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1.
Mol Pain ; : 1744806920908474, 2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-32024434

RESUMO

This cross-sectional study investigated whether the Catechol-O-methyltransferase (COMT) gene acts as a significant regulator of pain signaling pathways, regulates ß-endorphin, and contributes to ethnic differences in pain sensitivity. One-hundred-sixty healthy subjects were enrolled in this study, with Han and Uyghur groups each consisting of 80 participants. Subjects went through six pain threshold experiments. From venous blood, COMT polymorphisms were genotyped, and serum ß-endorphin levels were measured. Bivariate correlation analysis and multiple linear regression were used to identify the relationships among genotypes or ß-endorphin levels and different types of pain thresholds. Han and Uyghur ethnic differences were determined in terms of acute-pressure pain-perception thresholds, blunt-pressure pain-perception thresholds, blunt-pressure pain-tolerance thresholds, electric pain-tolerance thresholds, ß-endorphin levels, and distributions of rs4680 and rs4633 COMT polymorphisms. ß-endorphin levels did not correlate with COMT rs4680 or rs4633 genotypes in both Han and Uyghur. Statistical predictors for a lower pain-threshold performance included being young, Uyghur, female, and having a low BMI, low ß-endorphin level, and the rs4680 GA or GG allele. There is the significant difference in pain sensitivity between healthy Han and Uyghur. COMT gene variants and ß-endorphin levels contribute to ethnic differences in pain sensitivity.

2.
Medicine (Baltimore) ; 99(1): e18695, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31895838

RESUMO

RATIONALE: Jacobsen syndrome (JBS) is a rare chromosomal disorder with variable phenotypic expressivity, which is usually diagnosed in infancy and childhood based on clinical examination and hematological and cytogenetic findings. Prenatal diagnosis and fetal ultrasonographic findings of JBS are rare. PATIENT CONCERNS: A 38-year-old, gravida 3, para 1, pregnant woman underwent clinical ultrasound examination at 22 weeks of gestation. DIAGNOSES: Ultrasonographic findings indicated an interventricular septal defect, the presence of septal blood flow, dilation of the left renal pelvis, and a single umbilical artery. Amniocentesis was performed to evaluate possible genetic causes of this diagnosis by cytogenetic and single nucleotide polymorphism (SNP) array analysis. INTERVENTIONS: After genetic counseling and informed consent, the couple elected to terminate the pregnancy. OUTCOMES: Karyotype analysis showed that the fetal karyotype was 46,XX,del(11)(q23). The SNP array revealed a 6.118 Mb duplication of 11q23.2q23.3 and a 15.03 Mb deletion of 11q23.3q25. LESSONS: Ultrasonographic findings of fetal JBS, including an interventricular septal defect, dilation of the left renal pelvis, and a single umbilical artery, may be associated with a 15.03 Mb deletion of 11q23.3q25. Further cases correlating phenotype and genotype are required to predict the postnatal phenotype.


Assuntos
Síndrome da Deleção Distal 11q de Jacobsen/diagnóstico por imagem , Adulto , Feminino , Humanos , Cariótipo , Gravidez , Ultrassonografia Pré-Natal
3.
Mol Med Rep ; 21(2): 918-926, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31974623

RESUMO

Isodicentric Y chromosomes are considered one of the most common structural abnormalities of the Y chromosome. Neocentric marker chromosomes, with neocentromeres, have drawn increasing attention in recent years. The present study reported an azoospermic male with a neocentric isochromosome Yp, neo(Yp), and an isodicentric Yq, idic(Yq). The karyotype was analyzed using G­banding, chromosome microarray analysis (CMA), and fluorescence in situ hybridization (FISH) with various detection probes, including sex­determining region on the Y chromosome (SRY) and Y centromeric, applied at the same time. G­banding initially revealed the karyotype 47,X,i(Y)(q10),+mar. CMA indicated the presence of an extra Y chromosome, seemingly equivalent to 47,XYY males. FISH delineated the existence of two centromeres on the idic(Yq). For the marker chromosome, two SRY signals were detected instead of the Y­specific centromere signal, and a visual centromere was observed. This indicated the possible existence of a neocentromere in the marker chromosome, located in the connected region in Yp11.2 band. Finally, the patient's karyotype was established as 47,X,idic(Y)(p11.2), neo(Y)(pter→Yp11.2::Yp11.2→pter). The findings suggested that both idic(Yq) and neo(Yp) could be the main causes of the patient's azoospermia, despite the fact that the partial disomy of Ypter to Yp11.2 did not lead to any major malformations. The present study not only improves the understanding of karyotype/phenotype relationships between neocentric marker Y chromosomes and male infertility, but also supports the hypothesis that the combined application of molecular cytogenetic analysis could aid in reliably confirming breakpoints, origins, and the constitution of the marker chromosomes.

