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1.
PLoS Genet ; 19(7): e1010867, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37523410

RESUMO

Many filamentous fungi produce plant-polysaccharide-degrading enzymes (PPDE); however, the regulatory mechanism of this process is poorly understood. A Gal4-like transcription factor, CxrA, is essential for mycelial growth and PPDE production in Penicillium oxalicum. Its N-terminal region, CxrAΔ207-733 is required for the regulatory functions of whole CxrA, and contains a DNA-binding domain (CxrAΔ1-16&Δ59-733) and a methylated arginine (R) 94. Methylation of R94 is mediated by an arginine N-methyltransferase, PRMT2 and appears to induce dimerization of CxrAΔ1-60. Overexpression of prmt2 in P. oxalicum increases PPDE production by 41.4-95.1% during growth on Avicel, compared with the background strain Δku70;hphR+. Another arginine N-methyltransferase, PRMT3, appears to assist entry of CxrA into the nucleus, and interacts with CxrAΔ1-60 in vitro under Avicel induction. Deletion of prmt3 resulted in 67.0-149.7% enhanced PPDE production by P. oxalicum. These findings provide novel insights into the regulatory mechanism of fungal PPDE production.


Assuntos
Penicillium , Proteína-Arginina N-Metiltransferases , Proteína-Arginina N-Metiltransferases/genética , Penicillium/genética , Celulose , Arginina
2.
Aesthetic Plast Surg ; 2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-38995348

RESUMO

BACKGROUND: In Asia, the demand for cosmetic facial treatments has surged due to technological advancements, increased social acceptability, and affordability. Poly-L-lactic acid (PLLA) fillers, known for their biocompatibility and biodegradability, have emerged as a popular choice for facial contouring, yet studies specifically addressing their use in Asian populations are scarce. METHODS: This retrospective study examined 30 Chinese patients who underwent facial contouring with PLLA fillers, focusing on product composition, injection techniques, and safety measures. A comprehensive clinical evaluation was performed, including the Global Aesthetic Improvement Scale (GAIS) and Global Impression of Change Scale (GICS) for effectiveness and patient satisfaction, respectively. RESULTS: No significant difference in GAIS scores was observed between injectors and blinded evaluators over a 12-month period, indicating consistent effectiveness. Patient satisfaction remained high, with GICS scores reflecting positive outcomes. The safety profile was favorable, with no serious adverse events reported. The study highlighted the importance of anatomical knowledge to avoid complications, particularly in areas prone to blindness. CONCLUSIONS: PLLA fillers offer a safe, effective option for facial contour correction in the Asian population, achieving high patient satisfaction and maintaining results over time. The study underscores the need for tailored approaches in cosmetic procedures for Asians, considering their unique facial structures and aesthetic goals. Further research with larger, multicenter cohorts is recommended to validate these findings and explore long-term effects. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

3.
Acta Pharmacol Sin ; 44(4): 841-852, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36253561

RESUMO

Small-cell lung cancer (SCLC) is an aggressive high-grade neuroendocrine carcinoma of the lung associated with early metastasis and an exceptionally poor prognosis. Little progress has been made in developing efficacious targeted therapy for this recalcitrant disease. Herein, we showed that H3.3, encoded by two genes (H3F3A and H3F3B), was prominently overexpressed in SCLC. Darinaparsin (ZIO-101), a derivative of arsenic trioxide, dose- and time-dependently inhibited the viability of SCLC cells in an H3.3-dependent manner. More importantly, ZIO-101 treatment resulted in substantial accumulation of H3.3 and PARP1 besides induction of G2/M cell cycle arrest and apoptosis in SCLC cells. Through integrative analysis of the RNA-seq data from Cancer Cell Line Encyclopedia dataset, JNCI and Genomics of Drug Sensitivity in Cancer 2 datasets, we found that H3F3A expression was negatively correlated with the IC50 values of PARP inhibitors (PARPi). Furthermore, co-targeting H3.3 and PARP1 by ZIO-101 and BMN673/olaparib achieved synergistic growth inhibition against SCLC in vitro and in vivo. In conclusion, it is feasible to target H3.3 by ZIO-101 to potentiate the response rate of PARPi in SCLC patients.


