Thin endometrium is an important factor influencing the in vitro fertilization and embryo transfer, and there is a lack of effective therapy in the treatment of thin endometrium.The aim of this study was to explore a stable animal model of effective thin endometrium, and to promote the research on thin endometrium pathogenesis and provide experimen-tal basis of treatment.To analyze a variety of establishments of endometrial damage animal model reported in the domestic and foreign literatures,it is concluded that perfusing 95% ethanol into uterine cavities of rats can establish a rat model of thin endometrium,and put forward some experience and methods for its improvement.

Objective The purpose of this study was to compare the adenomyosis models in nude mice generated by four different methods,and to find out an optimal modeling method, and to provide an ideal animal model for exploring pathogenesis and experimental treatment of uterine adenomyosis. Methods 1. 80 female healthy nude mouse were divided randomly into 4 groups: Intraperitoneal implantation group, subcutaneous implantation group, intraperitoneal injection group, and subcutaneous injection group. The transplants were taken for pathological examination at 4 weeks after surgery. Results The success rate of intraperitoneal implantation group was 95%,and that of the subcutaneous implantation group was 45%,while the success rate of intraperitoneal injection group and subcutaneous injection group was 0%. Conclusions Establishment of a nude mouse model of uterine adenomyosis by intraperitoneal implantation method has a high success rate and with good stability, and is an ideal mouse model of human-derived uterine adenomyosis.

Objective To explore the therapeutic mechanism of kidney-tonifying and blood-activating herbal medicine for anovulatory dysfunctional uterine bleeding(ADUB).Methods Thirty-seven ADUB patients were randomized into two groups.Group A(N=25)was treated with Gongxue Yin(mainly composed of Fructus Psoraleae,Radix Dipsaci,Fructus Corni,Pollen Typhae,Radix Notoginseng,Radix Codonopsis,Os Draconis,Concha Ostreae,Herba Hedyotis Diffusae),and group B(N=17)received medroxyprogesterone.One menstrual cycle constituted one treatment course and the treatment lasted 3 continuous courses.Histostain-plus(HP)immunohistochemical assay was adopted to test the Bcl-2 and Bax protein expression in endometrium of the two groups.Ten healthy volunteers served as the control.Results Bcl-2 protein expression was higher in endometrium of ADUB patients at proliferative stage or with proliferative changes than that at secretory phase of the normal control group(P0.05).Conclusion Both progesterone and kidney-tonifying and blood-activating herbal medicine decrease endometrial Bcl-2 protein expression and increase Bax expression,by which inducing the endometrial cell apoptosis in patients with anovulatory dysfunctional uterine bleeding.But their detailed mechanism may be different.

Objective To observe the effect of Juli Sanjie Pill(JSP) on estrogen receptor(ER)? and ER? expression in the myometrium and hysteromyoma tissue,and to explore the correlation of ER? and ER? expression levels with the incidence of hysteromyoma. Methods Forty hysteromyoma patients were divided into two groups: 20 patients with operative indications after oral use of JSP and asking for operation,were enrolled in the treatment group,and other 20 patiens without mediation of medicine but asking for operation were in the control group.The ER? and ER? expression levels in hysteromyoma tissue and the surrounding normal myometrium of the two groups were detected by radioimmunoassay.Results There presented the expression of ER? and ER? in the hysteromyoma tissue and the surrounding normal myometrium of the two groups,and the levels in the hysteromyoma tissue were higher than that in the myometrium(P0.05).Conclusion The incidence of hysteromyoma is correlated with the local expression of ER? and ER? in the uterus.The therapeutic mechanism of JSP for hysteromyoma is probably related with the decrease of ER? and ER? expression levels in hysteromyoma tissue and with the decrease of ER? level in the surrounding normal myometrium.

Objective To observe the changes in estrous cycle and vaginal smears in ovarectomized NOD/SCID mice.Methods To continuously observe the estrous cycle time by vaginal smears of NOD/SCID mice in consecutive nine days, twice daily.After ovariectomy, the changes of estrous cycle were observed by vaginal smears for 7 days.Results The estrous cycle in NOD/SCID mice was 4-6 days.Regular estrous mice accounted for 80%.There was no significant correlation between vaginal opening and estrous cycle status.After ovariectomy, the vaginal smears showed characteristics of metestrus or diestrus.Conclusions Vaginal smear cytology can be used to determine the estrous cycle and characteris-tics of NOD/SCID female mice.The ovariectomized operation of NOD/SCID female mice is effective.

Objective To establish a rat xenograft model of human uterine leiomyoma using immunosuppressive a-gent and provide a useful tool for the study on uterine leiomyoma. Methods Intragastric administration with immunosup-pressive agent mycophenolate mofetil(MMF)(40 mg/kg)was given to rats for two weeks before the surgery until the end of the experiment. 20 SPF female Wistar rats were randomly divided into 4 groups after abdominal transplantation of human leiomyoma tissues:group A received femoston containing 0.4 mg/kg estradiol and 2 mg/kg dydrogesterone, group B re-ceived estadiol 0.4 mg/kg,group C received dydrogesterone 2 mg/kg,and group D served as the control group, received distilled water 1 mL/200 g. All rat received the corresponding drugs once per day for 2 days. Samples were taken at 4 weeks after the surgery to observe the pathology of the tumor tissues. Results The modeling success rates were 90% in the group A,40 % in the group B,and 0% in the groups C and D. Conclusions Rat xenograft model of human leiomyoma can be successfully established using an immunosuppressive agent femostone with a high modeling success rate and low cost. It can be used as a new animal model for the study of transplanted leiomyoma.

