Adolescent ; Child ; Female ; Humans ; Hypertension ; blood ; Insulin ; blood ; Insulin Resistance ; Male

Objective To explore the clinical symptoms and neuroimaging features of a patient with atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (H-ABC) caused by a novel TUBB4A mutation.Methods We analyzed the clinical data, imaging features and the result of genetic testing of a case diagnosed as atypical H-ABC.Results The initial symptoms were progressive spasticity, mild cerebellar ataxia and mild cognitive impairment.MRI showed regional blurring of slight high signal on T2-weight and FLAIR image in white matter of the bilateral midbrain ventral, internal capsule, posteior horn of lateral ventricle and centrum semiovale, with normal bilateral cerebellar and caudoputamen nucleus.Compared with normal subjects of the same age and gender, hypometabolism was found by 18F-FDG-PET in brainstem, cerebellar and caudoputamen nucleus in the patient.Genetic testing revealed a de novo pathogenic exome missense heterozygous mutations c.70G>A in TUBB4A, which was not reported in the human gene mutation database (HGMDpro) and was assessed to be a pathogenic mutation by pathogenic mutation prediction software.Conclusions The diversity of TUBB4A gene mutations may cause different functional and/or structural impairment in subcortical white matter, cerebellar and caudoputamen nucleus, leading to atypical symptoms and neuroimaging features.Genetic testing for pathogenic mutation in TUBB4A gene is a key for the diagnosis of H-ABC.

Objective To study the effects of rehabilitation(RT)on cardiac function in cerebral infarct (CIF)patients with cardiac insufficiency(CIS).Methods Fifty-nine CIF patients with CIS were randomly divid- ed into a treatment group(T group,n=29)and a control group(n=30),and all patients were treated with routine pharmacotherapy for 2 months.In addition,RT was administrated in the T group at the same time.The grading of the New York Heart Association(NYHA)and the changes in cardiac function associated index were observed in both groups before and after treatment.Results Compared with the control group,NYHA grades,left ventricle ejection fraction(LVEF),the levels of brain natriuretic peptide(BNP)in the blood plasma,and the 6min walking range of the T group patients were all significantly improved after treatment(P＜0.05).Conclusion RT can improve car- diac function in CIF patients with CIS.

Objective To analyze the characteristics of auditory verbal memory impairment in mild Alzheimer's Disease (AD) and Mild Cognitive Impairment (MCI).Methods Auditory verbal memory test was performed in 72 patients with MCI,45 patients with mild AD,and 62 normal controls.Results Significant intergroup differences were found in total former five free recall and learning scores,The MCI subjects( 16.4?5.5,2.6?1.7)performed significantly more poorly than the normal control subjects(NC) (30.2?5.6,3.4?1.9),and mild AD categories (9.8?4.1,2.0?1.2) showed lower results than the MCI subjects(t=2.26,P

ObjectiveTo probe the clinical features,diagnosis and treatment of idiopathic generalized myokymia.MethodsSeven patients with idiopathic generalized myokymia were analysed retrospectively.ResultsAll 7 patients showed prominent myokymia characterized by undulating and vermicular movements spreading across the muscle surface. The myokymia in gastrocnemius muscles in all cases. The myokymia also appeared in both upper extremities in 5 patients,and in faces,waist,back,abdomen and all extremities in 2 patients. Muscle rippling movement was induced and increased by exercise,and persistent during sleep. The vermicular myokymia could be observed easily in the relaxation of the muscles. Electromyography tests showed myokymic discharges in 5 patients,but normal in 2 patients. 5 patients of them were cured with carbamazepine and phenytoin sodium.ConclusionThere are typical clinical features and effective treatment in the patients with idiopathic generalized myokymia.

OBJECTIVETo evaluate the application of CXC chemokine receptor-4 (CXCR4) combined with alpha-methylacyl-CoA racemase (P504S) or P63 protein in the differential diagnosis of benign and malignant prostatic diseases.

METHODSThe EnVision immunohistochemical method was used to detect the expressions of CXCR4, P504S and P63 protein in 40 specimens of PCa not treated by any anticancer therapy and 30 specimens of BPH tissues. The correlation was analyzed between CXCR4 expression and the characteristics of PCa metastasis.

RESULTSOf the 40 cases of PCa, 33 (82.5%) were stained positive for CXCR4, 37 (92.5%) for P504S and 2 (5%) for P63 protein. Of the 30 cases of BPH, 5 (16.6%) exhibited positivity for CXCR4, 1 for P504S and all for P63. P504S + P63 showed a higher rate of correct diagnosis of PCa than either CXCR4 + P63 or P504S + CXCR4. There was a statistically significant correlation between CXCR4 expression and cancer metastasis (P < 0.05).

