Search results for "specialist"

Canakinumab as first-line biological therapy in Still’s disease and differences between the systemic and the chronic-articular courses: Real-life exp…

2022

ObjectiveInterleukin (IL)-1 inhibitors are largely employed in patients with Still’s disease; in cases with refractory arthritis, IL-6 inhibitors have shown to be effective on articular inflammatory involvement. The aim of the present study is to assess any difference in the effectiveness of the IL-1β antagonist canakinumab prescribed as first-line biologic agent between the systemic and the chronic-articular Still’s disease.MethodsData were drawn from the retrospective phase of the AutoInflammatory Disease Alliance (AIDA) international registry dedicated to Still’s disease. Patients with Still’s disease classified according to internationally accepted criteria (Yamaguchi criteria and/or Fa…

Intolleranza al latte: nuovo algoritmo diagnostico.

2005

Utilità del test di provocazione orale in doppio cieco nell'esclusione della diagnosi di APLV

2009

Intestinal tuberculosis in a child living in a country with a low incidence of tuberculosis : a case report

2014

Background: Relatively common in adults, intestinal tuberculosis is considered rare in children and adolescents. The protean manifestations of intestinal tuberculosis mean that the diagnosis is often delayed (sometimes even for years), thus leading to increased mortality and unnecessary surgery. The main diagnostic dilemma is to differentiate intestinal tuberculosis and Crohn’s disease because a misdiagnosis can have dramatic consequences. Case presentation: A 13-year-old Caucasian, Italian female adolescent attended the Emergency Department complaining of abdominal pain, a fever of up to 38°C, night sweats, diarrhea with blood in stool, and a weight loss of about three kilograms over the p…

Review paper: Seasonal variation as a determinant of population structure in rotifers reproducing by cyclical parthenogenesis

1998

Monogonont rotifers live in habitats that display extensively variation in both biotic and abiotic components. Much of this variation is seasonal and therefore predictable for a given pond or lake. In 1972, King proposed one physiological and two genetic models presenting alternative modes of adaptation to this temporal variation. Our purpose in the present paper is to review and evaluate how our knowledge of the seasonal structure of rotifer populations has changed in the past 25 years. Seasonal changes in clone frequencies have been reported from three studies of natural populations using electrophoretic analysis of isozymes. In one of these studies there was evidence for substantial temp…

Environmental drivers of breeding sites in blackfly species of medical and veterinary importance in eastern Spain

2021

Geographical distribution and abundance of the pupae of six blackfly species of medical and veterinary concern were studied in eastern Spain according to three different sets of explanatory variables including in-stream variables, both (i) abiotic (i.e., physicochemical) and (ii) biotic (i.e., richness and abundance of either taxonomically or ecologically close related taxa), as well as (iii) meteorological and landscape variables. The results showed specific habitat requirements for pupation in Simulium (Boophthora) erythrocephalum (De Geer, 1776) and Simulium (Wilhelmia) equinum (Linnaeus, 1758), two of the six species studied regarding elevation and temperature. While the rest of the spe…

IL-1 BLOCKADE IN PEDIATRIC RECURRENT PERICARDITIS: A MULTICENTRIC RETROSPECTIVE STUDY ON THE ITALIAN COHORT

2019

Background: Acute pericarditis is an inflammatory condition causing the occurrence of pericardial effusion. In a third of patients, the disease is recurrent. Most of the cases are idiopathic or occur after a pericardial procedure. First line treatment of idiopathic pericarditis consists in NSAIDs and colchicine; glucocorticoids represent the second line treatment in resistant or intolerant cases. The use of different biologics and immunosoppressant has been reported, with variable responses. A recent clinical trial has enlightened the effectiveness of anakinra in patients with colchicine-resistant recurrent pericarditis. Objectives: To describe the clinical characteristics and response to t…

Association of developmental coordination disorder and low motor competence with impaired bone health: A systematic review.

2021

Aims Individuals with developmental coordination disorder (DCD) and low motor competence (LMC) may be at increased risk of low bone health due to their lifetime physical activity patterns. Impaired bone health increases an individual’s risk of osteoporosis and fracture; therefore, it is necessary to determine whether a bone health detriment is present in this group. Accordingly, this systematic review explores the association between DCD/LMC and bone health. Methods and Procedures Studies were included with assessment of bone health in a DCD/LMC population. Study bias was assessed using the JBI critical appraisal checklist. Due to heterogeneity, meta-analysis was not possible and narrative …

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

2011

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p…

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

2020

Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…