Publications by authors named "Hong-Guo Zhang"

25 Publications

  • Page 1 of 1

Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy.

World J Clin Cases 2021 Jun;9(18):4573-4584

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun 130021, Jilin Province, China.

Background: Down syndrome (DS) is one of the most common chromosomal aneuploidy diseases. Prenatal screening and diagnostic tests can aid the early diagnosis, appropriate management of these fetuses, and give parents an informed choice about whether or not to terminate a pregnancy. In recent years, investigations have been conducted to achieve a high detection rate (DR) and reduce the false positive rate (FPR). Hospitals have accumulated large numbers of screened cases. However, artificial intelligence methods are rarely used in the risk assessment of prenatal screening for DS.

Aim: To use a support vector machine algorithm, classification and regression tree algorithm, and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS screening.

Methods: The dataset was from the Center for Prenatal Diagnosis at the First Hospital of Jilin University. We designed and developed intelligent algorithms based on the synthetic minority over-sampling technique (SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening information. The machine learning model was then established. Finally, the feasibility of artificial intelligence algorithms in DS screening evaluation is discussed.

Results: The database contained 31 DS diagnosed cases, accounting for 0.03% of all patients. The dataset showed a large difference between the numbers of DS affected and non-affected cases. A combination of over-sampling and under-sampling techniques can greatly increase the performance of the algorithm at processing non-balanced datasets. As the number of iterations increases, the combination of the classification and regression tree algorithm and the SMOTE-Tomek over-sampling technique can obtain a high DR while keeping the FPR to a minimum.

Conclusion: The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening dataset. When the T21 risk cutoff value was set to 270, machine learning methods had a higher DR and a lower FPR than statistical methods.
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http://dx.doi.org/10.12998/wjcc.v9.i18.4573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223828PMC
June 2021

Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.

Taiwan J Obstet Gynecol 2021 May;60(3):554-558

Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China. Electronic address:

Objective: To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation.

Case Report: A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34.

Conclusion: R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.
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http://dx.doi.org/10.1016/j.tjog.2021.03.031DOI Listing
May 2021

Clinical Application of Chromosomal Microarray Analysis in Pregnant Women with Advanced Maternal Age and Fetuses with Ultrasonographic Soft Markers.

Med Sci Monit 2021 Apr 10;27:e929074. Epub 2021 Apr 10.

Center of Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China (mainland).

BACKGROUND In pregnant women with advanced maternal age (AMA) and fetuses with ultrasonographic (USG) soft markers it is always challenging to decide whether to implement chromosomal microarray analysis (CMA) or not. It is unclear whether CMA should be used in the fetuses with isolated USG soft markers, and there is still a lack of extensive sample research. MATERIAL AND METHODS We enrolled 1521 cases in our research and divided them into 3 groups as follows: pregnant women with isolated AMA (group 1, n=633), pregnant women whose fetuses had isolated USG soft markers (group 2, n=750), and pregnant women with AMA whose fetuses had isolated USG soft markers (group 3, n=138). All pregnant women underwent prenatal ultrasound and amniocentesis, and fetal cells in the amniotic fluid were used for genetic analysis of CMA. All participants signed a written informed consent prior to CMA. RESULTS Abnormal findings were detected by CMA in 330 (21.70%) fetuses, including 37 (2.43%) clinically significant copy number variations (CNVs), 52 (3.42%) benign or likely benign CNVs, and 240 (15.78%) variants of unknown significance. The frequency of clinically significant CNVs in group 1 and group 2 were significantly lower than that in group 3 (2.37% and 2.0% vs 5.07%, P<0.01). More than a half (59.46%, 22/37) of the pregnant women decided to continue their pregnancy despite having a fetus diagnosed with clinically significant CNV. CONCLUSIONS CMA can increase the diagnostic yield of fetal chromosomal abnormality for pregnant women with isolated AMA or/and their fetuses had isolated USG soft markers.
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http://dx.doi.org/10.12659/MSM.929074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045481PMC
April 2021

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.

Taiwan J Obstet Gynecol 2020 Nov;59(6):963-967

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, PR China; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, Jilin, PR China. Electronic address:

Objective: We characterized a maternally inherited small supernumerary marker chromosome (sSMC) derived from chromosome 15 according to prenatal detection and made a review on the prenatal sSMC(15) cases with mosaic maternal inheritance.

