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Book ; Online: A linguagem de crianças com a Síndrome Congênita do Zika Vírus

Verdu, Ana Cláudia Moreira Almeida / Hussein, Laila Guzzon / Silva, Nathani Cristina da / Ribeiro, Erlane Marques / Giacheti, Celia Maria

um guia para pais

2021

Keywords	JNS ; Infecção por Zika vírus ; Crianças - Linguagem ; Aquisição de linguagem - Participação dos pais
Language	Portuguese
Size	1 electronic resource (52 pages)
Publisher	Editora Oficina Universitária
Publishing place	Marília, São Paulo, Brazil
Document type	Book ; Online
Note	Portuguese
HBZ-ID	HT030382489
ISBN	9786559540976 ; 6559540979
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Book ; Online: A linguagem de crianças com Síndrome Congênita do Zika Vírus

Verdu, Ana Cláudia Moreira Almeida / Hussein, Laila Guzzon / Silva, Nathani Cristina da / Ribeiro, Erlane Marques / Giacheti, Celia Maria

um guia para profissionais

2021

Keywords	JNS ; Infecção por Zika vírus ; Crianças - Linguagem ; Aquisição de linguagem ; Pessoal da área de saúde pública - Manuais ; guias
Language	Portuguese
Size	1 electronic resource (62 pages)
Publisher	Editora Oficina Universitária
Publishing place	Marília, São Paulo, Brazil
Document type	Book ; Online
Note	Portuguese
HBZ-ID	HT030382575
ISBN	9786559540952 ; 6559540952
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.

Schwartz, Ida Vanessa Doederlein / Quesada, Andrea Amaro / Ribeiro, Erlane Marques / Martins, Ana Maria / Vilela, Daniel Reda Fenga / Pessoa, André

Arquivos de neuro-psiquiatria

2023 Volume 81, Issue 7, Page(s) 685–695

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 ... ...

Title translation	Desfechos neuropsicológicos e de qualidade de vida em pacientes com PKU: recomendações de especialistas sobre ferramentas de avaliação no Brasil.
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). Conclusion: These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU.
MeSH term(s)	Infant, Newborn ; Humans ; Brazil ; Quality of Life ; Executive Function ; Attention Deficit Disorder with Hyperactivity ; Phenylketonurias/diagnosis ; Phenylketonurias/drug therapy
Language	English
Publishing date	2023-06-19
Publishing country	Germany
Document type	Review ; Journal Article
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1055/s-0043-1768677
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Conference proceedings: Genetic profile of patients with developmental and epileptic encephalopathy at a reference center in Northeast Brazil

Rodrigues, Aline Campos Fontenele / Mariano, Tamiris Carneiro / Ribeiro, Erlane Marques / Pessoa, André Luiz Santos

Arquivos de Neuro-Psiquiatria

2023 Volume 81, Issue S 01

Event/congress	SBN Conference 2022, Expo United Curitiba, 2022-11-09
Language	English
Publishing date	2023-09-01
Publisher	Thieme Revinter Publicações Ltda.
Publishing place	Stuttgart ; New York
Document type	Article ; Conference proceedings
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1055/s-0043-1774454
Database	Thieme publisher's database

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Article ; Online: 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

de Wallau, Melissa Bittencourt / Xavier, Ana Carolina / Moreno, Carolina Araújo / Kim, Chong Ae / Mendes, Elaine Lustosa / Ribeiro, Erlane Marques / Oliveira, Amanda / Félix, Têmis Maria / Fett-Conte, Agnes Cristina / Bonadia, Luciana Cardoso / Correia-Costa, Gabriela Roldão / Monlleó, Isabella Lopes / Gil-da-Silva-Lopes, Vera Lúcia / Vieira, Társis Paiva

Genes

2024 Volume 15, Issue 4

Abstract: 22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was ... ...

Abstract	22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However,
MeSH term(s)	Humans ; Female ; DiGeorge Syndrome/genetics ; Male ; Child ; Adolescent ; Polymorphism, Single Nucleotide ; Phenotype ; Child, Preschool ; Adult ; Chromosomes, Human, Pair 22/genetics ; Infant ; Young Adult
Language	English
Publishing date	2024-04-21
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15040518
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.

Martins, Ana Maria / Pessoa, Andre Luiz Santos / Quesada, Andrea Amaro / Ribeiro, Erlane Marques

Molecular genetics and metabolism reports

2020 Volume 24, Page(s) 100624

Abstract: Background: Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism ... ...

