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  1 / 6511 MEDLINE  
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[PMID]:28450650
[Au] Autor:Birowo P; Putra DE; Dewi M; Rasyid N; Taher A
[Ad] Endereço:Department of Urology, Faculty of medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia. ponco.birowo@gmail.com.
[Ti] Título:Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men.
[So] Source:Acta Med Indones;49(1):17-23, 2017 Jan.
[Is] ISSN:0125-9326
[Cp] País de publicação:Indonesia
[La] Idioma:eng
[Ab] Resumo:AIM: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. METHODS: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities. Five men participated as control persons. RESULTS: partial deletion of AZFa was found in 11 men (15.49%), complete deletion of AZFb in 1 man (1.4%), and complete deletion of AZFc in 1 man (1.4%). The unspecific type of deletion was also detected, including the DBY gene in 2 men (2.81%), and partial deletion of both AZFa and AZFb in 2 men (2.81%). No AZF deletion was observed in the control probands. Related to the type of deletion, the AZFa and AZFb deletion showed spermatogenesis arrest in most tubules, while deletion of the DBY gene is associated with the sertoli cell only (SCO) syndrome. CONCLUSION: the frequency of partial deletion of AZFa was found to be relatively high in our center. The type of deletion is associated with the testicular histology.
[Mh] Termos MeSH primário: Azoospermia/genética
Infertilidade Masculina/genética
Oligospermia/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Testículo/patologia
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Deleção Cromossômica
Cromossomos Humanos Y/genética
Seres Humanos
Indonésia
Masculino
Reação em Cadeia da Polimerase Multiplex
Aberrações dos Cromossomos Sexuais
Espermatozoides/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE


  2 / 6511 MEDLINE  
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[PMID]:28874128
[Au] Autor:Chu QJ; Hua R; Luo C; Chen QJ; Wu B; Quan S; Zhu YT
[Ad] Endereço:Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Nanfang Hospital/ The First School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China.
[Ti] Título:Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.
[So] Source:BMC Med Genet;18(1):98, 2017 Sep 06.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA. METHODS: In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. The level of follicle stimulating hormone (FSH), inhibin B, Y chromosome microdeletion test (YCMD) and karyotype were measured. RESULTS: Abnormal karyotypes were present in 38.5% of NOA, and YCMD were present in 18.0%, there was a high correlation between karyotypes and YCMD (χ = 11.892, P < 0.001). The level of inhibin B in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And the level of inhibin B within Non-AZF a&b region deletion was higher than AZF a&b microdeletion. CONCLUSION: According to the level of inhibin B, spermatogenesis in chromosomal abnormality from lowest to highest was 46,XX (or 45,X), 47, XXY, mosaics, polymorphisms, inversion and translocation. And spermatogenesis within Non-AZF a&b region deletion was better than AZF a&b microdeletion.
[Mh] Termos MeSH primário: Azoospermia/genética
Inibinas/sangue
[Mh] Termos MeSH secundário: Adulto
Azoospermia/sangue
Deleção Cromossômica
Cromossomos Humanos Y
Hormônio Foliculoestimulante
Seres Humanos
Cariotipagem
Masculino
Estudos Retrospectivos
Aberrações dos Cromossomos Sexuais
Espermatogênese/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (inhibin B); 57285-09-3 (Inhibins); 9002-68-0 (Follicle Stimulating Hormone)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170907
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0456-x


  3 / 6511 MEDLINE  
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[PMID]:28692793
[Au] Autor:Sharma R; Harris VM; Cavett J; Kurien BT; Liu K; Koelsch KA; Fayaaz A; Chaudhari KS; Radfar L; Lewis D; Stone DU; Kaufman CE; Li S; Segal B; Wallace DJ; Weisman MH; Venuturupalli S; Kelly JA; Pons-Estel B; Jonsson R; Lu X; Gottenberg JE; Anaya JM; Cunninghame-Graham DS; Huang AJW; Brennan MT; Hughes P; Alevizos I; Miceli-Richard C; Keystone EC; Bykerk VP; Hirschfield G; Nordmark G; Bucher SM; Eriksson P; Omdal R; Rhodus NL; Rischmueller M; Rohrer M; Wahren-Herlenius M; Witte T; Alarcón-Riquelme M; Mariette X; Lessard CJ; Harley JB; Ng WF; Rasmussen A; Sivils KL; Scofield RH
[Ad] Endereço:Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, and Department of Veterans Affairs Medical Center, Oklahoma City.
[Ti] Título:Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.
[So] Source:Arthritis Rheumatol;69(11):2187-2192, 2017 Nov.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Sjögren's syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of ~10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. METHODS: We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. RESULTS: Among ~2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among ~2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in ~1 in 25,000-50,000 live female births, while partial triplications are even rarer. CONCLUSION: Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative.
[Mh] Termos MeSH primário: Cromossomos Humanos X/genética
Lúpus Eritematoso Sistêmico/genética
Mosaicismo/estatística & dados numéricos
Aberrações dos Cromossomos Sexuais/estatística & dados numéricos
Síndrome de Sjogren/genética
[Mh] Termos MeSH secundário: Alelos
Teorema de Bayes
Feminino
Dosagem de Genes
Seres Humanos
Cariótipo
Lúpus Eritematoso Sistêmico/epidemiologia
Polimorfismo de Nucleotídeo Único
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Síndrome de Sjogren/epidemiologia
Trissomia/genética
Síndrome de Turner/epidemiologia
Síndrome de Turner/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE
[do] DOI:10.1002/art.40207


