OBJECTIVE: Based on the PTEN-induced hypothetical kinase 1 (PINK1)/Parkin pathway, the effect of acupuncture pretreatment on the expression of mitochondrial autophagy-related proteins in gastrocnemius muscle tissue of rats with exercise-induced muscle damage (EIMD) was observed, and the underlying mechanism of acupuncture pretreatment for the prevention and treatment of EIMD was explored. METHODS: Of 88 SD male rats, aged 6 weeks, 8 rats were randomly selected as a blank group, and the remaining 80 rats were randomized into a model group and an acupuncture pretreatment group, with 40 rats in each group. Either the model group or the acupuncture pretreatment group was subdivided randomly into 5 subgroups with 8 rats in each one according to the time points of sample collection, 0 h, 12 h, 24 h, 48 h and 72 h after modeling. An intermittent downhill running centrifugal exercise was carried out on an animal experimental treadmill to establish the EIMD model in the model group and the acupuncture pretreatment group. The rats in the acupuncture pretreatment group received acupuncture at "Guanyuan" (CV6) and bilateral "Zusanli" (ST36), once a day for 20 min each time, for 7 consecutive days before EIMD model preparation. Transmission electron microscopy was used to observe the ultrastructure of gastrocnemius muscle tissue in each group. The contents of malondialdehyde (MDA), superoxide dismutase (SOD) and catalase (CAT) in serum were detected by ELISA. Western blot was used to detect the protein expression of PINK1, Parkin, sequestosome 1 (p62) and microtubule-associated protein light chain 3B (LC3B) in rat gastrocnemius muscle tissue. Real-time PCR was adopted to detect the mRNA expression of PINK1, Parkin, p62 and LC3B in rat gastrocnemius muscle tissue. RESULTS: Compared with the blank group, the mitochondria of gastrocnemius muscles showed obvious swelling in the 0 h, 12 h, 24 h, and 48 h model subgroups , autophagosomes were formed in the 12 h and 24 h model subgroups, and the mitochondrial morphology returned to normal gradually in the 72 h model subgroup. The serum MDA contents of rats in 5 model subgroups increased (P<0.01, P<0.05). The contents of SOD and CAT in the subgroups of 0 h, 12 h, 24 h and 48 h decreased (P<0.05, P<0.01). The protein and mRNA expression levels of PINK1, Parkin and LC3B in gastrocnemius muscle tissue of rats in 0 h, 12 h and 24 h subgroups were elevated (P<0.01); and the protein and mRNA expression levels of p62 in the 0 h, 12 h, 24 h and 48 h subgroups were reduced (P<0.01, P<0.05). Compared with the model subgroup at the same time point, the myofibril damage and the degree of mitochondrial swelling were mild in each acupuncture pretreatment subgroup, and the numbers of autophagosomes were fewer. The contents of MDA in the acupuncture pretreatment subgroups decreased at 0 h, 12 h, 24 h, and 48 h (P<0.05, P<0.01). The contents of SOD and CAT in the 12 h acupuncture pretreatment subgroup increased (P<0.05, P<0.01). The protein and mRNA expression levels of PINK1 and Parkin in the 0 h, 12 h, and 24 h acupuncture pretreatment subgroups decreased (P<0.01, P<0.05). The protein and mRNA expression levels of LC3B in the 12 h acupuncture pretreatment subgroup decreased (P<0.01), and that of p62 in the 0 h and 24 h acupuncture pretreatment subgroups increased (P<0.01, P<0.05). CONCLUSION The intermittent downhill running centrifugal exercise induces the excessive mitochondrial autophagy. Acupuncture pretreatment may attenuate EIMD, and the underlying mechanism is related to the regulation of PINK1/Parkin signaling pathway expression, reducing oxidative stress damage in skeletal muscle cells, and inhibiting mitochondrial autophagy overactivation.
Animals ; Ubiquitin-Protein Ligases/genetics* ; Male ; Rats ; Acupuncture Therapy ; Protein Kinases/genetics* ; Rats, Sprague-Dawley ; Mitophagy ; Humans ; Muscle, Skeletal/metabolism* ; Physical Conditioning, Animal ; Muscular Diseases/physiopathology* ; Signal Transduction

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

OBJECTIVETo observe the intervention effect of electroacupuncture (EA) at "Weizhong" (BL 40) on rats with bupivacaine-induced multifidus muscle injury, so as to explore the action mechanism.

