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284 results on '"Zen, Paulo Ricardo Gazzola"'

1. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

Author

de Oliveira, Bibiana Mello, Bernardi, Filipe Andrade, Baiochi, João Francisco, Neiva, Mariane Barros, Artifon, Milena, Vergara, Alberto Andrade, Martins, Ana Maria, Grumach, Anete Sevciovic, Acosta, Angelina Xavier, Husny, Antonette Souto El, de Freitas Rodrigues Ribeiro, Bethania, Ramos, Camila Ferreira, Steiner, Carlos Eduardo, Kim, Chong Ae, Christofolini, Denise Maria, Yamada, Diego Bettiol, Carvalho, Ellaine Doris Fernandes, Ribeiro, Erlane Marques, de Arruda Bastos, Fabíola, Serpa, Faradiba Sarquis, Brandão, Flávia Reseda, Adjuto, Giselle Maria Araujo Felix, Carvalho, Isabelle, Saute, Jonas Alex Morales, Junior, Juan Clinton Llerena, Bueno, Larissa Souza Mario, da Silva, Luiz Carlos Santana, Santos, Mara Lucia Schmitz Ferreira, Costa, Marcela Câmara Machado, Giusti, Marcia Maria Costa Giacon, Galera, Marcial Francis, Filho, Márcio Eloi Colombo, de Andrade, Maria Denise Fernandes Carvalho, De Oliveira Cardoso, Maria Teresinha, de Menezes Ferreira, Marilaine Matos, Zeny, Michelle, Caldato, Milena Coelho Fernandes, Sorte, Ney Boa, Musolino, Nina Rosa de Castro, de Medeiros, Paula Frassinetti Vasconcelos, Zen, Paulo Ricardo Gazzola, Da Silva, Raquel Tavares Boy, Maia, Rayana Elias, Fock, Rodrigo, Almeida, Rosemarie Elizabeth Schimidt, Valle, Solange Oliveira Rodrigues, Amorim, Tatiana, Teixeira, Thaís Bomfim, Prazeres, Vania Mesquita Gadelha, de Faria Ferraz, Victor Evangelista, Lima, Vinicius Costa, Paiva, Wagner José Martins, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, and Félix, Têmis Maria

Published
2024
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5. What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.

Author

Mergener, Rafaella, Nascimento, Lívia Polisseni Cotta, Böttcher, Ana Kalise, Nunes, Marcela Rodrigues, and Zen, Paulo Ricardo Gazzola

Subjects
GENETIC testing, DIAGNOSIS methods, GENETICS, TERMS & phrases, SYNDROMES
Abstract

What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of diseases or alterations. With the advancement of knowledge and the emergence of new technologies, the use of basic concepts is being done in a mistaken or often confusing way. Because of this, revisiting and readjusting the old terms becomes imminent. Here, we explore these concepts and their use, through a literature compilation of an already well‐defined genetic alteration (16q11.2 microduplication). We bring comparisons in clinical and molecular scope of the alteration itself and its diagnostic methods, to improve the report of cases, rescuing terminologies and their applicability nowadays. Significance Statement: In the genomic era, where genetic tests and diagnostic technologies are advancing rapidly, the correct classification of certain pathologies is essential. For this, revisiting and readjustment of terms becomes imminent. Here, we analyze 16p11.2 microduplication cases and use the data to support a discussion about the use of some classic clinical terms, proposing a new point of view in descriptive care, related to both technological interpretation and expression. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Alcohol consumption during pregnancy by women from southern Brazil: a cross-sectional study.

