Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 26
Filtrar
1.
Artigo em Inglês | MEDLINE | ID: mdl-38940328

RESUMO

Inspired by the charge-governed protein channels located in the cell membrane, a series of polyether ether ketone-based polymers with side chains containing ionically cross-linkable quaternary ammonium groups and acidic groups have been designed and synthesized to prepare monovalent cation-selective membranes (MCEMs). Three acidic groups (sulfonic acid, carboxylic acid, and phenolic hydroxyl) with different acid dissociation constant (pKa) were selected to form the ionic cross-linking structure with quaternary ammonium groups in the membranes. The ionic cross-linking induced the nanophase separation and constructed ionic channels, which resulted in excellent mechanical performance and high cation fluxes. Interesting, the cation flux of membranes increased as the ionization of acidic groups increase, but the selectivity of MCEMs did not follow the same trend, which was mainly dependent on the affinity between the functional groups and the cations. Carboxyl group-containing MCEMs exhibited the best selectivity (9.01 for Li+/Mg2+), which was higher than that of the commercial monovalent cation-selective CIMS membrane. Therefore, it is possible to prepare stable MCEMs through a simple process using ionically cross-linkable polymers, and tuning acidic groups in the membranes provided an attractive approach to improving the cation flux and selectivity of MCEMs.

2.
ACS Appl Mater Interfaces ; 16(5): 6632-6643, 2024 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-38272023

RESUMO

Achieving separation of lithium and magnesium with similar radii is crucial for the current lithium extraction technology from salt lakes, which usually possess a high lithium-to-magnesium ratio. Herein, we proposed the facile sequential interfacial polymerization (SIP) approach to construct electronanofiltration membranes (ENFMs) with a bilayer charged structure consisting of a high positively charged surface and a negatively charged sublayer. The trimesoyl chloride (TMC) concentration was adjusted to enhance the -COOH content and negative charge of the polyamide sublayer to promote Li+ migration, and then the quaternized polyethylenimine was introduced to the membrane surface by the SIP process to increase the positive charge density on the surface of the ENFMs, which would block the migration of Mg2+ and enhance the Li+/Mg2+ selectivity of the ENFMs. The optimal quaternary-modified ENFMs achieved outstanding selectivity for Li+/Mg2+ (49.85) and high Li+ flux (4.10 × 10-8 mol cm-2 s-1) at a current density of 10 mA cm-2. Moreover, in simulated brines with low lithium concentration and high Mg2+/Li+ ratio, the optimal ENFMs also displayed elevated Li+/Mg2+ selectivity (>45), highlighting the substantial promise of the membranes for practical applications.

3.
Mar Pollut Bull ; 190: 114863, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36989599

RESUMO

Developing effective marine water quality criteria (WQC) is crucial for controlling marine contamination and protecting marine life. The WQC for copper is urgently needed due to the toxicity and widespread of copper contamination. In this work, both short-term water quality criteria (SWQC) and long-term water quality criteria (LWQC) under 10 % effect endpoints were derived by using the model averaging of species sensitivity distribution (SSD10) method for Bohai Bay. The WQC values were obtained directly from the hazardous concentration for 5 % of species (HC5) values, which removes the influence of arbitrary assessment factor (AF). Modifications to the acute-chronic ratio (ACR) strategies and the inclusion of the test toxicity data of local species also improved the accuracy and applicability of the WQC values. The derived SWQC and LWQC were 2.21 and 0.45 µg/L, respectively. Furthermore, the overall risk level of copper in Bohai Bay was evaluated by using the risk quotient (RQ) method, and the results showed it was at a moderate-low level. This study provides a new approach for the derivation of the WQC for Cu and the risk assessment of Bohai Bay, which is essential for the protection of local aquatic life and provides guidance to the establishment of the national WQC.


Assuntos
Poluentes Químicos da Água , Qualidade da Água , Cobre/análise , Organismos Aquáticos , Baías , Poluentes Químicos da Água/análise , Medição de Risco/métodos , China
4.
Zhongguo Yi Liao Qi Xie Za Zhi ; 46(3): 350-354, 2022 May 30.
Artigo em Chinês | MEDLINE | ID: mdl-35678451

RESUMO

OBJECTIVE: To optimize the maintenance quality management of MRI equipment and ensure the quality and safety of its clinical use. METHODS: The data of failure time and repair time of a MRI equipment in three years were collected by magnetic resonance repair report system, and then the reliability, availability and maintainability(RAM) were studied and analyzed. RESULTS: The results of reliability analysis showed that the communication module was the key subsystem of the MRI equipment. The results of usability analysis showed that RF module was a key subsystem of MRI equipment. Maintainability results showed that the proportion of the MRI equipment not fully utilized due to maintenance-related problems was 2.58%. In order to improve the availability of MRI equipment, the maintenance time of MRI equipment should be shortened. CONCLUSIONS: RAM-based analysis of MRI equipment can help hospital equipment managers to carry out the work of operation optimization, maintenance strategy formulation and safety management of MRI equipment.


