Search results for "onset."

Direct terrestrial–marine correlation demonstrates surprisingly late onset of the last interglacial in central Europe

2011

AbstractAn interdisciplinary study of a small sedimentary basin at Neumark Nord 2 (NN2), Germany, has yielded a high-resolution record of the palaeomagnetic Blake Event, which we are able to place at the early part of the last interglacial pollen sequence documented from the same section. We use this data to calculate the duration of this stratigraphically important event at 3400 ± 350 yr. More importantly, the Neumark Nord 2 data enables precise terrestrial–marine correlation for the Eemian stage in central Europe. This shows a remarkably large time lag of ca. 5000 yr between the MIS 5e ‘peak’ in the marine record and the start of the last interglacial in this region.

The flight feather moult pattern of the bearded vulture (Gypaetus barbatus)

2015

Moult is an extremely time-consuming and energy-demanding task for large birds. In addition, there is a trade-off between the time devoted to moulting and that invested in other activities such as breeding and/or territory exploration. Moreover, it takes a long time to grow a long feather in large birds, and large birds that need to fly while moulting cannot tolerate large gaps in the wing, but only one or two simultaneously growing feathers. As a consequence, large birds take several years to complete a full moult cycle, and they resume the moult process during suboptimal conditions. A clear example of this pattern is the Bearded Vulture (Gypaetus barbatus), which needs 2-3 years for chang…

Anakinra drug retention rate and predictive factors of long-term response in systemic juvenile idiopathic arthritis and adult onset still disease

2019

Background and Objective: Only a few studies have reported long-term efficacy of interleukin (IL)-1 inhibition in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still disease (AOSD). Herein we report on the effectiveness of anakinra (ANA), expressed in terms of drug retention rate (DRR), and evaluate the predictive factors of drug survival in a cohort of patients with sJIA and AOSD. Patients and Methods: This is a multicenter study reviewing retrospectively the medical records from 61 patients with sJIA and 76 with AOSD, all treated with ANA in 25 Italian tertiary referral centers. Results: The cumulative retention rate of ANA at 12-, 24-, 48-, and 60-month of follow-up was 7…

Management of patients with hereditary angioedema in Germany: comparison with other countries in the Icatibant Outcome Survey

2018

Abstract Background The Icatibant Outcome Survey (IOS; NCT01034969) is a Shire‐sponsored, international, observational study monitoring the safety and effectiveness of icatibant, a bradykinin B2 receptor antagonist approved for the acute treatment of adults with hereditary angioedema with C1 inhibitor deficiency (HAE‐C1‐INH). Objective To report IOS data comparing demographic and icatibant treatment outcomes in patients with HAE‐C1‐INH from Germany to HAE‐C1‐INH patients from 11 other IOS countries. Methods A descriptive, retrospective, comparative analysis of data from 685 IOS patients with HAE‐C1‐INH from seven centres in Germany (n = 93) vs. centres from Austria, Brazil, Czech Republic, …

The CD68+/H-ferritin+ cells colonize the lymph nodes of the patients with adult onset Still's disease and are associated with increased extracellular…

2015

Summary In this work, we aimed to evaluate the levels of ferritin enriched in H subunits (H-ferritin) and ferritin enriched in L subunits (L-ferritin) and the cells expressing these two molecules in the lymph node (LN) biopsies obtained from adult-onset Still's disease (AOSD) patients, and the possible correlation among these data and the severity of the disease. Ten patients with AOSD underwent LN biopsy. All the samples were stained by immunofluorescence. A statistical analysis was performed to estimate the possible correlation among both H-ferritin and L-ferritin tissue expression and the clinical picture of the disease. Furthermore, the same analysis was performed to evaluate the possib…

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

2018

Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old. The results identified the heterozygous pathogenic variant c.248delA (p.N83MfsX4) in the nuclear receptor-binding SET domain protein 1 (NSD1; MIM 606681) gene (rel…

Direct and Inverse Comorbidities Between Complex Disorders

2016

Comorbidity and multimorbidity, defined as the presence of more than one disease in individuals, have emerged as a major challenge in the last decade (Valderas et al., 2009). Indeed, researchers, health professionals, healthcare managers and policy makers, and patients and citizens are lagging behind considering the comorbidity scenario, as illustrated by the paucity of documentation concerning interventions in people with multiple conditions (Smith et al., 2012). There is a clear need to better understand disease-disease relationships, in order to better organize and provide care, but also to develop appropriate research models. We can first characterize direct multimorbidity (higher-than-…

The embryo-placental CD15-positive "vasculogenic zones" as a source of propranolol-sensitive pediatric vascular tumors.

2015

Abstract Objective Propranolol-induced involution is a unique biological feature of some pediatric vascular tumors, for instance infantile hemangioma (IH), cerebral cavernoma or chorioangioma. Currently, the cellular origin of these distinct tumors is unclear. In this study, we tested the hypothesis that propranolol-responsive vascular tumors are derived from common vessel-forming CD15 + progenitor cells which occur in early gestation. The aim of this study was to identify the tumor-relevant CD15 + progenitors at the early stages of embryo-placental development. Materials and methods Human embryo-placental units of 4–8 weeks gestation and pediatric vascular tumors were tested for expression…

How repair-or-dispose decisions under stress can initiate disease progression

2020

Summary Glia, the helper cells of the brain, are essential in maintaining neural resilience across time and varying challenges: By reacting to changes in neuronal health glia carefully balance repair or disposal of injured neurons. Malfunction of these interactions is implicated in many neurodegenerative diseases. We present a reductionist model that mimics repair-or-dispose decisions to generate a hypothesis for the cause of disease onset. The model assumes four tissue states: healthy and challenged tissue, primed tissue at risk of acute damage propagation, and chronic neurodegeneration. We discuss analogies to progression stages observed in the most common neurodegenerative conditions and…

2016

AbstractMyopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed furthe…