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1.
Brain Struct Funct ; 2024 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-38546870

RESUMO

The study of the brain by magnetic resonance imaging (MRI) allows to obtain detailed anatomical images, useful to describe specific encephalic structures and to analyze possible variabilities. It is widely used in clinical practice and is becoming increasingly used in veterinary medicine, even in exotic animals; however, despite its potential, its use in comparative neuroanatomy studies is still incipient. It is a technology that in recent years has significantly improved anatomical resolution, together with the fact that it is non-invasive and allows for systematic comparative analysis. All this makes it particularly interesting and useful in evolutionary neuroscience studies, since it allows for the analysis and comparison of brains of rare or otherwise inaccessible species. In the present study, we have analyzed the prosencephalon of three representative sauropsid species, the turtle Trachemys scripta (order Testudine), the lizard Pogona vitticeps (order Squamata) and the snake Python regius (order Squamata) by MRI. In addition, we used MRI sections to analyze the total brain volume and ventricular system of these species, employing volumetric and chemometric analyses together. The raw MRI data of the sauropsida models analyzed in the present study are available for viewing and downloading and have allowed us to produce an atlas of the forebrain of each of the species analyzed, with the main brain regions. In addition, our volumetric data showed that the three groups presented clear differences in terms of total and ventricular brain volumes, particularly the turtles, which in all cases presented distinctive characteristics compared to the lizards and snakes.

4.
Rev. argent. mastología ; 33(121): 438-447, dic. 2014. graf
Artigo em Espanhol | LILACS | ID: lil-777880

RESUMO

Resumen: Introducción: Observamos que el compromiso axilar es uno de los factores de pronóstico más importantes. Aunque la asociación entre el compromiso axilar y el tamaño tumoral ha sido estudiada en varias series, la relación del subtipo según la inmunohistoquímica (IHQ) para predecir compromiso axilar, no es muy conocida. El objetivo de este estudio es correlacionar los subtipos intrínsecos según la IHQ con la afectación axilar. Como objetivos secundarios evaluamos la sobrevida global y libre de enfermedad. Material y métodos: Se incluyeron en este estudio 1.413 pacientes operadas en forma consecutiva en el Hospital Italiano de Buenos Aires con diagnóstico de cáncer de mama primario (se excluyeron los estadios IV) entre los años 2007 y 2012. Fueron analizados los datos clínicos y patológicos de las pacientes que realizaron la biopsia del ganglio centinela o la linfadenectomía axilar. Los subtipos se clasificaron en cuatro grupos según la IHQ: luminal A (RE+, RP+, HER–, Ki67 <15%); luminal B (RE+, RP+, HER+, Ki67 >14%); HER2 (RE–, RP–, HER+); y triple negativo (RE–, RP–, HER–). Resultados: Evaluamos 1.413 pacientes de las cuales se analizaron 1.248 casos, donde 386 casos (31%) mostraron metástasis en los ganglios axilares. Tomando como referencia al grupo luminal A encontramos que la presencia de compromiso axilar es significativo en aquellos subtipos luminal B y HER (p<0,0001), no así en el subtipo TN (p=0,4468). Mediante un modelo de regresión logística múltiple se evaluó la probabilidad de compromiso axilar ajustado por cada uno de los diferentes subtipos tumorales, tamaño tumoral. En aquellos tumores menores de 2 cm observamos que los tumores luminal B y los TN aumentan el riesgo de compromiso axilar con un OR=2,73 (95% IC: 1,73-4,31; p>0,000), y un OR=2,05 (95% IC: 1,13-3,70; p=0,017), respectivamente, y los tumores HER2 aumentan el riesgo con un OR=6,62 (95% IC: 3,02-14,50; p>0,000).


