Search results for "OSA"
showing 10 items of 9388 documents
PORCN mutations in focal dermal hypoplasia: coping with lethality.
2009
Contains fulltext : 81709.pdf (Publisher’s version ) (Closed access) The X-linked dominant trait focal dermal hypoplasia (FDH, Goltz syndrome) is a developmental defect with focal distribution of affected tissues due to a block of Wnt signal transmission from cells carrying a detrimental PORCN mutation on an active X-chromosome. Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23. Three were microdeletions eliminating PORCN and encompassing neighboring genes such as EBP, the gene associated with Conradi-Hunermann-Happle syndrome (CDPX2). 12/24 patients carried nonsense mutations resulting in loss …
Increased prevalence of autoimmune diseases in first-degree relatives of patients with celiac disease.
2003
The prevalence of autoimmune disorders is increased in patients with celiac disease (CD), and it is unknown whether their first-degree relatives also have a high risk of autoimmune disorders.To assess the prevalence of autoimmune diseases in first-degree relatives of CD patients, the authors looked for autoimmune disorders in 225 first-degree relatives of 66 children with CD (group A) and in 232 first-degree relatives of 68 healthy children (group B). For both groups, serologic screening for CD was performed through antiendomysium (EMA) and tissue transglutaminase autoantibodies (tTGAA). EMA- and tTGAA-positive subjects were offered an intestinal biopsy. The age at onset of autoimmune disea…
Denture-related oral mucosal lesions among farmers in a semi-arid Northeastern region of Brazil
2010
Objectives: The purpose of this study was to evaluate the prevalence of denture-related oral mucosal lesions (DML) in São Francisco sertão microregion, in Sergipe State, Northeastern Brazil. Study Design: Data related to gender, age, type of denture, length of denture use, hygiene care, nocturnal denture wear, symptoms, and presence of DML were obtained. Statistical analysis included the Pearson's chi-square and multivariate logistic regression. Results: The global prevalence of DML was 50%, with a significant association between the DML and female gender, age ? 40 years, and length of use ? 5 years. By using the interaction model of logistic regression it was observed that females over 40 …
Influence of alcohol in mouthwashes containing triclosan and zinc: an experimental gingivitis study
2005
Objectives: An experimental gingivitis model was used to analyse the influence of alcohol in mouthwashes containing 0.15% triclosan and zinc chloride on the formation of supragingival plaque, the development of gingivitis and the appearance of adverse events. Material and Methods: Using a double-blind crossover design, 30 subjects underwent two consecutive experimental phases with two 0.15% triclosan and zinc chloride mouthwashes, differentiated mainly by their excipient (hydroalcoholic or aqueous). In each phase, the subjects discontinued all oral hygiene measures and were treated solely with the randomly assigned experimental mouthwash for 21 days. Each experimental phase was preceded by …
Hypoxic macrophages impair autophagy in epithelial cells through Wnt1: relevance in IBD.
2014
A defective induction of epithelial autophagy may have a role in the pathogenesis of inflammatory bowel diseases. This process is regulated mainly by extracellular factors such as nutrients and growth factors and is highly induced by diverse situations of stress. We hypothesized that epithelial autophagy is regulated by the immune response that in turn is modulated by local hypoxia and inflammatory signals present in the inflamed mucosa. Our results reveal that HIF-1 alpha and Wnt1 were co-localized with CD68 in cells of the mucosa of IBD patients. We have observed increased protein levels of beta-catenin, phosphorylated mTOR, and p62 and decreased expression of LC3II in colonic epithelial …
Prospective study of the 532 nm laser (KTP) versus diode laser 980 nm in the resection of hyperplastic lesions of the oral cavity
2018
Background The aim of this study is to evaluate the resection of hyperplastic lesions on the buccal mucosa comparing the 532nm laser (KTP), versus diode 980nm laser, considering pain, scarring, inflammation and drug consumption that occurred postoperatively with each lasers. Material and Methods A prospective study of consecutive series of 20 patients in two groups that presents hyperplastic lesions on the buccal mucosa. The choice of the KTP laser or diode 980nm laser for the surgery was made randomly. The power used was 1.5W in both groups in a continuous wave mode with a 320 μm optical fiber. Parameters of pain, scarring, inflammation and consumption of drugs were recorded by a Numerical…
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
2012
Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation. Results No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 …
High-Concentration Liquid Prednisolone Formula: Filling a Therapeutic Niche in Severe Acute Attacks of Urticaria and Angioedema.
2015
<b><i>Background/Aims:</i></b> According to current guidelines, the emergency kit for patients with severe urticaria and/or angioedema should include a corticosteroid with a prednisolone-equivalent of 50-100 mg. Since severe dysphagia may occur in anaphylaxis, liquid corticosteroids are advantageous. Presently, only liquid preparations with less than 100 mg prednisolone equivalent are available worldwide. <b><i>Methods:</i></b> We prepared a highly concentrated liquid prednisolone formula for oral administration (1 or 5 mg prednisolone per ml). We observed efficacy and safety of 100 mg or >250 mg liquid oral prednisolone in comparison to in…
Significance of serum Il-9 levels in inflammatory bowel disease
2015
IL-9, which may be an inflammatory or regulatory cytokine, can be experimentally produced in a Th17 or modified Th2 context in the presence of T cell receptor (TCR) stimulation. The primary aim of this study was to measure serum IL-9 levels in patients with inflammatory bowel disease (IBD), and evaluate their relationships with the patients’ clinical characteristics. The secondary aim was to determine the levels of interferon-γ (IFN (interferon)-γ), Th2 cytokines (IL-4, IL-5 and IL-13), and IL-6 in order to clarify the context of detectable peripheral cytokines in which IL-9 is produced. Venous blood samples of 43 IBD patients (20 with Crohn’s disease [CD] and 23 with ulcerative colitis [U…
The effect of amifostine or IMRT to preserve the parotid function after radiotherapy of the head and neck region measured by quantitative salivary gl…
2008
Purpose: In this retrospective study, two approaches to preserve the parotid function after radiotherapy (RT) were compared: application of the radioprotective agent amifostine during RT and parotid sparing intensity-modulated radiotherapy (IMRT). Patients and methods: Patients were qualified for this analysis if (1) both parotid glands received a radiation dose of P50 Gy using conventional radiotherapy techniques (cRT) or if they received a parotid sparing IMRT as alternative, if (2) salivary gland scintigraphies before and after RT were performed, and if (3) a normal parotid function was present before RT. Quantitative salivary gland scintigraphy was used to assess the parotid gland funct…