Objective To investigate the prenatal diagnosis and prenatal genetic conselling of pseudomosaic trisomy 20. Methods One case of pseudomosaic trisomy 20 was analyzed and relative literatures were reviewed. Results A 31-year-old gravid 1, para 0 woman underwent amniocentesis at 18 weeks of gestation due to high risk of trisomy 21 during maternal serum screening in September, 2012. Interphase fluorescence in situ hybridization (FISH) of amniocytes with probes GLP13/GLP21/CSP18/CSPX/CSPY showed a normal result, while cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+20[7]/46,XY[9]. The level of trisomy in the cultured amniocytes was 7/16. Cordocentesis revealed a karyotype of 46,XY in cultured cord blood cells. Interphase FISH analysis was performed using the probes D20Z1 (20p11.1-q11.1) and D20S1157/20QTEL14 (20 per/qter). Each probe showed two signals in all uncultured amniocytes. The prenatal ultrasound findings were unremarkable. The mosaicism was considered to be pseudomosaicism. After genetic counseling, the parents selected to continue the pregnancy. A healthy male baby was delivered at 39 weeks of gestation. Postnatal cytogenetic analysis revealed a karyotype of 46,XY in peripheral blood lymphocytes. Interphase FISH analysis of the uncultured buccal cast-off cells using the probes D20Z1 and D20S1157/20QTEL14 showed normal results in 100%cells. There was no phenotypic abnormality at the age of seven months. Conclusions When mosaic trisomy 20 is identified in amniocytes, further evaluation and genetic counseling are required. Interphase FISH of the uncultured amniocytes with a chromosome-specific probe is a useful tool for confirmation of the prenatal diagnosis of mosaicism. Genetic analysis of multiple tissues is required postnatally.

Platelets are one of essential components of mammalian blood and play an important role in physiological and pathological reactions such as hemostasis, inflammatory response, thrombosis and rejection of organ transplantation. Platelet activation signal is the main physiological transmission mechanism that activates and induces platelets to play a physiological role, which has been the research focus in the field of physiological research in recent years. In this paper, we reviewed the new mechanisms of adhesion receptor-mediated calcium elevation, the new ideas of platelet activation mediated by pattern recognition receptors, and the new concept in platelet cGMP signaling and some other new researches.

This study was aimed to analyze the mRNA expression of cytokines (TGF-beta, IL-2, IL-6, IL-10, IFN-gamma, TNF-alpha, FAS-L) in five rhesus treated with haploidentical peripheral blood stem cell transplantation after nonmyeloablative preparative regimens and to explore the role of these cytokines in the development and pathology of acute graft-versus-host-disease (aGVHD). Five rhesus monkeys received nonmyeloablative haploidentical peripheral blood stem cells transplantation. Semi-quantitative reversed transcription polymerase chain reaction (RT-PCR) was used to analyze the kinetics of cytokine mRNA expression in the transplantation and aGVHD. The results showed that five rhesus monkeys acquired hematopoietic reconstitution successfully. The graft was rejected in one monkey which survived without disease, the other four achieved mixed chimerism and full donor chimerism. Chimerism of low centigrade in one monkey achieved high centigrade at 35 days after donor stem cell infusion. Intestinal aGVHD grade III developed in one monkey. Cytokines of Th1 and Th2 changed after transplantation. In period of aGVHD, expression of TGF-beta decreased but all others increased in various levels. When donor chimerism decreased, the cytokines decreased accordingly. It is concluded that the decrease of TGF-beta mRNA may be an indicator to predict aGVHD, and can be used as a differential diagnostic indicator for intestinal GVHD.
Animals ; Cytokines ; biosynthesis ; genetics ; Graft vs Host Disease ; diagnosis ; metabolism ; Haploidy ; Macaca mulatta ; Peripheral Blood Stem Cell Transplantation ; adverse effects ; RNA, Messenger ; biosynthesis ; genetics ; Transforming Growth Factor beta ; biosynthesis ; genetics

OBJECTIVETo observe the effect of Tongsaimai (TSM) tablets in treating foot trauma of diabetic foot (DF) model rats, and discuss its potential mechanism.

