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  1 / 2193 MEDLINE  
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[PMID]:26117973
[Au] Autor:Rabiega-Gmyrek D; Olejniczak T; Niepsuj-Binias J; Guglas-Bochynska B; Jachowski P; Latos-Bielenska A; Opala T
[Ti] Título:[Chromosomal aberrations--the cause of spontaneous abortions].
[Ti] Título:Aberracje chromosomowe jako przyczyna poronien samoistnych..
[So] Source:Ginekol Pol;86(5):357-61, 2015 May.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:UNLABELLED: The genetic factor remains the most frequent cause of spontaneous abortions. Examination of the fetal tissue from spontaneous miscarriages shows that 75% of them were caused by abnormal karyotype. Other reasons, albeit rare, included submicroscopic genomic rearrangements, monogenic diseases, and polygenic inheritance disorders of the embryo. OBJECTIVE: The aim of the study was to analyze the incidence of chromosomal aberrations in material from the miscarriage. MATERIAL AND METHODS: The study included 47 samples of miscarriage material from 47 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination. RESULTS: Chromosomal abnormalities were diagnosed in 72% of the samples, with trisomy 21 (25.5%), trisomy 16 (17%), and trisomy 18 (12.8%) as the most common. An abnormal number of copies of chromosome 18, 21, 22, indicating the coexistence of trisomy 18, 21, 22, was detected in 1 patient. It was another miscarriage in case of 14 subjects (29.8%). CONCLUSIONS: Chromosomal aberrations were diagnosed in the majority of fetal tissue samples from spontaneous miscarriages. More than one chromosomal aberration in a single embryo is an extremely rare occurrence. Miscarriage due to chromosomal aberrations occurred in the vast majority of women > 35 years of age.
[Mh] Termos MeSH primário: Aborto Espontâneo/genética
Aberrações Cromossômicas/estatística & dados numéricos
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Hibridização in Situ Fluorescente
Idade Materna
Reação em Cadeia da Polimerase
Gravidez
Trissomia/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1508
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150630
[St] Status:MEDLINE


  2 / 2193 MEDLINE  
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[PMID]:25017606
[Au] Autor:Belba A; Riversi V; Mari F; Cellesi E; Ponchietti R
[Ad] Endereço:Urological and Andrological Unit, Department of Medicine, Surgery and Neuroscience, Siena. roberto.ponchietti@unisi.it.
[Ti] Título:Triorchidism: genetic and imaging evaluation in an adult male.
[So] Source:Arch Ital Urol Androl;86(2):156-7, 2014 Jun 30.
[Is] ISSN:1124-3562
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:We report the results of imaging and cytogenetic studies in a case of triorchidism in a 54 years old male without any associated anomaly. A scrotal ultrasonography revealed the presence of two testes within the left hemiscrotum with complete septation and echotexture and vascular flow pattern similar to the vascular flow of the normal right testis. There was no focal abnormal echogenicity suggesting malignancy. Scrotal MRI confirmed two soft-tissue structures in the left hemiscrotum with normal signal intensity at T1w and T2w images. Both testes had a tunica albuginea with low-signal intensity. Cytogenetic analysis resulted in normal male karyotype 46XY. Array-CGH analysis detected the presence of two interstitial rearrangements: a ~120 Kb deletion of chromosome 1 and a ~140 Kb deletion of chromosome 16. Currently there are little details on the functions of both genes.
[Mh] Termos MeSH primário: Testículo/anormalidades
Testículo/diagnóstico por imagem
[Mh] Termos MeSH secundário: Aberrações Cromossômicas
Cromossomos Humanos 1-3
Cromossomos Humanos 16-18
Anormalidades Congênitas/diagnóstico por imagem
Anormalidades Congênitas/genética
Seres Humanos
Masculino
Meia-Idade
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1411
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140715
[St] Status:MEDLINE
[do] DOI:10.4081/aiua.2014.2.156


  3 / 2193 MEDLINE  
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[PMID]:21395079
[Au] Autor:Kwinecka-Dmitriew B; Zakrzewska M; Latos-Bielenska A; Skrzypczak J
[Ad] Endereço:Klinika Rozrodczosci Uniwersytetu Medycznego w Poznaniu. kwinol69@gmail.com
[Ti] Título:[Frequency of chromosomal aberrations in material from abortions].
