Objective 　To study the clinical and electrophysiological features in Charcot-Marie-Tooth disease type 1A with gene duplication.Methods　Clinical symptoms and signs were summarized in 22 patients from 21 unrelated families. Electromyography (EMG) as well as motor conduction velocities (MCV) and sensory conduction velocities (SCV) examinations were performed in all patients. Results　Evidence of CMT was initially detected within the second decade in 18 patients. Nearly half of patients were sporadic cases. The typical clinical manifestations of CMT1A were weakness and atrophy in the distal limbs, weakness or absence of the tendon reflexes, talipes equinovarus and postural tremor the upper limb. Additionally, some special symptoms and signs were also observed occasionally, including brisk tendon reflexes, extensor plantar responses, scoliosis, foot ulcers and nystagmus. EMG revealed that 77.3% of the patients had fibrillation and positive sharp potentials. 81.8% of them had prolonged motor unit potential limit. Median MCV showed there was no significant difference between CMT1A patients and CMT1 patients without duplication (t=1.63, P＞0.05). Values of SCV and MCV for the lower limbs were not obtained in 20 patients and more than 2/3 of the patients respectively. Conclusions　The clinical features of CMT1A included high frequent of sporadic cases, early onset in the second decade and various manifestations. The electrophysiological features were that the damages of nerves for the lower limbs were more severer than those in the upper limbs and the damages of the sensory nerves were more severer than those of the motor nerves. The phenotype was variable although the genotype was the same in CMT1A patients with PMP22 duplication.

As a safe,cheap and effective diabetes drug,metformin has been used for many years.Diabetes increases the risk of liver cancer and affects its prognosis.In recent years,it is found that metformin reduces the pancreatic cancer risk in the treatment of diabetic patients,a large of experiments also prove that it has anti-cancer and synergistic anticancer effect.This paper focused on the effects of metformin on treatment of Ⅱ type diabetes,discussed the curative effect on liver cancer,suggested the molecular biology mechanism of inhibiting tumor,listed the latest experiment researches,analyzed the existed clinical data,proposed the further study of anticancer mechanism and clinical treatment.Metformin for a future role in prevention of hepatocellular carcinoma in patients with type Ⅱ diabetes are briefly summarized and future prospects,which in type Ⅱ diabetic patients with liver cancer in a prospective study of the effect of treatment.Mefformin for application in other cancer prevention also raises possibilities.

OBJECTIVETo observe the inhibitory effect of citrus extract nobiletin on K562 cells xenograft in nude mice and discuss its anticancer activity and mechanism.

METHODThe model of K562 cells xenograft was established in nude mice. Twenty-five nude mice were divided to five groups. After 24 hrs of inoculation with K562 tumor cells subcutaneously, 1% CMC-Na in the nude mice of model control group, nobiletin (12.5, 25, 50 mg x kg(-1)) in the nude mice of nobiletin groups and CTX (20 mg x kg(-1)) in positive control group were administered once every day. The nude mice were killed at 18th day-point of administration. The inhibitory rate of nobiletin on tumor was calculated according to the measured tumor weight. Immunohistochemistry assay was used to determine the effect of nobiletin on VEGF expression and MVD, and CAM assay was used to detect the effect of nobiletin on vessel regeneration.

RESULTNobiletin have notable inhibition on K562 cells xenograft in nude mice comparing with model control group (P < 0.01), the inhibitory rate of nobiletin groups were 36% -58%. The results of immunohistochemical technology showed that the expression of VEGF in nobiletin groups decreased significantly comparing with the model control group (P < 0.05, P < 0.01, P < 0.01). Nobiletin could remarkably decrease the angiogenesis within tumor tissues. The expression of CD34 in nobiletin low dose group and high dose group was lower than that in model control group (P < 0.05, P < 0.01). The result of CAM indicated that 4 microg and 2 microg nobiletin could inhibit the new blood vessels of CAM (P < 0.01).

CONCLUSIONNobiletin inhibited the tumor growth and angiogenesis by reducing the VEGF expression of K562 cells xenograft in nude mice.

