Preliminary study on the clinical value of noninvasive prenatal testing of fetal chromosomal copy number variations / 中国实用妇科与产科杂志

OBJECTIVE: To explore the clinical value of non-invasive prenatal testing(NIPT)for screening fetal chromosomal copy number variations(CNVs) and microdeletion/microduplication syndromes(MDs).METHODS: Retrospective analysis was made in the 10 005 women who received NIPT during the first trimester(15-20+ 6 weeks)from January,2012 to July,2017,at First People's Hospital of Yunnan Province,Department of Genetic Diagnosis Center.Among them 32 pregnant women were indicated fetal CNVs,25 of 32 pregnant women selected interventional prenatal diagnosis.Statistical analysis was made on the amniotic fluid/cord blood chromosome G band karyotype and high-throughput sequencing(NGS)genome copy number analysis was made,and relevant CNVs were searched and analyzed in the corresponding database;the consistency of CNVs found in NIPT with interventional prenatal diagnosis was statistically analyzed.RESULTS: During the second trimester(15-20+ 6 weeks),in the 10 005 pregnant women who received NIPT testing 32 cases were shown to have high risks of fetal CNVs,and the screening positive rate was 0.32%(32/10 005).In 25 high risk pregnant women who accepted invasive prenatal diagnosis via informed choice,14 women wereconfirmed as fetal CNVs,the positive predictive value(PPV)of NIPT being 56%(14/25),including 9 cases of microdeletion and 5 cases of microduplication.The sizes were between 587.75 kb and 36.05 Mb.The size and the start and end positions of CNVs found by NIPT were similar to those of fetal DNA samples detected by NGS.Among 14 cases of fetal CNVs,11 cases were identified as MDs,3 cases as unknown clinical significance.In 11 cases of MDs,8 cases were observed fetal chromosome structure abnormalities by karyotype analysis,10 cases were confirmed as de novo abbreviations,and 2 cases as originated from paternal same MD.After genetic counseling,10 pregnant women in 11 cases of MDs chose informed terminations,and one case chose continuing pregnancy.CONCLUSION: As a high-precision screening method,NIPT is expected to be an effective mean to screen for fetal CNVs,which can be used to detect highrisk chromosome microdeletion and microduplication CNVs of larger segments.High risk cases of fetal CNVs found by NIPT require invasive prenatal diagnosis for validation.

Effect of acupuncture on early cerebral palsy infants with parafunctional sitting position: a multi-centre, randomized, control research / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To study the clinical effect of development theory based acupuncture on early cerebral palsy (CP) infants with parafunctional sitting position.</p><p><b>METHODS</b>Totally 120 early CP infants were randomly assigned to two groups equally, the treatment group and the control group. All received acupuncture combined with training rehabilitation. Patients in the treatment group adopted acupuncture based on infants development theory, while those in the control group were treated by head acupuncture. Sitting functional points in Gross motor function measure (GMFM) 88 were observed in different groups and infant patients of various types before and after treatment. Root mean square (RMS) signals of sitting correlated muscles (latissimus dorsi, erector spinae, rectus abdominis) were recorded by surface electromyography (sEMG). The effective rate was evaluated by Nimodipine method.</p><p><b>RESULTS</b>Compared with before treatment, sitting functional points were significantly improved in the two groups (P<0.01). After treatment, it was higher in the treatment group than in the control group (P<0.01). The advance amplitude was higher in CP infants of the spastic type and the hypotonic type than other types (P<0.01). Along with sitting process, latissimus dorsi RMS signals were gradually tapered, erector spinae RMS signals were gradually enhanced, and rectus abdominis RMS signals were slightly weakened. Compared with the control group, latissimus dorsi RMS signals obviously decreased, and erector spinae RMS signals obviously increased in the treatment group after treatment (all P<0.01). The total effective rate was higher in the treatment group than in the control group (89.29% vs. 77.78%, P<0.05).</p><p><b>CONCLUSION</b>Infants development theory based acupuncture could effectively elevate dorsi-extensor muscles force, improve sitting position of 8 months to 1 year old CP infants with parafunctional sitting position.</p>

GnRHa therapy combined with Mirena for treatment of 70 cases of adenomyosis / 上海预防医学

combined with LNG-IUS) and control group ( n =36, treated by only LNG-IUS).After treatment were compared the improvement of uterine volume , dysmenorrhea and menorrhagia and other symptoms in the two groups. [Results] After treatment, the uterine volume, dysmenorrhea severity score and menstrual flow in observation group were significantly lower than those in control group ( P<0.05);during follow-up time, there occurred 7 cases(20.58%) of dripping vaginal bleeding and 4 cases(11.76%) of decyclization in control group , while in observation group there was none of occurrence . [ Conclusion ] GnRHa combined with LNG-IUS is of better clinical efficacy in the treatment of adenomyosis than LNG-IUS used alone.

