Search results for "RECESS"
showing 10 items of 379 documents
Phenotype associated with TAF2 biallelic mutations: a clinical description of four individuals and review of the literature
2021
International audience; Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and…
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
2009
Background: Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 ( spatacsin ) and SPG15 ( spastizin ), associated with autosomal recessive HSP, were identified. Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia. Objective: To compare the frequency of SPG11 and SPG15 in patients with early onset complicated HSP and to further characterise the phenotype of SPG11 and SPG15. Results: A sample of 36 index patients with early onset complicated HSP and …
Dental and periodontal lesions in patients with gastro-oesophageal reflux disease.
2003
Dental erosion has been considered an extraesophageal manifestation of gastro-oesophageal reflux disease, but few reports have studied the relationship between this disease and other periodontal or dental lesions. The aim of this study was to investigate the prevalence of dental and periodontal lesions in patients with gastro-oesophageal reflux disease.A total of 253 subjects were prospectively studied between April 1998 and May 2000. Two study groups were established: 181 patients with gastro-oesophageal reflux disease and 72 healthy volunteers. Clinical assessment, including body mass index and consumption of tobacco and alcohol, was performed in all subjects, as well as a dental and peri…
Which group of smokers is more vulnerable to the economic crisis?
2016
Objectives: Studies investigating whether smoking increases or decreases during economic downturn provided contrasting results. For the first time, we used direct questions to analyse changes in smoking behaviour due to the 2008 financial crisis, comparing socio-economic characteristics of smokers who changed with those who kept their smoking intensity. Study Design: Cross-sectional survey. Methods: We used data from three annual surveys conducted in Italy in 2012-2014 on representative samples of te Italian general population aged >_15 years. Results: A total of 1919 current smokers were asked specific questions on the influence of the economic crisis that started in 2008 on their smoking …
Babies of the War: Effect of War Exposure Early in Life on Mortality Throughout Life
2015
There is increasing evidence that circumstances very early in our lives, and particularly during pregnancy, can affect our health for the remainder of life. Studies that have looked at this relationship have often used extreme situations, such as famines that occurred during wartime. Here we investigate whether less extreme situations during World War II also affected later-life mortality for cohorts born in Belgium, France, The Netherlands, and Norway. We argue that these occupied countries experienced a considerable deterioration in daily life situations and show that this resulted in strongly increased mortality rates and lower probabilities of survival until age 55 among civilian popula…
Herpes Simplex I virus impairs regenerative outcomes of periodontal regenerative therapy in intrabony defects: a pilot study.
2011
Aim To evaluate the impact of herpesvirus type-1 and -2 on the clinical outcomes of periodontal regenerative procedures in isolated deep intrabony pockets, in an experimental population with no detectable periodontal pathogens. Materials and Methods Seventeen periodontal intraosseous defects in 17 moderate-to-advanced periodontitis patients were treated with regenerative therapy and amelogenins. Microbiological evaluation was performed at baseline (after the completion of initial therapy) and at 1 year to exclude the presence of periodontal pathogens. Herpesviruses-1 and -2 DNA were quantified in the pocket tissues associated to the intrabony defect using molecular assays. Clinical attachme…
Gingival recession and associated factors in a homogeneous Mexican adult male population : a cross-sectional study
2011
Background: Diverse variables are implicated in the pathogenesis of gingival recession; more detailed knowledge about the relationship between the clinical presentation of gingival recession and assorted risk indicators may lead to improved patient monitoring, early intervention, and subsequent prevention. The objective was to evaluate clinically gingival recession in a homogeneous Mexican adult male population and to determine the strength of association with related factors. Method: A cross-sectional study was carried out in a largely homogeneous group in terms of ethnic background, socioeconomic status, gender, occupation, and medical/dental insurance, in Campeche, Mexico. Periodontal ex…
Is recession bad for your mental health? The answer could be complex: evidence from the 2008 crisis in Spain
2018
Abstract Background We explored the impact of 2008 recession on the prevalence of mental health problems in Spain. Methods Repeated cross-sectional survey design. Datasets from 2006 and 2011 were used, and temporal change was examined. The study was conducted on the economically active population (16–64 years old). The two surveys included 29,478 and 21,007 people, obtaining a 96 and 89.6% response rate, respectively. Multiple logistic regression models were adjusted to identify poor mental health risk factors. A standardisation analysis was performed to estimate the prevalence of people at risk of poor mental health (GHQ+). Results The prevalence of GHQ+ following the crisis increased in m…
Fixed dental prostheses with vertical tooth preparations without finish lines: A report of two patients
2016
Tooth abutments can be prepared to receive fixed dental prostheses with different types of finish lines. The literature reports different complications arising from tooth preparation techniques, including gingival recession. Vertical preparation without a finish line is a technique whereby the abutments are prepared by introducing a diamond rotary instrument into the sulcus to eliminate the cementoenamel junction and to create a new prosthetic cementoenamel junction determined by the prosthetic margin. This article describes 2 patients whose dental abutments were prepared to receive ceramic restorations using vertical preparation without a finish line.
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
2008
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.