Objective To investigate the clinical features of the amyotrophic lateral sclerosis(ALS) which initial located in anterior horn of thoraci spinal cord.Methods The clinical data of 3 patients with ALS which initial located in anterior horn of thoraci spinal cord were analysed retrospectively.Results All of the 3 cases were male.The age of onset was 52,66 and 62 years old,respectively.They all presented as dyspnoea,with obvious atrophy in intercostal muscle and rectus abdominis.However,the muscle weakness and atrophy in the limbs were occurred slight degree and late comparativly.EMG showed the neurogenic damage in upper limbs and vertebra muslce.Conclusions The ALS which initial located in anterior horn in thoraci spinal cord is male dominant,the average age of onset is delay than that in ALS.The dyspnoea obvious.The respiratory muscle atrophy is earlier than the muscle weakness and atrophy in the limb.Definite diagnosis depende on the EMG.

Objective To investigate the clinical, imaging and pathological features of Wernicke's encephalopathy (WE).Methods The clinical, imaging and pathologic datas of 10 patients with WE were analyzed retrospectively.Results 10 patients were not ethylism. 9 cases presented various mental and conscious disturbance, 6 cases initially presented vertigo, nausea and vomiting. 5 cases showed ophthalmoparalysis. 3 cases displayed hypotension.2 cases showed ataxia and 1 case showed severe peripheral neuropathy. 3 of the 5 patients with MRI examinations showed symmetric T_1 and T_2 high signal in encephalocoele and periphery of aqueduct of midbrain, the other 2 cases were no positive finding . 4 cases with supplement VitB_1 were cured, 5 cases died.1 case withdrawed. 5 autopsy cases showed congestion, edema and multiple petechial hemorrhages in encephalocoele and periphery of aqueduct of midbrain.Conclusions The clinical manifestation of WE is atypical, and MRI imaging is helpful for early diagnosis of WE. It is the key treatment to supply the thiamine as early as possible.

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 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 To investigate the clinical and electrophysiological characteristics of cubital tunnel syndrome (CTS). Methods The clinical and electrophysiological data of 150 cases of CTS involving 173 upper limbs (UL) were collected. And the electrophysiological data of 76 healthy subjects were also collected. The data of EMG between the two groups were compared and analyzed statistically. Results Fibrillation potentials were detected in 114 and 91 UL, respectively, in abductor digiti minimi, and positive sharp waves in 50 and 48 UL, respectively, in the first dorsal interosseous muscle. The average conduction velocity of the ulnar nerve was decreased, with motor conduction velocity(MCV) from above to below elbow 34.6?9.75 m/s and sensory conduction velocity (SCV) 45.99?9.65m/s; the motor latency was prolonged and amplitude of motor action potential decreased. There was statistical difference between the patients and the healthy control groups ( P

Objective To explore the application and assess the cosmetic effect of mammaplasty with volume-displacement technique(VDT)following breast conserving surgery.Methods Breast conservation therapy(BCT) was performed in 77 patients of early breast cancer(EBC).Of the patients,42 cases received oncoplastic VDT (onco-plastic group)and 35 cases had only direct skin closure without treatment of the postresection defect (regular group) following BCT.The cosmetic results of the two groups were evaluated after operation and radiotherapy,respectively. Results All patients were followed up for 1 -36 months with median follow -up of 22.3 months,and no recurrence or metastasis occurred in one of the patients.1 month after surgery,the excellent or good cosmetic outcome were achieved in 31 cases (73.81%)in oncoplastic group and 17 cases (48.57%)in regular group respectively,and there was statistical difference between the two groups (χ2 =5.442,P =0.021);1 month after radiotherapy,the cos-metic excellent or good result were obtained in 27 cases (64.29%)in oncoplastic group and 6 cases (17.14%)in regular group respectively,and the difference between the two groups reached statistical significance (χ2 =9.045,P =0.008).Conclusion VDT can improve the cosmetic effect of mammaplasty following BCT in EBC and does not affect curative effect,it is worthy of promoting.

Objective To assess the diagnosis value of diffusion- weighted imaging (DWI) in Creutzfeldt-Jakob disease (CJD).Methods 8 cases of sporadic CJD who underwent MRI were reported. 4 cases were definite,3 cases were probable and 1 case was possible. The sensitivity of DWI and conventional MRI were compared. Results T_1WI and T_2WI revealed no abnormal signals except nonspecific diffuse brain atrophy in 4 cases, whereas DWI detected hyperintense abnormalities in all cases. 2 cases showed linear lesions only in the cerebral cortex, and 6 cases showed lesions in both the cerebral cortex and the striatum. The lesions were symmetric in 5 cases, but were asymmetric in the other 3 cases. Although fluid-attenuated inversion recovery (FLAIR) imaging also showed cortical hyperintensity in 1 case, the high signal changes were more evident and extensive on DWI. Conclusions The hyperintense changes in the cerebral cortices and/or striata on DWI are considered characteristic of CJD. DWI is more sensitive than conventional MRI in depicting lesions of CJD and may be an essential tool for the early diagnosis of this disease.

BACKGROUNDMyotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disease caused by abnormal expansion of cytosine-thymine-guanine (CTG) repeats in the myotonic dystrophy protein kinase gene. The clinical manifestations of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations, which make molecular methods essential for the diagnosis. So far, very few studies about molecular diagnosis in Chinese patients with DM1 have been reported. Therefore, we carried out a study using two different methods in molecular diagnosis to verify the validity in detecting CTG expansion in Chinese patients showing DM signs.

METHODSA total of 97 Chinese individuals were referred for molecular diagnosis of DM1 using conventional polymerase chain reaction (PCR) accompanied by Southern blotting and triplet primed PCR (TP-PCR). We evaluated the sensitivity and limitation of each method using percentage.

RESULTSBy conventional PCR 65 samples showed only one fragment corresponding to the normal allele and 62 out of them were correctly diagnosed as DM1 by TP-PCR and three homologous non-DM1 samples were ruled out; Southern blotting analysis successfully made 13 out of 16 correct diagnoses with a more sensitivity using α-(32)P-labeled probes than dig-labeled probes.

CONCLUSIONMolecular analysis is necessary for the diagnosis of DM1 and TP-PCR is a reliable, sensitive, and easily performed method in molecular diagnosis which is worthy to be popularized.

Adult ; Aged ; Blotting, Southern ; Female ; Humans ; Male ; Middle Aged ; Molecular Diagnostic Techniques ; methods ; Myotonic Dystrophy ; diagnosis ; genetics ; Polymerase Chain Reaction ; Sensitivity and Specificity ; Young Adult