METHODMale SD rats were selected to duplicate the diabetic foot ulcer model and randomly divided into the blank control group, the model group, the metformin treatment group, and TSM 12.44, 6.22, 3.11 g x kg(-1) groups (n = 10). The healing of ulcer wounds were observed on day 1, 4, 8, 13 and 18. After 18 days, a histopathologic examination was conducted for ulcer tissues. The contents of superoxide dismutase (SOD) and malondialdehyde (MDA) were detected by hydroxylamine and TBA methods. The content of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) were determined with the radioimmunoassay. The immunohistochemical method was used to observe the expression of vascular endothelial growth factor (VEGF) in ulcer tissues and the number of capillary vessels.

RESULTTSM could alleviate the pathological changes of diabetic foot rats, accelerate the ulcer healing on 4, 8, 13, 18 d, reduce MDA, IL-6, TNF-alpha, VEGF content in rat serum at 18 d (after the rehabilitation period), and enhance the SOD content. Specifically, the TSM 12.44 g x kg(-1) group showed significant differences compared with the model group (P < 0.05, P < 0.01). At 18 d after the treatment (the late rehabilitation period), the VEGF expression of TSM 12.44, 6.22 g x kg(-1) groups and the number of blood capillaries of the TSM 12.44 g x kg(-1) group were significantly lower than that of the model group (P < 0.05, P < 0.01).

CONCLUSIONTSM could promote the foot wound healing of DF model rats, reduce MDA, IL-6 and TNF-alpha levels in serum, increase the SOD content and decrease the VEGF expression and the number of blood capillaries in the late rehabilitation period. Its action mechanism may be related to the inhibition of oxidative stress injury and the inflammatory cell infiltration.

Animals ; Diabetic Foot ; drug therapy ; genetics ; metabolism ; physiopathology ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Interleukin-6 ; genetics ; metabolism ; Male ; Malondialdehyde ; metabolism ; Rats ; Rats, Sprague-Dawley ; Superoxide Dismutase ; genetics ; metabolism ; Tablets ; administration & dosage ; Vascular Endothelial Growth Factor A ; genetics ; metabolism ; Wound Healing ; drug effects

OBJECTIVETo investigate the clinical and pathological characteristics of patients with clinically presumed hypertensive nephrosclerosis (HN).

METHODSClinical data and renal biopsy results were obtained in 63 patients diagnosed clinically as HN (primary hypertension plus renal injury).

RESULTSHN was confirmed by biopsy in 47 out of 63 patients (74.6%, 12 malignant nephrosclerosis and 35 benign nephrosclerosis). Primary nephritis (PN) was diagnosed by biopsy in 10 patients (7 IgA nephropathy, 2 mesangial proliferative nephritis, 1 chronic interstitial nephritis) and focal and segmental glomerulosclerosis (FSGS) in 6 patients. Blood pressure, body mass index, GFR and blood lipids were similar among groups. HN patients were related to higher age, more frequent family history of hypertension, longer hypertension duration, higher left ventricular mass index, lower serum creatinine and lower incidence of microscopic hematuria. Most patients with malignant nephrosclerosis and FSGS patients showed grades III and IV retinopathy.

CONCLUSIONOur results show that HN was misdiagnosed in nearly 25% patients in this cohort. Since the clinical features are similar between HN, PN and FSGS, renal biopsy is needed to establish the diagnosis of HN.

Adult ; Aged ; Female ; Humans ; Hypertension, Renal ; complications ; diagnosis ; pathology ; Kidney ; pathology ; Male ; Middle Aged ; Nephrosclerosis ; diagnosis ; etiology ; pathology

OBJECTIVETo analyze the treatment outcome and impact of cytogenetic abnormalities on the response and survival of acute monocytic leukaemia (AMOL) patients received (m)HAD regimen as induction chemotherapy.

