Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases* ; Mutation, Missense* ; Myofibrils ; Pathology ; Respiratory Insufficiency ; Sarcolemma ; Tropomyosin

Although light microscopic features of muscle are not pathognomonic in most cases of myasthenia gravis (MG), careful examination of neuromuscular junction by electron microscopy (EM) can reveal important clues for this disease. We report here a case of MG confirmed by EM study to emphasize that tissue diagnosis is still the best adjuvant to confirm the diagnosis. An 18-year-old female visited our hospital complaining of progressive muscle weakness for 3 years. She had difficulty in running, going upstairs and doing routine activities. Symptoms were aggravated with continuous work and resolved after rest. She had weakness of bilateral masseter and facial muscles and proximal portions of extremities without definite diurnal variation. Electromyography showed myopathic changes in proximal muscles of extremities. MG was considered but tensilon test was equivocal. Repetitive nerve stimulation tests revealed 20-30 percent decrease in responses to low and high rate stimulation. Muscle biopsy revealed selective type 2 atrophy. Ultrastructurally, abnormalities of neuromuscular junctions, i.e., wide primary synaptic cleft, and wide and shallow secondary synaptic clefts with mild myopathic features were present. These findings were pathognomonic for MG. Later, her symptoms were improved completely 3 months after thymectomy. The histologic finding of thymus was follicular hyperplasia.
Adolescence ; Biopsy ; Case Report ; Female ; Human ; Microscopy, Electron ; Mitochondria/ultrastructure ; Mitochondria/pathology ; Muscle, Skeletal/ultrastructure ; Muscle, Skeletal/pathology ; Muscle, Skeletal/enzymology ; Myasthenia Gravis/pathology* ; Myofibrils/ultrastructure ; Myofibrils/pathology ; Myosin ATPase/analysis ; Neuromuscular Junction/ultrastructure* ; Neuromuscular Junction/pathology*

Although light microscopic features of muscle are not pathognomonic in most cases of myasthenia gravis (MG), careful examination of neuromuscular junction by electron microscopy (EM) can reveal important clues for this disease. We report here a case of MG confirmed by EM study to emphasize that tissue diagnosis is still the best adjuvant to confirm the diagnosis. An 18-year-old female visited our hospital complaining of progressive muscle weakness for 3 years. She had difficulty in running, going upstairs and doing routine activities. Symptoms were aggravated with continuous work and resolved after rest. She had weakness of bilateral masseter and facial muscles and proximal portions of extremities without definite diurnal variation. Electromyography showed myopathic changes in proximal muscles of extremities. MG was considered but tensilon test was equivocal. Repetitive nerve stimulation tests revealed 20-30 percent decrease in responses to low and high rate stimulation. Muscle biopsy revealed selective type 2 atrophy. Ultrastructurally, abnormalities of neuromuscular junctions, i.e., wide primary synaptic cleft, and wide and shallow secondary synaptic clefts with mild myopathic features were present. These findings were pathognomonic for MG. Later, her symptoms were improved completely 3 months after thymectomy. The histologic finding of thymus was follicular hyperplasia.
Adolescence ; Biopsy ; Case Report ; Female ; Human ; Microscopy, Electron ; Mitochondria/ultrastructure ; Mitochondria/pathology ; Muscle, Skeletal/ultrastructure ; Muscle, Skeletal/pathology ; Muscle, Skeletal/enzymology ; Myasthenia Gravis/pathology* ; Myofibrils/ultrastructure ; Myofibrils/pathology ; Myosin ATPase/analysis ; Neuromuscular Junction/ultrastructure* ; Neuromuscular Junction/pathology*

