoglobin levels upon ICU entry, and analyzed demographic data, APACHE II scores, use of mechanical ventilation, and clinical outcomes, including mortality and duration of mechanical ventilation. The results indicated significantly elevated serum myoglobin levels in the ICU-AW group, correlated with prolonged mechanical ventilation and increased mortality. ROC analysis revealed myoglobin as a promising biomarker for predicting ICU-AW, with an area under the curve of 0.843 (95% CI: 0.819~0.867), demonstrating a sensitivity of 76.00% and specificity of 82.30%. These findings underscored serum myoglobin as a predictive biomarker for early ICU-AW in septic shock patients, highlighting its potential to guide clinical decision-making.


Biomarkers , Intensive Care Units , Muscle Weakness , Myoglobin , Shock, Septic , Humans , Shock, Septic/blood , Myoglobin/blood , Male , Female , Middle Aged , Biomarkers/blood , Prognosis , Muscle Weakness/blood , Aged , Incidence , Respiration, Artificial , APACHE , ROC Curve
5.
Article En | MEDLINE | ID: mdl-38709603

Neck muscle weakness due to amyotrophic lateral sclerosis (ALS) can result in dropped head syndrome, adversely impacting the quality of life of those affected. Static neck collars are currently prescribed to hold the head in a fixed upright position. However, these braces are uncomfortable and do not allow any voluntary head-neck movements. By contrast, powered neck exoskeletons have the potential to enable head-neck movements. Our group has recently improved the mechanical structure of a state-of-the-art neck exoskeleton through a weighted optimization. To evaluate the effect of the structural changes, we conducted an experiment in which patients with ALS were asked to perform head-neck tracking tasks while using the two versions of the neck exoskeleton. We found that the neck muscle activation was significantly reduced when assisted by the structurally enhanced design compared to no assistance provided. The improved structure also improved kinematics tracking performance, allowing users to better achieve the desired head poses. In comparison, the previous design did not help reduce the muscle effort required to perform these tasks and even slightly worsened the kinematic tracking performance. It was also found that biomechanical benefits gained from using the structurally improved design were consistent across participants with both mild and severe neck weakness. Furthermore, we observed that participants preferred to use the powered neck exoskeletons to voluntarily move their heads and make eye contact during a conversation task rather than remain in a fixed upright position. Each of these findings highlights the importance of the structural design of neck exoskeletons in achieving desired biomechanical benefits and suggests that neck exoskeletons can be a viable method to improve the daily life of patients with ALS.


Amyotrophic Lateral Sclerosis , Exoskeleton Device , Neck Muscles , Humans , Amyotrophic Lateral Sclerosis/physiopathology , Male , Female , Middle Aged , Neck Muscles/physiopathology , Biomechanical Phenomena , Aged , Electromyography , Head Movements , Neck/physiopathology , Equipment Design , Adult , Muscle Weakness/physiopathology
6.
Prim Care ; 51(2): 311-326, 2024 Jun.
Article En | MEDLINE | ID: mdl-38692777

Muscle weakness and pain can be seen in orthopedic, rheumatologic, cardiac, and musculoskeletal conditions in addition to neurologic disorders. Myopathy, which describes a heterogenous group of hereditary and acquired disorders that affect muscle channels, structure, and metabolism, is one possible cause. This review focuses on essential information to support primary care providers as they assess patients with muscle weakness and pain for myopathy. As with most neurologic disorders, a thorough clinical history and physical examination are essential first steps. These findings will then guide diagnostic testing and facilitate appropriate management or referral for further neuromuscular care.


Muscle Weakness , Muscular Diseases , Physical Examination , Humans , Muscle Weakness/diagnosis , Muscular Diseases/diagnosis , Primary Health Care , Myalgia/diagnosis , Diagnosis, Differential , Medical History Taking
7.
JBJS Case Connect ; 14(2)2024 Apr 01.
Article En | MEDLINE | ID: mdl-38788051

CASE: An 8-year-old girl with a history of acute flaccid paralysis presented with chronic valgus drop foot causing tripping and falling. Traditionally surgical correction of this deformity is accomplished by transferring the posterior tibialis tendon to enhance dorsiflexion. The authors describe a new technique which transfers the peroneus longus tendon to the dorsum of the foot in a patient with weakness of the posterior tibialis muscle. The patient's drop foot and gait were improved at the 22-month follow-up. CONCLUSION: Successful transfer of the peroneus longus was accomplished with improved limb clearance during gait and coronal alignment in stance.


