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1.
Environ Sci Pollut Res Int ; 31(17): 25046-25058, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38466387

RESUMEN

Regarding the impact of microplastics (MPs) on the male reproductive system, previous studies have identified a variety of MPs in both human semen and testicular samples. These studies have put forward the hypothesis that small particles can enter the semen through the epididymis and seminal vesicles. Here, we performed qualitative and quantitative analyses of MPs in human testis, semen, and epididymis samples, as well as in testis, epididymis, seminal vesicle, and prostate samples from mice via pyrolysis-gas chromatography/mass spectrometry (Py-GC/MS). The goal of this approach was to comprehensively characterize the distribution of MPs within the male reproductive system. Additionally, we aimed to evaluate potential sources of MPs identified in semen, as well as to identify possible sources of overall MP exposure. Our results highlighted a general atlas of MPs in the male reproductive system and suggested that MPs in semen may originate from the epididymis, seminal vesicles, and prostate. An exposure questionnaire, coupled with the characteristics of the MPs detected in the male reproductive system, revealed that high urbanization, home-cooked meals, and using scrub cleansers were important sources of MP exposure in men. These findings may provide novel insights into alleviating the exposure of men to MPs.


Asunto(s)
Microplásticos , Testículo , Humanos , Masculino , Ratones , Animales , Plásticos , Genitales Masculinos , Vesículas Seminales , Semen
2.
Reprod Biomed Online ; 48(2): 103422, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38030535

RESUMEN

RESEARCH QUESTION: Does severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection during ovarian stimulation affect assisted reproductive technology outcomes? DESIGN: This retrospective cohort study conducted at the Reproductive Medicine Centre of The First Affiliated Hospital of Anhui Medical University aimed to assess the effects of acute SARS-CoV-2 infection during IVF on treatment outcomes and the reproductive system. The study included 151 treatment cycles involving couples with coronavirus disease 2019 (COVID-19) during ovarian stimulation, along with 224 cycles of non-infected couples as a control group. Clinical characteristics and laboratory parameters were analysed, including total gonadotrophin dosage, duration of ovarian stimulation, number of oocytes retrieved, fertilization method, fertilization rate, and number of blastocyst embryos available. Forty-six follicular fluid samples, 38 semen samples and 78 embryo culture medium samples from patients with COVID-19 were tested for SARS-CoV-2 RNA using reverse transcription polymerase chain reaction assay. RESULTS: The treatment and control groups showed similar cycle characteristics, including fertilization method, total gonadotrophin dosage and duration of ovarian stimulation. The mean number of oocytes retrieved per cycle and rate of mature oocytes in intracytoplasmic sperm injection cycles were comparable. No significant difference was observed in the total number of blastocyst embryos available between the groups. Furthermore, no SARS-CoV-2 RNA was detected in any of the samples of patients with COVID-19. CONCLUSIONS: In conclusion, acute SARS-CoV-2 infection during ovarian stimulation does not have a significant impact on IVF treatment outcomes. Additionally, no risk to the reproductive system was observed in patients infected with SARS-CoV-2. Therefore, individuals with asymptomatic or mild COVID-19 can safely continue IVF treatment. Future research is needed to investigate the long-term effects of COVID-19 on fertility and reproductive outcomes.


Asunto(s)
COVID-19 , Fertilización In Vitro , Femenino , Humanos , Masculino , Embarazo , Fertilización In Vitro/métodos , Estudios Retrospectivos , ARN Viral , SARS-CoV-2 , Semen , Inducción de la Ovulación/métodos , Gonadotropinas , Índice de Embarazo
3.
JMIR Public Health Surveill ; 9: e48511, 2023 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-37976132