Case Report: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal serum screening. No abnormalities were observed in prenatal ultrasound findings. G-banding analysis revealed a karyotype of 47,XX,+mar. Subsequently, we recalled the couple back for chromosomal analysis. The father's karyotype was normal while the mother's karyotype was 47,XX,+mar[15]/46,XX[35]. Molecular genetic analysis was utilized to identify the marker chromosome. The chromosomal microarray analysis (CMA) results of the mother showed there existed microduplications in the locus of 14q32.33, 15q21.1, 19p12 and Xq26.2, respectively. Then Fluorescence in situ hybridization (FISH) using specific probes for chromosomes 13/21, 14/22, and 15 was applied on the mother and the fetus. And the marker chromosomes for the mother and the fetus were all finally identified as inv dup(15) (D15Z1++, SNRPN-, PML-), which illustrated that the fetus inherited the sSMC(15) from her mother. Finally, a healthy female infant was delivered with no phenotypic abnormalities at 39 weeks.

Conclusion: The combined utilization of the molecular genetic technologies, such as FISH and CMA, plays a critical role in the identification of the origins and genetic constitutions of sSMC, which would make a significant contribution to genetic counseling and prenatal diagnosis.
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http://dx.doi.org/10.1016/j.tjog.2020.09.030DOI Listing
November 2020

Frequency and clinical manifestation of prenatal cytogenetic diagnosis of chromosomal polymorphisms in Northeast China.

Taiwan J Obstet Gynecol 2020 Nov;59(6):910-915

Center of Reproductive Medicine, Center of Prenatal Diagnosis, First Hospital, Jilin University, Changchun 130021, China. Electronic address:

Objective: To retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these fetuses.

Materials And Methods: 490 fetuses with chromosomal polymorphisms among 9996 pregnant women who underwent prenatal cytogenetic diagnosis were included in this study and were set as group 1. Other 500 pregnant women, whose fetuses were with normal karyotypes, were randomly selected from the remaining pregnant women and set as group 2. Clinical information and outcomes and maternal serum screening results of group 1 were compared with group 2.

Results: The frequency of fetal chromosomal polymorphism was 4.90% (490/9996). The most common variants observed were 1/9/16 qh± (2.27%, 227/9996), followed by inv(9) (0.90%, 90/9996). 94.62% (264/279) of fetal chromosomal variants were inherited from parents. No statistical difference was found in clinical information and outcomes and maternal serum screening results between group 1 and group 2.

Conclusion: The fetus with chromosomal polymorphism has no impact on serum markers of second trimester screening and does not play an important role for the clinical outcome of the current pregnancy either, whether it is inherited from the parents or a de novo mutation.
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http://dx.doi.org/10.1016/j.tjog.2020.09.019DOI Listing
November 2020

Indigenization of the median of markers for Down syndrome screening based on statistical analysis of medical big data.

Taiwan J Obstet Gynecol 2020 Jul;59(4):556-564

Center of Reproductive Medicine & Center of Prenatal Diagnosis, First Hospital, Jilin University, Changchun 130021, China. Electronic address:

Objective: To indigenize the median of Down syndrome (DS) screening markers for first and second trimester, and compare the impact of the indigenized and built-in median data on the efficiency of DS screening.

Materials And Methods: Data derived from first and Second-trimester screening (FTS and STS) for DS, composed of selected pregnancies deemed to be normal, were examined in a retrospective study. Indigenization regression analysis was calculated by using five models to fit statistical the raw data. Multiple of median (MoM) values estimated by using indigenized medians were compared with those calculated by using built-in.

Results: This study established a regression equation which is more suitable for the median of each screening marker in the local pregnant women. The changes of median MoM of screening markers were statistically significant after indigenization. For FTS, the detection rate was 100% when the false positive rate was 5%, and the cut-off value was 1/262. On the other hand, for STS, the detection rate of the model with indigenized parameters was 77.42%, which is 16.13% higher than that of built-in parameters.