Assuntos
Neoplasias da Mama , Gânglios , Metástase Neoplásica
5.
Transplant Proc ; 46(9): 3076-8, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25420826

RESUMO

BACKGROUND: The use of expanded criteria for donors to expand the donor pool has increased the number of discarded liver grafts in situ. The aim of our study was to elaborate a prediction model to reduce the percentage of liver grafts discarded before the procuring team is sent out. METHODS: We analyzed the donor factors of 244 evaluated candidates for liver donation. We performed a multiple logistic regression to evaluate the probability of liver grafts discarded (PD). RESULTS: The PD was determined by use of 3 variables: age, pathological ultrasonography, and body mass index >30. The area under curve was 82.7%, and, for a PD of 70%, the false-positive probability was 1.2%. CONCLUSIONS: We have created a useful clinical prediction model that could avoid up to 20% of discarded liver grafts.


Assuntos
Transplante de Fígado , Obtenção de Tecidos e Órgãos , Adulto , Idoso , Aloenxertos , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Curva ROC , Doadores de Tecidos , Transplantes
7.
Med. cután. ibero-lat.-am ; 39(2): 56-59, mar.-abr. 2011. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-93570

RESUMO

La Sarcoidosis es una enfermedad multisistémica que se caracteriza histológicamente por existencia de granulomas epiteliodes sin necrosis caseosa. Laafectación cutánea aparece en un 20-35% de los pacientes con sarcoidosis sistémica pero también puede aparecer como única manifestación de laenfermedad. Describimos un paciente afecto de sarcoidosis cutánea sin afectación sistémica. Las lesiones cutáneas no respondieron tras varios tratamientostópicos y sistémicos y finalmente respondieron a metotrexato. Revisamos las diferentes opciones en el tratamiento de la sarcoidosis cutánea (AU)


Sarcoidosis is a multisystemic disorder characterized histollogically by epithelioid granulomas without caseating necrosis. Cutaneous involvementoccurs in 20-35% of patients with systemic sarcoidosis and may occur without systemic involvement. A patient with cutaneous sarcoidosis, withoutsystemic involvement is reported. Cutaneous lesions do not responsive to various forms of topical and systemic treatment and finally were responsiveto metotrexate. We review treatment options for cutaneous sarcoidosis (AU)


Assuntos
Humanos , Sarcoidose/tratamento farmacológico , Dermatopatias/tratamento farmacológico , Metotrexato/uso terapêutico , Granuloma/tratamento farmacológico , Diagnóstico Diferencial
8.
Rev. argent. mastología ; 29(102): 33-42, abr. 2010.
Artigo em Espanhol | LILACS | ID: lil-561522

RESUMO

Objetivo: el objetivo de este trabajo es presenter la experiencia en ganglio centinela (GC) del Sector Patología del Servicio de Ginecología del Hospital Italiano de Buenos Aires en 11 años (junio 1997 / junio 2008). Material y métodos: se evaluaron retrospectivamente las historias clínicas de las pacientes operadas por cáncer de mama estadio I y II con axila clínicamentes negativa. Hasta julio de 2009 hemos efectuado 1.032 procedimientos; 147 procedimientos que conforman el período de aprendizaje y mejoramiento del método, siempre seguida la biopsia del GC de vaciamiento axilar (06/1997 - 12/2001), y 885 en los cuales no se efectuó linfadenectomía axilar al resultar negativo el GC. A los fines de tener un seguimiento adecuado de la población analizamos 638 procedimientos realizados en 630 pacientes. Resultados: el tamaño tumoral promedio en carcinoma invasor fue 12mm (2-36mm). El ganglio centinela se halló en 623 casos (tasa de detección 97,64%). El promedio de ganglios obtenidos por procedimiento fue 1,86 (rango 1-5). De los 623 casos de GC hallado, 90 casos (14,4%) mostraron compromiso tumoral en el GC [76 casos de macrometástasis (84,44%), 13 casos micrometástasis (14,4%), y 1 caso de células tumorales aisladas (1,1%)]. En 42 de 44 casos (95,45%) de metástasis masiva en el GC, hubo ganglios no centinela comprometidos. Estos mismo se observó en 25 de 32 casos de macrometástasis sin compromiso masivo (78,12%) y en 3 de 13 casos de micrometástasis (23,07%). En la impronta intraoperatoria, 14 casos resultaron ser positivos en el estudio diferido [FN 15,55% (IC 95%. 8,7%-25,0)]. El VPN de la impronta intraoperatoria de nuestra casuística fue 97,44% (IC 95%. 95,6-98,5). El VPP 100% (94,5-100). La sensibilidad de la impronta operatoria fue 84,44% (IC 95%: 75,57-90,05). Se registró una recaída axilar al año de la cirugía con ganglio centinela negativo (0,18%) con una medida de seguimiento de 46 meses (12-84 meses).