RESUMEN

BACKGROUND: The COVID-19 pandemic, caused by SARS-CoV-2, has triggered a global public health crisis of unprecedented proportions. SARS-CoV-2 vaccination is a highly effective strategy for preventing infections and severe COVID-19 outcomes. Although several studies have concluded that COVID-19 vaccines are unlikely to affect fertility, concerns have arisen regarding adverse events, including the potential impact on fertility; these concerns are plagued by limited and inconsistent evidence. OBJECTIVE: This review aims to provide a recent assessment of the literature on the impact of COVID-19 vaccines on male sperm quality. The possible impact of COVID-19 vaccines on fertility potential was also examined to draw a clearer picture and to evaluate the effects of COVID-19 on male reproductive health. METHODS: PubMed, Scopus, Web of Science, Embase, and Cochrane databases were searched from their inception to October 2023. Eligible studies included articles reporting SARS-CoV-2 vaccination and human semen quality and fertility, as well as the impact of vaccination on assisted reproductive technology treatment outcomes. The quality of cohort studies was assessed using the Newcastle-Ottawa Scale, and the quality of cross-sectional studies was assessed using the quality evaluation criteria recommended by the Agency for Healthcare Research and Quality. The systematic review followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. RESULTS: The initial literature search yielded 4691 records by searching 5 peer-reviewed databases (PubMed, Scopus, Web of Science, Embase, and Cochrane). Finally, 24 relevant studies were selected for our study. There were evident research inequalities at the regional level, with the United States and Western European countries contributing 38% (9/24) of the studies, Middle Eastern countries contributing 38% (9/24), China accounting for 21% (5/24), and Africa and South America accounting for none. Nonetheless, the overall quality of the included studies was generally good. Our results demonstrated that serious side effects of the COVID-19 vaccine are extremely rare, and men experience few problems with sperm parameters or reproductive potential after vaccination. CONCLUSIONS: On the basis of the studies published so far, the COVID-19 vaccine is safe for male reproductive health. Obviously, vaccination is a wise option rather than experience serious adverse symptoms of viral infections. These instances of evidence may help reduce vaccine hesitancy and increase vaccination coverage, particularly among reproductive-age couples. As new controlled trials and prospective cohort studies with larger sample sizes emerge, the possibility of a negative effect of the COVID-19 vaccine on sperm quality must be further clarified.


Asunto(s)
COVID-19 , Masculino , Humanos , COVID-19/prevención & control , SARS-CoV-2 , Vacunas contra la COVID-19/efectos adversos , Pandemias , Análisis de Semen , Estudios Transversales , Estudios Prospectivos , Semen , Espermatozoides
4.
iScience ; 26(11): 108158, 2023 Nov 17.
Artículo en Inglés | MEDLINE | ID: mdl-37915596

RESUMEN

Endometriosis (EMS) is a prevalent disease and the etiologies has not uniform. Microbiota is associated with human diseases. To delve into the relationship between EMS and microbiota, Ectopic (EM) and eutopic (EU) endometrial tissues, pharyngeal swabs, and stools were collected from EMS patients. The microbiota composition of EM and EU partially overlapped, with similar taxon numbers and diversity, but the richness levels were significantly different. A comparison of intestinal microbes in healthy individuals (FN) and EMS patients (FE) revealed that the richness of Enterococcus, Pseudomonas, Haemophilus, and Neisseria was enhanced in FE. In addition, Enterococcus-induced mice (EFA) presented with a higher degree of lesion infiltration and a wider distribution of lesions. Proteomic analysis revealed the expression of plant homeodomain finger 11 (PHF11) was notably downregulated in EFA. And the downregulated expression of PHF11 was accompanied by the upregulated expression of interleukin 8 (IL-8). Our findings suggest a potential regulatory mechanism for PHF11 in EMS development.

5.
Ann Med ; 55(2): 2261964, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37756386

RESUMEN

Although vaccination with the Coronavirus disease 2019 vaccine is important and effective in the prevention of SARS-CoV-2 infection, the public expressed concerns regarding the adverse effects of vaccine on fertility. Some reviews have focused on it, they have been unable to collect sufficient research data because of the earlier publication period. As relevant evidence has gradually increased, we reviewed these studies from the perspectives of males, females with or without pregnancy, and different vaccine types. The results suggest that although males may experience fluctuations in semen parameters within their physiological ranges after receiving the vaccine, it has not yet reached a level of influence on the partner's pregnancy probability. As to female without pregnancy, it is believed that vaccination will not affect fertility; however, more research is needed to explore the short-term impact. Vaccination during any trimester is considered safe in pregnant women.


