Study on the phenotype and genotype of X-linked adrenoleukodystrophy / 中华神经科杂志

Objective:To summarize the phenotype and genotype of X-linked adrenoleukodystrophy (X-ALD) patients, and compare the phenotype and genotype characteristics between children and adult patients.Methods:The comprehensive clinical data of 30 patients with X-ALD admitted to Beijing Jingdu Children′s Hospital and the First Medical Center of People′s Liberation Army General Hospital from August 2012 to December 2019 were analyzed, including their clinical manifestations and the results of gene test, biochemical test and magnetic resonance imaging examination, etc.Results:Among the 30 patients, 15 (50.0%) were childhood cerebraI ALD (CCALD, onset age 5－10 yeas, mean 7 years), 13 (43.3%) were adrenomyeloneuropathy (AMN, onset age 21－41 yeas, mean 29 years). One (3.3%) was adult cerebral ALD (onset age 29 yeas), one (3.3%) was pure Addison disease (onset age 3.5 yeas). Most common clinical phenotype in children was CCALD and the first symptoms were inattention, learning ability decline, vision and hearing impairment. Otherwise the most common type in adult was AMN and the first symptoms were mainly progressive weakness of the lower limbs, muscle spasm, and abnormal gait. These patients came from 29 different families, among whom, 25 patients conducted gene test and 22 different types of ABCD1 gene mutations were found. Missense mutation was the main gene mutation type. Patients with different clinical types had no specificity in gene mutation types.Conclusions:In China, the most common clinical classification of X-ALD in children is CCALD, and AMN in adults. No clear correlation has been found between genotype and phenotype.

CT guided percutaneous transhepatic microwave ablation for primary liver cancer in segment 9 / 中华肝胆外科杂志

Objective:To study the efficacy and safety of CT guided percutaneous transhepatic microwave ablation (PTPMWA) for primary liver cancer (PLC) in liver segment 9.Methods:A retrospective study was conducted on PLC patients between October 2013 and March 2019 at Dongguan People’s Hospital, Southern Medical University. Of 41 patients who entered into the study, there were 36 males and 5 females, with an average age of 59.1 years. These patients were diagnosed to have PLC in segment 9. The surgical related data and follow-up results were collected and analyzed.Results:All patients enrolled in the study completed the treatment procedure. CT scan was performed immediately after ablation which showed that the tumor areas to be completely covered by ablation. The duration of operation ranged from 45 to 260 (mean 91) min. The amount of bleeding during treatment was 1.0 to 5.0 (mean 1.4) ml. The complete response rate was 97.6% (40 patients) and the partial response rate was 2.4% (1 patient). The cumulative survival rates at 1, 2, 3, 4 and 5 years were 95.1%, 85.4%, 75.3%, 45.2% and 45.2%, respectively. Only 4 patients (9.8%) developed recurrence after treatment. The timings of recurrence were 1, 6, 13 and 67 months after treatment, respectively. The recurrent lesions were ablated again and complete response was obtained in all patients. There were no serious problems related to complications from ablation. The rate of postoperative complication was 7.3% (3 patients).Conclusion:PTPMWA is a novel treatment for patients with PLC in liver segment 9, the advantages of this treatment include good safety, high efficacy, low complications and local recurrence. The treatment is worthy of further future studies.

Clinical value of CereTom mobile CT scanner for patients in neurological ICU / 医疗卫生装备

Objective To explore the clinical value of cranial CT for the patients in neurological ICU by analyzing the application of mobile CT scanner CereTom in some hospital.Methods Retrospective analysis was carried out for the patients being hospitalized and undergoing cranial CT examination in some hospital from March 2012 to August 2014.Results Totally 261 patients and 325 times of examination were involved in, and two ones failed in the examination, with the success rate of 99.23%. There were 218 patients (83.52%) had the examination completed in one time and 43 ones (16.48%) in several times. It's proved that bedside CT could be applied clinically with high successful rate. The mean time of bedside CT examination was (18.3±3.8)min, significantly less that then of common examination.Conclusion Mobile CT may decrease moving-related risk of the patient and the time, manpower consumed for examination, and thus is worth popularizing clinically.

Investigation of B-cell activating factor in serum and cerebrospinal fluid of patients with neuromyelitis optical / 南方医科大学学报

