Base de dados : MEDLINE
Pesquisa : C12.706.316.795 [Categoria DeCS]
Referências encontradas : 171 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 18 ir para página                         

  1 / 171 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
[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 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  3 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  4 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  5 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  6 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[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


  7 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28090675
[Au] Autor:Stagi S; Di Tommaso M; Scalini P; Sandini E; Masoni F; Chiarelli F; Verrotti A; Giglio S; Romano S; de Martino M
[Ad] Endereço:Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.
[Ti] Título:Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.
[So] Source:Acta Paediatr;106(4):619-626, 2017 Apr.
[Is] ISSN:1651-2227
[Cp] País de publicação:Norway
[La] Idioma:eng
[Ab] Resumo:AIM: The effect of a supernumerary X chromosome on bones has not been reported, and this study evaluated bone mineral status and metabolism in nonmosaic triple X syndrome. METHODS: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations. We also measured the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) Z-scores. RESULTS: Patients with nonmosaic triple X syndrome showed significantly reduced AD-SoS (p < 0.005) and BTT Z-scores (p < 0.0001) compared to the control group, and these results persisted when we divided the sample into prepubertal and pubertal patients (p < 0.05). These patients also had significantly reduced ionised calcium (p < 0.005) and 25(OH)D levels (p < 0.005) and higher phosphate (p < 0.0001) and PTH (p < 0.0001) levels. CONCLUSION: Subjects with nonmosaic triple X syndrome exhibited a significant impairment in bone mineral status and metabolism similar to other X polisomy, such as Klinefelter's syndrome. This suggests the presence of a primary bone deficit and the need for regular and close monitoring of these subjects.
[Mh] Termos MeSH primário: Osso e Ossos/metabolismo
Calcificação Fisiológica
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Criança
Cromossomos Humanos X/metabolismo
Estudos Transversais
Seres Humanos
Aberrações dos Cromossomos Sexuais
Trissomia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170117
[St] Status:MEDLINE
[do] DOI:10.1111/apa.13744


  8 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27242045
[Au] Autor:Liu XY; Wang RX; Fu Y; Luo LL; Guo W; Liu RZ
[Ad] Endereço:Center for Reproductive Medicine, Center of Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.
[Ti] Título:Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions.
[So] Source:Andrologia;49(1), 2017 Feb.
[Is] ISSN:1439-0272
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:We investigated whether the presence of Y chromosome azoospermia factor (AZF) microdeletions impacts upon the outcomes of intracytoplasmic sperm injection (ICSI) using fresh ejaculated spermatozoa. Sixteen oligozoospermia patients with Y chromosome AZFb or AZFc microdeletions and undergoing ICSI cycles between March 2013 and November 2014 were studied. Twenty-six infertile men with normal Y chromosomes and also undergoing IVF/ICSI in the same time period were used as controls. A retrospective case-control study approach was used. Among the 16 cases, 12 (75%, 12/16) had deletions of AZFc markers (sY152, sY254 and sY255), one (6.25%, 1/16) had a deletion of sY152, and two (12.5%, 2/16) had deletions of sY152, sY254, sY255 and sY157. AZFb microdeletions were found in one patient (6.25%, 1/16). There were no significant differences between groups for cleaved embryo rate, high-grade embryo rate, blastocyst formation rate, embryo implantation rate, clinical pregnancy rate and delivery rate. The clinical outcomes of ICSI for oligozoospermic patients with Y chromosome AZF microdeletion are comparable to those of infertile patients with normal Y chromosomes. Our findings indicate that ICSI should be offered to patients with an AZFc deletion and that oligozoospermia patients with AZFb microdeletions are likely to father children.
[Mh] Termos MeSH primário: Infertilidade Masculina/terapia
Oligospermia/terapia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia
Injeções de Esperma Intracitoplásmicas
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Deleção Cromossômica
Cromossomos Humanos Y/genética
Feminino
Seres Humanos
Infertilidade Masculina/genética
Masculino
Oligospermia/genética
Gravidez
Taxa de Gravidez
Estudos Retrospectivos
Aberrações dos Cromossomos Sexuais
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170209
[Lr] Data última revisão:
170209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160601
[St] Status:MEDLINE
[do] DOI:10.1111/and.12602