METHODSSeventy-nine AMOL patients were treated with (m)HAD regimen as induction therapy (HHT 2 mg/m(2), d 1-7; Ara-C 100 mg/m(2), d 1-7 and increasing to 1.5 g×m(-2)×(12 h)(-1), d 5-7 in some patients; DNR 40 mg/m(2), d 1-3). The treatment outcome and prognostic factors were analyzed.

RESULTS(1) The complete remission (CR) rate was 79.7% (63/79), partial remission (PR) rate was 6.3% (5/79), overall rate was 86.0%. (2) The chromosome karyotypes were analyzed in 75 patients, of whom 43 with normal karyotypes (NCR) and 30 abnormal karyotypes (ACR). For the cytogenetic prognostic groups, 49 patients were intermediate, 18 poor and 6 unknown. The CR, 1-year and 3-year overal survival (OS) rates in NCR group were significantly higher than those in ACR group (P < 0.05); but there was no significantly statistical difference in disease free survival (DFS) between the two groups (P > 0.05). The CR, 1-year OS, 3-year OS and 1-year DFS and 3-year DFS rates in intermediate prognostic group were significantly higher than those in poor prognostic group (85.7% vs 61.1%, 75.9% vs 51.3%, 65.4% vs 25.6%, 82.2% vs 66.7%, and 77.9% vs 26.7%, respectively) (P < 0.05). (3) Chromosome karyotype and the number of consolidation therapy courses had more important influence on survival in COX analysis.

CONCLUSION(m)HAD regimen as induction chemotherapy for AMOL patients achieves a high CR rate. It has an important influence on survival for the patients to received adequate consolidation therapy. The frequency of cytogenetic abnormalities in AMOL is similar to that in other AMLs. The prognosis of AMOL patients with chromosome karyotype in intermediate prognostic group is significantly better than that in poor prognostic group.

Adolescent ; Adult ; Female ; Humans ; Induction Chemotherapy ; Karyotype ; Leukemia, Monocytic, Acute ; drug therapy ; genetics ; Male ; Middle Aged ; Neoadjuvant Therapy ; Prognosis ; Retrospective Studies ; Treatment Outcome ; Young Adult

Objective To evaluate the performance characteristics of the second trimester double-marker test for the detection of fetal Down's syndrome in mainland China. Methods This prospective national multi-centered study used alpha-fetoprotein (AFP) and free β-subunit of human chorionic gonadotrophin( free β-hCG)as the serum markers. From May 2004 to September 2006, 11 centers participated in the collection and analysis of maternal serum AFP and free β-hCG between 14 and 20+6 weeks of pregnancy. The screening results were calculated using the standard algorithm based on the standard database provided with the analytic software. Patients with an increased risk of Down's syndrome pregnancy (≥1/270) were offered genetic anmiocentesis. Outcomes of all pregnancies were obtained.Results A total of 66 132 singleton pregnancies were included in the study. The median maternal age was 27 years. At a cut-eft of 1 in 270, the detection rate (DR) based on a Caucasian database was 72% corresponding to a false positive rate (FPR) of 5%, and the DR based on the Chinese database was raised to 76% corresponding to an FPR of 5%. Conclusion The double-marker test using AFP and free β-hCG is an effective screen strategy for second-trimester detection of fetal Down's syndrome in mainland China. Ethnic variance exists between the Caucasian and Chinese populations. The accuracy of screening is increased by the use of race-specific medians.

OBJECTIVETo investigate the expression of F4/80, NF-kappaB, p-AKT, AKT in the liver of nonalcoholic fatty liver disease (NAFLD) mice. To determine the role of Kupffer cells (KCs) in the development of NASH (non-alcoholic steatohepatitis), and understand the pathogenic mechanism of NASH.

METHODSFive C3H/HeN mice fed with normal diet were served as controls, while fifteen fed with high fat, high fructose, high fat combined fructose diet respectively for 16 weeks were as NAFLD mice models. The liver inflammation and hepatic damage were examined, and the expression of F4/80, NF-Kb, p-AKT, AKT and the content of lipid in the liver were also detected.

