Search | SciELO

Need help?

Add field +

Search history

No documents were found for your search

Results: 15

au:Ribeiro, Erlane Marques

Filters

Collection + Options

All
Brazil

14
Public Health

1

Journal + Options

All
Epidemiologia e Serviços de Saúde

2
Genetics and Molecular Biology

2
Jornal de Pediatria

2
Revista Brasileira de Ginecologia e Obstetrícia

2
Arquivos de Neuro-Psiquiatria

1
Brazilian Journal of Nephrology

1
Journal of Venomous Animals and Toxins including Tropical Diseases

1
Revista Brasileira de Oftalmologia

1
Revista Brasileira de Saúde Materno Infantil

1
Revista da Associação Médica Brasileira

1
Revista da Sociedade Brasileira de Medicina Tropical

1

Language

All
Portuguese

8

Publication Year + Options

All
2018

4
2010

2
2004

1
2006

1
2011

1
2013

1
2014

1
2015

1
2017

1
2021

1
2023

1

SciELO Thematic Areas + Options

All
Health Sciences

12
Biological Sciences

2
Multidisciplinary

1

WoS Subject Categories + Options

All
Medicine

4
Pediatrics

3
Biochemistry

2
Biology

2
Care

2
General

2
Genetics

2
Gynecology

2
Health

2
Heredity

2
Internal

2
Molecular

2
Obstetrics

2
Policy

2
Sciences

2

Show all...

WoS Citation Index

All
Science Citation Index Expanded

9

Citables and non citables + Options

All
Citable

12
Non citable

3

Type of Literature + Options

All
Article

8
Letter

3
Case report

2
Review article

2

Order by

Page of 1 Next

Select this page

Print | Send to email | Export |

Facebook
Twitter
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

0 Selected itens

List all
Erase all

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Schwartz, Ida Vanessa Doederlein

; Quesada, Andrea Amaro

; Ribeiro, Erlane Marques

; Martins, Ana Maria

; Vilela, Daniel Reda Fenga

; Pessoa, André

Arquivos de Neuro-Psiquiatria

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jul 2023, Volume 81 N. 7 Pages 685 - 695

Abstract: En Pt | Text: En Pt | PDF: En | PDF: Pt

Abstract Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them from developing severe neurological damage and mental disabilities. However, between 20 and 30% of early-treated patients with PKU present focal cognitive deficits, including deficits in working memory, processing speed, and psychiatric symptoms such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD). Therefore, age-specific neuropsychiatric and cognitive tests are important components of PKU patient care. To date, there are no officially approved guidelines or recommendations of tools in Portuguese validated for use in Brazil that could be applied to assess these parameters in patients with PKU. Objective To recommend tools validated for use in Brazil that can be used in daily clinical practice to assess quality of life and neuropsychological outcomes in patients with PKU. Methods Six Brazilian experts discussed about eligible tools based on their clinical experience, the feasibility of their use in clinical routines, and their availability in public health services. Before the meeting, an independent review of the literature was conducted to identify the currently validated tools in Brazil, using the MEDLINE and SciELO databases. Results The experts recommended nine tools to assess quality of life (Peds-QL, SF-36 or WHOQOL-bref), executive function (BRIEF or Bayley-III), IQ (SONR 2½-7[a] or WASI) and ADHD (MTA-SNAP-IV and ASRS). Conclusions These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU.

Resumo Antecedentes A fenilcetonúria (PKU) é um erro inato do metabolismo causado pela atividade deficiente da fenilalanina hidroxilase. No Brasil, o Programa Nacional de Triagem Neonatal permite o tratamento precoce de pacientes com PKU, o que os impede de desenvolver danos neurológicos e deficiências intelectuais graves. No entanto, já foi descrito que de 20 a 30% dos pacientes tratados precocemente com PKU apresentam déficits cognitivos focais, incluindo déficits na memória de trabalho, velocidade de processamento e sintomas psiquiátricos como ansiedade, depressão e Transtorno de Déficit de Atenção e Hiperatividade (TDAH). Neste sentido, testes neuropsiquiátricos e cognitivos são componentes importantes no cuidado destes pacientes. Atualmente, não existe um compêndio científico ou recomendações de ferramentas validadas em português para avaliar a saúde mental em pacientes brasileiros com PKU. Objetivo Recomendar ferramentas validadas localmente para avaliar a qualidade de vida e aspectos neuropsicológicos de pacientes com PKU. Métodos Seis especialistas brasileiros discutiram as ferramentas mais apropriadas com base em suas experiências clínicas, a viabilidade de realizar as avaliações na rotina clínica, e o acesso às ferramentas na saúde pública. Antes da reunião, foi realizada uma revisão independente da literatura para identificar as ferramentas validadas no Brasil, utilizando as bases de dados MEDLINE e Scielo. Resultados Os especialistas recomendaram nove ferramentas para avaliar a qualidade de vida (Peds-QL, SF-36 ou WHOQOL-bref), função executiva (BRIEF ou Bayley-III), QI (SONR 2½-7[a] ou WASI) e TDAH (MTA-SNAP-IV e ASRS). Conclusões Estes instrumentos podem ser facilmente incorporados na prática clínica e melhorar a qualidade dos cuidados multidisciplinares dos pacientes com PKU.