Assuntos
Equipamentos e Provisões Hospitalares , Imageamento por Ressonância Magnética , Segurança de Equipamentos , Reprodutibilidade dos Testes , Gestão da Segurança
5.
Environ Pollut ; 308: 119666, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-35750306

RESUMO

Copper has become one of the most important heavy metal pollutants in the environment because of its wide application and high toxicity, but research on water quality criteria (WQCs) on copper is limited, especially the derivation of seawater WQC. In addition, the toxicity of copper in the seawater system is affected by various environmental factors. Therefore, establishing a WQC that meets the characteristics of the regional environment is a top priority. The correlations between four factors of temperature, salinity, pH, dissolved organic carbon (DOC) and the toxic effect values of copper were analyzed in this study, and the temperature was determined as the most influential factor among the four factors in the Bohai Sea. A specific correlation between temperature and the toxic effects of copper was identified, and WQCs were derived based on the identified correlation and the variations of the Bohai Sea's temperature in different seasons by species sensitivity distribution (SSD) method. Under the condition of the winter, spring, autumn, and summer with an average water temperature of 0.09, 15.96, 17.83, and 24.87 °C, the obtained short-term water quality criteria (SWQCs) were 44.29, 4.70, 4.31, and 3.33 µg/L; the long-term water quality criteria (LWQCs) were 18.14, 1.93, 1.77 and 1.36 µg/L. The findings indicated the importance of introducing specific environmental conditions during the derivation process. This work could provide valuable information for pollution prevention and aquatic life protection in the Bohai Sea and provide a valuable reference for the derivation of criteria in other regions alike.


Assuntos
Poluentes Químicos da Água , Qualidade da Água , China , Cobre/análise , Cobre/toxicidade , Monitoramento Ambiental/métodos , Oceanos e Mares , Água do Mar , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/toxicidade
6.
Ecotoxicol Environ Saf ; 241: 113762, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35717770

RESUMO

2,2',4,4'-tetrabromodiphenyl ether (BDE-47) is an emerging toxic organic pollutant widely detected in territorial waters. Accordingly, establishing the seawater quality criteria (SWQC) for BDE-47 is of significant importance to protect the marine ecosystems. In this study, published ecotoxicity data of BDE-47 to aquatic species in China were collected, and acute and chronic toxicity tests were carried out on saltwater aquatic organisms from 5 phyla and 8 families widely existed in the Chinese marine environment. Static acute toxicity tests and renewed chronic toxicity tests were adopted. The scientific theories and technical methods of the United States Environmental Protection Agency (US EPA), Canada, the European Union (EU), and the Netherlands on water quality criteria guidelines, as well as the Chinese freshwater quality criteria guidelines were compared. Then an integrated method of SWQC derivation was introduced through comprehensive consideration. Afterward, the SWQC of BDE-47 was derived based on the ecotoxicity data. The SWQC includes short-term seawater quality criteria (S-SWQC), long-term seawater quality criteria (L-SWQC), and serious risk concentration for the ecosystem (SRCeco). And they were derived and recommended as 7.90 µg/L, 0.217 µg/L, and 3.65 µg/L, respectively. This study served as a specific example to quantitatively studies the differences between different scientific theories and technique methods. The derivation process and improvement of SWQC for BDE-47 provide support for the future revision of water quality criteria in China.


