Objective To investigate the characteristics of PMP22 duplication mutation and the clinical variability of Charcot-Marie-Tooth disease type 1A (CMT1A) patients. Methods PMP22 duplication mutation analysis were performed in 45 cases diagnosed probably CMT by combination of improved allele-specific PCR-restriction enzyme digestion and short tandem repeat (STR) analysis based on laser-induced fluorescence detection in capillary electrophoresis. The clinical features of the positive cases were precisely analyzed. Results With the combined use of two methods, PMP22 duplication was detected in 21 cases, i.e. 10 CMT1 cases with typical presentations including weakness and atrophy in the distal limbs, and 11 atypical cases with special phenotypes including 1 case with mild dizziness, 1 case with hearing loss, 2 cases with recurrent limbs weakness, 2 cases with postural tremor in the upper limbs, 4 cases with cerebellar ataxia and 1 case with epilepsy. Conclusions The improved allele-specific PCR-restriction enzyme digestion provides the accurate, reliable and feasible method to detect PMP22 duplication, which is the most common cause of CMT. Comprehensive analysis of clinical, electrophysiological and pathological features of the CMT1A patients with positive PMP22 duplication indicate the high clinical variability of this disease.

Objective To investigate the clinical features and genetic mutations of spinocerebellar ataxia type 17 (SCA17).Methods The pathological CAG triplet repeat expansions of the SCA3,SCA1,SCA2,SCA6,SCA7,SCA8,SCA12,SCA17 and dentatorubral pallidoluysian atrophy genes were analyzed in 708 probands of autosomal dominant familial SCA and 1 19 sporadic SCA cases.The CAG repeats of TATA-binding protein (TBP) gene were amplified by means of polymerase chain reaction and agarose gel electrophoresis.For the samples with two alleles,fragment analysis based on CEQ8000 sequencer was applied to analyze the CAG repeat numbers.Furthermore,the correlation between clinical features and CAG repeat in the TBP gene was studied carefully.Results The expanded CAG repeats in the TBP gene was detected in 5 cases with 37/50,36/45,38/52,38/53,36/54 separately.And the main clinical manifestations were ataxia and memory impairment.Conclusion These findings indicate that SCA17 might be a rare subtype of SCA in the Chinese population and the clinical features of SCA17 cover a wider spectrum than previously reviewed.

OBJECTIVETo investigate the mechanism of myocardial cell apoptosis during delayed preconditioning induced by Sini decoction (SND).

METHODSD rats were divide into four groups: control, sham, I/R and SND groups. The rats in I/R group, left anterior descending coronary artery (LAD) was occluded for 1h and reperfused for 1 h. The rats in SND group were pretreated with Sini decoction (5 g x kg(-1) x d(-1)) for three days, the last treatment was pretreated 24 h before the index occlusion. Cell apoptosis was measured by flow cytometry, cytochrome C and bcl-xl were detected by Western blotting and the activity of caspase-3 was detected by assay kit.

RESULTAs compared with I/R group, apoptosis rate of myocardial cell, the release of cytochrome C from mitochondria and the activity of caspase-3 were significantly decreased, and the expression of bcl-xl protein was elevated in SND group.

CONCLUSIONThe delayed preconditioning induced by Sini decoction decreased myocardial cell apoptosis. The mechanism may be related to the inhibition of mitochondria signal pathway of apoptosis.

Aconitum ; chemistry ; Animals ; Apoptosis ; drug effects ; Caspase 3 ; metabolism ; Cytochromes c ; metabolism ; Drug Combinations ; Drugs, Chinese Herbal ; isolation & purification ; pharmacology ; Ginger ; chemistry ; Glycyrrhiza uralensis ; chemistry ; Ischemic Preconditioning, Myocardial ; methods ; Male ; Mitochondria, Heart ; metabolism ; Myocardial Reperfusion Injury ; metabolism ; pathology ; Myocytes, Cardiac ; pathology ; Plants, Medicinal ; chemistry ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; bcl-X Protein ; metabolism

Adult ; Hepatic Encephalopathy ; therapy ; Hepatitis ; complications ; therapy ; Humans ; Liver Failure, Acute ; therapy ; Liver, Artificial ; Plasma Exchange

OBJECTIVETo observe the efficacy of 5-aminolevulinic acid photodynamic therapy (ALA-PDT) for treating psoriasis vulgaris in guinea pigs.

METHODSExperimental psoriasis vulgaris was induced in guinea pigs by application of 5% propranolol on the ear skin. After dressing of the skin lesion with 20% ALA solution for 4 h, the lesions were irradiated with a semiconductor laser at the wavelength of 635 nm and energy density of 12 J/cm(2). The guinea pigs were divided into control group, ALA only group, light only group, single ALA-PDT treatment group and twice ALA-PDT treatment group. In each group, gross observation and biopsy of the skin lesions was conducted on days 7, 14, 21 and 28 after the treatment.

RESULTSIn terms of gross observation of the lesion, epidermal thickness and proliferating cell nuclear antigen (PCNA) expression, ALA-PDT treatment showed obvious therapeutic effect on the skin lesion, and two treatment sessions resulted in better effect than a single session.

