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| 1 | Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene显示文摘Mucopolysaccharidosis type II(MPS II)is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase(IDS)gene.In this study,IDS activity in peripheral mononuclear blood monocytes(PMBCs)was measured with a fluorimetric enzyme assay.Urinary glycosaminoglycans(GAGs)were quantified using a colorimetric assay.All IDS exons and intronic flanks were bidirectionally sequenced.A total of 15 mutations(all exonic region)were found in 17 MPS II patients.In this cohort of MPS II patients,all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions.Mutations p.Arg88His and p.Arg172*occurred twice.All mutations were inherited except for p.Gly489Alafs*7,a germline mutation.We found four new mutations(p.Ser142Phe,p.Arg233Gly,p.Glu430*,and p.Ile360Tyrfs*31).In Epstein-Barr virus(EBV)-immortalized PMBCs derived from the MPS II patients,no IDS protein was detected in case of the p.Ser142Phe and p.Ile360Tyrfs*31 mutants.For p.Arg233Gly and p.Glu430*,we observed a residual expression of IDS.The p.Arg233Gly and p.Glu430*mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold,respectively,compared with healthy controls.This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation. | Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill V.Savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove | 2014 | Journal of Genetics and Genomics2014，41，4： | 2 |
| 2 | Childhood trauma in victims of the Armenian earthquake显示文摘 | Anait Azarian Ph.D. Vitali Skriptchenko-Gregorian Ph.D. Thomas W. Miller Ph.D. Robert F. Kraus M.D | 1994 | Journal of Contemporary Psychotherapy1994，，2： | 1 |
| 3 | Cloning and expression of the genes involved in the production of and immunity against the bacteriocin lacticin RM显示文摘 | Merav Yarmus Anait Mett Roni Shapira | 2000 | BBA - Gene Structure and Expression2000，，3： | 1 |
| 4 | Iron dysregulation in Alzheimer's disease: Multimodal brain permeable iron chelating drugs, possessing neuroprotective-neurorescue and amyloid precursor protein-processing regulatory activities as therapeutic agents 显示文摘 | Mandel S Anait T Bar-Am O | 2007 | Prog Neurobiol2007，82，6： | 1 |
| 5 | Combination of resveratml and antiandmgen flu- tamide has synergistic effect on androgen receptor inhibition in pros- tate cancer cells显示文摘 | Li K Anait S | 2011 | Anticancer Res2011，31，10： | 1 |
| 6 | Ocular flora in patients undergoing intravitreal injections: antibiotic resistance patterns and susceptibility to antiseptic picloxydine显示文摘AIM: To study antibiotic resistance patterns and susceptibility to eye antiseptic picloxydine of conjunctival flora in patients undergoing intravitreal injections(IVIs).METHODS: Conjunctival swabs were taken in 4 groups of patients, 20 patients in each group(n=80): without IVIs and ophthalmic operations in history(group N1;control group);with the first IVI and antibiotic eye drops Tobrex applied 3 d before IVI and 5 d after it(group N2);with 20 or more IVIs and repeated courses of antibiotic eye drops(group N3);with the first IVI and antiseptic eye drops Vitabact(picloxydine) applied 3 d before IVI and 5 d after it(group N4). In groups N2 and N4 swabs were taken at baseline and after the treatment. Efficacy of picloxydine in inhibition of growth of conjunctival isolates susceptible and resistant to antibiotic was studied in vitro. Minimal inhibition concentrations(MIC) were determined with microdilution test.RESULTS: Two of the three patients who had to undergo the IVI procedure showed conjunctiva bacterial contamination. Along with few Staphylococcus aureus and Gram-negative isolates susceptible to most antibiotics, the majority(71%-77%) of causative agents were coagulase-negative Staphylococci(Co NS), 40%-50% of which were multidrug resistant(MDR). Eye disinfection in the operating room and peri-injection courses of Tobrex or Vitabact resulted in total elimination of isolates found at baseline. However, in 10% and 20% of patients, respectively, recolonization of the conjunctiva with differing strains occurred. In patients with repeated IVI and Tobrex/Maxitrol treatment, the conjunctival flora showed high resistance rates: 90% of Co NS were MDR. In the in vitro study, picloxydine showed bactericidal effect against Staphylococci isolates both antibiotic resistant and susceptible with MIC≥13.56 μg/m L. Incubation of bacteria for 15 min in Vitabact eye drops, commercially available form of picloxydine, 434 μg/m L, showed total loss of colony forming units of all tested isolates including Pseudomonas aeruginosa. CONCLUSION: The confirmed efficacy of eye antiseptic picloxydine against conjunctival bacterial isolates and the presence of its commercial form, 0.05% eye drops, convenient for use by patients before and after injection, make this eye antiseptic promising for prophylaxis of IVIassociated infectious complications. | Maria V.Budzinskaya Anait S.Khalatyan Marina G.Strakhovskaya Vladimir G.Zhukhovitsky | 2020 | International Journal of Ophthalmology(English edition)2020，13，1： | 0 |
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