Gait Disorders, Neurologic , Muscle Weakness , Tendon Transfer , Humans , Female , Child , Tendon Transfer/methods , Gait Disorders, Neurologic/surgery , Gait Disorders, Neurologic/etiology , Muscle Weakness/surgery , Muscle Weakness/etiology
8.
Sci Rep ; 14(1): 11225, 2024 05 16.
Article En | MEDLINE | ID: mdl-38755190

Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal muscles or proximal muscles. While the mutations in most of the MD-associated genes lead to either distal or proximal onset, there are also genes whose mutations can cause both types of onsets. We hypothesized that the genes associated with different MD onsets code proteins with distinct cellular functions. To investigate this, we collected the MD-associated genes and assigned them to three onset groups: genes mutated only in distal onset dystrophies, genes mutated only in proximal onset dystrophies, and genes mutated in both types of onsets. We then systematically evaluated the cellular functions of these gene sets with computational strategies based on functional enrichment analysis and biological network analysis. Our analyses demonstrate that genes mutated in either distal or proximal onset MDs code proteins linked with two distinct sets of cellular processes. Interestingly, these two sets of cellular processes are relevant for the genes that are associated with both onsets. Moreover, the genes associated with both onsets display high centrality and connectivity in the network of muscular dystrophy genes. Our findings support the hypothesis that the proteins associated with distal or proximal onsets have distinct functional characteristics, whereas the proteins associated with both onsets are multifunctional.


Muscle Weakness , Muscular Dystrophies , Mutation , Humans , Muscular Dystrophies/genetics , Muscle Weakness/genetics , Gene Regulatory Networks , Computational Biology/methods , Muscle, Skeletal/metabolism , Muscle, Skeletal/physiopathology , Muscle, Skeletal/pathology
9.
Arch Endocrinol Metab ; 68: e230026, 2024 May 06.
Article En | MEDLINE | ID: mdl-38709150

Muscle weakness has been associated to insulin resistance and metabolic syndrome in the general population. However, it is still unclear whether this association is maintained in older adults. This study investigated correlations between low handgrip strength (HGS) and metabolic syndrome, or some of its components, in older adults through a systematic review of the literature. Searches were conducted in the Virtual Health Library Regional Portal, Scopus, Cochrane, Embase, MEDLINE/ PubMed, SciELO, and Web of Science databases for relevant studiesinvestigating muscle weakness (measured by hand dynamometer) and metabolic syndrome or its components in older adult populations, published up to September 2023. From the 2050 references initially identified, 20 studies, comprising a total of 31,264 older adults of both genders, completely met the inclusion/exclusion criteria. Eighteen studies showed that lower HGS was associated with metabolic syndrome or some of its risk factors, such as abdominal obesity, hyperglycemia, insulin resistance, dyslipidemia, or high blood pressure. Two studies found that older men with high blood pressure had increased HGS. Most studies included in this systematic review revealed a significant correlation between reduced HGS and metabolic syndrome or some of its components, especially abdominal obesity and insulin resistance. We conclude that below-average HGS can be associated with metabolic syndrome in older adults.


