Search results for "Abnormal"
showing 10 items of 761 documents
Recombinant norovirus GII.g/GII.12 gastroenteritis in children.
2011
Recombinant GII.g/GII.12 norovirus (NoV) strains emerged in 2008 in Australia and subsequently have been associated with gastroenteritis outbreaks worldwide. In the winter season 2009-2010 GII.12 strains caused 16% of the NoV outbreaks in the United States. During 2009-2010 we also identified GII.g/GII.12 strains during surveillance of sporadic cases of gastroenteritis in Italian children. Severity scores were calculated for the GII.g/GII.12 NoV infections using the Vesikari scale and in two out of three paediatric cases they exceeded the median value calculated for concomitant GII.4 infections. Upon sequence analysis, the Italian strains were found to be recombinant viruses and displayed d…
Difficulties in distinguishing between an atlas fracture and a congenital posterior atlas arch defect in postmortem analysis.
2013
We found one atlas from a sample of 148 skeletons (0.67%) that presented different anatomical variations which made it difficult to determine whether the vertebra had an atlas fracture, an unusual Type B posterior atlas arch defect, or a combination of both. We carried out a stereomicroscopy, radiographic, and computerized tomography scan study that revealed that the dry atlas we found presented a very uncommon congenital Type B posterior atlas arch defect, simulating a fracture. In short, the present paper has revealed that differentiating Type B posterior atlas arch defects from fractures in post-mortem dry vertebrae is more difficult than expected. Thus we believe that it can be easier t…
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Investigation of tooth transposition in a non-syndromic Turkish anatolian population : characteristic features and associated dental anomalies
2009
Objective: The aims of this study were to investigate the frequency and characteristics of dental transpositions and to evaluate associated dental anomalies in a large sample of Turkish Anatolian population. Study design: A retrospective study was performed using panoramic radiographs of 6983 patients (4092 females and 2891 males) ranging in age from 12 to 27 subjected to Faculty of Dentistry at the University of Ataturk (Erzurum, Turkey) between 2005 and 2008. For each patient with tooth transposition we recorded the demographic variables (including age, sex), history of trauma, type, classification, and location of tooth transpositions, and associated dental anomalies. The Pearson chi-squ…
Spinocerebellar ataxia: functional analysis of the stomatognathic system
2019
Background Neurodegenerative diseases that affect the cerebellum, especially in elderly individuals, cause impairment of motor coordination and quality of life. The presente study evaluated the electromyographic activity and thickness of the right and left masseter and temporal muscles, and the maximum molar bite force of individuals with spinocerebellar ataxia. Material and Methods Twenty-eight individuals were divided into two groups: those with (n=14) and without (n=14) spinocerebellar ataxia. Data on the masticatory muscles obtained from the electromyographic activity (resting, right and left laterality and protrusion), muscle thickness (maximal voluntary contraction and tensile strengt…
The prevalence of root dilacerations in a Turkish population
2009
Objectives: The aim of this study was to determine the prevalence of root dilaceration in a Turkish dental patient population with respect to sexes and dental localization in relation between sex and this anomaly. Study Design: A retrospective study was performed using periapical radiography of 2,124 patients ranging in age from 15 to 65. All data (age, sex and systemic disease or syndrome) was obtained from the files. These patients were analyzed for root dilaceration. Descriptive characteristics of sexes, jaws, and dental localization were recorded. The Pearson chi-squared test was used. Results: Of 2,251 patients, 214 (9.5%) had root dilaceration. Root dilacerations were determined in 27…
Bleomycin Exerts Ambivalent Antitumor Immune Effect by Triggering Both Immunogenic Cell Death and Proliferation of Regulatory T Cells
2013
International audience; Bleomycin (BLM) is an anticancer drug currently used for the treatment of testis cancer and Hodgkin lymphoma. This drug triggers cancer cell death via its capacity to generate radical oxygen species (ROS). However, the putative contribution of anticancer immune responses to the efficacy of BLM has not been evaluated. We make here the observation that BLM induces immunogenic cell death. In particular, BLM is able to induce ROS-mediated reticulum stress and autophagy, which result in the surface exposure of chaperones, including calreticulin and ERp57, and liberation of HMBG1 and ATP. BLM induces anti-tumor immunity which relies on calreticulin, CD8(+) T cells and inte…
Prenatal Ultrasound Screening: False Positive Soft Markers May Alter Maternal Representations and Mother-Infant Interaction
2012
Background In up to 5% of pregnancies, ultrasound screening detects a “soft marker” (SM) that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. Methodology and Principal Findings Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester…
ROP, the Drosophila Sec1 homolog, interacts with syntaxin and regulates neurotransmitter release in a dosage-dependent manner.
1998
The Sec1 family of proteins is thought to function in both non-neuronal and neuronal secretion, although the precise role of this protein family has not been defined. Here, we study the function of ROP, the Drosophila Sec1 homolog, in neurotransmitter release. Electrophysiological analyses of transgenic lines overexpressing ROP and syntaxin, a presynaptic membrane protein, indicate that ROP interacts with syntaxin in vivo. Characterization of four point mutations in ROP shows that they fall into two phenotypic classes. Two mutations cause a dramatic reduction in both evoked and spontaneous neurotransmitter release. In contrast, the other two mutations reveal an increase in evoked neurotrans…
Impact of Clinical Features, Cytogenetics, Genetic Mutations and Methylation of CDKN2B and DLC-1 Promoters on Treatment Response to Azacitidine
2019
Introduction : Azacitidine (AZA) is a DNA hypomethylating agent used in myeloid neoplasms, however approximately half of patients show treatment failure or relapse. Last years, several studies have showed that genetic mutations may influence on response and survival of the treated patients. Other biomarkers that have traditionally been associated with the response to AZA are the recovery of the platelet count and the presence of abnormalities in the chromosome 7. Finally, the methylation dynamics of genes promoters could be a useful tool to predict the clinical response. Aim: To assess the predictive value on response to AZA of clinical features, cytogenetics, genetic mutations and the meth…