BackgroundRetinitis pigmentosa (RP) has the genetic and phenotype heterogeneity.To determine the disease-causing gene is a foundation of gene therapy.Objective This study was to localize the pathogenic gene and screen the gene mutation associated with Han Nationality autosomal dominant retinitis pigmentosa (ADRP) in a Chinese family.MethodsTwenty-one families enrolled this study,including 12 patients with ADRP and 9 individuals with normal phenotype.Perimetry,fundus examination,electrooculogram ( EOG ) and electroretinogram (ERG) were performed in 12 patients.Genetic linkage analysis was performed on the subjects in all known genetic loci related to ADRP with a panel of microsatellite markers.Subsequently,the mutation screening of rhodopsin gene was screened by direct DNA sequencing.This study was approved by Ethic Committee of Zhongnan Hospital of Wuhan University.Informed consent was obtained from each subject.ResultsThe fundus appearance of the proband was in accordance with the ADRP,and the EOG and ERG showed undetectable.Contractive visual field also was exhibited in the proband.Linkage analysis showed that the maximum logarithm of the odds(LOD) score reached 3.6671 at marker D3S1292 at recombination fraction θ =0.0.The results of direct DNA sequencing revealed a C→ G transversion mutation at codon 53 in exon 1 of rhodopsin gene,which resulted in a proline to arginine change (Pro53Arg) in 12 patients.However,no similar mutation was found in the unaffected members of this family.ConclusionsThe missence mutation Pro53Arg in rhodopsin gene cosegregate with the RP disease.It is determined to be a pathogenic factor of this ADRP family.

According to current situation of the undergraduates'scientific research,proposal of establishing the systematic research capacity training program was given,and this program's effects on undergraduates at our school were analyzed.

Objective Research was performed to test how to improve the effectiveness of health education. Methods 236 patients after cesarean section, during June 1, 2015 to November 31, 2015 from Obstetrics I in our hospital were selected. According to the room number, they were randomly divided into single-number rooms, 119 people in the control group, with the aid of pictures, materials, individual or group concentrated postnatal health education, and double-number rooms, 117 people in the experimental group, based on previous education with the extra use of digital television platform. The effects of the two groups were compared. Results In the experimental group after cesarean section, patients′ anal exsufflation time for less than 24 h and more than 36 h was 41 cases and 5 cases respectively, and patients′defectation time for less than 72 h, more than 72 h and less than 96 h, more than 96 h was 45, 66 and 6 cases respectively, while compared with the control group, there was 21, 83, 15 cases respectively. The differences between the two groups were statistically significant (χ2=36.90, P < 0.05). In the experimental group, the breast-sucking times within 24 hours was (9.41 ± 1.35) times, compared with the (7.29±1.02)times in the control group. The difference between the two groups was statistically significant (t=13.76, P<0.01). In the experimental group, the incidents of newborn adding milk, neonatal jaundice and neonatal erythema was 16, 12, 20 cases respectively, compared with the 33, 25, 47 cases in the control group. The differences between the two groups were statistically significant (χ2=7.08, 5.16, 14.56, P <0.05). In the experimental group, the numbers of individual behaviors like brushing teeth and combing hair, and family consultation was 110, 110, 42 cases, while in the control group was 92, 85, 75 cases respectively. The differences between the two groups were statistically significant (χ2=13.35, 20.97, 17.36, P < 0.01). Conclusion The use of digital TV platform for postpartum maternal health education is suitable for mothers and their families, with the consideration of individual needs, parturients can watch materials repeatedly and whenever they want. The application will come out with better education results.

Objective To investigate the rule of the cerebral tissues aquaporin-4(AQP-4) expression in acute and chronic hepatic failure mice.To study the molecular biologic mechanism of the diffusion weighted imaging(DWI).Methods Sixty five male Sprague-Dawley rats were divided into 3 groups randomly,including acute(n=25),chronic hepatic failure(n=25)and control group(n=15). Thioacetamide(TAA)intraperitoneal injection produces the acute and chronic hepatic failure models.All rats in groups were examined with MR DWI.We Observed the distribution of abnormal signal on DWI.The DWI single values of top and lateral cortex of parietal lobe,peripheral region of lateral ventricle in the highest hyperintensity section of brain were measured.Blood ammonia values were examined.The pathologic and immuno-histochemistry and RT-PCR examination for brain specimen were performed.All date were analyzed with statistical methods.Results The mean values of blood ammonia were significantly different (P0.05).Conclusions Increase of the blood ammonia was the main cause for the brain energy metabolic abnormality and AQP-4 mRNA and protein expression.The hyperammonemia was the key factor in the occurrence and development of the hepatic brain edema.The abnormal findings in DWI signal could reflect the range and degree of the brain edema and AQP-4 protein expression.