Hand Strength , Metabolic Syndrome , Humans , Metabolic Syndrome/physiopathology , Hand Strength/physiology , Aged , Male , Female , Muscle Weakness/physiopathology , Risk Factors , Insulin Resistance/physiology
10.
Med. intensiva (Madr., Ed. impr.) ; 48(4): 211-219, abr. 2024. tab, graf
Article En, Es | IBECS | ID: ibc-231956

Objetivo Evaluar la eficacia del protocolo Start to move comparado con el tratamiento convencional en sujetos mayores de 15 años hospitalizados en la UCI sobre una mejoría en funcionalidad, disminución de debilidad adquirida en la UCI (DA-UCI), incidencia de delirio, días de ventilación mecánica (VM), estadía en la UCI y mortalidad a los 28 días. Diseño Ensayo clínico controlado aleatorizado. Ámbito Unidad de paciente crítico. Participantes Incluye adultos mayores a 15 años con VMI mayor a 48h, asignación aleatoria. Intervenciones Protocolo «Start to move» y tratamiento convencional. Variables de interés principales Se analizó funcionalidad, incidencia DA-UCI, incidencia delirio, días VM, estadía UCI y mortalidad-28 días, ClinicalTrials.gov número, NCT05053724. Resultados Sesenta y nueve sujetos fueron ingresados al estudio, 33 al grupo Start to move y 36 a tratamiento convencional, comparables clínico y sociodemograficamente. En el grupo Start to move la incidencia DAUCI al egreso de la UCI fue de 35,7 vs. 80,7% grupo tratamiento convencional (p=0,001). La funcionalidad (FSS-ICU) al egreso de la UCI corresponde a 26 vs. 17 puntos a favor del grupo Start to move (p=0,001). La diferencia en Barthel al egreso de la UCI fue del 20% a favor del grupo Start to move (p=0,006). No hubo diferencias significativas en incidencia de delirio, días de VM, estadía UCI y mortalidad-28 días. El estudio no reportó eventos adversos, ni suspensión de protocolo. Conclusiones La aplicación del protocolo Start to move en la UCI se asoció reducción en la incidencia DA-UCI, aumento en funcionalidad y menor caída en puntaje Barthel al egreso. (AU)


Objective To evaluate the efficacy of the Start to move protocol compared to conventional treatment in subjects over 15 years of age hospitalized in the ICU on an improvement in functionality, decrease in ICU-acquired weakness (IUCD), incidence of delirium, days of mechanical ventilation (MV), length of stay in ICU and mortality at 28 days. Design Randomized controlled clinical trial. Setting Intensive care unit. Participants Includes adults older than 15 years with invasive mechanical ventilation more than 48h, randomized allocation. Interventions Start to move protocol and conventional treatment. Main variables of interest Functionality, incidence of ICU-acquired weakness, incidence of delirium, days on mechanical ventilation, ICU stay and mortality-28 days, ClinicalTrials.gov number, NCT05053724. Results Sixty-nine subjects were admitted to the study, 33 to the Start to move group and 36 to conventional treatment, clinically and sociodemographic comparable. In the “Start to move” group, the incidence of IUCD at ICU discharge was 35.7% vs. 80.7% in the “conventional treatment” group (P=.001). Functionality (FSS-ICU) at ICU discharge corresponds to 26 vs. 17 points in favor of the “Start to move” group (P=.001). The difference in Barthel at ICU discharge was 20% in favor of the “Start to move” group (P=.006). There were no significant differences in the incidence of delirium, days of mechanical ventilation, ICU stay and 28-day mortality. The study did not report adverse events or protocol suspension. Conclusions The application of the “Start to move” protocol in ICU showed a reduction in the incidence of IUCD, an increase in functionality and a smaller decrease in Barthel score at discharge. (AU)


Humans , Male , Female , Middle Aged , Aged , Intensive Care Units , Early Ambulation/methods , Respiratory Mechanics , Physical Therapy Modalities/instrumentation , Muscle Weakness/therapy , Respiratory Insufficiency/therapy
11.
Farm. comunitarios (Internet) ; 16(2): 37-42, Abr. 2024. tab
Article Es | IBECS | ID: ibc-232406

Paciente de 78 años, polimedicada e incluida en el servicio de Sistema Personalizado de Dosificación de Medicamentos (SPD). Al acudir a retirar su medicación nos informa que desde hace unos meses sufre cansancio, debilidad, mareos y confusión. Se realiza una revisión de la medicación, centrada en la dosificación de los medicamentos de metabolismo o eliminación renal, en función del valor de Filtrado Glomerular estimado de la paciente (FGe). Se realiza derivación al Médico de Atención Primaria (MAP) mediante un informe, en el que se recomienda la reducción de dosis de losartán y manidipino según el valor de FGe de la paciente. El MAP redujo la dosis de los antihipertensivos. Se efectuó seguimiento del caso, que permitió observar que la paciente dejó de presentar los síntomas descritos inicialmente.(AU)


