Intensive care unit acquired muscle weakness (ICU-AW) is a neuromuscular complication secondary to severe illness. The essence for this disease is skeletal muscle dysfunction. With the development of medical technology, the survival rate for severe patients has been significantly improved. The long term complications for the severe patients with ICU-AW are getting more and more common, and they seriously affect the quality of life and prognosis of patients. However, the current treatment is ineffective. Establishment of ICU-AW animal model is an important way to study the pathogenesis and intervention targets for this disease. There are many risk factors for this disease, and the principles for ICU-AW animal models are not the same at home and abroad, and the methods of preparation are different. The choice of a reasonable animal model is important for the reliability of the results.
Animals ; Critical Illness ; Disease Models, Animal ; Humans ; Intensive Care Units ; Muscle Weakness ; etiology ; mortality ; Muscle, Skeletal ; physiopathology ; Prognosis ; Quality of Life ; Reproducibility of Results ; Survival Rate

BACKGROUNDMyopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected.

METHODSA clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out.

RESULTSDisease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found.

CONCLUSIONSWe reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.

Adolescent ; Adult ; Child ; Deafness ; diagnosis ; physiopathology ; Dysarthria ; diagnosis ; physiopathology ; Electromyography ; Female ; Humans ; Male ; Muscle Weakness ; diagnosis ; physiopathology ; Muscle, Skeletal ; pathology ; physiopathology ; Muscular Diseases ; diagnosis ; physiopathology ; Muscular Dystrophy, Oculopharyngeal ; diagnosis ; physiopathology ; Pedigree ; Vacuoles ; pathology ; Vision Disorders ; diagnosis ; physiopathology ; Young Adult

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.
Activities of Daily Living ; Adult ; Age of Onset ; Asian Continental Ancestry Group/*genetics ; Bulbo-Spinal Atrophy, X-Linked/genetics/*physiopathology ; Disease Progression ; Female ; Genes, Recessive ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Muscle Weakness/*physiopathology ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic/*genetics ; Phenotype ; Receptors, Androgen/*genetics ; Republic of Korea ; Trinucleotide Repeats/genetics

A young woman with severe vitamin D deficiency presented with proximal muscle weakness, fragility fracture and pseudoarthrosis. On evaluation, she was found to have hypercalcaemia, a single parathyroid adenoma and an undetectable 25-hydroxyvitamin D level. She received parenteral cholecalciferol and subsequently underwent curative parathyroidectomy. Postoperatively, she had hungry bone syndrome, which she gradually recovered from with calcium and calcitriol replacement. Notably, her calcium levels were in the lower limit of normal range and associated with elevated alkaline phosphatase levels at postoperative Day 14. Follow-up for the next four years showed that the patient had remarkable symptomatic and radiological improvements. In this report, we discuss the pathophysiological interactions between vitamin D deficiency and associated primary hyperparathyroidism.
Adenoma ; diagnosis ; diagnostic imaging ; surgery ; Adult ; Female ; Follow-Up Studies ; Fractures, Spontaneous ; diagnostic imaging ; etiology ; surgery ; Humans ; Hyperparathyroidism, Primary ; complications ; diagnosis ; surgery ; Low Back Pain ; diagnosis ; etiology ; Muscle Weakness ; diagnosis ; etiology ; Parathyroid Neoplasms ; diagnosis ; diagnostic imaging ; surgery ; Parathyroidectomy ; methods ; Pseudarthrosis ; diagnostic imaging ; etiology ; physiopathology ; Radiography ; Severity of Illness Index ; Singapore ; Treatment Outcome ; Vitamin D Deficiency ; complications ; diagnosis

