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1.
Environ Res ; 183: 109157, 2020 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-32006768

RESUMO

Microbial reduction of sulfate and metal were simultaneously enhanced in the presence of graphene oxide (GO)-like nanomaterials, however, the mechanism remained unclear. In this study, bio-reduction of Cr was compared between free-living bacterium BY7 and immobilized BY7 (BY-rGO) on reduced GO particles. The role of extracellular polymeric substances (EPS) and rGO material on reduction of sulfate and Cr was investigated. Cr(VI) was reduced to Cr(III) and elemental Cr by BY-rGO particles up to 51% and 28%, respectively. EPS produced by the bacterium BY7 mainly consisted of proteins, polysaccharides, nucleic acids and humic substances. Concentration of EPS was sharply increased (about 54%) with the addition of graphene oxide, while the composition of EPS components was strongly affected by the exposure to Cr. By removing surface EPS without breaking the cells, reduction activities of sulfate and chromium by both BY-rGO particles and free-living BY7 cells were decreased. In contrast, reduction of sulfate and Cr by the free-living BY7 cells was enhanced with external addition of extracted EPS. Based on electrochemical analysis, the reduction peak indicating enhanced electron transfer was lost after removing EPS. Moreover, the contribution of each EPS fractions on sulfate and Cr reduction followed an order of polysaccharides > proteins > humic substances. Therefore, microbial sulfate and Cr reduction processes in the presence of BY-rGO particles were enhanced by the increasing amounts of EPS, which likely mediated electron transfer during sulfate and Cr reduction, and relieved bacteria from metal toxicity. Nevertheless, the presence of rGO was crucially important for elemental Cr production under sulfate-reducing condition, which might contribute to lowering electric potential or reducing activation energy for Cr(III) reduction. This work provided direct evidences for enhancing sulfate and Cr reduction activities by supplement of EPS as an additive to increase treatment efficiency in environmental bioremediation.

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.
Sci Total Environ ; 698: 134166, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31494421

RESUMO

The development of efficient and regenerable adsorbent coupled with advanced oxidation for enhanced thallium (Tl) removal has been a recent focus on wastewater treatment. In this study, a magnetite-based biochar derived from watermelon rinds was synthesized and used as a sustainable adsorbent and catalyst for hypochlorite oxidation and removal of Tl(I) from wastewater. The addition of hypochlorite substantially enhanced the Tl(I) removal under normal pH range (6-9). Maximum Tl adsorption capacity of 1123 mg/g was achieved, which is 12.3% higher than the highest value previously reported. The magnetic biochar can be regenerated using 0.1 mol/L HNO3 solution for elution in only 5 min, with a Tl desorption efficiency of 78.9%. The Tl removal efficiency was constantly higher than 98.5% during five consecutive recycle tests, indicating the effective reuse performance of the adsorbent. Oxidation, surface precipitation, pore retention and surface complexation were the main mechanisms for Tl(I) removal. The re-dissolution of Tl compounds and ion exchange of Tl cations with proton were the main mechanisms for adsorbent regeneration. Given the fast oxidation rate, high adsorption capacity, steady reusability and facile separability, this magnetic biochar-hypochlorite technique is a promising means for Tl(I) removal from wastewater. The catalytic hypochlorite oxidation induced by the magnetic biochar has also great potential to the effective removal of other pollutants.


