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Id: lil-778498
Autor: Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis.
Título: Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype / Análise de anomalias cromossômicas por CGH-array em pacientes com dismorfias e deficiência intelectual com cariótipo normal
Fuente: Einstein (Säo Paulo);14(1):30-34, Jan.-Mar. 2016. tab, graf.
Idioma: en.
Resumen: ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.

RESUMO Objetivo Avaliar microalterações cromossômicas por CGH-array em portadores de dismorfias e deficiência intelectual com cariótipo normal. Métodos Estudo retrospectivo, realizado no período de janeiro de 2012 a fevereiro de 2014, analisando os resultados de CGH-array de 39 pacientes. Resultados Apresentaram resultados normais 26 (66,7%) pacientes; 13 (33,3%) tiveram resultados alterados, a saber: 6 (15,4%) com variantes patogênicas, 6 (15,4%) com variantes pertencentes à categoria designada como incerta, e 1 (2,5%) com variantes não patogênicas. Conclusão A caracterização do perfil genético por CGH-array nos pacientes com deficiência intelectual e dismorfias possibilitou complementar o diagnóstico etiológico, permitindo a realização do aconselhamento genético para as famílias e tratamento específico.
Responsable: BR1.1 - BIREME


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Chauffaille, Maria de Lourdes L. F
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Id: lil-741876
Autor: Noronha, Thiago Rodrigo de; Rohr, Sandra Serson; Chauffaille, Maria de Lourdes Lopes Ferrari.
Título: Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes
Fuente: Rev. bras. hematol. hemoter;37(1):48-54, Jan-Feb/2015. tab, graf, ilus.
Idioma: en.
Proyecto: CNPQ; . FAPESP.
Resumen: Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping. Methods: Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan(r) HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC). Results: The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28-93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnor- mal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity). Conclusion: It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies. .
Responsable: BR408.1 - Biblioteca da Faculdade de Medicina - BFM


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Margarido, Vladimir Pavan
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Id: biblio-1040664
Autor: Fernandes, Carlos Alexandre; Aguiar, Allan Kardec Moreira de; Paiz, Leonardo Marcel; Baumgärtner, Lucas; Piscor, Diovani; Margarido, Vladimir Pavan.
Título: First chromosomal analysis of Gymnorhamphichthys britskii: the remarkable lowest diploid value within the family Rhamphichthyidae (Gymnotiformes)
Fuente: Neotrop. ichthyol;17(3):e190069, 2019. graf.
Idioma: en.
Resumen: Gymnorhamphichthys britskii is a Neotropical electric fish of family Rhamphichthyidae described from the Paraná-Paraguay system. This study reports the first karyotypic description of G. britskii collected from the upper Paraná river basin, which presented 2n=38 chromosomes, karyotype composed of 14 metacentric, 8 submetacentric, 2 subtelocentric and 14 acrocentric chromosomes, and fundamental number as 62 for both sexes. Heteromorphic sex chromosomes were absent. A single pair of nucleolar organizing regions (NORs) was detected in the submetacentric chromosome pair number 9 by silver staining and confirmed by the 18S rDNA probe. The 5S rDNA was located in a single chromosome pair. Heterochromatic regions were clearly observed in the short arms of the NOR-bearing chromosome pair and in the telomeric positions of most acrocentric chromosomes. Besides the present data are valuable to help in understanding karyotypic evolution in Rhamphichthyidae, data from NORs confirmed the tendency of this family in presenting simple NORs sites, similar to the other Gymnotiformes clades. Yet, the presence of a large heterochromatic block in the NOR-bearing chromosome can be used as cytogenetic markers for G. britskii, and that centric fusions appear to be an important mechanism in the karyotype evolution and differentiation among Gymnotiformes species.(AU)

