A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-8736-8
Abstract: The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study… read more here.
Keywords: common chrne; chrne mutation; mutation brazilian; congenital myasthenic ... See more keywords
Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.
Sign Up to like & getrecommendations! Published in 2020 at "Metabolic brain disease"
DOI: 10.1007/s11011-020-00632-0
Abstract: Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and… read more here.
Keywords: clinical biochemical; biochemical molecular; gcdh gene; molecular findings ... See more keywords
Mutations in the breakpoint cluster region-Abelson murine leukemia 1 gene in Brazilian patients with chronic myeloid leukemia
Sign Up to like & getrecommendations! Published in 2018 at "Hematology, Transfusion and Cell Therapy"
DOI: 10.1016/j.htct.2018.03.005
Abstract: Introduction Mutations in the breakpoint cluster region-Abelson murine leukemia 1 gene are the leading cause of resistance to treatment with tyrosine kinase inhibitors in chronic myeloid leukemia patients. Mutations have been detected throughout the extension… read more here.
Keywords: myeloid leukemia; kinase; chronic myeloid; gene ... See more keywords
Prevalence of macular abnormalities identified only by optical coherence tomography in Brazilian patients with cataract.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of cataract and refractive surgery"
DOI: 10.1016/j.jcrs.2019.01.022
Abstract: PURPOSE To assess the prevalence of macular abnormalities not suspected by the biomicroscopic fundus examination and identified only by macular optical coherence tomography (OCT) in the preoperative evaluation for cataract surgery in a large series… read more here.
Keywords: optical coherence; abnormalities identified; prevalence macular; coherence tomography ... See more keywords
Macrodetermined racial inequalities in diagnostic testing among tuberculosis patients in Brazil.
Sign Up to like & getrecommendations! Published in 2019 at "Public health"
DOI: 10.1016/j.puhe.2018.11.003
Abstract: OBJECTIVES To estimate the association between tuberculosis (TB) patients' race and patients' access to diagnostic testing in Brazil. In addition, we evaluated if the associations could be explained by a geographic codistribution between racial groups… read more here.
Keywords: tuberculosis patients; diagnostic testing; brazilian patients; afro brazilian ... See more keywords
Sexual dysfunction in Brazilian patients with multiple sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Arquivos de Neuro-Psiquiatria"
DOI: 10.1055/s-0043-1767824
Abstract: Abstract Background People with multiple sclerosis (PwMS) show an increased risk of sexual dysfunction (SD), both in women and men. Objective The aim of the present study was to apply the Multiple Sclerosis Intimacy and… read more here.
Keywords: patients multiple; dysfunction brazilian; sexual dysfunction; brazilian patients ... See more keywords
Association of UCP3 Polymorphisms with Nonalcoholic Steatohepatitis and Metabolic Syndrome in Nonalcoholic Fatty Liver Disease Brazilian Patients.
Sign Up to like & getrecommendations! Published in 2022 at "Metabolic syndrome and related disorders"
DOI: 10.1089/met.2020.0104
Abstract: Background: We investigated the possible association of uncoupling protein 3 gene (UCP3) single nucleotide polymorphisms (SNPs) with nonalcoholic steatohepatitis (NASH) and metabolic syndrome (MetS) in nonalcoholic fatty liver disease (NAFLD) Brazilian patients. Methods: UCP3 SNPs… read more here.
Keywords: nonalcoholic fatty; fatty liver; metabolic syndrome; group ... See more keywords
Genetic profile of Brazilian patients with dystrophinopathies
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12975
Abstract: Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about… read more here.
Keywords: dmd bmd; large deletions; genetic profile; profile ... See more keywords
Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.13986
Abstract: This study proposed to identify Fanconi anemia (FA) mutations in Brazilian patients and to investigate their impact on clinical manifestations and malignancies onset. read more here.
Keywords: anemia genes; investigation mutations; mutations fanconi; brazilian patients ... See more keywords
A Survey of Brazilian Patients with Oral Lichen Planus Showing No Evidence of Malignancy
Sign Up to like & getrecommendations! Published in 2022 at "Dermatology Research and Practice"
DOI: 10.1155/2022/5937540
Abstract: Objectives There is conflicting evidence as to whether oral lichen planus (OLP) can undergo malignant transformation into oral squamous cell carcinoma (OSCC). This study aimed to address this issue by analyzing a sample of Brazilian… read more here.
Keywords: oscc; oral lichen; evidence; lichen planus ... See more keywords
Systemic lupus erythematosus in children and adults: A retrospective study in Brazilian patients
Sign Up to like & getrecommendations! Published in 2021 at "Lupus"
DOI: 10.1177/09612033211010330
Abstract: Background Systemic lupus erythematosus (SLE) may have a different serological and clinical profile according to age of disease onset. Aim To compare clinical presentation and serological data from patients with SLE onset in childhood (cSLE)… read more here.
Keywords: systemic lupus; retrospective study; lupus erythematosus; brazilian patients ... See more keywords