4.
Cytokine ; 125: 154810, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31430659

RESUMO

Prostate cancer (CaP) is a common male malignancy. Using prostate specific antigen (PSA) and prostate cancer antigen 3 (PCA3) in the diagnosis of prostate cancer, sensitivity and specificity still require improvement. Additional targets are urgently needed for the diagnosis, prognosis, and prediction of therapeutic response, leading to better treatments in order to reduce the mortality of CaP. Here, we utilized a solid-phase antibody array, which can simultaneously detect 200 proteins, for the screening of novel blood-based biomarkers. The proteins differentially expressed in the pathogenesis of CaP were further analyzed using bioinformatics methods. The identified targets were further validated by the enzyme-linked immunosorbent assay (ELISA). A total of 38 proteins were identified with significantly differential levels in CaP serum compared to healthy control serum, including 21 up-regulated and 17 down-regulated cytokines. ELISA result showed that validated six ones of these differential cytokines were significantly differential between CaP and control, consistent with the antibody array result. The protein-protein interaction (PPI) analysis for these differentially expressed cytokines showed the top five cytokines interacting with most other cytokines were insulin, SDF-1a, CD40L, IL-18 and NCAM-1, suggesting these five targets are important in the pathogenesis of CaP, and more sensitive for the early diagnosis and prognosis of CaP. Targeting these cytokines may be more effective therapies against CaP. Among these differentially expressed cytokines, it was found that AR, BTC, IL-1 F8, IL-31, Marapsin, b-NGF, EDA-A2, MCP-3, MCP-4, MIP-3a, PIGF, and TECK decreased, while Fas, Flt-3L, and NCAM-1 increased in CaP when compared to the controls. Taken together, those 38 differentially expressed cytokines may service as novel serum biomarkers for CaP, which will be further validated with more clinical samples.

5.
J Clin Lab Anal ; : e23139, 2019 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-31821609

RESUMO

BACKGROUND: Non-obstructive azoospermia (NOA), a serious phenotype of male spermatogenesis failure, is a multifactorial disease which is regulated by genetic, epigenetic, and environmental factors. Some gene structural variants have been demonstrated to be related to NOA. Loss-of-function mutations of KISS1R cause normosmic idiopathic hypogonadotropic hypogonadism (IHH) which result in azoospermia at the pre-testicular level. The objective of this research was to investigate genetic variants of KISS1R in NOA patients. METHODS: The entire coding region of 52 spermatogenesis-associated genes (KISS1R included) was sequenced from 200 NOA patients. Mutation screening was performed to identify genetic variations of these genes by targeted exome sequencing. Sequencing data analysis was carried out by a series of bioinformatics tools. Candidate variants confirmation was performed by Sanger sequencing. Functional analysis of candidate variants was evaluated using SIFT and PolyPhen-2. RESULTS: Three heterozygous missense variants in KISS1R were identified in three patients, respectively. No deleterious variations in other candidate genes were found in the three patients. Two of these three variants, p.A211T and p.G186E, had been reported in the ExAC and dbSNP database, respectively, while the other variant p.A301D was novel. These variants were all predicted to be likely pathogenic by in silico analysis. CONCLUSION: Our study revealed three heterozygous missense variants in KISS1R which expanded the mutation spectrum of KISS1R in infertile men with NOA in the northeast of China.