OBJECTIVE: To investigate the influence of denervation on myofiber morphology of the adductor and the abductor in patients with recurrent laryngeal nerve (RLN) paralysis and to provide experimental evidence for the clinical feasibility of RLN repair. METHOD: Adductor muscles were acquired from the lateral cricoarytenoid muscle (LCAM) and abductor muscles from the posterior cricoarytenoid muscle(PCAM). Normal human PCAM and LCAM are treated as control group (n = 7). Thirty-eight cases of PCAM with damaged RLN were divided into five groups according to the duration of their RLN damage: 0.5-1 year (7 cases), > 1-2 years (10 cases), > 2-3 years (8 cases), > 3-6 years (8 cases) and > 6 years (5 cases); twenty-nine cases of LCAM were also divided into five groups: 0.5-1 year (7 cases), > 1-2 years (6 cases); > 2-3 years (6 cases), > 3-6 years (6 cases) and > 6 years group(4 cases). They were all stained with HE and Masson three-color staining, the fiber cross-sectional area of muscle tissue and collagen connective tissue were quantitative analyzed. The changes of myofiber morphology of adductor and abductor muscles after the loss of the RLN were analyzed with image analysis system. RESULT: The transverse areas of myofibers gradually decreased and those of collagen fibers gradually increased with the prolongation of denervation. (1) Difference between the denervated groups of LCAM of 0.5-1 year, > 1-2 years and > 2-3 years groups were not significant (P > 0.05). Fiber cross-sectional area of > 3-6 years group decreased most obviously with significantly difference compared with > 2-3 years group (P < 0.05); (2) There were obvious difference between the control group, 0.5-1 year group, > 1-2 years group, > 2-3 years group and > 3-6 years of PCAM(P < 0.05); (3) There was no significant difference between the group of > 3-6 years and > 6 years of two kinds of laryngeal intrinsic muscle (P > 0.05); (4) Fiber cross-sectional area of each group of the LCAM after 1 year denervation were significantly greater than that of the PCAM under same conditions (P < 0.05). CONCLUSION The influence of denervation on myofiber morphology following denervation is different between the abductor and adductor owing to the different fiber type composition and functional properties. The rate of muscle atrophy of the adductor is slower than that of the abductor. To restore the structure and function of denervated laryngeal muscles better, the recurrent laryngeal nerve injury repair surgery for PCA muscle function recovery should be carried out within 1 year after denervation while the surgery for LCA muscle function recovery should be carried out within 3 years after denervation.
Case-Control Studies ; Denervation ; Humans ; Laryngeal Muscles ; innervation ; pathology ; Myofibrils ; pathology ; Neurosurgical Procedures ; Recurrent Laryngeal Nerve ; pathology ; Staining and Labeling ; Vocal Cord Paralysis ; pathology ; surgery

PURPOSE: The purpose of this study was to examine the effects of cerebral ischemia on Type I(soleus) and Type II(plantaris, gastrocnemius) muscles, and to determine the effects of isometric contraction training by electrostimulation on Type I andII muscles in cerebral ischemia model rats. METHOD: Twenty-five male Sprague-Dawley rats were randomly divided into four groups: ST(stroke), STES(stroke+electrostimulation), SH(sham) and SHES (sham+electrostimulation). The ST and STES groups received a transient right middle cerebral artery occlusion operation. The SH and SHES groups received a sham operation. The STES and SHES groups had daily isometric contraction training by electrostimulation(100Hz, 45mA, 7.5V) on hindlimb muscles for 7days. RESULT: Plantaris and gastrocenmius muscle weight, myofibrillar protein contents of soleus and gastrocnemius, and the muscle fiber cross-sectional area of gastrocnemius in the ST group significantly decreased compared with the SH group. Soleus, plantaris, gastrocnemius muscle weight, myofibrillar protein contents of soleus and gastrocnemius, and the Type I muscle fiber cross-sectional area of soleus and the Type II muscle fiber cross-sectional area of gastrocnemius in the STES group significantly increased compared with the ST group. CONCLUSION: Hindlimb muscle atrophy occurs after acute stroke and isometric contraction training by electrostimulation during early stages of a stroke attenuates muscle atrophy of Type I and Type II muscles.
Animals ; Body Weight ; Brain Ischemia/*complications ; Disease Models, Animal ; Electric Stimulation ; Hindlimb ; *Isometric Contraction ; Male ; Muscle Proteins/analysis ; Muscle, Skeletal/metabolism/pathology/*physiopathology ; Muscular Atrophy/*etiology/pathology/physiopathology ; Myofibrils/chemistry ; Rats ; Rats, Sprague-Dawley ; Stroke/*complications