Asunto(s)
Vacunas contra la COVID-19 , COVID-19 , Fertilidad , Femenino , Humanos , Masculino , Embarazo , COVID-19/prevención & control , Vacunas contra la COVID-19/efectos adversos , Pandemias , SARS-CoV-2 , Vacunación/efectos adversos
6.
J Assist Reprod Genet ; 40(10): 2485-2492, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37574497

RESUMEN

PURPOSE: To identify new mutations in DNAH17 that cause male infertility and analyze intracytoplasmic sperm injection (ICSI) outcomes in patients with DNAH17 mutations. METHODS: A total of five cases of new DNAH17 mutations exhibiting the multiple morphological abnormalities of the sperm flagella (MMAF) phenotype were identified through semen analysis and genetic testing. They were recruited at our reproductive medicine center from September 2018 to July 2022. Information on DNAH17 genetic mutations and ICSI outcomes was systematically explored following a literature review. RESULTS: Three novel compound mutations in DNAH17 were identified in patients with male infertility caused by MMAF. This study and previous publications included 21 patients with DNAH17 mutations. DNAH17 has been associated with asthenozoospermia and male infertility, but different types of DNAH17 variants appear to be involved in different sperm phenotypes. In 11 couples of infertile patients with DNAH17 mutations, there were 17 ICSI cycles and 13 embryo transplantation cycles. Only three men with DNAH17 variants ultimately achieved clinical pregnancy with their partners through ICSI combined with assisted oocyte activation (AOA). CONCLUSIONS: Loss-of-function mutations in DNAH17 can lead to severe sperm flagellum defects and male infertility. Patients with MMAF-harboring DNAH17 mutations generally have worse pregnancy outcomes following ICSI. ICSI combined with AOA may improve the outcome of assisted reproductive techniques (ARTs) for men with DNAH17 variants.


Asunto(s)
Infertilidad Masculina , Cola del Espermatozoide , Embarazo , Femenino , Humanos , Masculino , Inyecciones de Esperma Intracitoplasmáticas/efectos adversos , Semen , Espermatozoides , Infertilidad Masculina/genética , Mutación/genética , Dineínas Axonemales/genética
7.
Appl Nurs Res ; 69: 151656, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-36635011

RESUMEN

BACKGROUND: Family resilience plays a crucial role in protecting the mental health and family stability of infertile patients. However, information associated with infertile families resilience is scarce. The double ABC-X model provides a roadmap for this, helps organize knowledge, and lays the foundation for knowledge development. AIMS: To describe the current situation of family resilience of infertile women, and to test the predictive theoretical model of family resilience based on infertility stigma, individual resilience, coping style, and posttraumatic growth. DESIGN: A cross-sectional study. METHODS: A convenience sample of 372 infertile women undergoing in vitro fertilization were recruited between April and August 2020. The Chinese-Family Resilience Assessment Scale, Infertility Stigma Scale, Simplified Coping Style Questionnaire, Chinese version of Connor-Davidson Resilience Scale, and Chinese version of Post Traumatic Growth Inventory were used to measure family resilience, infertility stigma, individual resilience, coping style, and posttraumatic growth. Structural equation models were used to analyze the relationship among these variables. RESULTS: The results showed that family resilience was related to infertility stigma, positive coping, and individual resilience. Moreover, the path analysis indicated that positive coping and individual resilience mediated the effects of infertility stigma on family resilience. CONCLUSIONS: A high level of stigma among infertile women should be identified. Interventions for targeting positive coping and individual resilience might ultimately increase their family resilience.


Asunto(s)
Infertilidad Femenina , Resiliencia Psicológica , Femenino , Humanos , Infertilidad Femenina/terapia , Infertilidad Femenina/psicología , Estudios Transversales , Salud de la Familia , Adaptación Psicológica , Fertilización In Vitro , Encuestas y Cuestionarios
8.
JAMA Netw Open ; 6(1): e2250177, 2023 01 03.
Artículo en Inglés | MEDLINE | ID: mdl-36633849