Angiogenesis Inhibitors ; pharmacology ; Animals ; Antineoplastic Agents ; pharmacology ; Citrus ; chemistry ; Disease Models, Animal ; Flavones ; pharmacology ; Gene Expression Regulation, Neoplastic ; drug effects ; Humans ; K562 Cells ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Nude ; Neoplasm Transplantation ; Neoplasms ; drug therapy ; genetics ; metabolism ; Transplantation, Heterologous ; Vascular Endothelial Growth Factors ; genetics ; metabolism

Using atomic force microscope (AFM), we investigated the images of Pars influenza virus (PIV) under different treatment conditions and observed the different appearances of the virus and its ultra-microstructure from the exterior to the interior. From the 2D images under transmission electron microscope (TEM), we could see that the surfaces of PIV particles exhibited spherical and band-shaped 'tufts'; from the 3D images under AFM, we could further observe the whole spherical virus particles and their detailed surfaces, which exhibited round and band-shaped 'tufts'. Comparing the images under TEM with those under AFM, we found that the latter could reveal the surface topograph and ultramicrostructure of viruses more truly than did the former. The samples of viruses were treated by Tritonx-100, the lipid envelopes of virions were partly or completely resolved, and then most of their capsids were exposed. We could observe the different appearances of the virions under AFM, the lipid envelopes of which were gradually removed. The samples of viruses were also treated by SDS, and the RNA was released from the virions. From the AFM images, we could see the structure of the RNA. It was thus clear that AFM could be used to investigate the different appearances and ultramicrostructure of viruses rapidly and efficiently.
Microscopy, Atomic Force ; Parainfluenza Virus 1, Human ; ultrastructure ; Parainfluenza Virus 2, Human ; ultrastructure

Objective To investigate the clinical manifestation and electrophysiological, muscle imaging and pathological, molecular features of oculopharyngodistal myopathy (OPDM). Methods The clinical electrophysiological, muscle imaging and pathological, molecular data was collected from a case of OPDM. Data analysis was conducted together with a literature. Results The onset age of the patient was 25 years old. The sequential order of involved muscle was upper eyelid muscle, external ocular, laryngopharyngeal, facial, distal limb muscle and proximal upper limb. Serum creatine kinase was mildly elevated. Electromyography revealed myogenic changes with demyelinating peripheral neuropathy. Myopathological findings showed myopathic changes with rimmed vacuoles . Muscle image showed that fatty replacement of was more severe in lower legs than in thigh. Posterior muscle was severely involved in lower legs. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by targeted next-generation sequencing. Conclusion The case is a sporadic case. OPDM is a disease with a unique phenotype which not only affects muscle but also involves multiple system (demyelinating peripheral neuropathy、heart disease and so on).

Objective To strengthen the recognition of atypical POEMS syndrome in order to improve diagnosis rate of rare cases of POEMS syndrome. Methods The diagnosis and treatment of a rare case of POEMS syndrome coexisting with Castleman disease but without M protein in serum, urine and bone marrow who was admitted to Xuanwu Hospital, Capital Medical University in November 2017 were retrospectively analyzed with review of the literature. Results The elder male was suspected with a diagnosis of POMES syndrome, but absence of monoclonal plasma cell disease that made it difficult to diagnose. Systemic PET-CT found an active metabolic lesion in left iliac bone. Although the lymph node biopsy had been performed for a diagnosis of Castleman disease, a bone biopsy was also done for a definite diagnosis. Pathological result indicated a plasmacytoma which confirmed a diagnosis of POEMS syndrome without M protein in serum, urine and bone marrow. Literature review suggested that the application of immunofixation electrophoresis was helpful to improve the diagnostic rate of POEMS syndrome. For patients with a suspected diagnosis of POEMS syndrome, bone biopsy, flow cytometry and systemic PET-CT may assist in the search for monoclonal plasma cell. Periphery neuropathy, bone lesion and treatment response were helpful in distinguishing Castleman disease coexisting with POEMS syndrome from Castleman disease without POEMS syndrome. Conclusions When a mandatory major criterion of POEMS syndrome is not sufficient, it should be actively sought, especially for patient with a suspected diagnosis of POEMS syndrome. For patients with multiple lesions, multi-site biopsies are necessary to assist in diagnosis.