6.
Biomed Res Int ; 2019: 9398275, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31828149

RESUMO

Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia. The G-banding analysis initially described his karyotype as mos 47, XY, +mar[32]/46, XY[18]. The chromosomal microarray analysis results showed a 25.5 Mb gain in Yp11.31q11.23 and a 0.15 Mb loss in Yq12. Two SRY signals were discovered in the "seemingly" normal chromosome Y in both cell lines using SRY probe: one normal SRY was located on the distal tip of the short arm of chromosome Y while the other SRY was located on the terminal of long arm in the same chromosome Y. The sSMC(Y) was finally identified as der(Y) (pter ⟶ q11.23) (SRY-). To our knowledge, the chromosomal Y anomalies, SRY gene translocated from der(Y) (pter ⟶ q11.23) to qter of normal chromosome Y, were not reported before. Our findings indicated that the mosaic presence of sSMC(Y) may be the main cause of severe oligospermia although no other apparent abnormalities were observed in the proband. Further research on association between sSMC(Y) and spermatogenesis impairment should be investigated. It is recommended measures of traditional and molecular cytogenetic analysis should be taken to determine the origins and constitutions of sSMC so as to offer more appropriate genetic counseling for the infertile sSMC carriers.

7.
Medicine (Baltimore) ; 98(49): e18258, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31804359

RESUMO

RATIONALE: Chromosomal duplications are associated with a series of genetic disorders. However, chromosome 5q duplications, especially pure 5q35.3 microduplications, have rarely been reported in the literature. Clinical phenotypes usually depend on the region of chromosome duplicated, its size, and loci. PATIENT CONCERNS: From 2011 to 2017, prenatal amniotic fluid samples were obtained from 6 pregnant women diagnosed with pure 5q35.3 microduplications following different prenatal indications at our center. We followed up the children of these pregnancies and determined their postnatal health conditions. DIAGNOSES: Cytogenetic studies delineated that all patients had normal karyotypes, except for patient 6 who had 46,XX,inv(9)(p11q13). Single-nucleotide polymorphism array results showed 177-269 kb duplications of 5q35.3 (chr5:178728830-178997692) in these cases. All shared similar localization of ADAMTS2. INTERVENTIONS: All pregnant women chose to continue the pregnancies. Follow-up analysis showed that the children presented normal physical and growth developments. OUTCOMES: We described six prenatal cases with similar 5q35.3 duplications involving part of the ADAMTS2 locus with no apparent postnatal phenotypic abnormalities. LESSONS: Our research revealed that partial microduplication of ADAMTS2 (chr5:178728830-178997692) might be benign and not correlate with disorders. And there might exist phenotypic diversities of 5q35.3 duplications.


Assuntos
Proteínas ADAMTS/genética , Duplicação Cromossômica , Diagnóstico Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Fenótipo , Polimorfismo de Nucleotídeo Único , Gravidez , Resultado da Gravidez
8.
Opt Express ; 27(24): 34618-34625, 2019 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-31878649

RESUMO

A 2052.96 nm single-longitudinal-mode pulsed Ho:YVO4 MOPA system was demonstrated for the first time. The pulsed Ho:YVO4 MOPA system consisted of a unidirectional ring passively Q-switched oscillator and a single-pass amplifier. By inserting an isolator, a half-wave plate and a Cr2+:ZnS plate into the ring Ho:YVO4 oscillator cavity, the single-longitudinal-mode pulsed laser was achieved with an average output power of 1.02 W with pulse width of 910 ns and pulse repetition frequency (PRF) of 67 kHz. Using the residual (non-absorbed) pump power of the oscillator as pump, the single-pass pulsed Ho:YVO4 amplifier obtained an average output power of 1.67 W. The total optical-to-optical efficiency of the pulsed Ho:YVO4 MOPA system was 14.3%. Single-longitudinal-mode pulsed MOPA system based on isolator and Cr2+:ZnS around 2 µm has not been reported yet to the best of our knowledge.