Conclusion: For the individual specific risk of pregnancy, when the indigenized parameters was used to calculate, is more accurately and screening effectiveness has been improved. This is a great reference significance for the current prenatal screening whether indigenized data should be used.
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http://dx.doi.org/10.1016/j.tjog.2020.05.015DOI Listing
July 2020

Bifurcation analysis of a wild and sterile mosquito model.

Math Biosci Eng 2019 04;16(5):3215-3234

School of Mathematics and Statistics, Southwest University, Chongqing, 400715, P.R.China.

The bifurcation of an ordinary differential equation model describing interaction of the wild and the released sterile mosquitoes is analyzed. It is shown that the model undergoes a sequence of bifurcations including saddle-node bifurcation, supercritical Hopf bifurcation, subcritical Hopf bifurcation, homoclinic bifurcation and Bogdanov-Takens bifurcation. We also find that the model displays monostable, bistable or tristable dynamics. This analysis suggests that the densities of the initial wild mosquitoes and the released sterile ones determine the asymptotic states of both populations. This study may give an insight into the estimation number of the released sterile mosquitoes.
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http://dx.doi.org/10.3934/mbe.2019160DOI Listing
April 2019

Re-evaluation of the value of sperm morphology in classical fertilization in a Northeastern Chinese population.

J Int Med Res 2019 Sep 7;47(9):4134-4142. Epub 2019 Jul 7.

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital of Jilin University, Changchun, China.

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http://dx.doi.org/10.1177/0300060519860324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753564PMC
September 2019

Natural Transmission of b2/b3 Subdeletion or Duplication to Expanded Y Chromosome Microdeletions.

Med Sci Monit 2018 Sep 18;24:6559-6563. Epub 2018 Sep 18.

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin, China (mainland).

BACKGROUND Y chromosome microdeletions are usually de novo mutations, but in several cases, transmission from fertile fathers to infertile sons has been reported. MATERIAL AND METHODS We report 3 cases of infertile patients who inherited expanded Y chromosome microdeletions from their fathers, who carried b2/b3 subdeletion or duplication. The karyotype was analyzed using G-banding. High-throughput sequencing was used to detect AZF region microdeletions. RESULTS Cytogenetic analysis showed a normal karyotype 46,XY in patient 1 (P1), patient 2 (P2), and their fathers (F1 and F2). Patient 3 (P3) and his father (F3) presented a karyotype of 46,XY,Yqh-. High-throughput sequencing for the AZF disclosed an identical b2/b3 subdeletion in the F1 and F2. P1 had an AZFc deletion that accounted for 3.5 Mb, and P2 had an AZFa+b+c microdeletion that accounted for 10.5 Mb. F3 had a b2/b3 duplication of 1.8Mb, but P3 had an AZFb+c deletion of 6.2 Mb. CONCLUSIONS Our findings suggest that b2/b3 partial deletion or duplication can lead to structural instability in the Y chromosome and be a risk factor of complete deletion of AZFc or more expanded deletion during transmission.
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http://dx.doi.org/10.12659/MSM.911644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157087PMC
September 2018

Influence of the Ge distribution on the first order magnetic transition of the MnFe(P,Ge) magnetocaloric material.

Phys Chem Chem Phys 2018 Jul;20(26):18117-18126

Key Lab of Microstructure and Property of Advanced Material, Institute of Microstructure and Property of Advanced Materials, Beijing University of Technology, Beijing 100124, People's Republic of China.