[Ti] Título:Czestosc wystepowania aberracji chromosomowych w materiale z poronien..
[So] Source:Ginekol Pol;81(12):896-901, 2010 Dec.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:UNLABELLED: Examination of fetal tissue from spontaneous miscarriages shows that 50-70% of them were caused by abnormal karyotype. The most frequent genetic abnormalities include abnormal number of chromosomes, aberration of chromosomes structure and chromosome mosaic anomalies. OBJECTIVE: The aim of the study was to find out whether there is any difference in the frequency of chromosomal aberrations in patients who miscarried for the first time comparing to patients with recurrent miscarriages. MATERIAL AND METHODS: Examination was performed on 129 miscarriage material samples from 128 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination. RESULTS: We received 120 results in which 45 (37,5%) were abnormal. The most frequent chromosomal aberration was trisomy followed by triploidy and monosomy of chromosome X. Among 59 samples from first miscarriage we found 25 abnormal karyotypes. In the 61 samples from the second, third and the next miscarriages we found 20 chromosomal abnormalities. CONCLUSIONS: Frequency of chromosomal aberrations in the tissue from the first miscarriage is significantly higher than in samples from second or following miscarriages, which means that genetic factors are less likely to induce recurrent miscarriages. Genetic results confirm that most chromosomal abnormalities arise de-novo.
[Mh] Termos MeSH primário: Aborto Espontâneo/genética
Aneuploidia
Aberrações Cromossômicas/estatística & dados numéricos
Cromossomos Humanos/genética
[Mh] Termos MeSH secundário: Adulto
Córion/patologia
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
Feminino
Seres Humanos
Polônia
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:110315
[St] Status:MEDLINE


  4 / 2193 MEDLINE  
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[PMID]:20973205
[Au] Autor:Skrzypczak J; Kwinecka-Dmitriew B; Zakrzewska M; Latos-Bielenska A
[Ad] Endereço:Klinika Rozrodczosci, UM w Poznaniu. klrozrod@gpsk.am.poznan.pl
[Ti] Título:[Do chromosomal abnormalities reappear in subsequent pregnancies and how often?].
[Ti] Título:Czy i jak czesto aberracje chromosomowe zarodków powtarzaja sie w kolejnej ciazy?.
[So] Source:Ginekol Pol;81(9):681-6, 2010 Sep.
[Is] ISSN:0017-0011
[Cp] País de publicação:Poland
[La] Idioma:pol
[Ab] Resumo:OBJECTIVE: Genetic factors are the most common causes of spontaneous abortions. 50% to 80% of first-trimester abortions reveal-chromosome abnormalities. Evidence for the recurrence of the same or another chromosome abnormality in the next pregnancy is scarce. THE AIM: The aim of our study was to estimate recurrence risk of abortus aneuploidy and to find out whether karyotyping of the abortus allows the prognose subsequent pregnancy outcomes. MATERIAL AND METHODS: Paraffin-embedded chorions have undergone cytogenetic examination using FISH with chromosome-specific probes. 57 chorions from 26 women have been assessed, including chorions from two consecutive abortions from 18 women and chorions from three consecutive abortions from 5 women. RESULTS: 38.6% of 57 specimens had chromosome aberrations. The most prevalent anomalies were 16, 21 and 18 trisomies. 23 patients had a subsequent abortion karyotyped; 15 had a normal initial karyotype and 8 had an aberrant initial karyotype. 3 out of the 8 patients had a repeated chromosome anomaly 5 out of the 15 patients who initially miscarried an aneuploid embryo, had a subsequent miscarriage of an aneuploid embryo. Only 3 (13.04%) out of the 23 patients displayed aneuploidy in each abortus. CONCLUSION: (1) Chromosome aberrations can reappear in subsequent pregnancies in the same patient and may be the cause of recurrent miscarriages. (2) The value of embryo/fetal karyotyping is not decisive in prognosis of subsequent pregnancy outcome. (3) Abnormal fetal karyotype can occur regardless of other causes of pregnancy loss.