https://doi.org/10.1055/s-0043-1768677

Neurological growth and development of children asymptomatic at birth whose mothers had Zika during pregnancy
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Maia, Ana Maria Peixoto Cabral

; Azevedo, Camila de Sousa Lins

; Oliveira, Rhaquel de Moraes Alves Barbosa de

; Barreto, Francisca Kalline Almeida

; Rodrigues, Adilina Soares Romeiro

; Simião, Adriana Rocha

; Gomes, Ileana Pitombeira

; Ribeiro, Erlane Marques

; Cavalcanti, Luciano Pamplona de Góes

Revista da Sociedade Brasileira de Medicina Tropical

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2021, Volume 54 elocation e01802020

Abstract: En | Text: En | PDF: En

Abstract INTRODUCTION: Newborn who had Zika vírus but did not show microcephaly at birth may have neuropsychomotor development problems. We aimed to evaluate the developmental and anthropometric milestones of asymptomatic children whose mothers had Zika during pregnancy in Northeastern Brazil in 2015 and 2016. METHODS: We conducted a descriptive cross-sectional case series study of children in Fortaleza born without microcephaly whose mothers had Zika during pregnancy. Home visits were undertaken to evaluate the developmental milestones and gather anthropometric data of the children and to conduct semi-structured interviews with the mothers to identify their socioeconomic and gestational profiles and assess the newborns after birth. RESULTS: In total, 30 cases were identified. Of these, 17 children and their mothers participated in the study. The median age of the mothers at the time of delivery was 26 years. All were symptomatic, and TORCH was negative. At the time of the home visit, all had growth profiles suitable for their age. However, nearly all children (15/17, 88.2%) presented at least one developmental delay, considering their age group. CONCLUSIONS: There were late changes in the neuropsychomotor development of children born to mothers who had Zika during pregnancy, suggesting the need for specialized medical follow-ups.

https://doi.org/10.1590/0037-8682-0180-2020 565 downloads

Answer - Abortion and Zika Virus Congenital Infection
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Mota, Vivian Maria Ribeiro

; Delfino, Alanna dos Santos

; Lopes, Thayse Elaine Costa Figueiredo

; Pessoa, André Luiz Santos

; Ribeiro, Erlane Marques

; Cavalcanti, Luciano Pamplona de Góes

Revista Brasileira de Ginecologia e Obstetrícia

Journal Metrics
- Sobre o periódico
- SciELO Analytics

aug 2018, Volume 40 N. 8 Pages 498 - 498

Abstract: En | Text: En | PDF: En

https://doi.org/10.1055/s-0038-1668532 419 downloads

Abortion in Cases of Zika Virus Congenital Infection
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Mota, Vivian Maria Ribeiro

; Cavalcanti, Luciano Pamplona de Góes

; Delfino, Alanna dos Santos

; Lopes, Thayse Elaine Costa Figueiredo

; Pessoa, André Luiz Santos

; Ribeiro, Erlane Marques

Revista Brasileira de Ginecologia e Obstetrícia

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jul 2018, Volume 40 N. 7 Pages 417 - 424

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Resumo A emergência provocada na saúde pública internacional por causa do vírus Zika trouxe à tona a discussão do aborto em casos de síndrome congênita de Zika. Portanto, propomos a realização de uma revisão bibliográfica sobre o aborto nesses casos. Foram pesquisados cinco bancos de dados utilizando os seguintes termos: aborto, aborto espontâneo, e zika, com interposição do operador booleano “E”. Na literatura selecionada, encontramos referências à falta de informações sobre os riscos e a gravidade da síndrome congénita de Zika, bemcomo ao grande sofrimento psicológico de mulheres grávidas e ao risco de aborto inseguro como justificativa para o aborto em casos de síndrome congênita de Zika. No entanto, é necessário ter testes disponíveis que possam diagnosticar, no primeiro trimestre da gravidez, que o feto foi afetada pelo vírus, e que ele pode ter limitações importantes, para subsidiar a discussão qualificada sobre o aborto nesses casos.

