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1.
Small ; 20(24): e2308956, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38183403

RESUMO

The present study proposes a novel engineering concept for the customization of functionality and construction of superstructure to fabricate 2D monolayered N-doped carbon superstructure electrocatalysts decorated with Co single atoms or Co2P nanoparticles derived from 2D bimetallic ZnCo-ZIF superstructure precursors. The hierarchically porous carbon superstructure maximizes the exposure of accessible active sites, enhances electron/mass transport efficiency, and accelerates reaction kinetics simultaneously. Consequently, the Co single atoms embedded N-doped carbon superstructure (Co-NCS) exhibits remarkable catalytic activity toward oxygen reduction reaction, achieving a half-wave potential of 0.886 V versus RHE. Additionally, the Co2P nanoparticles embedded N-doped carbon superstructure (Co2P-NCS) demonstrates high activity for both oxygen evolution reaction and hydrogen evolution reaction, delivering low overpotentials of 292 mV at 10 mA cm-2 and 193 mV at 10 mA cm-2 respectively. Impressively, when employed in an assembled rechargeable Zn-air battery, the as-prepared 2D carbon superstructure electrocatalysts exhibit exceptional performance with a peak power density of 219 mW cm-2 and a minimal charge/discharge voltage gap of only 1.16 V at 100 mA cm-2. Moreover, the cell voltage required to drive an overall water-splitting electrolyzer at a current density of 10 mA cm-2 is merely 1.69 V using these catalysts as electrodes.

2.
J Assist Reprod Genet ; 38(1): 33-40, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32926298

RESUMO

OBJECTIVE: To study the effect of aging on ovarian circadian rhythm. DESIGN: Human and animal study. SETTING: University hospital and research laboratory. PATIENTS/ANIMALS: Human granulosa cells were obtained by follicular aspiration from women undergoing in vitro fertilization (IVF), and ovarian and liver tissues were obtained from female C57BL/6 mice. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Expression of circadian genes in young and older human granulosa cells and circadian rhythm in ovaries and livers of young and older mice. RESULT(S): All examined circadian clock genes in human granulosa cells showed a downward trend in expression with aging, and their mRNA expression levels were negatively correlated with age (P < 0.05). Older patients (≥ 40 years of age) had significantly reduced serum anti-Müllerian hormone (AMH) levels. Except for Rev-erbα, all other examined circadian clock genes were positively correlated with the level of AMH (P < 0.05). The circadian rhythm in the ovaries of older mice (8 months) was changed significantly relative to that in ovaries of young mice (12 weeks), although the circadian rhythm in the livers of older mice was basically consistent with that of young mice. CONCLUSION(S): Lower ovarian reserve in older women is partially due to ovarian circadian dysrhythmia as a result of aging.


Assuntos
Envelhecimento/genética , Ritmo Circadiano/genética , Fígado/metabolismo , Ovário/metabolismo , Envelhecimento/patologia , Animais , Hormônio Antimülleriano/sangue , Feminino , Fertilização in vitro , Células da Granulosa/metabolismo , Humanos , Camundongos , Reserva Ovariana/genética , Ovário/crescimento & desenvolvimento , Ovário/patologia , RNA Mensageiro/genética
3.
J Clin Pharm Ther ; 45(5): 1039-1049, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32255203