OBJECTIVETo investigate the clinical effectiveness of sertraline hydrochloride combined with four-spot caress in the treatment of primary premature ejaculation (PE).

METHODSWe randomly assigned 90 primary PE patients to three groups of equal number. The patients in group A (aged [28.1 ± 5.2] yr and with a disease course of [3.1 ± 1.9] yr) were treated with oral sertraline hydrochloride at 50 mg qd, those in B (aged [27.8 ± 4.1] yr and with a disease course of [3.2 ± 2.0] yr) by four-spot caressing (caressing the tongue, breasts, and vulva prior to intercourse), and those in C (aged [27.1 ± 4.7] yr and with a disease course of [3.1 ± 2.0] yr) by the combination of oral sertraline hydrochloride and four-spot caressing, all for 12 weeks. Before and after 4, 8, and 12 weeks of treatment, we obtained the intravaginal ejaculatory latency time (IELT) and Chinese Index of Sexual Function for Premature Ejaculation-5 (CIPE-5) scores and compared them among the three groups of patients.

RESULTSThe IELT was dramatically prolonged in groups A, B, and C after 4 weeks ([1.08 ± 0.29], [0.93 ± 0.28] and [1.21 ± 0.27] min), 8 weeks ([1.43 ± 0.30], [1.20 ± 0.33] and [1.72 ± 0.42] min) and 12 weeks of treatment ([2.12 ± 0.63], [1.90 ± 0.65] and [2.67 ± 0.82] min) as compared with the baseline ([0.63 ?0.14] , [0.60 ?0.14] and [0.62 ?0.11] min) (P < 0.05), even longer in group C than in A and B (P < 0.05). The CIPE-5 scores were markedly improved in groups A, B and C after 4 weeks ([15.17 ± 1.74], [14.57 ± 1.94] and [15.60 ± 1.63] min), 8 weeks ([17.13 ± 1.63], [16.37 ± 1.97] and [18.00 ± 1.05] min) and 12 weeks of intervention ([18.93 ± 1.57], [18.53 ± 1.67] and [20.00 ± 1.46] min ) as compared with the baseline ([12.57 ± 2.05], [13.20 ± 2.51] and [13.07 ± 2.01] min) (P < 0.05), even higher in group C than in A and B (P < 0.05).

CONCLUSIONSertraline hydrochloride combined with four-spot caressing, with its definite efficacy and rare adverse reactions, deserves wide clinical application in the treatment of primary PE.

Adult ; Coitus ; Ejaculation ; Female ; Humans ; Male ; Premature Ejaculation ; drug therapy ; Sertraline ; therapeutic use ; Young Adult

Objective To investigate the clinical features and the mechanism of falciparum malaria in several patients between Chinese and Malian.Methods The data of Chinese (n =28) and Malian patients (n =35) including general condition,Glasgow Coma Scale (GCS),APACHE Ⅱ,the time of applying ventilator and days of stay in ICU,laboratory examination (plasmodium test,routine blood test,liver and kidney function and C-reactive protein (CRP) assayed before treatment and 1d,3d,7d after treatment,cranial computed tomography and mortality were recorded for investigating the clinical features of the disease.Results There was difference in age range between Chinese patients (ranged from 32 to 50 years old) and Malian patients (ranged from 8 to 72 years old),and difference in severity of the disease between patients of two countries was found and Malian patients were more severely infected than Chinese patients.The results of plasmodium test,routine blood test,liver and kidney function and level of CRP often varied greatly during the entire course of the disease,and the changes were greater in Malian patients.The correlation between APACHE Ⅱ and CRP was found (P ＜ 0.05).The cranial CT displayed ischemia focus in brain.The mortality of Chinese patients was 16.7％ and that of Malian was 25.0％.Conclusions There was difference in composition of residents between Chinese patients and Malian patients.Malian patients were more severely infected with Plasmodium falciparum than Chinese patients,and this difference might be due to the potential correlation between the disease virulence and immune response of patients.