Author

Zottis, Laira Francielle Ferreira, Souza, Mateus Arenhardt de, Hartmann, Jéssica Karine, Gama, Thiago Kenji Kurogi, Rizental, Laís Borges, Maciel, Anita Machado, Gresele, Merialine, Rosa, Ernani Bohrer da, Nunes, Maurício Rouvel, Rocha, Juliana Trevisan da, Telles, Jorge Alberto Bianchi, Cunha, André Campos da, Zen, Paulo Ricardo Gazzola, and Rosa, Rafael Fabiano Machado

Published
2024
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8. Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

Author

Deconte, Desirée, Diniz, Bruna Lixinski, Hartmann, Jéssica K., de Souza, Mateus A., Zottis, Laira F. F., Zen, Paulo Ricardo Gazzola, Rosa, Rafael F. M., and Fiegenbaum, Marilu

Subjects
JOUBERT syndrome, DYSPLASIA, PHENOTYPES, MOLECULAR diagnosis, SYNDROMES, GENETIC disorders
Abstract

KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies' clinical features are often overlapped despite differing in phenotype severity. Besides KIAA0586, HYLS1 and KIF7 are also known for being causative of ciliopathies, indicating that all three genes may have similar or converging genomic pathways. Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of disorders' molecular pot. In this case report we discuss the first Brazilian individual clinically diagnosed with hydrolethalus syndrome and molecular findings that demonstrate the role of KIAA0586 as a causative gene of a group of genetic disorders. Also, recent reports on individuals with intronic and exonic variants combined leading to ciliopathies support our patient's molecular diagnosis. At the same time, we discuss variable expressivity and overlapping features in ciliopathies. [ABSTRACT FROM AUTHOR]

Published
2024
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9. invdup(8)(8q24.13q24.3)—A Complex Alteration and Its Clinical Consequences.

Author

Mergener, Rafaella, Nunes, Marcela Rodrigues, Böttcher, Ana Kalise, Siqueira, Monique Banik, Peruzzo, Helena Froener, Merola, Milene Carvalho, Riegel, Mariluce, and Zen, Paulo Ricardo Gazzola

Subjects
CLEFT lip, SYMPTOMS, CHILD development, LEARNING disabilities, GENETIC variation
Abstract

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study

Author

da Rosa, Ernani Bohrer, primary, Correia, Jamile Dutra, additional, Silveira, Daniélle Bernardi, additional, Nunes, Mauricio Rouvel, additional, Gresele, Merialine, additional, Dallagnol, Miriam Elisa, additional, Ziliotto, Marieli Barp, additional, Rosa, Rafael Fabiano Machado, additional, and Zen, Paulo Ricardo Gazzola, additional

Published
2023
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12. 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

Author

Nascimento, Lívia Polisseni Cotta, primary, Mergener, Rafaella, additional, Nunes, Marcela Rodrigues, additional, Muniz, Victória Feitosa, additional, Catao, Juliana Rossi, additional, Silveira, Ana Kalise Böttcher da, additional, Dorfman, Luiza Emy, additional, Graziadio, Carla, additional, and Zen, Paulo Ricardo Gazzola, additional

Published
2023
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13. Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study.

Author

da Rosa, Ernani Bohrer, Correia, Jamile Dutra, Silveira, Daniélle Bernardi, Nunes, Mauricio Rouvel, Gresele, Merialine, Dallagnol, Miriam Elisa, Ziliotto, Marieli Barp, Rosa, Rafael Fabiano Machado, and Zen, Paulo Ricardo Gazzola

Abstract

Background: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM. Methods: This is a case–control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil. Mothers' data were obtained using questionnaires and by reviewing medical records. The sample consisted of 43 patients with CM (cases) and 129 patients without evidence of malformations (controls), paired by sex, totaling three controls for each case. Data analysis was performed using the two‐tailed Fisher's exact test, Pearson's chi‐square test, and the t‐test. Results: We identified several factors associated with the development of CM, including the use of abortion methods by the mothers of these babies (p =.001), maternal diabetes (p =.009), advanced maternal age (p =.035), and a history of vaginal bleeding (p <.001). Furthermore, these patients exhibited a tendency to be born prematurely (p =.027), with low birth weight (p =.007), and lower Apgar scores (p =.003) when compared to healthy infants. Using a multivariate model, the use of abortion methods (p =.003) and vaginal bleeding (p =.032) remained independently associated with craniofacial microsomia. Conclusions: We have identified several risk factors for the development of CM, including a propensity for premature birth, low birth weight, and respiratory difficulties. Additionally, women of advanced maternal age and/or those who used abortion methods and/or have diabetes have a higher risk of giving birth to a baby with CM. This information can be valuable in clinical practice, especially for the prevention of future cases. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Author

