Search results for " ICH"
showing 10 items of 32 documents
The influence of invertebrates on soil quality in Tutova Hills
2014
The influence of some invertebrates Hymenoptera (Ichneumonidae) on soil quality in Tutova Hills.
Visualization of Keratin with Diffuse Reflectance and Autofluorescence Imaging and Nonlinear Optical Microscopy in a Rare Keratinopathic Ichthyosis.
2021
Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different optical imaging methods. We used a newly developed light emitting diode (LED) based device to analyze autofluorescence signal at 405 nm excitation and diffuse reflectance at 526 nm in vivo. Mean autofluorescence intensity of the hyperkeratotic palmar skin was markedly higher in comparison to the healthy control (162.35 vs. 51.14). To further assess the skin status, we examined samples from affected skin areas ex vivo by nonlinear optical micr…
Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches
2018
BACKGROUND: This multicentric survey investigates the prevalence and characteristics of Airplane Headache in children affected by primary headaches. METHODS: Patients with symptoms of Airplane Headache were recruited from nine Italian Pediatric Headache Centres. Each patient was handed a structured questionnaire which met the ICHD-III criteria. RESULTS: Among 320 children suffering from primary headaches who had flights during their lifetime, 15 (4.7%) had Airplane Headache, with mean age of 12.4 years. Most of the patients were females (80%). The headache was predominantly bilateral (80%) and localized to the frontal area (60%); it was mainly pulsating, and lasted less than 30 min in all c…
Relationship between adherence to the Mediterranean Diet, intracerebral hemorrhage, and its location
2018
INTRODUCTION: Although some authors evaluated the relationship between adherence to the Mediterranean Diet (MeDi) and both ischemic and hemorrhagic stroke, hemorrhagic stroke alone is not yet examined. AIMS: We conducted a retrospective study to evaluate the relationship between adherence to MeDi and intracerebral hemorrhage (ICH) and different locations of ICH (ganglionic/internal capsule, brainstem/cerebellum, or lobar). METHODS: We analyzed charts and collected data of all consecutive patients with ICH admitted to our Internal Medicine Ward from 2005 to 2014. A scale indicating the degree of adherence to the traditional MeDi Score was constructed. RESULTS: When compared with 100 subjects…
Le metamorfosi del corale "Vom Himmel hoch da komm ich her" fra Lutero, Bach e Stravinsky
2020
Il corale matalizio "Vom Himmel hoch da komm ich her" (Dall'alto dei cieli io giungo) è stato realizzato da Martin Lutero sulla base della melodia popolare "Ich komm aus fremden Landen her" e fu pubblicato per la prima volta a Wittenberg nel 1535. Assai diffuso in tutta l'area culturale tedesca, questo brano è stato ripreso, tra gli altri, anche da J.S. Bach, sia nel "Weinachts-Oratorium" BWV 248 che nelle "Canonische Veraenderungen" per organo BWV 796 e 796a. Il saggio ricostruisce il contesto in cui vide la luce la versione originale del canto natalizio e si sofferma sull'interesse di Bach per la numerologia e sulle "citazioni nascoste" in molte sue opere, incluse le "Veraenderungen" sul …
Unveiling the Relationship Between Sea Surface Hydrographic Patterns and Tuna Larval Distribution in the Central Mediterranean Sea
2021
Thunnus thynnus (Atlantic bluefin tuna, ABT) and other tuna species reproduce in the Mediterranean Sea during the summer period. Despite the Central Mediterranean Sea, the Strait of Sicily in particular, being a key spawning site for many tuna species, little is known on the effects of oceanographic variability on their larval distribution in this area. The abundance and presence-absence of larval specimens for three tuna species (ABT, bullet tuna and albacore) were modeled in order to examine their relationships with environmental factors, by analysing historical in situ information collected during seven annual surveys (2010–2016). The results revealed that most tuna larvae for the three …
Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
2016
Several nuclear genes have been found to be linked to ichthyosis, and Next Generation Sequencing approach on panels of targeted genes has turned out to be particularly useful in analyzing diseases characterized by significant genetic and phenotypic heterogeneity. We developed a panel of 26 genes to be screened with the Ion Personal Genome Machine (PGM) for causative mutations relating to ichthyosis. Sequencing runs were obtained from a patient with ichthyosis using the Ion Torrent PGM and then processed with Ion Torrent Suite, Variant Caller, Coverage Analysis and wANNOVER tools. No causative mutations were found using Variant Caller and wANNOVER softwares, whereas the “Coverage Analysis” t…
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
2022
Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
SUNCT/SUNA in Pediatric Age: A Review of Pathophysiology and Therapeutic Options
2021
The International Classification of Headache Disorders, 3rd edition (ICHD3) defines Short-lasting Unilateral Neuralgiform Headache Attacks (SUNHA) as attacks of moderate or severe, strictly unilateral head pain lasting from seconds to minutes, occurring at least once a day and usually associated with prominent lacrimation and redness of the ipsilateral eye. Two subtypes of SUNHA are identified: Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing (SUNCT) and Short-lasting Unilateral Neuralgiform headache attacks with cranial Autonomic symptoms (SUNA). These pathologies are infrequent in children and difficult to diagnose. The authors reviewed the ex…