Abstract The emergency in international public health caused by the Zika virus gave rise to the discussion about abortion in cases of congenital Zika virus syndrome (CZS). Therefore, we propose to carry out a bibliographic review on abortion in these cases. Five databases were searched using the following terms: abortion, miscarriage, and zika, with the interposition of the Boolean operator “AND.” In the selected literature, we found references to the lack of information concerning the risks and severity of CZS, to the great psychological distress suffered by pregnant women, and to the risk of unsafe abortions as a justification for abortion in cases of CZS. However, it is necessary to have available tests that could diagnose, in the first trimester of pregnancy, that the fetus has been affected by the virus, and that it may have important limitations, in order to subsidize the qualified discussion about abortion in these cases.

https://doi.org/10.1055/s-0038-1648219 965 downloads

Triagem auditiva de crianças com síndrome congênita pelo vírus Zika atendidas em Fortaleza, Ceará, 2016
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Leite, Rebeka Ferreira Pequeno

; Santos, Marinisi Sales Aragão

; Ribeiro, Erlane Marques

; Pessoa, André Luiz Santos

; Lewis, Doris Ruthy

; Giacheti, Célia Maria

; Cavalcanti, Luciano Pamplona de Góes

Epidemiologia e Serviços de Saúde

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2018, Volume 27 N. 4 elocation e2017553

Abstract: Pt En Es | Text: Pt En Es | PDF: Pt | PDF: En | PDF: Es

Resumo Objetivo: descrever resultados da triagem auditiva em crianças com síndrome congênita pelo vírus Zika (SCZ) atendidas em Fortaleza, Ceará, Brasil. Métodos: estudo transversal descritivo envolvendo crianças com SCZ atendidas durante o II Mutirão de Zika, em Fortaleza, em dezembro de 2016; os exames realizados na triagem auditiva foram imitanciometria, emissões otoacústicas transientes (EOAT), reflexos acústicos e reflexo cócleo-palpebral (RCP). Resultados: foram incluídas 45 crianças com idade média de 10 meses. Destas, 44 realizaram triagem timpanométrica, das quais 16 se apresentaram dentro da normalidade na orelha direita e 22 na orelha esquerda. Entre as 43 crianças avaliadas pelas EOAT, 30 “passaram” nas duas orelhas, nove “falharam” nas duas orelhas e quatro “falharam” em uma orelha; 13/43 falharam, sendo necessário repetir a triagem. Das 43 crianças avaliadas pelo RCP, 37 apresentaram respostas presentes. Conclusão: a maioria das crianças apresentou função coclear íntegra e alterações de orelha média compatíveis com a faixa etária.

Abstract Objective: to describe the results of hearing screening performed in children with Congenital Zika Virus Syndrome (CZS) in Fortaleza, Ceará, Brazil. Methods: this was a descriptive cross-sectional study involving children with CZS receiving health care in Fortaleza, 2016; the hearing screening tests performed were immittance audiometry, transient otoacoustic emissions (TOAE), acoustic reflexes, and cochleopalpebral reflex (CPR). Results: The study included 45 children with an average age of 10 months. 44 of them underwent tympanometric screening, with 16 of these having the right ear within the normal range and 22 having the left ear within the normal range. Among the 43 children evaluated by TOAE, 30 "passed" in both ears, nine "refered" in both ears and four "refered" just in ear; 13/43 "refered" and needed to repeat screening. 43 children evaluated by CPR, 37 showed responses. Conclusion: most of the children evaluated had completed cochlear function and middle ear results refer in compatible with their age range.

