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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 783-786, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365625

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis. RESULTS: The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1. CONCLUSION: Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.


Assuntos
Osso Nasal , Trissomia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética
2.
BMC Med Genomics ; 14(1): 106, 2021 04 14.
Artigo em Inglês | MEDLINE | ID: mdl-33853619

RESUMO

BACKGROUND: Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. METHODS: A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children's Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. RESULTS: Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38-100%), 96.67%(95%CI, 82.78-99.92%), and 100%(95%CI, 66.37-100.00%), and the specificity was 99.92%(95%CI, 99.87-99.96%), 99.96%(95%CI, 99.91-99.98%), and 99.88% (95%CI, 99.82-99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. CONCLUSIONS: Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

3.
Anal Chem ; 93(13): 5621-5628, 2021 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-33764743

RESUMO

Papillary thyroid carcinoma (PTC) is the most common thyroid cancer with high incidence in endocrine tumors, which emphasizes the significance of accurate diagnostics. Still, the commonly used cytological method (fine-needle aspiration (FNA) cytology) and molecular diagnostic methods (such as PCR and sequencing) are limited in terms of diagnostic time, sensitivity, and user-friendliness. In this study, we introduce a novel Zip recombinase polymerase amplification (Z-RPA) strategy to efficiently detect rare mutant alleles in PTC fine-needle aspiration samples, which is sensitive, fast, and simple to manipulate. Using Zip nucleic acid (ZNA) probes to clamp the mutation region, the phi 29 polymerase could selectively displace mismatched ZNA probes and start amplification, while leaving complementary ZNA probes untouched and blocking amplification according to genotype. We demonstrated the good sensitivity and specificity of this strategy with optimized conditions and design, which enabled detection of BRAF V600E mutation in a total 4 ng of genomic DNA within 40 min (≈1 copy). Robust behavior in clinical specimen analysis was also demonstrated. The Z-RPA strategy provides a pragmatic approach to rapidly, sensitively, and easily detect BRAF V600E mutation in clinical fine-needle aspiration samples, which is a promising method for early cancer diagnosis and treatment guideline.


Assuntos
Proteínas Proto-Oncogênicas B-raf , Neoplasias da Glândula Tireoide , Biópsia por Agulha Fina , Análise Mutacional de DNA , Humanos , Mutação , Proteínas Proto-Oncogênicas B-raf/genética , Recombinases/genética , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética
4.
Andrologia ; 53(1): e13867, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33141951

RESUMO

Chromosomal abnormality is a primary genetic factor that lead to azoospermia and male infertility. Here, we report the cases of two brothers with primary infertility, whose chromosomes displayed a balanced translocation, and their karyotypes were 46,Y, t(X; 1) (q28; q21). Both presented an azoospermia phenotype without abnormal clinical symptoms. Their mother's karyotype was 46,X, t(X; 1) (q28; q21), and their father's chromosome karyotype was 46,XY. No abnormal changes were noted in the copy number of chromosome fragments in the whole genome. This study is the first to report showing that 46,Y, t(X; 1) (q28; q21) chromosomal abnormalities are associated with azoospermia.


Assuntos
Azoospermia , Infertilidade Masculina , Azoospermia/genética , Aberrações Cromossômicas , Cromossomos Humanos Y , Humanos , Masculino , Aberrações dos Cromossomos Sexuais , Irmãos
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1172-1175, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924128

RESUMO

OBJECTIVE: To explore the nature of chromosomal abnormality in a fetus with nasal bone dysplasia and clarify its clinical effect. METHODS: Fetal chromosome karyotype was analyzed by G-banding. Single nucleotide polymorphism array (SNP-array) was used to detect the chromosomal copy number variations, and fluorescence in situ hybridization (FISH) was used to verify the result. RESULTS: Fetal karyotype analysis showed an unknown chromosomal fragment in 21q21 region. SNP-array discovered a 7.5 Mb duplication in the 21q22.12q22.3 region. FISH confirmed that the unknown fragment was derived from a 21q22.12q22.3 duplication. CONCLUSION: Combined use of karyotype analysis, SNP-array and FISH has clarified the nature of chromosomal abnormality in a fetus with nasal bone dysplasia, which has enabled more accurate prenatal diagnosis and genetic counseling.


