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[PMID]:29349655
[Au] Autor:Lo WJ; Lin CL; Chang YC; Bai LY; Lin CY; Liang JA; Li LY; Chao LM; Chiu CF; Chen CM; Yeh SP
[Ad] Endereço:Department of Life Sciences, National Chung Hsing University, Taichung, Taiwan.
[Ti] Título:Total body irradiation tremendously impair the proliferation, differentiation and chromosomal integrity of bone marrow-derived mesenchymal stromal stem cells.
[So] Source:Ann Hematol;97(4):697-707, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Total body irradiation (TBI) is frequently used in hematopoietic stem cell transplantation (HSCT) and is associated with many complications due to radiation injury to the normal cells, including normal stem cells. Nevertheless, the effects of TBI on the mesenchymal stromal stem cell (MSC) are not fully understood. Bone marrow-derived MSCs (BM-MSCs) isolated from normal adults were irradiated with 200 cGy twice daily for consecutive 3 days, a regimen identical to that used in TBI-conditioning HSCT. The characteristics, differentiation potential, cytogenetics, hematopoiesis-supporting function, and carcinogenicity of the irradiated BM-MSCs were then compared to the non-irradiated control. The irradiated and non-irradiated MSCs shared similar morphology, phenotype, and hematopoiesis-supporting function. However, irradiated MSCs showed much lower proliferative and differentiative potential. Irradiation also induced clonal cytogenetic abnormalities of MSCs. Nevertheless, the carcinogenicity of irradiated MSCs is low in vitro and in vivo. In parallel with the ex vivo irradiation experiments, decreased proliferative and differentiative abilities and clonal cytogenetic abnormalities can also be found in MSCs isolated from transplant recipients who had received TBI-based conditioning previously. Thus, TBI used in HSCT drastically injury MSCs and may contribute to the development of some long-term complications associated with clonal cytogenetic abnormality and poor adipogenesis and osteogenesis after TBI.
[Mh] Termos MeSH primário: Apoptose/efeitos da radiação
Células da Medula Óssea/efeitos da radiação
Aberrações Cromossômicas/efeitos da radiação
Células-Tronco Hematopoéticas/efeitos da radiação
Células Mesenquimais Estromais/efeitos da radiação
Lesões por Radiação/patologia
Irradiação Corporal Total/efeitos adversos
[Mh] Termos MeSH secundário: Adulto
Células-Tronco Adultas/efeitos da radiação
Células da Medula Óssea/citologia
Células da Medula Óssea/patologia
Diferenciação Celular/efeitos da radiação
Proliferação Celular/efeitos da radiação
Células Cultivadas
China
Transtornos Cromossômicos/etiologia
Transtornos Cromossômicos/patologia
Feminino
Transplante de Células-Tronco Hematopoéticas
Células-Tronco Hematopoéticas/citologia
Células-Tronco Hematopoéticas/patologia
Hospitais Universitários
Seres Humanos
Leucemia/patologia
Leucemia/terapia
Masculino
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/patologia
Necrose
Lesões por Radiação/etiologia
Condicionamento Pré-Transplante/efeitos adversos
Células Tumorais Cultivadas
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-018-3231-y