Assuntos
Carvão Vegetal/química , Óxido Ferroso-Férrico/química , Tálio/análise , Eliminação de Resíduos Líquidos/métodos , Poluentes Químicos da Água/análise , Adsorção , Ácido Hipocloroso , Tálio/química , Águas Residuárias , Poluentes Químicos da Água/química
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.
Medicine (Baltimore) ; 98(49): e18183, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31804336

RESUMO

RATIONALE: The recently increased rate of heterotopic pregnancies (HPs) has been largely attributed to the increased use of assisted reproduction technologies (ARTs). HP is a rare and potentially life-threatening condition. It is unusual in natural conception cycles, occurring in 1:10,000 to 1:50,000 pregnancies. However, with the increased use of ART such as in vitro fertilization and embryo transfer (IVF-ET), the incidence has risen to 0.5-1%. PATIENT CONCERNS: Case 1 was a 28-year-old woman who presented to our center complaining of a sudden onset of right-side lower abdominal pain with a small amount of vaginal bleeding. She had undergone IVF-ET and received a thawed embryo transfer with two embryos 23 days previously. She had a history of right salpingectomy for an ectopic pregnancy during the downregulation of her ovulatory cycle 1 year ago. Case 2 was a 25-year-old woman who presented to our center complaining of a sudden onset of right-side lower abdominal pain. She had also undergone thawed embryo transfer following IVF-ET with two embryos 35 days previously. She had a history of right salpingectomy for an ectopic pregnancy 1.5 years previously. DIAGNOSES: Both patients were diagnosed as having a heterotopic pregnancy. INTERVENTIONS: Patient 1 underwent emergency laparoscopy; patient 2 underwent emergency laparotomy and both were treated medically to prevent abortion of the intrauterine pregnancies. OUTCOMES: Patient 1 had an incomplete abortion and underwent uterine curettage on the day 10 after the operation. Patient 2 experienced no further complications during pregnancy and a healthy baby girl was born at the 38th gestational week. LESSONS: Reproductive physicians need to pay more attention to patients who have received more than one embryo at transfer, especially those with a history of salpingectomy.


Assuntos
Transferência Embrionária/efeitos adversos , Fertilização In Vitro/efeitos adversos , Gravidez Heterotópica/etiologia , Adulto , Feminino , Humanos , Gravidez , Gravidez Heterotópica/cirurgia , Salpingectomia
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.
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
9.
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.

10.
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.

11.
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
12.
Environ Pollut ; 254(Pt A): 112891, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31408794

RESUMO

The effluents from nuclear mining processes contain relatively high content of radionuclides (such as uranium), which may seriously threaten the environment and human health. Herein, a novel adsorbent, porous hydroxyapatite, was prepared and proven highly efficient for removal of uranyl ions (U(VI)) given its high U(VI) uptake capacity of 111.4 mg/g, fast adsorption kinetics, and the potential stabilization of adsorbed U(VI). A nearly complete removal of U(VI) was achieved by porous HAP under optimized conditions. Langmuir model could well describe the adsorption equilibrium. The data fit well with pseudo-second-order kinetic model, suggesting that U(VI) adsorption is primarily attributed to chemisorption with porous HAP. Intraparticle diffusion analysis showed that the intraparticle diffusion is the rate-limiting step for U(VI) adsorption by porous HAP. After removal by porous HAP, the adsorbed U(VI) ions were incorporated into tetragonal autunite, which has a low solubility (log Ksp: -48.36). Our findings demonstrate that the porous HAP can effectively remediate uranium contamination and holds great promise for environmental applications.


Assuntos
Durapatita/química , Mineração , Urânio/química , Poluentes Radioativos da Água/química , Adsorção , Difusão , Íons , Cinética , Porosidade , Urânio/análise
13.
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.

14.
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.