BACKGROUND: Argyria is a rare irreversible cutaneous pigmentation disorder caused by prolonged exposure to silver. Herein, we report a case of generalized argyria that developed after chronic ingestion of soluble silver-nano particles and presented with muscle weakness. CASE PRESENTATION: A 74-year-old woman visited our emergency room, complaining of fever and mental deterioration. She was diagnosed with acute pyelonephritis and recovered after antibiotic therapy. At presentation, diffuse slate gray-bluish pigmented patches were noticed on her face and nails. Two months prior to visiting our hospital, she was diagnosed with inflammatory myopathy and given steroid therapy at another hospital. We performed a nerve conduction study that revealed polyneuropathy. In skin biopsies from pigmented areas of the forehead and nose, the histopathologic results showed brown-black granules in basement membranes of sweat gland epithelia, which are diagnostic findings of argyria. We reviewed pathology slides obtained from the left thigh muscles and found markedly degenerated myofibers with disorganization of myofibrils without inflammatory reactions, consistent with unspecified myopathy, rather than inflammatory myopathy. The patient was diagnosed with generalized argyria with polyneuropathy and myopathy and transferred to a rehabilitation institution after being tapered off of steroids. CONCLUSIONS: Clinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin pigmentation and muscle weakness.
Aged ; Argyria* ; Basement Membrane ; Biopsy ; Diagnosis, Differential ; Eating ; Emergency Service, Hospital ; Female ; Fever ; Forehead ; Humans ; Muscle Weakness* ; Muscles ; Muscular Diseases ; Myofibrils ; Myositis ; Neural Conduction ; Nose ; Pathology ; Pigmentation Disorders ; Polyneuropathies ; Pyelonephritis ; Rehabilitation ; Silver ; Skin ; Skin Pigmentation ; Steroids ; Sweat Glands ; Thigh

OBJECTIVETo investigate effects of Shenfu injection on the concentrations of plasma tumor necrosis factor-alpha (TNF-alpha) and interleukin-6 (IL-6), activity of Nuclear Factor kappa B (NF-kappaB) and heart tissue ultrastructure during myocardial ischemia/reperfusion (I/R) injury in rats and its potential mechanism.

METHODSMyocardial ischemia/reperfusion (I/R) was produced by ligation and release of the left anterior descending coronary artery. Ischemia lasted for 30 min and reperfusion for 60 min. Twenty-four healthy male SD rats weighing 230-280 g were randomly divided into three groups (n = 8, each): Group I (Sham-operation group); Group II (I/R group); Group III (Shenfu group), in which Shenfu injection (10 ml/kg) was intraperitoneally injected 30 min before ischemia in animals with I/R. The plasma concentrations of IL-6 and TNF-alpha were measured by ELISA, and the heart was harvested for determination of NF-kappaB levels by Ecl-western blot analysis. Electron microscopy was used to study its ultrastructure.

RESULTSAfter reperfusion, NF-kappaB binding activity in myocardial nuclei and the plasma concentrations of IL-6 and TNF-alpha were significantly increased in Group II, compared with Group I (P < 0.01), and they were markedly reduced in Group III, compared with Group II (P < 0.01). In addition, electron microscopic examination showed more serious injury of the myocardium ultrastructure in Group II, while in Group III the myocardial ultrastructure was similar to normal state.

CONCLUSIONSShenfu injection inhibits NF-kappaB activity in I/R myocardium and leads to down-regulation of proinflammatory cytokine expression, which might be one of the molecular mechanisms of Shenfu injection in cardioprotection.

Animals ; Drugs, Chinese Herbal ; pharmacology ; Interleukin-6 ; blood ; Male ; Myocardial Reperfusion Injury ; drug therapy ; metabolism ; pathology ; Myofibrils ; ultrastructure ; NF-kappa B ; antagonists & inhibitors ; Rats ; Rats, Sprague-Dawley ; Tumor Necrosis Factor-alpha ; analysis