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[PMID]:29368469
[Au] Autor:Kashevarova AA; Lebedev IN
[Ti] Título:[Genomic architecture of human chromosomal diseases].
[So] Source:Genetika;52(5):511-28, 2016 May.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:The genomic architecture predisposed to the emergence of DNA copy number variation causing a new class of human chromosomal diseases­reciprocal microdeletion and microduplication syndromes­ is reviewed in the paper. The molecular mechanisms of such chromosomal abnormalities are described. The problems of the interpretation of their clinical significance and genotype-phenotype correlations are discussed. The classification of phenotypes due to reciprocal chromosomal microdeletions and microduplications is shown. Published by 2015, reciprocal mutations associated with inherited and congenital human pathology and involving 58 chromosomal regions are summarized.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Transtornos Cromossômicos/genética
Cromossomos Humanos/genética
Variações do Número de Cópias de DNA
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:29255569
[Au] Autor:Ayed W; Messaoudi I; Belghith Z; Hammami W; Chemkhi I; Abidli N; Guermani H; Obay R; Amouri A
[Ad] Endereço:Department of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunisie.
[Ti] Título:Chromosomal abnormalities in 163 Tunisian couples with recurrent miscarriages.
[So] Source:Pan Afr Med J;28:99, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:eng
[Ab] Resumo:Recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses before 24 weeks of gestation. Parental chromosomal abnormalities represent an important etiology of RM. The aim of the present study was to identify the distribution of chromosome abnormalities among Tunisian couples with RM referred to the Department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia) during the last five years. Standard cytogenetic analysis was carried out in a total of 163 couples presenting with two or more spontaneous abortions. Karyotypes were analyzed by R-banding. We identified 14 chromosomal abnormalities including autosomal reciprocal translocation, Robertsonian translocation, inversion, mosaic aneuploidy and heteromorphysm. The overall prevalence of chromosomal abnormalities was 8.5% in our cohort. This finding underlies the importance of cytogenetic investigations in the routine management of RM.
[Mh] Termos MeSH primário: Aborto Habitual/epidemiologia
Aberrações Cromossômicas
Transtornos Cromossômicos/epidemiologia
[Mh] Termos MeSH secundário: Aborto Habitual/genética
Adulto
Transtornos Cromossômicos/genética
Estudos de Coortes
Análise Citogenética
Feminino
Seres Humanos
Cariotipagem
Masculino
Gravidez
Prevalência
Translocação Genética
Tunísia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171222
[Lr] Data última revisão:
171222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.28.99.11879


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[PMID]:29046387
[Au] Autor:Kosiv KA; Gossett JM; Bai S; Collins RT
[Ad] Endereço:Departments of Pediatrics and.
[Ti] Título:Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18.
[So] Source:Pediatrics;140(5), 2017 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND AND OBJECTIVES: Congenital heart disease (CHD) is common in trisomy 13 (T13) and trisomy 18 (T18), but surgical repair has not been offered in most centers. Data on outcomes of congenital heart surgery (CHS) for T13 and T18 are lacking. We sought to determine the impact of CHS on in-hospital mortality in T13 and T18. METHODS: Data from the 2004 to 2015 Pediatric Health Information System database were used to identify inpatients with T13 or T18 and CHD. Data were restricted to newborns with T13 or T18 admitted at ≤14 days of age. Hospital readmissions were examined to analyze longer-term in-hospital mortality. In-hospital mortality and length of stay were compared between infants with and without CHD and with and without CHS. RESULTS: The study cohort included 1020 infants with T18 and 648 infants with T13. CHD was present in 91% of infants with T18 and 86% of infants with T13. CHS was performed in 7% of each group. In-hospital mortality was decreased in those who underwent CHS (64% lower in T18 [ <.001]; 45% lower in T13 [ = .003]) and remained decreased throughout the 24 months of follow-up. In-hospital mortality was decreased in infants with higher weight, female sex, and older age at admission. CONCLUSIONS: CHS is associated with decreased in-hospital mortality in T18 and T13. These results suggest CHS may be beneficial in select cases.
[Mh] Termos MeSH primário: Procedimentos Cirúrgicos Cardíacos/mortalidade
Transtornos Cromossômicos/mortalidade
Cardiopatias Congênitas/mortalidade
Mortalidade Hospitalar
Trissomia
[Mh] Termos MeSH secundário: Procedimentos Cirúrgicos Cardíacos/tendências
Transtornos Cromossômicos/epidemiologia
Transtornos Cromossômicos/cirurgia
Cromossomos Humanos Par 13
Cromossomos Humanos Par 18
Estudos de Coortes
Feminino
Cardiopatias Congênitas/epidemiologia
Cardiopatias Congênitas/cirurgia
Mortalidade Hospitalar/tendências
Seres Humanos
Recém-Nascido
Masculino
Estudos Retrospectivos
Síndrome da Trissomia do Cromossomo 13
Síndrome da Trissomía do Cromossomo 18
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171020
[St] Status:MEDLINE