9.
Medicine (Baltimore) ; 98(47): e18041, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31764825

RESUMO

Fetal chromosomal abnormalities are considered to be the main cause of spontaneous abortion (SA). We aimed to determine the differences in the rates and numbers of chromosomal abnormalities between samples from women with a history of one versus more than one SA as well as between samples from first- and second-trimester SAs in women from Northeast China.In total, 1210 products of conception (POCs) from patients with a history of one or more SAs were examined. Of these 1210 samples, 434 were from women with a history of 1 SA, and 776 were from women with a history of more than 1 SA. Additionally, 1071 samples were from the first trimester, 118 were from the second trimester, and 21 were from the third trimester. We identified chromosomal abnormalities by next-generation sequencing (NGS) technology. Among the 1210 POCs in women with SA, 607 (50.17%) had fetal chromosomal abnormalities. There were no significant differences in the rates of chromosomal abnormalities according to the abortion frequency. However, first-trimester SA had a significantly higher percentage of fetal chromosomal abnormalities than second-trimester SA (P < .05). Among 663 chromosomal abnormalities, 633 abnormalities occurred in first-trimester SA; the most frequent karyotype was trisomy 16 (14.38%), followed by monosomy X (13.27%), trisomy 22 (7.90%), and trisomy 15 (5.37%). Thirty abnormalities occurred in second-trimester SA; the most frequent karyotype was trisomy 18 (26.67%), followed by monosomy X (16.67%), trisomy 21 (13.33%), and trisomy 13 (10.00%). No chromosomal abnormalities occurred in the third trimester.These findings indicate the importance of determining the genetic cause of abortion in patients with a history of SA. We also identified a trend suggesting that the percentage of fetal chromosomal abnormalities is significantly higher in first- than second-trimester SA. The detection rate of chromosomal abnormalities in POCs from SA can be increased by NGS, which is beneficial for couples with recurrent miscarriages and offers better genetic counseling in the clinical setting.


Assuntos
Aborto Espontâneo/genética , Aberrações Cromossômicas , Variações do Número de Cópias de DNA , Feto , Sequenciamento de Nucleotídeos em Larga Escala , Feminino , Humanos , Gravidez
10.
Mol Cytogenet ; 12: 44, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31700544

RESUMO

Background: 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular genetic techniques. Case presentation: We identified eight azoospermic 46,XX males who underwent infertility-related consultations at our center. They all presented normal male phenotypes. In seven of the eight 46,XX males (87.5%), translocation of the SRY gene to the terminal short arm of the X chromosome was clearly involved in their condition, which illustrated that this translocation is the main mechanism of 46,XX sex reversal, in line with previous reports. However, one patient presented a homozygous DAX1 mutation (c.498G > A, p.R166R), which was not previously reported in SRY-negative XX males. Conclusions: We proposed that this synonymous DAX1 mutation in case 8 might not be associated with the activation of the male sex-determining pathway, and the male phenotype in this case might be regulated by some unidentified genetic or environmental factors. Hence, the detection of genetic variations associated with sex reversal in critical sex-determining genes should be recommended for SRY-negative XX males. Only after comprehensive cytogenetic and molecular genetic analyses can genetic counseling be offered to 46,XX males.

11.
Mol Cytogenet ; 12: 45, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31709014

RESUMO

Background: Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China. Methods: We evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping. Results: Among these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results. Conclusion: The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

12.
Open Med (Wars) ; 14: 854-862, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31737790

RESUMO

Previous studies indicated that chromosome 9 translocations are involved in reduced male fertility and increased chance of miscarriage in the female partner. The aim of this study was to review the clinical features and genetic counselling requirements of infertile men carrying chromosome 9 translocations. This study analyzed fertile-age male carriers of chromosome 9 translocations, and included 12 clinical cases in our hospital. In our cases, three cases had oligozoospermia or severe oligozoospermia, while nine cases had normal semen. Of the latter nine cases, seven were associated with recurrent spontaneous abortions, and two produced a phenotypically normal child as confirmed by amniocentesis. Male chromosome 9 translocations and specific breakpoints from reported papers were searched using PubMed and CNKI database. A literature review identified 76 male patients who carried chromosome 9 translocations. Breakpoints at 9p12, 9p11, 9p10 and 9q34.1 were related to pregestational infertility, while breakpoints at 9p21, 9q10, 9q11, 9q13, 9q21.1, 9q22, 9q22.2, 9q22.3, 9q34, 9q34.2 and 9q34.3 exhibited gestational infertility. Chromosome translocations involving chromosome 9 lead to increased risk of miscarriage. Carriers of chromosome 9 translocations should be counselled to consider in vitro fertilization accompanied by preimplantation genetic diagnosis.