Assuntos
Neoplasias da Mama , Gânglios , Biópsia de Linfonodo Sentinela
9.
Rev. argent. mastología ; 29(102): 33-42, abr. 2010.
Artigo em Espanhol | BINACIS | ID: bin-125636

RESUMO

Objetivo: el objetivo de este trabajo es presenter la experiencia en ganglio centinela (GC) del Sector Patología del Servicio de Ginecología del Hospital Italiano de Buenos Aires en 11 años (junio 1997 / junio 2008). Material y métodos: se evaluaron retrospectivamente las historias clínicas de las pacientes operadas por cáncer de mama estadio I y II con axila clínicamentes negativa. Hasta julio de 2009 hemos efectuado 1.032 procedimientos; 147 procedimientos que conforman el período de aprendizaje y mejoramiento del método, siempre seguida la biopsia del GC de vaciamiento axilar (06/1997 - 12/2001), y 885 en los cuales no se efectuó linfadenectomía axilar al resultar negativo el GC. A los fines de tener un seguimiento adecuado de la población analizamos 638 procedimientos realizados en 630 pacientes. Resultados: el tamaño tumoral promedio en carcinoma invasor fue 12mm (2-36mm). El ganglio centinela se halló en 623 casos (tasa de detección 97,64%). El promedio de ganglios obtenidos por procedimiento fue 1,86 (rango 1-5). De los 623 casos de GC hallado, 90 casos (14,4%) mostraron compromiso tumoral en el GC [76 casos de macrometástasis (84,44%), 13 casos micrometástasis (14,4%), y 1 caso de células tumorales aisladas (1,1%)]. En 42 de 44 casos (95,45%) de metástasis masiva en el GC, hubo ganglios no centinela comprometidos. Estos mismo se observó en 25 de 32 casos de macrometástasis sin compromiso masivo (78,12%) y en 3 de 13 casos de micrometástasis (23,07%). En la impronta intraoperatoria, 14 casos resultaron ser positivos en el estudio diferido [FN 15,55% (IC 95%. 8,7%-25,0)]. El VPN de la impronta intraoperatoria de nuestra casuística fue 97,44% (IC 95%. 95,6-98,5). El VPP 100% (94,5-100). La sensibilidad de la impronta operatoria fue 84,44% (IC 95%: 75,57-90,05). Se registró una recaída axilar al año de la cirugía con ganglio centinela negativo (0,18%) con una medida de seguimiento de 46 meses (12-84 meses).(AU)


Assuntos
Neoplasias da Mama , Gânglios , Biópsia de Linfonodo Sentinela
10.
Eur J Contracept Reprod Health Care ; 8(3): 129-34, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-14667322

