ObjectiveTo investigate the clinical and pathological characteristics of dermatomyositis with muscular perifascicular atrophy (PFA).MethodsA series of 104 consecutive patients clinically and pathologically diagnosed as dermatomyositis by muscle biopsy in our laboratory from December,2003 to August,2011,were enrolled in this study. Muscle biopsy of all the enrolled patients had shown PFA of muscle fibers.ResultsAmong the 104 patients,34 were males and 70 were females with a mean age of 45 years old.Among them,8 cases had normal electromyogram;42 had normal serum creatine kinase level;11 were diagnosed as carcinoma;75 were found to be combined with interstitial lung disease (ILD).Based on morphologic changes of muscle biopsy,they were divided into pure PFA group with 54 cases and PFA plus focal damage group with 50 cases.Compared with the pure PFA group,there was prominent mononuclear cell infiltration into perimysial intermediate sized vessels and membrane attack complement (MAC) deposition in the intramuscular capillaries in the PFA plus group.Skin biopsy had been taken in 12 cases together with muscle biopsy and had shown the border effectof both PFA and interface dermatitis in muscle and skin.ConclusionsOur study suggests that chronic immune vascular damage and insufficiency in dermatomyositis may cause ischemia and focal myofiber damage in watershed regions. The incidence of ILD in our dermatomyositis patients with PFA is high.

Objective To describe the clinical and muscle pathological characters of juvenile myositis patients with perifascicular atrophy (PFA).Methods A series of 21 consecutive muscle biopsies with clinically and pathologically confirmed juvenile myositis were studied.All biopsies had PFA of muscle fibers.Results Clinical manifestation:11/21 had typical dermatomyositis rash,9/21 possible dermatomyositis because of atypical rash,1/21 mixed connective tissue disease;9/21 had weakness complaint;9/21with normal creatine kinase (CK) level,4/21 low grade rise,8/21 apparently elevated,10/ 11 definite dermatomyositis patients with normal or low grade level;6/21 combined with interstitial lung disease,2 with EB virus infection,1 with cytomegalo virus infection.Muscle pathology:4 specimens with atypical PFA also had enzyme abnormality in nicotinamide adenine dinucleotide,succinate dehydrogenase and cytochrome c oxidase staining,9/12 cases had membrane attack complement deposition intramuscular capillaries,and they had prominent regional mitochondrial abnormalities,protrude PFA and focal muscle damage.Skin biopsy of one case showed perivasculitis in dermis.Conclusions PFA could be seen in juvenile dermatomyositis and mixed connective tissue disease,and PFA could not increase the CK level.The capillary and intermediate-sized vessels damage may cause chronic ischemia,which could explain the PFA with mitochondrial abnormalities.

Objective To compare the difference of impact on the cellular immunity between laparoscopic and transabdominal radical hysterectomy. Methods 60 patients with early cervical cancer (Ⅰa2~Ⅱa1), half of them were assigned to do abdominal radical hysterectomy (ARH) and the other half for laparoscopic radical hysterectomy (LRH). Adopt flow cytometry (FCM) detect peripheral blood T lymphocyte subsets, NK cells, CIK cells and T lymphocyte ac-tivation function on one day before surgery, one day, five days, and 28 days after the surgery separately. Compare the changes of immune status. Results After one day, the number of T lymphocyte subsets declined compared with preoperative one day(P <0.05). After five days, each index in LRH group was increased compared with postoperative one day, and the degree of decline is less than the ARH group ( P< 0.05), and recovered faster. After one day, the number of HLA-DR+CD3+in LRH group compared with the preoperative one day declined and HLA-DR+CD8+in-creased, and the degree of change is less than the ARH group, and recovered faster. Conclusions Immune function in patients after laparoscopic group was less changed, and recovered quickly, while the immune function were less inhibited, it may protect patients' immune function better.