Resumen Objetivo: describir los resultados de un cribado auditiva en niños con síndrome congénito del virus Zika (SCZ) en Fortaleza, Ceará, Brasil. Métodos: estudio transversal donde participaron niños con SCZ atendidos en Fortaleza, 2016; fueron evaluados mediante immittanciometría, emisiones otoacústicas transitorias (TEOAE), reflejos acústicos y reflejo cocleo-párpado. Resultados: 45 niños con una edad media de 10 meses; entre las 44 orejas del lado derecho, 16 niños se encontraban normal y 28 fallaron a la detección timpanométrica; para el oído izquierda, 22 niños estaban dentro del rango normal y 22 presentaban fallas; entre los 43 niños evaluados por TEOAE, 30 "pasaron" en ambas orejas, nueve "fallaron" en ambas y cuatro "fallaron" en una; 13/43 fallaron, necesitando repetir la clasificación; de los 43 niños evaluados mediante RCP, 37 presentaron las respuestas actuales. Conclusión: la mayoría de los niños tenían una función coclear completa y cambios en el oído medio compatibles con el grupo de edad.

https://doi.org/10.5123/s1679-49742018000400002 2801 downloads

Triagem auditiva de crianças com síndrome congênita pelo vírus Zika atendidas em Fortaleza, Ceará, 2016
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Leite, Rebeka Ferreira Pequeno

; Santos, Marinisi Sales Aragão

; Ribeiro, Erlane Marques

; Pessoa, André Luiz Santos

; Lewis, Doris Ruthy

; Giacheti, Célia Maria

; Cavalcanti, Luciano Pamplona de Góes

Epidemiologia e Serviços de Saúde

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2018, Volume 27 N. 4 elocation e2017553

Abstract: Pt En Es | Text: Pt En Es | PDF: Pt | PDF: En | PDF: Es

https://doi.org/10.5123/s1679-49742018000400002 39 downloads

From the perception of a cluster of cases of children with microcephaly to congenital Zika syndrome in Brazil: the lessons we have learned and the challenges that lie ahead of us
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Ribeiro, Erlane Marques

; Lopes, Thayse Figueiredo

; Kerbage, Sáile Cavalcante

; Pessoa, André Luis Santos

; Cavalcanti, Luciano Pamplona de Góes

Journal of Venomous Animals and Toxins including Tropical Diseases

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2017, Volume 23 elocation 15

Abstract: En | Text: En | PDF: En

https://doi.org/10.1186/s40409-017-0107-x 791 downloads

Maple syrup urine disease in Brazil: a panorama of the last two decades
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Herber, Silvani

; Schwartz, Ida Vanessa D.

; Nalin, Tatiéle

; Netto, Cristina Brinkmann Oliveira

; Camelo Junior, José Simon

; Santos, Mara Lúcia

; Ribeiro, Erlane Marques

; Schüler-Faccini, Lavinia

; Souza, Carolina Fischinger Moura de

Jornal de Pediatria

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jun 2015, Volume 91 N. 3 Pages 292 - 298

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

OBJETIVO: Caracterizar uma amostra de pacientes brasileiros com a doença da urina de xarope de bordo (DXB) diagnosticados entre 1992 e 2011. MÉTODOS: Os pacientes foram identificados por meio de um laboratório de referência nacional para o diagnóstico de DXB e por meio do contato com outros serviços de genética médica no Brasil. Os dados foram coletados por meio de uma revisão de prontuários. RESULTADOS: Foram incluídos no estudo 83 pacientes de 75 famílias (idade média: três anos; intervalo interquartil (IQR): 0,57-7). A idade média no surgimento dos sintomas era de 10 dias (IQR: 5-30), ao passo que a idade média no diagnóstico era de 60 dias (IQR: 29-240; p = 0,001). Somente três (3,6%) pacientes foram diagnosticados antes do surgimento de manifestações clínicas. Uma comparação entre pacientes com (n = 12) e sem (n = 71) um diagnóstico precoce mostra que o diagnóstico precoce está associado à presença de histórico familiar positivo e à redução na prevalência de manifestações clínicas no momento do diagnóstico, porém sem melhor resultado. Em geral, 98,8% dos pacientes têm algum atraso no desenvolvimento psicomotor ou neurológico. CONCLUSÃO: No Brasil, os pacientes com DXB normalmente recebem um diagnóstico tardio e exibem um envolvimento neurológico e baixa sobrevivência, mesmo com um diagnóstico precoce. Sugerimos que políticas públicas específicas para o diagnóstico e tratamento da DXB sejam desenvolvidas e implementadas no país.

OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical genetics services across Brazil. Data were collected by means of a chart review. RESULTS: Eighty-three patients from 75 families were enrolled in the study (median age, 3 years; interquartile range [IQR], 0.57-7). Median age at onset of symptoms was 10 days (IQR 5-30), whereas median age at diagnosis was 60 days (IQR 29-240, p = 0.001). Only three (3.6%) patients were diagnosed before the onset of clinical manifestations. A comparison between patients with (n = 12) and without (n = 71) an early diagnosis shows that early diagnosis is associated with the presence of positive family history and decreased prevalence of clinical manifestations at the time of diagnosis, but not with a better outcome. Overall, 98.8% of patients have some psychomotor or neurodevelopmental delay. CONCLUSION: In Brazil, patients with MSUD are usually diagnosed late and exhibit neurological involvement and poor survival even with early diagnosis. We suggest that specific public policies for diagnosis and treatment of MSUD should be developed and implemented in the country.

https://doi.org/10.1016/j.jped.2014.08.010 10987 downloads

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Dornelles, Alícia Dorneles

; Pinto, Louise Lapagesse de Camargo

; Paula, Ana Carolina de

; Steiner, Carlos Eduardo

; Lourenço, Charles Marques

; Kim, Chong Ae

; Horovitz, Dafne Dain Gandelman

; Ribeiro, Erlane Marques

; Valadares, Eugênia Ribeiro

; Goulart, Isabela

; Souza, Isabel C. Neves de

; Neri, João Ivanildo da Costa

; Santana-da-Silva, Luiz Carlos

; Silva, Luiz Roberto

; Ribeiro, Márcia

; Oliveira Sobrinho, Ruy Pires de

; Giuglianiand, Roberto

; Schwartz, Ida Vanessa Doederlein

Genetics and Molecular Biology

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2014, Volume 37 N. 1 Pages 23 - 29

Abstract: En | Text: En | PDF: En

Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ;±20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.

2668 downloads

10.

Síndrome de Hadju-Cheney: alterações renais em um relato de caso
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics
- Dimensions
- PlumX
- Altmetric

Dantas, Élida Lívia Rafael

; Pontes, Mário Lima

; Fernandes, Paula Francinetti Camurça Castelo Branco

; Ribeiro, Erlane Marques

; Daher, Elizabeth de Francesco

Brazilian Journal of Nephrology

Journal Metrics
- Sobre o periódico
- SciELO Analytics

jun 2013, Volume 35 N. 2 Pages 165 - 167

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

A síndrome de Hadju-Cheney é uma doença genética caracterizada por dismorfismos craniofaciais e alterações ósseas responsáveis pelo fenótipo da doença. As alterações renais, como cistos renais corticais, refluxo vesico - ureteral e falência renal, são raramente relatadas, mas são incluídas como apresentações menos comuns. O diagnóstico genético ainda não está disponível e a patogênese é relacionada a mutações no gene NOTCH. Os autores relatam um caso de um homem de 26 anos; porém, com características fenotípicas de um paciente pediátrico. Ele se apresentou com síndrome nefrótica, hipertensão arterial, cistos renais corticais e insuficiência renal aguda requerendo hemodiálise. A biopsia renal evidenciou glomeruloesclerose focal e segmentar e o tratamento para esse paciente foi de suporte com terapia hemodialítica. O diagnóstico da síndrome de Hadju-Cheney foi dado durante investigação do quadro renal.

Hajdu-Cheney disease is characterized by craniofacial dimorphisms and skeletal changes. Renal disturbs; such as renal cortical cysts, vesico-ureteral reflux and renal failure are rarely related but it is included as a less common feature. The diagnosis is not yet available and the pathogenesis it is related with mutations in the NOTCH gene. The authors report a case of a 26-years-old boy; but with phenotypic characteristics of a pediatric patient. He presented nephrotic syndrome, hypertension, renal cortical cysts, nephrotic range proteinuria and acute renal failure requiring hemodialysis. The renal tissue showed global and segmental glomerulosclerosis and the treatment to this patient it was supporting with hemodialysis. The diagnosis of Hadju-Cheney disease was given during investigation of renal function.

https://doi.org/10.5935/0101-2800.20130026 4135 downloads

11.

