Search results for "MUTATION"
showing 10 items of 2830 documents
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
2020
Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020
Abstract Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-makin…
Trouble always comes in threes: three mutations for three auto inflammatory genes in a child and in his father
2014
The coexistence of mutations in more than one gene, linked to Autoinflammatory Diesases, can confuse and make difficult the diagnosis and management of these patients, especially in childhood, when the clinical history is still brief.
Nonsense-mediated decay mechanism is a possible modifying factor of clinical outcome in nonsense cd39 beta thalassemia genotype
2012
Nonsense-mediated mRNA decay (NMD) is a surveillance system to prevent the synthesis of non-functional proteins. In β-thalassemia, NMD may have a role in clinical outcome. An example of premature translation stop codons appearing for the first time is the β-globin cd39 mutation; when homozygous, this results in a severe phenotype. The aim of this study was to determine whether the homozygous nonsense cd39 may have a milder phenotype in comparison with IVS1,nt110/cd39 genotype. Genotypes have been identified from a cohort of 568 patients affected by β-thalassemia. These genotypes were compared with those found in 577 affected fetuses detected among 2292 prenatal diagnoses. The…
Single Peptide Backbone Surrogate Mutations to Regulate Angiotensin GPCR Subtype Selectivity
2020
Mutating the side-chains of amino acids in a peptide ligand, with unnatural amino acids, aiming to mitigate its short half-life is an established approach. However, it is hypothesized that mutating specific backbone peptide bonds with bioisosters can be exploited not only to enhance the proteolytic stability of parent peptides, but also to tune its receptor subtype selectivity. Towards this end, four [Y]6-Angiotensin II analogues are synthesized where amide bonds have been replaced by 1,4-disubstituted 1,2,3-triazole isosteres in four different backbone locations. All the analogues possessed enhanced stability in human plasma in comparison with the parent peptide, whereas only two of them a…
Las matemáticas del cubo de Rubik
2013
[ES] En este artículo mostramos cómo podemos utilizar el cubo de Rubik para presentar algunos conceptos básicos de la teoría de grupos y cómo podemos usar esta para resolver el cubo de Rubik.
Two Simple Constructive algorithms for the Distributed Assembly Permutation Flowshop Scheduling Problem
2014
Nowadays, it is necessary to improve the management of complex supply chains which are often composed of multi-plant facilities. This paper proposes a Distributed Assembly Permutation Flowshop Scheduling Problem (DAPFSP). This problem is a generalization of the Distributed Permutation Flowshop Scheduling Problem (DPFSP) presented by Naderi and Ruiz (Comput Oper Res, 37(4):754–768, 2010). The first stage of the DAPFSP is composed of f identical production factories. Each center is a flowshop that produces jobs that have to be assembled into final products in a second assembly stage. The objective is to minimize the makespan. Two simple constructive algorithms are proposed to solve the proble…
Transmission of Genetic Properties in Permutation Problems: Study of Lehmer Code and Inversion Table Encoding
2021
Solution encoding describes the way decision variables are represented. In the case of permutation problems, the classical encoding should ensure that there are no duplicates. During crossover operations, repairs may be carried out to correct or avoid repetitions. The use of indirect encoding aims to define bijections between the classical permutation and a different representation of the decision variables. These encodings are not sensitive to duplicates. However, they lead to a loss of genetic properties during crossbreeding. This paper proposes a study of the impact of this loss both in the space of decision variables and in that of fitness values. We consider two indirect encoding: the …
Scatter Search vs. Genetic Algorithms
2005
The purpose of this work is to compare the performance of a scatter search (SS) implementation and an implementation of a genetic algorithm (GA) in the context of searching for optimal solutions to permutation problems. Scatter search and genetic algorithms are members of the evolutionary computation family. That is, they are both based on maintaining a population of solutions for the purpose of generating new trial solutions. Our computational experiments with four well-known permutation problems reveal that in general a GA with local search outperforms one without it. Using the same problem instances, we observed that our specific scatter search implementation found solutions of a higher …