Mutation
Mostrando 1-12 de 21608 artigos, teses e dissertações.
-
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
-
2. Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with is
International Journal of Cardiovascular Sciences. Publicado em: 2022
-
3. When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?
ABSTRACT Objetivo: Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2 diabetes(T2DM). The aim of this study is to evaluate MODY mutations in adult T2DM patients suspicious in terms of MODY, and to show clinical and laboratory differences between these
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
4. Screening for myeloid mutations in patients with myelodysplastic syndromes and AML with myelodysplasia-related changes
ABSTRACT Introduction: One of the most critical complications in myelodysplastic syndromes (MDS) is the progression to acute myeloid leukemia (AML). The dynamics of clonal evolution in MDS and how acquired mutations can be used as biomarkers to track disease progression remains under investigation. Objective and method: Herein, we investigated the frequenc
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
-
5. Basaloid follicular hamartoma associated with follicular mucinosis and inflammation
Abstract Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma. Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene, which is part of the same pathway involved in Gorlin-Goltz syndrome. Here we present a 9-year-old pa
Anais Brasileiros de Dermatologia. Publicado em: 2022
-
6. Darier disease: the use of dermoscopy in monitoring acitretin treatment
Abstract Darier disease is an uncommon autosomal dominant inherited disease, caused by a mutation in the ATP2A2 gene. The clinical findings are hyperkeratotic papules on the trunk, scalp, face, and neck, maceration of intertriginous areas, palmar pits, whitish papules on the oral mucosa and nail abnormalities. The main histopathologic findings are acantholys
Anais Brasileiros de Dermatologia. Publicado em: 2022
-
7. Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
8. The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome
ABSTRACT In the late 19th century, José Dantas de Souza Leite, a physician born in Sergipe, published the first detailed clinical description of acromegaly under the guidance of the French neurologist Pierre Marie. In 2014, the Brazilian Society of Endocrinology and Metabolism created the “José Dantas de Souza Leite Award”, which is granted every two y
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
9. The role of intermittent continuous glucose monitoring in a successful outpatient transition from insulin to glibenclamide in a patient with transient neonatal diabetes
SUMMARY Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring mainly in the first 6 months of life. Approximately 30% of transient NDM (TNDM) cases will have an activating mutation in the KATP channel genes ABCC8 and KCNJ11. The majority of the patients with KCNJ11 mutations who are receiving insulin treatment can be transferred to treat
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
10. Bibliometric analysis of global sickle cell disease research from 1997 to 2017
Abstract Introduction Sickle cell disease is an autosomal recessive genetic disease caused by a single point mutation in the β-globin chain of the hemoglobin. It has been recognized by the World Health Organization as a public health priority since 2006. Methods The Scopus database was used in this study with the search descriptors: “sickle cell” and
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
-
11. Resistance profile of Rhipicephalus (Boophilus) microplus to diazinon and cypermethrin and first report of sodium channel mutation - domain III S6 - T2134A, in field samples from the state of São Paulo, Brazil
RESUMO Rhipicephalus (Boophilus) microplus (Canestrini) é um dos parasitas que mais impactam a pecuária de países tropicais e subtropicais, incluindo o Brasil, com perdas em torno de US$ 3,24 bilhões por ano. Ocorrências de populações resistentes a diferentes classes de acaricidas e suas associações têm sido amplamente diagnosticadas em todo o Bras
Arquivo Brasileiro de Medicina Veterinária e Zootecnia. Publicado em: 2022
-
12. Smudge cells percentage on blood smear is a reliable prognostic marker in chronic lymphocytic leukemia
Abstract Objective We evaluated the relevance of using the smudge cell percentage in the blood smear as a prognostic marker in CLL. Methods In this prospective study, 42 untreated Senegalese patients with CLL were enrolled. The diagnosis was established, based on the peripheral blood count and flow cytometry using the Matutes score. Cytogenetic aberrations
Hematology, Transfusion and Cell Therapy. Publicado em: 2022