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

Objective: To investigate the efficacy and safety of micafungin (MCF) for pulmonary invasive fungal disease (PIFD) in pediatric patients with acute leukemia or post hematopoietic stem cells transplantation. Method: Twenty-five neutropenic PIFD children with acute leukemia or post hematopoietic stem cells transplantation in Sun Yat-sen Memorial Hospital of Sun Yat-sen University were selected from January 2012 to June 2015, including 12 males and 13 females, age range 2-15 (average 6.2±2.0) years. There were 12 cases of acute leukemia (AL) after chemotherapy, 4 cases of acute leukemia (AL) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and 9 cases of β-thalassemia major after allo-HSCT. All children received MCM for the treatment of PIFD, the dosage of MCM was 3-4 mg/ (kg·d) , once a day. The children received 2 to 6 courses of treatment, individually with a course of 7 days. 1, 3-β-D glucan assay (G test), galactomannan antigen test (GM test), high-resolution CT and the biochemical indexes for organ functions were closely monitored. Result: Twenty-five cases were diagnosed as PIFD, including 2 patients diagnosed as proven, 6 as probable and 17 as possible. Of the 25 cases, 1 was confirmed aspergillus by biopsy pathology and 1 was candida albicans by blood culture. The G and GM test with positive results was 5 and 2 respectively. Chest CT scans of the 25 cases had obvious lesions: air crescent sign and cavitation in 4 cases, diffuse ground glass change in 9 cases, double lung scattered patchy, small nodules and cord like high density shadow in 7 cases, unilateral or bilateral chest wall wedge-shaped consolidation edge in 5 cases and pleural effusion in 5 patients. The effective rate of MCF in treatment of PIFD was 68% (17/25), including 13 cases cured, 4 cases improved, 4 cases were improved clinically and in 4 cases the treatment was ineffective. Eight cases were effective in MCF monotherapy group (12 cases) and nine were effective in MCF combined therapy group(13 cases), respectively. Side-effects including allergies, gastrointestinal side effects, electrolyte disturbances, impairment of liver and kidney function, and myelosuppression were not found in those children treated with MCF. Conclusion Micafungin is effective and safe in the treatment of pulmonary invasive fungal disease in pediatric patients with acute leukemia or post hematopoietic stem cell transplantation.

OBJECTIVE: To explore the molecular basis for a child featuring with Floating-Harbor syndrome. METHODS: The 2-year-and-8-month-old child presented with retarded growth and language development. Genomic DNA was extracted from peripheral blood samples from the child and his parents with informed consent and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. Pathogenecity of the variants were predicted by using bioinformatic tools. RESULTS: The child was found to carry a de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) in the SRCAP gene. The variant was unreported previously and predicted to be pathogenic by MutationTaster. Analysis using HomoloGene system and MEGA software indicated position 2425 of the SRCAP protein to be highly conserved. Substitution of amino acid (Thr) at this position may cause destruction of three AT-hook domains (Amino acid 2857-2869, 2936-2948 and 3004-3016) and serious damage to the function of SRCAP protein. CONCLUSION The patient's condition may be attributed to the de novo frameshift variant c.7273dupA (p. Thr2425Asnfs*18) of the SRCAP gene. Above finding can facilitate diagnosis of Floating-Harbor syndrome among Chinese population.

OBJECTIVE: To analyze a pathogenic variant of MEFV gene in a family with autosomal dominant-familial Mediterranean fever (AD-FMF). METHODS: A 5-year-old boy presented with recurrent aseptic meningitis and his major symptoms included recurrent fever with headache and vomiting. His family members including his mother, sister and brother also had recurrent fever. A genetic disease was considered. DNAs were extracted from patient and all his family members' blood samples. Whole exome sequencing was performed to identify putative pathogenic variants that can explain this family's condition and Sanger sequencing was conducted. The impact of detected variants were predicted and validated by bioinformatics. RESULTS: A missense variant c.2229C>G (p.Phe743Leu) in MEFV gene was identified in the proband and his family members including his mother, sister and brother. This variant had not been reported in China previously, but the locus of it had already been reported in Arabic patient with AD-FMF (PS1). This variant was absent in major allele frequency databases (PM2) and had been predicted to be pathogenic based on Mutationtaster, PROVEAN and PolyPhen-2. In addition, the change of amino acid, locating in 743 locus of pyrin protein, encoding by MEFV gene, was found to cause SPRY_PRY_TRIM20 and SPRY_superfamily domain destroyed and finally influenced the fuction of pyrin protein. On the other hand, using UCSF chimera software, we find the variant c.2229C>G (p.Phe743Leu) can induce serious influence to the spatial structure of pyrin protein and loss of protein fuction (PP3). According to the ACMG variant classification guideline, the variant c.2229C>G (p.Phe743Leu) in MEFV gene was classified as likely pathogenic (PS1+PM2+PP3). CONCLUSION The condition of this AD-FMF family may be attributed to the missense variant c.2229C>G (p.Phe743Leu) in MEFV gene. The recurrent aseptic meningitis was a very rare manifestation in AD-FMF patients and had not been reported in China previously. The clinical and genetic findings of the present study are helpful for the further understanding of AD-FMF.
Child, Preschool ; Familial Mediterranean Fever/genetics* ; Gene Frequency ; Genetic Testing ; Humans ; Male ; Mutation ; Pyrin/genetics* ; Whole Exome Sequencing