CONCLUSIONALA-PDT can cure psoriasis vulgaris lesions characterized by abnormal epidermal proliferation in guinea pigs, and multiple treatment sessions can achieve better effects.

Acne Vulgaris ; drug therapy ; Aminolevulinic Acid ; therapeutic use ; Animals ; Guinea Pigs ; Photochemotherapy ; Photosensitizing Agents ; therapeutic use ; Psoriasis ; drug therapy

Objective:To explore the phenotype and molecular genetic features of spinocerebellar ataxia type 2 (SCA2) cases with ATXN2 intermediate-length CAG-repeat expansion.Methods:Fragment analysis by capillary electrophoresis was performed to detect the dynamic mutations in the samples of the probands in 1 383 pedigrees with autosomal dominant inherited ataxia in Research Center for Motor Disorders and Neurogenetic Diseases, Department of Neurology, China-Japan Friendship Hospital from 2005 to 2018. The clinical and genetic features of individuals carrying the ATXN2 intermediate-length CAG-repeat expansion were carefully analyzed.Results:Two hundred and three individuals (including the probands and members of their families) in 163 families carried the expanded CAG repeats in ATXN2 gene, among which 107 individuals in 93 families carried the intermediate-length CAG-repeats. Within 20 parent-child pairs, the CAG repeats increased 0-28 copies in 16 pairs with paternal inheritance, and 0-4 copies in 4 pairs with maternal inheritance.Conclusions:For suspected SCA2 cases, ATXN2 gene testing should be performed on the parental members and adult offspring members in the family. Dynamic mutations testing is essential to identify the individuals with ATXN2 intermediate-length repeat expansion, which is very important for genetic counseling.

OBJECTIVETo investigate the effect of amphotericinB (AmB) on migration and invasion of esophageal carcinoma Eca109 cells exposed to hypoxia and explore the molecular mechanisms.

METHODSRoutinely cultured esophageal carcinoma Eca109 cells were treated with 0, 1.25, 2.5, or 5 µg/ml AmB in hypoxic condition (3% O2, 5% CO2, and 92% N2) for 24 h. The cell migration and invasion were assessed by cell scratch test and Transwell chamber assay, respectively. Real-time quantitative PCR and Western blotting were used to detect the mRNA and protein expressions of hypoxia-inducible factor-1α (HIF-1α), matrix metalloproteinase-2 (MMP-2), and E-cadherin in the cells, respectively.

RESULTSCompared with the control cells, the cells treated with different doses of AmB showed attenuated ability of migration and invasion (P<0.05). AmB treatment resulted in significantly lowered mRNA and protein expressions of MMP-2 (P<0.05) and increased expressions of E-cadherin (P<0.05); the protein expression of HIF-1α decreased significantly in cells after AmB treatment (P<0.05) but its mRNA levels showed no significant changes (P>0.05).

CONCLUSIONAmB can suppress the migration and invasion of esophageal carcinoma Eca109 cells in hypoxic microenvironment possibly by regulating the expressions of HIF-1α, MMP-2 and E-cadherin.

Amphotericin B ; pharmacology ; Cadherins ; metabolism ; Cell Hypoxia ; Cell Line, Tumor ; drug effects ; Cell Movement ; drug effects ; Down-Regulation ; Esophageal Neoplasms ; metabolism ; pathology ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; metabolism ; Matrix Metalloproteinase 2 ; metabolism ; RNA, Messenger

OBJECTIVETo reveal the genetic characteristics of GII.12 Norovirus strains isolating from stool samples of adults with diarrhea in Beijing during 2008-2009.

METHODSRdRp, ORF2, ORF3 and ORF1/ORF2 overlap region were respectively amplified by primers using RT-PCR. The products were purified, cloned, sequenced and then aligned, phylogenetic and recombinant analyzed by softwares of DNAStar, MEGA and SimPlot.

RESULTSAccording to the phylogenetic analysis, 11 strains belonged to G II.g in the RdRp region,while GII.12 in the ORF2 and ORF3. SimPlot analysis further confirmed the 11 strains were recombinant strains ( G II.g [RdRp]/G II.12 [capsid]).

CONCLUSIONG II.12 Norovirus prevailing in Beijing and other regions of the world belonged to the same strain, and we identified the genetic characteristics of G II.12 Norovirus in Beijing.

China ; Norovirus ; classification ; genetics ; Phylogeny ; Recombination, Genetic ; Time Factors

OBJECTIVETo investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.

METHODSFragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.

RESULTSExpanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.

CONCLUSIONOnly three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; Brain ; pathology ; Child ; Child, Preschool ; China ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Myoclonic Epilepsies, Progressive ; diagnosis ; genetics ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Trinucleotide Repeats ; Young Adult

Adult ; Anticoagulants ; therapeutic use ; Combined Modality Therapy ; Female ; Heparin, Low-Molecular-Weight ; therapeutic use ; Hepatitis, Viral, Human ; therapy ; Humans ; Liver, Artificial ; Male ; Plasma Exchange