MnFe(P,Ge) is a promising magnetocaloric material for potential refrigeration applications near room temperature. However, its relatively large hysteresis and large temperature/field range of two-phase [paramagnetic (PM) and ferromagnetic (FM)] coexistence displayed in the cyclic first order magnetic transition (FOMT) cause energy losses and reduce the energy conversion efficiency. In this work, we explore the underlying causes of phase coexistence, hysteresis and structural transformation based on determination of the Ge distribution in MnFeP1-xGex (0.10 < x < 0.50) materials. We find that all the samples crystallize in the Fe2P-type structure [P6[combining macron]2m (No. 189), Z = 3] and Ge displays a strong preference for the 2c site. First principles total energy calculations confirm this site preference of Ge, and Ge entering the 2c site changes the electronic structures and enhances the Fe and Mn 3d exchange splitting across the Fermi level as well as the FM exchange interactions, consequently leading to a linear increase in the transition temperature with increasing Ge content. Scanning electron microscopy and energy-dispersive spectroscopy reveal the inhomogeneous distribution of Ge in grains, which makes the grains with larger Ge content transform from the PM to the FM phase first when cooling and thus causes the phase coexistence. Maximum entropy method electron-densities show that weakening the coplanar Fe-P/Ge(2c) and Mn-P(1b) bonding strengths across the PM to FM phase transition can release some 3d-electrons to enhance the Fe-Mn FM exchange interaction and result in coupling between the magnetic and structural degrees of freedom. This provides first direct evidence for the dominant role of Fe-Mn exchange interaction in the ferromagnetic ordering and may provide a method to observe the exchange interaction. Diminishing the variances in covalent bonding strengths across the FOMT gives rise to an exponential decay in the heat hysteresis when increasing the Ge occupancy at the 2c site. To the best of our knowledge, this is the first time a relationship between the variances in covalent bonding strengths and hysteresis is proposed. This material thus provides an example of a FOMT and hysteresis driven by reversible weakening and strengthening of covalent bonds. Based on these, a strategy of designing better magnetocaloric materials is suggested.
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http://dx.doi.org/10.1039/c8cp01495gDOI Listing
July 2018

A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5.

Mol Cytogenet 2018 25;11:10. Epub 2018 Jan 25.

Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021 China.

Background: Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study explores the clinical features of carriers of chromosome 5 translocations, enabling informed genetic counseling of these patients.

Results: Of 82 translocation carriers, 9 (11%) were carriers of a chromosome 5 translocation. One case had azoospermia, while three cases had experienced recurrent spontaneous abortions, two cases had each experienced stillbirth, and three cases produced a phenotypically normal child confirmed by amniocentesis. A literature review identified 106 patients who carried chromosome 5 translocations. The most common chromosome 5 translocation was t(4,5), observed in 13 patients. Breakpoint at 5p15 was observed in 11 patients. All breakpoints at chromosome 5 were associated with gestational infertility.

Conclusion: In genetic counseling, physicians should consider chromosome 5 and its breakpoints. Carriers of chromosome 5 translocations may continue with natural conception or use assisted reproductive technologies, such as preimplantation genetic diagnosis.
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http://dx.doi.org/10.1186/s13039-018-0360-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785882PMC
January 2018

Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities.

J Int Med Res 2018 Jan 23;46(1):307-315. Epub 2017 Aug 23.

Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China.

Objectives To investigate azoospermic factor (AZF) microdeletions in infertile men from northeastern China with karyotypic Y chromosome abnormalities. Methods G-banding of metaphase chromosomes and karyotype analysis were performed in all infertile male patients. Genomic DNA was isolated and used to analyze classical AZF microdeletions by PCR. The regions and sequence-tagged sites of AZFa (SY86, SY84), AZFb (SY127, SY134, SY143), and AZFc (SY152, SY254, SY255, SY157) were sequenced by multiplex PCR. Results A total of 190 Y chromosome abnormality carriers were found, of whom 35 had AZF microdeletions. These were most common in 46,X,Yqh- patients, followed by 45,X/46,XY patients. Most microdeletions were detected in the AZFb + c region, including 48.57% of all AZF microdeletion cases. AZF partial deletions were also seen in these patients. Overall, AZF microdeletions were detected in 38.5% Y chromosome abnormality carriers, and most were observed in 46,X,Yqh- individuals. Loss of SY152 was seen in all 35 patients, with SY254/SY255 detected in 34 of 35 patients. Conclusions AZF microdeletions were detected in 38.5% of Y chromosome abnormality carriers. This indicates that AZF microdeletion screening is advisable for individuals with karyotypic Y chromosome abnormalities.
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http://dx.doi.org/10.1177/0300060517719394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011318PMC
January 2018

Decline of semen quality and increase of leukocytes with cigarette smoking in infertile men.

Iran J Reprod Med 2013 Jul;11(7):589-96

Reproductive Medical Center, First Hospital of Jilin University, Changchun, Jilin, China.

Background: Previous researches about the effect of smoking on semen quality are contradictory, and the mechanism behind the harmful effect of smoking on semen quality still remains unclear until today.