Carlotto, Bianca Soares, Deconte, Desirée, Diniz, Bruna Lixinski, Silva, Priscila Ramires da, Zen, Paulo Ricardo Gazzola, and Silva, André Anjos da

Subjects
Literature review, Síndrome de Williams-Beuren, Hibridização in situ fluorescente, Williams syndrome, Williams-Beuren syndrome, Fluorescence in situ hybridization, Síndrome de Williams, Revisão de literatura
Abstract

Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. Data source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. Data synthesis After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. Conclusions: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources. RESUMO Objetivo: Caracterizar todos os casos de síndrome de Williams-Beuren (SWB) diagnosticados por hibridização in situ fluorescente (FISH) desde sua implementação, assim como discutir a relação custo-benefício da metodologia de FISH em países em desenvolvimento. Fontes de dados: Entre janeiro de 1986 e janeiro de 2022 foi realizada uma busca nas bases de dados PubMed (Medical Literature Analysis and Retrieval System Online — Medline) e Scientific Electronic Library Online (SciELO) usando os seguintes termos: síndrome de Williams e hibridização in situ fluorescente. O critério de inclusão utilizado foi conter a descrição detalhada de caso(s) de SWB por FISH. Apenas estudos escritos em inglês, espanhol e português foram incluídos. Trabalhos que apresentavam sobreposição de síndromes/condições genéticas foram excluídos. Síntese dos dados: Após os processos de inclusão, 64 artigos e 205 indivíduos com SWB diagnosticados por meio do método de FISH foram incluídos. O achado mais frequente entre os indivíduos foi a presença de algum tipo de malformação cardíaca (85,4%). A estenose aórtica supravalvar (62,4%) e a estenose pulmonar (30,7%) foram as alterações cardíacas mais descritas. A maioria dos estudos era proveniente dos continentes Europa, Ásia e América do Norte. Conclusões: A presente revisão de literatura reitera que as malformações cardíacas podem ser a chave para o diagnóstico precoce em pacientes com SWB. Ainda, a técnica de FISH parece ser a melhor ferramenta de diagnóstico para os países em desenvolvimento, cujo acesso às novas tecnologias ainda é escasso.

Published
2023

19. Tumor size and prognosis in patients with Wilms tumor

Author

Provenzi, Valentina Oliveira, Rosa, Rafael Fabiano Machado, Rosa, Rosana Cardoso Manique, Roehe, Adriana Vial, dos Santos, Pedro Paulo Albino, Faulhaber, Fabrízia Rennó Sodero, de Oliveira, Ceres Andréia Vieira, and Zen, Paulo Ricardo Gazzola

Published
2015
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21. Quality of life of patients with neurofibromatosis type 1: scope review protocol

Author

Zen, Paulo Ricardo Gazzola, De Souza, Lucas Paulo, and Diniz, Bruna Lixinski

Abstract

Objective: to map concepts, findings and limitations regarding the quality of life of children, adolescents and young adults with neurofibromatosis type 1. Method: scope review protocol based on Joanna Briggs guidelines. Data search will be performed on PubMed/MEDLINE, EMBASE, Web of Science, Lilacs, CINAHL, Open Gray and Google Scholar platforms. Manuscripts found will be organized using the Rayyan tool to identify and exclude duplicates. Subsequently, the articles and other materials will follow the same tool for screening and selecting eligible studies by two independent researchers, with this entire process described in a flowchart adapted from the PRISMA-ScR Checklist. Data extracted from eligible manuscripts will be presented in tables, charts and flowcharts, as appropriate. The data will be discussed and interrelated, with the purpose of identifying potentialities and limitations regarding the research topic.

