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1.
Mol Cytogenet ; 14(1): 5, 2021 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-33451353

RESUMO

BACKGROUND: Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic. CASE PRESENTATION: Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part NLRP12 gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445 Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of NLRP12 gene could have a causative role in autoinflammatory diseases development. The genotype-phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities. CONCLUSIONS: The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.

2.
Medicine (Baltimore) ; 100(1): e24224, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429816

RESUMO

RATIONALE: Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic. PATIENT CONCERNS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings. DIAGNOSES: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus. INTERVENTIONS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy. OUTCOMES: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database. LESSONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.

3.
Medicine (Baltimore) ; 100(1): e24227, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429818

RESUMO

RATIONALE: 1q21.1 duplication is an uncommon chromosomal submicroscopic imbalance which is associated with growth/mental retardation, dysmorphic features, autism, multiple congenital and neuropsychiatric disorders. PATIENT CONCERNS: Two pregnant women underwent amniocentesis for cytogenetic analysis and chromosomal microarray analysis (CMA) following abnormal ultrasound findings. Case 1 presented short nasal bone and case 2 showed absent nasal bone, ventricular septal defect and umbilical cord circling in ultrasonic examination. DIAGNOSES: G-banding analysis showed that the two fetuses presented normal karyotypic results while CMA detected 1.796 Mb (case 1) and 1.242 Mb (case 2) microduplications in the region of 1q21.1q21.2 separately. Furthermore, the CMA also revealed a 1.2 Mb microdeletion of 8p23.3 in case 1. INTERVENTIONS: The couple in case 1 chose to terminate the pregnancy, while the couple in case 2 continued the pregnancy and finally delivered a male infant who presented low nasal bridge and ventricular septal defect. OUTCOMES: The 1q21.1q21.2 duplications in our report were located in the distal 1q21.1 region, overlapping with 1q21.1 duplication syndrome. Case 2 was the first reported live birth with 1q21.1 duplication according to prenatal CMA detection in China. LESSONS: The genotype-phenotype of 1q21.1 duplication is complicated due to the phenotypic diversity, incomplete penetrance, and lack of obvious characteristics. So it is difficult to predict the postnatal development and health conditions clinically. Hence, long term follow up is necessary for newborn infants with 1q21.1 duplication, irrespective of whether the duplication is de novo or inherited.

4.
Cancer Res Treat ; 53(1): 223-232, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32972048

RESUMO

PURPOSE: The evidence of adherence to cancer prevention guidelines and endometrial cancer (EC) risk has been limited and controversial. This study summarizes and quantifies the relationship between adherence to cancer prevention guidelines and EC risk. Materials and Methods: The online databases PubMed, Web of Science, and EMBASE were searched for relevant publications up to June 2, 2020. This study had been registered at PROSPERO. The registration number is CRD42020149966. Study quality evaluation was performed based on the Newcastle-Ottawa Scale. The I2 statistic was used to estimate heterogeneity among studies. Egger's and Begg's tests assessed potential publication bias. Summary hazard ratios (HRs) and 95% confidence intervals (CIs) for the relationship between adherence to cancer prevention guidelines score was assigned to participants by summarizing individual scores for each lifestyle-related factor. The scores ranged from least healthy (0) to most healthy (20) and the EC risk was calculated using a randomeffects model. RESULTS: Five prospective studies (four cohort studies and one case­cohort study) consisted of 4,470 EC cases, where 597,047 participants were included. Four studies had a low bias risk and one study had a high bias risk. Summary EC HR for the highest vs. lowest score of adherence to cancer prevention guidelines was 0.54 (95% CI, 0.40 to 0.73) and had a high heterogeneity (I2=86.1%). For the dose-response analysis, an increment of 1 significantly reduced the risk of EC by 6%. No significant publication bias was detected. CONCLUSION: This study suggested that adherence to cancer prevention guidelines was negatively related to EC risk.

5.
Biomed Res Int ; 2020: 4976204, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33344636

RESUMO

Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature. Cytogenetic methods, including karyotyping and fluorescence in situ hybridization (FISH), revealed the translocation. Chromosomal microarray comparative genomic hybridization (array-CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication. Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively. Short-stature-homeobox gene deletion was responsible for the short stature in both subjects. PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis. This report further supports the use of routine karyotype analysis, FISH-based technology, and array-CGH analysis to identify derivative chromosomes in a complex rearrangement.