Assuntos
Arsenicais , Neoplasias Pulmonares , Carcinoma de Pequenas Células do Pulmão , Humanos , Inibidores de Poli(ADP-Ribose) Polimerases/farmacologia , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Carcinoma de Pequenas Células do Pulmão/tratamento farmacológico , Carcinoma de Pequenas Células do Pulmão/patologia , Arsenicais/farmacologia , Arsenicais/uso terapêutico , Neoplasias Pulmonares/patologia , Linhagem Celular Tumoral , Ftalazinas/farmacologia
4.
BMC Pregnancy Childbirth ; 23(1): 604, 2023 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-37612626

RESUMO

BACKGROUD: To investigate the effect of Luteinizing hormone (LH) level changes on the outcomes of controlled ovarian hyperstimulation (COH) and embryo transfer (ET) in gonadotropin-releasing hormone antagonist (GnRH-ant) protocol. METHODS: A total of 721 patients undergoing GnRH-ant protocol COH for the first IVF/ICSI cycles were retrospectively analyzed. COH process were divided into 2 stages, before (stage 1) and after (stage 2) the GnRH-ant initiation, and each with 5 groups basing on LH levels: LH decreased more than 50% (groups A1, A2), decreased 25-50% (groups B1, B2), change less than 25% (groups C1, C2), increased 25-50% (groups D1, D2), and increased more than 50% (groups E1, E2). RESULTS: There were no significant differences among groups of stage1 regarding COH and ET outcomes. For stage 2, the more obvious the decrease of LH level, the more the number of oocytes retrieved, mature oocytes, fertilized oocytes, embryos cleavaged and the numbers of embryo available (P < 0.05), but without significant differences regarding ET outcomes. We also found the freeze-all rate in Group A2 was higher (P < 0.001). CONCLUSION: LH level changes before GnRH-ant addition were not related to COH and ET outcomes. LH level changes after the addition of GnRH-ant were related to the outcome of COH, and no significant differences were found relating to ET outcomes.


Assuntos
Hormônio Luteinizante , Oócitos , Humanos , Estudos Retrospectivos , Transferência Embrionária , Antagonistas de Hormônios/uso terapêutico , Hormônio Liberador de Gonadotropina
5.
BMC Pregnancy Childbirth ; 23(1): 641, 2023 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-37674133

RESUMO

BACKGROUND: Preimplantation genetic testing for aneuploidy (PGT-A) was demonstrated to be superior to conventional IVF in reducing the incidence of miscarriage and abnormal offspring after the first embryo transfer (ET). PGT-A requires several embryo trophectoderm cells, but its negative impacts on embryo development and long-term influence on the health conditions of conceived children have always been a concern. As an alternative, noninvasive PGT-A (niPGT-A) approaches using spent blastocyst culture medium (SBCM) achieved comparable accuracy with PGT-A in several pilot studies. The main objective of this study is to determine whether noninvasive embryo viability testing (niEVT) results in better clinical outcomes than conventional IVF after the first embryo transfer. Furthermore, we further investigated whether niEVT results in higher the live birth rate between women with advanced maternal age (AMA, > 35 years old) and young women or among patients for whom different fertilization protocols are adopted. METHODS: This study will be a double-blind, multicenter, randomized controlled trial (RCT) studying patients of different ages (20-43 years) undergoing different fertilization protocols (in vitro fertilization [IVF] or intracytoplasmic sperm injection [ICSI]). We will enroll 1140 patients at eight reproductive medical centers over 24 months. Eligible patients should have at least two good-quality blastocysts (better than grade 4 CB). The primary outcome will be the live birth rate of the first embryo transfer (ET). Secondary outcomes will include the clinical pregnancy rate, ongoing pregnancy rate, miscarriage rate, cumulative live birth rate, ectopic pregnancy rate, and time to pregnancy. DISCUSSION: In this study, patients who undergo noninvasive embryo viability testing (niEVT) will be compared to women treated by conventional IVF. We will determine the effects on the pregnancy rate, miscarriage rate, and live birth rate and adverse events. We will also investigate whether there is any difference in clinical outcomes among patients with different ages and fertilization protocols (IVF/ICSI). This trial will provide clinical evidence of the effect of noninvasive embryo viability testing on the clinical outcomes of the first embryo transfer. TRIAL REGISTRATION: Chinese Clinical Trial Registry (ChiCTR) Identifier: ChiCTR2100051408. 9 September 2021.


