Prenatal phenotypic analysis and genetic counseling for 22q11.21 microdeletion and microduplication syndrome / 中华围产医学杂志

Objective:To analyze the prenatal clinical phenotypes and pregnancy outcomes of fetuses with 22q11.21 microdeletion and microduplication syndrome to provide a basis for clinical genetic counseling.Methods:This retrospective study involved the cases diagnosed with 22q11.21 microdeletion or microduplication by chromosomal microarray analysis (CMA) due to abnormal ultrasound findings, advanced maternal age, or high-risk pregnancies indicated by serum screening in the Prenatal Diagnosis Center of the First Affiliated Hospital of Air Force Medical University from January 2015 to January 2022. Clinical phenotypes and pregnancy outcomes of the fetuses were analyzed and described.Results:Among 9 141 cases referred for CMA during the study period, 77 cases (0.8%) were diagnosed as 22q11.21 microdeletion or microduplication, including 62 (80.5%) with 22q11.21 microdeletion and 15 (19.5%) with microduplication. In the 22q11.21 microdeletion cases, 58 had typical deletion, and four had atypical deletions, but all fetuses carried TBX1 gene that was clearly associated with congenital heart disease. The 15 fetuses with 22q11.21 microduplication including 14 in the typical region and one in the atypical region. Forty-eight (77.4%) out of the 62 fetuses with 22q11.21 microdeletion were complicated by congenital heart defects, including 28 with conotruncal defects. Five of the 15 fetuses with 22q11.21 microduplication were complicated by congenital heart defects. The cases were followed up on telephone at three to six months after the expected date of delivery. Among the 62 cases with 22q11.21 microdeletion, 52 terminated pregnancies, five were lost to follow-up, and five were delivered (one died after one month of premature delivery, one was born with anal advancement and growth retardation, and three were followed up without obvious abnormality). Among the 15 cases with 22q11.21 microduplication, four terminated pregnancies, two were lost to follow-up, and nine gave birth (eight were followed up without obvious abnormality, one grew slowly). Conclusions:The application of CMA in the prenatal diagnosis of 22q11.21 microdeletion and microduplication fetuses, and the comprehensive analysis of clinical manifestations and pregnancy outcome combined with ultrasonic diagnosis are of great significance in guiding the treatment and rehabilitation after birth of an affected child. Genetic counseling for cases with 22q11.21 microdeletion and microduplication syndrome should be cautious and consider ultrasound findings.

Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality / 解放军医学杂志

Objective To analysis the clinical high risk factors for fetal chromosomal abnormalities.Methods Amniocentesis,chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women,who presented sole indication of prenatal diagnosis such as advanced age,high risk factors and fetal ultrasound abnormalities,for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities.Results The detection rates of abnormal karyotype were 5.0％ (57/1143),1.7％ (40/2367) and 4.3％ (57/1319) in the older women group (age＞35),abnormal maternal serological screening group and abnormal fetal ultrasound finding group,respectively.The detection rats of karyotype abnormality were 6.9％ (23/333) in women with fetal congenital heart diseases,8.5％ (20/234) in those with abnormal amniotic fluid,1.1％ (1/89) in those with fetal ventriculomegaly,1.1％ (10/898) in those with fetal intracardiac hyperechogenicity,5.9％ (2/34) in those with fetal choroid cyst and 5.6％ (1/18) in those with fetal renal pelvis broadening.Conclusion The pregnant women with age＞35,fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history.

Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To optimize the methods for genetic detection and prenatal diagnosis of Duchenne muscular dystrophy (DMD).</p><p><b>METHODS</b>Denaturing high-performance liquid chromatography (DHPLC), multiplex PCR (mPCR), sequencing and other molecular techniques were used in combination for molecular diagnosis of 8 cases diagnosed as DMD.</p><p><b>RESULTS</b>Among the 8 cases, 4 have carried large deletions, 3 have point mutations, among which 6 were of de novo type. Prenatal diagnosis were offered for 5 families, the results showed that none of the fetuses had carried large deletions or point mutations. The pregnancies had continued and healthy babies were born.</p><p><b>CONCLUSION</b>Combined use of short tandem repeat, DHPLC, mPCR and sequencing can improve the detection of DMD gene mutations. By establishing and optimizing genetic and prenatal diagnostic methods, accurate genetic counseling can be provided for families affected with DMD.</p>

Pretreatment of ramie and kenaf stalk for bioethanol production / 生物工程学报

Ramie and kenaf were traditional fiber crops in China, but their stalk after decorticating has not been used effectively. The stalk contains a lot of cellulose, and can therefore be used for the production of bioethanol. We studied the effects of different chemical pretreatment on enzymatic digestibility of ramie stalk and kenaf stalk. Ramie and kenaf stalks pretreated with alkali were chosen to produce ethanol using quasi-simultaneous saccharification and fermentation (Q-SSF) process. The results show that for the stalks pretreated with 4% NaOH and 0.02% anthraquinone-2-sulfonic acid sodium salt (AQSS) as catalyzer at 170 degrees C for 1 h, the ethanol concentration could reach 51 g/L after fermentation for 168 h at 18% of solid substrate concentration. By fed-batch to 20% of solid substrate concentration, the ethanol concentration could reach 63 g/L, 77% and 79% of the cellulose conversion could get for ramie stalk and kenaf stalk, respectively. For kenaf stalk pretreated with 5.2% NaHSO3 and 0.2% H2SO4 at 170 degrees C for 1 h, the ethanol concentration and cellulose conversion could reach to 65 g/L and 72%, respectively.

Effects of interferon-? on recurrence and growth of intrahepatic HCC after radical resection in nude mice / 中国病理生理杂志

0.05).Tumor volumes was diminished in group B and C as compared with that in group A(P

Effects of Tangmaiantai on plasma lipid and renal funtion of rats with diabetic nephropathy / 中成药

AIM: To observe the effect of Tangmaiantai on the plasma lipid and renal function of rat with diabetic nephropathy. METHODS: The rat model of diabetic nephropathy was established by using STZ. The effect of Tangmaiantai on rat blood glucose before meal, serum TC, TG, Ccr, BUN and urinary protein were observed. RESULTS: Tangmainantai could decrease the level of serum TC, TG, Ccr, BUN and urinary protein, comparing to that of the model group (P