As perimenopausal syndrome is a particularly disturbing condition to the patient, it is practical and necessary to establish a program of comprehensive traditional Chinese medicine therapy for women with perimenopausal syndrome.

Objective To analyze the clinical features of rectal and perianal inflammatory myofibroblastic tumor and evaluate its diagnosis and treatment.Method Clinicopathological data of 3 cases diagnosed as inflammatory myofibroblastic tumor from January,2005 to June,2011 were retrospectively reviewed.Results Inflammatory myofibroblastic tumor presents as infiltrative growth mass with rich vascularization on CT or MRI,and is difficult to distinguish from hemangioma and other rectal tumors.Preoperative biopsy usually fails to ascertain the entity of mass,and pathological examination of the whole resected specimen with immunohistochemical staining is needed to make final diagnosis.All 3 cases underwent sphincter preserving surgery.One case received a second radical operation 16 months after primary resection because of local recurrence.All patients are followed up to now,with a survival time of 67 months,55 months,and 35 months respectively.Conclusions Rectal and perianal inflammatory myofibroblastic tumor is difficult to diagnose on preoperative imaging examinations or biopsy.Immunohistochemical staining is needed to make final diagnosis.Sphincter preserving surgery with complete tumor removal could achieve long term survival.

A 19-year-old female presented with a dark erythematous maculopapule measuring 2 cm in diameter on the left lower limb for more than one year.Physical examination revealed an enlarged cherry-like lymph node in the right inguinal region.Histopathology of the lesion revealed that the normal structure of skin disappeared absolutely,and there was a diffuse infiltrate of medium-sized lymphoid tumor cells with unclear nucleoli.Immunohistochemically,the tumor cells strongly expressed CD4,CD56 and CD123,and partially expressed terminal deoxynucleotidyl transferase (TdT).Flow cytometric analysis of bone marrow aspirates showed that abnormal cells amounted to 59.9％,and were positive for CD123st (strong),human leucocyte antigen-DRst (strong),CD56,CD304 (blood dendritic cell antigen-4),CD7,CD11b,CD33,CD36 and chemokine (C-X-C motif) receptor 4,CD13 (dim),CD4 (partial) and CD117 (partial).Transmission electron microscopy of bone marrow cells revealed that there were massive uniformly sized lymphoid cells with thick processes on cell surfaces,a high nucleus/cytoplasm ratio,centrally located round nuclei occasionally with deep gyrus-like notches,clumped marginated heterochromatin and multiple nucleoli.Moreover,a small amount of cytoplasm was observed in the lymphoid cells with the presence of mitochondria and endoplasmic reticulum arranged in concentric circles,which were characteristic of plasma cells.The features of both dendritic cells and plasma cells were found in the tumor cells through transmission electron microscopy.Based on the above findings,a diagnosis of blastic plasmacytoid dendritic cell neoplasm (BPDCN) was made.

Rhubarb is a traditional Chinese medicines which possess laxative, lipid-lowering, and weight-loss activities, but the active compounds of lipid-lowering and underlying molecular mechanisms are not yet clear. This study aims to explore the effects of chrysophanol on the mRNA expressions of sterol regulatory element-binding proteins (SREBPs) and lipid metabolism in human liver carcinoma Huh-7 cells, which is one of the active compounds obtained from Rhubarb. A reporter gene assay was used to test the transcription of SREBP. The intracellular triglyceride and total cholesterol contents were measured by using commercially available test kits. The SREBPs target genes expressions were measured by Quantitative Real-Time PCR. Cell viability was evaluated by Cell Counting Kit-8. As the results shown, chrysophanol (40 μmol · L(-1), 16 h) could notably inhibited human SRE promoter activity in a dose-dependent manner and decrease intracellular cholesterol and triglyceride levels. Furthermore, the mRNA expressions of SREBPs target genes were significantly downregulated by chrysophanol treatment. However there are no significant differences on cell viability when compared with the control group. These results suggested that chrysophanol might improve lipid metabolism through suppressing the mRNA expressions of SREBPs target genes to attenuate intracellular lipid accumulation.
Anthraquinones ; pharmacology ; CCAAT-Enhancer-Binding Proteins ; Cell Line, Tumor ; drug effects ; Cholesterol ; analysis ; Down-Regulation ; Gene Expression ; Genes, Reporter ; Humans ; Lipid Metabolism ; drug effects ; Promoter Regions, Genetic ; Sterol Regulatory Element Binding Proteins ; pharmacology ; Triglycerides ; analysis