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Access to genetic evaluation of 1463 individuals with orofacial cleft in Brazil 146 14 1
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Silva, Isabela Mayá Wayhs

; Tacla, Milena Atique

; Ribeiro, Erlane Marques

; Lustosa-Mendes, Elaine

; Fett-Conte, Agnes Cristina

; Félix, Têmis Maria

; Xavier, Ana Carolina

; Monlleó, Isabella Lopes

; Gil-da-Silva-Lopes, Vera Lúcia

Jornal de Pediatria

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dec 2024, Volume 100 N. 6 Pages 604 - 608

Abstract: En | Text: En | PDF: En

Abstract Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. , (OC) Brazil crosssectional cross sectional 146 BDCA (BDCA 200 201 selection 202 considered 98 nonsyndromic, nonsyndromic non syndromic, non-syndromic 46 SOC, (SOC) 1 forms 85 8 5 8. Notably 37.1 371 37 (37. vs 2 0.0015. 00015 0.0015 . 0 0015 0.0015) 73 7 3 7. 107 10. 0.0581. 00581 0.0581 0581 0.0581) origin group population access (OC 14 20 9 4 (SOC 37. (37 0001 0.001 001 0058 0.058 058 (3 000 0.00 00 005 0.05 05 ( 0.0 0.

https://doi.org/10.1016/j.jped.2024.07.002

Disease progression in Sanfilippo type B: Case series of Brazilian patients B
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Montenegro, Yorran Hardman Araújo

; Kubaski, Francyne

; Trapp, Franciele Barbosa

; Riegel-Giugliani, Mariluce

; Souza, Carolina Fischinger Moura de

; Ribeiro, Erlane Marques

; Lourenço, Charles Marques

; Cardoso-dos-Santos, Augusto César

; Ribeiro, Márcia Gonçalves

; Kim, Chong Ae

; Castro, Matheus Augusto Araújo

; Embiruçu, Emília Katiane

; Steiner, Carlos Eduardo

; Vairo, Filippo Pinto e

; Baldo, Guilherme

; Giugliani, Roberto

; Poswar, Fabiano de Oliveira

Genetics and Molecular Biology

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2024, Volume 47 N. 1 elocation e20230285

Abstract: En | Text: En | PDF: En

Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage of heparan sulphate. The disease is characterized by intellectual disability and hyperactivity, among other neurological and somatic features. Here we studied retrospective data from a total of 19 MPS IIIB patients from Brazil, aiming to evaluate disease progression. Mean age at diagnosis was 7.2 years. Speech delay was one of the first symptoms to be identified, around 2-3 years of age. Behavioral alterations include hyperactivity and aggressiveness, starting around age four. By the end of the first decade, patients lost acquired abilities such as speech and ability to walk. Furthermore, as disease progresses, respiratory, cardiovascular and joint abnormalities were found in more than 50% of the patients, along with organomegaly. Most common cause of death was respiratory problems. The disease progression was characterized in multiple systems, and hopefully these data will help the design of appropriate clinical trials and clinical management guidelines. alphaNacetylglucosaminidase, alphaNacetylglucosaminidase alpha N acetylglucosaminidase, acetylglucosaminidase alpha-N-acetylglucosaminidase sulphate features 1 Brazil 72 7 2 7. identified 23 3 2- aggressiveness four decade walk Furthermore progresses 50 organomegaly problems systems guidelines 5

https://doi.org/10.1590/1678-4685-gmb-2023-0285

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil patients
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Schwartz, Ida Vanessa Doederlein

; Quesada, Andrea Amaro

; Ribeiro, Erlane Marques

; Martins, Ana Maria

; Vilela, Daniel Reda Fenga

; Pessoa, André

Arquivos de Neuro-Psiquiatria

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

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

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. (PKU hidroxilase Brasil graves entanto 2 30 focais trabalho ansiedade TDAH. . (TDAH) sentido Atualmente clínicas pública reunião Scielo PedsQL, PedsQL Peds QL, QL (Peds-QL SF36 SF 36 SF-3 WHOQOLbref, WHOQOLbref WHOQOL bref , WHOQOL-bref) BRIEF BayleyIII, BayleyIII Bayley III Bayley-III) SONR 2½7a 2½ 7 2½-7[a WASI MTASNAPIV MTA SNAP IV ASRS. ASRS ASRS) 3 (TDAH SF3 SF- WHOQOL-bref Bayley-III

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. (PKU hydroxylase disabilities However 2 30 earlytreated treated memory speed anxiety depression ADHD. . (ADHD) Therefore agespecific age specific date experience routines services meeting databases PedsQL, PedsQL Peds QL, QL (Peds-QL SF36 SF 36 SF-3 WHOQOLbref, WHOQOLbref WHOQOL bref , WHOQOL-bref) BRIEF BayleyIII, BayleyIII Bayley III Bayley-III) SONR 2½7a a 2½ 7 2½-7[a WASI MTASNAPIV MTA SNAP IV ASRS. ASRS ASRS) 3 (ADHD SF3 SF- WHOQOL-bref Bayley-III

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

Identification of genomic imbalances in oral clefts
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Lustosa-Mendes, Elaine

; Santos, Ana P. dos

; Vieira, Társis P.

; Ribeiro, Erlane M.

; Rezende, Adriana A.

; Fett-Conte, Agnes C.

; Cavalcanti, Denise P.

; Félix, Têmis M.

; Monlleó, Isabella L.

; Gil-da-Silva-Lopes, Vera Lúcia

Jornal de Pediatria

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jun 2021, Volume 97 N. 3 Pages 321 - 328

Abstract: En | Text: En | PDF: En

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.

https://doi.org/10.1016/j.jped.2020.06.005 65 downloads

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

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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
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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

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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
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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

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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
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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

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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 39 downloads

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

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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 2801 downloads

10.

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
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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

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2017, Volume 23 elocation 15

Abstract: En | Text: En | PDF: En

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

11.

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

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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

12.

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

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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

13.

Síndrome de Hadju-Cheney: alterações renais em um relato de caso
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Dantas, Élida Lívia Rafael

; Pontes, Mário Lima

; Fernandes, Paula Francinetti Camurça Castelo Branco

; Ribeiro, Erlane Marques

; Daher, Elizabeth de Francesco

Brazilian Journal of Nephrology

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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

14.

Síndrome Sjögren - Larsson
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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

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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

15.

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

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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.

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