Search results for "ABNORMALITIES"
showing 10 items of 638 documents
Multiplex Ligation-dependent Probe Amplification (MLPA)
2011
The Multiplex Ligation-dependent Probe Amplification (MLPA) is a PCR-based method. The procedure relies on sequence-specific probe hybridization of genomic DNA, followed by multiplex-PCR amplification of the hybridized probe and a semiquantitative analysis of the resulting PCR products. MLPA allows the analysis of around 40 loci in the same reaction, and is a sensitive and relatively fast technique. Only a small amount of DNA is required and results are available within 2 days.The critical factors when performing MLPA analyses from formalin-fixed paraffin-embedded (FFPE) tissues are DNA integrity and purity; for this reason, a suitable DNA extraction method must be chosen.The MLPA protocol …
Duchenne Muscular Dystrophy (DMD): Should it be Considered a Systemic Disease?
2016
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease characterized by progressive skeletal muscle loss and development of respiratory failure due to involvement of respiratory muscles. Similar to human DMD, the mdx mouse model lacks dystrophin but is characterized by relatively mild muscle injury, allowing testing the effects of mild endurance exercise training on dystrophic skeletal muscle. We were interested to study the effects of exercise training on airway cells in trained mdx mice by applying the same protocol previously tested in Swiss mice. We found that mdx mice showed little airway inflammation associated with training, but developed increasing apoptosis of airway cells…
Granuloma anulare disseminatum als seltene Nebenwirkung von Allopurinol
1995
During long-term therapy of hyperuricaemia with allopurinol (300 mg/d) two patients developed generalized granuloma annulare. The diagnoses were confirmed by histology; concomitant diseases, especially diabetes mellitus, were not detectable. Following discontinuation of allopurinol therapy, cutaneous granulomas healed without relapse. Hyperuricaemia could be controlled by low-purine diet and medication avoiding allopurinol. The clinical history of our two patients suggested a causal connection between allopurinol therapy and generalized granuloma annulare. For this reason we rate the development of this disease in both cases as a rare but significant side effect of allopurinol. This should …
Novel Digital Technique to Quantify the Area and Volume of Cement Remaining and Enamel Removed after Fixed Multibracket Appliance Therapy Debonding: …
2020
The aim of this study was to construct a novel, repeatable, reproducible, and accurate measurement protocol for the area and volume of the remaining cement after removal of fixed multibracket appliances, the area and volume of remaining cement after cement removal, the area and volume of enamel removed after cement removal, and the volume of cement used to adhere fixed multibracket appliances. A total of 30 brackets were cemented and removed with over 30 extracted teeth embedded into three experimental models of epoxy resin. The models were scanned before and after bracket placement, bracket debonding, and polishing the remaining cement. The brackets were submitted to micro-computed tomogra…
Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.
2012
Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied a…
Scientific evidence on the usefulness of intraarticular hyaluronic acid injection in the management of temporomandibular dysfunction
2010
Abstract Hyaluronic acid (HA) is found in high concentrations in cartilage and synovial fluid, and is an important component of the extracellular matrixes ? exerting joint lubrication and buffering actions thanks to its viscoelastic properties. The present study examines the scientific evidence found in the current literature on the usefulness of the intraarticular injection of HA in patients with temporomandibular dysfunction. A literature search was made up until May 2008 in the following databases: PubMed / MEDLINE. Of the articles found in the literature, the present review included 18 relevant studies on the application of HA in the temporomandibular joint (TMJ). The quality, level of …
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
Dyskeratosis congenita: Report of a case with literature review
2007
Leukoplakic lesion is not uncommon in clinical practice but its occurrence as a component of a syndrome is rare. Dyskeratosis congenita is a rare genodermatosis, which is characterized by triad of skin pigmentation, nail dystrophy and leukoplakic lesion in the oral cavity. It is important for dentists to now about Dyskeratosis Congenita because these leukoplakic lesions can spontaneously undergo malignant transformation. Majority of cases have been reported in dermatology or pediatrics literature whereas only few reports have appeared in dental literature. The purpose of reporting this case with review of recent literature is to create better awareness among dentists about the multisystem m…
congenital true cystic mass of the pancreas in a Young woman: which treatment?
2013
Aim. We report a case of congenital true pancreatic cyst with high level of enzymatic activity, rarely seen in young and children which, to the best of our knowledge, rarely has previously been reported. A young girl was admitted to our clinic with a history of abdominal swelling and pain during exercise for many months. A mobile, smooth, non-tender mass was palpated on the left side of the abdomen during physical examination. Ultrasonography and computed tomography imaging revealed a not subdivide cystic mass sized 11.51x8.2 cm. Methods. Surgical treatment was considered, but given the young age of the patient, we declined for fear of complications. Therefore, US-guided percutaneous draina…
Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis
2022
Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…