Assuntos
Doenças do Desenvolvimento Ósseo/genética , Diagnóstico Pré-Natal , Trissomia , Doenças do Desenvolvimento Ósseo/diagnóstico , Cromossomos Humanos Par 21 , Variações do Número de Cópias de DNA , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Gravidez , Trissomia/diagnóstico , Trissomia/genética
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(9): 1036-1038, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-32820525

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the diagnoses. Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis. RESULTS: Both fetuses showed a 46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in fetus 2. The results were confirmed by FISH. The parents of both fetuses were normal by chromosomal karyotyping and SNP-array. CONCLUSION: Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.


Assuntos
Mosaicismo , Diagnóstico Pré-Natal , Cromossomos Humanos Y , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Gravidez
7.
Andrologia ; 52(6): e13602, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32352591

RESUMO

Sex chromosome abnormality (SCA) is one of the major causes of male spermatogenesis dysfunction. In our study, we sought to investigate the novel X chromosome inversion leading to severe oligozoospermia. Here, we report two brothers with severe oligozoospermia without any other abnormal clinical phenotype. The chromosome karyotypes in peripheral blood of both brothers were 46, Y, inv (X) (p22.3, q22), and no Y chromosome microdeletion was found. The karyotype of their mother was 46, X, inv (X) (p22.3, q22) and that of their father was 46, XY. This is the first report in China that X chromosomal inversion, 46, Y, inv (X) (p22.3, q22), is associated with severe oligozoospermia. This inversion may be a direct genetic risk factor for spermatogenesis.


Assuntos
Inversão Cromossômica/genética , Cromossomos Humanos X/genética , Oligospermia/genética , Linhagem , Adulto , Fertilização In Vitro , Humanos , Cariótipo , Masculino , Herança Materna , Análise do Sêmen , Aberrações dos Cromossomos Sexuais , Irmãos , Injeções de Esperma Intracitoplásmicas
8.
J Mol Diagn ; 22(4): 523-531, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32279948

RESUMO

Recurrent pregnancy loss (RPL) occurs in approximately 5% of clinically identified pregnancies. Determining the cause of RPL is essential. Genetic testing, accompanied by an evidence-based workup, is the well-accepted process for evaluating RPL; however, current genetic tests have limitations in clinical practice. We, thus, developed a high-resolution melting analysis-based test (HRM test) to screen for the most common numerical chromosomal abnormalities present in the products of conception. We examined 765 products-of-conception samples with known karyotypes retrospectively using the HRM test, which showed high technical sensitivity (96.1%) and specificity (96.3%) as well as a high positive predictive value (95.9%) for the screening of chromosomal abnormalities. The cost-effectiveness of four RPL evaluation strategies that employ different genetic tests, karyotyping, chromosomal microarray/next-generation sequencing, the HRM test, and a combination of the HRM test and chromosomal microarray/next-generation sequencing, was then compared. The costs of diagnosing an explained RPL using karyotyping or the HRM test alone were similar. Performance of the HRM screening test before chromosomal microarray/next-generation sequencing analysis improved cost-effectiveness by approximately 30%. Cost-effectiveness was more prominent in the advanced maternal age group. Thus, the HRM test could be used as an initial screening tool, followed by other diagnostic methods to improve the cost-effectiveness of RPL evaluation, or as an alternative genetic test when other methods are unavailable or unaffordable.


Assuntos
Aborto Habitual/diagnóstico , Aborto Habitual/genética , Aberrações Cromossômicas , Testes Genéticos , Adulto , Análise Custo-Benefício , Análise de Dados , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Testes Genéticos/normas , Humanos , Cariotipagem , Reação em Cadeia da Polimerase , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(4): 405-409, 2020 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-32219823

RESUMO

OBJECTIVE: To carry out genetic testing for 3 fetuses with abnormal prenatal screening. METHODS: Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed. RESULTS: Abnormalities of chromosome 22 were found with all 3 fetuses. Fetus 1 harbored a 7.1 Mb deletion in 22q13.2q13.33 region, which involved 54 OMIM genes including SHANK3 and FBLN1. Fetus 2 had a mosaicism karyotype, with 12% of cells harboring a 6.6 Mb deletion in 22q13.31q13.33, covering 48 OMIM genes such as SHANK3 and PPARA, and 5% of cells harboring a 26.1 Mb duplication in 22q11.1q13.2 involving 285 OMIM genes. Fetus 3 carried a tandem duplication of 1.7 Mb in 22q11.1q11.21, which involved 10 OMIM genes including CECR1, CECR2 and ATP6V1E1. No abnormality was found in the three couples by chromosomal karyotyping and SNP array analysis. CONCLUSION: The severity of diseases caused by chromosome 22 abnormalities not only depends on the range of the deletion or duplication, but is also closely related to chromosome structure, gene dose and genetic environment. Combined ultrasonography and various genetic testing techniques in prenatal diagnosis can greatly increase the detection rate of genetic diseases with substantial phenotypic variation.


Assuntos
Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22/genética , Testes Genéticos , Cariotipagem , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Aberrações Cromossômicas , Deleção Cromossômica , Transtornos Cromossômicos/genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Gravidez , Fatores de Transcrição
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(12): 1222-1225, 2019 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-31813153

RESUMO

OBJECTIVE: To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins. METHODS: G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs. RESULTS: The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH. CONCLUSION: A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.


Assuntos
Aberrações Cromossômicas , Diagnóstico Pré-Natal , Bandeamento Cromossômico , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
11.
J Hum Genet ; 64(5): 387-396, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30765868

RESUMO

Carrier screening of spinal muscular atrophy (SMA) can provide reproductive options for carriers and prevent the birth defects. Here, we developed a simple screening test based on melting analysis. The test comprises a duplex PCR with two primer pairs and three probes to simultaneous amplify SMN1, SMN2, and CFTR. By analyzing the melting profiles, we were able to determine the SMN1/SMN2 ratio and SMN1 + SMN2 copy number to subsequently determine the copy number of SMN1. Samples with one copy of SMN1 were considered as "high risk for carrier," while samples with ≥2 copies of SMN1 were considered as "low risk for carrier." We evaluated the clinical performance of this test using 215 clinical samples with various genotypes that had been previously confirmed by multiplex ligation-dependent probe amplification (MLPA). The test showed high sensitivity (100%) and specificity (97.1%) as well as high positive (97.3%) and negative (100%) predictive value, and was in perfect agreement with the gold standard test, MLPA (k = 0.97). Moreover, it is rapid, inexpensive, and easy to perform and automate, with high reproducibility and capacity. Therefore, we expect this test will advance carrier screening for SMA.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Triagem de Portadores Genéticos , Atrofia Muscular Espinal/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Sondas de DNA/genética , Feminino , Humanos , Masculino , Desnaturação de Ácido Nucleico , Reação em Cadeia da Polimerase , Sensibilidade e Especificidade , Proteína 2 de Sobrevivência do Neurônio Motor/genética
12.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(2): 272-275, 2018 Apr 10.
Artigo em Chinês | MEDLINE | ID: mdl-29653009

RESUMO

OBJECTIVE: To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice. METHODS: Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid. RESULTS: The karyotype of the amniocytes was 47, XX, +mar. The marker chromosome was further identified as psu idic (22) (q11.2) by SNP-array analysis, revealing tetraploidy of a 1.7 Mb fragment in 22q11.1-q11.2 interval that involves the critical region for Cat eye syndrome. CONCLUSION: A rare chromosomal abnormality was identified by combining conventional G banding and SNP-array. The high resolution SNP-array could provide more detailed information for determining the origin of chromosomal abnormalities.


Assuntos
Líquido Amniótico/citologia , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 22 , Anormalidades do Olho/genética , Isocromossomos , Tetraploidia , Adulto , Aneuploidia , Cromossomos Humanos Par 22/genética , Feminino , Humanos , Cariotipagem , Polimorfismo de Nucleotídeo Único , Gravidez
13.
Gene ; 663: 126-130, 2018 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-29684482

RESUMO

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


Assuntos
Cromossomos/genética , Cariotipagem/métodos , Oligospermia/genética , Translocação Genética , Adulto , Humanos , Hibridização in Situ Fluorescente/métodos , Masculino , Oligospermia/complicações , Esquizofrenia/genética
15.
J Mater Chem B ; 4(37): 6271-6278, 2016 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-32263639

RESUMO

Effective in vivo fluorescence imaging for cancer screening and diagnostics requires bright and biocompatible fluorophores whose emission can effectively penetrate biological tissues. Recent studies have confirmed that the second near-infrared window (NIR-II, 1000-1400 nm) is the most sensitive spectral range for in vivo imaging due to ultralow tissue absorption and autofluorescence. We report herein a facile synthesis of Ag2S quantum dots (QDs) that emit at ∼1100 nm using ß-lactoglobulin (ß-LG) as a biological template. The ß-LG protein coating improves water-solubility, faciliates rapid biodistribution and reduces in vivo toxicity of the QDs. Compared to other currently used NIR emitters, ß-LG capped Ag2S QDs exhibit superior photostability and biocompatibility, making them promising probes for in vivo NIR-II imaging.

16.
Reprod Biol ; 15(2): 113-21, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26051460

RESUMO

We developed a quadruplex real-time PCR assay that allows rapid and simultaneous detection of 47,XXY and azoospermia factor (AZF) microdeletions on Y chromosome. The quadruplex assay consisted of four hydrolysis probes and primer sets. Three probes and the corresponding primers were used to qualitatively detect AZFa, AZFb, and AZFc deletions. For the detection of 47,XXY, the hydrolysis probe-mediated melting analysis was conducted to analyze the relative amounts of X and Y chromosomes. The quadruplex assay for detecting 47,XXY was characterized by very high analytical specificity (100%) in a wide template DNA range (2-100 ng). The detection limit of the assay was 2 ng of genomic DNA, and the optimal template DNA amount for the detection of 47,XXY was 25 ng. The quadruplex assay for detecting 47,XXY and AZF microdeletions has also demonstrated very high diagnostic sensitivity and specificity (100%). The assay was found to be rapid, sensitive, reliable, and inexpensive. This method is suggested to be applied as a first-step tool in genetic screening of patients with non-obstructive azoospermia and severe oligospermia.


Assuntos
Testes Genéticos/métodos , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Automação Laboratorial , Azoospermia/etiologia , China , Deleção Cromossômica , Cromossomos Humanos Y/genética , Cromossomos Humanos Y/metabolismo , Humanos , Infertilidade Masculina , Limite de Detecção , Masculino , Reação em Cadeia da Polimerase Multiplex , Oligospermia/etiologia , Reação em Cadeia da Polimerase em Tempo Real , Reprodutibilidade dos Testes , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sensibilidade e Especificidade , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/metabolismo , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/fisiopatologia
17.
Biotechnol Lett ; 36(5): 1079-88, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24557075

RESUMO

To enhance graft ligamentization after anterior cruciate ligament (ACL) reconstruction, human fibronectin (FN) was coated on polyethylene terephthalate (PET) ligaments by spray painting. The FN-coated PET ligaments were investigated in vitro using rat mesenchymal stromal cells (MSCs). MSCs cultured on FN-coated grafts resulted in similar cell densities and amounts of proliferating cells with control grafts without coating. The FN-coated group not only gave rise to MSC-derived collagen-like tissues but also enhanced the expression of collagen-I gene. Furthermore, rat ACL reconstruction models were used to evaluate the effect of the FN coating in vivo. The FN coating significantly promoted new ligament tissue regeneration into the graft fibers. In conclusion, sprayed FN coating had a positive effect to enhance graft ligamentization of PET artificial ligament.


