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1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 43(3): 104-109, jul.-sept. 2016. graf
Artigo em Espanhol | IBECS | ID: ibc-154818

RESUMO

Objetivos: La aparición de defectos congénitos produce una gran ansiedad en la familia y una enorme demanda asistencial. El objetivo principal radica en la redacción de las recomendaciones de buenas prácticas que sirvan de guía a los profesionales sanitarios para el diagnóstico clínico-genético de defectos congénitos. Metodología: El protocolo que proponemos contempla un modelo de actuación óptimo que incluye, la recogida de la información clínica inicial, la obtención de las muestras biológicas y los protocolos de actuación. Resultado: Se ha elaborado un modelo de historia clínica que ayude a la recogida de la información clínica pertinente. En la obtención de las muestras biológicas se aconseja la obtención de muestras fetales (de las 3 capas embrionarias) y muestras de los progenitores que serán procesarán teniendo en cuenta el algoritmo de actuación propuesto para el correcto diagnóstico genético del defecto congénito correspondiente. Conclusión: Esta guía recoge por primera vez, las recomendaciones de buenas prácticas para el diagnóstico genético de abortos con defectos congénitos


Aims: Congenital anomalies can cause anxiety within a family and high healthcare demand. The aim of this study was to write good practice recommendations to guide health professionals in the clinical-genetic diagnosis of congenital defects. Methods: The proposed protocol focuses on an optimal case scenario that includes collection of initial clinical data, biological sampling, and diagnostic algorithms. Results: A model of the optimal clinical history form was created to facilitate the collection of initial clinical data. For sampling, it is recommended to obtain at least one fetal sample (of the three embryonic germ layers). Moreover, samples from both parents should be taken to exclude mosaicism, following the diagnostic algorithm proposed for the correct genetic diagnosis of the corresponding congenital defect. Conclusion: This document is the first to gather good practice recommendations for the pre- and post-natal genetic diagnosis of miscarriages and abortions due to congenital defects


Assuntos
Humanos , Anormalidades Congênitas/genética , Aborto , Feto Abortado/anormalidades , Protocolos Clínicos , Padrões de Prática Médica , Algoritmos
2.
J Clin Endocrinol Metab ; 95(4): 1876-88, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20150575

RESUMO

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.


Assuntos
Disgenesia Gonadal 46 XY/genética , Receptores Androgênicos/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Adolescente , Criança , Pré-Escolar , Éxons/genética , Feminino , Fibroblastos/metabolismo , Disgenesia Gonadal 46 XY/patologia , Heterozigoto , Humanos , Lactente , Íntrons/genética , Masculino , Mutação/genética , Mutação/fisiologia , Fenótipo , Receptores Androgênicos/sangue , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Comportamento Sexual , Testículo/patologia
3.
Br J Cancer ; 99(10): 1718-25, 2008 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-19002188

RESUMO

Phosphatase PRL-3 has been involved in different types of cancer, especially in metastases from colorectal carcinoma (CRC). In this study, we explored both isoforms of PRL-3 as a biomarker to predict the recurrence of stage IIIB-C CRC. Overexpression of PRL-3 was investigated in primary human colorectal tumours (n=20) and hepatic metastases (n=36) xenografted in nude mice, samples characterised by absence of human non-tumoral cells, showing a high degree of expression in metastases (P=0.001). In 27 cases of matched normal colonic mucosa/primary tumour/hepatic metastases, PRL-3 overexpression occurs in primary tumours vs normal mucosa (P=0.001) and in hepatic metastases vs primary tumours (P=0.045). Besides, our results in a series of 80 stage IIIB-C CRC primary tumours showed that high levels of PRL-3 were an independent predictor of metastasis (P<0.0001; OR: 9.791) in multivariate analysis of a binary logistic regression and that PRL-3 expression tightly correlates with parameters of bad outcome. Moreover, PRL-3 expression associated with poor outcome in univariate (P<0.0001) and multivariate Cox models (hazard ratio: 3.322, 95%, confidence interval: 1.405-7.852, P=0.006). In conclusion, PRL-3 is a good marker of aggressiveness of locally advanced CRS and a promising predictor of distant metastases. Nevertheless, for prognosis purposes, it is imperative to validate the cutoff value of PRL-3 expression in a larger and consecutive series and adjuvant setting.


