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Multiple copy number variation in a patient with Kleefstra syndrome
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Lee, Thomas Nohama

; Rechetello, Henrique El Laden

; Lima Júnior, João Batista De Arêa

; Cornelio, João Pedro Fagoti Ferraz

; Pegoraro, Naiara Bozza

; Raskin, Salmo

; Mikami, Liya Regina

Revista Paulista de Pediatria

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2024, Volume 42 elocation e2022230

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

RESUMO Objetivo: Relatar um caso raro de paciente com diagnóstico molecular de síndrome de Kleefstra (SK) que apresenta quatro outras alterações cromossômicas envolvendo variantes patogênicas. Descrição do caso: Paciente masculino, dois anos de idade, com atraso global de desenvolvimento neuropsicomotor, hipertelorismo ocular, fronte ampla, braquicefalia, hipotonia, frouxidão ligamentar, prega palmar única unilateral e cisto aracnoide. Exame de hibridização genômica comparativa (a-CGH) identificou variações de número de cópias (CNV) em cinco regiões: 9q34.3, 6p22.1, Yq11.223, Yp11.23 e 2q24.1. A microdeleção heterozigótica em 9q34.3 confirma o diagnóstico de síndrome de Kleefstra. Comentários: A presença das CNV patogênicas e/ou de significado incerto, localizadas nos cromossomos 2, 6 e Y, pode estar contribuindo para uma variabilidade no quadro clínico do paciente (cisto aracnoide, prega palmar única e frouxidão ligamentar) em relação a outros indivíduos somente com alteração genética da SK, dificultando o diagnóstico da doença. Objetivo SK (SK masculino idade neuropsicomotor ocular ampla braquicefalia hipotonia ligamentar aracnoide aCGH CGH (a-CGH (CNV regiões 9q343 q 9q34 3 6p221 p 6p22 1 6p22.1 Yq11223 Yq Yq11 223 Yq11.223 Yp1123 Yp Yp11 23 Yp11.2 2q241 2q24 2q24.1 9q34. Comentários eou ou incerto 2 Y doença 9q3 6p2 6p22. Yq1122 Yq1 22 Yq11.22 Yp112 Yp1 Yp11. 2q2 2q24. 9q 6p Yq112 Yq11.2 2q Yq11.

ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder. Objective (KS variants description old delay development hypertelorism forehead brachycephaly hypotonia laxity cyst microarraybased microarray based aCGH CGH (a-CGH (CNVs regions 9q343 q 9q34 3 6p221 p 6p22 1 6p22.1 Yq11223 Yq Yq11 223 Yq11.223 Yp1123 Yp Yp11 23 Yp11.23 2q241 2q24 2q24.1 9q34. EHMT Comments andor or significance 2 Y patients s , laxity) alteration harder 9q3 6p2 6p22. Yq1122 Yq1 22 Yq11.22 Yp112 Yp1 Yp11.2 2q2 2q24. 9q 6p Yq112 Yq11.2 Yp11. 2q Yq11.

https://doi.org/10.1590/1984-0462/2024/42/2022230

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 MBTPS
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Migliavacca, Michele Patricia

; Fock, Rodrigo Ambrosio

; Almeida, Nadia

; Cavalcanti, Thereza

; Villela, Darine

; Perez, Ana Beatriz Alvarez

; Valle, David

; Wohler, Elizabeth

; Sobreira, Nara Lygia de Macena

; Raskin, Salmo

Revista Paulista de Pediatria

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2023, Volume 41 elocation e2022057