Objective: The objectives of this study are evaluation of the relationship between smoking and fertility, investigation of the effects of cigarette smoking on sperm parameters and detection of presence of leukocytes within the semen of idiopathic infertile men from Northeastern China.

Materials And Methods: A retrospective study of 1512 infertile patients who visited affiliated hospitals of Jilin University from 2007-2010 were enrolled in this study. Patients were assigned into one non-smoking and one smoking group which was divided into mild, moderate and heavy subgroups. Sperm parameters (including leukocytes) and sperm morphology analysis were performed using standard techniques.

Results: Compared with non-smokers, smokers had a significant decrease in semen volumes (p=0.006), rapid progressive motility (p=0.002) and sperm viability (p=0.019); moreover, smokers had a significant increase in the levels of immotile sperms (p=0.005) and semen leukocytes (p=0.002); pH and sperm concentration were not statistically significant (p=0.789 and p=0.297 respectively). Sperm motion parameters were all lower in the smokers except for beat-cross frequency (Hz) (BCF). Further, the percentage of normal morphology sperm was decreased significantly in smokers (p=0.003), the sperm morphology was worse with increasing degree of smoking.

Conclusion: These findings suggest that smoking leads to a significant decline in semen quality and higher levels of leukocytes, thus smoking may affects the fertilization efficiency.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941345PMC
July 2013

Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing.

J Assist Reprod Genet 2014 May 5;31(5):589-94. Epub 2014 Feb 5.

Center for Prenatal Diagnosis and Reproductive Medicine, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.

Purpose: We investigated the disagreement between the positive cell-free fetal DNA test for trisomy 13 and the standard cytogenetic diagnosis of one case.

Methods: Cell-free fetal DNA testing was performed by massively parallel sequencing. We used conventional cytogenetic analysis to confirm the commercial cell-free fetal DNA testing. Additionally, postnatal fluorescent in situ hybridization (FISH) testing was performed on placental tissues.

Results: The cell-free fetal DNA testing result was positive for trisomy 13. G-banded analysis of amniotic fluid was normal, 46, XY. FISH testing of tissues from four quadrants of the placenta demonstrated mosaicism for trisomy 13.

Conclusions: A positive cell-free fetal DNA testing result may not be representative of the fetal karyotype because of placental mosaicism. Cytogenetic analysis should be performed when abnormal cell-free fetal DNA test results are obtained.
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http://dx.doi.org/10.1007/s10815-014-0182-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016375PMC
May 2014

Analysis of Y chromosome microdeletion in 1738 infertile men from northeastern China.

Urology 2013 Sep 13;82(3):584-8. Epub 2013 Jun 13.

Centre for Reproductive Medicine, First Hospital of Jilin University, Changchun, China.

Objective: To determine the frequencies and the characteristics of Y chromosome microdeletion in infertile men from northeastern China to perform appropriate therapeutic choices.

Materials And Methods: The study included 1738 infertile men. Sperm concentration was measured according to standard methods and karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Multiplex polymerase chain reaction amplification using 9 specific sequence-tagged sites were selected to detect Y chromosome microdeletions.

Results: The data showed that the frequency of Y chromosome microdeletion was 8.57%. The most common microdeletion, among the azoospermia factor (AZF) regions, was detected in the AZFc region, followed by AZFb+c, AZFb, AZFa+b+c, AZFa, and AZFa+c. One-hundred seven patients with Y chromosome microdeletion developed azoospermia, 39 developed severe oligozoospermia (sperm concentration ≤5 × 10(6)/mL), and 3 developed moderate oligozoospermia (sperm concentration >5 × 10(6)/mL and ≤10 × 10(6)/mL). Karyotype analysis was available for 130 patients with Y chromosome microdeletion and abnormal karyotypes were found in 19 patients (14.6%). The most frequent abnormal karyotype was 46,X,Yqh-(n = 7).

Conclusion: In northeastern China, Y chromosome microdeletion diagnosis should be performed before the use of intracytoplasmic sperm injection in infertile men with sperm count ≤10 × 10(6)/mL, especially in men with azoospermia.
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http://dx.doi.org/10.1016/j.urology.2013.04.017DOI Listing
September 2013

45,X mosaicism in northeast China: a clinical report and review of the literature.