[Mh] Termos MeSH primário: Aborto Habitual/genética
Aneuploidia
Aberrações Cromossômicas
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
[Mh] Termos MeSH secundário: Córion/patologia
Feminino
Seres Humanos
Cariotipagem
Gravidez
Aberrações dos Cromossomos Sexuais
Trissomia/genética
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Mês de entrada:1011
[Cu] Atualização por classe:170303
[Lr] Data última revisão:
170303
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:101027
[St] Status:MEDLINE


  5 / 2193 MEDLINE  
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[PMID]:20851799
[Au] Autor:Verdeguer A
[Ad] Endereço:Pediatric Oncology and Pediatric Hematopoietic Cell, Transplantation Unit, Clinical and Translational Investigation Group La Fe, Hospital Universitario Infantil La Fe, Valencia, Spain. verdeguer_amp@gva.es
[Ti] Título:Genetic alterations in children and adolescents with acute myeloid leukaemia.
[So] Source:Clin Transl Oncol;12(9):590-6, 2010 Sep.
[Is] ISSN:1699-3055
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations.
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Leucemia Mieloide Aguda/genética
Leucemia Mieloide Aguda/patologia
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Criança
Pré-Escolar
Cromossomos Humanos 1-3
Cromossomos Humanos 13-15
Cromossomos Humanos 16-18
Cromossomos Humanos 21-22 e Y
Cromossomos Humanos 6-12 e X
Análise Citogenética
Expressão Gênica
Seres Humanos
Lactente
Cariotipagem
Leucemia Mieloide Aguda/tratamento farmacológico
Leucemia Mieloide Aguda/metabolismo
Mutação
Prognóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1103
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100921
[St] Status:MEDLINE
[do] DOI:10.1007/s12094-010-0563-z


  6 / 2193 MEDLINE  
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[PMID]:20379095
[Au] Autor:Kagawa M; Okamura S; Okamoto K; Kitamura S; Kimura T; Niki M; Kaji M; Okahisa T; Yano M; Kagawa S; Kudo E; Sano T; Imoto Y; Wada S; Takayama T
[Ad] Endereço:Department of Gastroenterology and Oncology, Institute of Health Biosciences, The University of Tokushima Graduate School, Japan.
[Ti] Título:[Successful rituximab monotherapy in a patient with mucosa-associated lymphoid tissue lymphoma of the rectum with trisomy 3, 18].
[So] Source:Nihon Shokakibyo Gakkai Zasshi;107(4):612-9, 2010 Apr.
[Is] ISSN:0446-6586
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:A 62-year-old man was referred to our hospital with enlargement of mucosa-associated lymphoid tissue (MALT) lymphoma of the rectum after the eradication of Helicobacter pylori. The patient was given a diagnosis of stage I MALT. Endoscopic observation revealed an enlarged rectal tumor with 3, 18 double trisomy. Rituximab monotherapy was given and complete remission was achieved. Rituximab monotherapy can be useful for MALT lymphoma of the rectum.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/uso terapêutico
Antineoplásicos/uso terapêutico
Cromossomos Humanos 1-3
Cromossomos Humanos 16-18
Linfoma de Zona Marginal Tipo Células B/tratamento farmacológico
Neoplasias Retais/tratamento farmacológico
Trissomia
[Mh] Termos MeSH secundário: Anticorpos Monoclonais Murinos
Seres Humanos
Masculino
Meia-Idade
Indução de Remissão
Rituximab
[Pt] Tipo de publicação:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Antibodies, Monoclonal, Murine-Derived); 0 (Antineoplastic Agents); 4F4X42SYQ6 (Rituximab)
[Em] Mês de entrada:1005
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100410
[St] Status:MEDLINE


  7 / 2193 MEDLINE  
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[PMID]:20189377
[Au] Autor:Knösel T; Heretsch S; Altendorf-Hofmann A; Richter P; Katenkamp K; Katenkamp D; Berndt A; Petersen I
[Ad] Endereço:Institute of Pathology, Friedrich-Schiller University, Ziegelmühlenweg 1, 07743 Jena, Germany. thomas.knoesel@med.uni-jena.de
[Ti] Título:TLE1 is a robust diagnostic biomarker for synovial sarcomas and correlates with t(X;18): analysis of 319 cases.
