16 documents found, page 1 of 2
Characterization of the 3'UTR of the BTD gene and identification of regulatory ...
Silva,Gerda Cristal Villalba; Borsatto,Taciane; Schwartz,Ida Vanessa Doederlein; Sperb-Ludwig,FernandaAbstract Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to...
Efficacy of speech therapy in post-intubation patients with oropharyngeal dysph...
Turra,Giovana Sasso; Schwartz,Ida Vanessa Doederlein; Almeida,Sheila Tamanini de; Martinez,Chenia Caldeira; Bridi,MaristelaABSTRACT Purpose to verify the efficacy of speech therapy in the early return of oral intake in patients with post-orotracheal intubation dysphagia. Methods It was a double-blinded randomized controlled trial for two years with patients of intensive care units of a hospital. Study inclusion criteria were orotracheal intubation>48hours, age≥18 years old, clinical stability, and dysphagia. Exclusion criteria were...
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried...
Sebastião,Fernanda Medeiros; Burin,Maira Graeff; Civallero,Gabriel; Tirelli,Kristiane Michelin; Sitta,Angela; Coelho,Daniella de MouraAbstract Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement of Phe in plasma using high-performance liquid chromatography (HPLC) or in dried blood spots (DBS) using different techniques to adjust treatment strategy. The objective of this study w...
Transferrin isoelectric focusing for the investigation of congenital disorders ...
Magalhães,Ana Paula Pereira Scholz de; Burin,Maira Graeff; Souza,Carolina Fischinger Moura de; de Bitencourt,Fernanda HendgesAbstract Objectives: 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. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test du...
Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do th...
Hoss,Giovana Regina Weber; Poloni,Soraia; Blom,Henk J; Schwartz,Ida Vanessa DoederleinAbstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], methylmalonic aciduria with homocystinuria, cblC type (...
Information and Diagnosis Networks – tools to improve diagnosis and treatment f...
Vieira,Taiane Alves; Trapp,Franciele Barbosa; Souza,Carolina Fischinger Moura de; Faccini,Lavínia Schuler; Jardim,Laura BannachAbstract Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information an...
The microbiome and inborn errors of metabolism: Why we should look carefully at...
Colonetti,Karina; Roesch,Luiz Fernando; Schwartz,Ida Vanessa DoederleinAbstract Research into the influence of the microbiome on the human body has been shedding new light on diseases long known to be multifactorial, such as obesity, mood disorders, autism, and inflammatory bowel disease. Although inborn errors of metabolism (IEMs) are monogenic diseases, genotype alone is not enough to explain the wide phenotypic variability observed in patients with these conditions. Genetics an...
Mucopolysaccharidosis: Caregiver Quality of Life
Guarany,Nicole Ruas; Vanz,Ana Paula; Wilke,Matheus Vernet Machado Bressan; Bender,Daniele Dorneles; Borges,Mariana Dumer; Giugliani,RobertoAbstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and friends. Aims: To evaluate the QoL of caregivers of patie...
Adherence to Treatment of Phenylketonuria: A Study in Southern Brazilian Patients
Vieira,Tatiane Alves; Nalin,Tatiéle; Krug,Bárbara Correa; Bittar,Camila Matzenbacher; Oliveira Netto,Cristina BrinckmannAbstract Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center. Methodology: A cross-sectional, outpatient-based study including 56 patients with PKU (median age, 12 years) for whom a Phe-restrict diet plus specific metabolic formula ...
Access to treatment for phenylketonuria by judicial means in Rio Grande do Sul,...
Trevisan,Luciano Mangueira; Nalin,Tatiele; Tonon,Tassia; Veiga,Lauren Monteiro; Vargas,Paula; Krug,Bárbara Corrêa; Leivas,Paulo Gilberto CogoTreatment of phenylketonuria (PKU) includes the use of a metabolic formula which should be provided free of charge by the Unified Health System (SUS). This retrospective, observational study sought to characterize judicial channels to obtain PKU treatment in Rio Grande do Sul (RS), Brazil. Lawsuits filed between 2001- 2010 and having as beneficiaries PKU patients requesting treatment for the disease were includ...