OBJECTIVE:To establish the quality standard for Compound huaihua granules.METHODS:Sophora japonica,salvia miltiorrhiza,and Lonicera joponica in the formulation were identified qualitatively by TLC,and the content of rutin in Sophora japonica was determined by UV spectrophotometry.RESULTS: The TLC spots were clear and well-separated.The linear range of rutin was 2.904～14.52 ?g?mL-1(r=0.997 7) and its average recovery was 98.43%(RSD=0.55%,n=6).CONCLUSION: The established standard is suitable for the quality control of Compound huaihua granules.

Objective To study the frequency and correlate factors of lipid accumulation in muscle fibers in inflammatory myopathies Methods Muscle biopsy specimens were routinely processed for histopathological and histochemical studies Excepting inflammatory changes, lipid droplets were observed by ORO staining According to the amount of lipid droplets in the muscle fibers, these cases were separated into two groups, and then the differences in muscle power, serum CK level, morphologic changes of muscle, courses and corticosteroids administration between two groups were compared Results 37 7% specimens showed lipid accumulation in muscle fibers distinctly As compare with the lipid normal group, in the lipid increasing group, the generalized muscle fiber degenerating were more common and muscle weakness were more prominent Although more patients have long term therapy with steroid in lipid increasing group, there were no significant differences between these two groups Conclusions Lipid accumulation in muscle fibers was present in some patients with inflammatory myopathies Increasing of lipid droplets might result from the muscle fiber degenerating and might turn to impair the muscle function reversely

Objective To summarize the clinical and pathological features of glycogen storage disease (GSD) type Ⅱ. Methods The clinical and pathological data of the 20 GSD type Ⅱ patients were reviewed. Results One patient with infantile-onset mainly presented hypotonia, muscle weakness, feeding difficulties, pulmonary infection and cardiomyopathy insufficiency and increase of serum creatine kinase (778 IU/L) and echographic evidence of hypertrophic cardiomyopathy were detected. Electromyography studies indicated a definite myopathy. Nineteen cases were late-onset, presenting a slowly progressive proximal myopathy with truncal involvement or with symptoms dominated by respiratory insufficiency. Not all muscles were equally affected. Increase of serum creatine kinase (208-2600 IU/L) was detected in 14 patients and normal level in 1 patient. Electromyography studies indicated a definite myopathy in 9 patients,with abnormal irritability in 1 patient and susceptible in 4 patients and myotonic discharge in 1 patient and no abnormalities in 2 patients. Echographic evidence of thickening of the interventricular septum and pulmonary hypertension were detected in 2 patients respectively. The common light microscopic feature of all case was a vacuolar myopathy with high glycogen content and acid phosphatase activity in the vacuoles. Conclusions GSD type Ⅱ often presents slowly progressive myopathy which often affect the toro and respiratory muscles.In most patients the serum creatine kinase level is elevated slightly. Muscle biopsy is of use to make the definite diagnosis of this disease.

Objective The clinical,laboratory,and neuroradiologic features of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) were analyzed and early clinical diagnosis was proposed.Method The various presentations of 34 MELAS patients were summarized to identify the specific symptoms and signs.The appropriate interpretation of the ancillary examinations,including lactic acid levels of blood and cerebral spinal fluid,neuroradiology,muscle biopsy and genetic test,was emphasized.the diagnostic significance and limitations of clinical,laboratory and neuroradiologic features were pointed out.Result The most common clinical presentations were listed in order of frequency:seizures,headache,mental decline,stroke-like episode,development abnormality,muscle weakness,fatigue,and ophthalmoplegia.Raised fasting or post-exercise blood lactic acid levels were found in 23 patients (67.6%).The most common lesions were located in the occipital lobe,parietal lobe,temporal lobe,basal ganglion,frontal lobe,cerebellum and deep white matter of 32 patients.Ragged red fibers were found in 24 patients (75%),and 8 other patients had negative muscle biopsy.Fourteen patients underwent genetic test,of which 9 patients had point mutation at 3243.Conclusion It is feasible to have early recognition of the various presentations of MELAS and make an early diagnosis even before the stroke like episodes.