Síndrome Sjögren - Larsson
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Rabello, Leonardo Portela

; Aragão, Ricardo Evangelista Marrocos de

; Filha, Joana Gurgel Holanda

; Ribeiro, Erlane Marques

; Dias, Daniele Roma

; Rabello, Luciana Portela

Revista Brasileira de Oftalmologia

Journal Metrics
- Sobre o periódico
- SciELO Analytics

dec 2011, Volume 70 N. 6 Pages 416 - 418

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Relatam-se os casos de dois irmãos consanguíneos com síndrome de Sjögren- Larsson, enfatizando a importância clínica do exame oftalmológico. BPLS, masculino, 11 anos e MBLS, feminino, 10 anos, irmãos de pais não-consanguíneos, apresentando ictiose congênita, diplegia espástica e retardo mental. Ao exame oftalmológico, apresentavam miopia, fotofobia, baixa acuidade visual. A fundoscopia, presença de cristais branco-amarelados em área foveal e parafoveal em ambos os olhos. Aconselhamento genético foi realizado. O manejo foi de suporte. A Síndrome de Sjögren-Larsson é uma rara doença autossômica recessiva em que há 100% de penetrância. Síndrome de Sjögren-Larsson é classicamente caracterizada por ictiose, espasticidade e deficiência mental. A doença é causada por mutações no gene aldeído desidrogenase. As alterações oculares observadas são geralmente bilaterais, cristais branco-amarelados em área retiniana, que aparecem nos dois primeiros anos de vida e que vão aumentando em número com a idade. As anormalidades oculares não têm relação com a severidade da ictiose ou com as anormalidades neurológicas. Acredita-se que as lesões oftalmológicas sejam um sinal patognomônico da síndrome. É necessário enfatizar a importância do diagnóstico precoce e possibilidades de tratamento dietético.

Sjogren - Larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. The disease is caused by mutations in the aldehyde dehydrogenase gene. The ocular manifestations are highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases whit age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. We report the clinical characteristics and ocular manifestations associated with the Sjögren-Larsson syndrome in two siblings, emphasizing the clinical importance of the ophthalmological examination of the Sjögren-Larsson syndrome. BPLS, a eleven year old boy and MPLS, a ten year old girl from non-consanguinous parents, presenting congenital ichthyosis, spastic diplegia and mental retardation. Miopia, fotofobia, subnormal visual acuity and glistening yellow-white crystalline deposits that were located in the foveal and parafoveal area were found in the ophthalmologic examination.

13770 downloads

12.

Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Giugliani, Roberto

; Federhen, Andressa

; Muñoz Rojas, Maria Verônica

; Vieira, Taiane

; Artigalás, Osvaldo

; Lapagesse Pinto, Louise

; Azevedo, Ana Cecília

; Acosta, Angelina

; Bonfim, Carmen

; Lourenço, Charles Marques

; Chong Ae, Kim

; Horovitz, Dafne

; Bonfim, Denize

; Norato, Denise

; Marinho, Diane

; Palhares, Durval

; Santos, Emerson Santana

; Ribeiro, Erlane

; Valadares, Eugênia

; Guarany, Fábio

; Lucca, Gisele Rosone de

; Pimentel, Helena

; Souza, Isabel Neves de

; Correa Neto, Jordão

; Fraga, José Carlos

; Goes, José Eduardo

; Cabral, José Maria

; Simionato, José

; Llerena Jr., Juan

; Jardim, Laura

; Giuliani, Liane

; Silva, Luiz Carlos Santana da

; Santos, Mara L.

; Moreira, Maria Angela

; Kerstenetzky, Marcelo

; Ribeiro, Márcia

; Ruas, Nicole

; Barrios, Patricia

; Aranda, Paulo

; Honjo, Rachel

; Boy, Raquel

; Costa, Ronaldo

; Souza, Carolina

; Alcantara, Flavio F.

; Avilla, Silvio Gilberto A.

; Fagondes, Simone

; Martins, Ana Maria

Genetics and Molecular Biology

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2010, Volume 33 N. 4 Pages 589 - 604

Abstract: En | Text: En | PDF: En

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.

8605 downloads Cited 6 times in SciELO

13.

