Search results for "NGS"

The impact of pictorial health warnings on tobacco products in smokers behaviours and knowledge: The first quasi-experimental field trial after the i…

2019

Background. The aim of the study was to evaluate in the Italian smokers, the effects of implementation of the law about Pictorial Health Warnings (PHWs) on tobacco products.Methods. A quasi-experimental longitudinal design was conducted between 2016 and 2017. The data were collected before (pre-PHW/Wave 1) and after (post-PHW/Wave 2) the implementation of the law. The adopted questionnaire included impact of advertisement (Label Impact Index, LII), quitting behavior and knowledge of tobacco related diseases.Results. 455 respondents completed both the Waves. 7.7% of smokers declared to have stopped smoking in Wave 2 and 29% of these declared the PHWs as one of the reasons to quit. The knowle…

A new approach based on Machine Learning for predicting corneal curvature (K1) and astigmatism in patients with keratoconus after intracorneal ring i…

2014

Keratoconus (KC) is the most common type of corneal ectasia. A corneal transplantation was the treatment of choice until the last decade. However, intra-corneal ring implantation has become more and more common, and it is commonly used to treat KC thus avoiding a corneal transplantation. This work proposes a new approach based on Machine Learning to predict the vision gain of KC patients after ring implantation. That vision gain is assessed by means of the corneal curvature and the astigmatism. Different models were proposed; the best results were achieved by an artificial neural network based on the Multilayer Perceptron. The error provided by the best model was 0.97D of corneal curvature …

Effects of a Psychosocial Intervention on the Executive Functioning in Children With ADHD

2011

The purpose of this study was to analyze the effects of an intensive psychosocial intervention on the executive functioning (EF) in children with ADHD. The treatment was carried out in a coordinated manner over a period of 10 weeks with 27 children with ADHD aged 7 to 10, their parents, and their teachers. A battery of neuropsychological tasks was applied to evaluate attention, interference control, verbal and visuospatial working memory, planning ability, and flexibility. The comparative analysis of the treated group of ADHD children and an untreated ADHD group showed significant differences that were especially important in visuospatial memory and planning in favor of the treated childre…

Electrophysiological and MRI findings in 2 patients with Listeria rhombencephalitis.

1997

Local reactions to tick bites

2008

A retrospective histological and immunohistochemical study has been carried out in 25 cases of tick bites recorded in our Departments. The samples that included an attached tick showed a cement cone anchoring the mouthparts to the skin and a blood-soaked, spongiform appearance of the superficial dermis, with a mild neutrophilic and eosinophilic infiltration. The vessels displayed a loose multilayered endothelial proliferation, with plump endothelia, permeated with erythrocytes. A few of them were severed, allowing copious blood extravasation. The established lesions included the following: erythema chronicum migrans-like cases, foreign body granulomas-sometimes containing remnants of the mo…

Associations between infant and maternal characteristics measured at child age 5 months and maternal feeding styles and practices up to child age two…

2022

Facilitating positive feeding practices from infancy may be an important strategy to prevent childhood overweight and obesity. Since the feeding situation early in life constitutes a bidirectional relationship, it is important to understand the impact of both maternal and infant characteristics on maternal feeding practices to intervene in a customized and tailored way. Few studies have concurrently examined associations between maternal and infant characteristics in relation to early maternal feeding practices. The aim of the present study was to explore potential associations between infant and maternal characteristics measured at child age five months, and maternal feeding styles and pra…

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

2019

Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…

Minimally-invasive temporary gastric stimulation: A pilot study to predict the outcome of electronic gastric stimulation with the Enterra™ system.

2018

Abstract Introduction Gastroparesis (GP) is defined as delayed gastric emptying (GE) without any obstruction of the pylorus. It can be divided into idiopathic, diabetic, post surgical and rare causes. Electronic gastric stimulation (EGS) – Enterra Medtronic™ – is a part of GP therapy. Although its positive impact has been reported in open label trials, randomized controlled trials failed in demonstrating a positive outcome. The aim of this pilot study was to establish a reliable prediction for permanent gastric stimulation. Patients and procedure 6 female patients underwent laparoscopic implantation of 2 temporary electrodes. The Enterra™ system was connected and taped to the skin. Baseline…

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene

2020

Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…

Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

2003

Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…