RESUMEN

Importance: Although sexual function is an indispensable part of overall human health, both male and female sexual dysfunction have been poorly addressed in China. Objective: To explore the self-reported knowledge, attitudes, and practice patterns related to sexual dysfunction among urologists and andrologists in China. Design, Setting, and Participants: This survey study enrolled urologists and andrologists from various regions in China. Urologists and andrologists from 100 selected medical centers were invited to participate in the survey. Responses from eligible urologists and andrologists were analyzed from July 20 to 30, 2022. Main Outcomes and Measures: The primary outcomes were the respondents' basic characteristics and knowledge, attitudes, and practice patterns related to sexual dysfunction for both male and female patients. Results: Among 1687 urologists and andrologists (749 [98.7%] male; 375 participants [49.4%] aged 36-50 years) invited to participate, 759 were eligible, with 395 participants (52.0%) determined to have passing knowledge on diagnosis and treatment for male and female sexual dysfunction (defined as a score of 6 or more points) and 523 participants (68.9%) responding with positive attitudes, including interested in providing sex counseling and managing sexual issues for male and female patients. Moreover, of 395 individuals with passing knowledge, 289 participants (73.2%) were interested in providing sex counseling or sexual function care to patients; 336 participants (85.1%) thought they should routinely screen the spouse for sexual dysfunction when the partner was diagnosed with a sexual dysfunction. Among individuals with passing knowledge, 232 participants (58.7%) reported knowledge on the guidelines for diagnosis and treatment of premature ejaculation and 162 participants (41.0%) reported knowledge on the guidelines for the diagnosis and treatment of erectile dysfunction, which were significantly higher than rates among 364 participants with limited knowledge (premature ejaculation: 140 participants [38.5%]; erectile dysfunction: 78 participants [21.4%]). Only a few urologists and andrologists could manage female sexual dysfunction following guidelines, although the proportions were higher in the group with passing knowledge (38 participants [9.6%]) compared with those with less knowledge (5 participants [1.4%]). Additionally, most participants felt confident to manage male sexual issues (569 participants [75.0%] reporting often or almost always), while most of them were not so confident on female sexual issues (274 participants [36.1%] reporting often or almost always), mainly due to lacking knowledge in this field (518 participants [68.2%]). Conclusions and Relevance: The findings of this survey study suggest that urologists and andrologists in China lacked knowledge on sexual dysfunction, which in turn was associated with their attitudes and clinical practice patterns, especially for female sexual dysfunction. More training on sexual dysfunction should be undertaken to improve this situation.


Asunto(s)
Disfunción Eréctil , Eyaculación Prematura , Humanos , Masculino , Femenino , Urólogos , Conocimientos, Actitudes y Práctica en Salud , Encuestas y Cuestionarios
9.
Reprod Biol Endocrinol ; 20(1): 155, 2022 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-36357889

RESUMEN

BACKGROUND: Altered sperm DNA methylation patterns of imprinted genes as well as certain spermatogenesis-related genes has been proposed as a possible mechanism of male subfertility. Some reports suggest that there is an elevated risk of congenital diseases, associated with imprinted genes, in children conceived via intra-cytoplasmic sperm injection, due to the involvement of spermatozoa with aberrant imprinted genes obtained from infertile men. METHODS: In this study, the DNA methylation status of the promoter regions of six imprinted genes, namely potassium voltage-gated channel subfamily Q member 1 (KCNQ1), maternally expressed gene 3 (MEG3), insulin-like growth factor 2 (IGF-2), KCNQ1 overlapping transcript 1 (KCNQ1OT1), mesoderm specific transcript (MEST), and paternally expressed gene 3 (PEG3), were detected by a next generation sequencing-based multiple methylation-specific polymerase chain reaction analysis of sperm samples obtained from 166 men who sought fertility evaluation in our Reproductive Medicine Center. Thereafter, the semen samples were classified into subgroups according to sperm motility and DNA integrity status. RESULTS: As compared to the normozoospermic group, the samples of the asthenospermic group exhibited significant hypermethylation in two CpG sites of IGF-2 and significant hypomethylation in one CpG site of KCNQ1 as well as three CpG sites of MEST (P < 0.05). However, we did not observe any significant differences in the overall methylation levels of these six imprinted genes (P > 0.05). Additionally, we found that 111 of 323 CpG sites were hypomethylated in the group with DNA fragmentation index (DFI) ≥ 30% as compared to the group with DFI < 30% (P < 0.05). In this case, there were significant differences in the overall methylation levels of MEG3, IGF-2, MEST, and PEG3 (P < 0.05), but not in that of KCNQ1OT1 and KCNQ1 (P > 0.05). Hence, aberrant methylation patterns of imprinted genes were more prevalent in males with poor sperm quality, especially in those with severe sperm DNA damage. CONCLUSION: In conclusion, abnormal DNA methylation of some CpG sites of imprinted genes are associated with poor sperm quality, including asthenospermia and severe sperm DNA impairment.


