Objective To evaluate the role of diffusion tensor imaging(DTI)in finding brain damage,and to explore the clinical features and cognitive function changes in patients with posttraumatic epilepsy.Methods The clinical data,collected from 175 outpatients with posttraumatic epilepsy and registered from June,1999 to August,2007 in General Hospital of PLA,were summarized.All the patients were divided into lesion identifiable group and lesion obscure group according to neuro-imaging results.The cognitive function of epilepsy group consisted of 37 posttraumatic epilepsy patients were compared with that of 37 age-matched healthy people.13 patients of the epilepsy group underwent DTI examination.Results Among all patients,the frequency of simplex partial and complex partial attacks were both significantly higher than that of secondary generalized seizures(P0.05).Compared with healthy control group,the patients in epilepsy group showed significantly lower VIQ,PIQ,PIQ,digit span score and digit symbol score,and longer reflex time in Stroop test and produced significantly less words in one minute(P

Objective To investigate the relationship between positron emission tomography (PET) and cognitive dsyfunction in patients with multiple sclerosis (MS). Methods 2 cases of MS were test with the Wechsler Intelligence Scale (WIS) or mini-mental state examination(MMSE), brain MRI and PET,then the results were analysed. Results The MMSE score of the case 1 was 19, which was lower than normal. The WIS score of the case 2 was normal. The PET of 2 patients showed that there were many hypo-metablism areas in cortex or subcortex.In addition,some cortical hypo-metablism areas of PET were not correspondingly found lesions in cortex or subcortex by MRI. Conclusions There are many hypo-metablism areas in cortex or subcortex in MS patients. The hypometablism areas may be correlated with the cognitive dysfunction of MS.

Objective To investigate the characteristics of cognitive dysfunction in patients with multiple sclerosis (MS), as well as the correlations between cognitive dysfunction and lesions of brain on MRI.Methods 70 patients with MS were tested with Wechsler Intelligence Scale and brain MRI.A multiple-regression analysis was carried out on the basis of related factors.Results The rate of the patients whose full intelligence quotient(FIQ) less than 90 scores was 40%(28/70), which was higher than that of normal group( P

ObjectiveTo investigate the clinical,myopathological and molecular changes in two Chinese families with oculopharyngodistal myopathy ( OPDM).MethodsWe performed muscle biopsy and histopathologic study on the probands of two families,and further examined molecular genetic testing on PABPN1 and GNE gene. Results Family 1 included 3 affected brothers in the same generation and family 2 involved 4 patients in 2 generations. Dysarthria rather than external ophthalmoplegia was the prominent oculopharyngeal symptoms for Chinese patients. No intranuclear inclusions were observed in ultrastructural examination.The number of GCG repeats in the PABPN1 gene was within normal range and no mutations were identified in the GNE gene.ConclusionsFamily 1 is the first publication on autosomal recessive OPDM in China.The age of onset of two families was comparable with Japanese patients and the pattern of muscle involvement was different. OPDM is a distinct phenotypical,histological,and genetic entity.

Objective To analyze and summarize the clinical , pathological features of 16 patients with centronuclear myopathy.Methods All of the 16 patients performed clinical examination and sporadic patients and a proband with family history ( n=6 ) performed serum creatine kinase , electromyography and open muscle biopsies , and the specimens were used for a standard series of histological and histochemical stainings.The clinical and pathological features of these patients were analyzed.Results The proportion of centronuclear myopathy in suspected myopathy cases was 0.127%(6/4 724) in our department.The onset time ranged from infancy to adulthood.The common initial symptoms included mild to moderate weakness of lower limbs and bilateral ptosis ( n =4 ).The other symptoms were facial weakness ( n =1 ) and ophthalmoplegia (n=1).There were 12 patients performing distal weakness exceeding proximal weakness . One family with autosomal dominant inheritance of 11 patients had a later age of onset than the sporadic ones and manifested bilateral ptosis , bilateral lower limbs weakness , especially in distal muscle.Muscle biopsies showed pronouncedly increased amount of fibers with centrally placed nuclei with predominant type Ⅰfibers and a clear perinuclear halo surrounding the centrally placed nuclei and an appearance of spoke of a wheel in some fibers.Conclusions This series of centronuclear myopathy patients manifest clinical heterogeneity.Muscle biopsies show features of centralized nuclei pronounced increase , type Ⅰfibers predominance , etc.These can provide evidences for the diagnosis of the disease.

Objective To explore the expression of myostatin mRNA,a negative regulator of muscle growth,in the skeletal muscle of Duchenne muscular dystrophy(DMD)patients.Methods A semi-quantitative reverse transcription polymerase chain reaction was performed to evaluate the expression of myostatin in the skeletal muscle of 7 DMD patients and 4 healthy controls.Results The level of myostatin gene expression in the skeletal muscle of DMD patients was higher than that of healthy controls(0.56 ± 0.16 vs 0.34 ± 0.15,Z =-2.268,P =0.023).Conclusions The myostatin gene expression was increased in the DMD patients compared to the healthy controls.Enhanced expression of myostatin in the skeletal muscle might be involved in the pathogenesis of DMD.