RESUMO

WHAT IS KNOWN AND OBJECTIVE: The comparative efficacy of ancillary drugs on sevoflurane-related emergence agitation (EA) in paediatric anaesthesia for adenotonsillectomy remains unclear. The purpose of this Bayesian network meta-analysis was to investigate the efficacy of ancillary drugs on sevoflurane-related EA in paediatric anaesthesia for adenotonsillectomy. METHODS: MEDLINE, Embase, the Cochrane Library and Web of Science databases were electronically searched to identify randomized controlled trials (RCTs) of different ancillary drugs used in adenotonsillectomy from inception to April 2019. Two reviewers independently screened the literature, extracted data and assessed the risk of bias in included studies. Subsequently, a network meta-analysis was performed using the R software and RevMan 5.3 software. RESULTS AND DISCUSSION: We included 25 RCTs, involving 2151 participants. The proportion of patients with sevoflurane-related EA was significantly lower in the dexmedetomidine, ketamine, propofol, fentanyl, midazolam, sufentanil, remifentanil and clonidine groups than in the placebo group (P < .05). Fentanyl was superior to sufentanil (P < .05), whereas dexmedetomidine was superior to fentanyl (P < .05). Among ancillary drugs, dexmedetomidine (90.04%) showed the highest possibility of reducing the risk of EA, followed by fentanyl (87.45%), remifentanil (63.85%), ketamine (52.07%), midazolam (51.27%), clonidine (49.94%), propofol (29.89%), sufentanil (21.38%) and placebo (4.09%). WHAT IS NEW AND CONCLUSION: Evidence suggests that the effects of dexmedetomidine in reducing the risk of sevoflurane-related EA in paediatric anaesthesia for adenotonsillectomy were better than the effects of other drugs. However, large, high-quality RCTs are required to further confirm this.


Assuntos
Delírio do Despertar/tratamento farmacológico , Hipnóticos e Sedativos/administração & dosagem , Sevoflurano/efeitos adversos , Adenoidectomia/métodos , Teorema de Bayes , Criança , Delírio do Despertar/induzido quimicamente , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Sevoflurano/administração & dosagem , Tonsilectomia/métodos
4.
J Mol Cell Cardiol ; 128: 1-10, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30641088

RESUMO

High circulating androgen in women with polycystic ovary syndrome (PCOS) may increase the risk of cardiovascular disease in offspring. The aim of the present study is to investigate whether maternal androgen excess in the rat PCOS model would lead to cardiac hypertrophy in offspring. Maternal testosterone propionate (maternal-TP)-treated adult female offspring displayed cardiac hypertrophy associated with local high cardiac dihydrotestosterone (DHT). The molecular markers of cardiac hypertrophy along with androgen receptor (AR) and PKCδ, were increased in the Maternal-TP group. Treatment of primary neonatal rat ventricular cardiomyocytes (NRCMs) and H9c2 cells with DHT significantly increased cell size and upregulated PKCδ expression, which could be attenuated by AR antagonist. Treatment with phorbol 12-myristate 13-acetate (PMA), a PKC activator, significantly increased cell size and upregulated myh7 level. Rottlerin, that may inhibit PKCδ, significantly reduced the hypertrophic effect of DHT and PMA on NRCMs and H9c2 cells. Chromatin immunoprecipitation revealed that AR could bind to Pkcδ promoter. Our results indicate that prenatal exposure to testosterone may induce cardiac hypertrophy in adult female rats through enhanced Pkcδ expression in cardiac myocytes.


Assuntos
Cardiomegalia/genética , Síndrome do Ovário Policístico/genética , Proteína Quinase C-delta/genética , Receptores Androgênicos/genética , Acetofenonas/farmacologia , Androgênios/genética , Androgênios/metabolismo , Animais , Animais Recém-Nascidos , Benzopiranos/farmacologia , Cardiomegalia/etiologia , Cardiomegalia/patologia , Di-Hidrotestosterona/farmacologia , Feminino , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Miócitos Cardíacos/metabolismo , Miócitos Cardíacos/patologia , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/patologia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/genética , Efeitos Tardios da Exposição Pré-Natal/patologia , Proteína Quinase C-delta/antagonistas & inibidores , Ratos , Transdução de Sinais/efeitos dos fármacos , Testosterona/farmacologia , Acetato de Tetradecanoilforbol/farmacologia
5.
BMC Med ; 16(1): 96, 2018 06 19.
Artigo em Inglês | MEDLINE | ID: mdl-29914496