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[PMID]:29046385
[Au] Autor:Jenkins KJ; Roberts AE
[Ad] Endereço:Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts kathy.jenkins@childrens.harvard.edu.
[Ti] Título:Trisomy 13 and 18: Cardiac Surgery Makes Sense if It Is Part of a Comprehensive Care Strategy.
[So] Source:Pediatrics;140(5), 2017 11.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Cromossomos Humanos Par 13
Trissomia
[Mh] Termos MeSH secundário: Procedimentos Cirúrgicos Cardíacos
Transtornos Cromossômicos
Cromossomos Humanos Par 18
Seres Humanos
Síndrome da Trissomia do Cromossomo 13
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171020
[St] Status:MEDLINE


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[PMID]:28965845
[Au] Autor:Loviglio MN; Arbogast T; Jønch AE; Collins SC; Popadin K; Bonnet CS; Giannuzzi G; Maillard AM; Jacquemont S; Yalcin B; Katsanis N; Golzio C; Reymond A; 16p11.2 Consortium
[Ad] Endereço:Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
[Ti] Título:The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
[So] Source:Am J Hum Genet;101(4):564-577, 2017 Oct 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, anatomical, and metabolic pathologies. These two CNVs are engaged in complex reciprocal chromatin looping, intimating a functional relationship between genes in these regions that might be relevant to pathomechanism. We assessed the drivers of the distal 16p11.2 duplication by overexpressing each of the nine encompassed genes in zebrafish. Only overexpression of LAT induced a reduction of brain proliferating cells and concomitant microcephaly. Consistently, suppression of the zebrafish ortholog induced an increase of proliferation and macrocephaly. These phenotypes were not unique to zebrafish; Lat knockout mice show brain volumetric changes. Consistent with the hypothesis that LAT dosage is relevant to the CNV pathology, we observed similar effects upon overexpression of CD247 and ZAP70, encoding members of the LAT signalosome. We also evaluated whether LAT was interacting with KCTD13, MVP, and MAPK3, major driver and modifiers of the proximal 16p11.2 600 kb BP4-BP5 syndromes, respectively. Co-injected embryos exhibited an increased microcephaly, suggesting the presence of genetic interaction. Correspondingly, carriers of 1.7 Mb BP1-BP5 rearrangements that encompass both the BP2-BP3 and BP4-BP5 loci showed more severe phenotypes. Taken together, our results suggest that LAT, besides its well-recognized function in T cell development, is a major contributor of the 16p11.2 220 kb BP2-BP3 CNV-associated neurodevelopmental phenotypes.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transdução de Sinal/genética
Transtorno Autístico/genética
Encéfalo/patologia
Transtornos Cromossômicos/genética
Cromossomos Humanos Par 16
Variações do Número de Cópias de DNA
Deficiência Intelectual/genética
Proteínas de Membrana/genética
Microcefalia/genética
Microcefalia/patologia
[Mh] Termos MeSH secundário: Proteínas Adaptadoras de Transdução de Sinal/metabolismo
Proteínas Adaptadoras de Transdução de Sinal/fisiologia
Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Animais
Transtorno Autístico/imunologia
Transtorno Autístico/patologia
Encéfalo/metabolismo
Criança
Pré-Escolar
Deleção Cromossômica
Transtornos Cromossômicos/imunologia
Transtornos Cromossômicos/patologia
Cromossomos Humanos Par 16/genética
Cromossomos Humanos Par 16/imunologia
Estudos de Coortes
Embrião não Mamífero/metabolismo
Embrião não Mamífero/patologia
Feminino
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Lactente
Deficiência Intelectual/imunologia
Deficiência Intelectual/patologia
Masculino
Proteínas de Membrana/metabolismo
Proteínas de Membrana/fisiologia
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Meia-Idade
Fenótipo
Fosfoproteínas/fisiologia
Transdução de Sinais
Adulto Jovem
Peixe-Zebra/embriologia
Peixe-Zebra/genética
Proteínas de Peixe-Zebra/genética
Proteínas de Peixe-Zebra/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (LAT protein, human); 0 (Lat protein, mouse); 0 (Membrane Proteins); 0 (Phosphoproteins); 0 (Zebrafish Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171003
[St] Status:MEDLINE