[So] Source:Eur J Cancer;46(6):1170-6, 2010 Apr.
[Is] ISSN:1879-0852
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Genomewide expression profiling has identified a number of genes expressed at higher levels in synovial sarcoma than in other sarcomas. Our objectives in this study were (1) to test whether the differentially expressed gene, Transducin-Like Enhancer of split (TLE1) belonging to the groucho/TLE family, is also distinct on the protein level; (2) to evaluate this biomarker in a series of well-characterised synovial sarcomas on standard, full-sized tissue sections and (3) to correlate the expression of TLE1 with t(X;18) and other established biomarkers. METHODS: Three-hundred and eighty four spindle cell sarcomas from the German consultation and reference centre of soft tissue tumours initially suspected for synovial sarcoma were revisited. Three-hundred and nineteen of these specimens were analysed immunohistochemically using a monoclonal antibody TLE1 and standard, full-sized tissue sections. The nuclear staining was scored semiquantitatively as -, negative; +, weak; ++, moderate and +++, strong positive. Furthermore, 118 specimens among these were further analysed using FISH and/or PCR to detect t(X;18). We correlated the TLE1 expression with the t(X;18) translocation and other established biomarkers (EMA, PanCK, CK7, CD34 and BCL2). RESULTS: TLE1 expression was observed in 96% of the synovial sarcomas (score+, 249/259) and discriminates them from other soft tissue tumours (p<0.001). Multivariate analysis showed that positive TLE1 staining was a statistically independent diagnostic marker. Furthermore molecular analysis showed that t(X;18) was clearly correlated with TLE1 protein expression (p<0.001). CONCLUSIONS: Expression of TLE1 is significantly correlated with t(X;18) and may serve as a new robust diagnostic biomarker in synovial sarcomas and potential therapeutic target.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/metabolismo
Proteínas Repressoras/metabolismo
Sarcoma Sinovial/metabolismo
Neoplasias de Tecidos Moles/metabolismo
Translocação Genética/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Biomarcadores Tumorais/genética
Criança
Cromossomos Humanos 16-18/genética
Cromossomos Humanos X/genética
Feminino
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Masculino
Meia-Idade
Proteínas Repressoras/genética
Sarcoma/genética
Sarcoma/metabolismo
Sarcoma Sinovial/genética
Neoplasias de Tecidos Moles/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Repressor Proteins); 0 (TLE1 protein, human)
[Em] Mês de entrada:1006
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:100302
[St] Status:MEDLINE
[do] DOI:10.1016/j.ejca.2010.01.032


  8 / 2193 MEDLINE  
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[PMID]:19860526
[Au] Autor:Ettema AM; Wenghoefer M; Hansmann M; Carels CE; Borstlap WA; Bergé SJ
[Ad] Endereço:Department of Oral and Maxillofacial Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
[Ti] Título:Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology.
[So] Source:Cleft Palate Craniofac J;47(2):189-96, 2010 Mar.
[Is] ISSN:1545-1569
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. DESIGN: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyotype identification. Sonographic findings were compared with autopsy results in 209 patients (trisomy 13, n=39; trisomy 18, n=64; and trisomy 21, n=106). RESULTS: For trisomy 13, cleft deformities were detected prenatally in 65.2%, and of the 39 cases with pathological information, 76.9% were found to have a cleft deformity. Ocular and orbital abnormalities were found in 28%. Malformations of the jaws and abnormal profiles were more frequently diagnosed postnatally than prenatally. For trisomy 18, abnormal profiles (41.5%) and ear abnormalities (5.3%) were the most noticeable ultrasound markers, next to abnormalities of the neurocranium (36.8%) and cranial bone configuration (21.6%). Dysmorphisms of the eye, ear, or nose were detected more frequently in autopsy cases. For trisomy 21, ultrasound showed an aberrant shape of the skull in 14.2% of fetuses. In general, the ocular-orbital and nasal abnormalities in fetuses with trisomy 18 or 21 were more evident in pathological examination than in prenatal ultrasound imaging. CONCLUSIONS: Facial anomalies are common in the major trisomies, and their prenatal sonographic identification should be improved. The above-mentioned facial anomalies provide sufficient reason to consider performing cytogenic evaluation.