Assuntos
Ecossistema , Poluentes Químicos da Água , Organismos Aquáticos , China , Éteres Difenil Halogenados , Humanos , Água do Mar , Estados Unidos , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/toxicidade , Qualidade da Água
7.
J Environ Manage ; 303: 114124, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34839173

RESUMO

Sustainable utilization has been becoming the core idea of concentrated seawater disposal, which makes the harvest of salinity gradient power based on reverse electrodialysis (RED) become one of the important ways. As the important factors affecting RED performance, different flow orientations along the membrane and solution temperature have been studied in the previous researches. However, there are still some details that need to be clarified. In this study, the inflow mode was further detailed investigated. The results showed that after eliminating the interference of bubbles in the counter-current, the co-current was still better than the counter-current; when the solution of HCC (high concentration compartment) and LCC (low concentration compartment) was circulated for 3 h, the concentration of concentrated seawater discharge liquid was reduced by 6.93%, which was conducive to reducing the negative impact on the marine ecological environment. Meanwhile, the response of salinity gradient power generation to temperature difference was that high temperature had a positive effect on power density, and the order was both the HCC and LCC (0.44 W m-2) > LCC (0.42 W m-2) > HCC (0.39 W m-2). Although the RED performance was more sensitive to the temperature rise of LCC, the positive temperature difference between HCC and LCC is a more practical advantage because the temperature of concentrated seawater in HCC is usually high. These new observations could provide supports for the industrial development of RED in generating electricity economically and reducing the negative environmental impact of concentrated seawater.


Assuntos
Energia Renovável , Salinidade , Água do Mar , Ecossistema , Eletricidade , Temperatura
8.
Asian J Androl ; 23(4): 396-399, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33565428

RESUMO

Optimal vision and ergonomics are essential factors contributing to the achievement of good results during microsurgery. The three-dimensional (3D) digital image microscope system with a better 3D depth of field can release strain on the surgeon's neck and back, which can improve outcomes in microsurgery. We report a randomized prospective study of vasoepididymostomy and vasovasostomy using a 3D digital image microscope system (3D-DIM) in rats. A total of 16 adult male rats were randomly divided into two groups of 8 each: the standard operating microscope (SOM) group and the 3D-DIM group. The outcomes measured included the operative time, real-time postoperative mechanical patency, and anastomosis leakage. Furthermore, a user-friendly microscope score was designed to evaluate the ergonomic design and equipment characteristics of the microscope. There were no differences in operative time between the two groups. The real-time postoperative mechanical patency rates were 100.0% for both groups. The percentage of vasoepididymostomy anastomosis leakage was 16.7% in the SOM group and 25.0% in the 3D-DIM group; however, no vasovasostomy anastomosis leakage was found in either group. In terms of the ergonomic design, the 3D-DIM group obtained better scores based on the surgeon's feelings; in terms of the equipment characteristics, the 3D-DIM group had lower scores for clarity and higher scores for flexibility and adaptivity. Based on our randomized prospective study in a rat model, we believe that the 3D-DIM can improve surgeon comfort without compromising outcomes in male infertility reconstructive microsurgery, so the 3D-DIM might be widely used in the future.


Assuntos
Microcirurgia/normas , Vasovasostomia/instrumentação , Animais , Modelos Animais de Doenças , Microscopia de Vídeo/instrumentação , Microscopia de Vídeo/métodos , Microcirurgia/métodos , Microcirurgia/estatística & dados numéricos , Ratos , Ratos Sprague-Dawley , Vasovasostomia/métodos
9.
Environ Pollut ; 266(Pt 3): 115348, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32841862

RESUMO

The performance of the cathode significantly affects the ability of the electro-Fenton (EF) process to degrade chemicals. In this study, a simple method to modify the graphite felt (GF) cathode was proposed, i.e. oxidizing GF by hydrothermal treatment in nitric acid. The surface physical and electrochemical properties of modified graphite felt were characterized by several techniques: scanning electron microscope (SEM), water contact angle, X-ray photoelectron spectroscopy (XPS), Raman spectroscopy and linear scanning voltammetry (LSV). Compared with an unmodified GF (GF-0), the oxygen reduction reaction (ORR) activity of a modified GF was significantly improved due to the introduction of more oxygen-containing functional groups (OGs). Furthermore, the results showed that GF was optimally modified after 9 h (GF-9) of treatment. As an example, the H2O2 generation by GF-9 was 2.26 times higher than that of GF-0. After optimizing the process parameters, which include the initial Fe2+ concentration and current density, the apparent degradation rate constant of levofloxacin (LEV) could reach as high as 0.40 min-1. Moreover, the total organic carbon (TOC) removal rate and mineralization current efficiency (MCE) of the modified cathode were much higher than that of the GF-0. Conclusively, GF-9 is a promising cathode for the future development in organic pollutant removal via EF.