J Assist Reprod Genet 2013 Mar 9;30(3):407-12. Epub 2013 Jan 9.

Center for Reproductive Medicine, The First Bethune Hospital of Jilin University, Changchun, Jilin, China.

Purpose: To explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China.

Methods: GTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems. Literature on 45,X mosaicism was accessed using PubMed and reviewed.

Results: The prevalence of 45,X mosaicism in northeast China is 0.36 % (8/2250), and the mosaic karyotype of our study accounted for 61.54 % (8/13) of Turner syndrome cases. This is comparable with studies from Asia, Europe, South America and other regions. The affected patients showed genital abnormalities, abnormal pregnancy or infertility.

Conclusion: 45,X mosaicism is commonly seen in the genetic counseling clinic. Extensive cytogenetic assessment may improve the detection rate in patients with congenital dysplasia, or history of abnormal pregnancy or infertility. Karyotyping plays a key role in prognosis and assisted reproduction or early surgical treatment.
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http://dx.doi.org/10.1007/s10815-012-9927-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3607675PMC
March 2013

Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees in Northeast China.

J Assist Reprod Genet 2013 Feb 29;30(2):275-81. Epub 2012 Dec 29.

Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.

Purpose: To compare the frequency of chromosomal heteromorphisms in reproductive failure and fertile control individuals in Northeast China, and investigate the impact on reproductive failure

Methods: 1751 males and 1424 couples with reproductive failure (n = 4599) and 777 fertile control individuals in Northeast China were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Additionally, C-banding was performed with heterochromatin heteromorphisms, and NORs-banding with satellites/stalks variations. Multiplex polymerase chain reaction (PCR) adopted for the amplification using nine specific sequence tagged sites (STS) were used to detect Y-chromosome microdeletions with Y chromosome variations (Yqh±). At the same time, 38 heteromorphic probands' family members were recalled for performing karyotype analysis and to be surveyed for their detailed reproductive history.

Results: The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P > 0.05). Eight cases of Y variation (Yqh±) probands with Y-chromosomal microdeletions were detected among 44 reproductive failure patients and 6 fertile control men. In the 38 recalled families, the probands of fathers or mothers, even some of their brothers or sisters, had the same heteromorphic karyotypes as probands' despite that they didn't have any adverse reproductive history.

Conclusions: There was no statistically significant difference in frequency of chromosomal heteromorphisms between reproductive failure and fertile control individuals in Northeast China. Males with Y variations (Yqh±) should be ordered Y-chromosomal microdeletions detection. Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure.
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http://dx.doi.org/10.1007/s10815-012-9910-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3585671PMC
February 2013

Novel Y chromosome breakpoint in an infertile male with a de novo translocation t(Y;16): a case report.

J Assist Reprod Genet 2012 Dec 15;29(12):1427-30. Epub 2012 Nov 15.

Center for Reproductive Medicine, The First Bethune Hospital of Jilin University, Changchun, Jilin, 130021, China.

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http://dx.doi.org/10.1007/s10815-012-9886-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528878PMC
December 2012

[Effect of moxibustion on motility, absorption and content of ATP in small intestine of spleen-deficiency rats].

Zhongguo Zhen Jiu 2012 Mar;32(3):246-50

College of Acupuncture-Moxibustion and Massage, Hunan University of TCM, Major Laboratory of Meridians and Viscera, Tertiary Laboratory of State Administration of TCM, Changsha 410007, China.

Objective: To explore the mechanism of reinforcing function of moxibustion to spleen-stomach.

Methods: Forty healthy Sprague Dawley rats were randomly divided into 4 groups: group A (blank group), group B (model group), group C (moxibustion group) and group D (herbs group). The rat model of spleen-deficiency was established by intragastric administration with 200% Dahuang (Rhubarb) infusion. The rats in group A and B, and D served as the blank control, model, and Sijunzi decoction group respectively, while those in group C received moxibustion at "Zusanli" (ST 36), "Zhongwan" (CV 12), "Guanyuan" (CV 4), "Pishu" (BL 20) and "Weishu" (BL 21), etc. The common symptoms and intestinal propulsive rate were observed. The content of I-xylose in serum was detected by phloroglucinol method. Colorimetry method was used to detected content of ATP in jejunum tissues.