Humans , Female , Aged , Polypharmacy , Dosage , Renal Insufficiency/drug therapy , Dosage Forms , Designer Drugs , Physical Examination , Confusion , Dizziness , Inpatients , Muscle Weakness
12.
J Neurol Sci ; 460: 123021, 2024 May 15.
Article En | MEDLINE | ID: mdl-38653115

BACKGROUND: Late-onset Pompe disease (LOPD) patients may still need ventilation support at some point of their disease course, despite regular recombinant human alglucosidase alfa treatment. This suggest that other pathophysiological mechanisms than muscle fibre lesion can contribute to the respiratory failure process. We investigate through neurophysiology whether spinal phrenic motor neuron dysfunction could contribute to diaphragm weakness in LOPD patients. MATERIAL AND METHODS: A group of symptomatic LOPD patients were prospectively studied in our centre from January 2022 to April 2023. We collected both demographic and clinical data, as well as neurophysiological parameters. Phrenic nerve conduction studies and needle EMG sampling of the diaphragm were perfomed. RESULTS: Eight treated LOPD patients (3 males, 37.5%) were investigated. Three patients (37.5%) with no respiratory involvement had normal phrenic nerve motor responses [median phrenic compound muscle action potential (CMAP) amplitude of 0.49 mV; 1st-3rd interquartile range (IQR), 0.48-0.65]. Those with respiratory failure (under nocturnal non-invasive ventilation) had abnormal phrenic nerve motor responses (median phrenic CMAP amplitude of 0 mV; 1st-3rd IQR, 0-0.15), and were then investigated with EMG. Diaphragm needle EMG revealed both myopathic and neurogenic changes in 3 (60%) and myopathic potentials in 1 patient. In the last one, no motor unit potentials could be recruited. CONCLUSIONS: Our study provide new insights regarding respiratory mechanisms in LOPD, suggesting a contribution of spinal phrenic motor neuron dysfunction for diaphragm weakness. If confirmed in further studies, our results recommend the need of new drugs crossing the blood-brain barrier.


Diaphragm , Electromyography , Glycogen Storage Disease Type II , Motor Neurons , Muscle Weakness , Phrenic Nerve , Humans , Glycogen Storage Disease Type II/complications , Glycogen Storage Disease Type II/physiopathology , Male , Diaphragm/physiopathology , Female , Middle Aged , Muscle Weakness/etiology , Muscle Weakness/physiopathology , Phrenic Nerve/physiopathology , Motor Neurons/physiology , Motor Neurons/pathology , Adult , Neural Conduction/physiology , Muscle Fibers, Skeletal/pathology , Muscle Fibers, Skeletal/physiology , Aged , Respiratory Insufficiency/etiology , Respiratory Insufficiency/physiopathology , Prospective Studies , Action Potentials/physiology
13.
J Patient Rep Outcomes ; 8(1): 45, 2024 Apr 20.
Article En | MEDLINE | ID: mdl-38641716