RESUMO

BACKGROUND: Despite limited information on neonatal safety, the transfer of frozen-thawed cleavage-stage embryos with blastomere loss is common in women undergoing in vitro fertilization. We aimed to evaluate the pregnancy outcomes and safety of frozen-thawed cleavage-stage embryos with blastomere loss. METHODS: This prospective, multicenter, cohort study included all frozen-thawed cleavage-stage embryo transfer (FET) cycles between 2002 and 2012. Pregnancy outcomes and subsequent neonatal outcomes were compared between FET cycles with intact embryos and those with blastomere loss. RESULTS: A total of 12,105 FET cycles were included in the analysis (2259 cycles in the blastomere loss group and 9846 cycles in the intact embryo group). The blastomere loss group showed significantly poorer outcomes with respect to implantation, pregnancy, and live birth rates than the intact embryo group. However, following embryo implantation, the two groups were similar with respect to live birth rates per clinical pregnancy. Among multiple pregnancies (4229 neonates), neonates from the blastomere loss group were at an increased risk of being small for gestational age (aOR = 1.50, 95% CI 1.00-2.25) compared to those from the intact group. A similar trend was observed among singletons (aOR = 1.84, 95% CI 0.99-3.37). No associations were found between blastomere loss and the subsequent occurrence of congenital anomalies or neonatal mortality. However, neonates from the blastomere loss group were at an increased risk of transient tachypnea of the newborn (aOR = 5.21, 95% CI 2.42-11.22). CONCLUSIONS: The transfer of embryos with blastomere loss is associated with reduced conception rates. Once the damaged embryos have implanted, pregnancies appear to have the same probability of progressing to live birth but with an increased risk of small for gestational age neonates and transient tachypnea of the newborn. STUDY REGISTRATION: This study was retrospectively registered at Chinese Clinical Trial Registry. Registration number: ChiCTR-OOC-16007753 . Registration date: 13 January 2016.


Assuntos
Blastômeros/metabolismo , Implantação do Embrião/fisiologia , Transferência Embrionária/métodos , Fertilização in vitro/métodos , Adulto , Blastômeros/citologia , Estudos de Coortes , Feminino , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Estudos Prospectivos
6.
Sci Total Environ ; 912: 169401, 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-38114032

RESUMO

Plant size is a crucial functional trait with substantial implications in agronomy and forestry. Understanding the factors influencing plant size is essential for ecosystem management and restoration efforts. Various environmental factors and plant density play significant roles in plant size. However, how plant size responds to mean annual precipitation (MAP), mean annual temperature (MAT), and density in the arid areas remains incomplete. To address this knowledge gap, we conducted comprehensive vegetation surveys in the Gobi Desert in northwestern China with a MAP below 250 mm. We also collected climate data to disentangle the respective influences of climate and density on the community-weighted plant height, crown length, and crown width. Our observations revealed that the community-weighted mean plant height, crown length, and width demonstrated a positive association with MAT but negative relationships with both MAP and density. These patterns can be attributed to the predominance of shrubs over herbs in arid regions, as shrubs tend to be larger in size. The proportion of shrubs increases with MAT, while it decreases with MAP and density, resulting in higher plant height and larger crown dimensions. Although both MAP and MAT affect plant size in the Gobi Desert, our findings highlight the stronger role of plant density in regulating plant size, indicating that the surrounding plant community and competition among individuals are crucial drivers of plant size patterns. Our findings provide valuable guidance for nature-based solutions for vegetation restoration and ecosystem management, highlighting the importance of considering plant density as a key factor when designing and implementing restoration strategies in arid areas.


Assuntos
Ecossistema , Traqueófitas , Humanos , Clima Desértico , Plantas , China
7.
Sci Rep ; 13(1): 21634, 2023 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-38062047

RESUMO

This study identifies fungi associated with Euwallacea fornicatus and determines whether these fungal species play the role of primary symbiont. E. fornicatus adults that emerged from the branches of infested trees in Okinawa main island, Japan, were collected and used to isolate fungi. Fusarium kuroshium and Penicillium citrinum were the most dominant fungal associates of females and males, respectively. F. kuroshium was much more frequently isolated from the head, including mycangia (fungus-carrying organs), of females than any other body parts. We inoculated healthy mango saplings with F. kuroshium or F. decemcellulare, both of which were symbionts of E. fornicatus females infesting mango trees. F. kuroshium decreased leaf stomatal conductance and rate of xylem sap-conduction area and increased length and area of xylem discoloration of the saplings, thereby weakening and killing some. These results suggest that F. kuroshium, a mycangial fungus of E. fornicatus, inhibits water flow in mango trees. This study is the first to report that F. kuroshium causes wilt disease in mango trees and that it is a primary fungal symbiont of E. fornicatus.