13.
Nanomaterials (Basel) ; 9(10)2019 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-31635404

RESUMO

In this study, we developed a simple-to-use approach based on an atmospheric pressure plasma jet to synthesize aqueous Au nanoparticles (AuNP). Special attention was paid to the different reaction dynamics and AuNP properties under AC and pulse-power-driven plasma jets (A-Jet and P-Jet, respectively). The morphology of the AuNP, optical emissions, and chemical reactions were analyzed. Further, a copper mesh was placed above the reaction cell to evaluate the role of electrons and neutral species reduction. A visible color change was observed after the A-Jet treatment for 30 s, while it took 3 min for the P-Jet. The A-Jet treatment presented a much higher AuNP growth rate and a smaller AuNP diameter compared with the P-Jet treatment. Further analysis revealed an increase in chemical concentrations (Cl- and H2O2) and liquid conductivity after plasma treatment, with a higher increased amplitude for the A-Jet case. Moreover, the electrons alone had little effect on AuNP generation, while neutral species showed a clear Au+ reduction effect, and a unique coupling effect between both reactions was observed. The different reaction dynamics between the A-Jet and P-Jet were attributed to their different local heating effects and different discharge power during the reaction.

14.
Medicine (Baltimore) ; 98(38): e17200, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31567968

RESUMO

The universal two-child policy has now been fully implemented in China. This change requires adaptations to maternal care and childcare systems, but the features of prenatal diagnosis before and after implementation of the policy have not been reported.We conducted a retrospective study of 6736 prenatal cytogenetic diagnoses performed on amniotic fluid cells over a 4-year period, including 2 years before and after implementation of the second child policy. Amniotic fluid cells collected through amniocentesis were cultured, harvested, and stained for chromosome analysis using standard laboratory protocols.The study included 3222 pregnant women referred before implementation of the policy, which we used as a control group, and 3514 pregnant women referred after policy implementation as an investigational study group. There were significantly fewer pregnant women aged <25 years in the investigational group than in the control group (P < .001). There were no significant between-group differences for other pregnant women aged >31 years and 27-28 years old (P > .05). A total of 358 cases with chromosomal abnormalities were diagnosed, including 129 (4%, 129/3222) in the control group which was significantly lower than the 229 (6.5%, 229/3514) in the study group (P < .001). In particular, significantly more trisomy 21 cases were observed in the study group than in the control group (120 vs 59). More pregnant women underwent non-invasive prenatal testing (NIPT) in the study group (46%) than in the control group (20%). In the study group, the average age of pregnant women who underwent NIPT was significantly higher than that of women who did not receive NIPT (P < .05). However, there were no significant between-group differences for the control group (P > .05).The number of cases with chromosomal abnormalities increased in northeastern China in the 2 years after implementation of the two-child policy. The number of pregnant women of advanced maternal age did not increase significantly, perhaps because of the widespread application of NIPT. However, the number of fetuses with Down syndrome increased significantly, suggesting that prenatal screening and diagnosis should be strengthened.