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Giugliani, Roberto

; Federhen, Andressa

; Muñoz Rojas, Maria Verónica

; Vieira, Taiane Alves

; Artigalás, Osvaldo

; Pinto, Louise Lapagesse Carmargo

; Azevedo, Ana Cecília

; Acosta, Angelina Xavier

; Bomfim, Carmem

; Lourenço, Charles Marques

; Kim, Chong Ae

; Horovitz, Dafne

; Souza, Denize Bomfim

; Norato, Denise

; Marinho, Diane

; Palhares, Durval

; Santos, Emerson Santana

; Ribeiro, Erlane

; Valadares, Eugênia Ribeiro

; Guarany, Fábio

; De Lucca, Gisele Rosone

; Pimentel, Helena

; Souza, Isabel Neves de

; Corrêa Neto, Jordão

; Fraga, José Carlos

; Góes, José Eduardo

; Cabral, José Maria

; Simeonato, José

; Llerena Jr, Juan Clinton

; Jardim, Laura Bannach

; Giuliani, Liane de Rosso

; Silva, Luiz Carlos Santana da

; Santos, Mara

; Moreira, Maria Ângela

; Kerstenetzky, Marcelo

; Ribeiro, Márcia

; Ruas, Nicole

; Barrios, Patricia

; Aranda, Paulo

; Honjo, Rachel

; Boy, Raquel

; Costa, Ronaldo

; Souza, Carolina Fishinger Moura de

; Alcântara, Flavio F

; Avilla, Sylvio Gilberto A

; Fagondes, Simone

; Martins, Ana Maria

Revista da Associação Médica Brasileira

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2010, Volume 56 N. 3 Pages 271 - 277

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

As mucopolissacaridoses (MPS) são doenças genéticas raras causadas pela deficiência de enzimas lisossômicas específicas que afetam o catabolismo de glicosaminoglicanos (GAG). O acúmulo de GAG em vários órgãos e tecidos nos pacientes afetados pelas MPS resulta em uma série de sinais e sintomas, integrantes de um quadro clínico multissistêmico que compromete ossos e articulações, vias respiratórias, sistema cardiovascular e muitos outros órgãos e tecidos, incluindo, em alguns casos, as funções cognitivas. Já foram identificados 11 defeitos enzimáticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauração da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevenção e o cuidado das complicações, aspecto ainda bastante importante no manejo desses pacientes. Na década de 80 foi proposto o tratamento das MPS com transplante de medula óssea/transplante de células tronco hematopoiéticas (TMO/TCTH) e na década de 90 começou o desenvolvimento da Terapia de Reposição Enzimática (TRE), que se tornou uma realidade aprovada para uso clínico nas MPS I, II e VI na primeira década do século 21. Os autores deste trabalho têm a convicção de que um melhor futuro para os pacientes afetados pelas MPS depende da identificação, compreensão e manejo adequado das manifestações multissistêmicas dessas doenças, incluindo medidas de suporte (que devem fazer parte da assistência multidisciplinar regular destes pacientes) e terapias específicas. Embora a inibição da síntese de GAG e o resgate da atividade enzimática com moléculas pequenas também possam vir a ter um papel no manejo das MPS, o grande avanço disponível no momento é a TRE intravenosa. A TRE permitiu modificar radicalmente o panorama do tratamento das mucopolissacaridoses I, II e VI na última década, sendo que ainda pode estender seus benefícios em breve para a MPS IV A (cuja TRE já está em desenvolvimento clínico), com perspectivas para o tratamento da MPS III A e do déficit cognitivo na MPS II através de administração da enzima diretamente no sistema nervoso central (SNC). Um grande número de centros brasileiros, incluindo serviços de todas as regiões do país, já têm experiência com TRE para MPS I, II e VI. Essa experiência foi adquirida não só com o tratamento de pacientes como também com a participação de alguns grupos em ensaios clínicos envolvendo TRE para essas condições. Somados os três tipos de MPS, mais de 250 pacientes já foram tratados com TRE em nosso país. A experiência dos profissionais brasileiros, somada aos dados disponíveis na literatura internacional, permitiu elaborar este documento, produzido com o objetivo de reunir e harmonizar as informações disponíveis sobre o tratamento destas doenças graves e progressivas, mas que, felizmente, são hoje tratáveis, uma realidade que traz novas perspectivas para os pacientes brasileiros afetados por essas condições.

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions.

25082 downloads Cited 2 times in SciELO

14.

Ambigüidade genital: a percepção da doença e os anseios dos pais
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Silva, Carlos Antonio Bruno da