Asunto(s)
Factor II del Crecimiento Similar a la Insulina , Semen , Niño , Masculino , Humanos , Factor II del Crecimiento Similar a la Insulina/genética , Semen/metabolismo , Impresión Genómica , Canal de Potasio KCNQ1/genética , Canal de Potasio KCNQ1/metabolismo , Motilidad Espermática/genética , Espermatozoides/metabolismo , Metilación de ADN/genética , ADN/genética
10.
Reprod Biol Endocrinol ; 20(1): 71, 2022 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-35459181

RESUMEN

BACKGROUND: Singleton pregnancy is encouraged to reduce pregnancy complications. In addition to single embryo transfer (SET), selective and spontaneous fetal reduction (SEFR and SPFR) can also achieve singleton pregnancies. After SEFR or SPFR, an inanimate fetus remains in the uterus. It is unclear whether the inanimate fetus would adversely affect another fetus or the mother. Previous studies have focused on the differences between pre- and post-reduction. However, studies focusing on the influence of SEFR and SPFR on the remaining fetal development and maintenance of pregnancy are rare. METHODS: Materials from 5922 patients whose embryo transfer dates ranged from March 2011 to January 2021 were collected. Both the SEFR group (n = 390) and SPFR group (n = 865) had double embryos transferred (DET) and got twin pregnancies, but subsequent selective or spontaneous fetal reduction occurred. The SET group (n = 4667) had only one embryo transferred. All were singleton pregnancies on the 65th day after embryo transfer. Clinical outcomes, including pregnancy outcomes, pregnancy complications, and newborn outcomes, were compared among the three groups. RESULTS: After adjusting for age, infertility duration, types of infertility, states of embryos, body mass index, and factors affecting SET or DET decisions, multivariate regression analysis revealed that SEFR increased the risk of miscarriage (OR 2.368, 95% CI 1.423-3.939) and preterm birth (OR 1.515, 95% CI 1.114-2.060), and reduced the gestational age (ßeta -0.342, 95% CI -0.544- -0.140). SPFR increased the risk of gestational diabetes mellitus (GDM) (OR 1.657, 95% CI 1.215-2.261), preterm premature rupture of membranes (PPROM) (OR 1.649, 95% CI 1.057-2.574), and abnormal amniotic fluid volume (OR 1.687, 95% CI 1.075-2.648). Both SEFR and SPFR were associated with reduced live birth rate (OR 0.522, 95% CI 0.330-0.825; OR 0.671, 95% CI 0.459-0.981), newborn birth weight (ßeta -177.412, 95% CI -235.115--119.709; ßeta -42.165, 95% CI -83.104--1.226) as well as an increased risk of low-birth-weight newborns (OR 2.222, 95% CI 1.490-3.313; OR 1.510, 95% CI 1.092-2.087). CONCLUSIONS: DET with subsequent fetal reduction was related to poor clinical outcomes. We recommend that DET with subsequent fetal reduction should only be considered as a rescue method for multiple pregnancy patients with potential complications, and SET is more advisable.


Asunto(s)
Infertilidad , Complicaciones del Embarazo , Nacimiento Prematuro , Femenino , Humanos , Recién Nacido , Embarazo , Complicaciones del Embarazo/etiología , Resultado del Embarazo/epidemiología , Reducción de Embarazo Multifetal/efectos adversos , Primer Trimestre del Embarazo , Embarazo Gemelar , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Estudios Retrospectivos
11.
BMC Pregnancy Childbirth ; 22(1): 280, 2022 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-35382798