Results: Compared with group A, the symptom score in group B was increased significantly (both P < 0.01), while the intestinal propulsive rates, the content of D-xylose in serum and ATP in jejunum tissues were decreased significantly (P < 0.05, P < 0.01). Compared with group B, the symptom score in group C and D was decreased significantly (both P < 0.01), while the intestinal propulsive rates, the content of D-xylose in serum and ATP in jejunum tissues were increased significantly (P < 0.05, P < 0.01). There were no significant difference between group C and D (P > 0.05).

Conclusion: Moxibustion at "Zusanli" (ST 36) etc. could relieve symptoms of spleen-deficiency, enhance motility and absorption functions of small intestine and improve metabolism of small intestine. The efficacy is equal to administration of Sijunzi decoction.
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March 2012

NPA motifs play a key role in plasma membrane targeting of aquaporin-4.

IUBMB Life 2010 Mar;62(3):222-6

Northeast Normal University, Changchun, China.

The two highly conserved NPA motifs (asparagine-proline-alanine, NPA) are the most important structural domains that play a crucial role in water-selective permeation in aquaporin water channels. However, the functions of NPA motifs in aquaporin (AQP) biogenesis remain largely unknown. Few AQP members with variations in NPA motifs such as AQP11 and AQP12 do not express in the plasma membrane, suggesting an important role of NPA motifs in AQP plasma membrane targeting. In this study, we examined the role of the two NPA motifs in AQP4 plasma membrane targeting by mutagenesis. We constructed a series of AQP4 mutants with NPA deletions or single amino acid substitutions in AQP4-M1 and AQP4-M23 isoforms and analyzed their expression patterns in transiently transfected FRT and COS-7 cells. Western blot analysis showed similar protein bands of all the AQP4 mutants and the wild-type AQP4. AQP4 immunofluorescence indicated that deletion of one or both NPA motifs resulted in defective plasma membrane targeting, with apparent retention in endoplasmic reticulum (ER). The A99T mutant mimicking AQP12 results in ER retention, whereas the A99C mutant mimicking AQP11 expresses normally in plasma membrane. Furthermore, the AQP4-M1 but not the M23 isoform with P98A substitution in the first NPA motif can target to the plasma membrane, indicating an interaction of N-terminal sequence of AQP4-M1 with the first NPA motif. These results suggest that NPA motifs play a key role in plasma membrane expression of AQP4 but are not involved in AQP4 protein synthesis and degradation. The NPA motifs may interact with other structural domains in the regulation of membrane trafficking during aquaporin biogenesis.
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http://dx.doi.org/10.1002/iub.311DOI Listing
March 2010

Assessment of released acrosin activity as a measurement of the sperm acrosome reaction.

Asian J Androl 2008 Mar 20;10(2):236-42. Epub 2007 Dec 20.

Department of Cell Biology, School of Basic Medical Sciences, Jilin University, 126 Xin-min Avenue, Changchun, China.

Aim: To develop a method for assessing sperm function by measuring released acrosin activity during the acrosome reaction (AR).

Methods: Human semen samples were obtained from 24 healthy donors with proven fertility after 3-7 days of sexual abstinence. After collection, samples were liquefied for 30 min at room temperature. Standard semen parameters were evaluated according to World Health Organization (WHO) criteria. Calcium ionophore A23187 and progesterone (P4) were used to stimulate the sperm to undergo AR. After treatment, sperm were incubated with the supravital dye Hoechst33258, fixed in a glutaraldehyde-phosphate-buffered saline solution, and the acrosomal status was determined by fluorescence microscopy with fluorescein isothiocyanate-labeled Pisum sativum agglutinin (FITC-PSA). The percentage of sperm undergoing AR (AR%) was compared to sperm acrosin activities as assessed by spectrocolorimetry. The correlation between AR% and acrosin activity was determined by statistical analysis.

Results: The AR% and released acrosin activity were both markedly increased with A23187 and P4 stimulation. Sperm motility and viability were significantly higher after stimulation with P4 versus stimulation with A23187 (P < 0.001). There was a significant positive correlation between released acrosin activity and AR% determined by FITC-PSA staining (r=0.916, P < 0.001).

