OBJECTIVETo identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA).

METHODSPolymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC. Novel mutations were screened in 100 unrelated persons with normal phenotypes to exclude the possibility of polymorphism.

RESULTSTwo mutations were detected in the P gene of the three patients and none in TYR gene. Heterozygous mutation of T450M in exon 13 of the P gene was detected in patient 1. Patient 2 had a heterozygous mutation of T450M in exon 13 and a heterozygous mutation of G775R in exon 23 of the P gene. Patient 3 had a heterozygous mutation of G775R as well. Restriction endonuclease analysis of the P gene exon 13 showed that the Oli I site had partly disappeared resulting from the heterozygous mutation T450M in patient 1 and patient 2, but not in 100 unrelated individuals. The heterozygous mutation T450M is a novel mutation.

CONCLUSIONGene diagnosis of OCA can be carried out effectively by combining PCR, DHPLC, DNA sequencing and restriction endonuclease analysis.

Albinism, Oculocutaneous ; genetics ; Base Sequence ; Catechol Oxidase ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Hermanski-Pudlak Syndrome ; genetics ; Humans ; Monophenol Monooxygenase ; genetics ; Mutation ; Young Adult

Objective To investigate the differences in the clinical symptoms and magnetic resonance imaging (MPd) findings of the spinal cord lesions between patients with neuromyelitis optica (NMO) and multiple sclerosis (MS) and explore the mechanisms that result in these differences. Methods The clinical symptoms and MRI findings of the spinal cord were retrospectively analyzed in 21 MS patients and 23 NMO patients admitted in the Third Affiliated Hospital of Sun Yat-Sen University from January, 2004 to January, 2007. Results Female patients were more frequently affected by NMO, and the NMO patients had a older mean age at onset with higher Expanded Disability Status Scale (EDSS) score than the MS patients. Chi-square test showed significant differences in the rotes of bilateral deep sensory dysfunction, zonesthesia, and sphincter disturbance between the NMO and MS patients (P<0.05). The majority of these clinical symptoms were found to result form corresponding spinal cord lesions defined by MRI. Conclusion NMO is a demyelinating disease that represents an independent clinical entity from MS, and has special mechanisms responsible for its characteristic clinical symptoms and MRI findings of the spinal cord.

OBJECTIVETo explore the inhibitory effects of Niaoluqing, an oral liquid of traditional Chinese medicine, on the growth of urogenital chlamydia trachomatis (Ct).

METHODSNiaoluqing's applying concentration was 1 g/ml and 10 serologically untyped strains of Ct from the STD clinic were used. And the inhibitory effects of Niaoluqing on Ct was evaluated by McCoy cell microculture technique in vitro.

RESULTSNiaoluqing had inhibitory activity for urogenital Ct, and was capable of reducing inclusion numbers notably in the concentrations of 50 to 200 mg/ml. The number and volume of Ct inclusions reduced gradually and disappeared finally with the rising of the medicinal concentration.

CONCLUSIONThe traditional Chinese medicine Niaoluqing has inhibitory effects on the growth of urogenital Ct.

Chlamydia trachomatis ; drug effects ; isolation & purification ; Dose-Response Relationship, Drug ; Drugs, Chinese Herbal ; pharmacology ; Female ; Humans ; Male ; Microbial Sensitivity Tests ; Urogenital System ; microbiology

OBJECTIVETo investigate the inhibitory effect of arresten on the growth of SGC-7901 tumor xenograft nude mice model with the localized expression of arresten.

METHODSThe secretable eukaryotic expression vector pcDNA3.1 (+)-ss-arresten was constructed by molecular clone strategy, and then was transfected into human gastric cancer cell line SGC-7901 using liposome. The Western blot method was used to examine whether the protein was secreted into cell medium, and the biological behaviors of genetically modified SGC-7901 cell clone was further investigated with MTT and flow cytometry analysis system (FCAS). At last, the SGC-7901 cells expressing arresten were implanted subcutaneously into nude mice, and the weights of tumor xenografts were recorded and analyzed.