Assuntos
Controle da População , Diagnóstico Pré-Natal/estatística & dados numéricos , Política Pública , Adulto , Fatores Etários , Amniocentese/estatística & dados numéricos , China , Aberrações Cromossômicas , Feminino , Humanos , Controle da População/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Adulto Jovem
15.
Medicine (Baltimore) ; 98(41): e17407, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31593094

RESUMO

BACKGROUND: To evaluate the safety of intracytoplasmic sperm injection (ICSI) for men with Y chromosome azoospermia factor (AZF) microdeletions. METHODS: Twenty-five men with Y chromosome microdeletions and their partners underwent ICSI treatment. These subjects were matched against 50 ICSI cycles in which the patients had normal Y chromosomes. RESULTS: Among the 25 couples, 17 achieved a clinical pregnancy of which 14 continued to a live birth. Sixteen men had deletions of AZFc markers (sY152, sY254, and sY255), 1 had a deletion of sY152, 3 had a deletion of sY254, sY255, 1 had a deletion of sY152, sY239, Sy242, sY254, and sY255, and 3 had deletions of sY152, sY254, sY255, and sY157. AZFb microdeletions (sY127, sY134, and sY143) were found in 1 patient. AZF microdeletions had no adverse effects on the clinical pregnancy, implantation or delivery rates, birth weight, gestational age, or sex ratio when compared with the control group. Overall, the multiple gestation and preterm delivery rates of the AZF microdeletion group were similar to those in the control group. CONCLUSION: Men with AZF microdeletions can achieve the delivery of healthy children using ICSI. In this series, it produced good implantation rate and obstetric and perinatal outcomes.


Assuntos
Azoospermia/terapia , Infertilidade Masculina/terapia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia , Injeções de Esperma Intracitoplásmicas/métodos , Adulto , Azoospermia/genética , Deleção Cromossômica , Cromossomos Humanos Y/genética , Feminino , Humanos , Recém-Nascido , Infertilidade Masculina/genética , Masculino , Gravidez , Resultado da Gravidez , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Resultado do Tratamento
16.
Mar Pollut Bull ; 149: 110569, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31546109

RESUMO

This study involved an assessment of the levels of microplastic pollution in seven small-scale estuaries in Shanghai for the first time. The abundance of microplastics ranged from 13.53 ±â€¯4.6 to 44.93 ±â€¯9.41 particles L-1, with a mean abundance of 27.84 ±â€¯11.81 particles L-1. Microplastics collected from samples were classified into four types (fiber, film, granule, and fragment), and granules were the most abundant type. Up to 99.5% of microplastics were <2 mm in diameter. The microplastics had a variety of colors, with black being the dominant color. Polypropylene (37.5%) and polyethylene (50%) were the main types of microplastic component validated. Our study showed severe microplastic pollution in small-scale estuaries, and the associated rivers need urgent attention for microplastic pollution prevention.

17.
Prenat Diagn ; 39(12): 1120-1126, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31461790

RESUMO

INTRODUCTION: Pure duplication of chromosome 18p is rare, with clinical phenotypes ranging from normal or slight abnormalities to various degrees of mental retardation. It remains difficult to establish a clear genotype-phenotype correlation. METHODS: Chromosomal karyotyping analysis was performed on cultured amniotic fluid cells from three cases. Single nucleotide polymorphism (SNP) array analysis was carried out using the Illumina Human CytoSNP-12 BeadChip. We also carried out a review of the literature regarding 18p11 microduplication. RESULTS: G-banding analysis showed that the three cases had normal karyotypes. SNP array results showed 0.48- to 1.6-Mb microduplications of 18p11.31-p11.22 (chr18: 6995739-8713088) in these cases, encompassing different degrees of LAMA1 duplication. Follow-up analysis showed that the parents of both cases 1 and 2 chose termination of pregnancy. Case 3 presented with normal growth and physical development. Currently, there is not enough evidence supporting the pathogenicity of LAMA1 triplosensitivity. CONCLUSION: We described three prenatal cases with 18p11.31-p11.22 microduplications involving part of the LAMA1 locus. There might be phenotypic diversity associated with 18p11.31-p11.22 microduplications. To avoid unnecessary abortions for pregnancies such as these, comprehensive genetic counseling should be offered.