PURPOSE: The purpose of this study is to investigate how respiratory muscle strength correlates to cough capacity in patients with respiratory muscle weakness. MATERIALS AND METHODS: Forty-five patients with amyotrophic lateral sclerosis (ALS), 43 with cervical spinal cord injury (SCI), and 42 with Duchenne muscular dystrophy (DMD) were recruited. Pulmonary function tests including forced vital capacity (FVC) and respiratory muscle strength (maximal expiratory pressure, MEP; maximal inspiratory pressure, MIP) were performed. The correlation between respiratory muscle strength and cough capacity was analyzed. RESULTS: In the SCI group, FVC in a supine position (2,597 +/- 648 mL) was significantly higher than FVC in a sitting position (2,304 +/- 564 mL, p < 0.01). Conversely, in the ALS group, FVC sitting (1,370 +/- 604 mL) was significantly higher than in supine (1,168 +/- 599 mL, p < 0.01). In the DMD group, there was no statistically significant difference between FVC while sitting (1,342 +/- 506 mL) and FVC while supine (1,304 +/- 500 mL). In addition, the MEP and MIP of all three groups showed a significant correlation with peak cough flow (PCF) (p < 0.01, Pearson's correlation analysis). In the SCI group, MIP was more closely correlated with PCF, while in the ALS and DMD groups, MEP was more closely correlated with PCF (p < 0.01, multiple regression analysis). CONCLUSION: To generate cough flow, inspiratory muscle strength is significantly more important for SCI patients, while expiratory muscle function is significantly more important for ALS and DMD patients.
Adult ; Amyotrophic Lateral Sclerosis/*physiopathology ; Cough/*physiopathology ; Female ; Humans ; Inspiratory Capacity ; Male ; Middle Aged ; Muscle Strength/*physiology ; Muscle Weakness/pathology/*physiopathology ; Muscular Dystrophy, Duchenne/*physiopathology ; Respiratory Muscles/pathology/*physiopathology ; Spinal Cord Injuries/*physiopathology

PURPOSE: The purpose of this study was to examine the effects of unilateral sciatic nerve injury on unaffected hindlimb muscles of rats. METHODS: Adult male Sprague-Dawley rats were assigned to one of three groups: control (C) group (n=10) that had no procedures, sham (S) group (n=10) that underwent sham left sciatic nerve transection, and sciatic nerve transection (SNT) group (n=9) that underwent left sciatic nerve transection. At 15 days rats were anesthetized, and the soleus, plantaris and gastrocnemius muscles were dissected. RESULTS: Muscle weight of the unaffected plantaris muscle in the SNT group was significantly lower than in the other two groups. Type II fiber cross-sectional areas of the unaffected plantaris and gastrocnemius muscles in the SNT group were significantly smaller than in the other two groups. The decrease of muscle weights and Type I, II fiber cross-sectional areas of the unaffected three muscles in the SNT group were significantly less than that of the affected three muscles. CONCLUSION: Hindlimb muscle atrophy occurs in the unaffected side after unilateral sciatic nerve injury, with changes in the plantaris and gastrocnemius muscle being more apparent than changes in the soleus muscle. These results have implications for nursing care, in the need to assess degree of muscle atrophy in unaffected muscles as well as affected muscles.
Animals ; Body Weight ; Eating ; Hindlimb ; Male ; Muscle Fibers, Skeletal/*physiology ; Muscle Weakness ; Muscular Atrophy/*etiology/physiopathology ; Rats ; Rats, Sprague-Dawley ; Sciatic Nerve/*injuries/physiology

Lower Extremities Committee of Korean Academy of Medical Sciences Guideline for Impairment Rating develops new guidelines which are based on McBride method, American Medical Association Guides, Disability evaluation by The Korean Orthopaedic Association, The Korean Neurosurgery Society, and Korean Academy of Rehabilitation Medicine. The committee analyzed and discussed to create an ideal method practical in Korea. Our committee endeavors to develop new methods which are easy to use, but are suitable for professional use and also independent from the examinee's intentions. The lower extremities are evaluated on the basis of anatomic change, functional change, and diagnosis based evaluation. Nine methods are used to assess the lower extremities. Anatomic assessment includes leg length discrepancy, ankylosis, amputation, skin loss, peripheral nerve injury, and vascular disease. In functional assessment, range of motion and muscle strength are included. Diagnosis-based assessments are used to evaluate impairment caused by specific fractures, deformities, ligament instability, meniscectomies, post-traumatic arthritis, fusion of the foot, and lower extremity joint replacements.
Ankylosis/classification/physiopathology ; *Disability Evaluation ; Humans ; Korea ; Lower Extremity/pathology/*physiopathology ; Muscle Weakness/classification/physiopathology ; Program Development ; Severity of Illness Index

This article summarizes relevant clinical studies on muscle status and osteoarthritis. Evidence from many researches have implied the importance of muscle weakness, decreased muscle strength and muscle function as pathological factor in the process of osteoarthritis, and muscle should also be an effective target for the treatment of osteoarthritis. Further study need to be conducted from the angle of muscle to explore the mechanism of osteoarthritis and to develop new drugs.
Humans ; Muscle Strength ; Muscle Weakness ; complications ; Muscle, Skeletal ; physiopathology ; Osteoarthritis ; etiology ; physiopathology

OBJECTIVETo study the neuromuscular function and its relation with the occurrence of myasthenia in rats poisoned by dimethoate (D), phoxim (P), methomyl (M), M + D and M + P respectively.