Assuntos
Grafite , Poluentes Químicos da Água , Eletrodos , Peróxido de Hidrogênio , Ferro , Levofloxacino , Oxirredução , Águas Residuárias
10.
Reprod Sci ; 26(1): 26-34, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29277146

RESUMO

Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease that causes primary infertility. However, the genetic causes for approximately half of MMAF cases are unknown. Whole exome sequencing analysis of the 27 patients with MMAF identified several CFAP44 mutations (3 homozygous: c.2935_2944del: p.D979*, c.T1769A: p.L590Q, c.2005_2006del: p.M669Vfs*13; and putative compound heterozygous: c.G3262A: p.G1088S and c.C1718A: p.P573H.) and CFAP43 acceptor splice-site deletion (c.3661-2A>-) mutations in 5 and 1 patients, respectively. Real-time quantitative polymerase chain reaction assays also demonstrated that CFAP44 expression was very weak in patient (P)1 and P3, and CFAP43 expression was lower in P6 than in the control. Immunofluorescence analysis of CFAP43 showed lower CFAP43 protein expression levels in P6 than in the normal control. This study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause MMAF. These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF.


Assuntos
Infertilidade Masculina/genética , Proteínas dos Microtúbulos/genética , Proteínas Nucleares/genética , Peptídeo Hidrolases/genética , Cauda do Espermatozoide/patologia , Adulto , Proteínas do Citoesqueleto , Humanos , Infertilidade Masculina/patologia , Masculino , Mutação , Sequenciamento do Exoma
11.
Andrologia ; 51(1): e13151, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30251428

RESUMO

Multiple morphological abnormalities of the sperm flagella (MMAF) are a rare type of male infertility. Mutations in DNAH1, CFAP43 and CFAP44 are the main aetiology of the disorder. Previously, good intracytoplasmic sperm injection (ICSI) outcomes were reported for MMAF patients with DNAH1 mutations. However, the ICSI prognosis for MMAF patients with CFAP43 or CFAP44 mutations was not known. We designed a retrospective cohort study. Molecular genetic testing identified six MMAF patients with biallelic CFAP44 (CFAP44+ group) or CFAP43 mutations and 12 patients with homozygous or compound heterozygous DNAH1 mutations (DNAH1+ group). A control group consisted of age-matched, non-MMAF men. For MMAF patients carrying CFAP44 mutations, the recorded rates of fertilisation, transferable embryos, pregnancy and delivery after ICSI were 76.47%, 88.46%, 50.0% and 50.0% respectively. The fertilisation rate was significantly higher in the CFAP44+ group than in the DNAH1+ group (76.47% vs. 54.5%, p = 0.0196). There were no statistically significant differences in the rates of transferable embryos, implantation, clinical pregnancy and miscarriage between the CFAP44+ group and either the DNAH1+ group or the age-matched control group. Our results support a good ICSI prognosis for MMAF patients carrying CFAP44 or CFAP43 mutations.


Assuntos
Fertilização/fisiologia , Infertilidade Masculina/genética , Proteínas dos Microtúbulos/genética , Mutação , Proteínas Nucleares/genética , Peptídeo Hidrolases/genética , Cauda do Espermatozoide/fisiologia , Espermatozoides/citologia , Adulto , Forma Celular/genética , Proteínas do Citoesqueleto , Transferência Embrionária , Feminino , Humanos , Masculino , Gravidez , Resultado da Gravidez , Taxa de Gravidez , Injeções de Esperma Intracitoplásmicas
12.
Gene ; 663: 126-130, 2018 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-29684482

RESUMO

Complex balanced autosomal translocation is rare and can lead to impaired spermatogenesis in males; however, its effects on oligozoospermia have rarely been reported. We report here two cases of rare complex balanced translocation in men with infertility. The karyotype of the first case was 46,XY,der(1)t(1;12)(p22;p11.2)ins(9;1)(p24;q25q23),der(9)ins(9;1),der(12)t(1;12)·ish der(1)t(1;12)(RP11-636B1+;RP11-659D23+)ins(9;1)(RP11-118P13+),der(9)ins(9;1),der(12)t(1;12). And the patient showed severe oligozoospermia with adult schizophrenia without other abnormalities. The karyotype of the second patient was 46,XY,der(5)t(5;11)(q14;p11.2),der(11)t(11;18)(p11.2;q11.2),der(18)t(5,18)(q14;p11.3)add(18)(q11.2?)·ish der(5)t(5;11)(RP11-846K3+,RP11-89B9+),der(11)t(11;18)(RP11-89B9-,RP11-170L12+,RP11-469N6+),der(18)t(5;18)(RP11-125L2+,RP11-29M13+)add(18)(q11.2?), and the patient displayed severe oligozoospermia without other abnormalities. The two cases were verified by fluorescent in situ hybridization, and no abnormalities were found by genome-wide copy number variation analysis. To our knowledge, these two cases of complex autosomal karyotypes have not been reported previously. Although rare, these cases suggest that complex balanced translocations may be important causes of oligozoospermia. We speculate that the balanced translocation hinders germ cell meiosis and causes impaired spermatogenesis. Accordingly, the two reported patients have very low probabilities of giving birth to a normal child; therefore, we suggest choosing donor semen or adopting a child.