Assuntos
Besouros , Fusarium , Mangifera , Gorgulhos , Animais , Feminino , Masculino , Gorgulhos/microbiologia , Besouros/microbiologia , Árvores , Ambrosia , Japão
8.
Front Endocrinol (Lausanne) ; 14: 1130536, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37152951

RESUMO

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary kidney disorder mostly caused by mutations in PKD1 or PKD2 genes. Here, we report thirteen ADPKD males with infertility and investigated the sperm morphological defects associated with PC1 disruption. Methods: Targeted next-generation sequencing was performed to detect PKD1 variants in patients. Sperm morphology was observed by immunostaining and transmission electron microscopy, and the sperm motility was assessed using the computer-assisted sperm analysis system. The Hippo signaling pathway was analyzed with by quantitative reverse transcription polymerase chain reaction (qPCR) and western blotting in vitro. Results: The ADPKD patients were infertile and their sperm tails showed morphological abnormalities, including coiled flagella, absent central microtubules, and irregular peripheral doublets. In addition, the length of sperm flagella was shorter in patients than in controls of in in. In vitro, ciliogenesis was impaired in Pkd1-depleted mouse kidney tubule cells. The absence of PC1 resulted in a reduction of MST1 and LATS1, leading to nuclear accumulation of YAP/TAZ and consequently increased transcription of Aurka. which might promote HDAC6-mediated ciliary disassembly. Conclusion: Our results suggest the dysregulated Hippo signaling significantly contributes to ciliary abnormalities in and may be associated with flagellar defects in spermatozoa from ADPKD patients.


Assuntos
Via de Sinalização Hippo , Rim Policístico Autossômico Dominante , Canais de Cátion TRPP , Animais , Humanos , Masculino , Camundongos , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/genética , Sêmen , Motilidade dos Espermatozoides , Espermatozoides/patologia , Canais de Cátion TRPP/genética
9.
Microorganisms ; 10(10)2022 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-36296188

RESUMO

The ambrosia beetle, Euwallacea interjectus, is a wood-boring pest and a vector of Ceratocystis ficicola, a pathogenic fungus causing fig (Ficus carica) wilt disease (FWD) in Japan. The ambrosia fungi, Fusarium kuroshium and Neocosmospora metavorans, have been frequently isolated from heads (including mycangia) of wild and reared adult female E. interjectus, respectively. However, the exact mechanisms driving FWD as well as the interactions between F. kuroshium and C. ficicola in fig orchard remain unclear. To verify the role of the mycangial fungi in the FWD progression, fig saplings were subjected to inoculation treatments (T1, F. kuroshium; T2, N. metavorans, reference positive control; T3, C. ficicola; T4, F. kuroshium + C. ficicola, realistic on-site combination). T3 and T4 saplings began wilting approximately 12 days after inoculation, leading to eventual death. Median duration from inoculation to death of the T4 saplings was approximately four days significantly faster than that of the T3 saplings. Xylem sap-conduction test indicated that dysfunction and necrosis area were considerably wider in the T4 saplings than in T3 saplings. These results demonstrate that the synergistic action of F. kuroshium and C. ficicola contributed to accelerated wilting in the saplings. Based on these discoveries, we proposed a model for system changes in the symbiosis between E. interjectus and its associated fungi in FWD in Japan.