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

RESUMO Objetivo: A clássica tríade de ictiose folicular, alopecia e fotofobia dá nome a uma síndrome rara de origem genética com herança ligada ao cromossomo X (síndrome IFAP, do inglês Ichthyosis Follicularis, Alopecia, and Photophobia). Esta é uma síndrome caracterizada por múltiplas anomalias congênitas de expressividade variável, causada por variantes patogênicas no gene MBTPS2, que codifica uma zinco-metaloprotease essencial para o desenvolvimento normal humano. O objetivo deste estudo é apresentar o relato de caso de um paciente brasileiro com síndrome IFAP que apresentou anomalias esqueléticas, um achado raro entre os pacientes de diferentes famílias. Descrição do caso: Apresentamos um probando do sexo masculino com síndrome IFAP, com ictiose congênita grave, criptorquidia, malformação de membros e as características da síndrome de BRESHECK. Por meio do sequenciamento do exoma completo, identificamos uma variante rara do tipo missense, em hemizigose, no gene MBTPS2, não identificada em outros membros da família. Comentários: Este é o primeiro diagnóstico de síndrome IFAP no Brasil com investigação molecular. A análise molecular e a descrição de uma variante rara no gene MBPTS2 expandem nosso conhecimento sobre o espectro mutacional desse gene associado à síndrome IFAP. Objetivo folicular Follicularis Alopecia Photophobia. Photophobia . Photophobia) variável MBTPS2 MBTPS zincometaloprotease zinco metaloprotease humano esqueléticas famílias grave criptorquidia BRESHECK completo missense hemizigose família Comentários MBPTS

Abstract Objective: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. Case description: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. Comments: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome. Objective triad follicularis alopecia photophobia Xlinked X linked severity MBTPS gene development families description congenita cryptorchidism malformation features wholeexome whole exome sequencing members Comments investigation MBPTS

https://doi.org/10.1590/1984-0462/2023/41/2022057

Phenocopy in a patient with triple negative breast cancer: a case report cancer
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Costa, Gustavo Henrique Morcelli da

; Dias, Eduarda Scoto

; Pegoraro, Naiara Bozza

; Kohler, Camila Nemetz

; Raskin, Salmo

; Mikami, Liya Regina

einstein (São Paulo)

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2023, Volume 21 elocation eRC0319

Abstract: En | Text: En | PDF: En

ABSTRACT A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 . The patient underwent genetic testing for BRCA1 and BRCA2 and exome sequencing. Familial or other cancer variants were not detected. The most accepted phenocopy theory is that patients without genetic variants but who are carriers of these mutations undergo cellular changes due to environmental factors, increasing the risk of breast cancer. Therefore, the detection of phenocopy in patients with breast cancer is important in clinical practice. 167 1 67 1.6 worldwide 510 5 10 5%–10 phenomenon literature phenocopies 44yearold yearold 44 old triplenegative triple negative c1813delA cdelA c 1813delA delA c.1813delA pIle605TyrfsTer9 pIleTyrfsTer p Ile605TyrfsTer9 Ile TyrfsTer p.Ile605TyrfsTer BRCA sequencing detected Therefore practice 16 6 1. 51 5%–1 4 pIle pIle605TyrfsTer IleTyrfsTer Ile605TyrfsTer 5%– 5%

https://doi.org/10.31744/einstein_journal/2023rc0319

Autism and duplication of 17q12q21.2 by array-CGH: a case report 17q12q212 qq 17q12q21 2 q 17q12q21. arrayCGH array CGH array-CGH 17q12q2 17q12q
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Weingartner, Alana

; Pegoraro, Naiara Bozza

; Maglioni, Rie Tiba

; Moreira, Isabelle Caroline Fasolo Normandia

; Rodrigues, Gabriela Esmanhoto

; Kunz, Ana Clara

; Piai, Caroline Brandão

; Milano, Aline Sauzem

; Raskin, Salmo

; Ferrari, Lilian Pereira

; Mikami, Liya Regina

Revista Paulista de Pediatria

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2023, Volume 41 elocation e2021387