Gymnorhamphichthys britskii é um peixe neotropical da família Rhamphichthyidae descrita no sistema Paraná-Paraguai. Este estudo relata a primeira descrição cariotípica de G. britskii coletado na bacia do alto rio Paraná, que apresentou 2n = 38 cromossomos, cariótipo composto por 14 metacêntricos, 8 submetacêntricos, 2 subtelocêntricos e 14 acrocêntricos, e número fundamental 62 para ambos sexos. Cromossomos sexuais heteromórficos estavam ausentes. Um único par de regiões organizadoras de nucléolos (RONs) foi detectado no par de cromossomos submetacêntricos número 9 por coloração com prata e confirmado pela sonda DNAr 18S. O DNAr 5S foi localizado em um único par cromossômico. Regiões heterocromáticas foram claramente observadas nos braços curtos do par de cromossomos que carrega a RON e nas posições teloméricas da maioria dos cromossomos acrocêntricos. Além dos dados presentes serem valiosos para auxiliar na compreensão da evolução cariotípica em Rhamphichthyidae, dados de RONs confirmaram a tendência desta família em apresentar sítios simples de RONs, semelhantes aos demais clados de Gymnotiformes. No entanto, a presença de um grande bloco heterocromático no cromossomo portador da RON, pode ser usado como marcador citogenético para G. britskii e as fusões cêntricas parecem ser um mecanismo importante na evolução e diferenciação cariotípica entre as espécies de Gymnotiformes.(AU)
Responsable: BR68.1 - Biblioteca Virginie Buff D'Ápice


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Id: biblio-998082
Autor: Torres, Elodia.
Título: Ventajas y limitaciones de la citogenética en la medicina actual / Advantages and limitations of cytogenetics in current medicine
Fuente: Mem. Inst. Invest. Cienc. Salud (Impr.);16(2):107-112, Ago. 2018. ilus.
Idioma: es.
Resumen: La citogenética es el estudio de los cromosomas tanto en número como en estructura. En 1882 Flemming publica las primeras primeras ilustraciones de los cromosomas humanos a partir de observaciones al microscopio y recién en el año 1953, Tjio y Levan determinaron el número real de cromosomas humanos por célula diploide (2n=46). El propósito de este trabajo es presentar el valor, uso actual e importancia de los estudios citogenéticos en aquellos casos en que el profesional de salud se enfrente a un paciente con una probable enfermedad de causa genética o síndrome dismórfico, además de exponer algunas experiencias de un laboratorio de Citogenética en el Paraguay, donde se realiza el estudio cromosómico. Aún con el advenimiento de la Biología Molecular y de la Citogenética Molecular, la citogenética convencional sigue siendo una herramienta de gran importancia, ya que permite realizar el diagnóstico de una enfermedad genética en pacientes con sospecha clínica de ser portadores de anomalías cromosómicas, y por tanto asesorar a las familias respecto de dicha enfermedad, proveer un pronóstico, riesgo de recurrencia y en casos que se requiera, un tratamiento(AU)

Cytogenetics is the study of chromosomes both in number and structure. The first publications about human cytogenetics were provided towards the end of the 19th century with the publication of Flemming in 1882 of the first figures of human chromosomes from observations under the microscope and only in 1953, Tjio and Levan determined the actual number of human chromosomes per diploid cell (2n = 46). The purpose of this paper is to present the value, current use and importance of cytogenetic studies in those cases in which the health professional faces a patient with a probable disease of genetic causes or dysmorphic syndrome, in addition to exposing some experiences from a Cytogenetics laboratory in Paraguay, where chromosomal study is carried out. Even with the arrival of Molecular Biology and Molecular Cytogenetics, conventional cytogenetics is a tool with a great importance, which allows the genetic disease diagnosis in patients with clinical suspicion of being carriers of chromosomal abnormalities, allowing to advice families about the disease, as well as to provide a prognosis, risk of recurrence and, in cases that requires it, a treatment(AU)
Responsable: PY3.1 - Biblioteca


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Id: biblio-1016882
Autor: Machado, Jéssica Z; Miranda, Ana C S de; Golçalves, Claudia R.
Título: Isoenzyme electrophoresis and karyotype techniques as an alternative for cell line identity confirmation
Fuente: Virus reviews and research;19:1-5, 2014. graf, ilus.
Idioma: en.
Responsable: BR91.2 - Centro de Documentação


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Id: biblio-1006870
Autor: Luna Barrón, B; Taboada López, G; Siacar Bacarreza, S; Lafuente Álvarez, E; Rada Tarifa, A; Darinka Contreras Castro, T; Burgos Zuleta, J. L.
Título: Trisomía 9: reporte de un caso / Trisomy 9: a case report
Fuente: Cuad. Hosp. Clín = Cuad. - Hosp. clín;60(1):37-40, jun. 2019. ilus..
Idioma: es.
Resumen: La trisomía 9 es una enfermedad rara, que ha sido descrita por primera vez en 1970, a la fecha existen más de 150 casos reportados, caracterizados por dismorfias faciales, anomalías congénitas y retraso en el desarrollo psicomotor y/o discapacidad intelectual. Este es el primer caso reportado en nuestra población en un infante de sexo masculino con peso y talla bajos, fisura labiopalatina y retraso madurativo en varias áreas del desarrollo, en quien el cariotipo mostró un mosaico cromosómico con el 70% de sus células con la trisomía del cromosoma 9. El asesoramiento genético en estos casos es de vital importancia para orientar a los padres sobre posibles causas y explicar sobre la condición genética, su manejo y establecer pautas de seguimiento para hacer prevención terciaria
Responsable: BO138.1 - Biblioteca Central


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Id: biblio-995809
Autor: Guapi Nauñay, Víctor Hugo; De la Cruz Jiménez, Griselda Josefina; Mera Bastidas, Sandra Patricia.
Título: Translocación rob(13; 15) (q10; q10): a propósito de un caso / Rob(13; 15) (q10; q10) translocation: comments on a case
Fuente: Univ. med;59(2):1-5, 2018. ilus.
Idioma: es.
Resumen: Introducción: La translocación robertsoniana se define como la fusión de dos cromosomas acrocéntricos no homólogos, con una frecuencia de un caso por cada 1000 recién nacidos. Caso clínico: Mujer de 31 años de edad, con 6 abortos. Gesta 1: hija de 12 años de edad, con ausencia de dismorfias. Terminaron en abortos espontáneos antes de las 12 primeras semanas de gestación desde la gesta 2, 11 años atrás, hasta la gesta 7, ocurrida en el año de la consulta. Con estudio citogenético que reporta 45, XX, rob(13;15) (q10;q10). Conclusión: El portador de una translocación robertsoniana entre los cromosomas 13;15 conduce a la pérdida precoz del embarazo o al nacimiento de un neonato con múltiples defectos.

Introduction: Robertsonian translocation is defined as the fusion of two non-homologous acrocentric chromosomes, with a frequency of one case per 1000 newborns. Case report: A 31-year-old female patient with the following gynecological and obstetrical history: gestations: 7, abortions 6, births 0, cesareans 1, children alive 1, children dead 0. Pregnancy 1: 12-year-old daughter, with no dysmorphia, from the second gestation 11 years ago to the seven gestations occurred this year, have ended in spontaneous abortions before the first 12 weeks of gestation. With a cytogenetic study that reports Robetsonian translocation, 45, XX, t (13/15). Conclusion: The carrier of a Robertsonian translocation between chromosomes 13; 15, an event that leads to the early pregnancy of pregnancy or to the birth of a neonate with multiple defects.
Responsable: CO185.1 - Biblioteca Alfonso Borrero Cabal, S. J.


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Id: lil-641981
Autor: Pacenza, N; Pasqualini, T; Gottlieb, S; Knoblovits, P; Costanzo, P; Stewart Usher, J; Rey, R; Martínez, M; Aszpis, S.
Título: Síndrome de Klinefelter en las distintas edades: experiencia multicéntrica / Klinefelter Syndrome at differents ages: multicentric experience
Fuente: Rev. argent. endocrinol. metab;47(4):29-39, oct.-dic. 2010. graf, tab.
Idioma: es.
Resumen: El Síndrome de Klinefelter (SK) es la anormalidad cromosómica más frecuente en los varones, con una prevalencia estimada de 1:600 recién nacidos. El objetivo de este trabajo fue establecer las distintas características de presentación del SK a distintas edades, incluyendo signos y síntomas clínicos, parámetros de laboratorio y otros exámenes complementarios. La franja etaria más frecuente de diagnóstico de SK fue entre los 11 y 20 años (46,8%). En 4 casos el diagnóstico fue prenatal. Los motivos de consulta más frecuentes en forma global fueron la presencia de testículos pequeños, infertilidad y criptorquidia. El cariotipo más prevalente fue el clásico 47,XXY (83,7%), seguido del mosaico 47,XXY/46,XY (7,1%). El promedio de talla de nuestros pacientes prepuberales no mostró diferencia con la población general. Por otro lado, los pacientes puberales presentaron un promedio de talla significativamente más alto, hallándose alrededor de 1 SDS. Hubo correlación entre la edad y el SDS de talla. La media de talla de los adultos fue 178,8 ± 9,0 cm; se observó un 62,5% de sobrepeso/obesidad (IMC ≥ 25,0 kg/m²). El 50% de nuestros pacientes con SK menores de 18 años presentaron trastornos neurocognitivos. El hallazgo clínico más frecuente entre los pacientes prepuberales fue la criptorquidia. En los puberales las consultas y hallazgos clínicos más frecuentes fueron: testículos pequeños, criptorquidia y ginecomastia. Todos nuestros pacientes en estadio de Tanner igual o mayor de III presentaron testículos más pequeños para su grado de desarrollo. Los valores de FSH y LH fueron normales en los pacientes prepuberales y comenzaron a aumentar en la pubertad. Los adultos consultaron más frecuentemente por hipotrofia testicular, infertilidad y en menor grado ginecomastia. Todos los pacientes presentaron testículos hipotróficos, con una mediana de volumen testicular de 3,5 (1-8) ml. El 56,4% presentaron función sexual normal; el resto tuvo algún tipo de disfunción sexual. La testosterona total (TT) fue normal en 45% de los pacientes, con descenso consistente con la edad, donde todos los pacientes mayores de 40 años presentaron TT subnormal. El 10,7% de los pacientes que efectuaron espermograma tuvo oligospermia severa, el resto presentó azoospermia. La densitometría ósea fue anormal en el 46,4% de los adultos estudiados. Sin embargo, no hubo diferencias significativas en la prevalencia de osteopenia y osteoporosis entre los pacientes con TT normal o subnormal.

Klinefelter syndrome (KS) is the most common chromosomal aberration among men, with an estimated prevalence of 1:600 newborns. It is an X chromosome polysomy, with X disomy being the most common variant (47,XXY). The aim of this study was to establish the characteristics of KS presentation at different ages, including signs and symptoms, laboratory parameters and other diagnostic tests. The diagnosis of KS was more frequent in the age group between 11 and 20 years (46.8%). Most of the patients (83.7%) showed the classic 47,XXY karyotype and 7.1% showed a 47,XXY/46,XY mosaicism. While mean prepubertal height was not different from the control population, it was significantly higher at puberty. Patients consulted most frequently for small testes, infertility and cryptorchidism. In four cases the diagnosis was prenatal. 50% of our patients younger than 18 years presented neurocognitive disorders. The more frequent clinical findings were cryptorchidism in prepubertal patients; small testes, cryptorchidism and gynecomastia in pubertal patients. All our patients in Tanner stage III or more presented small testes. FSH and LH levels were normal in prepubertal patients and increased abnormally at puberty. On the other hand, most adults consulted for small testes, infertility and gynecomastia. 43.6% of patients had decreased libido, sexual and/or ejaculatory dysfunction. In adults average height (178.8 ± 9.0 cm) and weight (83.6 ± 21.0 kg), were higher than in the normal population, however 8 patients (19%) had a height less tan 170 cm. There was 62.5% of overweight / obesity (BMI ≥ 25.0 kg/m²) in the whole group of adult patients. 35.2% had eunuchoid proportions. All patients had testicular hypotrophc, with a median testicular volume of 3.5 ml (range 1-8 ml). Total testosterone (TT) levels were normal in 45% of adult patients, showing significant correlation with age. All patients aged 40 or more years had subnormal TT levels. In patients who underwent semen analysis, severe oligospermia and azoospermia were found in 10.7% and 89.3% respectively. Bone mineral densitometry showed low bone mass in 46.4% of cases. No significant differences in the prevalence of osteopenia and osteoporosis were observed among patients with normal or subnormal TT.
Responsable: AR635.1 - FCVyS - Servicio de Información y Documentación