Assuntos
Cromossomos/genética , Cariotipagem/métodos , Oligospermia/genética , Translocação Genética , Adulto , Humanos , Hibridização in Situ Fluorescente/métodos , Masculino , Oligospermia/complicações , Esquizofrenia/genética
13.
Syst Biol Reprod Med ; 64(3): 202-206, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29658329

RESUMO

Kallmann syndrome (KS) is a rare clinical and genetic heterogeneity disease, which is familial or sporadic. KS is known to have three patterns of inheritance: X linked recessive inheritance, autosomal dominant inheritance and rare autosomal recessive inheritance. Here, we report a sibling pedigree with autosomal dominant inheritance of KS, and we identified a novel heterozygous frameshift mutation c.299_300insCCGCAGACTCCGGCCTCTATGC (p.C101Rfs*17) in FGFR1 gene using whole-exome sequencing (WES). The mutation and affection status were cosegregated. The mutation is not present in the dbSNP, 1000 Genome, ExAC, and gnomAD databases. The discovery of this new mutation in the FGFR1 gene enriches the spectrum of FGFR1 mutations in patients with KS. ABBREVIATIONS: FGFR1: fibroblast growth factor receptor 1; HH: hypogonadotropic hypogonadism; KS: Kallmann syndrome; MRI: magnetic resonance imaging; WES: whole-exome sequencing.


Assuntos
Síndrome de Kallmann/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Adulto , Análise Mutacional de DNA , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino
14.
Gene ; 659: 84-88, 2018 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-29551503

RESUMO

Oligoasthenoteratozoospermia (OAT) is characterized as low sperm count, decreased sperm motility and structural abnormalities of the sperm head in the same patient. However, very few studies reported the genetic alterations associated with OAT. Here we report a 38-year-old patient with OAT from a consanguineous family, with 2-6 million/mL sperm density, 2.1-3.8% normal sperm morphology and immotile sperm. Whole-exome sequencing (WES) identified homozygous variant c.1259A>G:p.Y420C in the TDRD6 gene. TDRD6 is a testis-specific expressed protein that was localized to the chromatoid bodies in germ cells and played an important role in the nonsense-mediated decay pathway. This rare variant co-segregated with the OAT phenotype in this family. Bioinformatic analysis also suggested the variant a pathogenic mutation. Two intracytoplasmic sperm injection (ICSI) cycles were carried out in the patient's wife, but she did not become pregnant after embryo transfer. So the mutations in TDRD6 may be associated with human male infertility and early embryonic lethality.


Assuntos
Oligospermia/genética , Polimorfismo de Nucleotídeo Único , Ribonucleoproteínas/genética , Adulto , Consanguinidade , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Degradação do RNAm Mediada por Códon sem Sentido , Especificidade de Órgãos , Linhagem , Gravidez , Testículo/química , Sequenciamento do Exoma
15.
J Cancer Res Ther ; 14(Supplement): S138-S144, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29578164

RESUMO

BACKGROUND: This study aims to investigate the correlations of positive rate of phosphatase and tensin homolog (PTEN) protein with lymph node metastasis (LNM) and tumor node metastasis (TNM) staging of nonsmall cell lung cancer (NSCLC) patients by conducted a meta-analysis. MATERIALS AND METHODS: Covering several electronic databases (Embase, Cochrane Library, China BioMedicine, China National Knowledge Infrastructure, PubMed, and Web of Science), published papers eligible for enrollment in the current meta-analysis had to fulfill our predefined selection criteria. Odds ratios (ORs) with their 95% confidence interval (95%CI) were aggregated utilizing comprehensive meta-analysis 2.0 software (Biostatic Inc., Englewood, New Jersey, USA). RESULTS: Twelve cohort studies with a total of 419 NSCLC patients were incorporated into the current meta-analysis. A decreased positive rate of PTEN protein was detected in NSCLC patients with TNM stage III-IV rather than those patients with TNM stage I-II (OR = 0.454, 95%CI = 0.338-0.610, P < 0.001). PTEN in NSCLC patients without LNM expressed higher than that in the patients with LNM (OR = 0.532, 95%CI: 0.299-0.948, P = 0.032). Ethnicity-stratified analysis demonstrated a negative relationship between positive rate of PTEN protein and TNM staging of NSCLC among both Asians and Caucasians (both P < 0.05). However, we found no significant association between positive rate of PTEN protein and LNM among Asians and Caucasians (both P > 0.05). CONCLUSION: Our findings indicate that decreased positive rate of PTEN protein may be linked to TNM staging and LNM in NSCLC, and it could be an important diagnostic biomarker of NSCLC.