RESULTSThe eukaryotic expression vector containing secretable arresten cDNA was constructed successfully. The SGC-7901 cell line with the character of expression of arresten was obtained. The growth of arresten cDNA genetic-modified SGC-7901 tumor xenograft was suppressed.

CONCLUSIONSThe anti-tumor effect of arresten in the SGC-7901 xenograft is by inhibition of the proliferation of vascular endothelial cell of the tumor.

Angiogenesis Inhibitors ; biosynthesis ; genetics ; Animals ; Cell Proliferation ; Genetic Therapy ; Humans ; Mice ; Mice, Nude ; Neoplasm Transplantation ; Stomach Neoplasms ; pathology ; therapy ; Transfection ; Tumor Cells, Cultured

OBJECTIVESTo study the antibacterial effect of Niaoluqing Oral Liquid (NOL) on clinical drug-resistant strains and 14 serotype strains Ureaplasma Urealyticum (UU).

METHODSSixty-three clinical strains of UU were detected to determine their serology and antibiotic susceptibilities by the metabolic inhibition test (MIT). Mininum inhibitory concentration (MIC) was used to evaluate the sensitivity of NOL to different serotypes of UU. The sensitivity of NOL, erythromycin and tetracycline to 63 clinical strains of UU was also studied.

RESULTSIn 63 clinical strains of UU, the range of MIC to NOL was from 0.48 mg/ml to 15.63 mg/ml, MIC50 < or = 1.95 mg/ml, MIC90 < or = 3.91 mg/ml. Among them, 31 strains were resistant to tetracycline and 31 were resistant to erythromycin. No obvious correlation between the sensitivity of NOL to UU clinical strains and that of erythromycin and tetracycline to UU clinical strains (P > 0.05). Clinical strains of UU in this experiment contains all of its serotypes, also having a higher sensitivity to NOL (MIC < or = 3.91 mg/ml) except serology 1, 2, 3 and 11 (MIC > or = 7.81 mg/ml).

CONCLUSIONSNOL exerts a strong in vitro antibacterial effect on erythromycin-resistant and tetracycline-resistant clinical strains of UU. All kinds of serotype strains had a higher sensitivity to NOL, too. Chinese medicinal herbs are of momentous significance in the treatment of UU infection.

Anti-Bacterial Agents ; pharmacology ; Drugs, Chinese Herbal ; pharmacology ; Humans ; Microbial Sensitivity Tests ; Ureaplasma urealyticum ; drug effects ; isolation & purification

BACKGROUNDThe aim of this research was to evaluate the feasibility and efficacy of absorbable bandage wrapping in the treatment of cases of severe liver trauma.

METHODSElectric firecrackers were detonated in 16 miniature swine to produce a severe blast liver injury. After fluid resuscitation, the animals were randomly divided into two groups (n = 8 each) and were either treated with absorbable bandage wrapping of the injured lobe of liver (Group B) or hepatic lobectomy (Group H). Time to hemostasis, blood loss during the treatment period, and other parameters were compared, including postoperative serum total bilirubin (TB), alanine aminotransferase (ALT), and aspartate aminotransferase (AST).

RESULTSBlood loss during the treatment period was significantly lower in Group B than that in Group H ((81.3 ± 26.0) ml vs. (130.8 ± 29.5) ml, P = 0.0031). Serum AST and ALT were transiently increased post-surgically. These transient increases were significantly higher in Group B. No difference in time to hemostasis was noted ((8.70 ± 2.27) minutes vs. (10.28 ± 1.93) minutes, P = 0.1559) in Groups B and H, respectively. Two pigs were humanely euthanized 28 days post-surgically and the wrapped liver lobes appeared atrophies. Microscopically, there was evidence of emerging and mature fibrous tissue.

CONCLUSIONAbsorbable bandage wrapping is both feasible and effective in the treatment of severe blast liver injury.