[Mh] Termos MeSH primário: Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Cromossomos Humanos 21-22 e Y/genética
Anormalidades Craniofaciais/diagnóstico por imagem
Anormalidades Craniofaciais/genética
Anormalidades Maxilofaciais/diagnóstico por imagem
Anormalidades Maxilofaciais/genética
Trissomia/patologia
Ultrassonografia Pré-Natal
[Mh] Termos MeSH secundário: Adulto
Amniocentese
Autopsia
Cromossomos Humanos 13-15/diagnóstico por imagem
Cromossomos Humanos 16-18/diagnóstico por imagem
Cromossomos Humanos 21-22 e Y/diagnóstico por imagem
Anormalidades Craniofaciais/patologia
Feminino
Marcadores Genéticos
Idade Gestacional
Seres Humanos
Recém-Nascido
Cariotipagem
Masculino
Idade Materna
Anormalidades Maxilofaciais/patologia
Fenótipo
Estudos Retrospectivos
Crânio/anormalidades
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1403
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:D; IM
[Da] Data de entrada para processamento:091029
[St] Status:MEDLINE
[do] DOI:10.1597/08-285


  9 / 2193 MEDLINE  
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[PMID]:19774616
[Au] Autor:Chen X; Yu K; Tong GX; Hood M; Storper I; Hamele-Bena D
[Ad] Endereço:Department of Pathology, Division of Cytopathology, Columbia University Medical Center, New York, New York 10032, USA. xc2159@columbia.edu
[Ti] Título:Fine needle aspiration of pleomorphic lipoma of the neck: report of two cases.
[So] Source:Diagn Cytopathol;38(3):184-7, 2010 Mar.
[Is] ISSN:1097-0339
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pleomorphic lipoma is a rare lipocytic neoplasm that most commonly occurs in the head and neck region in middle-aged to elderly men. Clinically, it presents as a slow-growing, well-circumscribed subcutaneous mass. Histopathologically and cytogenetically, it has some features overlapping with other benign and malignant tumors, such as benign spindle cell lipoma, atypical lipomatous tumor, liposarcoma, and malignant fibrous histiocytoma. However, cure rates are high when pleomorphic lipoma is treated with complete surgical excision with clear margins. Therefore, an accurate preoperative diagnosis is very important for proper treatment. Due to the rarity of this tumor, few cases diagnosed by cytology have been reported in the English literature. Here, we report two cases of pleomorphic lipoma, the diagnoses of which were suggested on fine needle aspiration biopsies and subsequently confirmed by surgical excisions.
[Mh] Termos MeSH primário: Neoplasias de Cabeça e Pescoço/patologia
Lipoma/patologia
Neoplasias de Tecidos Moles/patologia
[Mh] Termos MeSH secundário: Idoso de 80 Anos ou mais
Biomarcadores Tumorais/metabolismo
Biópsia por Agulha Fina
Aberrações Cromossômicas
Cromossomos Humanos 16-18
Cromossomos Humanos Par 13
Diagnóstico Diferencial
Necrose Gordurosa/diagnóstico
Neoplasias de Cabeça e Pescoço/genética
Neoplasias de Cabeça e Pescoço/metabolismo
Neoplasias de Cabeça e Pescoço/cirurgia
Seres Humanos
Achados Incidentais
Lipoma/genética
Lipoma/metabolismo
Lipoma/cirurgia
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Neoplasias de Tecidos Moles/genética
Neoplasias de Tecidos Moles/metabolismo
Neoplasias de Tecidos Moles/cirurgia
Neoplasias da Coluna Vertebral/patologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor)
[Em] Mês de entrada:1004
[Cu] Atualização por classe:151119
[Lr] Data última revisão:
151119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090924
[St] Status:MEDLINE
[do] DOI:10.1002/dc.21171


  10 / 2193 MEDLINE  
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[PMID]:19248005
[Au] Autor:Kagan KO; Cicero S; Staboulidou I; Wright D; Nicolaides KH
[Ad] Endereço:Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
[Ti] Título:Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.