6.
J Clin Lab Anal ; : e23614, 2020 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-33280174

RESUMO

BACKGROUND: Chromosome translocation is a genetic factor associated with male infertility. However, cases of Y chromosome/autosome translocation are rare. Individuals with translocation between the Y chromosome and an autosome have a variety of different clinical phenotypes. There is a need for further study of molecular cytogenetic feature of those with Y chromosome translocation. METHODS: We reported that an apparently healthy 31-year-old man, 168 cm tall and weighing 65 kg, had a 2-year history of primary infertility after marriage. Clinical diagnostic techniques included semen analysis, hormone measurements, cytogenetic analysis, fluorescence in situ hybridization (FISH), and high-throughput multiplex ligation-dependent probe amplification semiconductor sequencing. Detailed genetic counseling was provided to the patient. Intracytoplasmic sperm injection treatment combined with preimplantation genetic diagnosis was chosen with the aim of achieving a successful pregnancy. RESULTS: Semen analysis revealed cryptozoospermia. Hormone levels were within the normal limits. Sequencing results indicated the presence of the sex-determining region on Yp, and AZFa, AZFb, and AZFc regions on Yq. The patient's karyotype was 45,X,psu,dic(Y;14)(p11.3;q11.2), which was confirmed by cytogenetic analysis and FISH. CONCLUSION: This study reports a case of cryptozoospermia in a male patient with a Y;14 chromosomal translocation. When clinical karyotyping has revealed potential Y chromosome abnormality, FISH or molecular detection should be further performed to facilitate identification of the chromosomal breakpoint.

7.
Taiwan J Obstet Gynecol ; 59(6): 910-915, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33218411

RESUMO

OBJECTIVE: To retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these fetuses. MATERIALS AND METHODS: 490 fetuses with chromosomal polymorphisms among 9996 pregnant women who underwent prenatal cytogenetic diagnosis were included in this study and were set as group 1. Other 500 pregnant women, whose fetuses were with normal karyotypes, were randomly selected from the remaining pregnant women and set as group 2. Clinical information and outcomes and maternal serum screening results of group 1 were compared with group 2. RESULTS: The frequency of fetal chromosomal polymorphism was 4.90% (490/9996). The most common variants observed were 1/9/16 qh± (2.27%, 227/9996), followed by inv(9) (0.90%, 90/9996). 94.62% (264/279) of fetal chromosomal variants were inherited from parents. No statistical difference was found in clinical information and outcomes and maternal serum screening results between group 1 and group 2. CONCLUSION: The fetus with chromosomal polymorphism has no impact on serum markers of second trimester screening and does not play an important role for the clinical outcome of the current pregnancy either, whether it is inherited from the parents or a de novo mutation.

8.
Taiwan J Obstet Gynecol ; 59(6): 963-967, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33218423

RESUMO

OBJECTIVE: We characterized a maternally inherited small supernumerary marker chromosome (sSMC) derived from chromosome 15 according to prenatal detection and made a review on the prenatal sSMC(15) cases with mosaic maternal inheritance. CASE REPORT: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal serum screening. No abnormalities were observed in prenatal ultrasound findings. G-banding analysis revealed a karyotype of 47,XX,+mar. Subsequently, we recalled the couple back for chromosomal analysis. The father's karyotype was normal while the mother's karyotype was 47,XX,+mar[15]/46,XX[35]. Molecular genetic analysis was utilized to identify the marker chromosome. The chromosomal microarray analysis (CMA) results of the mother showed there existed microduplications in the locus of 14q32.33, 15q21.1, 19p12 and Xq26.2, respectively. Then Fluorescence in situ hybridization (FISH) using specific probes for chromosomes 13/21, 14/22, and 15 was applied on the mother and the fetus. And the marker chromosomes for the mother and the fetus were all finally identified as inv dup(15) (D15Z1++, SNRPN-, PML-), which illustrated that the fetus inherited the sSMC(15) from her mother. Finally, a healthy female infant was delivered with no phenotypic abnormalities at 39 weeks. CONCLUSION: The combined utilization of the molecular genetic technologies, such as FISH and CMA, plays a critical role in the identification of the origins and genetic constitutions of sSMC, which would make a significant contribution to genetic counseling and prenatal diagnosis.

9.
Medicine (Baltimore) ; 99(40): e22496, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019446

RESUMO

RATIONALE: 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality with incomplete penetrance and phenotypic variability. The reports on prenatal ultrasound abnormalities of fetus with 15q11.2 microdeletion are rare. PATIENT CONCERNS: A 30-year-old woman was referred for genetic counseling and prenatal diagnosis at 19 weeks of gestation because of increased nuchal translucency in prenatal ultrasound findings and a history of spontaneous abortion. DIAGNOSES: The cytogenetic analysis showed the karyotype of the fetus was 46,XY, inv(4)(p15q31) and chromosomal microarray analysis detected a 0.512 Mb deletion in 15q11.2 region. We recalled the parents to determine the origination of these chromosomal abnormalities. INTERVENTIONS: The pregnant woman chose to continue the pregnancies and finally delivered a healthy male infant at 39 weeks. OUTCOMES: The fetus inherited the inv(4)(p15q31) from his mother while the deletion in 15q11.2 was identified as de novo. Given the normal phenotype of the mother, it was reasonable to assume that the maternal inherited inv(4) in the fetus would not increase the risk of his abnormal phenotype. However, the pathogenicity of the microdeletion in 15q11.2 for the infant is unknown and long-term follow-up of progeny should be paid more attention. LESSONS: The combined application of traditional banding technique and molecular cytogenetic techniques can not only detect chromosomal structural abnormalities, but also identify the subchromosomal imbalances, which is beneficial to genetic counselling and would offer more guidance to prenatal diagnosis.


Assuntos
Deficiência Intelectual/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Aberrações Cromossômicas , Cromossomos Humanos Par 15 , Feminino , Aconselhamento Genético , Humanos , Cariotipagem , Medição da Translucência Nucal , Gravidez
10.
Infect Dis Ther ; 9(4): 1029-1041, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33067768

RESUMO

INTRODUCTION: The evolution of computed tomography (CT) findings in patients with mild coronavirus disease 2019 (COVID-19) pneumonia has not been described in detail. A large-scale longitudinal study is urgently required. METHODS: We analyzed 606 CT scans of 182 patients. The dynamic evolution of CT scores was evaluated using two staging methods: one was divided into 10 periods based on decile intervals, and the other was one stage per week. Moreover, the latter was used to evaluate the dynamic evolution of imaging performance. A published severity scoring system was used to compare findings of the two methods. RESULTS: In the dynamic evolution of 10 stages, the total lesion CT score peaked during stage 3 (9-11 days) and stage 6 (17-18 days), with scores = 7.19 ± 3.66 and 8.00 ± 4.57, respectively. The consolidation score peaked during stage 6 (17-18 days; score = 2.72 ± 3.07). In contrast, when a 1-week interval was used and time was divided into five stages, the total lesion score peaked during week 3 (score = 7.3 ± 4.15). The consolidation score peaked during week 2 (score = 2.54 ± 3.25). The predominant CT patterns differed significantly during each stage (P < 0.01). Ground-glass opacities (GGO), with an increased trend during week 3 and beyond, was the most common pattern in each stage (33-46%). The second most common patterns during week 1 were GGO and consolidation (24%). The linear opacity pattern with an increased trend was the second most common pattern during week 2 and beyond (21-32%). CONCLUSIONS: The total lesion score of mild COVID-19 pneumonia peaked 17-18 days after disease onset. The consolidation scores objectively reflected the severity of the lung involvement compared with total lesion scores. Each temporal stage of mild COVID-19 pneumonia mainly manifested as GGO pattern. Moreover, good prognosis may be associated with increases in the proportions of the GGO and linear opacity patterns during the later stage of disease.

11.
Artigo em Inglês | MEDLINE | ID: mdl-33118065

RESUMO

Evidence links exposure to maternal sulfur dioxide (SO2) and the risk of limb defects have been inconsistent. To investigate associations between SO2 exposure during preconception and the first trimester and risks of polydactyly and syndactyly. The study population was acquired from the Maternal and Child Health Certificate Registry of Liaoning Province between 2010 to 2015, and consisted of 2605 polydactyly, 595 syndactyly cases, and 7950 controls. Ambient air pollutants levels were retrieved from air quality monitoring stations. We used multivariable logistic regression model to assess the adjusted odds ratios (ORs) and 95% confidence intervals (CIs). We found that exposure to increased SO2 concentrations was associated with polydactyly during both the 3 months preconception (ORQ4 vs. Q1 = 3.76; 95% CI 2.61, 5.42; per 10 µg/m3 increment: OR = 1.07; 95% CI 1.04, 1.10) and the first trimester (ORQ4 vs. Q1 = 2.03; 95% CI 1.41, 2.92; per 10 µg/m3 increment: OR = 1.07; 95% CI 1.03, 1.11). However, we only observed increased risk for syndactyly in the analysis of high vs. low quartiles (three months preconception: ORQ4 vs. Q1 = 3.72; 95% CI 2.05, 6.75; first trimester: ORQ4 vs. Q1 = 1.98; 95% CI 1.11, 3.51). Most results of analyses based on single-month exposure window generally showed similar positive associations. Additionally, these findings were broadly consistent across subgroups and sensitivity analyses. Maternal SO2 exposure increase the risk of polydactyly and syndactyly.

12.
Reprod Domest Anim ; 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33001490

RESUMO

Steroid hormones and receptors play important roles in female reproduction, and their expression patterns affect follicular growth and development. To examine the expression of dihydrotestosterone (DHT) synthases (5α-reductases (5α-red1 and 5α-red2)) and androgen receptor (AR) during follicular development, and the regulation of DHT signalling by follicle-stimulating hormone (FSH) and luteinizing hormone (LH), we have used enzyme-linked immunosorbent assays, quantitative real-time polymerase chain reaction, immunohistochemical staining and Western blotting to examine DHT synthesis in small (≤2 mm), medium (2-5 mm) and large (≥5 mm) sheep follicles. Expression of 5α-red1, 5α-red2 and AR was observed in ovine ovaries, and with the development of follicles, the expressions of 5α-red1 and 5α-red2 mRNA and protein increased, but the levels of AR mRNA, protein and DHT level decreased. In addition, granulosa cells were treated with FSH (0.01, 0.1 and 1 international unit (IU)/ml), LH (0.01, 0.1 and 1 IU/ml) and testosterone (T, 10-7  M) to evaluate the effects of FSH and LH on DHT and oestradiol (E2) synthesis and 5α-red1, 5α-red2 and AR expression. We found that FSH and LH upregulated 5α-red1 and 5α-red2 in sheep granulosa cells, but downregulated the concentration of DHT and expression of AR. Meanwhile, FSH and LH significantly upregulated the expression of aromatase (P450arom) and secretion of E2. This result indicates that although FSH and LH promote the expression of 5α-red1 and 5α-red2, T is not transformed into DHT, but E2. This study reveals the reason why DHT concentration is downregulated in large follicles and lays a foundation for further exploring the synthesis mechanism of DHT during follicular development.

13.
Medicine (Baltimore) ; 99(37): e22124, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32925763

RESUMO

RATIONALE: This study aimed to report 1 family case with novel Y chromosome structural variations by an established next-generation sequencing (NGS) method using unique STSs. PATIENT CONCERNS: The case studied was from a family with a father and son (the proband). G-band staining was used for karyotype analysis. Y chromosome microdeletions were detected by sequence-tagged site (STS)-PCR analysis and a new NGS screening strategy. DIAGNOSES: Semen analysis showed that the proband was azoospermic. The patient had an abnormal karyotype (45,X[48%]/46,XY[52%]). His father exhibited a normal karyotype. STS-PCR analysis showed that the proband had a deletion of the AZFb+c region, and his father had no deletion of STS markers examined. The sequencing method revealed that the patient had DNA sequence deletions from nt 20099846 to nt 28365090 (8.3 Mb), including the region from yel4 to the Yq terminal, and his father exhibited a deletion of b1/b3 and duplication of gr/gr. INTERVENTIONS: The proband was advised to undergo genetic counseling, and consider the use of sperm from a sperm bank or adoption to become a father. OUTCOMES: The proband was azoospermic. AZFc partial deletions may produce a potential risk for large AZFb+c deletions or abnormal karyotypes causing spermatogenic failure in men. LESSONS: The NGS method can be considered a clinical diagnostic tool to detect Y chromosome microdeletions. The partial AZFc deletions and/or duplications can be a risk of extensive deletions in offspring.


Assuntos
Infertilidade Masculina/diagnóstico , Infertilidade Masculina/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adulto , Deleção Cromossômica , Cromossomos Humanos Y/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cariotipagem , Masculino , Sitios de Sequências Rotuladas , Aberrações dos Cromossomos Sexuais
14.
Mol Immunol ; 127: 21-30, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32905905

RESUMO

Estrogen has known anti-inflammatory effects, but the mechanism whereby 17ß-estradiol (E2) protects oviduct sheep epithelial cells from inflammation remains unknown. In this study, we detected the E2 synthetase and E2 nuclear and membrane receptors in sheep oviducts, primarily in epithelial cells. Using lipopolysaccharide (LPS)-stimulated sheep oviduct epithelial cells as an in vitro inflammation model, we demonstrated that E2 attenuates the expression of inflammatory factors in a concentration-response manner. E2 also inhibited the LPS-stimulated phosphorylation of p38 MAPK and NF-κB p65 but did not reduce the phosphorylation of JNK and ERK 1/2. This attenuation was partially antagonized by an intracellular estrogen antagonist that was involved in genomic regulation and enhanced by a G protein-coupled estrogen receptor agonist that was involved in nongenomic cellular modulation. These results suggest that E2 has an inhibitory effect on LPS-induced oviduct epithelial cell inflammation in sheep, which is mediated by the downstream regulatory effects of estrogen receptors.


Assuntos
Células Epiteliais/patologia , Estradiol/farmacologia , Inflamação/patologia , Oviductos/patologia , Substâncias Protetoras/farmacologia , Animais , Aromatase/metabolismo , Citocinas/genética , Citocinas/metabolismo , Células Epiteliais/efeitos dos fármacos , Células Epiteliais/metabolismo , Feminino , Fulvestranto/farmacologia , Regulação da Expressão Gênica/efeitos dos fármacos , Imidazóis/farmacologia , Inflamação/genética , Lipopolissacarídeos , Proteínas Quinases Ativadas por Mitógeno/metabolismo , NF-kappa B/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Fosforilação , Inibidores de Proteínas Quinases/farmacologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Piridinas/farmacologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores Estrogênicos/metabolismo , Receptores Acoplados a Proteínas-G/metabolismo , Ovinos , Transdução de Sinais/efeitos dos fármacos
15.
FEBS Open Bio ; 10(10): 2216-2234, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32902197

RESUMO

Transgelin is an actin cross-linking/gelling protein of the calponin family, which is associated with actin stress fibres, cell motility, adhesion and the maintenance of cell morphology. Transgelin-like proteins (TLPs) have also been identified as shell matrix proteins (SMPs) in several mollusc species; however, the functions of TLPs in biomineralization remain unknown. Transgelin-like protein 1 (TLP-1) was previously identified from the shell of Mytilus coruscus as a novel 19 kDa SMP with a calponin homology (CH) domain. To understand the role of TLP-1 in shell formation, the expression level and localization of the TLP-1 gene in biomineralization-related tissues were determined in this study. Furthermore, recombinant TLP-1 was expressed in a prokaryotic expression system with codon optimization, and an anti-rTLP-1 antibody was prepared based on the expressed recombinant TLP-1 (rTLP-1) protein. In vitro, rTLP-1 induced the formation of CaCO3 polymorphic crystals with distinct morphologies and inhibited crystallization rate and crystal interactions. Immunohistochemical, immunofluorescence, and pull-down analyses using the anti-rTLP-1 antibody revealed the specific locations of TLP-1 in biomineralization-related tissues and shell myostracum layer, and suggested the existence of a possible TLP-1 interaction network in the shell matrix. Our results are beneficial for understanding the functions of TLP-1, particularly through its CH domain, during shell mineralization.

16.
J Clin Lab Anal ; : e23582, 2020 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-32951212

RESUMO

BACKGROUND: Trisomy of the short arm of chromosome 17 is a rare genomic disorder. The clinical features of complete trisomy 17p syndrome have been described. Most cases of this syndrome have been found in infants and children, but only a few cases were found by ultrasound in the prenatal period. METHODS: We report a case of complete trisomy 17p syndrome, which was inherited from paternal balanced translocation t(15;17)(q11.2;q11.2). A pregnant woman underwent an ultrasound examination at 24 weeks of gestation. Amniotic fluid was collected by amniocentesis. Cytogenetic and single nucleotide polymorphism array analyses were performed. We further reviewed the relationship between duplication regions and the clinical phenotype. RESULTS: Ultrasonographic evaluation showed intrauterine growth retardation and a right choroid plexus cyst, but the gallbladder was not observed. The fetal karyotype was 46,XX,der(17)t(15;17)(q11.2;q11.2)pat. The father's karyotype was 46,XY,t(15;17)(q11.2;q11.2). The single nucleotide polymorphism array results showed arr[GRCh37] 17p13.3q11.1(525-25309337)×3, which indicated a 25.309-Mb duplication. CONCLUSION: Complete trisomy 17p syndrome shows severe malformations. Intrauterine growth retardation is the most typical manifestation of this syndrome as shown by ultrasonography in the second trimester of pregnancy. The genotype-phenotype relationships of complete trisomy 17p syndrome are not completely consistent. To further determine these relationships, additional cases are necessary to provide more information from ultrasonographic findings during pregnancy.

17.
Biomarkers ; 25(6): 441-448, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32744106

RESUMO

BACKGROUND: Anti-PD-1/PD-L1-based therapy has emerged recently, and we aimed to figure out the latent value of different clinical and molecular factors to predict the efficacy of immune checkpoint inhibitors (ICIs) therapy compared with non-immunotherapy in the first-line setting. METHODS: We assessed the clinical outcomes of 8711 patients in 13 trials receiving anti-PD-1/PD-L1-based therapy or non-immunotherapy as first-line treatment, and different predictors were investigated. RESULTS: Overall, compared with non-immunotherapy, anti-PD-1/PD-L1-based therapy reduced the risk of death by 31% (HR 0.69, 95%CI: 0.60-0.79) for all cancers. Stratified analysis showed that the progression-free survival (PFS) benefit from anti-PD-1/PD-L1-based therapy existed in all three PD-L1 status subgroups (tumour proportion score, TPS ≥50%: HR 0.54, 95%CI: 0.38-0.78; TPS 1-49%: HR 0.56, 95%CI: 0.46-0.68; TPS <1%: HR 0.82, 95%CI: 0.73-0.91; interaction, p < 0.01). ICI therapy also prolonged PFS in males (HR 0.64, 95%CI: 0.50-0.83) and younger patients (HR 0.70, 95%CI: 0.52-0.93), and they might prolong overall survival (OS) in patients without brain metastasis (HR 0.54, 95%CI: 0.41-0.71). CONCLUSION: PD-L1 expression level alone is imperfect to predict the efficacy of anti-PD-1/PD-L1-based therapies as first-line cancer treatment. Meanwhile, sex, age, and status of brain metastases might also be predictive parameters for the selection of cancer patients.