Objective To investigate the clinicopathological features of tubular aggregate myopathy.Methods Eight patients as experimental group were diagnosed with tubular aggregate myopathy in Department of Neurology,People' s Liberation Army General Hospital,between March 2000 and March 2013.The data were retrospectively analyzed.Enzyme histochemical techniques and electron microscopy were taken to observe the muscle structures.Results The detection rate of tubular aggregate was 0.374％ (8/2 137).All of the 8 patients with tubular aggregate myopathy were male.Five patients presented with episodes of muscle weakness,while 3 patients presented chronic progressive muscle weakness.The main clinical features of all patients were muscle weakness.The creatine kinase level was mildly elevated in 4 patients,while it was normal in the other 4 patients.Electromyogram showed myogenic damage in 5 patients and normal in 3 patients.All of the 8 patients denied family history.By light microscopy,hematoxylin-eosin staining showed that tubular aggregates were multiple basophilic subsarcolemmal substance.Tubular aggregate stained red with modified Gomori trichrome stain,reacted intensely for nicotinamide adenine dinucleotidetetrazolium reductase,and remained unstained on oil red O,periodic acid Schiff,sudan black B,acid phosphatas,adenosine triphosphatase.By electron microscopy,tubular aggregates were densely packed tubules predominantly in the subsarcolemmal region.Conclusion Enzyme histochemical staining and electron microscopy show special features of tubular aggregate myopathy,are the critical techniques for the diagnosis of the disease.

This study was aimed to evaluate the feasibility of wind-warm lung-heat disease (non-severe community-acquired pneumonia, CAP) from the clinical curative effect, hospitalization days, medical expenses and other aspects. This study selected 198 wind-warm lung-heat disease (non-severe CAP) inpatients from January, 2012 to December, 2012 with the conventional therapy in the Respiratory Department, Wuhan Integrated Traditional Chinese Medicine (TCM) & Western Medicine Hospital as the control group. And another 179 wind-warm lung-heat disease (non-severe CAP) inpatients were selected from January, 2013 to December, 2013 with the TCM clinical pathway treatment in the Respiratory Department of the same hospital as the treatment group. Retrospective analysis was used to compare the clinical curative effects, hospitalization days, and medical cost differences. The results showed that TCM clinical pathway for wind-warm lung-heat disease (non-severe CAP) can shorten the hospitalization days and reduce patients’ medical costs, and ensure the clinical curative effects. It was concluded that the standardized TCM clinical pathway had positive effect on wind-warm lung-heat disease (non-severe CAP). Therefore, the formulation and implementation of TCM clinical pathway was of great significance in the treatment of wind-warm lung-heat disease (non-severe CAP).

Objective To study the clinical and pathological features of nemaline myopathy(NM) in 12 cases.Methods Clinical manifestations and pathological features of muscle-biopsy specimens were summarized and analyzed retrospectively in 12 NM cases.Results In 12 cases,7 patients with typical congenital type exhibited lower or four limbs weakness as the first symptom and benign course.Three patients with childhood onset type exhibited lower limbs weakness and progressive course,and this type of patient might have muscle atrophy.Two patients with adult onset type exhibited four limbs and throat muscle weakness,rapidly progressive course and obvious muscle atrophy,and one patient had already shown acute respiratory failure.High arched feet and elongated face were observed.Creatin kinase value in all patients was normal or mildly elevated,and all electromyography showed myogenic changes.In light microscopy,the nemaline bodies were observed in more than half muscle fibers,especially in type 1 fibers.All patients showed type 1 predominance and atrophy.Modified Gomori trichrome stains showed characteristic purplecolored rods.Muscle electron microscopy showed high electron dense nemaline bodies around nucleus and disorganized myofibrillar apparatus such as broken myofilaments,irregular myofibril and Z lines.Nemaline bodies under electron microscopy may be part of myofibril or high electron-dense bodies with no structure.Conclusions The 12 patients in this study with NM are divided into 3 types,of which adult onset type is the most severe one.The key diagnosis is based on the appearance of nemaline bodies in more than half of the muscle fibers and the muscle electron microscopy observation.

Objective The 3243A ＞ G mutation in mitochondrial DNA is a common cause of the classical mitochondrial diseases characterized by neuro-muscular disorders.This study reports a rare case with the main manifestations of mitochondrial disease in children of mitochondrial cardiomyopathy and respiratory muscle damage.Methods The clinical characteristics,diagnosis and treatment,biochemical,pathological and genetic features of a 10-year-old girl were studied.Results The girl was admitted because of heart failure and respiratory failure at the age of 10.Ragged red fibers in skeletal muscles had been noticed.On her mitochondrial gene,3243A ＞ G mutation,Leu tRNA (UUR),was detected.The mutation rate in the peripheral blood cells was 94％.After the treatment with a high dose of creatine phosphate sodium,coenzyme Q10 and L-carnitine with assisted ventilation,the patient improved rapidly.The child was followed up for 2 years without recurrence.Meanwhile the growth,development and daily life were normal.Conclusions Cardiac and respiratory muscle impairments that appeared at the same time as the first manifestations of the children's mitochondrial disease is not common,and it is rare to have cardiomyopathy based mitochondrial gene 3243A ＞ G mutation is seldom seen clinically.Skeletal muscle biopsy and genetic test is the key for accurate diagnosis.Improving mitochondrial metabolism and assisted ventilation appear to be helpful treatments.