  4 / 6511 MEDLINE  
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[PMID]:28586082
[Au] Autor:Björlin Avdic H; Giacobini M; Anderlid BM; Nordgren A; Frisén L
[Ad] Endereço:Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden.
[Ti] Título:Otillräcklig kunskap om samband mellan könskromosom­­avvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande..
[So] Source:Lakartidningen;114, 2017 Jun 02.
[Is] ISSN:1652-7518
[Cp] País de publicação:Sweden
[La] Idioma:swe
[Ab] Resumo:Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients.
[Mh] Termos MeSH primário: Transtornos do Neurodesenvolvimento/genética
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/complicações
[Mh] Termos MeSH secundário: Adolescente
Criança
Proteínas de Homeodomínio/genética
Seres Humanos
Transtornos dos Cromossomos Sexuais/epidemiologia
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE


  5 / 6511 MEDLINE  
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[PMID]:28369492
[Au] Autor:Hirai H; Hirai Y; Morimoto M; Kaneko A; Kamanaka Y; Koga A
[Ad] Endereço:Primate Research Institute, Kyoto University, Inuyama, Aichi, Japan.
[Ti] Título:Night Monkey Hybrids Exhibit De Novo Genomic and Karyotypic Alterations: The First Such Case in Primates.
[So] Source:Genome Biol Evol;9(4):945-955, 2017 Apr 01.
[Is] ISSN:1759-6653
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Using molecular chromosomal analyses, we discovered night monkey hybrids produced in captivity from matings between a female Aotus azarae boliviensis (2n = 50) and a male Aotus lemurinus griseimembra (2n = 53). The parents produced seven offspring in total, including one male and six females-a pattern consistent with Haldane's rule. Chromosomal studies were conducted on four of the hybrid offspring. Two of them showed relatively "simple" mixture karyotypes, including different chromosome numbers (2n = 51, 52), which were formed because of a heteromorphic autosome pair in the father (n = 26, 27). The other two hybrid monkeys exhibited de novo genomic and karyotypic alterations. Detailed analysis of the alterations revealed that one individual carried a mixture karyotype of the two parental species and an X chromosome trisomy (53,XXX). The second individual displayed trisomy of chromosome 18 (52,XX,+18) and a reciprocal translocation between autosomes 21 and 23 (52,XX,+18,t(21;23)). Interestingly, the second monkey exhibited mosaicism among blood cells (mos52,XX,+18[87]/52,XX,+18,t(21;23)[85]), but only a single karyotype (52,XX,+18) in skin fibroblast cells. The X- and 18-trisomies were derived from a doubling of the mother's chromosomes in early embryonic cell division, and the reciprocal translocation likely developed in the bone marrow of the offspring, considering that it was observed only in blood cells. Such occurrence of trisomies in hybrid individuals is a unique finding in placental mammals.
[Mh] Termos MeSH primário: Aotidae/genética
Primatas/genética
Cromossomo X/genética
[Mh] Termos MeSH secundário: Animais
Bandeamento Cromossômico
Cromossomos Humanos X/genética
Feminino
Fibroblastos
Seres Humanos
Hibridização Genética
Cariotipagem
Masculino
Aberrações dos Cromossomos Sexuais
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Trissomia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170505
[Lr] Data última revisão:
170505
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1093/gbe/evx058