Animals ; Bandages ; Female ; Liver ; injuries ; surgery ; Male ; Swine ; Swine, Miniature

Objective To analyze the general characteristics of suicide in patients with mental illness,to discuss the characteristics of suicide death,and to provide reference for the social intervention of suicide in the early stages.Methods We collected the suicide cases of 438 patients with mental illness in Shanghai Pudong New Area from 2007 to 2016,and analyzed their sex,age,way of death and cause of death.Results In these 438 cases of suicide,women were significantly more than men.The age mainly distributed between 30 and 70 years old,and the highest of incidence rate occurred between 60 and 70 years old.Among these patients,the youngest one was 11 years old,and the oldest one was 93 years old.Depression (48.2％) was the leading cause for suicide,followed by schizophrenia (16.7％),paranoia (1.6％) and anxiety (0.9％).Jumping from height (43.6％) and hanging (31.5％) were the most common ways of suicide.There was pre-signal (suicide notes,expression of suicidal and suicidal history) in 47 cases.Conclusions Mental disorders,especially depression,has become an indispensable fator in the suicide people.We should pay enough attention to early intervention and treatment in order to avoid tragedy again.

OBJECTIVETo investigate the changes of serum reproductive hormones with male aging and to compare the differences in the hormone levels among different age groups or between township and rural males of the same age group.

METHODSUsing cluster and stratified sampling, we recruited 434 healthy old and middle-aged (40-69 years) males, 198 from the township and 236 from the rural communities. We determined the concentrations of serum total testosterone (tT), luteinizing hormone (LH) and sex hormone binding globulin (SHBG), free testosterone (fT), bio-available testosterone (Bio-T), and obtained the testosterone secretion index (TSI) and free testosterone index (fTI). Meanwhile, we included fifty-nine 20-39 years old males from the same communities in a control group.

RESULTSWith the increase of age, the serum tT levels did not change significantly, while the levels of serum LH and SHBG increased, and those of fT, Bio-T, TSI and fTI decreased gradually. Statistically significant differences were found among the four different age groups in all the parameters of reproductive hormones (P < 0.01), except in the serum tT level (P > 0.05). The serum tT level was not significantly correlated with aging and LH (P > 0.05). Serum LH and SHBG had a marked positive correlation with aging, and SHBG with LH (P < 0.01), while fT, Bio-T, TSI and fTI were negatively correlated with aging and the LH level (P < 0.01). Serum LH, TSI and fTI showed statistical differences (P < 0.05), while fT and Bio-T exhibited extremely significant differences (P < 0.01) between the township and rural males in the 40 -49 yr group, and in the same age group, the increase rates of serum LH and SHBG and reduction rates of fT, Bio-T, TSI and fTI were higher in the rural men than in the township residents. However, the results were just the opposite in the 50 - 59 and 60 - 69 yr groups.

CONCLUSIONThe levels of serum LH, SHBG, fT, Bio-T, TSI and fTI changed with aging in a gradientmanner in the old and middle-aged males, but no significant changes were observed in the level of serum tT. There were statistical differences in many parameters of serum reproductive hormones among different age groups or between township and rural males.

Adult ; Age Factors ; Aged ; Aging ; metabolism ; China ; Humans ; Luteinizing Hormone ; blood ; Male ; Middle Aged ; Rural Population ; Serum Albumin ; metabolism ; Sex Hormone-Binding Globulin ; metabolism ; Testosterone ; blood ; Urban Population ; Young Adult

OBJECTIVETo evaluate the outcomes of selective anterior thoracolumbar or lumbar (TL/L) fusion for adolescent idiopathic scoliosis (AIS) with PUMCIId1 curves (Lenke type 5).

METHODSThirty-five consecutive AIS patients (PUMC type IId1, Lenke type 5) with selective anterior TL/L fusion with single solid rod instrumentation were reviewed. The average follow-up was 36 months (range, 18 - 42 months). Standing anteroposterior and lateral radiographs were measured and analyzed.