Published
2023
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28. Nager syndrome and Pierre Robin sequence

Author

Rosa, Rafael Fabiano Machado, Guimarães, Victória Bernardes, Beltrão, Luciana Amorim, Trombetta, Júlia Santana, Lliguin, Karen Lizeth Puma, de Mattos, Vinicius Freitas, and Zen, Paulo Ricardo Gazzola

Published
2015
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34. Unusual features in a child with Marshall-Smith syndrome due to a novel NFIX variant: Evidence for an abnormal protein function

Author

Deconte, Desirée, primary, dos Santos, Catarine Benta Lopes, additional, de Morais, Camila Ohomoto, additional, Yonamine, Tatiane Mayumi, additional, Nogueira, Letícia Thaís, additional, Ferreira, Maria Angélica Tosi, additional, Franceschi, Vinícius Bonetti, additional, Longhi, André Luís Soares, additional, Villacis, Rolando André Rios, additional, Rogatto, Silvia Regina, additional, Ligabue-Braun, Rodrigo, additional, Zen, Paulo Ricardo Gazzola, additional, Rosa, Rafael Fabiano Machado, additional, and Fiegenbaum, Marilu, additional

Published
2021
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35. Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy

Author

Ferreira, Maria Angélica Tosi, Gonzales, João Francisco de Oliveira, Correia, Elisa Pacheco Estima, Rosa, Rosana Cardoso Manique, Zen, Paulo Ricardo Gazzola, and Rosa, Rafael Fabiano Machado

Subjects
Peroxisomal disorders, Magnetic resonance imaging, endocrine system diseases, Transtornos peroxissômicos, Vision disorders, Cegueira cortical, Transtornos da visão, Adrenoleucodistrofia, Blindness, cortical, Adrenoleukodystrophy, Imagem por ressonância magnética
Abstract

X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold. Visual changes may be present, but they often appear later in the disease. We describe here the case of a 9-year-old boy with X-ALD, whose first symptom was visual loss, which began at 8 years of age. His ophthalmologic evaluation revealed no alterations. Shortly thereafter, he suffered a head injury. The magnetic resonance imaging of brain revealed findings that led to the suspicion of X-ALD. The plasma VLCFA dosage confirmed this diagnosis. This report aims toshow that in cases of visual loss with a normal ophthalmic examination, a high index of suspicion should be given for conditions suchas X-ALD, since it affects the cortical routes related to vision. Fundoscopy findings appear late in X-ALD. Resumo A adrenoleucodistrofia ligada ao X (X-ALD) representa um grupo de doenças caracterizadas pelo acúmulo de ácidos graxos de cadeia muito longa (VLCFAs) nos tecidos. Suas manifestações clínicas costumam ser múltiplas. Alterações visuais podem estar presentes, contudo costumam surgir mais tardiamente na doença. Descrevemos aqui o caso de um menino de 9 anos com X-ALD, cujo primeiro sintoma foi perda visual, iniciada aos 8 anos de idade. A sua avaliação oftalmológica não revelou alterações. Pouco tempo depois, ele sofreu um traumatismo craniano. A imagem de ressonância magnética de encéfalo revelou achados que levaram a suspeita de X-ALD. A dosagem dos VLCFAs no plasma confirmou este diagnóstico. Este relato tem como objetivo mostrar que em casos de perda visual com um exame oftalmológico normal, deve-se ter um alto índice de suspeita para condições como a X-ALD, pois a mesma afeta as vias corticais relacionadas à visão. Nessa doença, os achados da fundoscopia aparecem mais tardiamente.

Published
2019

43. Unilateral ocular ptosis in a patient with type 1 neurofibromatosis

Author

Silva, Bruno Custódio, primary, Vargas, Giulia Righetti Tuppini, additional, Hartmann, Jéssica Karine, additional, Zottis, Laira Francielle Ferreira, additional, Souza, Mateus Arenhardt de, additional, Vieira, Maria Isabelle Nakano, additional, Spiller, Guilherme Rocha, additional, Zen, Paulo Ricardo Gazzola, additional, and Rosa, Rafael Fabiano Machado, additional

Published
2021
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49. Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Author

Diniz, Bruna Lixinski, additional, Santos, Andressa Schneiders, additional, Glaeser, Andressa Barreto, additional, Guaraná, Bruna Baierle, additional, Lorea, Cláudia Fernandes, additional, Josahkian, Juliana Alves, additional, Huber, Janaína, additional, Rosa, Rafael Fabiano Machado, additional, and Zen, Paulo Ricardo Gazzola, additional

Published
2020
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