Congenital Syndromes
Mostrando 1-12 de 89 artigos, teses e dissertações.
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1. Primary immunodeficiencies: a diagnostic challenge?
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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2. Inborn errors of immunity associated with characteristic phenotypes
Abstract Objectives: The aim of the report is to describe the main immunodeficiencies with syndromic characteristics according to the new classification of Inborn Errors of Immunity. Data source: The data search was centered on the PubMed platform on review studies, meta-analyses, systematic reviews, case reports and a randomized study published in the las
J. Pediatr. (Rio J.). Publicado em: 2021-04
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3. Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be n
Int. J. Cardiovasc. Sci.. Publicado em: 2020-07
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4. Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil
Resumo: Objetivo: Identificar as causas da microcefalia congênita no Rio Grande do Sul, Região Sul do Brasil, onde não foi detectado surto de ZIKV, de dezembro de 2015 a dezembro de 2016. Esse foi o período em que a infecção por ZIKV estava em seu auge no Nordeste do Brasil. Métodos: Este é um estudo transversal no qual todas as notificações de m
J. Pediatr. (Rio J.). Publicado em: 28/10/2019
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5. Correlation between cephalic circumference at birth and ocular alterations in patients with microcephaly potentially associated with Zika Virus infection
RESUMO: INTRODUÇÃO: O vírus Zika (ZIKV) é um arbovírus isolado pela primeira vez no ano de 1947, sendo transmitido para o homem pelo mosquito Aedes aegypti. No Brasil foi detectado pela primeira vez em maio de 2015. Desde então, ZIKV foi identificado como o agente etiológico da doença exantemática aguda no Brasil, e neuropediatras do Recife deram o
Rev. Assoc. Med. Bras.. Publicado em: 22/07/2019
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6. Neurologic manifestations in emerging arboviral diseases in Rio de Janeiro City, Brazil, 2015-2016
Abstract INTRODUCTION Dengue has affected Rio de Janeiro City since the 1980s. The sequential Zika and chikungunya virus introductions during 2015 aggravated the health scenario, with 97,241 cases of arboviral diseases reported in 2015-2016, some with neurological disorders. METHODS Arbovirus-related neurologic cases were descriptively analyzed, includin
Rev. Soc. Bras. Med. Trop.. Publicado em: 2018-06
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7. Prevalence of Café-au-Lait Spots in children with solid tumors
Abstract Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated with other congenital anomalies as part of many syndromes. Most of these syndromes carry an increased risk of cancer development. Previous studies hav
Genet. Mol. Biol.. Publicado em: 24/05/2016
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8. Aplasia cutis congenita of the scalp- what are the steps to be followed? Case report and review of the literature
Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter tumor, with a central crust, no
An. Bras. Dermatol.. Publicado em: 2015-02
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9. New microdeletion and microduplication syndromes: a comprehensive review
Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies (MCA), autistic spectrum disorders (ASD) and other phenotypic findings. In this paper, we review the "new" and emergent microdeletion a
Genet. Mol. Biol.. Publicado em: 2014
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10. Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies
The increased speed and decreasing cost of sequencing, along with an understanding of the clinical relevance of emerging information for patient management, has led to an explosion of potential applications in healthcare. Currently, SNP arrays and Next-Generation Sequencing (NGS) technologies are relatively new techniques used to scan genomes for gains and l
Genet. Mol. Biol.. Publicado em: 2014
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11. Karyotypic and fluorescent in-situ hybridization study of the centromere of chromosome 7 in secondary myeloid neoplasms
BACKGROUND: Secondary myeloid neoplasms comprise a group of secondary diseases following exposure to myelotoxic agents or due to congenital diseases. The improvement of anticancer agents and immunosuppressive drugs seem to be associated with an increased incidence of secondary myeloid neoplasms. Karyotyping of bone marrow is essential for diagnosis and progn
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2011-12
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12. Investigação de alterações cromossômicas em pacientes com malformação do corpo caloso / Investigation of chromosomal abnormalities in patients with corpus callosum malformations
O corpo caloso é a maior comissura cerebral, responsável pela conexão entre os hemisférios cerebrais. Anatomicamente está localizado na profundidade da fissura inter-hemisférica e é dividido em quatro regiões: esplênio, corpo, joelho e rostro, que se continua inferiormente na lamina rostralis. A malformação do corpo caloso (MCC) representa uma des
Publicado em: 2010