Study on activated protein C resistance and disordered coagulation in patients with myeloproliferative neoplasms / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the correlation of activated protein C (APC) resistance, coagulation factors and inhibitors abnormality and JAK2V617F mutation burden in patients with myeloproliferative neoplasms (MPN).</p><p><b>METHODS</b>The APC resistance was defined as the ratio of activated partial thromboplastin time (APTT) in the presence and absence of APC, i.e. APC sensitivity ratio (APCsr). Plasma protein C (PC), protein S (PS), prothrombin (FII), factor V (FV), factor VIII levels and CD11b expression on neutrophils were measured. The percentage of mutated JAK2V617F allele (V617F%) was evaluated by real time polymerase chain reaction (qRT-PCR).</p><p><b>RESULTS</b>Expression of CD11b on neutrophils was significantly elevated in MPN patients compared with that of the control group. APCsr, PS and FV levels were reduced in patients with MPN. The APCsr level was decreased mainly in patients with thrombosis and JAK2V617F mutant burden higher than 75%. APCsr was not only positively correlated with PS levels but also inversely correlated with JAK2V617F allele burden in JAK2V617F mutant gene carriers.</p><p><b>CONCLUSION</b>The neutrophil was activated and PS, FV level were reduced in MPN patients. The APCsr level was decreased and the occurrence of relatively acquired APC resistance was found in MPN patients with thrombosis. The APCsr is correlated with the PS level and JAK2V617F mutational furden.</p>

Effects of mild warming moxibustion on acupoints Shenque (RN8) and Guanyuan (RN4) for prevention and treatment of recurrent respiratory tract infection in children with cerebral palsy / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the clinical effect of mild warming moxibustion (MWM) on acupoints Shenque (RN8) and Guanyuan (RN4) for treatment of recurrent respiratory tract infection (RRTI) in children with cerebral palsy (CP).</p><p><b>METHODS</b>Sixty-four CP patients with RRTI were randomly and equally assigned to two groups, all received conventional rehabilitation treatment, but in acute infection stage, MWM was applied on the treated group, and intravenous dripping of immunoglobulin was given to the control group, all for 3 months. The frequency of RRTI attacking (Fre), the mean cough alleviating time (T-CA) and rale disappearing time (T-RA) during infection, as well as the serum levels of immune globulins during the post-treatment 1-year follow-up period were observed.</p><p><b>RESULTS</b>The effectiveness in the treated group was better than that in the control group, showing in aspects of Fre (2.38 +/- 0.64 times vs. 6.50 +/- 0.84 times), T-CA (3.92 +/- 1.32 days vs. 6.48 +/- 2.18 days) and T-RA (4.66 +/- 1.82 days vs. 7.64 +/- 1.44 days), significant difference was shown between groups (P < 0.01). The serum levels of IgG, IgM and IgA all raised in both two groups (P < 0.05), comparison of immunoglobulin levels between groups showed that they were lower immediately after treatment, but higher at the end of the 1-year follow-up in the treated group than those in the control group.</p><p><b>CONCLUSION</b>MWM on acupoints Shengue and Guanyuan has a better and long-term clinical effect for treatment of RRTI in children with CP.</p>

Effect of warming moxibustion on Shenque acupoint for the treatment of acute diarrhea in children with infantile cerebral palsy / 中国结合医学杂志

<p><b>OBJECTIVE</b>To observe the effect of warming moxibustion on Shenque acupoint (RN8) for the treatment of acute diarrhea in children with infantile cerebral palsy (ICP).</p><p><b>METHODS</b>Clinical observation was performed on 60 ICP children suffering from acute diarrhea, who were randomly assigned to two groups equally. The Mox group was treated with warming moxibustion on Shenque acupoint (RN8) and the control group treated with Smecta. The efficacy was evaluated by markedly effective rate and total effective rate after a 6-day treatment, diarrhea arresting time as well as stool examination normalization rate and rotavirus negative reversion rate after a 3-day treatment.</p><p><b>RESULTS</b>The total effective rate in the two groups was insignificantly different (P>0.05), but the markedly effective rate was significantly higher in the Mox group than in the control group (P<0.01); a significant difference was also seen between groups in terms of diarrhea arresting time, stool examination normalization rate and rotavirus negative reversion rate (all P<0.05).</p><p><b>CONCLUSION</b>Warming moxibustion on Shenque acupoint is an effective treatment for acute diarrhea in ICP children, with advantages of simple manipulation and rapid effect initiation.</p>

