OBJECTIVETo search for the possible relation between tortilcollis and partial chromosome 13q trisomy.

METHODSFluorescence in situ hybridization (FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously.

RESULTSThe two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis.

CONCLUSIONIt is suggested that a potential site for tortilcollis may locate on the long arm of chromosome 13. With reference to a report previously published, the more precise candidate related region may be 13q32--> qter.

Child ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 13 ; genetics ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Male ; Torticollis ; genetics ; Trisomy ; genetics

The effect and underlying mechanism of Bu-Shen-An-Tai recipe on ovarian apoptosis in mice with controlled ovarian hyperstimulation (COH) implantation dysfunction were studied.The COH implantation dysfunction model in mice was established by intraperitoneal injection of 7.5 IU pregnant mare's serum gonadotrophin (PMSG),followed by 7.5 IU human chorionic gonadotrophin (HCG) 48 h later.Then the female mice were mated with male at a ratio of 2:l in the same cage at 6:00 p.m.The female mice from normal group were injected intraperitoneally with normal saline and mated at the corresponding time.Day 1 of pregnancy was recorded by examining its vaginal smears at 8:00 a.m.of the next day.Fifty successfully pregnant mice were equally randomly divided into 5 groups:normal control pregnant group (NC),COH implantation dysfunction model group (COH),low dosage of Bu-Shen-An-Tai recipe group (LOW),middle dosage of Bu-Shen-An-Tai recipe group (MID) and high dosage of Bu-Shen-An-Tai recipe group (HIGH).Then from day 1,the mice in different groups were respectively intragastrically given corresponding treatments at 9:00 a.m.for 5 consecutive days.The concentrations of 17β-estradiol (E2) and progesterone (P4) were determined by radioimmunoassay (RIA).The ultrastructural changes of ovarian tissues were observed by transmission electron microscope (TEM).The histopathological changes of ovarian tissues were observed by HE staining.The number of atretic follicles and pregnant corpus luteum were also recorded.TUNEL was applied to measure apoptotic cells of ovarian tissues.Western blotting was used to detect the protein expression of apoptosis-related factors like Bax,Bcl-2 and cleaved-caspase-3 in ovarian tissue of mice.The results showed that ovarian weight,the concentrations of E2 and P4,the number of atretic follicles and pregnant corpus luteum,as well as the apoptosis of granulosa cells were significantly increased in the COH group.The ultrastructures of ovarian tissues in the COH group showed that chromatin in granulosa cells was increased,agglutinated,aggregated or crescent-shaped.The focal cavitation and the typical apoptotic bodies could be seen in granulosa cells in the late stage of apoptosis.After the treatment with different doses of Bu-Shen-An-Tai recipe,the ultrastructural changes of ovarian granulosa cells apoptosis were dramatically improved and even disappeared under TEM.Visible mitochondria and mitochondrial cristae were increased and vacuoles were significantly reduced.The lipid dropltes were shown in a circluar or oval shape.The protein expression levels of Bax and cleaved-caspase-3 were decreased,and the expression of Bcl-2 protein was increased after treatment.It was concluded that Bu-Shen-An-Tai recipe can inhibit the apoptosis of ovarian granulosa cells,probably by up-regulating the protein expression of Bcl-2 and down-regulating Bax and cleaved-caspase-3,which contributes to the formation and maintenance of ovarian corpus luteum.It's helpful to promote the embryonic implantation,to reduce embryo loss and ultimately to improve the success rate of pregnancy.