Assuntos
Biomarcadores Tumorais/biossíntese , Neoplasias Colorretais/metabolismo , Neoplasias Colorretais/patologia , Neoplasias Hepáticas Experimentais/metabolismo , Proteínas de Neoplasias/biossíntese , Proteínas Tirosina Fosfatases/biossíntese , Animais , Modelos Animais de Doenças , Feminino , Humanos , Neoplasias Hepáticas Experimentais/secundário , Masculino , Camundongos , Camundongos Nus , Prognóstico , Ensaios Antitumorais Modelo de Xenoenxerto
4.
Proc Natl Acad Sci U S A ; 104(1): 276-81, 2007 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-17190815

RESUMO

Nuclear functions for IkappaB kinase (IKK), including phosphorylation of histone H3 and nuclear corepressors, have been recently described. Here, we show that IKK is activated in colorectal tumors concomitant with the presence of phosphorylated SMRT (silencing mediator of retinoic acid and thyroid hormone receptor) corepressor that is aberrantly localized in the cytoplasm. In these tumors, IKKalpha associates to the chromatin of specific Notch targets, leading to the release of SMRT. Abrogation of IKK activity by BAY11-7082 or by expressing dominant negative IKKalpha restores the association of SMRT with Notch target genes, resulting in specific gene repression. Finally, BAY11-7082 significantly reduces tumor size in colorectal cancer xenografts (CRC-Xs) implanted in nude mice.


Assuntos
Núcleo Celular/enzimologia , Neoplasias Colorretais/genética , Regulação Neoplásica da Expressão Gênica , Quinase I-kappa B/fisiologia , Receptores Notch/fisiologia , Animais , Linhagem Celular , Ativação Enzimática , Humanos , Masculino , Camundongos , NF-kappa B/fisiologia , Nitrilas/farmacologia , Fosforilação , Proteínas Repressoras/fisiologia , Sulfonas/farmacologia
8.
Genet Couns ; 14(1): 57-65, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12725590

RESUMO

X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. Clinically the spectrum ranges from males with lethal congenital hydrocephalus to mild/moderate mental retardation and spastic paraplegia. Few carrier females show minimal signs of the syndrome. Although most cases are familial, de novo situations have been reported. We report two new families with the syndrome and a L1 mutation. Family 1 has two patients and family 2 a single patient. Clinical diagnosis in all three affected boys was beyond doubt. Prenatal testing through chorionic villus biopsy is possible only with a demonstrated L1 mutation. In lethal sporadic cases neuropathology is very important in order to evaluate for features of the syndrome. We stress the importance of further clinical reports including data on neuropathology and DNA analysis in order to further understand the mechanisms involved in this disorder.


Assuntos
Mapeamento Cromossômico , Cromossomos Humanos X , Códon sem Sentido/genética , Testes Genéticos , Hidrocefalia/genética , Deficiência Intelectual/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Paraplegia/genética , Criança , Pré-Escolar , Amostra da Vilosidade Coriônica , Feminino , Triagem de Portadores Genéticos , Humanos , Lactente , Masculino , Fenótipo , Gravidez
9.
Acta pediatr. esp ; 61(4): 203-204, abr. 2003.
Artigo em Espanhol | IBECS | ID: ibc-111046

RESUMO

Se describe un caso de síndrome PFAPA en un niño de 4 años. Este síndrome consiste en episodios de fiebre periódica, estomatitis aftosa, faringitis y linfadenopatía cervical. Aunque es un proceso benigno, se acompaña de gran morbilidad y alto componente de ansiedad familiar, debido a que los episodios recurren periódicamente (AU)


A case of PFAPA syndrome in a 4-year-old boy is presented. The syndrome consists of periodic fever, aphthous stomatitis, pharyngitis and adenopathy. The disorder is benign, but is associated with a high morbidity rate. Ultimately, there is a progressive decrease in the incidence of periodic fever (AU)


Assuntos
Criança , Humanos , Estomatite Aftosa/classificação , Estomatite Aftosa/complicações , Estomatite Aftosa/diagnóstico , Febre/complicações , Faringite/complicações
11.
Am J Med Genet ; 102(2): 200-4, 2001 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-11477616

RESUMO

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.


Assuntos
Deficiência Intelectual/genética , Cromossomo X/genética , Mapeamento Cromossômico , Saúde da Família , Feminino , Ligação Genética , Humanos , Deficiência Intelectual/patologia , Escore Lod , Masculino , Repetições de Microssatélites , Linhagem
12.
An Esp Pediatr ; 54(1): 78-80, 2001 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-11181200

RESUMO

Congenital depressed skull fracture is rare and in most cases its etiology remains unclear. We present a female newborn infant with a congenital depressed skull fracture and no evidence of antepartum or intrapartum traumatism. The baby had normal neurological status and the depressed fracture healed spontaneously in a few weeks. Based on our experience of this case and a literature review, we conclude that congenital depressed skull fractures should be managed conservatively if the skull depression is less than 2cm, there is no previous trauma, no local edema or hematoma, and if the neonate shows normal neurological status.