The risk factors for thrombosis, myelofibrosis and leukemia transformation in patients with polycythemia vera / 中华血液学杂志

<p><b>OBJECTIVE</b>To reassess the natural history of polycythemia vera (PV) in Chinese and evaluate the relationship between the incidence of thrombosis, post-polycythaemic myelofibrosis with myeloid metaplasia( PPMM) , leukemia transformation and the therapeutic outcome and prognostic factors.</p><p><b>METHODS</b>The clinical manifestations, laboratory parameters and treatment were retrospectively analyzed in 287 patients with PV. Univariate analysis of prognostic factors was performed using Log-rank model and multivariate analysis using COX model in term of the incidence of thrombosis, PPMM, hematologic or non hematologic cancers and mortality.</p><p><b>RESULTS</b>Of the 287 patients, the median follow-up time was 46 (8-360) months. 208 thromboses were recorded in 115 patients. Twice or more thrombotic events occurred on 59 patients (51.34%). Most of these episodes occurred either at presentation or in the 2 years before diagnosis. Elder patients, prior thrombosis, poor response to therapy were associated with poor prognosis. With these three adverse prognostic factors, the patients could be separated into different risk groups. The incidence of thrombosis was higher in high risk group. 36 patients progressed to PPMM, the median time to PPMM was 80 (7-190) months. Higher WBC count, splenomegaly and treatment with alkylating agent and hydroxy-carbamide (HU) were associated with poor prognosis. 2 cases progressed to AML. 1 to lymphoma and 1 to nonhematologic cancer. 13 patients died, the cause of death was fatal thrombosis in 9 and AML in 2.</p><p><b>CONCLUSION</b>The incidence of thromboembolism is higher and the time to myelofibrosis was shorter in Chinese PV patients than in western PV patients. The main factors that influence the survival of PV patients are thromboembolism and leukemia transformation.</p>

Effects of resveratrol on isolated thoracic aorta rings of rats / 中国中药杂志

<p><b>OBJECTIVE</b>To investigate the relaxative characteristics of resveratrol on thoracic aortic artery in the rat and its mechanism.</p><p><b>METHOD</b>We perfused the isolated rings and observed the response of NA-induced artery contraction to resveratrol under the Ca2+-contained and Ca2+-free bath solutions. In the same way were the effect of reveratrol on the vascular smooth muscle observed by adding two different concentration of KCl (30 and 80 mmol x L(-1)), and the effect on the contraction of the vascular smooth muscle depending on the intracellular calcium and extracellular calcium were also observed by adding NA. We also observed the effect of resveratrol on the contraction of rings induced by NA in the presence of L-NNA and Glibenclamide.</p><p><b>RESULT</b>Resveratrol relaxed rat aorta rings precontracted by NA in a dose-dependent manner. The relaxant effect of resveratrol on the rat rings of endothelium-denuded group was reduced compared with that of endothelium-intact group; the relaxant effect of resveratrol on rat rings was higher under the condition of Ca2+-free bath solution than that under the condition of Ca2+-contained bath solution. Resveratrol had a repressive effect on the aorta's contraction induced by intracellular calcium, but had no effect induced by extracellular calcium. Resveratrol relaxed the contractions induced by KCl 30 mmol x L(-1) as well as KCl 80 mmol x L(-1), but the contraction curve of KCl 80 mmol x L(-1) was shifted upward significantly. In the L-NNA group, the relaxant effect was attenuated by (26.0 +/- 4.6) %; but there was no change in the group of Glibenclamide ( P > 0.05).</p><p><b>CONCLUSION</b>The results indicate that resveratrol relaxes vascular smooth muscle in an endothelium dependent manner. The mechanisms for this phenomenon seem to be related with promoting synthesis and release of NO, opening Ca2+ activated K+ channel (KCa channel) as well as the inhibition of Ca2+ influx and release of Ca2+ from intracellular stores.</p>