18.
Am J Transl Res ; 11(7): 4382-4396, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31396343

RESUMO

Burkitt's lymphoma (BURK), diffuse large B-cell lymphoma (DLBCL) and mantle cell lymphoma (MCL) are three main types of B-cell lymphomas. This study aimed to compare the differences of affected biological functions and pathways, as well as to explore the possible regulatory mechanisms and the potential therapeutic targets in BURK, DLBCL and MCL. We performed an integrated analysis of 10 lymphoma datasets including 352 BURK patients, 880 DLBCL patients, 216 MCL patients, and 33 controls. Our results showed that signaling pathways, amino acid metabolism and several lipid metabolism pathways varies considerably among these three types of lymphoma. Furthermore, we identified several key transcription factors (TFs) and their target genes that may promote these diseases by influencing multiple carcinogenic pathways. Among these TFs, we reported first that E2F8 displayed the most significant effects in BURK and MCL. Our results demonstrate that over-expression of E2F8 activates target genes that may promote cell cycle, mitosis, immune and other cancer related functions in BURK and MCL. Therefore, we suggest that E2F8 could be used as a biomarker and potential therapeutic target for BURK and MCL. These findings would be helpful in the study of pathogenesis, and drug discovery and also in the prognosis of B cell lymphomas.

19.
Med Sci Monit ; 25: 5801-5812, 2019 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-31377750

RESUMO

BACKGROUND This study aimed to screen common and low-frequency variants of nonobstructive azoospermia (NOA)-associated genes, and to construct a database for NOA-associated single nucleotide variants (SNVs). MATERIAL AND METHODS Next-generation sequencing of 466 NOA-associated genes was performed in 34 patients with NOA (mean age, 29.06±4.49 years) and 40 sperm donors (mean age, 25.08±5.75 years) from the Han population of northeast China. The SNV database was constructed by summarizing NOA non-negatively-associated SNVs showing statistical differences between NOA cases and controls, and then selecting low-frequency variants using Baylor's pipeline, to identify statistically valid SNVs. RESULTS There were 65 SNVs identified that were significantly different between both groups (p<0.05). Five genetic variants showed positive correlations with NOA: MTRR c.537T>C (rs161870), odds ratios (OR), 3.686, 95% confidence interval (CI), 1.228-11.066; MTRR, c.1049A>G (rs162036), OR, 3.686, 95% CI, 1.228-11.066; PIWIL1, c.1580G>A (rs1106042), OR, 4.737, 95% CI, 1.314-17.072; TAF4B, c.1815T>C (rs1677016), OR, 3.599, 95% CI, 1.255-10.327; and SOX10 c.927T>C (rs139884), OR, 3.192, 95% CI, 1.220-8.353. Also, 52 NOA non-negatively associated SNVs and 39 SNVs were identified by Baylor's pipeline and selected for the SNV database. CONCLUSIONS Five genetic variants were shown to have positive correlations with NOA. The SNV database constructed contained NOA non-negatively associated SNVs and low-frequency variants. This study showed that this approach was an effective strategy to identify risk alleles of NOA.

20.
Exp Ther Med ; 18(2): 1267-1275, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31363371

RESUMO

Trisomy 16q is a rare disorder with severe abnormalities, which always leads to early postnatal mortality. It usually results from a parental translocation, exhibiting 16q duplication associated with another chromosomal deletion. The present study reports on the clinical presentation and molecular cytogenetic results of a small-for-gestational-age infant, consisting of partial trisomy 16q21→qter and monosomy 2p25.3→pter. The proband presented with moderately low birthweight, small anterior fontanelles, prominent forehead, low hairline, telecanthus, flat nasal bridge, choanal atresia, clinodactyly of the fifth fingers, urogenital anomalies, congenital muscular torticollis and congenital laryngomalacia. The last two traits have not previously been reported in any trisomy 16q and monosomy 2p cases. The proband was trisomic for the 16q21→qter chromosomal region with the karyotype 46,XY,der(2)t(2;16)(p25;q21)pat. The chromosomal anomaly was the result of unbalanced segregation of a paternal balanced translocation, 46,XY,t(2;16)(p25;q21). In this case, molecular cytogenetic analysis had a critical role in delineating the proband's clinical phenotype. Although this patient had a 16q21→qter duplication and a 2p25.3→pter deletion, the latter may have had mild phenotypic effects when associated with trisomy 16q. The literature was also reviewed, focusing on cases with the same breakpoints, localizations and clinical features reported in recent years.

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