15.
Medicine (Baltimore) ; 98(30): e16661, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31348322

RESUMO

RATIONALE: Small supernumerary marker chromosomes (sSMCs) can be usually discovered in the patients with mental retardation, infertile couples, and prenatal fetus. We aim to characterize the sSMC and explore the correlation between with sSMC and male infertility. PATIENT CONCERNS: A 26-year-old Chinese male was referred for infertility consultation in our center after 1 year of regular unprotected coitus and no pregnancy. DIAGNOSIS: Cytogenetic G-banding analysis initially described a mosaic karyotype 47,X,Yqh-,+mar[28]/46,X,Yqh-[22] for the proband, while his father showed a normal karyotype. The chromosome microarray (CMA) analysis showed there existed a duplication of Yp11.32q11.221, a deletion of Yq11.222q12, a duplication of 20p11.1 for the patient. Azoospermia factor (AZF) microdeletion analysis for the patient showed that he presented a de novo AZFb+c deletion. Fluorescence in situ hybridization further confirmed the sSMC was an sSMC(Y) with SRY signal, Y centromere, and Yq deletion. INTERVENTIONS: The patient would choose artificial reproductive technology to get his offspring according to the genetic counseling. OUTCOMES: The sSMC in our patient was proved to be an sSMC(Y), derived from Yq deletion. The spermatogenesis failure of the proband might be due to the synthetic action of sSMC(Y) mosaicism and AZFb+c microdeletion. LESSONS: It is nearly impossible to detect the chromosomal origin of sSMC through traditional banding techniques. The molecular cytogenetic characterization could be performed for identification of sSMC so that comprehensive genetic counseling would be offered.


Assuntos
Azoospermia/genética , Mosaicismo , Adulto , Análise Citogenética , Humanos , Hibridização in Situ Fluorescente , Cariótipo , Masculino
17.
Medicine (Baltimore) ; 98(26): e16209, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31261571

RESUMO

It is not clear whether age has any influence on the outcomes for sperm used for assisted reproductive technology in cryptozoospermic men. We evaluated intracytoplasmic sperm injection (ICSI) outcomes using ejaculated or testicular sperm in men with cryptozoospermia from different paternal age ranges.We conducted a retrospective observational study of 35 men with cryptozoospermia who underwent ICSI from 2010 to 2018. They were classified into 2 groups based on male age, namely < 35 years and ≥ 35 years. Each group was further divided into 2 subgroups according to the origin of sperm (ejaculated or testicular).In the <35 years group, the normal fertilization and high-quality embryo rates for ejaculated sperm were significantly higher than with testicular sperm (74.7% vs. 62.4%, P = .02; 50.5% vs. 36.6%, P = .03, respectively). However, in the ≥35 years group, the high-quality embryo and clinical pregnancy rates were significantly lower in the ejaculated sperm subgroup than in the testicular sperm subgroup (26.2% vs. 63%, P = .002; 12.5% vs. 71.4%, P = .04, respectively).This study indicates that ICSI should be performed as soon as possible for men with cryptozoospermia. When the paternal age ≥35 years, testicular sperm should be used for ICSI, as this offers better high-quality embryo and clinical pregnancy rates.


Assuntos
Oligospermia , Idade Paterna , Injeções de Esperma Intracitoplásmicas , Adulto , Ejaculação , Feminino , Humanos , Masculino , Gravidez , Taxa de Gravidez , Estudos Retrospectivos , Recuperação Espermática , Testículo
18.
Biosci Rep ; 39(6)2019 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-31160482

RESUMO

Reduced or no progressive sperm motility in the fresh ejaculate defines asthenozoospermia as one of the major causes of male infertility. The axonemal heavy chain dynein type 11 (DNAH11) gene encodes for one of the axonemal dynein heavy chain (DHC) family members and participates in assembling respiratory cilia and sperm flagella. Given the high degree of conservation of DNAH11, mutations could give rise to primary ciliary dyskinesia (PCD) and asthenozoospermia. To date, few studies have reported on the association between variants in DNAH11 and asthenozoospermia. In the present study, 87 patients with idiopathic asthenozoospermia for variants in DNAH11 were screened by using high-throughput targeted gene sequencing technology. Bioinformatics analysis was further assessed. We found compound heterozygous variants (c.9484-1 G>T, c.12428 T>C) of DNAH11 detected in 1 of 87 patients. The variant c.9484-1 G>T was confirmed as a novel virulence variant which was predicted to affect splicing by Human Splicing Finder 3.1. And c.12428 T>C was predicted to be mildly pathogenic in silico analysis. We found that DNAH11 polymorphisms display strong associations with asthenozoospermia, and may contribute to an increased risk of male infertility in Chinese patients.