CONCLUSIONP504S, CXCR4 and P63 are useful tumor markers for the diagnosis and differentiation of benign and malignant prostatic diseases. CXCR4 gives a high rate of correct diagnosis when combined with P504S or P63, and has an important application value in the differential diagnosis of benign and malignant prostatic diseases.

Aged ; Aged, 80 and over ; Biomarkers, Tumor ; biosynthesis ; Diagnosis, Differential ; Humans ; Male ; Membrane Proteins ; biosynthesis ; Middle Aged ; Prostatic Hyperplasia ; diagnosis ; metabolism ; pathology ; Prostatic Neoplasms ; diagnosis ; metabolism ; pathology ; Racemases and Epimerases ; biosynthesis ; Receptors, CXCR4 ; biosynthesis

We have isolated a strain C611 that used methane as the sole carbon sources for growth from paddy soil in Taiyuan of Shanxi province. Based on the physiological characteristics and 16S rDNA sequence analysis, we identified the strain as Klebsiella sp.. We used statistic-based experimental design (RSM) to optimize the culture conditions for C611 strain. The optimum conditions were as follows: temperature of 24.4 degrees C, inoculum volume of 6.7% and methane content of 25%. We studied the response time and the relationship between consumption of dissolved oxygen and methane gas contents with PVA-H3BO3 immobilized cell of C611 using electrochemical method. The response time was no more than 100 s of this reaction system, and the linear range of detection of methane content was from 0 to 10%. The standard gas sample 3% methane was measured by this method with the mean content value of 3.09%, RSD of 3.48%, and the relative error of 3%. Hence, it has the potential in developing biosensor for methane.
Environmental Monitoring ; methods ; Klebsiella ; isolation & purification ; metabolism ; Methane ; analysis ; metabolism ; Soil Microbiology

Adult ; Aged ; Cell Cycle Proteins ; analysis ; Coal Mining ; Cyclin-Dependent Kinase Inhibitor p27 ; Female ; Humans ; Immunohistochemistry ; Lung ; chemistry ; pathology ; Male ; Middle Aged ; Occupational Diseases ; metabolism ; Pneumoconiosis ; metabolism ; Tumor Suppressor Proteins ; analysis

OBJECTIVETo explore the effective methods for evaluating the consciousness and speech status of patients with special types of cerebral injuries.

METHODSA total of 96 patients with injury in the language center and in coma were treated with operative and correlated conventional therapies. Then their recovery status of consciousness and speech was observed.

RESULTSAll the patients were recovered to consciousness. Sixty-nine patients with aphasia were cured completely, but 7 patients were complicated with incomplete ataxic aphasia, 15 with incomplete sensory aphasia, and 5 with incomplete mixed aphasia.

CONCLUSIONSFor the patients with injury in the language center, evaluation of the conscious state with GCS scoring system has certain limitations and conscious behaviours are advantageous evidences to evaluate the consciousness recovery of the patients. The patients with conscious disturbance and injury in the language center should be considered to have aphasia.

Adult ; Aged ; Aphasia ; diagnosis ; Consciousness ; Craniocerebral Trauma ; psychology ; Female ; Glasgow Coma Scale ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Speech

OBJECTIVETo establish a model of human monocytic leukemia with CNS infiltration in BALB/c nude mice.

METHODSBALB/c nu/nu mice pre-treated by splenectomy, cytoxan intraperitoneal injection, and sublethal irradiation (SCI), were transplanted intravenously with 1 x 10(7) of human monocytic leukemic SHI-1 cells. The leukemic cells engrafted in the mice were detected by RT-PCR, histopathological examination, immunohistochemistry and FCM.

RESULTSThe survival time of SCI-nu/nu mice was 33-46 d. Paraplegia occurred in some of the mice. 5 weeks after transplantation, SHI-1 cells engrafted in SCI-nu/nu mice, multi-organs were involved and green solid neoplasms were formed in some organs. Histopathological examination found that SHI-1 cells infiltrated in liver, lung, kidney and testis of the mice and vertebral and skull bone marrow was replaced by leukemic cells. Leukemic cell penetrated through the surface of vertebrae, formed neoplasm, and entered the subdural space, but seldom involved the spinal parenchyma. In brain leukemia cells were filled in the subdural space and pia-arachnoid, covered the surface of cerebrum, cerebellum, spread along the virchow-robin space on the surface of pia mater, and eventually invaded the brain parenchyma.

CONCLUSIONSHI-1 cells could engrafted in the SCI-nu/nu mice, form an efficient and reproducible experimental model of CNSL and systematic leukemia. This model may be useful for studying the pathogenesis of CNSL.

Adult ; Animals ; Cell Line, Tumor ; Central Nervous System Neoplasms ; Humans ; Leukemia, Experimental ; pathology ; Leukemia, Monocytic, Acute ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Rats ; Xenograft Model Antitumor Assays ; methods