BACKGROUND: Chronic obstructive pulmonary disease (COPD) and muscle weakness can cause impaired physical function, significantly impacting patients' health-related quality of life (HRQoL). Loss of muscle strength is usually assessed through clinical and performance outcome (PerfO) assessments, which consists of tasks performed in a standardized manner, providing evidence of a patient's functional ability. However, evidence documenting the patient experience of COPD and muscle weakness is limited. METHODS: This two-stage qualitative study used semi-structured interviews in patients aged 45-80 years with COPD (post-bronchodilator forced expiratory volume in 1s [FEV1]/forced vital capacity ratio < 0.70, and FEV1% predicted of 30-80%) and muscle weakness. In Stage 1, 30-minute concept elicitation interviews were conducted with participants recruited across three US sites to explore impacts on physical functioning and activities of daily living. In Stage 2, interviews were performed with participants exiting a Phase IIa trial investigating the efficacy of a selective androgen receptor modulator (GSK2881078) on leg strength, whereby PerfOs were used to evaluate strength and physical functioning endpoints. These participants completed either 60-minute in-depth (n = 32) or 15-minute confirmatory (n = 35) interviews exploring trial experience, completion of outcome measures, disease experience and treatment satisfaction. RESULTS: In Stage 1 (n = 20), most participants described their muscles as weak (83.3%). Difficulties with walking (100%) and lifting heavy objects (90%) were reported. In Stage 2, 60-minute interviews, all participants (n = 32) reported a positive trial experience. Most participants reported that the home exercise program was easy to fit into daily life (77.8%), the PROactive daily diary was easy to complete (100%) and wearable sensors were easy to use (65.6%). However, technical issues were reported (71%), and few participants (19.4%) found physical assessments easy to complete. Improvements in muscle strength and functional limitations were reported by most participants. The shorter 15-minute confirmatory interviews (n = 35) supported the in-depth interview results. CONCLUSION: The qualitative interviews generated in-depth evidence of key concepts relevant to patients with COPD and muscle weakness and support the assessments of patient strength and physical function as outcome measures in this population in future studies. TRIAL NUMBER: GSK Stage 1: 206869; Stage 2: 200182, NCT03359473; Registered December 2, 2017, https://clinicaltrials.gov/ct2/show/NCT03359473 .


Pulmonary Disease, Chronic Obstructive , Quality of Life , Humans , Activities of Daily Living , Muscle Weakness/drug therapy , Outcome Assessment, Health Care , Paresis , Pulmonary Disease, Chronic Obstructive/drug therapy
15.
J Med Case Rep ; 18(1): 210, 2024 Apr 27.
Article En | MEDLINE | ID: mdl-38671477

BACKGROUND: Tuberculous meningitis (TBM) accounts for about 1% of all tuberculosis cases and about 5% of extrapulmonary tuberculosis cases. However, it poses major importance because approximately half of those affected die or become severely disabled. Herein, the successful treatment of an 11-month-old boy with progressive limb weakness, fever, developmental retardation, and loss of consciousness due to tuberculosis, was reported. CASE PRESENTATION: An 11-month-old (Iranian Turk) boy was referred to Loghman Hakim hospital for progressive limb weakness and loss of previously attained developmental milestones for the past 2 months. He also had persistent fever and loss of consciousness for about 14 to 21 days. Before being referred to our center, the patient had been diagnosed with hydrocephalus at another center due to possible acute bacterial meningitis based on a CT scan and MRI imaging. On physical examination, anterior fontanel bulging and neck stiffness were observed on the admission. His body temperature and heart rate were 38.1 C and 86 beats per minute (bpm), respectively. He had left 6 cranial nerve palsy and spastic quadriparesis with a power of grade 3/5. Other systemic examinations were normal. Endoscopic third ventriculostomy (ETV) (and leptomeningeal biopsy) revealed diffuse thickening of the floor and lateral walls of the 3rd ventricle and also a cobblestone appearance in the form of multiple white patchy lesions was detected on the floor of the 3rd ventricle. CSF analysis and polymerase chain reaction confirmed the TB meningitis. During hospitalization, a temporary EVD (external ventricular drain) was initially inserted. Eventually, defervescence was denoted 5-6 days after initiation of anti-TB medications, and a permanent ventriculoperitoneal shunt was inserted due to hydrocephalus. Gradually his truncal and limb tone and motor function improved, as did his emotional responses to his parents and ability to eat. The patient can walk without help in the 15th month following the operation and resolved hydrocephalus demonstrated on follow-up imaging. CONCLUSION: Over half of treated TB meningitis patients die or suffer severe neurological sequelae, mainly due to late diagnosis. Hence, early diagnosis and prompt initiation of TB treatment offer the best chance of a good neurological outcome.