RESUMO

OBJECTIVE: To compare the influence of oral hormonal contraceptives (OCs) and the use of intrauterine contraceptive devices (IUDs) on the modification of sexual desire. MATERIALS AND METHODS: A prospective observational study of 1073 women using OCs or an IUD at the Family Planning Center 'Marina Alta' in Alicante, Spain. In order to evaluate the relative risk regarding the decrease in libido attributed to each contraceptive method, a logistic regression analysis was undertaken which considered the factors of age adjustment, level of studies, family planning information, relationship with partner, age when sexual relationships were initiated, parity, contraceptive method previously used and the duration of use of the contraceptive method. RESULTS: No differences in the decrease of sexual desire were observed between the use of the OC and IUD (odds ratio (OR) 1.32; 95% confidence interval (CI) 0.70-2.49), yet differences were noted, however, in relation to age (OR 1.05; 95% CI 1.01-1.10). Although these differences were not statistically significant, a high level of awareness regarding family planning was shown to increase sexual desire when compared to a lower level of information on this subject (OR 0.64; 95% CI 0.41-1.01). Sexual desire was seen to decrease if the quality of the relationship with the partner was average (OR 2.24; 95% CI 1.36-3.69) or poor (OR 4.69; 95% CI 1.93-11.4). Nulliparous women showed a greater decrease in sexual desire in relation to women who had already given birth (OR 1.57; 95% CI 1.00-2.47). Sexual desire was greater if the contraceptive method had already been in use for 6-12 months (OR 0.41; 95% CI 0.17-0.98). CONCLUSIONS: Sexual desire does not vary in relation to the use of OCs or IUDs, yet it does decrease with age, in nulliparous women and in those with an average or poor relationship with their partner. Furthermore, sexual desire shows an increase between the first 6 and 12 months of contraceptive treatment.


Assuntos
Coito/psicologia , Comportamento Contraceptivo/psicologia , Anticoncepção/psicologia , Anticoncepcionais Orais , Dispositivos Intrauterinos , Adolescente , Adulto , Fatores Etários , Anticoncepção/estatística & dados numéricos , Feminino , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Razão de Chances , Estudos Prospectivos , Fatores de Risco , Fatores de Tempo , Saúde da Mulher
11.
Eur J Gynaecol Oncol ; 24(2): 202-3, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12701980

RESUMO

A case of müllerian adenosarcoma with sarcomatous overgrowth in a postmenopausal 66-year-old female patient after adjuvant tamoxifen treatment for breast carcinoma is described. The patient was asymptomatic and the neoplasm was detected by pelvic sonography. The diagnosis was based on the histological findings after curettage and complementary total hysterectomy with bilateral salpingo-oophorectomy. The association of tamoxifen use and development of mesenchymal neoplasms is discussed.


Assuntos
Adenossarcoma/induzido quimicamente , Antineoplásicos Hormonais/efeitos adversos , Carcinoma Ductal de Mama/tratamento farmacológico , Tamoxifeno/efeitos adversos , Neoplasias Uterinas/induzido quimicamente , Adenossarcoma/patologia , Idoso , Antineoplásicos Hormonais/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Feminino , Humanos , Pós-Menopausa , Tamoxifeno/uso terapêutico , Neoplasias Uterinas/patologia
12.
Prog. obstet. ginecol. (Ed. impr.) ; 46(2): 53-58, feb. 2003. tab, graf
Artigo em Es | IBECS | ID: ibc-19689

RESUMO

Objetivo: Estudiar los resultados perinatales en las gestantes adolescentes de la Comunidad Valenciana. Material y métodos: Estudio epidemiológico descriptivo de los 104 embarazos en 98 gestantes adolescentes que ocurrieron en un período de 5 años (entre junio de 1995 y mayo de 2000) en la comarca de la Marina Alta, en la provincia de Alicante, de la Comunidad Valenciana. Estudiamos la vía del parto, la edad gestacional, el sexo, el peso, la talla, el perímetro cefálico, el índice de Apgar y el tipo de lactancia utilizada. Resultados: Se produjeron 89 partos por vía vaginal (85,57 por ciento) y se practicaron 15 cesáreas (14,42 por ciento). La edad gestacional media fue de 39,8 ñ 1,8 semanas. Un total de 50 partos fueron varones (48,07 por ciento) y 54 mujeres (51,93 por ciento). El peso medio fue de 3.210,4 ñ 438,6 g; la talla media fue de 49,1 ñ 2 cm, y el perímetro encefálico medio fue de 34,3 ñ 1,4 cm. La valoración del test de Apgar en el primer minuto fue de 8-10 puntos y a los 5 min de 10. El tipo de lactancia utilizado fue en 85 pacientes (81,73 por ciento) materna y en 19 (18,27 por ciento) artificial. Conclusiones: La cesárea se practica en casos excepcionales y en menor proporción a los estudios revisados. El porcentaje de recién nacidos de bajo peso es muy inferior, y la vitalidad de los recién nacidos de nuestra comunidad es mayor a la referenciada en otras poblaciones. La lactancia materna es utilizada por las gestantes adolescentes en un porcentaje similar a la población general (AU)


