Objective To study the clinical characteristics and the effect of enzyme replacement therapy for late-onset glycogen storage disease typeⅡ(GSDⅡ). Methods The clinical, laboratory data and the result of genetic testing were retrospectively analyzed in a GSDⅡchild, the effect of enzyme replacement therapy was followed up and the relevant literature was reviewed. Results The patient had motor regression after 1 year old, the serum creatine kinase level is from 675 to 1286 U/L. The EMG test showed myopathic change, acid alpha-glucosidase activity is 12.0 nmol/(g·min), next generation sequencing of genetic muscle diseases panel found the GAA compound heterozygous mutations, both were tiny variations, and muscle biopsies showed the typical pathological features of GSD. The patient was given human recombinant of alpha glucoside enzyme 20 mg per kilogram of body weight, once every other week for 1 year. The weakness of the patient’s muscle strength had no obvious aggravation. Conclusions Early and adequate enzyme replacement therapy is the only possible treatment for GSDⅡ.

Castleman Disease ; Humans ; Male ; Middle Aged ; Neck ; Young Adult

DMD/BMD is a X-linked recessive hereditary disease.It predominantly affects males.While female carriers do not have symptoms,due to their inactive X chromosome make it present mosaic.Recently,more and more papers reported that a clinically significant proportion of DMD/BMD female carriers have symptoms.They presented variable degrees of symptoms.But the mechanism of the pathogencity is still not clear.Most of the research considered that the dominating reason is the skewed X inactivation.It means that the predominant expression of the DMD mutant allele make the normal one have weak expression,thus no function dystrophin proteins could be generate,manifested as DMD/BMD.In this paper,we mainly summarized the relationship between skewed X inactivation and pathogenicity of the symptomatic DMD female carriers.

Objective To assess the association of three polymorphisms in Megsin (rs1055901,rs1055902 and rs2689399) and susceptibility of IgA nephropathy in Asian population.Methods We conducted a comprehensive search of electronic CNKI,VIP,WangFang Data,CBM,Pubmed,Web of Science and Google Scholar database on the association between Megsin rs1055901,rs1055902 and rs2689399 polymorphism and susceptibility of IgA nephrology in Asian population (last search update on 2 May 2016).Stata 12.0 software was used to calculate the odds ratio (OR) and 95 ％ CI (confidence interval),as well as sensitivity and publication bias analyses.Results Six publications encompassing mine case-control studies were finally included,including 2 179 cases and 1 769 controls.Finally,no significant association between Megsin rs1055901 and rs1055902 polymorphism and IgA nephrology in Asian population was identified,while a significantly decreased risk of IgA nephrology for rs2689399 polymorphism,was identified in Asian population (G and C:OR=0.754,95％CI 0.592-0.961,P=0.022;GG and CC:OR=0.506,95％CI 0.287-0.892,P=0.019;GG and GC+CC:OR=0.551,95％CI 0.316-0.961,P=0.036).Conclusion Rs2689399 G allele and GG genotype of Megsin may be the protective factors for IgA nephropathy in Asian population.

BACKGROUND: Biomechanical mechanisms are complex, and previous studiers focus on the stress conduction in the carpus. However, the stress distribution and characteristics of trabecula in the carpus are rarely reported.OBJECTIVE: To investigate the stress distribution and deformation characteristics of the normal lunate through a two-dimensional sagittal finite element model.METHODS: A normal cadaveric lunate sample was scanned with Micro-CT and the central sagittal image was chosen for further finite element analysis (FEA). The chosen image was processed and imported into the finite element analysis software (Ansys 14.0). A two-dimensional sagittal finite element model of the lunate bone was established. Axial pressure was applied to the model with the wrist held in different positions, and nine regions of interests (ROIs) were identified, for which stress and displacement nephograms were created. These included the first principal stress (S1, the maximum stress in a principal plane), the third principal stress (S3, the minimal stress in a principal plane), shear stress (SXY, the component of stress coplanar with a material cross section), von Mises stress (SEQV, yielding begins when the elastic energy of distortion reaches a critical value)and displacement of each ROI (UY, displacement on the vertical plane of the lunate) which were calculated and compared.RESULTS AND CONCLUSION: (1) The stresses on ROIs located in the proximal and volar cortices of the lunate bone were much higher than those in the distal and dorsal cortices. At the proximal lunate, S1 was less than S3; however at the distal lunate, S1 was greater than S3. The ROIs of the distal and proximal ends of the lunate bone received much higher stress than the ROIs of the middle part. As for axial trabecular displacement,both distal and proximal ROIs were compressed by axial pressure. However, the dorsal and the volar parts of the proximal lunate moved in different directions at different wrist postures. Besides, the stress values and magnitudes of displacement were elevated in wrist flexion and extension compared to neutral position.Furthermore, the stress concentration zones (the proximal volar ROI, the proximal dorsal ROI, the distal volar ROI, and the distal dorsal ROI) had different directions of shear stress and displacement in different wrist postures. (2) These results suggest that when stress is loaded on a normal lunate model, four stress concentration zones, the proximal volar ROI, the proximal dorsal ROI, the distal volar ROI, and the distal dorsal ROI are found. The wrist postures can significantly affect the value and distribution of axial stress on the sagittal lunate.