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[PMID]:28805315
[Au] Autor:Valizadeh A; Yazdani R; Azizi G; Abolhassani H; Aghamohammadi A
[Ad] Endereço:Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran.
[Ti] Título:A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency.
[So] Source:Scand J Immunol;86(4):239-247, 2017 Oct.
[Is] ISSN:1365-3083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency disease, and its prevalence varies significantly among different population. Minority of CVID patients present a familial aggregation suggesting a higher probability of heritable genetic defects. A total of 235 registered CVID patients were evaluated in this cohort study. Familial and sporadic patients were stratified, and demographic information, clinical records, laboratory and molecular data were compared among these two groups of patients. Multiple cases were identified in 12 families (30 patients) and sporadic presentation in 120 cases. The rate of parental consanguinity (83.3%) and clinical presentation of lymphoid malignancy (20.7%) were predominant in familial CVID patients, whereas significantly increased recurrent upper respiratory infections were recorded in sporadic patients (0.3 infections per year). Probands of familial group were presented with a higher severity score resulting in a profound mortality rate (41.7% after 30-year follow-up) comparing to the non-proband CVID patients in the same families with a lowered diagnostic delay. Familial CVID patients had a specific signature in clinical presentation and immunologic profile, and a high consanguinity in this group of patients suggests a Mendelian trait with an autosomal recessive inheritance pattern. Diagnosis of an index patient within a multiple case families significantly improves the diagnostic process and outcomes of the yet asymptomatic patients.
[Mh] Termos MeSH primário: Imunodeficiência de Variável Comum/imunologia
Linfoma/imunologia
Linhagem
Infecções Respiratórias/imunologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Transtornos Cromossômicos
Imunodeficiência de Variável Comum/genética
Imunodeficiência de Variável Comum/mortalidade
Consanguinidade
Feminino
Genes Recessivos
Seres Humanos
Linfoma/genética
Linfoma/mortalidade
Masculino
Meia-Idade
Fenótipo
Infecções Respiratórias/genética
Infecções Respiratórias/mortalidade
Análise de Sobrevida
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE
[do] DOI:10.1111/sji.12593


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[PMID]:28750581
[Au] Autor:Bassett AS; Lowther C; Merico D; Costain G; Chow EWC; van Amelsvoort T; McDonald-McGinn D; Gur RE; Swillen A; Van den Bree M; Murphy K; Gothelf D; Bearden CE; Eliez S; Kates W; Philip N; Sashi V; Campbell L; Vorstman J; Cubells J; Repetto GM; Simon T; Boot E; Heung T; Evers R; Vingerhoets C; van Duin E; Zackai E; Vergaelen E; Devriendt K; Vermeesch JR; Owen M; Murphy C; Michaelovosky E; Kushan L; Schneider M; Fremont W; Busa T; Hooper S; McCabe K; Duijff S; Isaev K; Pellecchia G; Wei J; Gazzellone MJ; Scherer SW; Emanuel BS; Guo T; Morrow BE; Marshall CR; International 22q11.2DS Brain and Behavior Consortium
[Ad] Endereço:From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, To
[Ti] Título:Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
[So] Source:Am J Psychiatry;174(11):1054-1063, 2017 Nov 01.
[Is] ISSN:1535-7228
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression. METHOD: Through an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia. RESULTS: Rare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci. CONCLUSIONS: The results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.
[Mh] Termos MeSH primário: Transtorno do Espectro Autista/genética
Transtorno Autístico/genética
Transtornos Cromossômicos/genética
Síndrome de DiGeorge/genética
Deficiência Intelectual/genética
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Adulto
Transtorno do Espectro Autista/psicologia
Transtorno Autístico/psicologia
Deleção Cromossômica
Transtornos Cromossômicos/psicologia
Cromossomos Humanos Par 16/genética
Variações do Número de Cópias de DNA
Síndrome de DiGeorge/psicologia
Feminino
Seres Humanos
Deficiência Intelectual/psicologia
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170729
[St] Status:MEDLINE
[do] DOI:10.1176/appi.ajp.2017.16121417