10.
Front Microbiol ; 12: 725210, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34650529

RESUMO

Ficus carica plantations in Japan were first reported to be infested by an ambrosia beetle species, identified as Euwallacea interjectus, in 1996. The purpose of this study was to determine the symbiotic fungi of female adults of E. interjectus emerging from F. carica trees infected with fig wilt disease (FWD). Dispersal adults (51 females) of E. interjectus, which were collected from logs of an infested fig tree in Hiroshima Prefecture, Western Japan, were separated into three respective body parts (head, thorax, and abdomen) and used for fungal isolation. Isolated fungi were identified based on the morphological characteristics and DNA sequence data. Over 13 species of associated fungi were detected, of which a specific fungus, Fusarium kuroshium, was dominant in female head (including oral mycangia). The plant-pathogenic fungus of FWD, Ceratocystis ficicola, was not observed within any body parts of E. interjectus. We further discussed the relationship among E. interjectus and its associated fungi in fig tree.

11.
J Clin Med ; 10(17)2021 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-34501345

RESUMO

BACKGROUND: Preimplantation genetic testing for aneuploidies (PGT-A) is widely used in women of advanced maternal age (AMA). However, the effectiveness remains controversial. METHOD: We conducted a comprehensive literature review comparing outcomes of IVF with or without PGT-A in women of AMA in PubMed, Embase, and the Cochrane Central Register of Controlled Trials in January 2021. All included trials met the criteria that constituted a randomized controlled trial for PGT-A involving women of AMA (≥35 years). Reviews, conference abstracts, and observational studies were excluded. The primary outcome was the live birth rate in included random control trials (RCTs). RESULTS: Nine randomized controlled trials met our inclusion criteria. For techniques of genetic analysis, three trials (270 events) performed with comprehensive chromosomal screening showed that the live birth rate was significantly higher in the women randomized to IVF/ICSI with PGT-A (RR = 1.30, 95% CI 1.03-1.65), which was not observed in six trials used with FISH as well as all nine trials. For different stages of embryo biopsy, only the subgroup of blastocyst biopsy showed a higher live birth rate in women with PGT-A (RR = 1.36, 95% CI 1.04-1.79). CONCLUSION: The application of comprehensive chromosome screening showed a beneficial effect of PGT-A in women of AMA compared with FISH. Moreover, blastocyst biopsy seemed to be associated with a better outcome than polar body biopsy and cleavage-stage biopsy.

12.
Front Genet ; 12: 633003, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33633790

RESUMO

BACKGROUND: Alport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80-85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling. METHODS: Prenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase. RESULTS: Prenatal diagnoses in two cases showed one fetus harbored the same pathogenic mutation as the proband and the other was healthy. The couple with an affected fetus and the patient with a family history of Alport syndrome chose to take the preimplantation genetic testing (PGT) procedure. One unaffected embryo was transferred to the uterus, and a singleton pregnancy was achieved, respectively. Two patients presented non-nephrotic range proteinuria (<3 g/24 h) during pregnancy and the three cases all delivered at full-term. However, published Alport cases with chronic kidney disease or proteinuria during pregnancy were came with a high rate (75%) of adverse maternal and fetal outcomes. CONCLUSION: The PGT procedure performed in this study was proven to be practicable and might be expanded to be applied in other monogenic diseases. Moderate or severe renal impairments in Alport syndrome were strongly associated with adverse maternal and fetal outcomes, and baseline proteinuria was a potential predictor for pregnancy outcomes of Alport syndrome as other kidney diseases.

13.
Bioengineered ; 11(1): 510-521, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32303144

RESUMO

Propofol has exhibited potent antitumor activity in pancreatic cancer cells in vitro and in vivo. The study aimed to investigate the anti-tumor mechanisms of propofol on pancreatic cancer PANC-1 cells in vitro. PANC-1 cells were exposure to concentration 20 µg/ml of propofol for 72 h. Long non-coding RNA LOC285194 siRNA LOC285194 siRNA, E-cadherin siRNA and microRNA-34a (miR-34a) inhibitor were used to investigate the effect of propofol on PANC-1 cells. miR-34a and LOC285194 were analyzed by quantitative real-time PCR (qRT-PCR). Pro-apoptotic protein bax, cleaved-caspase-3 and anti-apoptotic protein bcl-2 were analyzed by Western blot. Cell viability and cell apoptosis were detected by MTT and TUNEL staining, respectively. Cell migration was detected by wound-healing assay. The results showed that propofol upregulated miR-34a expression, which, in turn, upregulated LOC285194 expression, resulting in PANC-1 cell apoptosis and growth inhibition. In addition, propofol upregulated miR-34a expression, which, in turn, upregulated E-cadherin expression, resulting in cell migration inhibition. Our research confirmed that propofol-induced cell apoptosis and inhibited cell migration in PANC-1 cells in vitro via promoting miR-34a-dependent LOC285194 and E-cadherin upregulation, respectively.


