Severe Genetic
Mostrando 1-12 de 884 artigos, teses e dissertações.
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1. Pediatric population with cystic fibrosis in the centre of Portugal: candidates for new therapies
Abstract Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the clinical and genetic features of a cohort of pediatric people with CF (PwCF) in the center of Portugal
Jornal de Pediatria. Publicado em: 2022
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2. Stem cell therapy as a potential treatment option for psoriasis
Abstract Psoriasis is a chronic inflammatory dermatological disorder characterized by white scales and clearly demarcated erythematous plaques. The prevalence of psoriasis varies from country to country and can occur at any age, implying that ethnicity, environmental factors, and genetic background all play a role in its onset. According to the World Psorias
Anais Brasileiros de Dermatologia. Publicado em: 2022
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3. Generalized pustular psoriasis (von Zumbusch)
Abstract Generalized pustular psoriasis (von Zumbusch) is a rare and acute eruption characterized by multiple sterile pustules over an erythematous and edematous background, eventually associated with psoriasis vulgaris. Classically, it manifests as a potentially severe systemic picture and demands prompt diagnosis and intervention. The duration of each flar
Anais Brasileiros de Dermatologia. Publicado em: 2022
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4. Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone deficiency (type II), exon 3 skipping results in expression of
Archives of Endocrinology and Metabolism. Publicado em: 2022
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5. DFT, Molecular Docking, and ADME/Tox Screening Investigations of Market-Available Drugs against SARS-CoV-2
A series of drugs was investigated to determine structural, electronic and pharmacological properties, as well as the molecular affinity for the main protease of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The drugs were submitted to density functional theory calculations to optimize structures and predict binding preferences. The optimized
J. Braz. Chem. Soc.. Publicado em: 2021-08
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6. Human Inborn Errors of Immunity (HIEI): predominantly antibody deficiencies (PADs): if you suspect it, you can detect it
Abstract Objective: This minireview gathers the scientific foundations of the literature on genetic errors in the development of the humoral immune system to help pediatricians suspect these defects. Sources: A systemic search using the PubMed MEDLINE database was performed for all Predominantly Antibody Deficiencies (PADs) described in the 2020 IUIS Exper
J. Pediatr. (Rio J.). Publicado em: 2021-04
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7. Combined immunodeficiencies
Abstract Objectives: Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this
J. Pediatr. (Rio J.). Publicado em: 2021-04
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8. Rett syndrome: the Brazilian contribution to the gene discovery
RESUMO Uma breve história de uma síndrome neurológica descoberta por Andreas Rett é relatada neste artigo. Embora tenha ocorrido em 1966, a síndrome só foi reconhecida pela comunidade internacional após um relato de Hagberget al, em 1983. Logo, sua importância ficou evidente como causa relativamente frequente de encefalopatia grave entre as crianças
Arq. Neuro-Psiquiatr.. Publicado em: 10/01/2020
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9. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Abstract 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)], m
J. inborn errors metab. screen.. Publicado em: 05/12/2019
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10. Behavioral variant frontotemporal dementia in patients with previous severe mental illness: a systematic and critical review
RESUMO Objetivos: Explorar a relação entre doença mental grave (DMG) e a variante comportamental da demência frontotemporal (DFTvc), uma vez que os padrões de sintomas e de desempenho cognitivo que caracterizam ambos os transtornos compartilham semelhanças. Métodos: Revisão sistemática investigando estudos publicados sobre a relação entre DFTvc
Arq. Neuro-Psiquiatr.. Publicado em: 23/09/2019
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11. Headache after evaluation with transcranial magnetic stimulation in a healthy participant. Case report
RESUMO JUSTIFICATIVA E OBJETIVOS: Efeitos adversos durante a estimulação não invasiva do cérebro são eventos considerados raros. O objetivo deste estudo foi apresentar um caso de paciente com cefaleia intensa com sinais autonômicos após estimulação magnética transcraniana de pulso único. RELATO DO CASO: Paciente do sexo feminino, 28 anos, saudá
BrJP. Publicado em: 23/09/2019
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12. Practical Assessment of Spaghetti Breast in Diverse Genetic Strain Broilers Reared under Different Environments
ABSTRACT Brazilian processing plants have identified the so-calledspaghetti breast myopathy characterized by muscular dystrophy of unknown etiology. This study aimed at estimating the incidence of spaghetti breast myopathyin broilers from three commercial genetic strains (Ross, Cobb, Hubbard) reared in two different housing systems (DH, Dark house, and TS, T
Braz. J. Poult. Sci.. Publicado em: 19/08/2019