Abstract	Background: Accumulation of phenylalanine (Phe) due to deficiency in the enzyme phenylalanine hydroxylase (PAH), responsible for the conversion of Phe into tyrosine leads to Phenylketonuria (PKU), a rare autosomal recessive inborn error of metabolism with a mean prevalence of approximately 1:10,000 to 1:15,000 newborns. Physical, neurocognitive and psychiatric symptoms include neurodevelopmental disorder as intellectual disability and autism spectrum disorder. The most common treatments such as low-Phe diet and supplements may decrease blood Phe concentrations, but neuropsychological, behavioral and social issues still occur in some patients. This study aimed to better understand (i) the Brazilian population's knowledge about newborn screening (NBS), the main diagnostic method for PKU, as well as (ii) the impacts of phenylketonuria in the daily lives of patients and parents. Methods: Two surveys in Real World Data format gathering of Brazilian residents by online questionnaires with (i) 1000 parents of children up to 5 years old between March and April 2019; (ii) 228 PKU patients and caregivers in March 2019. The survey was conducted in partnership with Abril Publisher and two Brazilian patient associations: Metabolic Mothers and SAFE Brasil, for families with rare diseases and PKU patients, respectively. Results: The first questionnaire shows that 93% of parents recognize the importance of NBS and 92% report that their children have undergone the test. Still, two out of ten participants did not know what the exam is or what it is for. From the second questionnaire nine out of ten patients had their PKU diagnosis by NBS. Although strict dietary controls for PKU were claimed by 44% of respondents from second questionnaire, 55% assume not following all nutritionist recommendations and 52% did not maintain routinely Phe control levels. In addition, 53% said they had high spending on medical appointments, therapies and purchase of special foods. Conclusions: Despite the lack of understanding, the awareness of NBS importance is present in the studied population. The early diagnosis of most PKU patients in the study corroborates with neonatal screening central role of PKU early detection. The difficulty in adhering to dietary adjustments and the possibility that current and new therapeutic strategies other than diet could be determinant to achieve the recommended Phe levels.
Language	English
Publishing date	2020-07-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2020.100624
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

Gomes, Gustavo Rodrigues Ferreira / Mariano, Tamiris Carneiro / Braga, Vitor Lucas Lopes / Ribeiro, Erlane Marques / Guimarães, Ingred Pimentel / Pereira, Késia Sindy Alves Ferreira / Nóbrega, Paulo Ribeiro / Pessoa, André Luiz Santos

Brain sciences

2023 Volume 13, Issue 8

Abstract: Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in : Conclusion: We seek to highlight the need for ... ...

Abstract	Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in Conclusion: We seek to highlight the need for screening for CMYP13 in patients expressing the typical phenotype of the disease even in the absence of Lumbee Native American ancestry, and to raise awareness to possible complications like malignant hyperthermia in Bailey-Bloch congenital myopathy.
Language	English
Publishing date	2023-08-10
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci13081184
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

Atique Tacla, Milena / de Mello Copelli, Matheus / Pairet, Eleonore / Monlleó, Isabella Lopes / Ribeiro, Erlane Marques / Lustosa Mendes, Elaine / Helaers, Raphaël / Vieira, Tarsis Paiva / Vikkula, Miikka / Gil-da-Silva-Lopes, Vera Lúcia

European journal of human genetics : EJHG

2023

Abstract: This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole ... ...

Abstract	This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole Exome Sequencing (WES) were performed in 17 individuals with OC-MAC. Clinical interpretation of molecular findings was based on data available at the BDCA and on re-examination. No copy number variants (CNVs) classified as likely pathogenic or pathogenic were detected by CMA. WES allowed a conclusive diagnosis in six individuals (35.29%), two of them with variants in the CHD7 gene, and the others with variants in the TFAP2A, POMT1, PTPN11, and TP63 genes with the following syndromes: CHARGE, CHD7-spectrum, Branchiooculofacial, POMT1-spectrum, LEOPARD, and ADULT. Variants of uncertain significance (VUS) possibly associated to the phenotypes were found in six other individuals. Among the individuals with VUSes, three individuals presented variants in genes associated to defects of cilia structure and/or function, including DYNC2H1, KIAA0586, WDR34, INTU, RPGRIP1L, KIF7, and LMNA. These results show that WES was the most effective molecular approach for OC-MAC in this cohort. This study also reinforces the genetic heterogeneity of OC-MAC, and the importance of genes related to ciliopathies in this phenotype.
Language	English
Publishing date	2023-11-06
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01488-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

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

Schwartz, Ida Vanessa Doederlein / Quesada, Andrea Amaro / Ribeiro, Erlane Marques / Martins, Ana Maria / Vilela, Daniel Reda Fenga / Pessoa, André

Arquivos de Neuro-Psiquiatria

2023 Volume 81, Issue 07, Page(s) 685–695

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). Conclusion: These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU.
Keywords	Phenylketonurias ; Mental Health ; Neuropsychological Tests ; Quality of Life ; Brazil ; Fenilcetonúrias ; Saúde Mental ; Testes Neuropsicológicos ; Qualidade de Vida ; Brasil
Language	English
Publishing date	2023-06-19
Publisher	Thieme Revinter Publicações Ltda.
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1055/s-0043-1768677
Database	Thieme publisher's database

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Article: Disease progression in Sanfilippo type B: Case series of Brazilian patients.

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

2024 Volume 47, Issue 1, Page(s) e20230285

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 ... ...

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.
Language	English
Publishing date	2024-03-08
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	1445712-x
ISSN	1678-4685 ; 1415-4757
ISSN (online)	1678-4685
ISSN	1415-4757
DOI	10.1590/1678-4685-GMB-2023-0285
Database	MEDical Literature Analysis and Retrieval System OnLINE

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