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.

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 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 explore the strategy and outcomes of surgical treatment of thoracic ossification of ligamentum flavum(OLF),especially combined with ossification of posterior longitudinal ligament,thoracic kyphosis and epidural adhesion.Methods Fifty-three cases of thoracic OLF from January 2003 to December 2009 were reviewed retrospectively.All patients were treated by the methods of en bloc resection of semi-facet and lamina.All patients were followed up for more than half an year,including 32 males and 21 females,aged from 43 to 73 years(average 54.7 years).The lesions located in upper thoracic for 18 patients,and in thoracolumbar for 35 patients.For multi-level or jumping OLF patients,the responsible levels were determined by combination of images and clinical symptoms.For multi-level OLF with ossification of posterior longitudinal ligament(OPLL)or thoracic kyphosis(＞50°),multi-level pedicle screw fixation and correction of kyphosis were performed.For dural adhesion patients,part of cerebrospinal fluid was released with a caudal incision of dural sac resulting in collapse and epidural arachnoid separation.Ossific and adhesion dura mater were removed with integrity of arachnoid.The surgical outcomes were evaluated with preoperative and postoperative thoracic Japanese Orthopaedic Association(JOA)score,Nurick grade and neurologic functional recovery ratio.Results Fifty-three cases were followed up for 6 months to 6 years,with an average of 18 months.The average preoperative JOA score was 4.3±2.3,which significantly increased to 8.3±1.8 after operation.Postoperative neurologic functional recovery rates were 11% to 80%(average 65.8%),including excellent in 18 cases,good in 20,fair in 10,and poor in 5.The excellent or good rate was 71.7%.The mean preoperative Nurick grade was 3.7(2-5 grade)and decreased to 2.3 grade after operation.Conclusion En bloc resection of semi-facet and lamina is a safe and effective method for treatment of thoracic OLF.For the patients with OPLL or kyphosis,pedicle screws fixation and kyphosis correction was beneficial for recovery of neurologic function of thoracic OLF patients.

Objective To investigate the value of the immunohistochemistry and Western blot in the diagnosis of the benign muscular dystrophy with abnormal dystrophin expression.Methods The medical histories and clinical manifestations of 4 patients were collected.In addition to routine histological and histochemical studies,expression of dystrophin in muscle fibets was observed by immunohistochemical reaction(dys-N,dys-R and dys-C)and Western blot to anti-dystrophin antibody.Results Two patients had muscular weakness while another 2 patients had only muscular pain and elevated creatine kinase blood levels without muscular weakness.Histochemical stains showed atrophy,hypertrophy and fiber splitting in 2 patients,while only variation in fiber size was presented in anothor 2 patients.One patient had no reaction for dys-N,but had immunostains for dys-C and dys-R in the sarcolemma of muscle fibers.Western blot confirmed that the band of dys-C and dys-R was partly deficient,and the band of dys-N was absent compared with control.Three patients had no reaction for dys-R,but had immunostains for dys-C and dys-N.Compared with control,Western blot confirmed that the band of dys-R was absent,and the band of dys-C and dys-N were truncated.Conclusion The immunohistochemistry is stained with three anti-dystrophin antibodies to avoid diagnostic errors.Western blot is essential to further determine the type of dystrophin protein.

0. 05) . The muscular fiber density of levator ani muscles in SUI and POP groups was decreased, fibers were arranged in disorder and separated by large quantities of dense connective tissues with infiltrating inflammatory cells. The muscle fiber fascicles showed obvious grouped denervative atrophy, fiber type grouping and angular in shape. And also there was myopathic degeneration such as centrally located nuclei, peripheral phagocytosis and vacuolated necrosis. Conclusions There are both neurogenic and myopathic alterations in levator ani muscle's structure in patients with SUI and POP. The presence of both acute and chronic abnormalities indicates that the weakness of pelvic floor is a consequence of prolonged denervation.