AIM: To study in vivo the effect of androgen on mice tear film stability and Mucins expressions in corneal epithelial cells in BALB/ c mice after orchectomy.
METHODS: With orchiectomy operation, we set up mice model. And serum androgen concentration of mice was detected by radioimmunoassay. Break - up time ( BUT ) of tear film was tested in the different experimental points. Mice corneal epithelia were peeled and MUC1 and MUC4 mRNA and protein levels were measured by RT-PCR and Western blot.
RESULTS: The serum androgen concentration reduced to 0ng/ μ L at 1wk after orchiectomy. The BUT values were 68. 33±12. 86s, 62. 47±3. 75s, 58. 67± 10. 03s, 47. 17±7. 64s, 39. 51±3. 39s, 32. 67±3. 88s and 31. 00±2. 36s in the normal control group, sham group and in orchectomy group at 1, 2, 4, 6 and 8wk, respectively, and the BUTs were significantly shorter in the orchectomy at 2, 4, 6 and 8wk groups than those in the normal control group (all at P< 0. 05). MUC1 and MUC4 mRNA and proteins levels decreased with androgen level lowering (P<0. 05). Mucin1 level was the lowest at 2wk after orchiectomy, and the lowest Mucin4 level was found at 1wk after orchiectomy.
CONCLUSION: In vivo, androgen regulates Mucins expressions in mice corneal epithelial cells, makes BUT shorter,and influence the stability of tear film.

Objective To investigate the relationships of suicide risk and its associated risk factors in adult patients with epilepsy.Methods All 211 adult patients with epilepsy from the epilepsy clinic of the Second Affiliated Hospital,Zhejiang University School of Medicine,were enrolled to evaluate the presence of suicide risk and depressive disorder by using the suicide module and the depressive disorder module of the Mini International Neuropsychiatric Interview (MINI).Demographic variables for age,gender,employment status,marital status,years of education,and seizure factors for age of onset,types of seizure,seizure frequency and epilepsy duration,result of MRI and types of antiepileptic drugs were also recorded.We compared the differences of risk factors between the two groups with or without suicide risk and investigated the relationships between the depressive disorder and suicide risk.Results The suicide risk of the patients was 21.3％ (45/211),and 17.1％ (36/211) of the patients had depressive disorder.The suicide risk of the epilepsy patients associated with depressive disorder was 75.0％ (27/36),and the suicide risk of the epilepsy patients associated with no depressive disorder was 10.3％ (18/175).There was statistical difference between the two groups (x2 =74.525,P ＜ 0.01).About 60.0％ (27/45) of the patients with suicide risk was accompanied with depressive disorder.As suicide risk increased,the proportion of concurrent depressive disorder elevated.There was significant statistical difference in the rates of depressive disorder among the different suicide risk groups.Conclusions The patients with epilepsy have suicide risk.The suicide risk is higher in patients with depressive disorder.

Objective To describe and analyze the status quo of the doctor and nurse configuration in Heilongjiang Province,and to study their cultivation condition while predicting the number of medical staff.Methods Through the health workforce database of Heilongjiang Province in 2014,using Excel 2007 statistical software,the status quo of doctor and nurse configuration was analyzed.The grey prediction model was also used to analyze the number of medical staff in Heilongjiang province from 2004 to 2014,and the number of medical staff in Heilongjiang province from 2016 to 2018 was predicted.Results Up to 2015,the number of doctors and nurses in Heilongjiang Province accounted for 0.42％ of the total population,composed of mainly young and middle-aged staff and mostly with bachelor's degree and junior college certificate.Doctor-to-nurse ratio was 1:0.96.The grey prediction model indicated that the number of medical staff in Heilongjiang Province would increase year by year,and the inversion of doctor-to-nurse ratio would be eased.Conclusion The reform and development of medical education in Heilongjiang Province has promoted the optimization of the professional title structure and educational structure.It is expected that by 2016 Heilongjiang medical care ratio inversion problem will be completely resolved.

Saccharmyces cerevisiae 220 has certain resistance to Pb2+ was found through the test of it's cultured on media containing lead cation. Sacchannyces cerevisiae 220 cultured was put into the media cotaining lead cation and it's biosorp-tion to lead cation was studied. The results show this strain has maximum biosorption ratio (96.6%) to 6mg/L lead cation, biosorption-equilibrilium period is 25-30min, biosorption kinitics equation is q-26.318C/ (1 + 0.437C) . Acetic acid is benefit to de-biosorption, glucose and KH2PO4 can improve biosorption ratio to lead cation.

OBJECTIVE: To establish a multiplex STR genotyping method for autosomal STR and Y-STR loci in forensic biological practice. METHODS: Widely used autosomal STR loci and Y-STR loci were selected. A set of PCR primers was designed, and a 5-dye fluorescent labeled STR multiplex PCR reagent kit was developed. RESULTS: A kit was developed which can simultaneously detect 15 autosomal STR loci, 10 Y-STR loci, and an Amelogenin. CONCLUSION The 15 autosomal STR plus 10 Y-STR kit in combination with capillary electrophoresis method was used to STR genotyping with accurate and reliable results. The new one-step testing kit can potentially be widely used in forensic cases and DNA databank in the future.
Amelogenin ; Chromosomes, Human, Y/genetics* ; DNA Primers ; Databases, Nucleic Acid ; Forensic Genetics/methods* ; Genotype ; Genotyping Techniques/instrumentation* ; Humans ; Indicators and Reagents ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction