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1.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(8): 814-820, 2021 Aug 15.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34511171

RESUMO

OBJECTIVES: To study the survival rate and the incidence of complications of very preterm infants and the factors influencing the survival rate and the incidence of complications. METHODS: The medical data of the very preterm infants with a gestational age of <32 weeks and who were admitted to the Department of Neonatology in 11 hospitals of Jiangsu Province in China from January 2018 to December 2019 were retrospectively reviewed. Their survival rate and the incidence of serious complications were analyzed. A multivariate logistic regression analysis was used to evaluate the risk factors for death and serious complications in very preterm infants. RESULTS: A total of 2 339 very preterm infants were enrolled, among whom 2 010 (85.93%) survived and 1 507 (64.43%) survived without serious complications. The groups with a gestational age of 22-25+6 weeks, 26-26+6 weeks, 27-27+6 weeks, 28-28+6 weeks, 29-29+6 weeks, 30-30+6 weeks, and 31-31+6 weeks had a survival rate of 32.5%, 60.6%, 68.0%, 82.9%, 90.1%, 92.3%, and 94.8% respectively. The survival rate tended to increase with the gestational age (P<0.05) and the survival rate without serious complications in each gestational age group was 7.5%, 18.1%, 34.5%, 52.2%, 66.7%, 75.7%, and 81.8% respectively, suggesting that the survival rate without serious complications increased with the gestational age (P<0.05). The multivariate logistic regression analysis showed that high gestational age, high birth weight, and prenatal use of glucocorticoids were protective factors against death in very preterm infants (P<0.05), and 1-minute Apgar score ≤3 was a risk factor for death in very preterm infants (P<0.05); high gestational age and high birth weight were protective factors against serious complications in very preterm infants who survived (P<0.05), while 5-minute Apgar score ≤3 and maternal chorioamnionitis were risk factors for serious complications in very preterm infants who survived (P<0.05). CONCLUSIONS: The survival rate is closely associated with gestational age in very preterm infants. A low 1-minute Apgar score (≤3) may increase the risk of death in very preterm infants, while high gestational age, high birth weight, and prenatal use of glucocorticoids are associated with the reduced risk of death. A low 5-minute Apgar score (≤3) and maternal chorioamnionitis may increase the risk of serious complications in these infants, while high gestational age and high birth weight may reduce the risk of serious complications.


Assuntos
Doenças do Prematuro , Recém-Nascido Prematuro , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Gravidez , Estudos Retrospectivos , Taxa de Sobrevida
2.
Oral Oncol ; : 105459, 2021 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-34340943

RESUMO

Lymphatic malformation is a benign lesion, seldom affecting the gingiva. Gingival lesions are characterized by pebbly hyperplasia, occasional pain, and bleeding. The treatment for large and exceptional areas of involvement may face difficulties. Herein we report a rare case of gingival lymphatic malformation in a 10-year-old girl.

3.
J Clin Microbiol ; 59(8): e0007921, 2021 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-33952598

RESUMO

While China experienced a peak and decline in coronavirus disease 2019 (COVID-19) cases at the start of 2020, regional outbreaks continuously emerged in subsequent months. Resurgences of COVID-19 have also been observed in many other countries. In Guangzhou, China, a small outbreak, involving less than 100 residents, emerged in March and April 2020, and comprehensive and near-real-time genomic surveillance of SARS-CoV-2 was conducted. When the numbers of confirmed cases among overseas travelers increased, public health measures were enhanced by shifting from self-quarantine to central quarantine and SARS-CoV-2 testing for all overseas travelers. In an analysis of 109 imported cases, we found diverse viral variants distributed in the global viral phylogeny, which were frequently shared within households but not among passengers on the same flight. In contrast to the viral diversity of imported cases, local transmission was predominately attributed to two specific variants imported from Africa, including local cases that reported no direct or indirect contact with imported cases. The introduction events of the virus were identified or deduced before the enhanced measures were taken. These results show the interventions were effective in containing the spread of SARS-CoV-2, and they rule out the possibility of cryptic transmission of viral variants from the first wave in January and February 2020. Our study provides evidence and emphasizes the importance of controls for overseas travelers in the context of the pandemic and exemplifies how viral genomic data can facilitate COVID-19 surveillance and inform public health mitigation strategies.


Assuntos
COVID-19 , SARS-CoV-2 , África , Teste para COVID-19 , China/epidemiologia , Genômica , Humanos
4.
J Clin Lab Anal ; 34(12): e23511, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32862489

RESUMO

BACKGROUND: Circulating microRNAs that post-transcriptionally regulate gene expressions have been reported as promising biomarkers in cancer monitoring. This study was to identify the potential role of circulating miR-212 in gastric cancer and whether it could serve as a novel biomarker for gastric cancer. METHODS: We detected the serum levels of miR-212 in 100 health people and 110 gastric cancer patients and analyzed the relationships of the serum level of miR-212 with gastric cancer. We detected the expression of miR-212 in human gastric mucosal epithelial cell line (GES-1) and human gastric cancer cell lines (NCI-N87 and SNU-16) using qRT-PCR. Then, we detected the role of 5-aza-deoxycytidine on the epigenetic regulation of miR-212 in human gastric cancer cell lines. Furthermore, luciferase reporter assay was used to detect binding activity of miR-212 on SOX4 mRNA, and their functions on the cell proliferation and apoptosis. RESULTS: The expression of miR-212 was higher in health people than that in gastric cancer patients, higher in gastric mucosal epithelial cell line than that in gastric cancer cells. miR-212 can be a circulating biomarker and an independent prognostic factor of gastric cancer. Moreover, miR-212 can directly regulate the 3'UTR of SOX4 mRNA to suppress p53 and Bax, resulting gastric cancer cells proliferation inhibition and apoptosis induction. CONCLUSION: Our study demonstrated that miR-212 was epigenetically downregulated in gastric cancer, and resulting low level of miR-212 can be a potential circulating biomarker and poor prognosis predicator of gastric cancer.

6.
Zhongguo Zhong Yao Za Zhi ; 45(24): 6043-6052, 2020 Dec.
Artigo em Chinês | MEDLINE | ID: mdl-33496146

RESUMO

To systematically evaluate the efficacy of traditional Chinese medicine(TCM) compounds combined with levodopa medicine in the treatment of Parkinson's disease(PD), and screen basic herbs to provide certain evidence-based medical proof and program for better guidance on clinical drug use. Six databases were searched to screen out the randomized controlled trial on the TCM compounds combined with levodopa medicine in the treatment of PD. Literature quality of the included studies was evaluated by improved Jadad rating scale, and the Meta-analysis was performed by RevMan 5.3 software. After the data of the basic TCM compounds involved were sorted out, the strong association rules were found by using Apriori algorithm of SPSS Modeler 18.0 software, and then the basic herbs for the treatment of PD could be picked out. A total of 20 studies were eventually included, involving 1 784 patients. Ten studies were of high-quality literature, Jadad score≥4 points. Meta-analysis showed that efficacy of TCM combined with levodopa medicine was better than levodopa medicine alone in lowering Unified Parkinson's Disease Rating Scale(UPDRS) score: UPDRS Ⅰ(MD=-0.43, 95%CI[-0.62,-0.24], P<0.000 1), UPDRS Ⅱ(MD=-2.72, 95%CI[-3.24,-2.21], P<0.000 01), UPDRS Ⅲ(MD =-1.97, 95%CI[-2.69,-1.25], P<0.000 01), UPDRS Ⅳ(MD=-0.28, 95%CI[-0.46,-0.11], P=0.002). And the improvement in UPDRS score reduction rate of TCM combined with levodopa medicine was better than that in levodopa medicine alone: effective rate(OR=4.81, 95%CI[3.50, 6.62], P<0.000 01). Data mining results showed that the basic prescription for treating PD consisted of Paeoniae Radix Alba-Rehmanniae Radix Praeparata-Gastrodiae Rhizoma in general. According to each part of UPDRS, the basic prescription for treating mentation, behavior and mood(UPDRS Ⅰ) consists of Paeoniae Radix Alba-Rehmanniae Radix Praeparata-Glycyrrhizae Radix et Rhizoma Praeparata Cum Melle, Among which Glycyrrhizae Radix et Rhizoma Praeparata Cum Melle might have unique efficacy. The basic prescriptions for treating UPDRS Ⅱ and UPDRS Ⅲ consisted of Paeoniae Radix Alba-Rehmanniae Radix Praeparata, or Chuanxiong Rhizoma-Angelicae Sinensis Radix(two drug combinations). However, in the treatment of UPDRS Ⅳ, the drugs were scattered. But due to the limitations in the quantity and quality of clinical studies, the results obtained still need further research and clinical confirmation of its efficacy.


Assuntos
Medicamentos de Ervas Chinesas , Medicina , Doença de Parkinson , China , Humanos , Levodopa , Medicina Tradicional Chinesa
7.
Zhongguo Zhong Yao Za Zhi ; 44(4): 827-832, 2019 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-30989898

RESUMO

This study based on~1H-NMR urine metabolomics technique combined with biochemical indicators to focus on studying the acute hepatotoxicity mechanism of Artemisia argyi essential oil( AAEO). In order to further explore the acute hepatotoxicity mechanism of AAEO,the researchers collected the urine nuclear magnetic data of rats in different periods of high and low doses of olive oil and AAEO group. Using the principal component analysis( PCA) and orthogonal partial least squares-discrimination analysis( OPLSDA) to analyze the endogenous small molecule metabolites in rat urine to study the effects of AAEO on the metabolic process of normal rats. The results showed there was a significant difference between the olive oil group and the AAEO group,the PCA scores chart demonstrated that there was no obvious separation tendency in the urine of olive oil group rats 0-6,6-12,12-24 h,and the metabolic components were distributed in aggregation pattern. The urinary metabolic trajectory of the rats in the AAEO group was conspicuously separated at 0-6,6-12,12-24 h. The experiments proved that the analysis of metabolites by~1H-NMR found that AAEO caused metabolic disorders in rats and produced acute hepatotoxicity. After metabolite differential comparison,it was speculated that the mechanism of acute hepatotoxicity may be involved in the tricarboxylic acid cycle and energy metabolism,while the citrate and oleanolic acid would be the potential biomarkers. This study discussed that the acute hepatotoxicity mechanism of AAEO was used to provide the experimental data for the clinical prescription of Artemisia argyi.


Assuntos
Artemisia , Doença Hepática Induzida por Substâncias e Drogas , Animais , Metabolômica , Óleos Voláteis , Espectroscopia de Prótons por Ressonância Magnética , Ratos
9.
Am J Dermatopathol ; 41(1): 7-15, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30085959

RESUMO

BACKGROUND: Hydroa vacciniforme-like lymphoproliferative disorder (HVLPD) is a rare Epstein-Barr virus (EBV)-associated lymphoma that mainly affects children. OBJECTIVES: To examine the similarities and differences in the clinical pathological features, EBV infection status, and gene rearrangements in adults and children patients with HVLPD. METHODS: We compared the clinical manifestations, histopathology, immunophenotypical features, EBV infection status, and T-cell receptor gene rearrangements in the adult and children HVLPD groups. RESULTS: Clinical manifestations differed between children and adults groups. The children were characterized by blisters and severe facial swelling, whereas the adults were characterized by mild facial swelling and papules. Mosquito bite was significantly related to morbidity in the children group. Histologically, the number of mast cells in the adult group was greater than in the children group (P < 0.05). There were no significant differences in EBV infection status or TCR-γ gene rearrangements between 2 groups. CONCLUSIONS: There were differences in clinical pathology and prognosis between the 2 groups. A higher mast cell count and T-cell phenotype might be associated with a poor prognosis.


Assuntos
Infecções por Vírus Epstein-Barr/diagnóstico , Dermatoses Faciais/diagnóstico , Rearranjo Gênico da Cadeia gama dos Receptores de Antígenos dos Linfócitos T , Genes Codificadores da Cadeia gama de Receptores de Linfócitos T , Herpesvirus Humano 4/isolamento & purificação , Hidroa Vaciniforme/diagnóstico , Linfoma/diagnóstico , Pele , Adolescente , Adulto , Fatores Etários , Criança , Infecções por Vírus Epstein-Barr/genética , Infecções por Vírus Epstein-Barr/imunologia , Infecções por Vírus Epstein-Barr/virologia , Dermatoses Faciais/genética , Dermatoses Faciais/imunologia , Dermatoses Faciais/virologia , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Hidroa Vaciniforme/genética , Hidroa Vaciniforme/imunologia , Hidroa Vaciniforme/virologia , Imuno-Histoquímica , Imunofenotipagem/métodos , Hibridização in Situ Fluorescente , Linfoma/genética , Linfoma/imunologia , Linfoma/virologia , Masculino , Mastócitos/imunologia , Mastócitos/patologia , Mastócitos/virologia , Pessoa de Meia-Idade , Fenótipo , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Fatores de Risco , Pele/imunologia , Pele/patologia , Pele/virologia , Adulto Jovem
10.
Cytogenet Genome Res ; 154(1): 12-19, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29510377

RESUMO

miR-519d inhibits cell growth, migration, and invasion, but its role in gastric cancer (GC) cells is obscure. We showed that miR-519d-3p was lowly expressed in GC tissues and was associated with the clinical stage and lymph node metastasis of GC tissues. We found that miR-519d-3p repressed cell proliferation and invasion of MGC803 cells and delayed the G1/S phase transition, resulting in decreased cyclin B1 and MMP2 and increased E-cadherin levels. Furthermore, miR-519d-3p targeted and downregulated B-cell lymphoma 6 (BCL6) expression. BCL6 overexpression partially abrogated the suppressive function of miR-519d in MGC803 cells. In conclusion, our study demonstrated that miR-519d-3p functions as a tumor suppressor by targeting and downregulating the expression of BCL6 in GC cells.


Assuntos
Regulação para Baixo , MicroRNAs/genética , Proteínas Proto-Oncogênicas c-bcl-6/genética , Neoplasias Gástricas/genética , Regiões 3' não Traduzidas , Linhagem Celular Tumoral , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Humanos , Linfonodos , Invasividade Neoplásica , Estadiamento de Neoplasias , Neoplasias Gástricas/patologia
11.
J Cell Biochem ; 119(4): 3317-3325, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29125888

RESUMO

Emerging studies have shown that circular RNAs could be ideal biomarkers and even potential therapeutic targets for some tumors, including bladder cancer. However, only a few studies have investigated the circular RNAs in human bladder cancer. The key circular RNA molecules are closely related to bladder cancer and their roles remain largely unknown. Here, we investigated a novel circular RNA molecule, hsa-circ-0003221(circPTK2), which is differentially expressed in bladder carcinoma. Significant differential expression levels of circPTK2 were confirmed with quantitative PCR in 40 pairs of tissue and blood samples from patients with bladder carcinoma. Moreover, circPTK2 levels both in tissue and blood were significantly correlated with several clinicopathologic characteristics, including poor differentiation (P = 0.0103 in tissue, P = 0.024 in blood), N2-N3 lymph node metastasis (P = 0.0065 in tissue, P = 0.016 in blood), and T(II-III-IV) stage (P = 0.008 in tissue, P = 0.0003 in blood). Quantitative PCR results confirmed that circPTK2 is highly expressed in migrated cells separated by Transwell assay and in metastatic lymph nodes of tumors transplanted in nude mice. In vitro silence of circPTK2 by small interfering RNA inhibited the proliferation and migration of bladder cancer cells. On the contrary, circPTK2 overexpression promoted proliferation and migration. This study showed that circPTK2 promotes proliferation and migration of cells and may be a novel potential biomarker and therapeutic target for bladder cancer diagnosis and therapy.


Assuntos
RNA/genética , Regulação para Cima , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/patologia , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Metástase Linfática , Masculino , Estadiamento de Neoplasias , RNA Circular
12.
Nanomaterials (Basel) ; 7(10)2017 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-28946664

RESUMO

Hexagonally ordered arrays of polystyrene (PS) microspheres were prepared by a modified air-water self-assembly method. A detailed analysis of the air-water interface self-assembly process was conducted. Several parameters affect the quality of the monolayer colloidal crystals, i.e., the colloidal microsphere concentration on the latex, the surfactant concentration, the polystyrene microsphere diameter, the microsphere polydispersity, and the degree of sphericity of polystyrene microspheres. An abrupt change in surface tension was used to improve the quality of the monolayer colloidal crystal. Three typical microstructures, i.e., a cone, a pillar, and a binary structure were prepared by reactive-ion etching using a high-quality colloidal crystal mask. This study provides insight into the production of microsphere templates with flexible structures for large-area patterned materials.

15.
Australas J Dermatol ; 58(3): e126-e128, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27283080

RESUMO

We describe a 28-year-old man with linear atrophoderma of Moulin (LAM), whose serum immunological markers were abnormal (including antinuclear antibody, ribonucleoprotein, immunoglobulin M and anti-SM antibody). In addition, however, a histological analysis identified unexpected connective tissue disease changes in this patient. We speculate that the pathogenesis of LAM is associated with immunity or that LAM itself is a kind of connective tissue disease.


Assuntos
Hiperpigmentação/imunologia , Pele/patologia , Adulto , Anticorpos Antinucleares/sangue , Atrofia/imunologia , Atrofia/patologia , Doenças do Tecido Conjuntivo/patologia , Humanos , Hiperpigmentação/sangue , Hiperpigmentação/patologia , Imunoglobulina M/sangue , Masculino , Proteínas Centrais de snRNP/imunologia
16.
Chin J Integr Med ; 23(5): 331-337, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-26142337

RESUMO

OBJECTIVE: To investigate the adjuvant therapeutic effects of fermented red ginseng (FRG) extract on non-small cell lung cancer (NSCLC) patients treated with chemotherapy. METHODS: A total of 60 patients with advanced NSCLC were divided into two groups using a random number table, i.e., the gemcitabine plus cisplatin (GP) chemotherapy alone group (26 patients) and the FRG + GP chemotherapy group (34 patients), for 60-day treatment. Patients were then assessed according to the Fatigue Symptom Inventory, Chinese medicine symptoms score, Self-Rating Anxiety Scale, Self-Rating Depression Scale, Karnofsky Performance Status Scale, and Functional Assessment of Cancer Therapy-Lung. In addition, chemotherapy toxicity and tumor biomarkers were measured. RESULTS: For NSCLC patients after chemotherapy, FRG extract significantly improved the FSI score, CM symptoms score, psychological status, physical conditions, and quality of life and reduced chemotherapy toxicity, but the expression levels of carcinoembryonic antigen, cytokeratin-19 fragments, and neuron-specific enolase were not significantly different between the chemotherapy alone and the FRG + chemotherapy groups or between pre- and post-treatments. CONCLUSIONS: This study demonstrated that FRG extract had an adjuvant effect on advanced NSCLC patients treated with chemotherapy. Further studies with a larger sample size will verify the current findings.


Assuntos
Adjuvantes Farmacêuticos/uso terapêutico , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/patologia , Fermentação , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Extratos Vegetais/uso terapêutico , Adjuvantes Farmacêuticos/efeitos adversos , Adulto , Idoso , Biomarcadores Tumorais/metabolismo , Carcinoma Pulmonar de Células não Pequenas/psicologia , Feminino , Humanos , Neoplasias Pulmonares/psicologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Panax , Extratos Vegetais/efeitos adversos , Qualidade de Vida , Inquéritos e Questionários
17.
Huan Jing Ke Xue ; 38(3): 946-953, 2017 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-29965564

RESUMO

Three Gorge Dam Reservoir (TGDR) is a new forming ecosystem and its sediments dynamics remains unknown. Investigation on the nitrification and denitrification dynamics of sediments of TGDR during water collection and release events-anti-seasonal actions-is critical for nitrogen management in TGDR. In this study, we sampled sediments in three locations (upstream, center, and downstream along water flow) of South River, located in a typical small tributary, Nanhe, in TGDR during 2015 water collection and release events to characterize its physiochemical property and determine its nitrification and denitrification rates using acetylene inhabitation method. The results showed that the concentrations of physiochemical parameters of sediments (total carbon, total nitrogen, nitrate, and ammonia) were significantly higher (P<0.05) in water collection event than those in water release event, suggesting there were external materials (e. g., soil) entering into TGDR. Furthermore, the nitrification rate of sediments in water collection event[194.06 µmol·(m2·h)-1] was significantly higher than that in water release event[16.52 µmol·(m2·h)-1]. Sediments nitrification rate was positively correlated to the physiochemical parameters. In contract, the denitrification rate of sediments was higher in water release event[647.20 µmol·(m2·h)-1] than that in water collection event[24.04 µmol·(m2·h)-1). Accordingly, the denitrification rate of sediments was negatively correlated to the physiochemical parameters.


Assuntos
Desnitrificação , Sedimentos Geológicos/química , Nitrificação , China , Nitratos/análise , Nitrogênio/análise , Rios/química
18.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(4): 2379-80, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-25962483

RESUMO

Astatotilapia burtoni is a species of fish in the Cichlidae family. Astatotilapia burtoni has been used as a model organism to research the behaviors and physical systems of cichlids. Here, we reported the complete mitogenome sequence of A. burtoni, which was 16,583 bp and composed of 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes and 1 control region, with a base composition of lower G + C content (45.5%). Similar to Astatotilapia calliptera, all genes were located on H-strand except for eight tRNAs and ND6 genes. Most protein-coding genes started with an ATG codon except for COX1, ATP6 and ND3, which initiated with GTG or ATC instead, and terminated with the typical stop condon (TAA/TAG)or a single T. In this article, 12 protein-coding genes of other 10 closely species were used to construct the species phylogenetic tree to convince the mitogenome sequences. These results provided basic information for researching A. burtoni on genetics, phylogeny and adaptive evolution.


Assuntos
Peixes/classificação , Peixes/genética , Genoma Mitocondrial , Animais , Composição de Bases , Genes Mitocondriais , Tamanho do Genoma , Fases de Leitura Aberta , Filogenia , Análise de Sequência de DNA , Sequenciamento Completo do Genoma
19.
Chin J Integr Med ; 21(11): 817-22, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25864118

RESUMO

OBJECTIVE: To screen out blood-stasis syndrome (BSS)-associated microRNA and therefore determine the possible target for treating hypertension. METHODS: A high-energy sequencing method and digital gene expression sequencing theory were adopted to sequence microRNA (miRNA) and messenger RNA (mRNA), and to determine differential expression in human umbilical vein endothelial cells incubated with serum samples from hypertension patients with or without BSS, and healthy controls. The results were confirmed using gene prediction software. RESULTS: A total of 13 miRNAs and 11 mRNAs showed statistical difference both in the BSS/normal groups and BSS/non-BSS groups, respectively. Four pairs of target mRNA/miRNA were identified: FRMD4A/hsa-miR-34a, MAP3K14/hsa-miR-34a, PER1/hsa-miR-34a, and FGF2/hsa-miR-132. CONCLUSION: Four mRNA/miRNA pairs mentioned above seem to be involved in pathogenesis and maintenance of hypertension with BSS.


Assuntos
Células Endoteliais da Veia Umbilical Humana , Hipertensão/sangue , Hipertensão/genética , MicroRNAs/análise , Adulto , Células Cultivadas , Feminino , Expressão Gênica , Humanos , Hipertensão/complicações , Masculino , Pessoa de Meia-Idade , RNA Mensageiro , Adulto Jovem
20.
Int J Clin Exp Med ; 8(11): 21746-54, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26885137

RESUMO

PURPOSE: We aim to report a genetic testing and fertility guidance for the deaf through analyzing pedigree and molecular genetic characteristics of the couple who have non-syndromic sensorineural hearing loss (NSHL). METHODS: One of hospitalized congenial deaf couple and family members were included in this study. The wife was twin pregnant woman and her gestational age was 31(+5) pregnant weeks. The DNA was extracted from peripheral blood and umbilical vein blood, respectively. Mutation screening of common deafness genes was performed in pregnant women and other family members. Nine common mutations in four major deafness genes, GJB2 (35delG, 176del16, 235delC, 299delAT), GjB3 (C538T), SLC26A4 (IVS7-2A>G, A2168G) and Mitochondrial 12S rRNA (A1555G, C1494T), were detected simultaneously with a microarray based method. SLC26A4 whole genome sequencing was carried out for the results of the DNA microarray. According to the test results, the couple chose abortion termination of pregnancy twins, and after one year obtained singleton pregnancy by artificial insemination by donor (AID). In week 16 of pregnancy, amniocentesis had been done to collect fetal somatic cell and extract DNA, and then the above tests had been repeated. RESULTS: The couple had SLC26A4 combined heterozygous mutation. Both parents had SLC26A4 single heterozygous mutation. Twin fetuses had SLC26A4 combined heterozygous mutation. The probability of naturally being pregnant and bearing deaf children for the pregnant women was 100%. Fetus obtained by AID had SLC26A4 single heterozygous mutation. After the birth of the baby, her hearing has been normal. CONCLUSIONS: To reduce children with congenital deafness, screening high mutation sites by microarray, combined with pedigree analysis and gene sequencing is effective, and should be used as a routine inspection item for the deaf before marriage and pregnancy. On the basis of genetic testing for the couple with hearing loss, human assisted reproductive technology is a viable option to avoid the birth of infant with hereditary deafness.

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