Assuntos
Carcinoma Pulmonar de Células não Pequenas/metabolismo , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/metabolismo , Neoplasias Pulmonares/patologia , Linfonodos/patologia , PTEN Fosfo-Hidrolase/metabolismo , Biomarcadores Tumorais , Humanos , Metástase Linfática , Estadiamento de Neoplasias , Razão de Chances , PTEN Fosfo-Hidrolase/genética , Viés de Publicação
16.
Oncotarget ; 9(2): 2086-2091, 2018 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-29416755

RESUMO

We report here a 28-year-old male with infertility. No abnormality was found in his semen examination. The couple achieved a successful pregnancy under the help of intracytoplasmic sperm injection during which we found that sperm could enter the zona pellucida, but could not fuse with the egg within the short insemination period. We then performed whole-exome sequencing technology on this patient and found a rare variant (c.641A>C:p.D214A) in ADAM20, which encoded a disintegrin and metalloprotease 20 protein. To further verify the pathogenicity of this variant, we analyzed ADAM20 protein expression in spermatozoa by immunostaining analysis, which showed a mis-localization of ADAM20 in the patient's spermatozoa. Therefore, we concluded that mutation in ADAM20 may be associated with sperm-egg fusion disorder in this patient.

17.
Gene ; 647: 221-225, 2018 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-29331481

RESUMO

Acephalic spermatozoa is an extremely rare disease associated with primary infertility. A recent study showed that genetic alterations in the SUN5 gene lead to this disease, and SUN5 mutations could explain the disease in about half of the patients. Therefore, in the present study, to re-visit the genetic contribution of SUN5 mutations to acephalic spermatozoa, we recruited 15 unrelated affected individuals and screened the SUN5 gene for mutations by whole-exome sequencing (WES) and Sanger sequencing. Five of the 15 (33.33%) subjects were found to carry the same homozygous mutation in the SUN5 gene c.381delA (p.V128Sfs*7). Neither homozygous nor compound heterozygous mutations in SUN5 were found in the other 10 patients. The c.381delA mutation resulted in the truncation of the SUN5 protein and decreased the expression and altered the distribution of the outer dense fiber 1 (ODF1) protein. Thus, in our study SUN5 mutations accounted for only one-third of the patients in our cohort, which is lower than the percentage reported previously. Thus, our study suggests that the contribution of SUN5 mutations to acephalic spermatozoa might not be as high as described previously. These results will help in the genetic counseling of patients with acephalic spermatozoa.


Assuntos
Mutação/genética , Proteínas/genética , Espermatozoides/metabolismo , Adulto , China , Estudos de Coortes , Exoma/genética , Proteínas de Choque Térmico/genética , Heterozigoto , Homozigoto , Humanos , Infertilidade Masculina/genética , Masculino , Proteínas de Membrana , Análise de Sequência de DNA/métodos
19.
Gene ; 639: 106-110, 2018 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-29017965

RESUMO

Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.G386T:p.G129V), an X-linked gene. HAUS7 has been reported to play a role in the meiotic maturation and chromosome alignment of germ cells. The two patients inherited this variant from their mother, and this variant was considered to be a highly pathogenic mutation by in silico analysis. Moreover, in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) was carried out in both the proband's wife and the brother's wife, but they failed to become pregnant after the embryo transfers. Therefore, this novel mutation in HAUS7 gene may be associated with severe oligozoospermia.


Assuntos
Proteínas de Ciclo Celular/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação , Oligospermia/genética , Adulto , Feminino , Humanos , Infertilidade Masculina/genética , Masculino , Linhagem , Gravidez , Resultado da Gravidez , Técnicas de Reprodução Assistida , Sequenciamento do Exoma
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA