Search results for " Specialist"

Development and implementation of the AIDA International Registry for patients with Behçet's disease

2022

AbstractPurpose of the present paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients with Behçet’s disease (BD). The Registry is a clinical physician-driven non-population- and electronic-based instrument implemented for the retrospective and prospective collection of real-life data about demographics, clinical, therapeutic, laboratory, instrumental and socioeconomic information from BD patients; the Registry is based on the Research Electronic Data Capture (REDCap) tool, which is thought to collect standardised information for clinical real-life research, and has been rea…

Transitional care of young people with juvenile idiopathic arthritis in Italy: results of a Delphi consensus survey

2018

OBJECTIVES: To present the results of a Delphi consensus survey among Italian paediatric and adult rheumatologists on transitional care (TC) of young people (YP) with juvenile idiopathic arthritis (JIA). METHODS: A taskforce of 27 paediatric and adult rheumatologists evaluated the applicability of the 2016 EULAR/PReS recommendations for TC to the Italian rheumatology practice and healthcare system and formulated additional country-specific statements aimed to increase their suitability. After a two-round discussion, applicability of EULAR/PReS recommendations and agreement with newly-proposed statements were voted on a 0-10 scale (where 0 = no applicability/agreement and 10 = total applicab…

Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.

2009

<i>Background:</i> Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene <i>(CYP21)</i> has a high degree of variability. <i>Objective:</i> This study was conducted to evaluate <i>CYP21 </i>gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. <i>Methods:</i> 30 out of 61 women e…

A Patient With Toxoplasmosis as a Cause of Submental Lymphadenopathy.

2019

Submental mass secondary to toxoplasmosis is a rare condition and physicians rarely consider its diagnosis. The presented case reports a 43-year-old woman referred with a constant, painless, edema located in the submental area for 2 weeks. Diagnosis of toxoplasmosis was established by the positive serological finding after an accurate medical history of the infectious disease specialist (the patient had eaten raw meat). The patient underwent antimicrobial therapy with resolution of lymphadenopathy. According to review of literature, the article aims to remind clinicians, maxillofacial surgeons, and otolaryngologists that a neck mass can be related to the infectious cause with involving of l…

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

2010

X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

Serological Screening of Celiac Disease: Choosing the best tests under two years.

2005

Corrigendum to “Conservation value of forest plantations for bird communities in western Kenya” [Forest Ecol. Manag. 255 (2008) 3885–3892]

2009

A re-analysis of the bird data revealed a mistake within the database query. Only bird individuals that were heard were integrated in the results leading to lower total richness and number of individuals. In total 115 species and 13,331 individuals were detected of which 41 were forest specialists (43% of all individuals), 40 forest generalists (41%) and 34 forest visitors (16%). The statistical analyses remain very similar. We recorded significant differences in mean bird species richness, number of individuals and relative species richness among the five forest types (Table 1). Multiple pairwise comparisons showed significantly higher numbers of species in natural forest, mixed indigenous…

Epileptic seizures as a manifestation of cow's milk allergy: a studied relationship and description of our pediatric experience

2014

Adverse reactions after ingestion of cow's milk proteins can occur at any age, from birth and even amongst exclusively breast-fed infants, although not all of these are hypersensitivity reactions. The most common presentations related to cow's milk protein allergy are skin reactions, failure to thrive, anaphylaxis as well as gastrointestinal and respiratory disorders. In addition, several cases of cow's milk protein allergy in the literature have documented neurological involvement, manifesting with convulsive seizures in children. This may be due to CNS spread of a peripheral inflammatory response. Furthermore, there is evidence that pro-inflammatory cytokines are responsible for disruptin…

Consensus statement of the Italian society of pediatric allergy and immunology for the pragmatic management of children and adolescents with allergic…

2020

AbstractThe COVID-19 pandemic has surprised the entire population. The world has had to face an unprecedented pandemic. Only, Spanish flu had similar disastrous consequences. As a result, drastic measures (lockdown) have been adopted worldwide. Healthcare service has been overwhelmed by the extraordinary influx of patients, often requiring high intensity of care. Mortality has been associated with severe comorbidities, including chronic diseases. Patients with frailty were, therefore, the victim of the SARS-COV-2 infection. Allergy and asthma are the most prevalent chronic disorders in children and adolescents, so they need careful attention and, if necessary, an adaptation of their regular…