[So] Source:Ultrasound Obstet Gynecol;33(3):259-64, 2009 Mar.
[Is] ISSN:1469-0705
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the performance of first-trimester screening for aneuploidies by including assessment of the fetal nasal bone in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Screening by the combined test was performed in singleton pregnancies, including 19,614 with euploid fetuses, 122 with trisomy 21, 36 with trisomy 18, 20 with trisomy 13 and eight with Turner syndrome. In all cases the fetal nasal bone was assessed and classified as present or absent. We examined the performance of two screening strategies: firstly, assessment of the nasal bone in all patients and secondly, first-stage screening using the combined test in all patients followed by second-stage assessment of the nasal bone only in those with an intermediate risk of 1 in 51 to 1 in 1000 after the first stage. To validate the new risk algorithm we used a second independent dataset of 19 651 fetuses, including 139 with trisomy 21. RESULTS: The nasal bone was absent in 2.6% of the euploid fetuses, 59.8% with trisomy 21, 52.8% with trisomy 18, 45.0% with trisomy 13 and in none of the fetuses with Turner syndrome. Respective figures for an absent nasal bone in the validation population, which contained fewer Black women, were 0.6%, 62.6%, 55.3%, 35.3% and 41.7%. In a screening policy based on maternal age, fetal NT, FHR, serum free beta-hCG and PAPP-A, for a fixed risk cut-off of 1 : 100, the false-positive rate was 3.0%. The standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome, respectively. Assessment of the nasal bone in all pregnancies reduced the false-positive rate to 2.5% without changing the detection rate. A detection rate of 93% was achieved with the two-stage strategy at a false-positive rate of 2.4% in which it was necessary to assess the nasal bone in only 15% of the total population. In the validation dataset, screening by the combined test and using a risk cut-off of 1 : 100 detected 90% of the cases with trisomy 21 for a false-positive rate of 4%. Inclusion of the nasal bone increased the detection rate to 92% for a false-positive rate of 2.9%. Contingent screening detected 92% of cases for a false-positive rate of 2.9%. CONCLUSIONS: Assessment of the fetal nasal bone improves the performance of first-trimester screening for trisomy 21.
[Mh] Termos MeSH primário: Gonadotropina Coriônica Humana Subunidade beta/sangue
Osso Nasal/anormalidades
Proteína Plasmática A Associada à Gravidez/análise
Trissomia/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Algoritmos
Gonadotropina Coriônica Humana Subunidade beta/genética
Cromossomos Humanos 13-15/genética
Cromossomos Humanos 16-18/genética
Síndrome de Down/diagnóstico
Feminino
Frequência Cardíaca Fetal/genética
Seres Humanos
Idade Materna
Meia-Idade
Osso Nasal/diagnóstico por imagem
Medição da Translucência Nucal
Gravidez
Primeiro Trimestre da Gravidez/sangue
Primeiro Trimestre da Gravidez/genética
Proteína Plasmática A Associada à Gravidez/genética
Estudos Prospectivos
Medição de Risco
Trissomia/genética
Síndrome de Turner/genética
Ultrassonografia Pré-Natal
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; VALIDATION STUDIES
[Nm] Nome de substância:
0 (Chorionic Gonadotropin, beta Subunit, Human); EC 3.4.24.- (Pregnancy-Associated Plasma Protein-A)
[Em] Mês de entrada:1002
[Cu] Atualização por classe:161125
[Lr] Data última revisão:
161125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:090228
[St] Status:MEDLINE
[do] DOI:10.1002/uog.6318



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