OBJECTIVE: To investigate the effect of placement of peripherally inserted central catheter (PICC) via the upper versus lower extremity veins in neonates through a Meta analysis. METHODS: CNKI, Wanfang Data, VIP Data, CBMdisc, PubMed, Web of Knowledge, Embase, Medline, Cochrane Library and Google Scholar were searched for control studies on the effect of PICC placement via the upper versus lower extremity veins in neonates. RevMan 5.3 was used to perform a Meta analysis of the studies which met the inclusion criteria. RESULTS: A total of 18 studies were included, among which there were 8 randomized controlled trials and 10 cohort studies, with 4 890 subjects in total. Compared with those undergoing PICC placement via the upper extremity veins, the neonates undergoing PICC placement via the lower extremity veins had significantly lower incidence rates of complications (RR=0.83, 95%CI: 0.75-0.92, P<0.05), catheter-related infections (RR=0.77, 95%CI: 0.60-0.99, P<0.05), catheter malposition (RR=0.28, 95%CI: 0.18-0.42, P<0.05), extravasation of the infusate (RR=0.52, 95%CI: 0.40-0.70, P<0.05), and unplanned extubation (RR=0.82, 95%CI: 0.69-0.98, P<0.05). They also had a significantly higher first-attempt success rate of puncture (RR=1.17, 95%CI: 1.05-1.30, P<0.05) and a significantly shorter PICC indwelling time (MD=-0.93, 95%CI: -1.26-0.60, P<0.05). CONCLUSIONS The above evidence shows that PICC placement via the lower extremity veins has a better effect than PICC placement via the upper extremity veins in neonates.
Catheterization, Central Venous ; Catheterization, Peripheral ; Cohort Studies ; Humans ; Infant, Newborn ; Lower Extremity ; Retrospective Studies

OBJECTIVE: To investigate the transduction efficiency of recombinant adeno-associated virus 2 ( rAAV2) in human bone marrow CD34+ hematopoietic stem/progenitor cells and mesenchyme stem cells. METHODS: The rAAV2 containing green fluorescent protein genes (rAAV2/GFP) were constructed, packaged and purified. CD34+ hematopoietic stem/progenitor cells and mesenchyme stem cells were infected with the rAAV2/GFP. After transduction for 48 hours, the expression of GFP was detected under fluorescence microscope. Furthermore, the transduction efficiency of AAV transduced CD34+ with hydroxyurea (HU) pretreatment and that of untreated were compared. RESULTS GFP genes were expressed in 5.3% +/- 1.7% CD34+ cells. After pretreatment with HU, the expression of the GFP gene in CD34+ cells increased to 13.2% +/- 2.8%, and 23% +/- 3.6% mesenchyme stem cells expressed the GFP gene. Conclusion The transduction efficiency of mesenchyme stem cells is higher than that of CD34+ hematopoietic stem/progenitor cells. HU pretreatment can obviously increase the transduction efficiency of CD34+ hematopoietic stem/progenitor cells.
Antigens, CD34 ; metabolism ; Bone Marrow Cells ; cytology ; metabolism ; virology ; Dependovirus ; genetics ; Genetic Therapy ; Green Fluorescent Proteins ; biosynthesis ; genetics ; Hematopoietic Stem Cells ; metabolism ; virology ; Humans ; Mesenchymal Stem Cells ; metabolism ; virology ; Recombination, Genetic ; Transduction, Genetic

Objective To explore the nursing experience of Minimally Invasive Percutaneous Nephrolithotomy ( MPCNL) for recurrent renal cast form calculis. Methods Nursing measurements and experience of twenty two patients were summarized who were all with recurrent renal cast form calculis suffered from MPCNL. Results No complications occurred in terms of high fever and urinary tract infection because of perfusion and other complications. Conclusions Nursing carefully during MPCNL is necessary to increase operation success rate, decrease complications and promote patients' recovery smoothly.

OBJECTIVE: To study the association of the polymorphisms of the serum amyloid A1 (SAA1) gene at rs4638289 and rs7131332 loci with Kawasaki disease (KD) and its complication coronary artery lesion (CAL) in children. METHODS: A total of 105 Han children with KD who were hospitalized and treated from 2013 to 2017 were enrolled as the KD group. A total of 100 Han children who underwent physical examination were enrolled as the control group. According to the presence or absence of CAL, the KD group was further divided into a CAL group with 23 children and a non-CAL (NCAL) group with 82 children. Polymerase chain reaction-restriction fragment length polymorphism was used to investigate the polymorphisms of the SAA1 gene at rs4638289 and rs7131332 loci. RESUKTS: For the locus rs4638289 of the SAA1 gene, there were no significant differences between the KD and control groups in the genotype frequencies of AA, AT, and TT and the allele frequencies of A and T (P>0.05). But there were significant differences between the CAL and NCAL groups in the genotype frequencies of AA, AT, and TT (P=0.016), while there were no significant differences in the allele frequencies of A and T (P>0.05). AT genotype was a protective factor against CAL (OR=0.276, 95%CI: 0.099-0.772, P=0.011). For the locus rs7131332 of the SAA1 gene, there were no significant differences between the KD and control groups in the genotype frequencies of AA, AG, and GG and the allele frequencies of A and G (P>0.05). There were also no significant differences between the CAL and NCAL groups in the genotype frequencies of AA, AG, and GG and the allele frequencies of A and G (P>0.05). CONCLUSIONS Polymorphisms of the SAA1 gene at loci rs4638289 and rs7131332 are not associated with the onset of KD, while the polymorphism at the locus rs4638289 is associated with CAL in KD patients. KD patients with genotype AT may have a reduced risk of CAL.
Case-Control Studies ; Child ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Mucocutaneous Lymph Node Syndrome ; genetics ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Serum Amyloid A Protein ; genetics

Objective To investigate the related factors of long-term prognosis in patients with neurosyphilis and the correlation between protein content in the cerebrospinal fluid and their prognosis.Methods Forty-five patients with neurosyphilis,admitted to our hospital from June 2006 to May 2009and treated with penicillin standardly during the whole course,were chosen in our study.Rapid plasma reagin test (RPR) and treponema pallidum gelatin particle agglutination test (TPPA) were performed in the serum and cerebrospinal fluid of all the patients; meanwhile,mini-mental state examination (MMSE)and activityof daily living (ADL) scale were scored at admission,6-month and 3-year after treatment.According to the effect of drug therapy,they were divided into two groups (disease-worsened group and disease-not-worsened group).Logistic regression and Pearson correlation analyses were used to estimate the factors related to disease worsen and long-term prognosis.Results In the 41 patients completed 3 years of follow-up,30 (73.2％) patients improved; 25 (61.0％) of them had worsened diseases during 6 month to 1 year after treatment; the other 16 were without disease worsen.Serum TPPA of all patients were positive during the 3 years of follow up.No significant differences in the serum and cerebrospinal fluid RPR titer or MMSE scores were noted between two groups at admission (P＞0.05); however,the cerebrospinal fluid protein of patients in the disease-worsened group was significantly higher than that of patients in disease-not-worsened group (P＜0.05),and the scores of MMSE and ADL scale were significantly worse than those of patients in disease-not-worsened group at 6 month and 3 year after treatment (P＜0.05); the serum RPR titer showed no obvious difference between the two groups at 6month or 3 year after treatment (P＞0.05).Logistic regression analysis showed that increased cerebrospinal fluid protein level was related to the worse of disease (P=-0.023,OR=3.336).Factors closely related to the long-term prognosis included cerebrospinal fluid RPR titer at admission (r=0.384,P=-0.013),cerebrospinal fluid protein content (r=0.612,P=-0.000) and scores of MMSE at admission (r=-0.651,P=0.000).Conclusion About 61％ of patients with neurosyphilis are worsen one year after being treated by penicillin G,but most of patients can improve at 3 year after repeated penicillin G treatment during the whole course; close relation between cerebrospinal fluid protein content and prognosis is noted:the higher the cerebrospinal fluid protein content,the poorer the prognosis and the worsen the illness; no relation between serum RPR titer and both severity of illness and long-term prognosis is noted.

Objective：This study was designed to investigate the outcome of double autologous hematopoietic stem cell transplantation(Double AHSCT) in hematological malignancies. Methods: The clinical data of 12 patients who underwent Double AHSCT between January 1995 and January 1999 were analyzed retrospectively and the outcome were compared with that of 17 patients who received single autologous hematopoietic stem cell transplantation (Single AHSCT) in the same period. Results: The duration of continuous remission in 12 patients undergoing Double AHSCT ranged from 6 to 68 months(mean 27 months). Among them, eight patients (66.7％ ) were still alive without relapse up to now. While one patient had relapsed 6 months after second grafting. Three patients died from diseases related to graft. The patients who received Single AHSCT had a continuous remission of 1－ 36 months after graft (mean 12 months). Six of the 17 patients were still alive in good condition. Eight patients relapsed and 3 patients died from diseases related to graft. Conclusion: Good outcome were showed in Double AHSCT for the treatment of hematological malignancies. The 18 month survival rate in Double AHSCT tended to be better than that in Single AHSCT.