18.
Ying Yong Sheng Tai Xue Bao ; 31(7): 2227-2235, 2020 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-32715685

RESUMO

Methanol, ethyl acetate, and water were used to extract the continuous cropping soils of Panax notoginseng, with the solution/soil ratios of 3:1, 6:1, and 9:1. We investigated the effects of those soil extracts on the growth and population of root-rot pathogens of P. notoginseng. Results showed that the methanol, ethyl acetate and water extracts all promoted mycelial growth of Fusarium oxysporum and Fusarium solani after 72 h of plate culture. The response indices of methanol and ethyl acetate extracts on the growth of F. oxysporum were 14.0%-19.8% and 16.2%-20.2%, being higher than that of water extract (8.9%-14.2%), but without significant difference between diffe-rent extraction ratios. However, methanol extract inhibited the mycelial growth of Alternaria spp. The inhibitory effect was highest at the extraction ratio of 3:1, reaching -33.2% to -38.5%. Ethyl acetate and water extracts did not affect the mycelial growth of Alternaria spp. After four weeks of soil culture, methanol, ethyl acetate and water extracts all increased the F. oxysporum populations. The positive effect of water extract was higher than that of methanol (1.68×104-6.73×104 copies·g-1 dry soil) and ethyl acetate (1.77×104-3.72×104 copies·g-1 dry soil) extracts, being 3.49×106-9.56×106 copies·g-1 dry soil. This increment was weakened along with the increase of extraction ratio. Both water extract and methanol extract with low extraction ratio could increase the F. solani populations, while there were no significant effects of methanol, ethyl acetate and water extracts on the population of Alternaria spp. Therefore, the extracts from continuous P. notoginseng cropping soil showed allopathically promoting effects on the growth and population of root-rot pathogens, F. oxysporum and F. solani, which may be one of the reasons for the occurrence of root rot and other soil-borne diseases in replanted P. notoginseng gardens.


Assuntos
Fusarium , Panax notoginseng , Doenças das Plantas , Raízes de Plantas , Solo
19.
Environ Pollut ; 266(Pt 1): 115089, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32629210

RESUMO

Fluoride has been considered as a risk factor of cardiovascular disease due to its endothelial toxicology. However, the mechanism underlying the endothelial toxicity of fluoride has not been clearly illustrated. MiR-200c-3p was strongly linked with endothelial function and its level is increased in serum of fluorosis patients, but it is unclear the role of miR-200c-3p in the fluoride induced endothelial dysfunction. In this study, we confirmed that fluoride exposure induced the apoptosis of endothelial cells both in established rats model and cultured human umbilical vein endothelial cells (HUVECs). And miR-200c-3p was found to be upregulated in NaF treated HUVECs. Fluoride stimulation increased caspase-dependent apoptosis through miR-200c-3p upregulation, with repressing expression of its target gene Fas-associated phosphatase 1 (Fap-1), which functioned as Fas inhibitor. This resulted in activation of Fas-associated extrinsic apoptosis via interaction with increased Fas, Fadd, Cleaved Caspase-8 and Cleaved Caspase-3. The activation of Fas-associated extrinsic apoptosis was abrogated by miR-200c-3p inhibitor. Furthermore, the antiapoptotic effect of downregulated miR-200c-3p was restored by Fap-1 siRNA. These results suggested a determinant role of the miR-200c-3p/Fap-1 axis in fluoride induced endothelial apoptosis.


Assuntos
MicroRNAs , Animais , Apoptose , Células Endoteliais da Veia Umbilical Humana , Humanos , Ratos , Ativação Transcricional , Regulação para Cima
20.
Vector Borne Zoonotic Dis ; 20(9): 664-669, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32639204

RESUMO

Zika virus (ZIKV) is a mosquito-borne pathogen classified in the genus Flavivirus of the family Flaviviridae. Vertical transmission is considered to be the primary way to maintain some arboviruses under adverse natural conditions, which play a critical epidemiological role in arbovirus spread and maintenance. Aedes aegypti is the primary vector for ZIKV. In this study, we demonstrated vertical transmission in two Ae. aegypti strains from Jiegao (JG) and Mengding (MD) in the border area of Yunnan province. The minimum infection rate of F1 adult progeny from JG Ae. aegypti strain was significantly higher than that of MD Ae. aegypti strain in the second gonotrophic cycle (1:14.29 and 1:200, respectively, p < 0.05). The cytopathic effect was observed in C6/36 cells after infection of ZIKV isolated from the progeny. The results suggest that Ae. aegypti mosquitoes from JG and MD play potential roles in ZIKV spread and maintenance. Therefore, more adult and eggs control methods should be implemented to control mosquitoes if a Zika epidemic occurs.

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