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.

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

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

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 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 relationship among serum reproductive hormone levels, serum homocysteine (Hcy) levels, metabolic syndrome (MS), and the components of MS in middle-aged and elderly males.

METHODSUsing the cluster and stratified sampling methods and a unified structured questionnaire, we conducted a survey among 948 men aged 40 - 80 years in the rural community, measured their basic physical parameters, and obtained their reproductive hormone levels, serum Hcy concentrations, and metabolism-related indicators. We collected 868 valid questionnaires along with their serum samples, divided the subjects into an MS and a non-MS control group in a 1:1 ratio, and measured their serum Hcy concentrations.

RESULTSAmong the subjects included, 132 were diagnosed with MS. Nonparametric tests showed statistically significant differences between the MS and non-MS groups in the waist circumference (WC), waist-hip ratio (WHR), body mass index (BMI), systolic blood pressure (SBP), and diastolic blood pressure (DBP) (P < 0.05), but not in age (P > 0.05). Significant differences were also observed between the two groups in the levels of serum tT, SHBG, LH, and FTI (P < 0.05) , but not in the concentrations of serum Hcy (P > 0.05). The concentration of serum Hcy exhibited no correlation with BMI, SBP, DBP, FBG, TG, and HDL-C (P > 0.05) and had no influence on MS.

CONCLUSIONThe concentration of serum Hcy is not significantly correlated with MS, nor with its components. The levels of male serum reproductive hormones are associated both with MS and with its components.

Adult ; Aged ; Blood Pressure ; Body Mass Index ; Homocysteine ; blood ; Humans ; Luteinizing Hormone ; blood ; Male ; Metabolic Syndrome ; blood ; diagnosis ; Middle Aged ; Reproduction ; Rural Population ; Sex Hormone-Binding Globulin ; metabolism ; Surveys and Questionnaires ; Testosterone ; blood ; Thyroxine ; blood ; Waist Circumference ; Waist-Hip Ratio

OBJECTIVETo set up a technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene, and to evaluate the possibility of using this technique for preimplantation genetic diagnosis(PGD) of deleted Duchenne muscular dystrophy (DMD) with family history.

METHODSFifty single lymphocytes of a normal male and fifty of a normal female were obtained for detecting dystrophin gene(exon 51, exon 19, exon 48) and SRY gene by 3-plex nested PCR.

RESULTSIn the group of exon 51/exon 19/SRY, the amplification rates of exon 51, exon 19 and SRY in male were 96%, 94% and 94%; the amplification rates of exon 51 and exon19 in female were 94% and 94%, respectively. In the exon 48/exon 19/SRY group, the amplification rates of exon 48, exon 19 and SRY in male were 92%, 90% and 94%, the amplification rates of exon 48, exon 19 in female were 94% and 92%, respectively.

CONCLUSIONThe technique of single lymphocytes 3-plex nested PCR for dystrophin and SRY gene established in this study is highly sensitive, specific and reliable, and is suitable for PGD of deleted DMD with family history.

Dystrophin ; genetics ; Exons ; genetics ; Female ; Humans ; Male ; Polymerase Chain Reaction ; methods ; Preimplantation Diagnosis ; methods ; Reproducibility of Results ; Sequence Deletion ; Sex Determination Processes