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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
2005
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected indi…
Coincidence of mandibular fractures with isolated posterior maxillary sinus fractures
2017
Background/aim There are no data available to show whether there is a relationship between mandibular fractures and isolated fractures of the posterior and/or lateral walls of the maxillary sinus. The aim of this study was to determine whether there is a coincidence between these fracture patterns. Methods Four hundred large volume cone beam computed tomography scans (CBCT) of patients with a fracture of the mandible between 2008 and 2013 were analyzed retrospectively. Patients with multiple midfacial fractures were excluded. The radiographic findings were correlated with epidemiological and clinical data of the patients such as gender, age, treatment methods, or complications. Results The …
Reduced oxytocin receptor gene expression and binding sites in different brain regions in schizophrenia: A post-mortem study
2016
Schizophrenia is a severe neuropsychiatric disorder with impairments in social cognition. Several brain regions have been implicated in social cognition, including the nucleus caudatus, prefrontal and temporal cortex, and cerebellum. Oxytocin is a critical modulator of social cognition and the formation and maintenance of social relationships and was shown to improve symptoms and social cognition in schizophrenia patients. However, it is unknown whether the oxytocin receptor is altered in the brain. Therefore, we used qRT-PCR and Ornithine Vasotocin Analog ([125I]OVTA)-based receptor autoradiography to investigate oxytocin receptor expression at both the mRNA and protein level in the left p…
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
1998
Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of b…
Immunogenicity and safety of the adjuvanted recombinant zoster vaccine in adults with haematological malignancies: a phase 3, randomised, clinical tr…
2019
BACKGROUND: The adjuvanted recombinant zoster vaccine (Shingrix) can prevent herpes zoster in older adults and autologous haemopoietic stem cell transplant recipients. We evaluated the safety and immunogenicity of this vaccine in adults with haematological malignancies receiving immunosuppressive cancer treatments. METHODS: In this phase 3, randomised, observer-blind, placebo-controlled study, done at 77 centres worldwide, we randomly assigned (1:1) patients with haematological malignancies aged 18 years and older to receive two doses of the adjuvanted recombinant zoster vaccine or placebo 1-2 months apart during or after immunosuppressive cancer treatments, and stratified participants acco…
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutati…
2007
Familial hypercholesterolemia (FH) and familial defective apoB 100 (FDB) are characterized by increased plasma low-density lipoprotein cholesterol (LDLc) levels and risk of coronary heart disease (CHD). FDB is clinically indistinguishable from FH. The aims of this study were to evaluate clinical diagnosis criteria for FDB and to compare the lipoprotein phenotype between carriers of LDL receptor (LDLR) gene mutations that affect the ligand-binding domain and subjects with the R3500Q mutation in apoB gene. We studied 213 subjects (113 probands) with FH and 19 heterozygous FDB subjects. Genetic diagnosis was determined by following a protocol based on Southern blot and polymerase chain reactio…
Cancer incidence in Italian contaminated sites
2014
INTRODUCTION: The incidence of cancer among residents in sites contaminated by pollutants with a possible health impact is not adequately studied. In Italy, SENTIERI Project (Epidemiological study of residents in National Priority Contaminated Sites, NPCSs) was implemented to study major health outcomes for residents in 44 NPCSs. METHODS: The Italian Association of Cancer Registries (AIRTUM) records cancer incidence in 23 NPCSs. For each NPCSs, the incidence of all malignant cancers combined and 35 cancer sites (coded according to ICD-10), was analysed (1996-2005). The observed cases were compared to the expected based on age (5-year period,18 classes), gender, calendar period (1996-2000; 2…
Event-related potentials reflecting the processing of phonological constraint violations
2009
How are violations of phonological constraints processed in word comprehension? The present article reports the results of an event-related potentials (ERP) study on a phonological constraint of German that disallows identical segments within a syllable or word (CC(i)VC(i)). We examined three types of monosyllabic late positive CCVC words: (a) existing words [see text], (b) wellformed novel words [see text] and component (c) illformed novel words [see text] as instances of Obligatory Contour Principle non-word (OCP) violations. Wellformed and illformed novel words evoked an N400 effect processing in comparison to existing words. In addition, illformed words produced an enhanced late posteri…
Long-time expression of DNA repair enzymes MGMT and APE in human peripheral blood mononuclear cells.
2001
The DNA repair enzymes O6-methylguanine-DNA methyltransferase (MGMT) and apurinic/apyrimidinic endonuclease (APE, also known as Ref-1) play an important role in cellular defense against the mutagenic and carcinogenic effects of DNA-damaging agents. Cells with low enzyme activity are more sensitive to induced DNA damage and may confer a higher carcinogenic risk to the individuals in question. To study the level of variability of MGMT and APE expression in human, we analyzed in a long-time study MGMT and APE expression in peripheral blood mononuclear cells (PBMC) from healthy individuals. The data revealed high inter- and intraindividual variability of MGMT but not of APE. For MGMT, the inter…
Prevalence of surgical site infections before and after the implementation of a multimodal infection control programme
2012
Objectives: In order to assess the prevalence of surgical site infections (SSIs) before and after the implementation of a multimodal infection control programme including the realization of a campaign to increase compliance with guidelines for antimicrobial prophylaxis, we designed and conducted the present study involving all 20 of the surgical departments of a large teaching hospital in Catania, Italy. Patients and methods: SSI definitions of the Hospital in Europe Link for Infection Control through Surveillance (HELICS) protocol were used in four 1 day point-prevalence surveys. After the first survey, an infection control programme was implemented involving the active commitment of surge…