RESULTSThe average preoperative Cobb angle of the TL/L curves was 45.6 degrees and corrected to 9.7 degrees postoperatively, with 79.7% curve correction. The thoracic curves decreased from 29.7 degrees preoperatively to 17.6 degrees postoperatively, with a spontaneous correction of 41.5%. There was an average 4.7 degrees and 2.5 degrees correction loss of the TL/L and the thoracic curves at the final follow-up respectively. Trunk shift deteriorated slightly from 14.0 mm preoperatively to 14.8 mm postoperatively, and improved significantly to 5.1 mm at the final follow-up. The lowest instrumented vertebra (LIV) tilt was significantly improved after surgery (from -21.8 degrees preoperatively to -1.5 degrees postoperatively) and well maintained at the final follow-up (-2.1 degrees). The coronal disc angle immediately above the upper instrumented vertebra (UIVDA) and below the LIV (LIVDA) averaged 0.5 degrees and 0.6 degrees respectively, and aggravated after surgery (0.9 degrees and 4.9 degrees, respectively). Both the UIVDA and LIVDA were significantly aggravated at the final follow-up (3.0 degrees and 7.8 degrees, respectively). The sagittal contours of T(5-12) and T(10)-L(2) were well maintained after surgery and at the final follow-up. The lumbar lordosis of L(1)-S(1) and the sagittal Cobb angle of the instrumented segments were reduced postoperatively and at the final follow-up. No pseudarthrosis or other complications were observed.

CONCLUSIONSelective anterior TL/L fusion with single solid rod instrumentation is effective and safe for AIS with PUMCIId1 (Lenke type 5) curves, above and below the fusion and larger residual thoracic curve in some cases need further evaluated.

Adolescent ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Retrospective Studies ; Scoliosis ; surgery ; Spinal Fusion ; methods ; Treatment Outcome

OBJECTIVETo investigate the anti-inflammatory effect of bone marrow stromal cells (MSCs) transfected with recombinant adenovirus-mediated ciliary neurotrophic factor (CNTF) gene in C57BL/6 mice with experimental allergic encephalomyelitis (EAE).

METHODSAn adenovirus vector containing CNTF gene Ad-CNTF-IRES-GFP was constructed and transfected in the MSCs (MSC-CNTF). After examination of CNTF expression, the transfected cells were transplanted in C57BL/6 mice with MOG 35-55-induced EAE, which were monitored for the changes in the symptoms scores. The levels of tumor necrosis factor-alpha (TNF-alpha), inteferon-gamma (IFN-gamma), interleukin-12P35 (IL-12P35), and IL-10 in the peripheral blood of the mice were detected, and the number of MSC-CNTF cells in the spleen and spinal cord was counted. CD3+ T cell infiltration and TNF-alpha and IFN-gamma expressions in the lesions were also observed after the cell transplantation.

RESULTSCNTF gene transfection resulted in significantly increased CNTF expression in the MSCs. The mice receiving MSC-CNTF transplantation exhibited significantly improved symptoms with shortened disease course and lessened disease severity. The cell transplantation also resulted in significantly decreased peripheral blood TNF-alpha levels, ameliorated CD3+T cell infiltrations and lowered TNF-alpha expression in the lesions, while the levels of IFN-gamma underwent no significant changes.

CONCLUSIONTransplantation of CNTF gene-transfected MSCs results in decreased peripheral blood TNF-alpha and IFN-gamma levels and reduced inflammatory cells, CD3-positive cells and TNF-alpha expression in the lesion of EAE, therefore providing better effect than MSCs in relieving the symptoms of EAE in mice.

Adenoviridae ; genetics ; metabolism ; Animals ; Bone Marrow Cells ; metabolism ; Ciliary Neurotrophic Factor ; biosynthesis ; genetics ; therapeutic use ; Encephalomyelitis, Autoimmune, Experimental ; therapy ; Female ; Genetic Therapy ; Interferon-gamma ; blood ; Mice ; Mice, Inbred C57BL ; Random Allocation ; Stromal Cells ; metabolism ; T-Lymphocytes ; immunology ; Transfection ; Tumor Necrosis Factor-alpha ; blood