METHODSA total of 72 rats were randomly divided into a control group, a model group, a Weizhong group and a Shenshu group, 18 rats in each group. Each group was again randomly divided into a 4-day subgroup, a 7-day subgroup and a 14-day subgroup, 6 rats in each subgroup. Rats in the model group, Weizhong group and Shenshu group were treated with intramuscular injection of 0.5% bupivacaine (BPVC) to establish the model of multifidus muscle injury. Rats in the Weizhong group and Shenshu group were treated with EA at "Weizhong" (BL 40) and "Shenshu" (BL 23), 20 min per treatment, once a day. Each subgroup was treated for 4 days, 7 days and 14 days respectively. Rats in the control group and model group were treated with immobilization. The morphology and cross sectional area (CSA) changes of multifidus with HE and Masson staining at different time points were observed; the expression of insulin like growth factor 1 (IGF-1) and myogenic differentiation antigen (MyoD) was measured by immunohistochemical method.

RESULTSAfter the modeling, there were significant morphology changes of multifidus at different time points, which was not fully recovered after 14 days. The morphological observation in the Weizhong group and Shenshu group was superior to that in the model group. At 7th day, the CSA in the Weizhong group was higher than that in the model group (P < 0.05); at 14th day, the CSA in the Weizhong group and Shenshu group was higher than that in the model group (P < 0.01, P < 0.05). At 4th day and 7th day, the expression of IGF-1 in the model group was higher than that in the control group (both P < 0.01); at 4th day, that in the Weizhong group was higher than that in the model group (P < 0.01), and that in the Weizhong group was higher than that in the Shenshu group (P < 0.05), and that in the Shenshu group was as higher than that in the model group (P < 0.05); at 14th day, that in the Shenshu group was higher than that in the model and Weizhong group (P < 0.01). At 4th day, the expression of MyoD in the Weizhong group and Shenshu group was higher than that in the model group (P < 0.01), which was more significant in the Weizhong group (P < 0.01).

CONCLUSIONElectroacupuncture at "Weizhong" (BL 40) and "Shenshu" (BL 23) can both promote the regeneration of multifidus muscle injury. EA at "Weizhong" (BL 40) has a better effect at early phase, which may be related to the up-regulation of IGF-1 and MyoD and the completion of the proliferation of myoblast in advance.

Acupuncture Points ; Anesthetics, Local ; adverse effects ; Animals ; Bupivacaine ; adverse effects ; Electroacupuncture ; Humans ; Male ; Muscles ; injuries ; physiopathology ; Muscular Diseases ; chemically induced ; physiopathology ; therapy ; Rats ; Rats, Sprague-Dawley ; Regeneration

Acupuncture Points ; Acupuncture Therapy ; Female ; Humans ; Middle Aged ; Muscle Contraction ; Muscle, Skeletal ; physiopathology ; Muscular Diseases ; physiopathology ; therapy

Adult ; Back Muscles ; physiopathology ; Fasciitis ; physiopathology ; therapy ; Female ; Humans ; Male ; Moxibustion ; Muscular Diseases ; physiopathology ; therapy

OBJECTIVETo analyze the clinical characteristics and effects of rehabilitation treatment on hemophiliacs with iliopsoas hemorrage.

METHODSThe hemophilia patients with iliopsoas bleeding treated in Peking Union Medical College Hospital between January 2006 to December 2010 were enrolled. The clinical characteristics including symptoms, signs, complications, and rehabilitation treatment were analyzed retrospectively.

RESULTSAll of the forty-one hemophiliacs with iliopsoas bleeding were male, 20 cases wee the left bleeding, 18 the right, and 3 the bilateral. The median median age was 18 (6 - 61) years old(y). The median age of the iliopsoas bleeding for the first time was 17 (6 - 20) y. 34 patients accompanied with femoral nerve injury, 19 of them had secondary knee bleeding on the same side. 20 patents had quadriceps atrophy. Pelvic pseudotumor developed in 2 patients and permanent abnormal posture in 2 patients. The main finding of the ultrasound image was low-echo mass in iliopsoas muscles or inguinal region. 34 patients received rehabilitation therapy for 8 - 12 weeks under the support of factor replacement, complete hematomas absorption in 33 of them, with hip range of motion recovering back to baseline. 27 of 32 (84.4%) cases with femoral nerve injury got quadriceps strength above 4/5 grade, 20 cases of femoral nerve injury (62.5%) still had numbness on front of their thigh after treatment.

CONCLUSIONSIn this cohort of iliopsoas bleeding, most of the patients are adolescent. High prevalence of the femoral nerve injury and the secondary knee bleeding are found. Rehabilitation treatment under the support of factor replacement is safe and effective on hematoma absorption and neurological function recovery.

