Search results for "ESA"
showing 10 items of 11914 documents
The obsolescent renal glomerulus ? Collapse, sclerosis, hyalinosis, fibrosis
1977
By light and electron microscopical examination it is shown that four structural components can contribute to obsolescent glomeruli: capillary basement membranes, enriched mesangium matrix, “vascular” hyalin and collagen fibers. Each of these components can bring about glomerular damage alone. One non-reactive form — a glomerular collapse with only basement membrane remnants — can be separated from three reactive forms: the accumulation of mesangium matrix (sclerosis or matrix-sclerosis), deposition of vascular hyalin (hyalinosis in the narrow sense), and fiber development within the former urinary space (fibrosis or fibro-sclerosis). The use of the term “fibrinoid” in place of the descript…
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developme…
2019
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise breakpoints of balanced chromosomal rearrangements at the molecular level in patients with intellectual disability and/or congenital anomalies.MethodsBreakpoints were characterised by a paired-end low depth whole genome sequencing (WGS) strategy and validated by Sanger sequencing. Expression study of disrupted and neighbouring genes was performed by RT-qPCR from blood or lymphoblastoid cell line RNA.ResultsAmong the 55 pat…
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
2016
Background Severe hypertriglyceridemia (HTG) may result from mutations in genes affecting the intravascular lipolysis of triglyceride (TG)-rich lipoproteins. Objective The aim of this study was to develop a targeted next-generation sequencing panel for the molecular diagnosis of disorders characterized by severe HTG. Methods We developed a targeted customized panel for next-generation sequencing Ion Torrent Personal Genome Machine to capture the coding exons and intron/exon boundaries of 18 genes affecting the main pathways of TG synthesis and metabolism. We sequenced 11 samples of patients with severe HTG (TG>885 mg/dL–10 mmol/L): 4 positive controls in whom pathogenic mutations had pre…
Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation
2015
Mutations in the HSJ1 ( Heat-Shock Protein J1 ) gene, also called DNAJB2 (DnaJ (Hsp40) homologue, subfamily B, member 2), have been recently described as a cause of hereditary neuropathies. The HSJ1 c.352+1G>A mutation in homozygote state has been reported as the causative mutation in a single family with autosomal recessive distal hereditary motor neuropathy (dHMN).1 Since then, two other families with different HSJ1 mutations have been described: one with a dHMN phenotype and the other with a Charcot-Marie-Tooth disease type 2 (CMT2) phenotype.2 We identified the HSJ1 c.352+1G>A mutation in 10 patients who underwent long-lasting follow-up. We describe their phenotype and clinical evolutio…
Hereditary angioedema with a mutation in the plasminogen gene
2017
Background Hereditary angioedema (HAE) with normal C1-INH (HAEnCI) may be linked to specific mutations in the coagulation factor 12 (FXII) gene (HAE-FXII) or functional mutations in other genes that are still unknown. We sought to identify and characterize a hitherto unknown type of HAE with normal C1-INH and without mutation in the F12 gene. Methods The study comprised analysis of whole-exome sequencing, Sanger sequencing, and clinical data of patients. Results We detected a mutation in the plasminogen (PLG) gene in patients with HAEnCI. The mutation c.9886A>G was located in exon 9 leading to the missense mutation p.Lys330Glu (K330E) in the kringle 3 domain of the PLG protein. The mutation…
Renal disease associated with myeloproliferative neoplasms and myelodysplastic syndrome/myeloproliferative neoplasms
2020
Aims Renal changes in patients with myeloproliferative neoplasms (MPNs) or myelodysplastic syndrome (MDS)/MPNs have been addressed by few, respectively no, reports. The aim of this study was to focus on a systematic evaluation of renal biopsies in patients with MPNs or MDS/MPNs. Methods and results The cohort comprised 29 patients (23 men) aged 67 ± 11 years (mean ± standard deviation), diagnosed with chronic myeloid leukaemia (n = 5), polycythaemia vera (n = 9), primary myelofibrosis (n = 5), essential thrombocythaemia (n = 2), or chronic myelomonocytic leukaemia (n = 4), as well as MPNs or MDS/MPNs not otherwise specified (n = 4). Patients manifested with proteinuria (93%), partially in t…
Role clarity, fairness, and organizational climate as predictors of sickness absence: a prospective study in the private sector.
2005
Aims: The majority of the research on the effects of the psychosocial work environment on sickness absenteeism has focused on components of job strain and social support among public sector employees without stratification by socioeconomic status. The authors examined less-studied work-related psychosocial predictors of sickness absence in the private sector by socioeconomic status. Methods: Questionnaire data on psychosocial factors at work were used to predict the rates of recorded short (1 - 3 days), long (4 - 21 days), and very long (over 21 days) sickness absences among 3,850 white- and blue-collar male and female employees in a large-scale enterprise. Multivariate Poisson regression …
A case of bowel schistosomiasis not adhering to endoscopic findings
2005
Schistosomiasis is a chronic worm infection caused by a species of trematodes, the Schistosomes. We may distinguish a urinary form from Schistosomes haematobium and an intestinal-hepatosplenic form mainly from Schistosomes mansoni characterized by nausea, meteorism, abdominal pain, bloody diarrhea, rectal tenesmus, and hepatosplenomegaly. These infections represent a major health issue in Africa, Asia, and South America, but recently S mansoni has increased its prevalence in other continents, such as Europe countries and North America, due to international travelers and immigrants, with several diagnostic and prevention problems. We report a case of a 24-year-old patient without HIV infecti…
Comparison between Spanish young and elderly people evaluated using Rivermead Behavioural Memory Test
2010
The first objective of this work was to compare scores obtained in the daily memory function between young and elderly people, and to check whether there are differences between the groups for each of the profile scores obtained in the memory test. A second aim of this paper is to study the relationship between everyday memory and age, while controlling for gender and educational level. The total and profile scores obtained in the Rivermead Behavioural Memory Test were compared in a sample of 60 young and 120 elderly people from Valencia (Spain). Results showed significant differences between the two groups: those between 18 and 30 years obtained a higher average than those over 65. Once th…
Quantitative investigations on the human entorhinal area: left-right asymmetry and age-related changes
1994
The total nerve cell numbers in the right and in the left human entorhinal areas have been calculated by volume estimations with the Cavalieri principle and by cell density determinations with the optical disector. Thick gallocyanin-stained serial frozen sections through the parahippocampal gyrus of 22 human subjects (10 female, 12 male) ranging from 18 to 86 years were analysed. The laminar composition of gallocyanin (Nissl)-stained sections could easily be compared with Braak's (1972, 1980) pigmentoarchitectonic study, and Braak's nomenclature of the entorhinal laminas was adopted. Cell-sparse laminae dissecantes can more clearly be distinguished in Nissl than in aldehydefuchsin preparati…