Objective To investigate the value of the cerebrospinal fluid ( CSF ) cytology in diagnosis of intracranial germinomas by reviewing the outcomes of CSF cytology of 8 patients with intracranial germinomas. Methods Eight patients with positive CSF cytology at our clinic from January 2006 to June 2009 were reviewed. Conventional cytology and immunocytochemistry of CSF were performed. The relevant literature on the subject was reviewed. Results The patients, including 7 male and 1 female, developed endocrinological or neurological symptoms at the age of 13 to 25, and the typical neurological presentation included vertigo, headache, mental and behavior disorders, double vision and weakness of legs. The CSF cell count ranged from 0 to 300 leukocytes per cubic and elevated in 7 cases, typically lymphocytic inflammation. CSF level of human chorionic gonadotropin was 3.2-1087.0 mIU/ml, higher than the individual serum level. On CSF cytology studies, typical tumor cells of germinima were found, which had positive particles in cytoplasm on periodic acid Schiff stain. All presents had lymphocyte inflammation ( small lymphocyte predominant ). On immunocytochemical studies of CSF, the tumor cells were positive on placental alkaline phosphatase and Ki-67 stains. Conclusions CSF cytology is clinically useful for diagnosis of primary intracranial germinoma. Further clinical and cytological studies will be necessary for a better understanding of the biology of these tumors.

Objective To summarize the clinical presentations, the findings of lab tests and procedures and the genetic investigation of collagen type Ⅵ related myopathy, and to help clinicians recognize and diagnose this rare disease.Methods Seven familiar or spontaneous collagen type Ⅵ related myopathy patients diagnosed by gene detection were analyzed.We emphasized on the features of clinical manifestations, serum creatine kinase level, electromyography, lower-limb muscle MRI, muscle biopsy and correlation between genotype and pZenotype.Results Among 7 patients, 3 were caused by COL6A1 mutation, 1 was caused by COL6A2 mutation and 3 were caused by COL6A3 mutation.Two patients were familiar wZile 5 were spontaneous.HigZligZted clinical presentations were proximal weakness in lower limbs and joint contrature.Serum creatine kinase level was sligZtly elevated.ElectromyograpZy sZowed sligZt myogenic damage.Muscle MRI of tZigZ sZowed distinct pattern of muscle involvement.Muscle patZology revealed dystropZic myogenic cZanges with proliferation of connective tissue between muscle fibers.Conclusions Neurologists should recognize the features of collagen type Ⅵ related myopathy, such as progressive weakness, early-onset joint contraetures, slightly elevated serum creatine kinase and selective muscle involvement on leg MRI scan, and then perform next-generation sequencing based genetic test on suspected patients.This approach would improve the diagnostic rate of the disease.

ObjectiveIn an attempt to clarify the usefulness of combined nerve and muscle biopsy in the diagnosis of neuromuscular disease when compared with traditional sural nerve biopsy.Methods Fifteen biopsies of superficial peroneal nerve (SPN) and peroneus brevis muscle ( PBM ) by one incision performed within one neurological clinic were reviewed.All patients had peripheral neuropathy while 3 of them had myopathy clinically.The diagnostic significance of SPN and PBM biopsies were classified into 3 grade: essential,helpful,no value.ResultsOf 15 SPN and PBM biopsies,7 showed essential pathological findings whichreachedthe etiologicaldiagnosis, including 5definitevasculitis, 1inflammatory demyelinating polyneuropathy and 1 amyloid neuropathy.Five biopsies are helpful for etiological diagnosis,including demyelinating neuropathy,mild inflammation,and microvascular lesion,et al.Three biopsies are of no value for etiological diagnosis which only have nonspecific change such as type 2 fiber atrophy,neurogenic atrophy and axonal degeneration et al. Finally,SPN and PBM biopsies made the definite etiological diagnosis possible in 12 patients.ConclusionsSPN and PBM biopsy improved the yield of specific pathological and etiological diagnosis of neuropathy and myopathy such as vasculitis and amyloidosis with minor trauma and side effect.Further clinical and pathological studies will be necessary for a better practice of combined nerve and muscle biopsy.