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

RESUMO Objetivo: O transtorno do espectro autista (TEA) afeta o desenvolvimento cognitivo e a interação social em diferentes níveis. Fatores genéticos e ambientais estão associados a TEA secundário. A herança genética é principalmente poligênica e, em 10%, são variações do número de cópias (CNV). A hibridização genômica comparativa de array (array-CGH) é usada para identificar CNV. Este relato objetivou discutir o TEA e seu diagnóstico por array-CGH, destacando a associação com a duplicação patogênica do 17q12q21.2. Descrição do caso: Um bebê do sexo masculino nasceu com 37 semanas de gestação por cesariana. A criança apresentou atraso no desenvolvimento, andando aos dois anos e um mês e falando aos quatro, exibindo estrabismo, criptorquidia, hipertelorismo e saliência frontal. Aos dois anos, o array-CGH de sangue periférico revelou duplicação de 5,6 Mb 17q12q21.2 ou arr 17q12q21.2 (34.815.527-40.213.109) x3 abrangendo 190 genes, incluindo HNF1B e LHX1. A criança foi clinicamente diagnosticada com TEA. Comentários: Alterações no segmento 17q12, como a duplicação encontrada, têm sido associadas ao desenvolvimento de patologias renais e distúrbios comportamentais. Localizado nessa região cromossômica, o HNF1B codifica um membro da superfamília que contém o domínio dos fatores de transcrição. Outro gene foi associado a anormalidades neurológicas, em relação às deleções 17q12, o LHX1, como mostrado neste caso. O LHX1 desempenha um papel na migração e diferenciação dos neurônios GABA, modulando a sobrevivência dos interneurônios pré-ópticos e afetando, assim, a migração e distribuição celular no córtex. Mudanças nesse controle resultam em falhas no desenvolvimento dos interneurônios, contribuindo para a fisiopatologia das doenças psiquiátricas. Objetivo (TEA níveis secundário 10 10% CNV . (CNV) arrayCGH CGH (array-CGH arrayCGH, CGH, 17q12q212 qq 17q12q21 2 q caso 3 cesariana quatro estrabismo criptorquidia frontal 56 5 6 5, 17q12q21. 34.815.52740.213.109 3481552740213109 34.815.527 40.213.109 34 815 527 40 213 109 (34.815.527-40.213.109 x 19 genes HNFB HNF B LHX Comentários 17q12 encontrada comportamentais cromossômica transcrição neurológicas GABA préópticos pré ópticos afetando assim córtex psiquiátricas 1 (CNV 17q12q2 52740 34.815.52740.213.10 348155274021310 34815527 34.815.52 40213109 40.213.10 81 52 4 21 (34.815.527-40.213.10 17q1 17q12q 5274 34.815.52740.213.1 34815527402131 3481552 34.815.5 4021310 40.213.1 8 (34.815.527-40.213.1 17q 34.815.52740.213. 3481552740213 348155 34.815. 402131 40.213. (34.815.527-40.213. 34.815.52740.213 348155274021 34815 34.815 40213 40.213 (34.815.527-40.213 34.815.52740.21 34815527402 3481 34.81 4021 40.21 (34.815.527-40.21 34.815.52740.2 3481552740 348 34.8 402 40.2 (34.815.527-40.2 34.815.52740. 348155274 34. 40. (34.815.527-40. 34.815.52740 (34.815.527-40 34.815.5274 (34.815.527-4 (34.815.527- (34.815.527 (34.815.52 (34.815.5 (34.815. (34.815 (34.81 (34.8 (34. (34 (3 (

ABSTRACT Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2. Case description: A male baby was born at 37 weeks’ gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD. Comments: Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases. Objective ASD (ASD levels polygenic 10 CNVs . (CNVs) arrayCGH CGH (array-CGH 17q12q212 qq 17q12q21 q description 3 weeks section strabismus cryptorchidism hypertelorism bossing delay years 5.6Mb 56Mb Mb 5.6 5 6 17q12q21. 34,815,52740,213.109x3 3481552740213109x3 x 34,815,527 40,213.109 x3 34 815 527 40 213 109 (34,815,527-40,213.109)x 19 genes HNF1B HNFB HNF 1B LHX Comments 17q1 segment found studies disorders region HNF1s HNFs HNF1 s study neurons preoptical pre optical interneurons cortex 1 (CNVs 17q12q2 6Mb 56 5. 52740 109x3 34,815,52740,213.109x 3481552740213109x 34815527 34,815,52 40213109 40,213.10 81 52 21 17q 17q12q 5274 109x 3481552 34,815,5 4021310 40,213.1 8 348155 34,815, 402131 40,213. 34815 34,815 40213 40,213 3481 34,81 4021 40,21 348 34,8 402 40,2 34, 40,

https://doi.org/10.1590/1984-0462/2023/41/2021387

Genetics of COVID-19
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Raskin, Salmo

