Mutations
Mostrando 1-12 de 24437 artigos, teses e dissertações.
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1. 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
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2. Modeling and Computer Simulation of Viscoelastic Crypt Deformation
ABSTRACT Colorectal cancer morphogenesis begins at the cellular level from cell mutations in the intestinal epithelium cavities called crypts. These mutations lead to a pressure difference in the epithelium crypt walls, which can cause deformation and generate visible abnormalities in the epithelium. The geometrical modeling of these crypts and the mathemati
Trends in Computational and Applied Mathematics. Publicado em: 2022
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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
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4. Clinical complications in children with false-negative results in cystic fibrosis newborn screening
Abstract Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newborns was screened in the Institute of Mother and Child in Warsaw within a period of 01.01.1999 – 31
Jornal de Pediatria. Publicado em: 2022
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5. 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
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6. 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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7. Neuraxial block anesthetic technique in a patient with SCN8A encephalopathy: case report
Abstract Mutations in SCN8A gene lead to changes in sodium channels in the brain, which are correlated with severe epileptic syndrome. Due to the rarity, there are few studies that support anesthesia in that population. The present study aims to report alternatives to inhalation anesthesia at epileptic encephalopathy. Case report: Male, 4 years old, with SC
Brazilian Journal of Anesthesiology. Publicado em: 2022
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8. McCune-Albright syndrome - A case report with transmission electron microscopy
Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distributio
Anais Brasileiros de Dermatologia. Publicado em: 2022
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9. Sebaceous nevus of Jadassohn: review and clinical-surgical approach
Abstract Background: Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes. Objective: To describe the clinical manifestat
Anais Brasileiros de Dermatologia. Publicado em: 2022
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10. 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
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11. Lysosomal acid lipase deficiency in pediatric patients: a scoping review
Abstract Objective: Lysosomal acid lipase deficiency (LAL-D) is an underdiagnosed autosomal recessive disease with onset between the first years of life and adulthood. Early diagnosis is crucial for effective therapy and long-term survival. The objective of this article is to recognize warning signs among the clinical and laboratory characteristics of LAL-D
Jornal de Pediatria. Publicado em: 2022
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12. Comparison of clinical characteristics of wild-type SARS-CoV-2 and Omicron
SUMMARY OBJECTIVE: This study aimed to investigate the effect of mutations by comparing wild-type SARS-CoV-2 and Omicron regarding clinical features in patients with COVID-19. It also aimed to assess whether SARS-CoV-2 cycle threshold value could predict COVID-19 severity. METHODS: A total of 960 wild-type and 411 Omicron variant patients with positive res
Revista da Associação Médica Brasileira. Publicado em: 2022