RESUMEN

BACKGROUND: It is generally beneficial for triplet gestation or high-order multiple pregnancies to operate multifetal pregnancy reduction (MFPR) after assisted reproductive techniques. However, data on pregnancy outcomes is lacking regarding dichorionic triamniotic (DCTA) and trichorionic triplets (TCTA) pregnancy. METHOD: This research analyzes the difference between 128 DCTA and 179 TCTA pregnancies with or without MFPR after in vitro fertilization/intracytoplasmic sperm injection cycles between January 2015 and June 2020. The subdivided subgroups of the two groups are reduction to singleton, reduction to dichorionic twins, and expectant management groups. We also compare the pregnancy and obstetric outcomes between 2104 dichorionic twins and 122 monochorionic twins. RESULT: The research subgroups were DCTA to monochorionic singleton pregnancies (n = 76), DCTA to dichorionic twin pregnancies (n = 18), DCTA-expectant management (n = 34), TCTA to monochorionic singleton pregnancies (n = 31), TCTA to dichorionic twin pregnancies (n = 130), and TCTA-expectant management (n = 18). In DCTA-expectant management group, the complete miscarriage rate is dramatically higher, and the survival rate and the rate of take-home babies are lower. However, there was no difference between the rates of complete miscarriages, survival rates, and take-home babies in TCTA-expectant management group. But the complete miscarriage rate of DCTA-expectant management was obviously higher than that of TCTA-expectant management group (29.41 vs. 5.56%, p = 0.044). For obstetric outcomes, MFPR to singleton group had higher gestational week and average birth weight, but lower premature delivery, gestational hypertension rates and low birth weight in both DCTA and TCTA pregnancy groups (all p < 0.05). DCTA to monochorionic singleton had the lowest incidence of gestational diabetes, whereas The subdivided subgroups of TCTA had no significant difference in the incidence of gestational diabetes. Monochorionic twins have higher rates of complete, early, and late miscarriage, premature delivery, and late premature delivery, and lower survival rate (p < 0.05). CONCLUSION: MFPR could improve gestational week and average birth weight, reducing premature delivery, LBW, and gestational hypertension rates in DCTA and TCTA pregnancies. Monochorionic twins have worse pregnancy and obstetric outcomes. MFPR to singleton is preferable recommended in the pregnancy and obstetric management of complex triplets with monochorionic pair.


Asunto(s)
Aborto Espontáneo , Embarazo Triple , Aborto Espontáneo/epidemiología , Aborto Espontáneo/etiología , Femenino , Humanos , Embarazo , Resultado del Embarazo/epidemiología , Reducción de Embarazo Multifetal/métodos , Embarazo Gemelar , Estudios Retrospectivos
14.
Reprod Biol Endocrinol ; 20(1): 41, 2022 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-35232447

RESUMEN

BACKGROUND: Multiple morphological abnormalities of the sperm flagella (MMAF) is a subtype of severe asthenoteratozoospermia with poorly understood genetic etiology. SPAG6 is a core axonemal component that plays a critical role in the formation of cilia and sperm flagella. Previous studies have reported that mutations in SPAG6 cause primary ciliary dyskinesia (PCD), but the association between SPAG6 gene variants and the MMAF phenotype has not yet been described. METHODS: We performed whole-exome sequencing (WES) in two unrelated Han Chinese men with MMAF. Sanger sequencing was used to validate the candidate variants. Routine semen analysis was carried out according to the WHO guidelines (5th Edition). Sperm morphology was assessed using modified Papanicolaou staining. Scanning and transmission electron microscopy (S/TEM) was performed to observe the ultrastructural defects of the sperm flagella. Western blot analysis and immunofluorescence (IF) of spermatozoa were performed to examine the expression of SPAG6 protein. Assisted fertilization with intracytoplasmic sperm injection (ICSI) was applied. RESULTS: Two homozygous SPAG6 variants were identified by WES and Sanger validation in two patients with MMAF phenotype (F1 II-1: c.308C > A, p. A103D; F2 II-1: c. 585delA, p. K196Sfs*6). Semen analysis showed progressive rates of less than 1%, and most of the spermatozoa presented MMAF by Papanicolaou staining. TEM revealed that the overall axonemal ultrastructure was disrupted and primarily presented an abnormal "9 + 0" configuration. No other PCD-related symptoms were found on physical examination and medical consultations, as well as lung CT screening. The level of SPAG6 protein was significantly decreased in the spermatozoa, and IF analysis revealed that SPAG6 staining was extremely weak and discontinuous in the sperm flagella of the two patients. Notably, F1 II-1 and his wife conceived successfully after undergoing ICSI. CONCLUSIONS: Our research provides new evidence for a potential correlation between SPAG6 variants and the MMAF phenotype.