Assuntos
Adolescente , Gravidez , Feminino , Humanos , Gravidez na Adolescência/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Aleitamento Materno/estatística & dados numéricos , Peso ao Nascer , Índice de Apgar , Cefalometria/estatística & dados numéricos , Cesárea/estatística & dados numéricos , Parto Normal/estatística & dados numéricos
13.
Eur J Gynaecol Oncol ; 23(6): 501-4, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12556091

RESUMO

We studied the influence of the FIGO clinical stage on the prognosis of 114 patients with early stages of uterine cervix carcinoma who had been treated with radical surgery in the "La Fe" Maternity Hospital in Valencia between 1971 and 1989. The prognosis became worse with each clinical stage, in line with the fact that the more advanced clinical stages are more likely to have certain types of spread, larger tumours and a greater stromal invasion depth. However, the Cox regression adjustment of the variables predicting disease-free and survival intervals, including the clinical stage and preoperative and postoperative treatment, did not reveal a significant link between clinical stage and the prognostic indices studied, while postoperative treatment variables showed a great predictive capacity, possibly due to the fact that the postoperative treatment used in more advanced stages is more aggressive.


Assuntos
Estadiamento de Neoplasias , Neoplasias do Colo do Útero/mortalidade , Neoplasias do Colo do Útero/patologia , Adenocarcinoma/mortalidade , Adenocarcinoma/patologia , Adulto , Idoso , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Intervalo Livre de Doença , Feminino , Humanos , Incidência , Metástase Linfática , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Prognóstico , Modelos de Riscos Proporcionais , Estudos Prospectivos , Espanha/epidemiologia , Análise de Sobrevida
14.
Microsc Res Tech ; 50(2): 169-75, 2000 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-10891881

RESUMO

The vascular bed of canine prostate was studied and detailed distinct vascular zones were visualized on corrosion casts by scanning electron microscopy. This study was performed because of scarce information about the zonal vascularization of the prostate gland in dogs. There are no studies for three-dimensional microvascular distribution of the capsular vessels and the capsular microvascular trabeculae. SEM (vascular corrosion casting method) was used to show 3D angioarchitecture of the prostate gland. The lobules on the dorsal and lateral surface of the gland were numerous but small. Their small size is probably due to the abundant blood supply in the region. Few but large ventral lobules were observed. Three prostatic zones were clearly defined: capsular, parenchyma, and urethral. The diameter of the venous blood vessel compared to arterial vessels of the capsule was smaller. Two types of arteries were observed in trabeculae: direct and branched. The direct arteries were straight, with only a few branches. The branched arteries contained many bifurcations, with the vessel's diameter decreasing gradually. The trabeculae capillary network formed loops, with frequent sphincter-like constrictions and pouch-like protuberances.


Assuntos
Cães/anatomia & histologia , Próstata/irrigação sanguínea , Animais , Artérias/ultraestrutura , Capilares/ultraestrutura , Molde por Corrosão , Masculino , Microscopia Eletrônica de Varredura , Veias/ultraestrutura
15.
Genomics ; 64(2): 203-10, 2000 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-10729227