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[PMID]:28737006
[Au] Autor:Opsjøn BE; Nordbø SA; Vogt C
[Ad] Endereço:Department of Laboratory Medicine, Children's and Women's Health, Faculty of Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
[Ti] Título:Unrecognized viral infections and chromosome abnormalities as a cause of fetal death - examination with fluorescence in situ hybridization, immunohistochemistry and polymerase chain reaction.
[So] Source:APMIS;125(9):826-832, 2017 Sep.
[Is] ISSN:1600-0463
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Fifteen to 50% of fetal deaths remain unexplained after post-mortem examination depending on inclusion criteria and classification systems. Our aim was to examine a selection of unexplained fetal deaths in order to investigate whether any common chromosome aberrations or viral infections were present. Reports from 351 fetal autopsies performed at the Department of Pathology and Medical Genetics at St. Olavs University Hospital from 2001 through 2010 were reviewed. Of these, 105 fetal deaths were classified as unexplained. Tissue samples from 30 cases were further examined with fluorescence in situ hybridization (FISH) to detect abnormalities in chromosomes 13, 18, and 21. The samples were also examined with immunohistochemistry (IHC) and polymerase chain reaction (PCR) to detect infections with cytomegalovirus, parvovirus B19, herpes simplex virus 1 and 2, enterovirus, and parechovirus. In two cases, a possible trisomy 13 mosaicism was found. No viruses were detected. In our selection of 30 unexplained cases, possible trisomy 13 mosaicism was found in two cases, and no viruses were detected. High degree of maceration and missing placental examination often complicate the investigation of fetal death, and extensive ancillary examinations do not necessarily contribute to a more specific diagnosis.
[Mh] Termos MeSH primário: Transtornos Cromossômicos/diagnóstico
Morte Fetal/etiologia
Morte Perinatal/etiologia
Complicações Infecciosas na Gravidez/diagnóstico
Trissomia/diagnóstico
Viroses/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Autopsia
Transtornos Cromossômicos/genética
Cromossomos Humanos Par 13/genética
Feminino
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Masculino
Reação em Cadeia da Polimerase
Gravidez
Complicações Infecciosas na Gravidez/virologia
Trissomia/genética
Síndrome da Trissomia do Cromossomo 13
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170725
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12726


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[PMID]:28682865
[Au] Autor:Yu B; Lu BY; Zhang B; Zhang XQ; Chen YP; Zhou Q; Jiang J; Wang HY
[Ad] Endereço:Changzhou Woman and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu, China.
[Ti] Título:Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood.
[So] Source:Medicine (Baltimore);96(27):e7114, 2017 Jul.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0.09%. Seventy-two cases got the NIPT positive results of trisomy 21/trisomy 18/trisomy 13, and the detection rate, specificity, positive predictive value (PPV), and false positive rate were 98.59%, 99.99%, 97.22%, and 0.02%. The top-3 indications of the study were advanced age women (34.90%), high risk (25.22%), and intermediate risk (19.56%). They all had the satisfactory results of NIPT. Fifty-seven pregnant women had the high risk of fetal sex chromosomal aneuploidies (SCA). After informed consent, 33 cases accepted prenatal diagnosis. Eighteen cases were confirmed as sex chromosome aneuploidies. The PPV was 54.54%. Compared with other SCA, the PPV of Turner syndrome was lower. One case was false negative after followed up. CONCLUSIONS: NIPT showed a broad application prospects for prenatal screening and diagnosis of fetal chromosomal diseases. We should deepen mining and analyzing the clinical data, and explore the use of NIPT more reasonably from the perspective of evidence-based medicine.
[Mh] Termos MeSH primário: Aneuploidia
Transtornos Cromossômicos/diagnóstico
DNA/sangue
Testes para Triagem do Soro Materno
[Mh] Termos MeSH secundário: Adolescente
Adulto
Transtornos Cromossômicos/sangue
Transtornos Cromossômicos/genética
Reações Falso-Negativas
Reações Falso-Positivas
Feminino
Testes Genéticos
Seres Humanos
Idade Materna
Meia-Idade
Gravidez
Gravidez de Alto Risco/sangue
Gravidez de Alto Risco/genética
Sensibilidade e Especificidade
Adulto Jovem
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170707
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007114



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