Asunto(s)
Astenozoospermia/genética , Proteínas de Microtúbulos/genética , Teratozoospermia/genética , Adulto , Astenozoospermia/complicaciones , Astenozoospermia/patología , China , Consanguinidad , Análisis Mutacional de ADN/métodos , Homocigoto , Humanos , Infertilidad Masculina/etiología , Infertilidad Masculina/genética , Masculino , Mutación , Linaje , Fenotipo , Cola del Espermatozoide/patología , Cola del Espermatozoide/ultraestructura , Espermatozoides/anomalías , Espermatozoides/ultraestructura , Teratozoospermia/complicaciones , Teratozoospermia/patología , Secuenciación del Exoma
15.
Cell Host Microbe ; 30(1): 5-7, 2022 01 12.
Artículo en Inglés | MEDLINE | ID: mdl-35026135

RESUMEN

Numerous studies have shown the possible contributions of the gut microbiome to the pathogenesis of autism spectrum disorder (ASD). However, recently in Cell, Yap et al. found that autism-related dietary preferences may mediate the ASD-microbiome associations, while the direct associations between ASD and gut microbiota are negligible.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Microbioma Gastrointestinal , Microbiota , Trastorno del Espectro Autista/etiología , Trastorno Autístico/etiología , Dieta , Humanos
16.
Reprod Biol Endocrinol ; 19(1): 129, 2021 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-34429122

RESUMEN

BACKGROUND: Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from these patients despite using the microsurgical testicular sperm extraction (microTESE) method. Therefore, we conducted this genetic study to identify the potential genetic factors responsible for NOA and investigate the sperm retrieval rate of microTESE for genetically deficient NOA patients. METHODS: Semen analyses, sex hormone testing, and testicular biopsy were performed to categorize the patients with NOA. The chromosome karyotypes and Y chromosome microdeletion analyses were used to exclude general genetic factors. Whole exome sequencing and Sanger sequencing were performed to identify potential genetic variants in 51 patients with NOA. Hematoxylin and eosin staining (H&E) and anti-phosphorylated H2AX were used to assess the histopathology of spermatogenesis. Quantitative real time-polymerase chain reaction, western blotting, and immunofluorescence were performed to verify the effects of gene variation on expression. RESULTS: We performed whole exome sequencing in 51 NOA patients and identified homozygous helicase for meiosis 1(HFM1) variants (NM_001017975: c.3490C > T: p.Q1164X; c.3470G > A: p.C1157Y) in two patients (3.9%, 2/51). Histopathology of the testis showed that spermatogenesis was completely blocked at metaphase in these two patients carrying the HFM1 homozygous variants. In comparison with unaffected controls, we found a significant reduction in the levels of HFM1 mRNA and protein expression in the testicular tissues from these two patients. The patients were also subjected to microTESE treatment, but the sperms could not be retrieved. CONCLUSIONS: This study identified novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, and microTESE did not aid in retrieving sperms from these patients.


Asunto(s)
Azoospermia/genética , ADN Helicasas/genética , Espermatogénesis/genética , Testículo/patología , Adulto , ADN Helicasas/metabolismo , Homocigoto , Humanos , Masculino , Metafase , Microcirugia , Recuperación de la Esperma , Espermatozoides/patología , Testículo/metabolismo , Testículo/cirugía
18.
J Assist Reprod Genet ; 38(8): 2041-2048, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33786731