Assuntos
Aborto Espontâneo , Coeficiente de Natalidade , Criança , Feminino , Gravidez , Humanos , Adulto , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Injeções de Esperma Intracitoplásmicas , Taxa de Gravidez , Aneuploidia , Fertilização in vitro , Ensaios Clínicos Controlados Aleatórios como Assunto , Estudos Multicêntricos como Assunto
6.
Sensors (Basel) ; 23(11)2023 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-37300028

RESUMO

The vehicle particle model was built to compare and analyze the effectiveness of three different collision avoidance methods. The results show that during vehicle high-speed emergency collision avoidance, lane change collision avoidance requires a smaller longitudinal distance than braking collision avoidance and is closer to that with a combination of lane change and braking collision avoidance. Based on the above, a double-layer control strategy is proposed to avoid collision when vehicles change lanes at high speed. The quintic polynomial is chosen as the reference path after comparing and analyzing three polynomial reference trajectories. The multiobjective optimized model predictive control is used to track the lateral displacement, and the optimization objective is to minimize the lateral position deviation, yaw rate tracking deviation, and control increment. The lower longitudinal speed tracking control strategy is to control the vehicle drive system and brake system to track the expected speed. Finally, the lane changing conditions and other speed conditions of the vehicle at 120 km/h are verified. The results show that the control strategy can track the longitudinal and lateral trajectories well and achieve effective lane change and collision avoidance.


Assuntos
Acidentes de Trânsito , Condução de Veículo , Acidentes de Trânsito/prevenção & controle , Equipamentos de Proteção , Algoritmos
7.
Mol Microbiol ; 116(6): 1512-1532, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34797006

RESUMO

Numerous transcription factors (TFs) in ascomycete fungi play crucial roles in cellular processes; however, how most of them function is poorly understood. Here, we identified and characterized a novel TF, CxrC (POX01387), acting downstream of the key TF CxrA, which is essential for plant-biomass-degrading-enzyme (PBDE) production in Penicillium oxalicum. Deletion of cxrC in P. oxalicum significantly affected the production of PBDEs, as well as mycelial growth and conidiospore production. CxrA directly repressed the expression of cxrC after about 12 hr following switch to Avicel culture. CxrC bound the promoters of major PBDE genes and genes involved in conidiospore development. CxrC was found to bind the TSSGTYR core sequence (S: C and G; Y: T and C; R: G and A) of the important cellulase genes cbh1 and eg1. Both N- and C-terminal peptides of CxrC and the CxrC phosphorylation were found to mediate its homodimerization. The conserved motif LPSVRSLLTP (65-74) in CxrC was found to be required for regulating cellulase production. This study reveals novel mechanisms of TF-mediated regulation of the expression of PBDE genes and genes involved in cellular processes in an ascomycete fungus.


Assuntos
Proteínas Fúngicas/metabolismo , Penicillium/metabolismo , Fatores de Transcrição/metabolismo , Motivos de Aminoácidos , Celulase/antagonistas & inibidores , Celulase/genética , Proteínas Fúngicas/química , Proteínas Fúngicas/genética , Regulação Fúngica da Expressão Gênica , Penicillium/química , Penicillium/genética , Penicillium/crescimento & desenvolvimento , Regiões Promotoras Genéticas , Esporos Fúngicos/química , Esporos Fúngicos/genética , Esporos Fúngicos/crescimento & desenvolvimento , Esporos Fúngicos/metabolismo , Fatores de Transcrição/química , Fatores de Transcrição/genética
8.
Nat Mater ; 20(8): 1073-1078, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33462466

RESUMO

Two-dimensional (2D) crystals are promising materials for developing future nano-enabled technologies1-6. The cleavage of weak, interlayer van der Waals bonds in layered bulk crystals enables the production of high-quality 2D, atomically thin monolayers7-10. Nonetheless, as earth-abundant compounds, metal oxides are rarely accessible as pure and fully stoichiometric monolayers owing to their ion-stabilized 'lamellar' bulk structure11-14. Here, we report the discovery of a layered planar hexagonal phase of oxides from elements across the transition metals, post-transition metals, lanthanides and metalloids, derived from strictly controlled oxidation at the metal-gas interface. The highly crystalline monolayers, without the support of ionic dopants or vacancies, can easily be mechanically exfoliated by stamping them onto substrates. Monolayer and few-layered hexagonal TiO2 are characterized as examples, showing p-type semiconducting properties with hole mobilities of up to 950 cm2 V-1 s-1 at room temperature. The strategy can be readily extended to a variety of elements, possibly expanding the exploration of metal oxides in the 2D quantum regime.

9.
Dev Sci ; 25(2): e13161, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34288292

RESUMO

Abundant behavioral studies have demonstrated high comorbidity of reading and handwriting difficulties in developmental dyslexia (DD), a neurological condition characterized by unexpectedly low reading ability despite adequate nonverbal intelligence and typical schooling. The neural correlates of handwriting deficits remain largely unknown; however, as well as the extent that handwriting deficits share common neural bases with reading deficits in DD. The present work used functional magnetic resonance imaging to examine brain activity during handwriting and reading tasks in Chinese dyslexic children (n = 18) and age-matched controls (n = 23). Compared to controls, dyslexic children exhibited reduced activation during handwriting tasks in brain regions supporting sensory-motor processing (including supplementary motor area and postcentral gyrus) and visual-orthography processing (including bilateral precuneus and right cuneus). Among these regions, the left supplementary motor area and the right precuneus also showed a trend of reduced activation during reading tasks in dyslexics. Moreover, increased activation was found in the left inferior frontal gyrus and anterior cingulate cortex in dyslexics, which may reflect more efforts of executive control to compensate for the impairments of motor and visual-orthographic processing. Finally, dyslexic children exhibited aberrant functional connectivity among brain areas for cognitive control and sensory-motor processes during handwriting tasks. Together, these findings suggest that handwriting deficits in DD are associated with functional abnormalities of multiple brain regions implicated in motor execution, visual-orthographic processing, and cognitive control, providing important implications for the diagnosis and treatment of dyslexia.


Assuntos
Dislexia , Encéfalo , Mapeamento Encefálico , Criança , China , Escrita Manual , Humanos , Imageamento por Ressonância Magnética/métodos , Leitura
10.
IUBMB Life ; 73(1): 159-176, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33220169

RESUMO

Emerging evidence suggests the important involvements of circular RNAs (circRNAs) in cancer progression. This study focuses on the function of Circ_0109046 on the malignancy of endometrial carcinoma (EC) cells and the molecules involved. First, high expression of Circ_0109046 was found in EC tissues compared to the adjacent tissues, and it predicted unfavorable prognosis in patients. Similarly, high expression of Circ_0109046 was confirmed in EC cells relative to that in normal endometrial epithelial cells. Silencing of Circ_0109046 in AN3-CA cells inhibited proliferation and aggressiveness but increased apoptosis of cells. Circ_0109046 was mainly sub-localized in cytoplasm, and it mediated SOX9 expression through sponging microRNA (miR)-105. The proliferation and aggressiveness of EC cells suppressed by Circ_0109046 downregulation was recovered upon SOX9 overexpression. SOX9 activated the Wnt/ß-catenin pathway. Furthermore, downregulation of Circ_0109046 reduced the growth of xenograft tumors in nude mice. This study evidenced that Circ_0109046 upregulates SOX9 expression through sponging miR105, leading to activation of Wnt/ß-catenin signaling and the malignant growth of EC. This study may offer novel understanding in EC treatment.


Assuntos
Neoplasias do Endométrio/patologia , Regulação Neoplásica da Expressão Gênica , MicroRNAs/genética , RNA Circular/genética , Fatores de Transcrição SOX9/metabolismo , Proteína Wnt1/metabolismo , beta Catenina/metabolismo , Animais , Apoptose , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Movimento Celular , Proliferação de Células , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/metabolismo , Feminino , Humanos , Camundongos , Camundongos Endogâmicos BALB C , Camundongos Nus , Pessoa de Meia-Idade , Prognóstico , Fatores de Transcrição SOX9/genética , Taxa de Sobrevida , Células Tumorais Cultivadas , Proteína Wnt1/genética , Ensaios Antitumorais Modelo de Xenoenxerto , beta Catenina/genética
11.
Cereb Cortex ; 30(3): 1528-1537, 2020 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-31512720

RESUMO

Men and women process language differently, but how the brain functions to support this difference is poorly understood. A few studies reported sex influences on brain activation for language, whereas others failed to detect the difference at the functional level. Recent advances of brain network analysis have shown great promise in picking up brain connectivity differences between sexes, leading us to hypothesize that the functional connections among distinct brain regions for language may differ in males and females. To test this hypothesis, we scanned 58 participants' brain activities (28 males and 30 females) in a semantic decision task using functional magnetic resonance imaging. We found marked sex differences in dynamic interactions among language regions, as well as in functional segregation and integration of brain networks during language processing. The brain network differences were further supported by a machine learning analysis that accurately discriminated males from females using the multivariate patterns of functional connectivity. The sex-specific functional brain connectivity may constitute an essential neural basis for the long-held notion that men and women process language in different ways. Our finding also provides important implications for sex differences in the prevalence of language disorders, such as dyslexia and stuttering.


Assuntos
Encéfalo/fisiologia , Idioma , Vias Neurais/fisiologia , Caracteres Sexuais , Mapeamento Encefálico/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Semântica
12.
Sensors (Basel) ; 22(1)2021 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-35009847

RESUMO

Reversible H2 gas sensing at room temperature has been highly desirable given the booming of the Internet of Things (IoT), zero-emission vehicles, and fuel cell technologies. Conventional metal oxide-based semiconducting gas sensors have been considered as suitable candidates given their low-cost, high sensitivity, and long stability. However, the dominant sensing mechanism is based on the chemisorption of gas molecules which requires elevated temperatures to activate the catalytic reaction of target gas molecules with chemisorbed O, leaving the drawbacks of high-power consumption and poor selectivity. In this work, we introduce an alternative candidate of cobalt oxysulfide derived from the calcination of self-assembled cobalt sulfide micro-cages. It is found that the majority of S atoms are replaced by O in cobalt oxysulfide, transforming the crystal structure to tetragonal coordination and slightly expanding the optical bandgap energy. The H2 gas sensing performances of cobalt oxysulfide are fully reversible at room temperature, demonstrating peculiar p-type gas responses with a magnitude of 15% for 1% H2 and a high degree of selectivity over CH4, NO2, and CO2. Such excellent performances are possibly ascribed to the physisorption dominating the gas-matter interaction. This work demonstrates the great potentials of transition metal oxysulfide compounds for room-temperature fully reversible gas sensing.

13.
Reprod Biol Endocrinol ; 18(1): 15, 2020 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-32113484

RESUMO

BACKGROUND: The study is aimed to provide prediction for fertility risk in the setting of assisted reproduction for a woman with complex chromosomal rearrangements (CCRs). METHODS: We implemented a robust approach, which combined whole-genome low-coverage mate-pair sequencing (WGL-MPS), junction-spanning PCR and preimplantation genetic testing for aneuploidy (PGT-A) method to provide accurate chromosome breakpoint junctional sequences in the embryo selection process in the setting of assisted reproduction for a couple with recurrent abortions due to CCRs. RESULT: WGL-MPS was applied to a female carrying CCRs which consisted of 9 breakpoints and 1 cryptic deletion related to fertility risks. Sequencing data provided crucial information for designing junction-spanning PCR and PGT-A process, which was performed on the 11 embryos cultivated. One embryo was considered qualified for transplanting, which carried the exact same CCRs as the female carrier, whose phenotype was normal. The amniotic fluid was also investigated by WGL-MPS and karyotyping at 19 weeks' gestation, which verified the results that the baby carried the same CCRs. A healthy baby was born at 39 weeks' gestation by vaginal delivery. CONCLUSION(S): Our study illustrates the WGL-MPS approach combining with junction-spanning PCR and PGT-A is a powerful and practical method in the setting of assisted reproduction for couples with recurrent miscarriage due to chromosomal abnormalities, especially CCRs carriers.


Assuntos
Aborto Habitual/genética , Aberrações Cromossômicas , Diagnóstico Pré-Implantação/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 5/genética , Transferência Embrionária/métodos , Feminino , Testes Genéticos/métodos , Humanos , Recém-Nascido , Masculino , Gravidez , Técnicas de Reprodução Assistida
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 938-941, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820503

RESUMO

OBJECTIVE: To explore the correlation between microRNA (miRNA) differential expression and quality of embryo. METHODS: The miRNA expression profiles of 8 blastocysts were detected by a TaqMan microRNA array, and miRNAs with a stable expression were selected. Additional blastocysts were selected, and the candidate miRNA was detected by real-time PCR. Meanwhile, chromosomal abnormalities of the embryos were detected by using next-generation sequencing, and the results were compared. RESULTS: The expression of mir-720, mir-372, mir-886-3p and mir-512-3p was higher than that of miR-145, which suggested that mir-720, mir-372, mir-886-3p and mir-512-3p are related to early embryo development. The expression of miR-145 and mir-886-3p were significantly lower in the normal chromosome group. With the threshold values of above 9 and 3 for the relative expression of miR-145 and mir-886-3p, respectively, there was no embryo without a chromosomal abnormality. CONCLUSION: There is a correlation between the expression level of specific miRNA and chromosomal abnormalities of embryos, which may be used as a novel biomarker for embryo selection.


Assuntos
Aberrações Cromossômicas , Testes Genéticos , MicroRNAs , Diagnóstico Pré-Implantação , Biomarcadores , Blastocisto , Perfilação da Expressão Gênica , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , MicroRNAs/genética , Reação em Cadeia da Polimerase em Tempo Real
15.
Small ; 15(9): e1805251, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30677221

RESUMO

Silicon photonics has demonstrated great potential in ultrasensitive biochemical sensing. However, it is challenging for such sensors to detect small ions which are also of great importance in many biochemical processes. A silicon photonic ion sensor enabled by an ionic dopant-driven plasmonic material is introduced here. The sensor consists of a microring resonator (MRR) coupled with a 2D restacked layer of near-infrared plasmonic molybdenum oxide. When the 2D plasmonic layer interacts with ions from the environment, a strong change in the refractive index results in a shift in the MRR resonance wavelength and simultaneously the alteration of plasmonic absorption leads to the modulation of MRR transmission power, hence generating dual sensing outputs which is unique to other optical ion sensors. Proof-of-concept via a pH sensing model is demonstrated, showing up to 7 orders improvement in sensitivity per unit area across the range from 1 to 13 compared to those of other optical pH sensors. This platform offers the unique potential for ultrasensitive and robust measurement of changes in ionic environment, generating new modalities for on-chip chemical sensors in the micro/nanoscale.

16.
Eur Child Adolesc Psychiatry ; 28(7): 933-947, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30470952

RESUMO

Studies have examined the association between parental body mass index (BMI) and autism spectrum disorder (ASD) in offspring, with inconsistent results, especially regarding maternal obesity, overweight and underweight. Cochrane Library, EMBASE, PubMed and PsycINFO databases were searched up to March 2018 for relevant observational studies with no language restriction. Our literature search identified 13 eligible studies for meta-analysis (involving 943,293 children and 30,337 cases). For maternal BMI (13 studies), both maternal obesity [OR 1.41 (95% CI 1.19-1.67)] and maternal overweight [OR 1.16 (95% CI 1.05-1.27)] were significantly associated with ASD, while maternal underweight was not associated with ASD [OR 1.08 (95% CI 0.98-1.20)]. For paternal BMI (three studies), no association was found (paternal obesity: OR 1.28, 95% CI 0.94-1.74; overweight: OR 1.07, 95% CI 0.99-1.15; underweight: OR 1.12, 95% CI 0.87-1.44). Pooled estimates were robust in sensitivity analysis and subgroup analyses. Publication bias may exist for studies assessing maternal BMI and ASD risk, but the filled estimates were not altered. Relative to normal weight, maternal obesity and overweight were significantly associated with increased ASD risk, while maternal underweight was not associated with ASD. Although no association between paternal BMI and ASD was found, current evidence is limited (three studies). Future studies are warranted to address more confounding factors and to identify potential mediators of the association, but pre-pregnancy weight control is suggested.


Assuntos
Transtorno do Espectro Autista/etiologia , Índice de Massa Corporal , Pais/psicologia , Transtorno do Espectro Autista/patologia , Pré-Escolar , Feminino , Humanos , Lactente , Gravidez
17.
Zhonghua Nan Ke Xue ; 25(5): 291-295, 2019 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-32216208

RESUMO

With the rapid development of precision medicine and big data application, artificial intelligence (AI) has become a frontier technology in medical research. AI can be applied to the clinical diagnosis and treatment of reproductive diseases, prediction of pregnancy outcomes for infertile patients via the multi-layer neural network, and identification of the embryos with more developing potential from a series of embryo images by extraction of their texture features. AI can also provide medical workers with more accurate diagnosis and individualized treatment of reproductive diseases and help the patients better predict their reproductivity. This article presents an overview of the status quo, existing problems and future development of the application of AI in reproductive medicine.


Assuntos
Inteligência Artificial , Pesquisa Biomédica/tendências , Medicina Reprodutiva/tendências , Feminino , Humanos , Gravidez , Resultado da Gravidez
19.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(1): 96-99, 2018 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-29419871

RESUMO

OBJECTIVE To assess the value of whole genome sequencing for the identification of de novo structural chromosomal abnormalities. METHODS Whole genome sequencing was utilized to analyze a boy with a peripheral blood karyotype of 46,XY,ins(3)(q21p13p21). The patient manifested with ocular abnormalities including blepharophimosis and ptosis. RESULTS Whole genome sequencing suggested a fragmentation of chromosome 3 (from position 55 473 257 to 78 341 929) has been inserted into between 136 876 730 to 138 643 831, and the breakpoints have occurred in the intergenic region. Meanwhile, there was a deletion between 138 643 831 and 138 694 476. This region contains FOXL2, a pathogenic gene associated with blepharophimosis-ptosis-epicanthus inversus syndrome. CONCLUSION De novo structural chromosomal abnormalities may be caused by novel breakpoints or microdeletion flanking the deletion region. To confirm its pathogenic nature, a mutation needs to be assessed at both genetic and genomic levels, for which whole genome sequencing is a good option.


Assuntos
Blefarofimose/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Anormalidades da Pele/genética , Anormalidades Urogenitais/genética , Sequenciamento Completo do Genoma/métodos , Proteína Forkhead Box L2/genética , Deleção de Genes , Humanos , Lactente , Cariotipagem , Masculino
20.
Hum Reprod ; 32(4): 733-742, 2017 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-28175305

RESUMO

Study question: Are multimeric sperm plasma membrane protein complexes, ERp57 and sperm surface thiol content involved in human spermatozoa-zona pellucida (ZP) interaction? Summary answer: ERp57 is a component of a multimeric spermatozoa-ZP receptor complex involved in regulation of human spermatozoa-ZP binding via up-regulation of sperm surface thiol content. What is known already: A spermatozoon acquires its fertilization capacity within the female reproductive tract by capacitation. Spermatozoa-ZP receptor is suggested to be a composite structure that is assembled into a functional complex during capacitation. Sperm surface thiol content is elevated during capacitation. ERp57 is a protein disulphide isomerase that modulates the thiol-disulphide status of proteins. Study design, size, duration: The binding ability and components of protein complexes in extracted membrane protein fractions of spermatozoa were studied. The roles of capacitation, thiol-disulphide reagent treatments and ERp57 on sperm functions and sperm surface thiol content were assessed. Participants/materials, setting, methods: Spermatozoa were obtained from semen samples from normozoospermic men. Human oocytes were obtained from an assisted reproduction programme. Blue native polyacrylamide gel electrophoresis, western ligand blotting and mass spectrometry were used to identify the components of solubilized ZP/ZP3-binding complexes. The localization and expression of sperm surface thiol and ERp57 were studied by immunostaining and sperm surface protein biotinylation followed by western blotting. Sperm functions were assessed by standard assays. Main results and the role of chance: Several ZP-binding complexes were isolated from the cell membrane of capacitated spermatozoa. ERp57 was a component of one of these complexes. Capacitation significantly increased the sperm surface thiol content, acrosomal thiol distribution and ERp57 expression on sperm surface. Sperm surface thiol and ERp57 immunoreactivity were localized to the acrosomal region of spermatozoa, a region responsible for ZP-binding. Up-regulation of the surface thiol content or ERp57 surface expression in vitro stimulated ZP-binding capacity of human spermatozoa. Blocking of ERp57 function by specific antibody or inhibitors against ERp57 reduced the surface thiol content and ZP-binding capacity of human spermatozoa. Large scale data: N/A. Limitations, reasons for caution: The mechanisms by which up-regulation of surface thiol content stimulates spermatozoa-ZP binding have not been depicted. Wider implications of the findings: Thiol-disulphide exchange is a crucial event in capacitation. ERp57 modulates the event and the subsequent fertilization process. Modulation of the surface thiol content of the spermatozoa of subfertile men may help to increase fertilization rate in assisted reproduction. Study funding/competing interest(s): This work was supported by The Hong Kong Research Grant Council Grant HKU764611 and HKU764512M to P.C.N.C. The authors have no competing interests.


Assuntos
Isomerases de Dissulfetos de Proteínas/fisiologia , Interações Espermatozoide-Óvulo , Compostos de Sulfidrila/metabolismo , Acrossomo/metabolismo , Feminino , Humanos , Masculino , Isomerases de Dissulfetos de Proteínas/genética , Capacitação Espermática , Espermatozoides/metabolismo , Compostos de Sulfidrila/análise , Regulação para Cima , Zona Pelúcida/metabolismo
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