Objective To find out a reference range of epidermal nerve fiber density in normal humans and compare the concordance between clinical features, electrophysiology and the results of skin biopsy. Methods Fifty-one patients with peripheral neuropathy and 10 normal controls were studied. Skin biopsies were obtained from distal leg and/or proximal leg and nerves identified using immunohistochemistry with antibody against protein gene product (PGP) 9. 5. Forty-one in 51 performed routine nerve conduction vdocity and electromyography, 21 in 51 performed sympathetic skin response(SSR). The concordance of the consequences was compared. Results Intraepidermal nerve fiber density (IENFD) was (21.4 + 2. 7) /mm in thigh and (15.4±2. 2) /mm in the distal part of the leg in normal controls. IENFD was (15.0± 6. 3)/mm and (8. 1±5.9) /mm in patients. The intraepidermal nerve fiber density was significantly lower in the patients than in the normal controls both in proximal (t = 2. 976, P = 0.004) and distal legs (t= 3.191, P=0.002). Forty-eight out of 51 patients showed abnormalities in skin biopsy, among which 33 patients had length-dependent neuropathy. In the group of abnormal skin biopsy, 41 received routine electrophysiology, among which 21 (51.2%) were abnormal and they were performed SSR, turning out that 17 (81.0%) were abnormal. In 29 patients who had only small fiber neuropathy, 27(93. 1%) showed abnormalities in skin biopsy, out of whom 20 were performed routine electromyography, and it identified that 6 (30. 0%) were abnormaL In 14 receiving SSR, 11 were abnormal. Conclusion Skin biopsy is safe and tolerable, which has a higher sensitivity especially in small fiber neuropathy.

Objective To study the relationship between multidrug re-sistance gene(MDR1)and cytochrome P450 2C19(CYP2C19)gene poly-morphisms and the effect of clopidogrel in patients with acute coronary syndrome ( ACS ) after undergoing percutaneous coronary intervention ( PCI ) .Methods The patients with ACS who were undergoing PCI were divided into three groups according to the result of MA ADP which tests by thromboelastogram ( TEG).Group A consists of patients with MA ADP >47, group B consists of patients with 31≤MAADP≤47 and group C con-sists of patients with MA ADP <31, respectively.The genotype of CYP2C19 is decided by gene chips hybridization and the genotype of MDR1 is decided by gene sequencing.Then the distribution of gene poly-morphism between were compared with different groups.Results There were no significantly differences among three groups in different genotype of MDR1( P>0.05 ).The proportion of patients with poor metabolism of CYP2C19 in group A was higher than the other two groups significantly ( P<0.05).Conclusion CYP2C19 gene polymorphisms affect the an-ticoagulant effect of clopidogrel.

OBJECTIVESThe investigation of the testicular volume, the penis length and the T, FSH, LH, PRL levels in serum were taken in 289 adolescent males to provide the valuable data for andrology.

METHODSThe adolescent males were grouped according to their age. The testicular volume was measured with testicular model and the T, FSH, LH, PRL levels in serum were determined by immunoenzymetric assay.

RESULTSThe male sexual development was rapid from age 11 to 16 and close to that of adult at age 18. Serum PRL of adolescent males was higher than that of adult males.

CONCLUSIONSThe age 11 to 16 is a period of rapid growth in sexual maturation. PRL may play an important role in sexual maturation.

Adolescent ; Body Height ; Body Weight ; Gonadal Steroid Hormones ; blood ; Humans ; Male ; Penis ; physiology ; Testis ; physiology

OBJECTIVE: To establish the model of skin scald in mice for the study of skin thermal injuries. METHODS: After anaesthetization mice were scalded in a 1 cm-diameter circle area on the central dorsum by boiling water at contact times: 10s or 25s. The mice were sacrificed at 1, 3, 5, 7 and 10 days after scald. The skin samples were collected and analyzed by gross and histopathological examinations. RESULTS: Deep II degree thermal injury involving full-thickness skin was observed in the 10s scald group. III degree thermal injury involving full-thickness skin and the dorsal skeletal muscle was observed in the 25 s scald group. CONCLUSION A mouse skin scald model is established which is stable and can be used on the skin thermal injury in future research.
Animals ; Burns/pathology* ; Disease Models, Animal ; Epithelium/pathology* ; Female ; Hot Temperature/adverse effects* ; Male ; Mice ; Random Allocation ; Reproducibility of Results ; Severity of Illness Index ; Skin/pathology* ; Time Factors