  6 / 6511 MEDLINE  
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[PMID]:28357876
[Au] Autor:Zhang B; Lu BY; Yu B; Zheng FX; Zhou Q; Chen YP; Zhang XQ
[Ad] Endereço:Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.
[Ti] Título:Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
[So] Source:J Int Med Res;45(2):621-630, 2017 Apr.
[Is] ISSN:1473-2300
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).
[Mh] Termos MeSH primário: Aneuploidia
DNA/genética
Síndrome de Klinefelter/diagnóstico
Síndrome de Noonan/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos dos Cromossomos Sexuais/diagnóstico
Trissomia/diagnóstico
Cariótipo XYY/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos X/genética
DNA/sangue
Feminino
Feto
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Cariotipagem
Síndrome de Klinefelter/sangue
Síndrome de Klinefelter/genética
Síndrome de Klinefelter/patologia
Síndrome de Noonan/sangue
Síndrome de Noonan/genética
Síndrome de Noonan/patologia
Valor Preditivo dos Testes
Gravidez
Segundo Trimestre da Gravidez
Diagnóstico Pré-Natal/estatística & dados numéricos
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/sangue
Transtornos dos Cromossomos Sexuais/genética
Transtornos dos Cromossomos Sexuais/patologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/sangue
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologia
Cromossomos Sexuais/química
Cromossomos Sexuais/patologia
Trissomia/genética
Trissomia/patologia
Cariótipo XYY/sangue
Cariótipo XYY/genética
Cariótipo XYY/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170331
[St] Status:MEDLINE
[do] DOI:10.1177/0300060517695008


  7 / 6511 MEDLINE  
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[PMID]:28341418
[Au] Autor:He T; Zhang X; Deng H; Zhou W; Zhao X; Zhao H; Lu J; Zheng Y; Zhang C; Zhang L; Yin A
[Ad] Endereço:Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou 511400, China; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou 511400, China.
[Ti] Título:A novel Y chromosome microdeletion potentially associated with defective spermatogenesis identified by custom array comparative genome hybridization.
[So] Source:Reprod Biomed Online;34(1):75-81, 2017 Jan.
[Is] ISSN:1472-6491
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Male infertility is a major health problem worldwide. Oligospermia and azoospermia are the most common symptoms of this disorder. Despite recent advances, the aetiopathogenesis of defective spermatogenesis remains largely uncertain. The aim of this study is to discover unknown or novel chromosome aberrations associated with male reproductive failure. We developed a high-resolution custom array comparative genomic hybridization for initial screening of copy number variations in 10 patients with idiopathic oligozoospermia and azoospermia and eight normal fertile men. We found that deletions were mainly located in the deleted-in-azoospermia subregion and were confined to patients. More importantly, an interesting microdeletion of the Y chromosome designated as D01 was detected in four out of 10 patients with oligozoospermia and azoospermia. We validated this recurrent deletion in nine out of 100 additional infertile men using polymerase chain reaction assays, whereas, it was not present in 100 proven fertile controls(P = 0.002). Furthermore, a bioinformatics analysis demonstrated that the 5' terminal of D01 is situated proximal to several conserved transcription factor binding sites within the Y chromosome. Our study indicated that this newly identified Y chromosome deletion might be potentially associated with impaired spermatogenesis and it is worthy of further investigations in larger cohorts.
[Mh] Termos MeSH primário: Infertilidade Masculina/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Espermatogênese/genética
[Mh] Termos MeSH secundário: Adulto
Deleção Cromossômica
Cromossomos Humanos Y/genética
Hibridização Genômica Comparativa
Seres Humanos
Masculino
Aberrações dos Cromossomos Sexuais
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170326
[St] Status:MEDLINE


  8 / 6511 MEDLINE  
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[PMID]:28284509
[Au] Autor:Grati FR; Malvestiti F; Branca L; Agrati C; Maggi F; Simoni G
[Ad] Endereço:TOMA Advanced Biomedical Assays S.p.A., Via Francesco Ferrer 25/27, 21052, Busto Arsizio, Varese, Italy. Electronic address: fgrati@tomalab.com.
[Ti] Título:Chromosomal mosaicism in the fetoplacental unit.
[So] Source:Best Pract Res Clin Obstet Gynaecol;42:39-52, 2017 Jul.
[Is] ISSN:1532-1932
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Cytogenetic prenatal diagnosis on chorionic villi (CV) can be complicated by the detection of "chromosomal mosaicism." This is one of the main issues of first-trimester cytogenetic prenatal diagnosis as it can involve different types of chromosomal abnormalities, and the prediction of the fetal involvement is challenging because the detected abnormal mosaic cell line is not necessarily extended to fetal tissues. In addition, because the cell-free fetal DNA that is targeted by the new technologies for fetal aneuploidy risk assessment is mainly derived from the CV cells, the same challenges related to chromosomal mosaicism can be transferred into this new clinical field. This review illustrates the phenomenon of fetoplacental mosaicism, the management of prenatal diagnosis cases complicated by the detection of such a biological phenomenon, and the implications of its presence for the management of high-risk cfDNA testing results for fetal aneuploidies.
[Mh] Termos MeSH primário: Amostra da Vilosidade Coriônica
Aberrações Cromossômicas
Mosaicismo
Placenta
Diagnóstico Pré-Natal/métodos
[Mh] Termos MeSH secundário: Amniocentese
Análise Citogenética
Feminino
Retardo do Crescimento Fetal/genética
Seres Humanos
Cariotipagem
Gravidez
Aberrações dos Cromossomos Sexuais
Trissomia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[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:170313
[St] Status:MEDLINE