Jornal de Pediatria

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aug 2021, Volume 97 N. 4 Pages 378 - 386

Abstract: En | Text: En | PDF: En

Abstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of therapies. Data source A literature search was conducted on MEDLINE, BioRxiv, and SciELO, as well as a manual search on the internet (mainly in 2019 and 2020) using the keywords “COVID-19,” “SARS-CoV-2,” “coronavirus,” “genetics,” “molecular,” “mutation,” “vaccine,” “Brazil,” “Brasil,” and combinations of these terms. The keywords “Brazil” and “Brasil” were used to find publications that were specific to the Brazilian population’s molecular epidemiology data. Articles most relevant to the scope were selected non-systematically. Data synthesis A number of publications illustrate an expanding knowledge on the genetics and genomics of SARS-CoV-2 and its implications for understanding COVID-19. Conclusions Knowledge of the SARS-CoV-2 genome sequence permits an in-depth investigation of the role its proteins play in the pathophysiology of COVID-19, which in turn will be enormously valuable for understanding the evolutionary, clinical, and epidemiological aspects of this disease and focusing on prevention and treatment.

https://doi.org/10.1016/j.jped.2020.09.002 381 downloads

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
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NOVIS, Luiz Eduardo

; SPITZ, Mariana

; JARDIM, Marcia

; RASKIN, Salmo

; TEIVE, Hélio A. G.

Arquivos de Neuro-Psiquiatria

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sep 2020, Volume 78 N. 9 Pages 576 - 585

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

RESUMO As ataxias cerebelares autossômicas dominantes (ACAD) são doenças heterogêneas com fenótipo e genótipo altamente variáveis. Podem ser divididas em ataxia episódica e ataxia espinocerebelar (SCA), sendo este último considerado o protótipo do ACAD. A maior parte das ACAD são causadas por expansões de poliglutaminas, principalmente SCA 1, 2, 3, 6, 7, 17 e atrofia dentatorubro-palidoluisiana (DRPLA). No entanto, 30% dos pacientes permanecem sem diagnóstico após o teste para essas SCA mais comuns. Recentemente, vários estudos têm demonstrado que a nova geração de métodos de sequenciamento são ferramentas úteis para o diagnóstico desses pacientes. Esta é uma revisão sistemática da literatura, com foco em sua utilidade na prática clínica e em perspectivas futuras.

ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.

https://doi.org/10.1590/0004-282x20200017 603 downloads

Brazilian guidelines for the diagnosis and treatment of cystic fibrosis
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Athanazio, Rodrigo Abensur

