Search results for "Sab"

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…

The Impact of the COVID-19 Emergency on the Quality of Life of the General Population

2022

COVID-19 is a pandemic that has forced many states to declare restrictive measures in order to prevent its wider spread. These measures are necessary to protect the health of adults, children, and people with disabilities. Long quarantine periods could cause an increase in anxiety crises, fear of contagion, and post-traumatic stress disorder (frustration, boredom, isolation, fear, insomnia, difficulty concentrating). Post-traumatic stress disorder (PTSD) is a condition that can develop in subjects who have been or have witnessed a traumatic, catastrophic, or violent event, or who have become aware of a traumatic experience that happened to a loved one. In fact, from current cases, it emerge…

Homework Stress and Learning Disability: The Role of Parental Shame, Guilt, and Need Frustration

2022

Using a cross-sectional design, this study examined the relationships between parental guilt, shame, need frustration, and homework stress in students with learning disabilities (LD) and typically developing students (TD) and their parents. One hundred and eight parent-child dyads (54 LD, 54 TD) completed questionnaires to assess homework stress, parental need frustration, guilt, and shame. Parents of students with LD reported more stress, need frustration, shame, and guilt than parents of TD students. For the LD group, shame mediated the association between parental need frustration and parental and child stress whereas guilt mediated the association between parental need frustration and p…

Nessuno resta indietro: La Bellezza del Service Learning

2021

La chiusura delle scuole che ha provocato un incremento significativo della povertà educativa ha sollecitato l’opportunità di pro-gettare interventi integrati di service learning per favorire il recupero e il potenziamento dei minori in difficoltà. 869 studenti del Corso di Laurea Magistrale in Scienze della Formazione Primaria dell’Università degli Studi di Palermo, sono stati coinvolti nella progettazione e nella realizzazione di percorsi didattici mirati, rivolti agli alunni “fragili” di 33 scuole palermitane. Complessiva-mente sono state erogate 60.000 ore in DAD di attività di recupero e di potenziamento dell’apprendimento di alunni della scuola primaria di Palermo. Le attività didatti…

OCTA un KASKO apdrošināšana

2018

Bakalaura darbā tiek analizēta sauszemes transportlīdzekļu apdrošināšana Latvijā . Šī tēma ir uzskatāma par aktuālu, jo sabiedrība ir par obligāto sauszemes transportlīdzekļu īpašnieku civiltiesiskās atbildības un jebkurš izmanto šo obligāto apdrošināšanu, lai pasargātu savu auto no avārijas esošo bojājumu remontu izmaksu segšanām. Bakalaura darba mērķis ir, ņemot vērā iegūto informāciju literatūras avotos un statistikas datos, izstrādāt priekšlikumus, kā arī salīdzināt reālus OCTA un KASKO apdrošināšanas piedāvājumus dažādās apdrošināšanas sabiedrībās, un veikt vairāku auto OCTA vai KASKO polises aprēķinus. Darba saturs izklāstīts 57 lapaspusēs, kas sastāv no 3 nodaļām ar apakšnodaļām, dar…

Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

2015

Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. Here we present a global analysis of a new 415-kb polymorphic inversion that is among the longest ones found in humans and is the first with clear position effects. This inversion is located in chromosome 19 and has been generated by non-homologous end joining between blocks of transposable elements with low identity. PCR genotyping in 541 individuals from eight different human populatio…

A Multicenter Large Retrospective Database on the Personalization of Stereotactic Ablative Radiotherapy for Lung Metastases From Colon-Rectal Cancer:…

2021

PURPOSE/OBJECTIVE(S): stereotactic ablative radiotherapy (SABR) has been shown to increase survival rates in oligometastatic disease (OMD), but local control of colorectal metastases still remains poor. We aimed to identify potential predictive factors of SBRT response through a multicenter large retrospective database and to investigate how lung SBRT can impact on the progression to the polymetastatic disease (PMD). MATERIALS/METHODS: the study involved 22 centers, and was approved by the Ethical Committee (Prot. Negrar 2019-ZT). 1023 lung metastases treated with SBRT in 622 patients were reported. The median BED was 105 Gy10. Lesion diameter GTV, PTV volume, dose, fractionations, and site…

Impact of socio-economic position on cancer stage at presentation: Findings from a large hospital-based study in Germany

2016

We explored the relationship between socio-economic characteristics and cancer stage at presentation. Patients admitted to a university hospital for diagnosis and treatment of cancer provided data on their education, vocational training, income, employment, job, health insurance and postcode. Tumor stage was classified according to the Union International Contre le Cancer (UICC). To analyze disparities in the likelihood of late-stage (UICC III/IV vs. I/II) diagnoses, logistic regression models adjusting for age and gender were used. Out of 1,012 patients, 572 (59%) had late-stage cancer. Separately tested, increased odds of advanced disease were associated with post-compulsory education com…

2020

The disease and treatment of patients with head and neck cancer can lead to multiple late and long-term sequelae. Especially pain, psychosocial problems, and voice issues can have a high impact on patients’ health-related quality of life. The aim was to show the feasibility of implementing an electronic Patient-Reported Outcome Measure (PROM) in patients with head and neck cancer (HNC). Driven by our department’s intention to assess Patient-Reported Outcomes (PRO) based on the International Classification of Functioning during tumor aftercare, the program “OncoFunction” has been implemented and continuously refined in everyday practice. The new version of “OncoFunction” was evaluated by 20 …

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

2013

The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…