Assuntos
Caderinas/metabolismo , MicroRNAs/metabolismo , Neoplasias Pancreáticas/metabolismo , Propofol/farmacologia , RNA Longo não Codificante/metabolismo , Apoptose/efeitos dos fármacos , Apoptose/genética , Linhagem Celular Tumoral , Movimento Celular/efeitos dos fármacos , Movimento Celular/genética , Sobrevivência Celular/efeitos dos fármacos , Sobrevivência Celular/genética , Humanos , Marcação In Situ das Extremidades Cortadas , Neoplasias Pancreáticas
14.
Bioengineered ; 11(1): 209-218, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32065044

RESUMO

MicroRNAs have been implicated as critical regulatory molecules in many cerebrovascular diseases. Recent studies demonstrated miR-22 might provide a potential neuroprotective effect. However, the neuroprotective effect of miR-22 in ischemia/reperfusion (I/R) injury has not been thoroughly elucidated. In this study, the PC12 cells were subjected to 4 h oxygen and glucose deprivation (I) and 24 h reoxygenation (R). The PC12 cells were pre-transfected with miR-22 or anti-miR-22 or siRNA-mediated downregulation of p53-upregulated-modulator-of-apoptosis (PUMA)(PUMA siRNA) or their controls at 24 h prior to exposure to I/R. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and Western blot were employed to analyze mRNA and protein expression. PI and Annexin V assays and terminal deoxynucleotidyltransferase-mediated dUTP-biotin nick end labeling (TUNEL) assay were used to quantify the rate of apoptosis. We found that miR-22 expression was significantly downregulated in the PC12 cells subjected to I/R. Loss of function of miR-22 increased PC12 apoptosis after I/R, and overexpression of miR-22 decreases PC12 apoptosis after I/R. PUMA protein was upregulated in the I/R group as compared with the sham group. The increased PUMA protein expression and apoptosis induced by I/R was reversed by transfection with PUMA siRNA. We concluded that I/R enhanced apoptosis and PUMA expression in PC12 cells via downregulation of miR-22. Enhanced miR-22 expression reversed both PUMA expression and apoptosis induced by I/R in PC12 cells. miR-22/PUMA axis has important implications for their clinical applications.


Assuntos
Proteínas Reguladoras de Apoptose/metabolismo , MicroRNAs/metabolismo , Traumatismo por Reperfusão Miocárdica/metabolismo , Traumatismo por Reperfusão/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Animais , Apoptose , Proteínas Reguladoras de Apoptose/genética , Western Blotting , Marcação In Situ das Extremidades Cortadas , MicroRNAs/genética , Traumatismo por Reperfusão Miocárdica/genética , Traumatismo por Reperfusão Miocárdica/patologia , Células PC12 , Ratos , Traumatismo por Reperfusão/genética , Traumatismo por Reperfusão/patologia , Proteína Supressora de Tumor p53/genética
15.
Mol Genet Genomic Med ; 8(3): e1130, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31971667