; Silva Filho, Luiz Vicente Ribeiro Ferreira da

; Vergara, Alberto Andrade

; Ribeiro, Antônio Fernando

; Riedi, Carlos Antônio

; Procianoy, Elenara da Fonseca Andrade

; Adde, Fabíola Villac

; Reis, Francisco José Caldeira

; Ribeiro, José Dirceu

; Torres, Lídia Alice

; Fuccio, Marcelo Bicalho de

; Epifanio, Matias

; Firmida, Mônica de Cássia

; Damaceno, Neiva

; Ludwig-Neto, Norberto

; Maróstica, Paulo José Cauduro

; Rached, Samia Zahi

; Melo, Suzana Fonseca de Oliveira

; Pinto, Leonardo Araújo

; Monte, Luciana Freitas Velloso

; Higa, Laurinda Yoko Shinzato

; Folescu, Tania Wrobel

; Marson, Fernando Augusto de Lima

; Sad, Isabela

; Servidoni, Maria de Fátima Correa Pimenta

; Kussek, Paulo

; Raskin, Salmo

; Zuana, Adriana Della

; Augustin, Albin

; Hoffmann, Anneliese

; Barbisan, Beatriz

; Hochhegger, Bruno

; Levy, Carlos Emilio

; Veiga, Claudine Sarmento da

; Ricachinevsky, Claudio

; Esposito, Concetta

; Escuissato, Dante

; Brandemburgo, Diego

; Marques, Elisabeth

; Aquino, Evanirso de

; Fischer, Gilberto Bueno

; Rodrigues, Joaquim Carlos

; Machado, Leticia

; Muramato, Lucia

; Costa, Lusmaia Damasceno Camargo

; Donadio, Marcio

; Castro, Marcos César Santos de

; Ribeiro, Maria Angela

; Santana, Maria Angélica

; Canan, Mariane

; Almeida, Marina Buarque de

; Britto, Murilo

; Dalcin, Paulo Roth Tarso

; Ramos, Regina Terse Trindade

; Chiba, Sonia

; Martins, Valéria de Carvalho

; Lacerda, Claudine

; Barbosa, Eliana

; Guimarães, Elizabet Vilar

; Hessel, Gabriel

; Gurmini, Jocemara

; Neri, Lenycia

; Nogueira, Marcelo Coelho

; Wayhs, Mônica Chang

; Simon, Miriam Isabel Santos

; Fernandes, Arlene Gonçalves dos Santos

; Silva, Claudia de Castro de

; Albuquerque, Cristiano Túlio Maciel

; Souza, Edna Lúcia

; Silva, Fernando Antonio de Abreu e

; Dalcin, Paulo de Tarso

; Noronha, Renata Maria de

; Teixeira, Ricardo

; Machado, Sandra Helena

; Camargo, Spencer Marcantonio

; Rozov, Tatiana

; Rodrigues, Ticiana da Costa

Jornal Brasileiro de Pneumologia

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jun 2017, Volume 43 N. 3 Pages 219 - 245

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

RESUMO A fibrose cística (FC) é uma doença genética autossômica recessiva caracterizada pela disfunção do gene CFTR. Trata-se de uma doença multissistêmica que ocorre mais frequentemente em populações descendentes de caucasianos. Nas últimas décadas, diversos avanços no diagnóstico e tratamento da FC mudaram drasticamente o cenário dessa doença, com aumento expressivo da sobrevida e qualidade de vida. Atualmente, o Brasil dispõe de um programa de ampla cobertura para a triagem neonatal de FC e centros de referência distribuídos na maior parte desses estados para seguimento dos indivíduos. Antigamente confinada à faixa etária pediátrica, tem-se observado um aumento de pacientes adultos com FC tanto pelo maior número de diagnósticos de formas atípicas, de expressão fenotípica mais leve, assim como pelo aumento da expectativa de vida com os novos tratamentos. Entretanto, ainda se observa uma grande heterogeneidade no acesso aos métodos diagnósticos e terapêuticos para FC entre as diferentes regiões brasileiras. O objetivo dessas diretrizes foi reunir as principais evidências científicas que norteiam o manejo desses pacientes. Um grupo de 18 especialistas em FC elaborou 82 perguntas clínicas relevantes que foram divididas em cinco categorias: características de um centro de referência; diagnóstico; tratamento da doença respiratória; tratamento gastrointestinal e nutricional; e outros aspectos. Diversos profissionais brasileiros atuantes na área da FC foram convidados a responder as perguntas formuladas pelos coordenadores. A literatura disponível foi pesquisada na base de dados PubMed com palavras-chave, buscando-se as melhores respostas às perguntas dos autores.

ABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.

https://doi.org/10.1590/s1806-37562017000000065 75529 downloads

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3
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Teive, Hélio A. G.

; Moro, Adriana

; Arruda, Walter O.