Assuntos
Materiais Revestidos Biocompatíveis/farmacologia , Fibronectinas/farmacologia , Regeneração Tecidual Guiada/instrumentação , Polietilenotereftalatos/farmacologia , Cicatrização/efeitos dos fármacos , Animais , Materiais Revestidos Biocompatíveis/química , Fibronectinas/química , Regeneração Tecidual Guiada/métodos , Humanos , Ligamentos/química , Ligamentos/fisiologia , Masculino , Teste de Materiais , Polietilenotereftalatos/química , Ratos
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 415-9, 2013 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-23926007

RESUMO

OBJECTIVE: To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes. METHODS: Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding, Q-banding, multiplex FISH and BAC-FISH. RESULTS: The marker chromosomes in the 16 patients were verified as der(Y) (2 cases), psu dic(Y) (1 case), psu dic(15) (1 case), dic(15) (1 case), del(Y) (1 case), r(X) (5 cases), i(14 or 22) (2 cases), i(18) (1 case). CONCLUSION: FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.


Assuntos
Aberrações Cromossômicas , Doenças Genéticas Inatas/genética , Marcadores Genéticos/genética , Hibridização in Situ Fluorescente/métodos , Adolescente , Adulto , Criança , Feminino , Doenças Genéticas Inatas/diagnóstico , Humanos , Masculino , Adulto Jovem
19.
J Biomater Sci Polym Ed ; 24(4): 431-46, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23565685

RESUMO

The ideal artificial ligament graft should have favorable biocompatibility to facilitate cell adhesion, proliferation, and collagen regeneration. In this present study, surface modification was performed on a poly(ethylene terephthalate) (PET) artificial ligament graft by layer-by-layer (LBL) self-assembly coating of hyaluronic acid (HA) and chitosan (CS). The surface characterization of the ligament was examined using scanning electron microscopy, atomic force microscopy, and energy-dispersive X-ray spectroscopy. The results of in vitro culturing of human foreskin fibroblast cells supported the hypothesis that the LBL coating of CS-HA could promote the cell proliferation and adhesion on the sheets. A rabbit medical collateral ligament reconstruction model was used to evaluate the effect of this LBL coating in vivo. The final results proved that this LBL coating could significantly promote and enhance new collagen formation among the graft fibers. On the basis of these results, we conclude that such CS-HA assembly coating could enhance PET graft biocompatibility in vitro and in vivo, and a CS-HA-coated PET graft has considerable potential as a desirable substitute for ligament reconstruction.


Assuntos
Quitosana/química , Materiais Revestidos Biocompatíveis/química , Colágeno/metabolismo , Ligamentos Colaterais/cirurgia , Ácido Hialurônico/química , Polietilenotereftalatos/química , Animais , Linhagem Celular , Proliferação de Células , Fibroblastos/citologia , Humanos , Masculino , Coelhos , Procedimentos Cirúrgicos Reconstrutivos , Propriedades de Superfície
20.
Fetal Pediatr Pathol ; 32(3): 163-8, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22607389

RESUMO

The objective of this study was to investigate, retrospectively, the frequencies of fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at the Xiamen Maternity and Child Health Care Hospital over the 5-year period from October 2005 to September 2010. The frequency of abnormal fetal karyotypes was 4.6%. Numerical chromosome abnormalities were identified in 150 cases. The frequency of trisomy 21 was by far the highest, followed by trisomy 18. Structural aberrations of chromosomes were identified in 43 cases, including 21 cases with balanced and 22 cases with unbalanced chromosomal aberrations. In addition, 16 cases of apparently de novo chromosomal aberrations and 27 cases of familial inheritances were observed. Increased awareness of the frequencies of fetal chromosome abnormalities is important for the improvement of prenatal care and providing the options of termination or continuation of the pregnancy. Data obtained in this study provide the basis of a database for genetic counseling.


Assuntos
Cariótipo Anormal , Aberrações Cromossômicas , Transtornos Cromossômicos/epidemiologia , Diagnóstico Pré-Natal , Cariótipo Anormal/estatística & dados numéricos , Adulto , China/epidemiologia , Aberrações Cromossômicas/estatística & dados numéricos , Análise Citogenética , Síndrome de Down/epidemiologia , Feminino , Aconselhamento Genético , Humanos , Gravidez , Estudos Retrospectivos
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