19.
Med Sci Monit ; 25: 4423-4429, 2019 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-31198195

RESUMO

BACKGROUND Genetic defects are commonly observed in infertile males, although the majority of cases remain idiopathic. In recent years, the relationship between single-nucleotide polymorphisms (SNPs) and male infertility has received increasing attention. The objective of this study was to explore the relationship between non-obstructive azoospermia (NOA) and single-nucleotide polymorphisms in the angiotensin-converting enzyme gene (ACE) using ligase detection reaction (LDR)-PCR. MATERIAL AND METHODS A retrospective study was performed and we screened 4 ACE SNPs (rs4316, rs4331, rs4343, and rs4362) in 121 NOA cases and 256 control subjects by LDR-PCR. The relationship between SNPs and NOA was analyzed. RESULTS ACE SNPs were in Hardy-Weinberg equilibrium (P=0.089 for rs4331, P=0.089 for rs4343, P=0.089 for rs4316, and P=0.381 for rs4362). The allelic and genotypic frequencies of the 4 SNPs were not significantly different between cases and controls (P=0.123 for rs4331, P=0.123 for rs4343, P=0.123 for rs4316, and P=0.179 for rs4362). Haplotype analysis showed the existence of 3 haplotypes, TGAC, CAGT, and TGAT, which showed statistical significance of 0.889, 0.889, and 0.781, respectively, between cases and controls. CONCLUSIONS No significant association was found between ACE SNPs rs4316, rs4331, rs4343, or rs4362 and NOA in the Chinese Han population of Northeast China.


Assuntos
Azoospermia/genética , Peptidil Dipeptidase A/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Grupos Étnicos/genética , Frequência do Gene/genética , Estudos de Associação Genética/métodos , Predisposição Genética para Doença , Genótipo , Haplótipos/genética , Humanos , Infertilidade Masculina/genética , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Peptidil Dipeptidase A/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Estudos Retrospectivos
20.
Waste Manag ; 87: 814-824, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-31109586

RESUMO

This study first examined the phase transformation in the reactive sintering systems of cadmium-laden industrial sludge and Al-Si-rich precursors with different Cd/Al/Si molar ratios under various temperatures. X-ray diffraction results indicated that the Cd started to be incorporated at 750 °C by kaolinite or mullite (calcined from kaolinite). Three hours of processing at 950 °C can effectively incorporate Cd into Cd-Al-Si or Cd-Si materials. The amount of CdO in the reactive systems had significant influences on the Cd incorporation behavior into crystalline phases. With a small amount of CdO, product phase CdAl2Si2O8 dominated in the systems. Systems with considerable CdO produced notable amounts of Cd2SiO4 and Cd3SiO5. The production of Cd2SiO4 and Cd3SiO5 from CdO + mullite was more significant than that using kaolinite due to the preferred reaction between CdO and SiO2. To assess the effect of metal stabilization, single-phase products that host Cd (namely, CdAl2Si2O8, Cd2SiO4, and Cd3SiO5) were obtained, maintained at pH 4.0, and subjected to a constant-pH leaching test (CPLT) for 120 min. CPLT results evidently indicated that these phases were remarkably resistant to substantial acid (nitric acid) attack; the leaching behavior of CdAl2Si2O8 was incongruent dissolution. Finally, cadmium can be effectively incorporated into CdAl2Si2O8, Cd2SiO4, or Cd3SiO5 by using sludge ash from a secondary sewage treatment works, suggesting that precursors enriched with Al and Si can be promising materials in a cleaner production process for treating cadmium-laden industrial sludge.


Assuntos
Cádmio , Caulim , Silicatos de Alumínio , Esgotos , Dióxido de Silício , Temperatura Ambiente
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