RESUMEN

PURPOSE: To evaluate the association between the DNA methylation of specific genes and sperm DNA integrity status in human sperm samples. METHODS: A total of 166 semen samples were evaluated (86 controls and 80 cases with impaired sperm DNA integrity). We detected the methylation status of 257 CpG sites among two imprinted genes (H19 and SNRPN) and four non-imprinted genes related to male infertility (MTHFR, GSTM1, DAZL, and CREM) by using a targeted next-generation sequencing method. RESULTS: Differential methylation was found in 43 CpG sites of the promoters of the six candidate genes. H19, SNRPN, MTHFR, DAZL, GSTM1, and CREM contained 22, 12, 1, 4, 0, and 4 differentially methylated CpG sites (P<0.05), respectively. The imprinting genes were associated with relatively higher rates of differentially methylated CpG sites (28.21% in H19 and 41.38% in SNRPN) than the non-imprinting genes. One CpG site in H19 remained significant after performing strict Bonferroni correction. CONCLUSION: In this study, we found that different site-specific DNA methylation signatures were correlated with sperm DNA integrity status. Further studies are needed to investigate the specific mechanisms leading to the epigenetic modifications.


Asunto(s)
Metilación de ADN , ADN/química , Epigénesis Genética , Impresión Genómica , Infertilidad Masculina/patología , ARN Largo no Codificante/genética , Proteínas Nucleares snRNP/genética , Adulto , Estudios de Casos y Controles , Modulador del Elemento de Respuesta al AMP Cíclico/genética , ADN/genética , Glutatión Transferasa/genética , Humanos , Infertilidad Masculina/genética , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Proteínas de Unión al ARN/genética , Espermatozoides/metabolismo
19.
J Med Internet Res ; 23(2): e25342, 2021 02 25.
Artículo en Inglés | MEDLINE | ID: mdl-33629964

RESUMEN

BACKGROUND: The gut microbiome is receiving considerable attention as a potentially modifiable risk factor and therapeutic target for numerous mental and neurological diseases. OBJECTIVE: This study aimed to explore and assess the difference in the composition of gut microbes and fecal metabolites between women with hypoactive sexual desire disorder (HSDD) and healthy controls. METHODS: We employed an online recruitment method to enroll "hard-to-reach" HSDD populations. After a stringent diagnostic and exclusion process based on DSM-IV criteria, fecal samples collected from 24 women with HSDD and 22 age-matched, healthy controls underwent microbiome analysis using 16S ribosomal RNA gene sequencing and metabolome analysis using untargeted liquid chromatography-mass spectrometry. RESULTS: We found a decreased abundance of Ruminococcaceae and increased abundance of Bifidobacterium and Lactobacillus among women with HSDD. Fecal samples from women with HSDD showed significantly altered metabolic signatures compared with healthy controls. The abundance of Bifidobacterium, Lactobacillus, and several fecal metabolites correlated negatively with the sexual desire score, while the number of Ruminococcaceae correlated positively with the sexual desire score in all subjects. CONCLUSIONS: Our analysis of fecal samples from women with HSDD and healthy controls identified significantly different gut microbes and metabolic signatures. These preliminary findings could be useful for developing strategies to adjust the level of human sexual desire by modifying gut microbiota. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR1800020321; http://www.chictr.org.cn/showproj.aspx?proj=34267.


Asunto(s)
Microbioma Gastrointestinal/fisiología , Disfunciones Sexuales Psicológicas/etiología , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Proyectos de Investigación , Disfunciones Sexuales Psicológicas/microbiología
20.
Syst Biol Reprod Med ; 66(6): 343-346, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32938244

RESUMEN

The World Health Organization has declared the outbreak of the coronavirus disease COVID-19, caused by SARS-CoV-2, a pandemic. This novel infectious disease has rapidly become a global health threat. Currently, there are limited data on the extent of reproductive system damage caused by COVID-19. We reviewed the potential risks for complications in the reproductive system caused by COVID-19 infection. In addition, based on the latest American Society for Reproductive Medicine (ASRM), and European Society of Human Reproduction and Embryology (ESHRE), recommendations regarding clinical and patient management, we provide a series of suggestions for infection control measures in reproductive medicine departments. With the gradual restoration of reproductive care services, reproductive departments in epidemic areas should actively seek to minimize COVID-19 infection of both healthcare workers and patients.


Asunto(s)
COVID-19/complicaciones , Control de Infecciones , Salud Reproductiva , Enzima Convertidora de Angiotensina 2/metabolismo , Humanos , Medicina Reproductiva/tendencias
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