Conclusion: Spectrocolorimetric measurement of released acrosin activity might serve as a reasonable alternative method to evaluate AR.
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http://dx.doi.org/10.1111/j.1745-7262.2008.00312.xDOI Listing
March 2008

[Ca2+ and sperm function].

Zhonghua Nan Ke Xue 2006 Oct;12(10):933-5

School of Life Science, Northeast Normal University, Changchun, Jilin 130024, China.

Ca2+ is an important positive ion in the living body. Recently, there have been quite a few reports about the function of Ca2+ in sperm. Calcium is considered as a regulator of sperm motility, a participant in sperm capacitation, and an essential second messenger for acrosome reaction. This paper reviews the relationship of Ca2+ with sperm function.
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October 2006

[Relationship between sperm motility parameters and sperm morphology].

Zhonghua Nan Ke Xue 2006 Jul;12(7):590-3

College of Life Science, Central China Normal University, Wuhan, Hubei 430079, China.

Objective: To evaluate the relationship between sperm motility parameters and sperm morphology.

Methods: Seven hundred and eighty-three semen samples were tested. Sperm motility parameters were analyzed by computer-aided sperm analysis (CASA) , and sperm morphology assessed by automated sperm morphology analyzer (ASMA). The cases were classified based on the World Health Organization criteria. Morphologically 241 of the samples were normal and the other 542 abnormal.

Results: VCL, WOB, VAP of the morphologically abnormal group were significantly higher than those of the normal group (P < 0.05, P < 0.001), while MAD, LIN, STR of the abnormal group were significantly lower (P < 0.05, P < 0.001). There were significant positive correlations between the morphologically normal sperm rates and MAD, LIN, WOB, STR, and a significant negative correlation between the morphologically normal sperm rate and ALH.

Conclusion: Morphological abnormality of sperm is often accompanied with weak motility, which is probably attributed more to some factors that coact on both sperm motility and morphology than to the influence of sperm morphological abnormality on sperm motility.
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July 2006

Combined treatment of landfill leachate with fecal supernatant in sequencing batch reactor.

J Zhejiang Univ Sci B 2006 May;7(5):397-403

School of Environmental Science and Engineering, South China University of Technology, Guangzhou 510641, China.

A laboratory-scale sequencing batch reactor (SBR) is used to treat landfill leachate containing high concentration of ammonium nitrogen with municipal fecal supernatant. The SBR system is operated in the following sequential phases: fill period, anoxic period, aeration period, settling period, decant and idle period. The results indicated that the average removal efficiencies of COD, BOD(5), TN,NH(4)(+)-N were 93.76%, 98.28%, 84.74% and 99.21%, respectively. The average sludge removal loading rates of COD, BOD(5), TN and NH(4)(+)-N were 0.24 kg/(kg SS.d), 0.08 kg/(kg SS.d), 0.04 kg/(kg SS.d) and 0.036 kg/(kg SS.d), respectively. Highly effective simultaneous nitrification and denitrification was achieved in the SBR system. The ratio of nitrification and denitrification was 99% and 84%, respectively. There was partial NO(2)(-) denitrification in the system.
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http://dx.doi.org/10.1631/jzus.2006.B0397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1462934PMC
May 2006

[Effects of cigarette, alcohol consumption and sauna on sperm morphology].

Zhonghua Nan Ke Xue 2006 Mar;12(3):215-7, 221

Department of Urology, the Second Hospital, Jilin University, Changchun, China.

Objective: To investigate effects of cigarette, alcohol consumption and sauna on sperm morphology.

Methods: 602 cases of male infertility were selected from our case database, who were divided into three subgroups: smoking (243) , drinking(224), sauna(135) and those without any of the above habits were taken as the corresponding controls. The sperm morphology were analyzed by automated sperm morphology analyzer(ASMA). A questionnaire was voluntarily filled out by patients in order to investigate cigarette, alcohol consumption and sauna frequency.

Results: The normal morphologic sperm rates in cigarette, alcohol consumption and sauna groups were lower than those in the corresponding control groups, respectively(P <0.05, P <0.001). Percentages of irregularity head sperm were higher than those in normal controls, respectively(P <0.05).

Conclusion: Cigarette, alcohol consumption and sauna could affect sperm morphology, especially caused increasing of irregularity head sperm.
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March 2006
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