  9 / 6511 MEDLINE  
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[PMID]:28274950
[Au] Autor:Albuquerque EV; Scalco RC; Jorge AA
[Ad] Endereço:Unidade de Endocrinologia GenéticaLaboratório de Endocrinologia Celular e Molecular (LIM/25), Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
[Ti] Título:MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature.
[So] Source:Eur J Endocrinol;176(6):R339-R353, 2017 Jun.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.
[Mh] Termos MeSH primário: Estatura
Transtornos do Crescimento/diagnóstico
[Mh] Termos MeSH secundário: Acromegalia/diagnóstico
Acromegalia/metabolismo
Acromegalia/terapia
Síndrome de Beckwith-Wiedemann/complicações
Síndrome de Beckwith-Wiedemann/diagnóstico
Cromossomos Humanos X/genética
Gerenciamento Clínico
Síndrome do Cromossomo X Frágil/complicações
Transtornos do Crescimento/etiologia
Transtornos do Crescimento/genética
Transtornos do Crescimento/terapia
Lâmina de Crescimento/cirurgia
Homocistinúria/complicações
Homocistinúria/diagnóstico
Homocistinúria/genética
Seres Humanos
Fator de Crescimento Insulin-Like I/metabolismo
Síndrome de Klinefelter/diagnóstico
Síndrome de Klinefelter/genética
Síndrome de Marfan/diagnóstico
Síndrome de Marfan/genética
Obesidade/complicações
Aberrações dos Cromossomos Sexuais
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Síndrome de Sotos/complicações
Síndrome de Sotos/diagnóstico
Síndrome de Sotos/genética
Tireotoxicose/complicações
Trissomia/diagnóstico
Trissomia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
67763-96-6 (Insulin-Like Growth Factor I)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170425
[Lr] Data última revisão:
170425
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170310
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-16-1054


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[PMID]:28224649
[Au] Autor:Anaya G; Molina A; Valera M; Moreno-Millán M; Azor P; Peral-García P; Demyda-Peyrás S
[Ad] Endereço:Laboratorio de Diagnóstico Genético Veterinario, Departamento de Genética, Universidad de Córdoba, CN IV KM 396, Edificio Gregor Mendel, Campus Rabanales, Córdoba, 14071, España.
[Ti] Título:Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.
[So] Source:Anim Genet;48(4):412-419, 2017 Aug.
[Is] ISSN:1365-2052
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Chromosomal abnormalities in the sex chromosome pair (ECAX and ECAY) are widely associated with reproductive problems in horses. However, a large proportion of these abnormalities remains undiagnosed due to the lack of an affordable diagnostic tool that allows for avoiding karyotyping tests. Hereby, we developed an STR (single-tandem-repeat)-based molecular method to determine the presence of the main sex chromosomal abnormalities in horses in a fast, cheap and reliable way. The frequency of five ECAX-linked (LEX026, LEX003, TKY38, TKY270 and UCDEQ502) and two ECAY-linked (EcaYH12 and SRY) markers was characterized in 261 Purebred Spanish Horses to determine the efficiency of the methodology developed to be used as a chromosomal diagnostic tool. All the microsatellites analyzed were highly polymorphic, with a sizeable number of alleles (polymorphic information content > 0.5). Based on this variability, the methodology showed 100% sensitivity and 99.82% specificity to detect the most important sex chromosomal abnormalities reported in horses (chimerism, Turner's syndrome and sex reversal syndromes). The method was also validated with 100% efficiency in 10 individuals previously diagnosed as chromosomally aberrant. This STR screening panel is an efficient and reliable molecular-cytogenetic tool for the early detection of sex chromosomal abnormalities in equines that could be included in breeding programs to save money, effort and time of veterinary practitioners and breeders.
[Mh] Termos MeSH primário: Testes Genéticos/veterinária
Doenças dos Cavalos/genética
Cavalos/genética
Infertilidade/genética
Aberrações dos Cromossomos Sexuais
[Mh] Termos MeSH secundário: Animais
Cruzamento
Feminino
Cariotipagem
Masculino
Repetições de Microssatélites
Espanha
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE
[do] DOI:10.1111/age.12543



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