; Brito, Heleni B. de

; Ribeiro, Erlane Marques

; Brandão-Neto, José

Revista Brasileira de Saúde Materno Infantil

Journal Metrics
- Sobre o periódico
- SciELO Analytics

mar 2006, Volume 6 N. 1 Pages 107 - 113

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

OBJETIVOS: identificar a percepção e os mecanismos de enfrentamento utilizados por pais frente à ambigüidade genital de seus filhos em suas diversas etapas evolutivas. MÉTODOS: estudo qualitativo, baseado nos relatos de 15 pais, todos de diferentes famílias, sobre seus anseios no desenvolvimento da criança. Realizado no ambulatório de patologias endócrino-genéticas do Hospital Geral César Cals, no Ceará, em 2004. RESULTADOS: as categorias que emergiram através do discurso dos sujeitos foram: o medo e a ansiedade, e os mecanismos de enfrentamento foram: a negação; a fuga; a regressão/projeção e a racionalização. Observou-se que as tensões e angústias no período neonatal são expressas através do medo da morte, da doença incurável e dos medicamentos. No período infantil, do procedimento cirúrgico (genitália ambígua) e da sexualidade (homossexualismo). Na projeção da fase puberal e adulta há o temor da marginalização, do preconceito, da homossexualidade e da infertilidade. As angústias relatadas foram de quem seria a culpa, a definição sexual (ambigüidade) e a necessidade do segredo. CONCLUSÕES: a genitália ambígua consiste em uma patologia de alta complexidade, que desestabiliza a harmonia psicológica familiar. Nas situações de ambigüidade genital, a detecção e desmistificação dos medos e anseios dos pais devem fazer parte do plano terapêutico.

OBJECTIVES: to identify how parents perceive and face genital ambiguity in their children during different development phases. METHODS: qualitative study based on the reports of 15 parents of different families on their children's development expectations. Performed at the clinic of endocrinologic and genetic diseases of the Hospital Geral César Cals of Ceará in 2004. RESULTS: subjects reported: fear and anxiety, and the feelings involved in the way they handled the condition were: denial; evasion; regression/projection and rationalization. The tension and anguish noted in the neonatal period are expressed by the fear of death, incurable disease and medication. During childhood, of the surgical procedure (ambiguous genitalia) and sexuality (homosexuality). During puberty and adulthood there's the fear of marginalization, prejudice, homosexuality and infertility. There is anguish related to pointing at the guilty party, sexual definition (ambiguity) and the need for secrecy. CONCLUSIONS: ambiguous genitalia is a highly complex condition affecting the family psychological balance. In situations of genital ambiguity determining and demystifying fears and expectations should be part of the therapeutic plan.

6497 downloads Cited 1 time in SciELO

15.

Retardo mental
Facebook Twitter

Other social networks
Google+
LinkedIn
Reddit
StambleUpon
CiteULike
Mendeley
Other networks

Metrics
- SciELO Analytics

Ribeiro, Erlane Marques

Jornal de Pediatria

Journal Metrics
- Sobre o periódico
- SciELO Analytics

2004, Volume 80 N. 5 Pages 429 - 430

Abstract: Pt | Text: Pt | PDF: Pt

3190 downloads

Showing

itens per page

Page of 1 Next

Select one or more results

All Alphabetic

Results

Comparative chart Download CSV

Statistics of

Send result

To*

Use ; (semicolon) to insert more emails.

Send to email

This page

Selected records

All references (max. 300)

Your email

Subject

Comments

Export format:

RIS (for EndNote, ProCite, Reference Manager, RefWorks, Citavi, etc.)

BibTeX

Citation

CSV (for Excel, etc)

Export:

This page

Selected itens

All references (max. 2000)

Sem resultados

No documents were found for your search

Glossary and search help

You can enrich your search in a very simple way. Use the search indexes combined with the connectors (AND or OR) and specify more your search.

For example, if you want to search for articles about
cases of dengue in Brasil in 2015, use:
ti:dengue and publication_year:2015 and aff_country:Brasil

See below the complete list of search indexes that can be used:

Index code	Element
ti	article title
au	author
kw	article keywords
subject	subject (title words, abstract and keywords)
ab	abstract
ta	journal short title (e.g. Cad. Saúde Pública)
journal_title	journal full title (e.g. Cadernos de Saúde Pública)
la	publication language code (e.g. pt - Portuguese, es - Spanish)
type	document type
pid	publication identifier
publication_year	publication year of publication
sponsor	sponsor
aff_country	country code of the author's affiliation
aff_institution	author affiliation institution
volume	article volume
issue	article issue
elocation	elocation
doi	DOI number
issn	journal ISSN
in	SciELO colection code (e.g. scl - Brasil, col - Colômbia)
use_license	article usage license code

SciELO - Scientific Electronic Library Online
Rua Dr. Diogo de Faria, 1087 – 9º andar – Vila Clementino 04037-003 São Paulo/SP - Brasil
Email: scielo@scielo.org

All the contents of this site www.scielo.br, except where otherwise noted, is licensed under a Creative Commons Attribution License.
more »