; Raskin, Salmo

; Teive, Gladys M. G.

; Dallabrida, Norberto

; Munhoz, Renato P.

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oct 2016, Volume 74 N. 10 Pages 858 - 860

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

RESUMO Os autores apresentam uma revisão histórica sobre a ataxia spinocerebelar tipo 3/doença de Machado-Joseph (SCA3/DMJ), que representa a forma de SCA mais comum em nosso país, considerando a alta frequência de casos oriundos de famílias da cidade de Itajaí, no litoral de Santa Catarina, cidade com ascendência portuguesa-açoriana.

ABSTRACT The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.

https://doi.org/10.1590/0004-282x20160125 1836 downloads

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection
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Teive, Hélio Afonso Ghizoni

; Moro, Adriana

; Moscovich, Mariana

; Arruda, Walter Oleskho

; Munhoz, Renato Puppi

; Raskin, Salmo

; Teive, Gladys Mary Ghizoni

; Dallabrida, Norberto

; Ashizawa, Tetsuo

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aug 2015, Volume 73 N. 8 Pages 725 - 727

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

A ataxia espinocerebellar tipo 10 (AEC10) é uma forma rara de ataxia cerebelar autossômica dominante, encontrada predominantemente em pacientes da América Latina, de origem Ameríndia. Os autores relatam a história de famílias com AEC10 do sul do Brasil (estados do Paraná e Santa Catarina), enfatizando a conexão Ameríndia-Belga.

Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.

https://doi.org/10.1590/0004-282X20150086 1892 downloads

10.

Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia
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Camargo, Carlos Henrique F.

; Camargos, Sarah Teixeira

; Raskin, Salmo

; Cardoso, Francisco Eduardo C.

; Teive, Hélio Afonso G.

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oct 2014, Volume 72 N. 10 Pages 753 - 756

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

Tem sido mapeada uma série de genes em pacientes com distonia. O gene TOR1-A (DYT1) foi associado a casos de distonia primária. Objetivo Associar os achados clínicos dos pacientes com distonia com mutações em TOR1-A. Método Foram selecionados 88 pacientes com distonia na região cervical (focal, segmentar, multifocal e generalizada) no Setor de Distúrbios do Movimento do Hospital de Clínicas da Universidade Federal do Paraná entre junho de 2008 e junho de 2009. Esses pacientes foram submetidos à avaliação clínica. O DNA foi extraído do sangue periférico e submetido à análise para mutações em TOR1-A através de protocolos padronizados. Resultados A mutação c.907GAGdel foi encontrada em duas pacientes. Ambas tinham história familiar de distonia e iniciaram seus sintomas pelos membros inferiores, evoluindo com generalização. Conclusão Podemos sugerir que a análise para mutações em TOR1-A deve ser realizada em pacientes com distonia de inicio precoce, história familiar e generalização.

Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.

https://doi.org/10.1590/0004-282X20140123 2196 downloads

11.

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients
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Moro, Adriana

; Munhoz, Renato P.

; Arruda, Walter O.

; Raskin, Salmo

; Moscovich, Mariana

; Teive, Hélio A.G.

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sep 2014, Volume 72 N. 9 Pages 659 - 662

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

A ataxia espinocerebelar do tipo 3 (AEC3) envolve os sistemas cerebelar, piramidal, extrapiramidal, do neurônio motor e oculomotor, com uma grande heterogeneidade fenotípica, o que nos levou a classificar essa desordem em diferentes subtipos clínicos de acordo com o sistema predominantemente afetado. Método Nossa série compreende 167 pacientes com AEC3, pertencentes a 68 famílias, avaliados de 1989 a 2013. Esses pacientes foram classificados em 7 diferentes subtipos. Resultados Os pacientes com AEC3 foram agrupados de acordo com as características clínicas predominantes. As três formas mais comum foram o subfenótipo 2, caracterizado por ataxia e sintomas piramidais, observado em 67,5% dos pacientes, subfenótipo 3 com ataxia e sinais periféricos, em 13,3%, e subfenótipo 6 com síndrome cerebelar pura, em 7,2%. Conclusão Nosso estudo foi o primeiro a classificar sistematicamente AEC3 em sete subtipos. Esta classificação pode ser particularmente útil para correlacionar fenótipo/genótipo com mais especificidade em futuros estudos.

Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized into seven different subphenotypes. Results SCA3 cases were clustered according to the predominant clinical features. Three most common forms were subphenotype 2, characterized by ataxia and pyramidal symptom was observed in 67.5%, subphenotype 3 with ataxia and peripheral signs in 13.3%, and subphenotype 6 with pure cerebellar syndrome in 7.2%. Conclusion Our study was the first to systematically classify SCA3 into seven subphenotypes. This classification may be particularly useful for determination of a more specific and direct phenotype/genotype correlation in future studies.

https://doi.org/10.1590/0004-282X20140129 3872 downloads Cited 2 times in SciELO

12.

Niemann-Pick disease type C: a case series of Brazilian patients
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Lorenzoni, Paulo José

; Cardoso, Elaine

; Crippa, Ana C. S.

; Lourenço, Charles Marques

; Souza, Fernanda Timm Seabra

; Giugliani, Roberto

; Saraiva-Pereira, Maria Luiza

; Raskin, Salmo

; Bruck, Isac

; Kay, Cláudia S. K.

; Scola, Rosana H.

; C.Werneck, Lineu

; Teive, Hélio A. G.

Arquivos de Neuro-Psiquiatria

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mar 2014, Volume 72 N. 3 Pages 214 - 218

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

O objetivo desse estudo foi analisar uma série de casos de pacientes brasileiros com doença de Niemann-Pick tipo C (NP-C). Método Correlação entre manifestações clínicas, alterações laboratoriais, estudo molecular e resposta ao tratamento foram realizadas. Resultado A amostra consiste de 5 pacientes com idade entre 8 e 26 anos. Paralisia do olhar vertical supranuclear, ataxia cerebelar, demência, distonia e disartria estavam presentes em todos os casos. Coloração de filipina na cultura de fibroblastos mostrou padrão “clássico” em dois pacientes e padrão “variante” em três casos. O estudo molecular encontrou mutações no gene NPC1 em todos os alelos. O tratamento com miglustate foi realizado em 4 pacientes. Conclusão Embora coloração de filipina seja utilizada para confirmar o diagnóstico, o histiócito azul-marinho no aspirado de medula óssea frequentemente auxilia a confirmar o diagnóstico de NP-C. A mutação p.P1007A está correlacionada com o padrão “ variante” na coloração de filipina. A resposta ao tratamento com miglustate parece estar correlacionada com a idade e escore de desabilidade no momento do diagnóstico.

The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin staining showed the “classical” pattern in two patients and a “variant” pattern in three patients. Molecular analysis found mutations in the NPC1 gene in all alleles. Miglustat treatment was administered to 4 patients. Conclusion Although filipin staining should be used to confirm the diagnosis, bone marrow sea-blue histiocytes often help to diagnosis of NP-C. The p.P1007A mutation seems to be correlated with the “variant” pattern in filipin staining. Miglustat treatment response seems to be correlated with the age at disease onset and disability scale score at diagnosis.

https://doi.org/10.1590/0004-282X20130249 7066 downloads

13.

Cervical dystonia: about familial and sporadic cases in 88 patients
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Camargo, Carlos Henrique F.

; Camargos, Sarah Teixeira

; Becker, Nilson

; Munhoz, Renato Puppi

; Raskin, Salmo

; Cardoso, Francisco Eduardo C.

; Teive, Hélio Afonso G.