Antitubercular Agents , Fever , Muscle Weakness , Tuberculosis, Meningeal , Humans , Male , Tuberculosis, Meningeal/complications , Tuberculosis, Meningeal/diagnosis , Infant , Fever/etiology , Muscle Weakness/etiology , Antitubercular Agents/therapeutic use , Unconsciousness/etiology , Developmental Disabilities , Hydrocephalus/surgery , Magnetic Resonance Imaging , Ventriculostomy , Treatment Outcome
16.
BMC Pulm Med ; 24(1): 194, 2024 Apr 22.
Article En | MEDLINE | ID: mdl-38649898

BACKGROUND: Patients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and respiratory failure. Pulmonary hypertension (PH) associated with this condition has never been reported in congenital ryanodine receptor type 1(RYR1)-related myopathy. CASE PRESENTATION: A 47-year-old woman was admitted with progressively exacerbated chest tightness and difficulty in neck flexion. She was born prematurely at week 28. Her bilateral lower extremities were edematous and muscle strength was grade IV-. Arterial blood gas analysis revealed hypoventilation syndrome and type II respiratory failure, while lung function test showed restrictive ventilation dysfunction, which were both worse in the supine position. PH was confirmed by right heart catheterization (RHC), without evidence of left heart disease, congenital heart disease, or pulmonary artery obstruction. Polysomnography indicated nocturnal hypoventilation. The ultrasound revealed reduced mobility of bilateral diaphragm. The level of creatine kinase was mildly elevated. Magnetic resonance imaging showed myositis of bilateral thigh muscle. Muscle biopsy of the left biceps brachii suggested muscle malnutrition and congenital muscle disease. Gene testing revealed a missense mutation in the RYR1 gene (exon33 c.C4816T). Finally, she was diagnosed with RYR1-related myopathy and received long-term non-invasive ventilation (NIV) treatment. Her symptoms and cardiopulmonary function have been greatly improved after 10 months. CONCLUSIONS: We report a case of RYR1-related myopathy exhibiting hypoventilation syndrome, type II respiratory failure and PH associated with restrictive ventilator dysfunction. Pulmonologists should keep congenital myopathies in mind in the differential diagnosis of type II respiratory failure, especially in patients with short stature and muscle weakness.


Hypertension, Pulmonary , Muscle Weakness , Respiratory Insufficiency , Ryanodine Receptor Calcium Release Channel , Humans , Female , Ryanodine Receptor Calcium Release Channel/genetics , Middle Aged , Muscle Weakness/etiology , Hypertension, Pulmonary/etiology , Hypertension, Pulmonary/genetics , Respiratory Insufficiency/etiology , Mutation, Missense , Magnetic Resonance Imaging , Muscular Diseases/genetics , Muscular Diseases/diagnosis , Muscular Diseases/complications
20.
Article En | MEDLINE | ID: mdl-38652620

Individuals with neurological disorders often exhibit altered manual dexterity and muscle weakness in their upper limbs. These motor impairments with tremor lead to severe difficulties in performing Activities of Daily Living (ADL). There is a critical need for ADL-focused robotic training that improves individual's strength when engaging with dexterous ADL tasks. This research introduces a new approach to training ADLs by employing a novel robotic rehabilitation system, Spherical Parallel INstrument for Daily Living Emulation (SPINDLE), which incorporates Virtual Reality (VR) to simulate ADL tasks. The study results present the feasibility of training individuals with movements similar to ADLs while interacting with the SPINDLE. A new game-based robotic training paradigm is suggested to perform ADL tasks at various intensity levels of resistance as needed. The proposed system can facilitate the training of various ADLs requiring 3-dimensional rotational movements by providing optimal resistance and visual feedback. We envision this system can be utilized as a table-top home device by restoring the impaired motor function of individuals with tremor and muscle weakness, guiding to improved ADL performance and quality of life.


Activities of Daily Living , Robotics , Tremor , Virtual Reality , Humans , Tremor/rehabilitation , Tremor/physiopathology , Male , Female , Middle Aged , Resistance Training/methods , Feedback, Sensory , Adult , Video Games , Feasibility Studies , Muscle Weakness/rehabilitation , Muscle Weakness/physiopathology , Quality of Life
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