Assuntos
Fraturas Cranianas/congênito , Feminino , Humanos , Recém-Nascido , Remissão Espontânea , Fraturas Cranianas/patologia
13.
An. esp. pediatr. (Ed. impr) ; 54(1): 78-80, ene. 2001.
Artigo em Es | IBECS | ID: ibc-1923

RESUMO

Las fracturas craneales congénitas son un proceso poco frecuente cuya etiología queda en la mayoría de casos sin aclarar. Se presenta el caso de una recién nacida con fractura hundimiento craneal congénita, sin antecedente de traumatismo anteparto o intraparto, que evolucionó sin presentar ninguna sintomatología que, manteniendo una actitud expectante, presentó resolución espontánea de la fractura dentro de las primeras semanas de vida. Basándose en la experiencia de este caso y tras revisar la bibliografía sobre el tema la conclusión es que si no existe traumatismo previo, el recién nacido permanece neurológicamente asintomático, no hay signos locales de edema o hematoma y el hundimiento es menor de 2 cm, lo más recomendable consiste en una actitud expectante sin proceder a la reducción quirúrgica inmediata, ya que en estos casos la resolución espontánea es el resultado más probable (AU)


Assuntos
Recém-Nascido , Feminino , Humanos , Fraturas Cranianas , Remissão Espontânea
15.
Am J Med Genet ; 86(5): 492-6, 1999 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-10508994

RESUMO

Two brothers born to a healthy, consanguineous Spanish couple have a syndrome of Möbius sequence with involvement of cranial nerves V, VI, VII, IX, and XII, central nervous system malformations; characteristic face with creased earlobes, short philthrum, and a short, arched upper lip, skeletal anomalies with short sternum and delayed bone maturation, hypogenitalism, and profound mental retardation. We suggest that this is a new multiple congenital anomalies condition and mental retardation (MCA/MR) syndrome with autosomic recessive inheritance.


Assuntos
Anormalidades Múltiplas/genética , Osso e Ossos/anormalidades , Encéfalo/anormalidades , Nervos Cranianos/anormalidades , Paralisia Facial/genética , Hipogonadismo/genética , Encéfalo/patologia , Criança , Consanguinidade , Nervos Cranianos/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Núcleo Familiar , Espanha , Síndrome
17.
18.
Am J Med Genet ; 69(4): 409-12, 1997 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-9098492

RESUMO

We describe a 1,000-g twin fetus with absent kidneys and ureters, anal atresia and minimal evidence of external genitalia, and hypoplastic lower limbs with absent feet. A postmortem arteriogram showed a large single umbilical artery in direct continuation with the abdominal aorta, a unique anomaly almost always related to sirenomelia. We discuss the possible diagnosis of this case as sirenomelia or caudal dysgenesis, and the controversy as to whether they are two related or separate entities.


Assuntos
Anormalidades Múltiplas/patologia , Ectromelia , Artérias Umbilicais/anormalidades , Evolução Fatal , Humanos , Recém-Nascido , Masculino
20.
Prenat Diagn ; 15(9): 859-63, 1995 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-8559758

RESUMO

A large intrapericardial teratoma was found at necropsy in a 38-week stillborn fetus, in which prenatal diagnosis of hydrops fetalis and an echogenic cardiac mass had been made. Clinical and pathological data are reported. In utero intrapericardial teratomata lead to different outcomes depending on whether fetal hydrops is associated. When generalized fetal hydrops is not present, the outcome is good, even in cases with large pericardial effusions. When generalized fetal hydrops occurs, it often results in a poor outcome. In our literature review, we have found eight perinatal deaths in nine similar cases reported.


Assuntos
Doenças Fetais/diagnóstico por imagem , Neoplasias Cardíacas/complicações , Hidropisia Fetal/complicações , Pericárdio , Teratoma/complicações , Adulto , Cordocentese , Feminino , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Hidropisia Fetal/diagnóstico por imagem , Masculino , Pericárdio/diagnóstico por imagem , Pericárdio/patologia , Gravidez , Teratoma/diagnóstico por imagem , Ultrassonografia Pré-Natal
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