RESULTSChronic intake of high fat and 30% fructose solution caused a significant increase in hepatic steatosis in animals in comparison to water controls. Liver F4/80 and NF-kappaB were significantly higher in high fat and high fat combined fructose diet fed mice than that in controls (P < 0.01, P < 0.01), F4/80 protein were higher in high fat diet treated mice than those in fructose and high fat combined fructose groups (P < 0.01, P < 0.01). Markers of insulin resistance (e. g, hepatic phospho-AKT, AKT) were only altered in fructose-fed or high fat combined fructose animals (P < 0.01, P < 0.01).

CONCLUSIONHigh fat and fructose diet may induce NAFLD in C3H/HeN mice. Kupffer cells and signal pathway proteins were activated, and they may play key roles in the initiation and progression of NASH.

Animals ; Diet, High-Fat ; adverse effects ; Fatty Liver ; etiology ; immunology ; metabolism ; Female ; Fructose ; adverse effects ; Humans ; Kupffer Cells ; immunology ; Lipid Metabolism ; Liver ; immunology ; metabolism ; Male ; Mice ; Mice, Inbred C3H ; NF-kappa B ; immunology ; Non-alcoholic Fatty Liver Disease ; Oncogene Protein v-akt ; immunology ; Signal Transduction

OBJECTIVETo investigate the effect of RNA interfering TLR4 signal pathway on phagocytosis of Kupffer cells.

METHODSRAW2647 mice mononuclear macrophage leukemia cells were observed. The tested group was interfered by Tlr4-mus-1567 RNA which had the best result confirmed by QPCR, cells interfered by Negative Control RNA as NC group, and normal cell as control. We perform the phagocytosis test on each group.

RESULTSThe tested group has lower phagocytes percentage than control (17.67% +/- 3.51% vs 32.00% +/- 3.00%, P < 0.01), and lower phagocytic index (46.33% +/- 7.51% vs 82.00% +/- 6.08%, P < 0.01).

CONCLUSIONSDecreased phagocytic activity was observed on Kupffer cells by RNA interference.

Animals ; Kupffer Cells ; immunology ; Mice ; Phagocytosis ; RNA Interference ; Signal Transduction ; Toll-Like Receptor 4 ; genetics ; immunology

Monitoring engraftment of donor cells after allogeneic transplantation is the key of assessing successful establishment of animal transplantation model. The purpose of this study was to establish a method for analysis of chimerism in rhesus transplantation model. Y-specific sequence in rhesus was amplified by the polymerase chain reaction (PCR), method for analysis of chimerism in rhesus after sex-mismatched transplantation was established; the feasibility and sensitivity of the approach were tested by using serial DNA mixtures of sex-mismatched individuals; the accuracy of results was confirmed by chromosome karyotype analysis simultaneously; Chimerisms of one rhesus received allogeneic stem cell transplantation and the other received mesenchymal stem cells (MSC) transfusion were detected by this method. The results showed that a 176 bp long sequence of PCR product was gained in male rhesus, while no product was gained in female rhesus. The sensitivity of this method was up to 0.05% (male/female DNA ratio). Male donor chimerism were found on day 7 and 14 after allogeneic stem cell transplantation by Y-specific sequence and chromosome karyotype analysis. Otherwise, male donor chimerism was found in peripheral blood at 1 hour and in bone marrow on day 30 after MSC transfusion by this method, but no male donor chimerism was found after MSC transfusion using chromosome karyotype analysis. In conclusion, this rapid, sensitive approach can used to assess chimerism in experiments of rhesus alloorgan transplantation and cell transfusion.
Animals ; Base Sequence ; Female ; Macaca mulatta ; Male ; Mesenchymal Stem Cell Transplantation ; methods ; Models, Animal ; Molecular Sequence Data ; Transplantation Chimera ; blood ; genetics ; Transplantation, Homologous ; Y Chromosome ; genetics