No abstract available.
Fluorodeoxyglucose F18 ; Positron-Emission Tomography and Computed Tomography ; Thyroid Gland

In order to explore the genomic characteristics,its virulence,evolution,the correlation be-tween drug resistance phenotype and resistance genes of S.equi XJ 5012,to laid a theoretical basis for efficient prevention and control of strangles,whole genome sequencing was investigated.In this study,the antimicrobial suceptibility of S.equi XJ 5012 was tested by the paper disk method and its whole genome was sequenced,Then the 16S rRNA evolution,SeM genotyping,antibiotic resist-ance gene and virulence gene were compared and analyzed.Drug susceptibility results showed that S.equi XJ5012 was sensitive to 13 antibiotics,such as amoxicillin,ampicillin,cefuroxime,cefotio-fur,cefoxitin,streptomycin,erythromycin,oxytetracycline,levofloxacin,norfloxacin,ciprofloxacin,rifampicin,clindamycin,sulfadiazine sodium,and resistant to 6 antibiotics,such as penicillin,genta-micin,clarithromycin,doxycycline,tetracycline and sulfonamide isoxazole.The whole genome se-quencing results of showed that the genome size of S.equi XJ 5012 was 2.21 Mb,the GC content was 41.31％and this strain has 2 264 code genes.Antibiotic resistance genes database(ARDB)in-dicated that the S.equi XJ 5012 carried 135 drug resistance gene,among which the resistance genes mainly were macrocyclic lipids,fluoroquinolones,aminoglycosides,peptides,tetracyclines and β-lac-tam antibiotics,correlating well with the results of drug susceptibility test.Virulence Factors Data-base(VFDB)indicated that S.equi XJ 5012 carried 197 virulence genes include adhesion,antiph-agocytosis,extracellular enzyme encoding,secrtion,and iron uptake.The phylogenetic tree based on 16S rRNA gene confirmed that the strain XJ 5012 was closely related to S.equi 4047.The results of SeM genotyping revealed that S.equi XJ 5012 was SeM-217,which was closely related to Xin-jiang isolates SeM-209 and SeM-215 and foreign isolates SeM-195 and SeM-196.In this study,the whole genome sequencing analysis of S.equi XJ 5012 based on the third generation sequencing technology is the first report on the genome of S.equi in China,which provides a reference for a more comprehensive and in-depth understanding the characteristics of the genomic,molecular epi-demic and drug resistance of the strain.It is significant for the further prevention and control of strangles and understanding of pathogenic mechanism of S.equi.

Sepsis associated-acute kidney injury (SA-AKI) is a common complication of sepsis, which has a high incidence and is closely related to a poor prognosis. However, delayed diagnosis and non-specific treatments make it difficult to systematically manage SA-AKI. Based on massive clinical data, machine learning could build prediction models, which provide alarms and suggestions for the clinical decision support system. Although there are still many challenges such as poor interpretability, it has shown clinical application value in SA-SKI risk prediction, imaging diagnosis, subtype identification, prognosis assessment, and so on. Based on a brief introduction of machine learning, this article reviews the application, limitations, and future directions of machine learning in the diagnosis and treatment of SA-AKI, and explores the possibility of machine learning in the medical field, in order to promote the development of precision medicine and intelligent medicine.

In the course of severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infec-tion,to verify whether ursodeoxycholic acid(UDCA)can reduce angiotensin-converting enzyme 2(ACE2)receptor in BALB/c mice and reduce the risk of infection.UDCA was administered by in-tragastric administration to BALB/c mice for 7 d.During the treatment,the turbinate bones and lungs of mice were taken every day,and the changes of ACE2 content in the turbinate bones and lungs of mice were detected by ELISA.In addition,after 1,4 and 7 d of intragastric prophylaxis,BALB/c mice were infected with SARS-CoV-2 C57MA14 mouse adapted strain and SARS-CoV-2 Omicron DY1.1,respectively,after nasal inoculation,and viral load was detected on the turnings and lungs of mice 3 d after challenge to evaluate the preventive effect.In addition,UDCA was used to treat BALB/c mice infected with SARS-CoV-2 C57MA14 mouse adapted strain after nasal drops by gavage for 3 d,and the viral load of the mouse turbinate and lung was detected to evaluate the therapeutic effect.UDCA can decrease ACE2 content in turbinate and lung of BALB/c mice.How-ever,after 1,4 and 7 d of UDCA intragastric administration,there was no statistical difference in viral load in turbinate and lung of BALB/c mice between the prevention group and the virus con-trol group.There was no significant difference in the viral load of the turbinate and lung between the UDCA treatment group and the viral control group.UDCA could reduce the ACE2 content in the turnings and lungs of aged BALB/c mice,but the daily dose and duration of UDCA treatment had no significant effect on the mice infected with SARS-CoV-2 C57MA14 mouse adapted strain and SARS-CoV-2 Omicron DY1.1.