Deafness ; complications ; Humans ; Middle Aged ; Osteochondrodysplasias ; complications ; Rhinitis ; complications ; Sinusitis ; complications

OBJECTIVESince glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary hemolytic erythrocyte enzyme deficiency, most cases have single nucleotide mutations in the coding region, and current test methods for gene mutation have some missed detections, this study aimed to investigate the feasibility of RT-PCR sequencing in the detection of gene mutation in G6PD deficiency.

METHODSAccording to the G6PD/6GPD ratio, 195 children with anemia of unknown cause or who underwent physical examination between August 2013 and July 2014 were classified into G6PD-deficiency group with 130 children (G6PD/6GPD ratio <1.00) and control group with 65 children (G6PD/6GPD ratio≥1.00). The primer design and PCR amplification conditions were optimized, and RT-PCR sequencing was used to analyze the complete coding sequence and verify the genomic DNA sequence in the two groups.

RESULTSIn the G6PD-deficiency group, the detection rate of gene mutation was 100% and 13 missense mutations were detected, including one new mutation. In the control group, no missense mutation was detected in 28 boys; 13 heterozygous missense mutations, 1 homozygous same-sense mutation (C1191T) which had not been reported in China and abroad, and 14 single nucleotide polymorphisms of C1311T were detected in 37 girls. The control group showed a high rate of missed detection of G6PD deficiency (carriers) in the specimens from girls (35%, 13/37).

CONCLUSIONSRT-PCR sequencing has a high detection rate of G6PD gene mutation and a certain value in clinical diagnosis of G6PD deficiency.

Adolescent ; Child ; Child, Preschool ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; genetics ; Humans ; Infant ; Male ; Mutation ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

ObjectiveTo study the clinical features, arterial involvement, therapeutic strategies and outcomes of Takayasu arteritis (TA). MethodsThe clinical symptoms, arterial images, inflammatory parameters and follow-up information of 173 patients with TA were retrospectively studied. Comparisons between groups were performed by t-test. ResultsThere were 136 female and 37 male patients in this study. The mean age at onset was(26±11 ) years. Hypertension, pulse deficit or asymmetrical pulse, and fever were present in 46.6％, 41.1％, 28.7％ of patients, respectively. The distribution of arterial involvement were 64.7％in aorta, 9.8％ in pulmonary artery, 19.1％ in innominate artery, 65.9％ in common carotid arteries, 65.3％in the subclavian artery, 36.2％ in the renal artery, 12.1％ in the vertebral artery, and 5.8％ in coeliac axis.Elevated erythrocyte sedimentation rate(ESR) was found in 61.0％ patients. Active tuberculosis or history of tuberculosis was implicated in 45 patients(26.0％). Ten patients(5.8％) were hepatitis B virus carriers.Among 105 followed-up patients, 98 patients(94.2％) achieved persistent remission, 17 patients relapsed when corticosteroids were tapered. ConclusionCorticosteroids combined with or steroid alone, supplemented with endovascular intervention procedures or surgical bypass procedures when necessary, can effectively control the clinical symptoms and inflammatory parameters and improve the quality of life of patients.

Glioblastoma is a malignant tumor in central nervous system, which has strong invasion, poor prognosis and short survival time. At present, the main treatment strategy of glioblastoma is surgical excision, supplemented by radiotherapy and chemotherapy. However, due to incomplete resection and high recurrence rate, it is urgent to find novel therapeutic method for glioblastoma. Photodynamic therapy, as a promising non-surgical treatment, provides a new strategy for postoperative adjuvant therapy of glioblastoma. This review summarizes the mechanism and clinical application of photodynamic therapy mediated by various photosensitizers in glioblastoma, in order to provide help for the treatment of glioblastoma.

Background More and more attentions are paid to the effect of matrix metalloproteinases (MMPs) in the process of wound healing after excimer laser.Objective The present study was to investigate the effects of GM6001,a matrix metalloproteinases inhibitor,on haze formation after excimer laser epithelial keratomileusis (LASIK).Methods LASEK of -10.00 diopter was bilaterally performed on 27 New Zealand white rabbits and then divided randomly into the GM6001 group,Fluorometholone (FML) group and normal control group.Corneal haze was graded under dim light at 2 weeks,4 weeks and 8 weeks after operation,and the number of eyes in different grades of haze were compared among the three groups.Six corneal samples were harvested in each group for confocal microscope examination at 2,4,8 weeks.The corneal histopathological examination was carried out with the optical microscope,and the ultrastructure of the cornea was examined under the transmission electron microscope.Results The numbers of eyes of different corneal grades of haze at 2,4 or 8 weeks after surgery were significantly different among the three groups (P＜0.05).Compared with the normal control group,the corneal haze grades in the GM6001 group and FML group were apparently lower (P＜0.01),but there was no significant difference in the numbers of eyes of different corneal grades of haze between the GM6001 group and FML group (P＞0.01).The numbers of keratocytes in the GM6001 group were apparently lower than those in the normal control group and FML group in 2,4 or 8 weeks after operation (P＜0.05).No significant difference in the keratocytes was seen between the normal control group and FML group at various time points (P＞0.05).Corneal epithelial cell morphology,disordered arrangement of collagen fibers in GM6001 group and in FML group were less pronounced than in the negative control group.Conclusion GM6001 has an inhibitory effect on the formation of corneal haze after LASEK which suppresses proliferation and production of keratocytye with the similar efficacy as FML.

