Thiago Oliveira Silva

Clinical and Genetic Spectrum of ATP1A3 -Related Disorders

Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes, Thiago Yoshinaga Tonholo Silva et autres

Background and ObjectivesATP1A3-related disorders comprise an expanding group of ultra-rare neurologic conditions, classically including rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. However, accumulating reports suggest a broader …

br, Mozambique, uy (code pays fourni par la source)

High frequency of the PPOX p.Arg168His pathogenic variant among Brazilian patients with variegate porphyria

Michelle Abdo Paiva, Anna Paula Paranhos Miranda Covaleski, Thiago Oliveira Silva, Caroline Bittar-Braune et autres

INTRODUCTION: Variegate Porphyria (VP) is the predominant porphyria in South Africa, historically linked to Dutch colonization, and is considered the second most common AHP. Data from Brazil remain scarce. This study aimed to describe the genetic findings in a case series of …

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Nusinersen for type-III spinal muscular atrophy: a 12-month retrospective study in a Brazilian cohort

Vanessa van der Linden, Alessandra Paula de Melo Calado, Gabriela von Linden, João Vitor Duque Porto Valença et autres

Abstract Spinal muscular atrophy (SMA) is a progressive, autosomal recessive motor neuron disorder caused by mutations in the SMN1 gene. While clinical trials in type-I and -II SMA led to the approval of nusinersen for all SMA types, evidence on its long-term …

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A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report

Lívia Maria Ferreira Sobrinho, Thiago Oliveira Silva, Lı́lia Farret Refosco, Soraia Poloni et autres

Glucose transporter type 1 deficiency syndrome (GLUT1) is a genetic condition, most often of autosomal dominant inheritance, and corresponds to a broad spectrum of signs and symptoms due to hypoglycorrhachia, which include seizures, delay in neuropsychomotor development, intellectual disability, movement disorders, dysarthria …

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CONTROLE E INIBIÇÃO DE INCRUSTAÇÃO NO CIRCUITO DE ELUIÇÃO DE OURO COM A TECNOLOGIA SCALETROL PDC 9313

ADRIANO ALVES RIBEIRO, Thiago Oliveira Silva, AUGUSTO LUIS MARUCCI, FERNANDO FURAKAWA

PDF | AS ROTAS DE PROCESSO DE EXTRAçãO DE OURO POR LIXIVIAçãO SãO LARGAMENTE EMPREGADAS PELA SUA EFICIêNCIA E BAIXO CUSTO. NãO OBSTANTE, INDEPENDENTEMENTE DA ROTA SELECIONADA, UM DOS MUITOS DESAFIOS ENCONTRADOS é A FORMAçãO DE INCRUSTAçõES POR CARBONATO DE CáLCIO (CACO3), …

Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review

Júlia Plentz Portich, Aline Sinhorelo Ribeiro, Adriano Nori Rodrigues Taniguchi, Ariane Nádia Backes et autres

BACKGROUND: Erythropoietic protoporphyria (EPP) is a rare inherited disease of heme biosynthesis resulting in the accumulation of protoporphyrin, characterized by liver failure in a minority of cases. Although liver transplant (LT) is the therapeutic strategy for advanced hepatic disease, it does not …

pk, de, us, br (code pays fourni par la source)

KLEBSIELLA PNEUMONIAE E SEU PERFIL DE RESISTÊNCIA AOS ANTIMICROBIANOS

Thiago Oliveira Silva, Tatiane Silva de Carvalho

OBJETIVOS GERAIS: Descrever os mecanismos de resistência da bactéria Klebsiella pneumoniae e seus impactos na saúde pública. OBJETIVOS ESPECÍFICOS: Descrever os aspectos clínicos e epidemiológicos da K. pneumoniae, seu perfil de resistência associada às betalactamases e carbapenemases e à caracterização dos testes …

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall et autres

OBJECTIVE: Human genomics established that pathogenic variation in diverse genes can underlie a single disorder. For example, hereditary spastic paraplegia is associated with >80 genes, with frequently only few affected individuals described for each gene. Herein, we characterize a large cohort of …

us, gb, ca, br, pk, pt, il, nl, iq, pl, Égypte, se, ir, sa, de, it, kw (code pays fourni par la source)

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Medeiros Sebastião et autres

To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Observational, cross‐sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 …

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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei‐Lanzl et autres

ABSTRACT Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in GNPTG encoding the γ-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present with osteoarthritis …

de, br, gb (code pays fourni par la source)

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Laura Adang, Lars Schlotawa, Samuel Groeschel, Christiane Kehrer et autres

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic …

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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

Augusto César Cardoso‐dos‐Santos, Thiago Oliveira Silva, Anderson Silveira Faccini, Thayne Woycinck Kowalski et autres

Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo …

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