Search results for " Specialist"
showing 10 items of 770 documents
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…
PORCN mutations in focal dermal hypoplasia: coping with lethality.
2009
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
2012
Background: Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. Previous studies have shown that neuronal histone acetylation is reduced in mouse models of RSTS. Methods: The authors identified different mutations at the CREBBP locus and generated lymphoblastoid cell lines derived from nine patients with RSTS carrying distinct CREBBP mutations that illustrate different grades of the clinical severity in the spectrum …
Apolipoprotein E Genotypic Frequencies Among Down Syndrome Patients Imply Early Unsuccessful Aging for ApoE4 Carriers
2007
Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.…