RESUMO

Phenotypic and molecular analyses of patients with partial chromosome 21 monosomy enabled us to define a region, spanning 2.4 Mb between D21S190 and D21S226, associated with arthrogryposis, mental retardation, hypertonia, and several facial anomalies. The markers of the region were used to screen a total human PAC library (Ioannou, RZPD). We isolated 57 PACs, which formed primary contigs. EST clusters (UNIGENE collection) located in a 6-Mb interval, between D21S260 and D21S263, were mapped in individual bacterial clones. We mapped the WI-17843 cluster to the PAC clone J12100, which contains the two anchor markers LB10T and LA329. The open reading frame extends over 960 bp, with three putative start codons. The 1695-bp cDNA containing a polyadenylation signal should correspond to the full-length cDNA. From the genomic sequence, we deduced that the gene contained five exons and that there was a putative promoter sequence upstream from exon 1. In silico screening of DNA databases revealed similarity with a murine EST. The corresponding cDNA (1757 bp) sequence was very similar (>85%) to the human cDNA and had an open reading frame of 876 nucleotides. Somatic hybrid mapping localized the cDNA to mouse chromosome 16. EST analyses and RT-PCR indicated that the third exon in the human gene (exon 2 in the mouse) undergoes alternative splicing. Northern blot hybridization showed that the gene was ubiquitously expressed in humans and mice. The longest mouse clone was used to generate riboprobes, which were hybridized to murine embryos at stages E-9.5, E-10.5, E-12.5, E-13.5, and E-14.5-15, to study the pattern of expression during development. Ubiquitous labeling was observed, with strong signals restricted to limited areas of the telencephalon, the mesencephalon, and the interrhombomeric regions in the central nervous system, and other regions of the body such as the limb buds, branchial arches, and somites.


Assuntos
Cromossomos Humanos Par 21/genética , Monossomia , Fases de Leitura Aberta/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Northern Blotting , Mapeamento Cromossômico , DNA Complementar/genética , Embrião de Mamíferos/metabolismo , Expressão Gênica , Humanos , Camundongos , Dados de Sequência Molecular , Hibridização de Ácido Nucleico , Sondas de Ácido Nucleico , Fenótipo , Regiões Promotoras Genéticas , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Alinhamento de Sequência , Distribuição Tecidual
16.
J Microsc ; 195(Pt 2): 150-60, 1999 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10460679

RESUMO

In this study we compare the quality of vascular casts, obtained from organs of several animal species from different sources and sacrificed under different conditions. Organs from healthy animals were injected with two different polymers such as Mercox and Batson No. 17. When the specimens were observed under a scanning electron microscope structural elements such as endothelial nuclear impressions on vessels and capillaries, endothelial cell borders, venous valves, imprints of smooth muscle cells and intra-arterial cushions were identified. Organs excised post mortem from large animals can be used for microvascular corrosion casting studies with optimal results.


Assuntos
Anticoagulantes/farmacologia , Vasos Sanguíneos/ultraestrutura , Molde por Corrosão , Poliésteres/farmacologia , Resinas Sintéticas/farmacologia , Animais , Cães , Feminino , Cabras , Cavalos , Masculino , Microscopia Eletrônica de Varredura , Ovinos
17.
Rev. bras. mastologia ; 8(3): 112-8, set. 1998. tab
Artigo em Português | LILACS | ID: lil-224883

RESUMO

Neste trabalho é apresentada a casuística de carcinoma ductal in situ de mama do Hospital Italiano de Buenos Aires. Sao discutidos aspectos de diagnóstico e comentados os resultados em funçao das diferentes opçoes terapêuticas.


Assuntos
Humanos , Neoplasias da Mama , Carcinoma Intraductal não Infiltrante/diagnóstico , Carcinoma Intraductal não Infiltrante/terapia , Mastectomia/estatística & dados numéricos , Ultrassonografia Mamária
18.
Genomics ; 51(3): 417-26, 1998 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-9721212

RESUMO

Physical mapping across a duplication can be a tour de force if the region is larger than the size of a bacterial clone. This was the case of the 170- to 275-kb duplication present on the long arm of chromosome 21 in normal human at 21q11.1 (proximal region) and at 21q22.1 (distal region), which we described previously. We have constructed sequence-ready contigs of the two copies of the duplication of which all the clones are genuine representatives of one copy or the other. This required the identification of four duplicon polymorphisms that are copy-specific and nonallelic variations in the sequence of the STSs. Thirteen STSs were mapped inside the duplicated region and 5 outside but close to the boundaries. Among these STSs 10 were end clones from YACs, PACs, or cosmids, and the average interval between two markers in the duplicated region was 16 kb. Eight PACs and cosmids showing minimal overlaps were selected in both copies of the duplication. Comparative sequence analysis along the duplication showed three single-basepair changes between the two copies over 659 bp sequenced (4 STSs), suggesting that the duplication is recent (less than 4 mya). Two CpG islands were located in the duplication, but no genes were identified after a 36-kb cosmid from the proximal copy of the duplication was sequenced. The homology of this chromosome 21 duplicated region with the pericentromeric regions of chromosomes 13, 2, and 18 suggests that the mechanism involved is probably similar to pericentromeric-directed mechanisms described in interchromosomal duplications.


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 21/genética , Família Multigênica/genética , Polimorfismo Genético/genética , Linhagem Celular , Cromossomos Artificiais de Levedura/genética , Clonagem Molecular , Cosmídeos/genética , Ilhas de CpG/genética , Biblioteca Gênica , Ligação Genética/genética , Humanos , Modelos Genéticos , Dados de Sequência Molecular , Análise de Sequência de DNA , Sitios de Sequências Rotuladas
19.
Cytogenet Cell Genet ; 83(3-4): 262-5, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-10072600

RESUMO

We analyzed the conservation of large paralogous regions (more than 200 kb) on human chromosome regions 21q22.1 and 21q11.2 and on pericentromeric regions of chromosomes 2, 13, and 18 in three nonhuman primate species. Orthologous regions were found by FISH analysis of metaphase chromosomes from Gorilla gorilla, Pan troglodytes, and Pongo pygmaeus. Only one orthologous region was detected in chromosomes of P. pygmaeus, showing that the original locus was at 21q22.1 and that the duplication arose after the separation of Asian orangutans from the other hominoids. Surprisingly, the paralogous regions were more highly conserved in gorilla than in chimpanzee. PCR amplification of STSs derived from sequences of the chromosome 21 loci and low-stringency FISH analysis showed that this duplication occurred recently in the evolution of the genome. Different rates of sequence evolution through substitutions or deletions, after the duplication, may have resulted in diversity between closely related primates.


Assuntos
Centrômero/genética , Cromossomos Humanos Par 21/genética , DNA/genética , Duplicação Gênica , Primatas/genética , Animais , Evolução Molecular , Marcadores Genéticos , Gorilla gorilla/genética , Humanos , Hibridização in Situ Fluorescente , Linfócitos/citologia , Linfócitos/metabolismo , Pan troglodytes/genética , Mapeamento Físico do Cromossomo , Pongo pygmaeus/genética
20.
Genomics ; 43(1): 25-33, 1997 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-9226369

RESUMO

Deletion of genes from the chromosome 21 region between APP and SOD1 is a potential cause of some of the major phenotypic features of monosomy 21 patients. Fine physical mapping helps identify potential candidate genes. After selecting nonchimeric YACs by FISH analysis, we determined their marker contents by PCR and hybridization studies. Fifteen YACs were chosen and mapped by restriction enzyme analysis and labeling of end fragments. We localized 55 markers, including 31 STSs, 10 YAC ends, and 4 NotI linking clones, along a 6.7-Mb contig. This map facilitates transcriptional analysis of this region and construction of ready-to-sequence contigs. Furthermore, FISH mapping of two patients with partial monosomy 21 using YAC and cosmid clones allowed us to define more accurately the telomeric border of the critical region between markers S226 and S213.


Assuntos
Deleção Cromossômica , Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 21/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Sequência de Bases , Cromossomos Artificiais de Levedura , Clonagem Molecular , Cosmídeos , Primers do DNA/genética , Marcadores Genéticos , Humanos , Hibridização in Situ Fluorescente , Fenótipo , Reação em Cadeia da Polimerase , Mapeamento por Restrição , Sitios de Sequências Rotuladas , Telômero/genética
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