<p><b>OBJECTIVE</b>To study the expression of B-cell activating factor (BAFF) in the serum and cerebrospinal fluid of patients with neuromyelitis optical (NMO).</p><p><b>METHODS</b>Clinical data were collected from 44 patients with NMO and 38 patients with multiple sclerosis (MS). Thirty healthy controls and 15 controls with noninflammatory neurological diseases were also recruited. The concentration of BAFF in the serum and cerebrospinal fluid were measured by enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>The mean serum BAFF level was 250.2 ± 126.9 pg/ml in NMO patients, 249.6 ± 130.7 pg/ml in MS patients, and 222.9 ± 126.1 pg/ml in the control subjects, showing no significant difference among the 3 groups (P>0.05). The mean BAFF level in the CSF was significantly higher in NMO patients than in MS patients (525.8 ± 230.0 pg/ml vs 298.4 ± 141.9 pg/ml, P<0.05), and higher in MS patients than in the control subjects (141.4 ± 76.2 pg/ml, P<0.05). Both NMO and MS group showed a positive correlation between EDSS scores and CSF BAFF level. But in NMO patients, CSF BAFF level was not associated with AQP4-antibody titer.</p><p><b>CONCLUSION</b>BAFF in the CSF may be a useful biomarker for a differential diagnosis of NMO from MS and has an important value in evaluating the disease severity.</p>

Epidemiological characteristics of typhoid fever and antibiotic susceptibility testing of Salmonella Typhi isolates in Guangxi, 1994-2013 / 中华流行病学杂志

<p><b>OBJECTIVE</b>Through analyzing the typhoid epidemics and to determine and monitor regional resistance characteristics of the shift of drug resistant profile on Salmonella (S.) Typhi, to understand the related epidemiological characteristics of typhoid fever and to provide evidence for the development of strategies, in Guangxi.</p><p><b>METHODS</b>Data of typhoid fever from surveillance and reporting system between 1994 to 2013 was collected and statistically analyzed epidemiologically. The susceptibility of 475 S. Typhi isolates from patients on ten antibiotics was tested by broth micro-dilution method and minimum inhibition concentration was obtained and interpreted based on the CLSI standard.</p><p><b>RESULTS</b>From 1994 to 2013, a total of 57 928 cases of typhoid fever were reported in Guangxi province with an annual incidence of 6.29/100 000 and mortality as 0.03%. The higher incidence was observed in the population under 20 years of age. There was no significant difference on incidence between male and female, but farmers and students were among the hardest hit groups. More cases were seen from the northern part of the province. Cases appeared all year round with the peak from May to October. A total of 13 major outbreaks during 2001 to 2013 were reported and the main transmission route was water-borne. All the strains were sensitive to third generation cephalosporins cefotaxime and fluoroquinolones norfloxacin. The susceptibility rates to tetracycline, chloramphenicol, ampicillin and gentamicin was around 98% but relative lower susceptible rate to ciprofloxacin was seen as 89.89% . The lowest susceptibility was found for streptomycin and sulfamethoxazole agents, with the rates as 67.73% and 65.89% , respectively. One strain was found to have been resistant to ciprofloxacin and another 47 isolates with reduced susceptibility to ciprofloxacin. Twenty eight isolates were found to be resistant to multiple antibiotics and one displayed ampicillin, chloramphenicol, streptomycin, sulfamethoxazole tetracycline and nalidixic acid (ACSSxT-NAL) resistance profile. This was the first report in China. Multi-drug resistant strains were frequently isolated from small scale outbreaks of typhoid fever.</p><p><b>CONCLUSION</b>The incidence of typhoid fever in Guangxi was still high and some strains showed multi-drug resistance and reduced susceptibility to ciprofloxacin, indicating that the surveillance and monitor programs on drug resistance of S. Typhi should be strengthened, to prevent large scale outbreaks of typhoid fever in this province.</p>

Study on value of NMO-IgG in diagnosis of neuromyelitis optica / 中国免疫学杂志

Objective:To investigate the value of NMO-IgG in diagnosis of neuromyelitis optica(NMO).Methods:A total of 120 patients with NMO,including high-risk NMO(HR-NMO),multiple sclerosis(MS),and other neurological diseases were enrolled in the study.The titres of serum NMO-IgG in all patients’ were detected by indirect immunofluorence.Results:The sensitivity and specificity of NMO-IgG were 67%,92% respectively in diagnosis of NMO.There were significantly differences in serum NOM-IgG posieivity among patients with NMO and MS who experienced severe optical neuritis,transverse myelitis,spinal-cord lesion beyond 3 segments as well as the patients with normal MRI scan in brain brain normal in MRI scan,serum and accompanied with other immunological disorders(P

Correlating phenotype and genotype in the familial hypokalaemic periodic paralysis / 中华神经科杂志

Objective To inquire into the location of the relevant gene mutations in the Chinese familial hypokalaemic periodic paralysis, and to specify the correlation between the genotype and the clinical features of this disease. Methods Target-exon PCR and DNA direct sequencing were used to research the mutations in the CACNA1S, SCN4A, and KCNE3 genes of 14 familial hypokalaemic periodic paralysis probands. If a positive member was found, the other members of his (her) family must be inspected with the sequencing method. Results The probands of 3 families showed the known correlating mutations of hypokalaemic periodic paralysis, which were R1239H mutations in the CACNA1S in 1 family and R672H mutations in the SCN4A in the other 2 families. In addition, the differences of the age of onset, the responsibility to the treatment with acetazolamide and penetrance were found between the CACNA1S R1239H and SCN4A R672H mutations. Conclusions SCN4A R672H and CACNA1S R1239H mutations exist in the Chinese familial hypokalaemic periodic paralysis. Differences of the clinical features exist, resulting from these 2 kinds of mutations.

Clinical analysis of 8 cases of MELAS syndrome that misdiagnosed as herpes simplex virus encephalitis / 临床神经病学杂志

Objective To analyze clinical characteristics of 8 cases of MELAS syndrome that misdiagnosed as herpes simplex virus encephalitis(HSE).Methods The clinical data of 8 cases of MELAS syndrome that misdiagnosed as HSE were reviewed retrospectively.Results The main manifestations of 8 cases were repeated fever,progressive mental impairment,seizures,headache,descent of eyesight and hearing,weakness of extremities.Fever was the common symptom in the 8 cases.Exercise tolerance dose of serum lactic acid levels studied in 8 cases were obviously abnormal.Imaging examinations showed laminar necrosis or atrophy in brain lobes and basal ganglia areas.Electroencephalogram(EEG) mainly showed diffused slow waves,1 patient displayed myogenic injury in electromyogram(EMG).Muscle biopsy showed red ragged fibers and abnormal mitochondria in all cases.Conclusions The clinical manifestations of MELAS syndrome are similar to HSE,but EEG and imaging results are obviously different from HSE.Exercise tolerance dose of serum lactic acid and muscle biopsy are important for diagnose of MELAS syndrome.

CT and MRI on tumor like inflammatory demyelinating disease / 临床神经病学杂志

Objective To investigate the clinical and imaging characteristics of tumor like inflammatory demyelinating disease of CNS, We have analyzed the reason of misdiagnosis, and summed up the main point of differential diagnosis.Methods We have analyzed 14 cases which were confirmed as demyelinating disease in pathology after the operation, and all the clinical and image data were included.Results CNS inflammatory demyelinating disease could present edema and mass effect by CT or MRI, there was ring potentialization after enhancement, it was difficulty to distinguish from CNS demyelinating disease. All the 14 patients were misdiagnosis as CNS tumor before the operation.Conclusion CNS inflammatory demyelinating disease could have some atypical representation on CT or MRI image, they were made easily the misdiagnosis. We should get the differential diagnosis by many ways including clinical manifestation, course, laboratory examination and imaging characteristics.

Value of diffusion-weighted MR imaging in the diagnosis of Creutzfeldt-Jakob disease / 中华放射学杂志

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.

Analysis of clinical features and prognosis of multiple sclerosis / 临床神经病学杂志

Objective To analyse the clinical features and prognosis of multiple sclerosis (MS). Methods Clinical data of 117 patients with MS were analyzed retrospectively. The clinical and imaging characters in types of optico-spinal(OSMS) and conventional MS(CMS) were compared.Results Among the 117 MS patients, 42 cases(35.9%) were OSMS. 75 cases(64.1%) were CMS. About the clinical manifertation, the incedence of extremital weakness(88.1%), anesthesia(85.7%),abnormal sensation(57.1%), vision(76.2%), urination disorder (73.8%) in OSMS patients were significantly higher than those in CMS patients(70.7%,56.0%,20.0%,45.3% and 26.7%)(allP

Clinical features and differential diagnosis of Miller-Fisher syndrome and Bickerstaff's brainstem encephalitis / 临床神经病学杂志

Objective To study the clinical characteristics and differential diagnosis of Miller-Fisher syndrome (MFS) and Bickerstaff's brainstem encephalitis (BBE).Methods The clinical data of 12 patients with diagnosis of MFS and 15 patients with diagnosis of BBE were analyzed retrospectively.Results In MFS group, the patients showed diplopia (12 cases), loss of pupillary light reflex (3 cases), peripheral facial paralysis (7 cases), hydroposia bucking (1 case), weakness of limbs (6 cases), sensory disability (4 cases) and ataxia (10 cases). In BBE group, the patients presented with diplopia (11 cases), central facial palsy (4 cases), tinnitus (4 cases), hydroposia bucking (6 cases), weakness of limbs (10 cases), sensory disability (2 cases), ataxia (10 cases), somnolence or coma (5 cases) and positive Babinski's sign (9 cases). CSF examination showed elevation of protein in 10 patients from BBE group and 10 patients from MSF group, however, leucocytosis was found in 6 cases from BBE group and 2 cases from MSF group. There were 4 patients of MFS and 1 patient of BBE with abnormal results of electromyogram (EMG) examination. 6 patients in BBE group had abnormal results of CT or MRI examinations, and the lesions mainly located in brainstem, thalamus and so on. Both groups had good prognosis after therapies. Conclusions MFS and BBE have similar and overlapped clinical characteristics. This indicates that these two diseases are closely related and may form a continuous spectrum. The main identifications of BBE are conscious disturbance, positive reflex of Babinski's sign and abnormal imaging results in some patients.