AIM:To investigate the effects of 1.8mm coaxial micro incision phacoemulsification on corneal endothelial injury and postoperative visual acuity.METHODS: Totally 145 eyes in 120 patients underwent phacoemulsification from July 2013 to July 2015 were randomly divided into observation group 60 cases (73 eyes) and control group 60 cases (72 eyes).The observation group 60 cases were given 1.8mm coaxial micro incision cataract phacoemulsification operation,while the control group were given traditional 3.2mm coaxial micro incision cataract surgery.The uncorrected visual acuity (UCVA),best corrected visual acuity (BCVA),corneal thickness of incision area,incision width,incision length,macular retinal thickness,surgically induced astigmatism,corneal endothelial cell counts and complications of the two groups were compared.RESULTS: The UCVA and BCVA on 1wk after surgery of the observation group were significantly higher than the control group (t=3.604,7.109;P<0.05);the width of incision on 1wk and 1mo after surgery of the observation group were significantly less than the control group (t=205.3,225.2;P<0.05).The length of incision in observation group was significantly greater than the control group (t=3.926,5.009;P<0.05).Macular retinal thickness 1wk after surgery of the observation group was significantly less than the control group (t=2.817,P<0.05).The surgically induced astigmatism was significantly less than the control group (t=19.43,22.16;P<0.01);the difference of corneal edema between the two groups was not significant (8.22% vs 11.11%) (x2=0.348,P>0.05).CONCLUSION: The 1.8mm micro incision phacoemulsification is helpful to improve the visual acuity of patients with cataract phacoemulsification,which may be related to the reduction of corneal cell injury,enhancement of corneal closure and decrease post-operation corneal original astigmatism.

Diagnosis, Differential ; Humans ; Infant ; Male ; Neuroectodermal Tumors, Primitive ; pathology ; Orbital Neoplasms ; pathology

OBJECTIVETo investigate the immunological activity of Streptomyces polysaccharide (SMP) on normal and immunosuppressed mice.

METHODSThe effect of SMP on the proliferating activity of normal mouse splenocytes was tested in the mixed lymphocyte culture, and the changes of peripheral blood T lymphocytes were evaluated with acid a-naphthyl acetate esterase (ANAE) method. The ratio of Lyt2+ and L3T4+ T cell subsets was measured by flow cytometry.

RESULTSSMP stimulated obvious proliferation of mixed lymphocytes, showed protective effects on T lymphocyte and increased the ratio of Lyt2+ and L3T4+ cell subsets to nearly normal level in immunosuppressed mice.

CONCLUSIONSSMP can regulate the immune function in mice.

Animals ; CD4-Positive T-Lymphocytes ; immunology ; Female ; Immunocompromised Host ; immunology ; Lymphocyte Culture Test, Mixed ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Polysaccharides ; immunology ; Spleen ; cytology ; Streptomyces ; chemistry ; immunology ; T-Lymphocytes ; cytology ; immunology

Chlorogenic acid displays several important roles in the therapeutic properties of many herbs, such as antioxidant activity, antibacterial, antiviral, scavenging free radicals and exciting central nervous system. Only about one-third of chlorogenic acid was absorbed in its prototype, therefore, its gut metabolites play a more important role in the therapeutic properties of chlorogenic acid. It is necessary to consider not only the bioactivities of chlorogenic acid but also its gut metabolites. This review focuses on the potential activities and mechanisms of chlorogenic acid and its gut metabolites on central nervous system diseases.
Animals ; Central Nervous System Diseases ; drug therapy ; metabolism ; Chlorogenic Acid ; administration & dosage ; metabolism ; Humans ; Intestines ; drug effects ; metabolism

Adult ; Carcinogens ; Epoxy Compounds ; poisoning ; Female ; Humans ; Lymphocytes ; drug effects ; metabolism ; Male ; Multivariate Analysis ; Mutation ; drug effects ; Occupational Exposure ; analysis ; Regression Analysis ; Sister Chromatid Exchange ; drug effects