  9 / 171 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
[PMID]:28076602
[Au] Autor:Ghirelli-Filho M; Marchi PL; Mafra FA; Cavalcanti V; Christofolini DM; Barbosa CP; Bianco B; Glina S
[Ad] Endereço:Faculdade de Medicina do ABC, Santo André, SP, Brazil.
[Ti] Título:Incidence of Y-chromosome microdeletions in children whose fathers underwent vasectomy reversal or in vitro fertilization with epididymal sperm aspiration: a case-control study.
[So] Source:Einstein (Sao Paulo);14(4):534-540, 2016 Oct-Dec.
[Is] ISSN:2317-6385
[Cp] País de publicação:Brazil
[La] Idioma:eng; por
[Ab] Resumo:Objective: To evaluate the incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with sperm retrieval by epididymal aspiration (percutaneous epididymal sperm aspiration). Methods: A case-control study comprising male children of couples in which the man had been previously vasectomized and chose vasectomy reversal (n=31) or in vitro fertilization with sperm retrieval by percutaneous epididymal sperm aspiration (n=30) to conceive new children, and a Control Group of male children of fertile men who had programmed vasectomies (n=60). Y-chromosome microdeletions research was performed by polymerase chain reaction on fathers and children, evaluating 20 regions of the chromosome. Results: The results showed no Y-chromosome microdeletions in any of the studied subjects. The incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with spermatozoa recovered by percutaneous epididymal sperm aspiration did not differ between the groups, and there was no difference between control subjects born from natural pregnancies or population incidence in fertile men. Conclusion: We found no association considering microdeletions in the azoospermia factor region of the Y chromosome and assisted reproduction. We also found no correlation between these Y-chromosome microdeletions and vasectomies, which suggests that the assisted reproduction techniques do not increase the incidence of Y-chromosome microdeletions. Objetivo: Avaliar a incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados submetidos à reversão de vasectomia ou fertilização in vitro com recuperação de espermatozoides por aspiração do epidídimo (aspiração percutânea de espermatozoides do epidídimo). Métodos: Estudo caso-controle que compreende crianças do sexo masculino de casais em que o homem havia sido previamente vasectomizado e escolheu reversão da vasectomia (n=31) ou fertilização in vitro com recuperação espermática por aspiração percutânea de espermatozoides do epidídimo (n=30) para obtenção de novos filhos, e um Grupo Controle de crianças do sexo masculino de homens férteis com vasectomia programada (n=60). A pesquisa de microdeleções do cromossomo Y foi realizada por reação em cadeia da polimerase nos pais e filhos, avaliando 20 regiões do cromossomo. Resultados: O resultado não revelou microdeleções do cromossomo Y em qualquer indivíduo estudado. A incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados que sofreram reversão de vasectomia ou fertilização in vitro com espermatozoides recuperados pela aspiração percutânea de espermatozoides do epidídimo não diferiu entre os grupos, e não houve nenhuma diferença entre indivíduos controle nascidos de gestações naturais ou incidência populacional em homens férteis. Conclusão: Não foi encontrada nenhuma associação considerando microdeleções da região do fator de azoospermia no cromossomo Y e reprodução assistida. Não houve correlação entre microdeleções do cromossomo Y e vasectomia, o que sugere que as técnicas de reprodução assistida não aumentam a incidência de microdeleções do cromossomo Y.
[Mh] Termos MeSH primário: Fertilização In Vitro
Infertilidade Masculina/epidemiologia
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/epidemiologia
Recuperação Espermática
Vasovasostomia/efeitos adversos
[Mh] Termos MeSH secundário: Adulto
Azoospermia/genética
Brasil/epidemiologia
Estudos de Casos e Controles
Deleção Cromossômica
Cromossomos Humanos Y/genética
Pai
Feminino
Seres Humanos
Incidência
Infertilidade Masculina/genética
Masculino
Meia-Idade
Aberrações dos Cromossomos Sexuais
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Injeções de Esperma Intracitoplásmicas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170602
[Lr] Data última revisão:
170602
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170112
[St] Status:MEDLINE


  10 / 171 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27644018
[Au] Autor:Wigby K; D'Epagnier C; Howell S; Reicks A; Wilson R; Cordeiro L; Tartaglia N
[Ad] Endereço:Department of Pediatrics, Developmental Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
[Ti] Título:Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
[So] Source:Am J Med Genet A;170(11):2870-2881, 2016 Nov.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing. Medical and developmental features were compared between the prenatal and postnatal diagnosis groups using rate calculations and Fisher's exact test. Cognitive and adaptive tests scores were compared using t-tests. Seventy-four females age 6 months-24 years (mean 8.3 years) participated. Forty-four (59.5%) females were in the prenatal diagnosis group. Mean age of postnatal diagnosis was 5.9 years; developmental delay was the most common indication for postnatal genetic testing. Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). The prenatal diagnosis group had higher verbal (P < 0.001), general ability index (P = 0.004), and adaptive functioning scores (P < 0.001). Rates of ADHD (52.2% vs. 45.5%, P = 0.77) and learning disabilities (39.1% vs. 36.3%, P = 1.00) were similar between the two groups. These findings expand on the phenotypic features in females with Triple X syndrome and support that prenatally ascertained females have better cognitive and functional outcomes. However, prenatally diagnosed females are still at risk for neurodevelopmental disorders. Genetic counseling and treatment recommendations are summarized. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Fenótipo
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Trissomia/diagnóstico
Trissomia/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Cromossomos Humanos X/genética
Deficiências do Desenvolvimento/genética
Facies
Feminino
Testes Genéticos
Seres Humanos
Lactente
Cariotipagem
Neuroimagem
Testes Neuropsicológicos
Exame Físico
Diagnóstico Pré-Natal
Aberrações dos Cromossomos Sexuais
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/terapia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160920
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37688



página 1 de 18 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde