Search results for "clinical heterogeneity"
showing 7 items of 7 documents
Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients.
2018
Abstract Background Neuroblastoma is characterized by substantial clinical heterogeneity. Despite intensive treatment, the survival rates of high-risk neuroblastoma patients are still disappointingly low. Somatic chromosomal copy number aberrations have been shown to be associated with patient outcome, particularly in low- and intermediate-risk neuroblastoma patients. To improve outcome prediction in high-risk neuroblastoma, we aimed to design a prognostic classification method based on copy number aberrations. Methods In an international collaboration, normalized high-resolution DNA copy number data (arrayCGH and SNP arrays) from 556 high-risk neuroblastomas obtained at diagnosis were coll…
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
2011
Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…
Diagnosis of human fascioliasis by stool and blood techniques: update for the present global scenario
2014
SUMMARYBefore the 1990s, human fascioliasis diagnosis focused on individual patients in hospitals or health centres. Case reports were mainly from developed countries and usually concerned isolated human infection in animal endemic areas. From the mid-1990s onwards, due to the progressive description of human endemic areas and human infection reports in developing countries, but also new knowledge on clinical manifestations and pathology, new situations, hitherto neglected, entered in the global scenario. Human fascioliasis has proved to be pronouncedly more heterogeneous than previously thought, including different transmission patterns and epidemiological situations. Stool and blood techn…
Clinico-biological characteristics of patients with myelofibrosis: an analysis of 1,000 cases from the Spanish Registry of Myelofibrosis
2020
BACKGROUND AND OBJECTIVE MYELOFIBROSIS: is an infrequent chronic myeloproliferative neoplasm. We aimed to describe the clinico-biological characteristics, treatment, and evolutive course of myelofibrosis patients in Spain.; MATERIAL AND METHODS: A total of 1,000 patients from the Spanish Registry of Myelofibrosis diagnosed with primary (n=641) or secondary (n=359) myelofibrosis were analysed.; RESULTS: Median age was 68 years. The frequency of constitutional symptoms, moderate to severe anaemia (Hb<10g/dL), and symptomatic splenomegaly was 35%, 36%, and 17%, respectively. The rate of thrombosis and haemorrhage was 1.96 and 1.6 events per 100 patient-years, respectively. The cumulative incid…
Translational Research in Neuroimmunology: Cognition
2021
Cognitive impairment affects up to 70% of patients with multiple sclerosis (MS). It may already be present in the early stages of disease and impedes with a patient’s ability to maintain employment, take part in activities of daily life, and fully participate in society. Similar to the clinical heterogeneity of MS, there is great variability in cognitive symptoms among patients. Given the impact of such deficits on everyday functioning, an increasing interest in diagnosis and treatment of cognitive impairment has arisen. This chapter aims to present an overview of those cognitive domains most commonly affected in MS, common approaches to assess the respective cognitive functions as well as …
Clinical heterogeneity in infantile galactosialidosis
1987
A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the liter…