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Id: biblio-985531
Autor: Martínez Sánchez, Lina María; Álvarez Hernández, Luis Felipe; Ruiz Mejía, Camilo; Villegas Álzate, Juan Diego.
Título: Utilidad del cariotipo y la citometría de flujo en el mieloma múltiple / Utility of karyotype and flow cytometry in multiple myeloma
Fuente: Rev. cuba. hematol. inmunol. hemoter;34(3):1-16, jul.-set. 2018. tab.
Idioma: es.
Responsable: CU1.1 - Biblioteca Médica Nacional


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Id: biblio-946697
Autor: Fernandes, Anderson; Rocha, Marla Piumbini; Sampaio, Wagner Martins Santana.
Título: Mitotic activity of the brain ganglia in different subphases of the last larval instar of Melipona quadrifasciata lepeletier (Hymenoptera, apidae, meliponini) / Atividade mitótica do gânglio cerebral em diferentes fases do último instar larval de melipona quadrifasciata (hymenoptera, apidae, meliponini) / MITOTIC ACTIVITY OF THE BRAIN GANGLIA IN DIFFERENT SUBPHASES OF THE LAST LARVAL INSTAR OF MELIPONA QUADRIFASCIATA LEPELETIER (HYMENOPTERA, APIDAE, MELIPONINI)
Fuente: Biosci. j. (Online);30(5):1484-1487, sept./oct. 2014. ilus.
Idioma: en.
Resumen: In recent years, the number of cytogenetic studies on Melipona species has increased considerably. However, most cytogenetic techniques used for these studies require preparations with a great number of metaphase cells for reliable analysis of the karyotypes. The present study seeks to evaluate which subphase of the last larval instar of Melipona quadrifasciata Lepeletier provides the greatest number of metaphases, which is here considered a direct measure of mitotic activity. A total of 25 defecating larvae were selected based on the quantity of feces in their intestines, so as to maintain five larvae in each of the five different developmental subphases. The brain ganglia of each larva were extracted and used for cytogenetic preparation. The number of metaphase mitotic cells per preparation was counted. An analysis of variance (ANOVA) model, with Tukey's post hoc tests, was conducted. It was observed that larvae in the second subphase, defined here as the subphase in which feces were visible below the segment VII, provided the greatest number of metaphases. Therefore, it is the most appropriate developmental subphase for cytogenetic preparations of brain glanglia in M. quadrifasciata and possibly in other Melipona species.

Estudos citogenéticos envolvendo o gênero Melipona vêm aumentando nos últimos anos. Entretanto, a utilização de várias técnicas para o estudo do cariótipo exigem preparações com um grande número de células em metáfase para uma análise confiável das características citogenéticas das espécies. O presente estudo teve como principal objetivo avaliar, para Melipona quadrifasciata, o instar do desenvolvimento larval mais adequado para estudos citogenéticos, no que se refere à atividade mitótica. Foram selecionadas 25 larvas defecantes divididas em cinco subfases de acordo com a quantidade restante de fezes no intestino. Os gânglios cerebrais das larvas foram extraídos e utilizados para a obtenção dos cromossomos mitóticos metafásicos. O número de metáfases por lâmina foi contabilizado para cada indivíduo e os dados submetidos à análise de variância (ANOVA) e ao teste de TUKEY. Foi observado que larvas da segunda subfase, definidas aqui como a subfase na qual as fezes se encontram na altura do VII segmento apresentaram o maior número de metáfases. Logo, esta é a subfase mais indicada para obtenção de grande número de metáfases em células do gânglio cerebral de Melipona quadrifasciata e, possivelmente, para outras espécies do gênero Melipona.
Responsable: BR396.4



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