Search results for "School."
showing 10 items of 4295 documents
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic center. By reviewing the literature and combining our findings with previously published data, we demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore, the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS, occurring in 13.1% of p…
Italian cancer figures, report 2013: Multiple tumours
2013
This collaborative study, based on data collected by the network of Italian association of cancer registries (AIRTUM), provides updated estimates on the incidence risk of multiple primary cancer (MP). The objective is to highlight and quantify the bidirectional associations between different oncological diseases. The quantification of the excess or decreased risk of further cancers in cancer patients, in comparison with the general population, may contribute to understand the aetiology of cancer and to address clinical follow-up.Data herein presented were provided by AIRTUM population-based cancer registries, which cover nowadays 48% of the Italian population. This monograph utilizes the AI…
Modelling the non-linear multiple-lag effects of ambient temperature on mortality in Santiago and Palermo: a constrained segmented distributed lag ap…
2008
Objectives: Exposure to ambient temperature can affect mortality levels for days or weeks following exposure, making modelling such effects in regression analysis of daily time-series data complex. Methods: We propose a new approach involving a multi-lag segmented approximation to account for the non-linear effect of temperature and the use of two different penalised spline bases to model the distributed lag of both heat and cold exposure. Compared with standard splines, the novel penalised framework is more flexible at short lags where change in coefficients is greatest, and selection of the maximum lag appears substantially less important in determining the overall pattern of the effect. …
Localization of Congenital Tegmen Tympani Defects
2007
Objective: This study sets out to demonstrate the normal developmental steps of the tegmen tympani and thus explains the typical localization of congenital tegmental defects. Specimens: For this study, 79 macerated and formalin-fixed human temporal bones from 14th fetal week to adults were observed and prepared. Intervention: Macroscopic and microscopic examination of the prenatal and postnatal changes of the tegmen tympani during its development. Main Outcome Measure: Temporal bones from 14th fetal week to adults underwent descriptive anatomic studies to understand the normal development of the tegmen tympani and to find a possible cause of its congenital defects. Results: The medial part …
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases
2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…
The associations of indoor environment and psychosocial factors on the subjective evaluation of Indoor Air Quality among lower secondary school stude…
2017
Subjective evaluation of Indoor Air Quality (subjective IAQ) reflects both building-related and psychosocial factors, but their associations have rarely been studied other than on the individual level in occupational settings and their interactions have not been assessed. Therefore, we studied whether schools' observed indoor air problems and psychosocial factors are associated with subjective IAQ and their potential interactions. The analysis was performed with a nationwide sample (N = 195 schools/26946 students) using multilevel modeling. Two datasets were merged: (i) survey data from students, including information on schools' psychosocial environment and subjective IAQ, and (ii) data fr…
The "exposome" concept - how environmental risk factors influence cardiovascular health.
2019
There is general consensus that environmental pollution and non-chemical stressors contribute to the incidence and prevalence of chronic noncommunicable disease (e.g. cardiovascular, metabolic and mental). Clinical and epidemiological studies support that air pollution and traffic noise are associated with a higher risk for cardiovascular disease and significantly contribute to overall mortality. In this respect, the “exposome” provides a comprehensive description of lifelong exposure history. A recent publication using an updated global exposure-mortality model found that the global all-cause mortality rate attributable to ambient air pollution by PM2.5 and O3 was 8.79 (95% CI 7.11–10.41) …
Concomitant dental injuries in maxillofacial fractures - a retrospective analysis of 1219 patients
2014
BACKGROUND/AIM: Traumatic dental injuries are frequently combined with maxillofacial fractures, but literature addressing this topic is rare. In a retrospective study, the frequency of dental lesions in inpatients with traumatic facial injuries was analyzed. MATERIAL AND METHODS: All patients referred to the Department of Oral and Maxillofacial Surgery of the University Medical Center of the Johannes Gutenberg-University Mainz for inpatient treatment due to facial fractures between January 2001 and December 2007 were analyzed regarding the type of fracture, its localization, and potential concomitant dental injuries. In addition a systematic review was performed to compare the findings of t…
Relationship Between the Linguistic Environments and Early Bilingual Language Development of Hearing Children in Deaf-parented Families
2013
We explored variation in the linguistic environments of hearing children of Deaf parents and how it was associated with their early bilingual language development. For that purpose we followed up the children's productive vocabulary (measured with the MCDI; MacArthur Communicative Development Inventory) and syntactic complexity (measured with the MLU10; mean length of the 10 longest utterances the child produced during videorecorded play sessions) in both Finnish Sign Language and spoken Finnish between the ages of 12 and 30 months. Additionally, we developed new methodology for describing the linguistic environments of the children (N = 10). Large variation was uncovered in both the amount…
Alternative lengthening of telomeres--an enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas
2010
Telomere length alterations are known to cause genomic instability and influence clinical course in several tumor types, but have been little investigated in neuroblastoma (NB), one of the most common childhood tumors. In the present study, telomere-dependent chromosomal instability and telomere length were determined in six NB cell lines and fifty tumor biopsies. The alternative lengthening of telomeres (ALT) pathway was assayed by scoring ALT-associated promyelocytic leukemia (PML) bodies (APBs). We found a reduced probability of overall survival for tumors with increased telomere length compared to cases with reduced or unchanged telomere length. In non-MYCN amplified tumors, a reduced o…