METHODSThe stimulation single fiber electromyography(SSFEMG) at different stimulus frequencies(5, 10 and 20 Hz) was used. The whole blood cholinesterase (ChE) activity was measured 1 h before and after poisoning.

RESULTS(1) Myasthenia occurred in 5 out of 9.5 out of 10.5 out of 5, and 8 rats poisoned by D, P, M + D, and M + P, respectively. (2) The average mean consecutive differences(MCD) at 5, 10, and 20 Hz in myasthenic rats were significantly higher than those of poisoned rats without myasthenia and the control ones. (3) SSFEMG changes at 5, 10 and 20 Hz were significantly consistent with the clinical manifestation of myasthenia, especially at 10 Hz and 20 Hz. (4) ChE activity was significantly lower in rats with P or D poisoning while ChE inhibition was of no difference in rats with M, M + D, and M + P poisoning. In the D poisoning and P poisoning groups, there was no significant difference in ChE inhibition between the rats with and without myasthenia.

CONCLUSIONMuscle weakness was associated with neuromuscular transmission dysfunction, but not well correlated with ChE inhibition. The SSFEMG with stimulus frequency at 10 Hz or 20 Hz could be used to detect the neuromuscular dysfunction during myasthenia induced by organophosphate insecticides and their mixtures poisoning.

Animals ; Cholinesterase Inhibitors ; poisoning ; Dimethoate ; poisoning ; Electromyography ; Insecticides ; poisoning ; Methomyl ; poisoning ; Muscle Weakness ; chemically induced ; Myasthenia Gravis ; chemically induced ; physiopathology ; Neuromuscular Junction ; drug effects ; physiology ; Organothiophosphorus Compounds ; poisoning ; Rats ; Synaptic Transmission ; drug effects

Acute brachial neuropathy (ABN) is a rare disease, characterized by an acute or subacute onset of pain followed by weakness of shoulder or arm muscles without trauma or traction injury. So the diagnosis of this clinical entity is not easy. The purpose of this study was to analyze retrospectively the ABN in 14 cases focusing on the clinical profile and to evaluate the effectiveness of electrophysiologic study in diagnosis of ABN with a new result helpful in localizing a brachial plexus disorder. The most helpful electrophysiologic data of ABN in my patients seemed to be abnormalities of low amplitude, abnormal right to left difference of compound motor action potentials (CMAPs) and sensory nerve action potentials (SNAPs) in axillary nerve, ulnar or median nerves. Results of nerve conduction velocity, terminal and F-wave latency were not as useful. But the electromyogram was most helpful in localization of upper or lower plexus lesions and cervical radiculopathy. The most striking clinical feature of ABN was the rapid onset of pain followed by the development of muscle weakness of shoulder girdle after a variable period or within four days. In contrast to other reports, intrinsic hand muscle weakness was observed in 3 cases with sensory changes in ulnar nerve distribution. The cervical radiculopathies (C5-C7 roots) were simultaneously combined with ipsilateral axillary neuropathy in 3 cases. In this study, decreased amplitude, abnormal right to left difference of SNAPs and CMAPs, and neurogenic EMG findings with normal data of NCV, terminal and F-wave latencies suggest that the pathology of ABN might not be a demyelinating process, but axonopathy.
Adult ; Aged ; Brachial Plexus Neuritis/complications/diagnosis/*physiopathology ; Electromyography ; Electrophysiology ; Evoked Potentials ; Female ; Human ; Male ; Middle Age ; Muscle Weakness/etiology ; *Neural Conduction ; Prognosis ; Retrospective Studies ; Sensation Disorders/etiology ; Skin Temperature ; Ulnar Nerve/physiopathology