Arquivos de Neuro-Psiquiatria

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feb 2014, Volume 72 N. 2 Pages 107 - 113

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

A distonia cervical (CD) afeta a musculatura do pescoço de modo focal ou em combinação com outras partes do corpo. O objetivo deste estudo foi identificar diferenças clínicas entre pacientes com distonia com história familiar e pacientes sem história familiar (esporádicos). Foram selecionados 88 pacientes com DC no Setor de Distúrbios do Movimento entre julho de 2008 e junho de 2009. Somente os pacientes sem diagnóstico etiológico foram admitidos para análise. A idade de início dos sintomas foi mais tardia em pacientes com distonia focal e segmentar do que em pacientes com distonia generalizada (p<0,001). A gravidade dos sintomas foi maior em pacientes com distonia focal esporádicos do que naqueles com história familiar (p<0,01). Os casos generalizados foram mais graves nos pacientes com história familiar (p<0,01). Pacientes esporádicos tiveram níveis maiores de dor em relação aos casos familiares (p<0,05). Esperamos apresentar em breve resultados de análises genéticas desses pacientes.

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

https://doi.org/10.1590/0004-282X20130225 3471 downloads

14.

Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene
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Bem, Ricardo Schmitt de

; Raskin, Salmo

; Muzzillo, Dominique Araujo

; Deguti, Marta Mitiko

; Cancado, Eduardo Luiz Rachid

; Araujo, Thiago Ferreira

; Nakhle, Maria Cristina

; Barbosa, Egberto Reis

; Munhoz, Renato Puppi

; Teive, Helio Afonso Ghizoni

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aug 2013, Volume 71 N. 8 Pages 503 - 507

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

OBJETIVO: A doença de Wilson (DW) é um erro inato do metabolismo causado por abnormalidades no gene ATP7B, que codifica uma proteína transportadora de cobre. Neste estudo, avaliamos as mutações do gene ATP7B em um grupo de pacientes do sul do Brasil. MÉTODOS: Foram estudados 36 pacientes com DW e classificados do ponto de vista clínico e epidemiológico. Em 23 pacientes, o gene ATP7B foi analisado. RESULTADOS: A substituição c.3207C>A no éxon 14 foi a mutação mais comum seguida pela mutação c.3402delC no éxon 15 . A mutação c.2018-2030del13 no éxon 7 e a c.4093InsT no éxon 20 são relatadas pela primeira vez na literatura. CONCLUSÃO: A mutação do gene ATP7B, com a substituição c.3207C>A no éxon 14 foi a mais frequente. Esta mutação é a mais comumente encontrada em pacientes europeus.

OBJECTIVE: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

https://doi.org/10.1590/0004-282X20130078 3909 downloads Cited 1 time in SciELO

15.

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias
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Moro, Adriana

; Munhoz, Renato Puppi

; Arruda, Walter Oleschko

; Raskin, Salmo

; Teive, Hélio Afonso Ghizoni

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jul 2013, Volume 71 N. 7 Pages 428 - 430

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

ObjetivoInvestigar a relevância do achado clínico de bulging eyes (BE) em uma grande amostra brasileira de pacientes com ataxias espinocerebelares (AEC), para avaliar sua importância no diagnóstico diferencial entre as AEC.MétodosForam avaliados 369 pacientes de 168 famílias brasileiras com AEC através de exame neurológico e testes de genética molecular. BE foi caracterizado pela presença de retração palpebral. AEC3 foi determinada geneticamente em 167 pacientes, AEC10 em 68 pacientes, AEC2 em 20, AEC1 em 9, AEC7 em 6 e AEC6 foi encontrada em 3 pacientes.ResultadosBE foi detectado em 123 pacientes com AEC (33,3%), correspondendo a 109 dos 167 pacientes com AEC3 (65,3%) e 5 pacientes com outras AEC (1 paciente com AEC10, 2 AEC1 e 2 pacientes com AEC2).ConclusãoBE foi detectado na maioria dos pacientes com AEC3 (65,3%) e poderia ser usado com uma ferramenta clínica para o diagnóstico diferencial das AEC.

ObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients.ResultsBE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients).ConclusionBE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.

https://doi.org/10.1590/0004-282X20130056 2861 downloads

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