Objective To observe the clinical efficacy of acupuncture combined with acupoint catgut embedding therapy on back-shu and front-mu points and external application on shenque(RN8)point for premature ovarian failure(POF).Methods A total of 62 patients with POF were randomly divided into the observation group and the control group,with 31 patients in each group.The observation group was treated with acupuncture combined with acupoint catgut embedding therapy on back-shu and front-mu points and external application on shenque point,and the control group was treated with hormone replacement therapy.After three months of treatment,the clinical efficacy of the two groups was evaluated,and the changes in the traditional Chinese medicine(TCM)syndrome scores,as well as the ovarian volume,number of antral follicle,and antral follicle diameter of the patients in the two groups before and after treatment were observed.The changes of serum follicle stimulating hormone(FSH),luteinizing hormone(LH)and estradiol(E2)levels before and after treatment were compared between the two groups.Results(1)The total effective rate was 93.55%(29/31)in the observation group and 80.64%(25/31)in the control group.The efficacy of the observation group was significantly superior to that of the control group,and the difference was statistically significant(P＜0.05).(2)After treatment,the serum FSH,LH and E2 levels of patients in the two groups were significantly improved(P＜0.05),and the improvement in the observation group was significantly superior to that in the control group,with statistically significant differences(P＜0.05).(3)After treatment,ovarian volume,number of antral follicle,and antral follicle diameter were significantly improved in the two groups(P＜0.05),and the improvement in the observation group was significantly superior to that in the control group,and the difference was statistically significant(P＜0.05).Conclusion The treatment of POF with acupuncture combined with acupoint catgut embedding therapy on back-shu and front-mu points and external application on shenque point can significantly improve the clinical symptoms of the patients,conducive to the recovery of ovarian function,and significantly improve the sex hormone levels of the patients,with precise clinical efficacy.

OBJECTIVETo retrospectively analyze the curative effects and prognostic factors of HLA-matched sibling donor allogeneic hematopoietic stem cell transplantation (allo-HSCT) for chronic myelogenous leukemia patients (CML).

METHODSOf the 35 CML patients, 26 were males and 9 were females, with a median age of 32 (12 - 50) years. 30 patients were in chronic phase of CML, 5 patients were in accelerated phase. Allo-HSCT from HLA identical siblings was performed for 35 patients, of whom 11 received bone marrow transplantation (BMT) and 24 peripheral blood stem cell transplantation (PBSCT). Conditioning regimens was TBI (total-body irradiation) + CY (CTX) protocol in 8 patients and BU/CY protocol in 27 patients. The average follow-up was 48 months (range 7 - 108 months).

RESULTS34 (97.1%) patients were successfully engrafted. Among them, 21 patients (60.0%) had three years disease-free (DFS) survival. The overall 5-year survival (OS) was 57.1%. Two patients (5.7%) relapsed. Transplant-related mortality occurred in 12 patients. Hemorrhagic cystitis (HC) occurred in 5 patients and HVOD was observed in 1 patient. Acute graft-versus-host disease (aGVHD) occurred in 18 patients (51.4%), among them 7 patients (20.0%) were of grade III-IV. Chronic GVHD was in 17 patients (48.5%). There was no significant difference in 3-years DFS between BMT group and PBSCT group (54.5% vs. 62.5%, P > 0.05). The 3-year disease-free survival (DFS) was 42.9% in TBI/CY group and 55.6% in BU/CY group (P > 0.05). In univariate prognostic analysis model, the DFS at 3 years is 75% and 47.4% for < or =30 years patients and >30 years patients, respectively, P < 0.05. The 3-year DFS of patients with first chronic phase is higher than patients with advanced diseases (61.3% vs. 40%, P < 0. 05). The 3-year DFS in patients of grade I - II GVHD was higher than that in patients of grade III-IV GVHD (81.8% vs. 14.3%, P < 0.05).

CONCLUSIONThe patients who had transplantation done within 1 year after diagnosis during their first chronic phase of disease and who had low-grade GVHD have better prognosis. Those patients who had III-IV acute GVHD are prone to incorporate severe infection, which was a worse prognostic factor of allo-HSCT for chronic myelogenous leukemia.

Adolescent ; Adult ; Age Factors ; Child ; Cystitis ; etiology ; Disease-Free Survival ; Female ; Follow-Up Studies ; Graft vs Host Disease ; etiology ; Hematopoietic Stem Cell Transplantation ; adverse effects ; methods ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; mortality ; therapy ; Male ; Middle Aged ; Recurrence ; Retrospective Studies ; Siblings ; Survival Rate ; Transplantation Conditioning ; Transplantation, Homologous