Adolescent ; Adult ; Child ; Hematoma ; etiology ; rehabilitation ; Hemophilia A ; complications ; rehabilitation ; Hemorrhage ; etiology ; rehabilitation ; Humans ; Male ; Middle Aged ; Muscular Diseases ; diagnosis ; etiology ; rehabilitation ; Psoas Muscles ; physiopathology ; Retrospective Studies ; Young Adult

Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.
Blepharoptosis/complications/*diagnosis/drug therapy ; Electromyography ; Female ; Glucocorticoids/therapeutic use ; Humans ; Hypopituitarism/complications/*diagnosis/drug therapy ; Hypothyroidism/complications ; Magnetic Resonance Imaging ; Middle Aged ; Muscular Diseases/etiology ; Neuromuscular Junction/physiopathology ; Prednisolone/therapeutic use ; Thyroxine/therapeutic use

A 51-year old man presented with vertical and torsional diplopia after reduction of a blowout fracture at another hospital one year ago. He had no anormalies of head position and 14 prism diopters (PD) right hypertropia (RHT) in the primary position. In upgaze no vertical deviation was found, and hyperdeviation on downgaze was 35PD. Bielschowsky head tilt test showed a negative response. Distinct superior oblique (SO) and inferior rectus (IR) underaction of the right eye was noted but IO overaction was mild on the ocular version test. Double Maddox rod test (DMRT) revealed 10-degree extorsion, but fundus extorsion was minimal in the right eye.Thin-section coronal CT scan showed that there was no fracture line on the anterior orbital floor, but a fracture remained on the posterior orbital floor. Also, the anterior part of the right inferior oblique muscle was vertically reoriented and the medial portion of the inferior oblique muscle was not traced on the coronal CT scan. The patient underwent 14 mm right IO recession and 3 mm right IR resection. One month after the surgery, his vertical and torsional diplopia were eliminated in the primary position.
Constriction, Pathologic/complications/etiology/physiopathology/radiography ; Diplopia/etiology ; Humans ; Male ; Middle Aged ; Muscular Diseases/complications/etiology/*physiopathology/*radiography ; Oculomotor Muscles/*physiopathology/*radiography/surgery ; Orbital Fractures/*complications ; *Tomography, X-Ray Computed

Androgen receptor (AR) gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat (CAG and GGN) length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.
Androgen-Insensitivity Syndrome ; genetics ; physiopathology ; Bone Diseases, Metabolic ; genetics ; physiopathology ; Breast Neoplasms ; genetics ; physiopathology ; Cognition Disorders ; genetics ; physiopathology ; Digestive System Diseases ; genetics ; physiopathology ; Female ; Genital Neoplasms, Female ; genetics ; physiopathology ; Genital Neoplasms, Male ; genetics ; physiopathology ; Humans ; Infertility, Male ; genetics ; Male ; Muscular Atrophy, Spinal ; genetics ; physiopathology ; Phenotype ; Point Mutation ; Polycystic Ovary Syndrome ; genetics ; physiopathology ; Polymorphism, Genetic ; Pre-Eclampsia ; genetics ; physiopathology ; Pregnancy ; Receptors, Androgen ; genetics ; physiology ; Schizophrenia ; genetics ; physiopathology ; Testosterone ; deficiency ; Trinucleotide Repeats

OBJECTIVETo discuss the clinical value and application range of defecography, CT and MRI in diagnosis of puborectalis syndrome (PRS).

METHODSThe clinical data of 83 PRS patients, including defecography, CT and MRI scanning in pelvic floor resting and defecation at maximum exertion, measurement of anorectal angle (ARA), length and depth of ARA impression and the thickness of the puborectalis muscle, were collected, and compared with those of 56 normal persons.

RESULTSFor normal persons, ARA at maximum exertion was more significantly increased than that at resting. In 62 cases with PRS, ARA at maximum exertion was more obviously reduced than that at resting and associated with puborectalis muscle (PRM) impression. In the other 21 cases, ARA showed no changes at either maximum exertion or resting, a little or no excretion of barium appeared and "shelving syndrome" was showed. The cross-sectional images of CT and MRI showed that the puborectalis of PRS patients were thicker than that of normal persons (P<0.01). PRS patients also showed clear pelvic floor muscle, fasciae and peripheral crevice.

CONCLUSIONSDefecography, manifested the abnormal function of the puborectalis muscles, is a reliable method for diagnosis of PRS. In the meantime, CT and MRI are able to clearly display the position, growth status and size of the puborectalis muscles as well as its relation with adjacent structures, which provide further understandings on anatomical changes, abnormal adjacent structure and other functional diseases of pelvic floor in PRS patients. Therefore, an appropriate combination of the 3 methods play an important role in the early diagnosis of PRS and guidance for surgical treatment.

Adolescent ; Adult ; Aged ; Constipation ; diagnostic imaging ; pathology ; physiopathology ; Fecal Incontinence ; Female ; Humans ; Image Processing, Computer-Assisted ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Male ; Microscopy, Electron ; Middle Aged ; Muscular Diseases ; diagnostic imaging ; physiopathology ; Perineum ; Radiography ; Rectal Diseases ; diagnostic imaging ; pathology ; physiopathology ; Syndrome ; Young Adult