RESUMO

BACKGROUND: Germline mutations in PTEN are associated with the PTEN hamartoma tumor syndrome (PHTS), an umbrella term used to describe a spectrum of autosomal-dominant disorders characterized by variable phenotypic manifestations associated with cell or tissue overgrowth. We report a boy who developed severe progressive abdominal distention due to a dramatic adipose mass from the age of 7 months and developed recurrent hypoinsulinemic hypoglycemia that led to seizures at the age of 4 years. METHODS: Trio-based whole-genome sequencing was performed by using blood DNA from the child and his parents. The possible pathogenic variants were verified by Sanger sequencing. Functional characterization of the identified variant was completed by western blot. RESULTS: The child inherited a single-nucleotide deletion NM_000314.6:c.849delA (p.Glu284Argfs) in the tumor suppressor gene PTEN from his father. The paternal family members have a history of cancer. It is conceivable that PTEN loss-of-function induced the adipose tumor growth and hypoglycemia, although the proband did not meet the usual diagnosis criteria of Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome that are characterized by germline mutations of PTEN. CONCLUSION: This case underlines the variability of phenotypes associated with PTEN germline mutations and provides useful information for diagnosis and genetic counseling of PTEN-related diseases for pediatric patients.


Assuntos
Neoplasias Abdominais/genética , Hipoglicemia/genética , Neoplasias Lipomatosas/genética , PTEN Fosfo-Hidrolase/genética , Fenótipo , Convulsões/genética , Neoplasias Abdominais/patologia , Pré-Escolar , Humanos , Hipoglicemia/patologia , Mutação com Perda de Função , Masculino , Neoplasias Lipomatosas/patologia , Linhagem , Convulsões/patologia , Síndrome
16.
Sci China Life Sci ; 62(1): 112-118, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29980904

RESUMO

To investigate the effect of basal hormone levels including follicle stimulating hormone (FSH) and estradiol (E2) and age on the pregnancy outcomes in women undergoing in vitro fertilization and embryo transfer (IVF-ET), we designed a retrospective cohort analysis and collected information of patients undergoing IVF between January 2014 and April 2017. We found that young women had much better pregnancy outcomes than older women regardless of the hormone levels. The pregnancy outcomes declined in young women with high basal E2, even though they had normal FSH. Older women with higher FSH had a worse outcome of pregnancy, especially with increased E2 level. The results suggest that a combination of FSH, E2 and age could effectively predict the pregnancy outcome for women undergoing IVF-ET, and we should encourage infertile women with diminished ovarian reserve, especially young infertile women, to try the assisted reproduction as early as possible. After 40-yearold, the cost-benefit ratio should be considered according to the ovarian function.


Assuntos
Estradiol/sangue , Fertilização in vitro/métodos , Hormônio Foliculoestimulante/sangue , Resultado da Gravidez , Adulto , Fatores Etários , Transferência Embrionária/métodos , Feminino , Humanos , Infertilidade Feminina/sangue , Infertilidade Feminina/terapia , Gravidez , Estudos Retrospectivos
17.
Artigo em Inglês | MEDLINE | ID: mdl-28844405

RESUMO

Assisted reproductive technology (ART) is used primarily for infertility treatments to achieve pregnancy and involves procedures such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. Moreover, preimplantation genetic diagnosis (PGD) of ART is used in couples for genetic reasons. In ART treatments, gametes and zygotes are exposed to a series of non-physiological processes and culture media. Although the majority of children born with this treatment are healthy, some concerns remain regarding the safety of this technology. Animal studies and follow-up studies of ART-borne children suggested that ART was associated with an increased incidence of genetic, physical, or developmental abnormalities, although there are also observations that contradict these findings. As IVF, ICSI, frozen-thawed embryo transfer, and PGD manipulate gametes and embryo at a time that is important for reprogramming, they may affect epigenetic stability, leading to gamete/embryo origins of adult diseases. In fact, ART offspring have been reported to have an increased risk of gamete/embryo origins of adult diseases, such as early-onset diabetes, cardiovascular disease, and so on. In this review, we will discuss evidence related to genetic, especially epigenetic, risks of assisted reproduction.


Assuntos
Transferência Embrionária/efeitos adversos , Epigênese Genética , Fertilização in vitro/efeitos adversos , Diagnóstico Pré-Implantação/efeitos adversos , Animais , Criopreservação , Feminino , Humanos , Infertilidade/terapia , Masculino , Gravidez , Técnicas de Reprodução Assistida/efeitos adversos , Técnicas de Reprodução Assistida/estatística & dados numéricos , Fatores de Risco
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