Search results for "EFE"
showing 10 items of 5785 documents
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
2003
Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…
Low SPINK5 expression in chronic rhinosinusitis
2012
Objectives/Hypothesis: Chronic rhinosinusitis (CRS) is a multifactorial disease that probably arises as a result of genetic diversity and environmental factors. SPINK5 is a serine protease inhibitor, which is supposed to be an important regulator of epithelial barrier maintenance. The role of SPINK5 polymorphisms and expression in CRS, especially in individuals with aspirin intolerance, is unclear. Study Design: SPINK5 single-nucleotide polymorphisms (SNPs) and SPINK5 expression levels were correlated with CRS without (CRSsNP) and with nasal polyps (CRSwNP), aspirin intolerance, asthma, and allergies. Methods: One hundred four nasal tissue samples, 15 from patients with CRSsNP, 59 from pati…
Hyperechogenicity of the substantia nigra in healthy controls is related to MRI changes and to neuronal loss as determined by F-Dopa PET
2009
Abstract Transcranial ultrasound (TCS) has been shown to reveal hyperechogenicity of the substantia nigra (SN) in Parkinsonian patients and in about 10% of healthy controls. It is hypothesized that SN hyperechogenicity in healthy subjects is a vulnerability marker for idiopathic Parkinson's disease (IPD). Although there is strong evidence that the echomarker results from increased local iron content, the exact pathophysiological mechanisms remain incompletely understood. Thus, prognostic impact can only be estimated. We examined 14 subjects with SN hyperechogenicity (SN+) (7 IPD patients and 7 controls) and 7 healthy controls without the echomarker (SN−) by a magnetic resonance imaging meth…
Microvascular abnormalities in patients with rheumatoid arthritis.
2006
Summary Microvascular involvement represents one of the first apparent steps in many autoimmune diseases such as rheumatoid arthritis (RA). Early in the disease, peripheral microangiopathy may be easily recognized and studied by videocapillaroscopy. The aim of this study has been to observe the differences in labial microcirculation between healthy patients and patients suffering from RA. A total of 30 healthy patients and 30 patients suffering from RA were examined. The patients with conditions known to compromise microcirculation, such as diabetes, hypertension, or some pharmacological treatments were not included in the study. All the patients were non-smokers. Labial capillaroscopy was …
Evaluation of labial microvessels in Sjogren syndrome: A videocapillaroscopic study
2008
Summary Sjogren's syndrome (SS) is a chronic autoimmune rheumatic disease characterized by a progressive lymphocytic infiltration of exocrine glands, especially salivary and lachrymal ones, leading to xerostomia, parotid gland enlargement, and xerophtalmia. SS may occur alone (primary) or in association with almost any of the autoimmune rheumatic diseases (secondary), the most frequent being rheumatoid arthritis. The aim of this study is to describe the capillaroscopic pattern of the labial mucosa in patients with SS. Methods A total of 20 patients affected by SS and 20 healthy controls were examined. The patients with conditions that compromise microcirculation, such as diabetes, hypertens…
Modifications of interdental papilla microcirculation: A possible cause of periodontal disease in Hashimoto's thyroiditis?
2007
Summary Background Hypothyroidism is defined by a decrease in thyroid hormone production and thyroid gland function. The aim of the present research has been to evaluate the morphologic interdental papilla microcirculation of patients suffering from Hashimoto thyroiditis (HT) and to evaluate a possible correlation with the associated periodontal disease. Methods Fifteen healthy subjects and 15 patients suffering from HT were examined. The patients who showed conditions known to compromise microcirculation, such as diabetes, hypertension and pharmacological treatments, were not included in the group of healthy patients. All patients were non-smokers. Gingival capillaroscopy was used to inves…
Microvascular Characteristics of the Human Interdental Papilla
2007
The aim of this study was to observe the microcirculation characteristics of the human interdental papilla in healthy patients in vivo. Twenty healthy patients were examined. Capillaroscopy was used to investigate the characteristics of microcirculation of the human periodontal mucosa. Visibility, course, tortuosity, as well as the average caliber of the capillary loops and the number of visible capillary loops per square millimeter were evaluated for each patient. The investigation of gingival mucosa revealed capillary loops with a course both parallel and perpendicular to the surface. Our study has pointed out that capillaroscopy is a reliable method to study periodontal microcirculation …
Microvascular characteristics of the human filiform papillae: a videocapillaroscopic study
2006
The aim of this study was to observe the microcirculation characteristics of the human filiform papillae in healthy patients in vivo. Twenty healthy patients were examined using lingual capillaroscopy to investigate the characteristics of microcirculation of the human filiform papillae. Visibility, course, tortuosity, as well as the possible presence of microhemorrhages, the average caliber of the capillary loops and the number of visible capillary loops per square millimeter were evaluated for each patient. The investigation was simple, non-invasive and repeatable for each patient. Microcirculation architecture was characterized by a network of capillaries in polygonal mesh with parallel o…
Kappa free light chains in cerebrospinal fluid as markers of intrathecal immunoglobulin synthesis.
2004
Abstract Background: Intrathecal immunoglobulin synthesis is observed in several inflammatory disorders of the central nervous system, but its detection by current laboratory tests is either tedious or relatively insensitive. We assessed the diagnostic accuracy of an assay for κ free light chains (κFLC) in cerebrospinal fluid (CSF) and serum, and compared it with traditional tests for intrathecal immunoglobulin synthesis. Methods: κFLCs were measured by nephelometry in CSF/serum pairs from 112 patients. Samples were excluded if blood contamination of CSF as a result of traumatic lumbar puncture (n = 12) or monoclonal bands in both CSF and serum (n = 5) were present. The remaining sample pai…
Clinicopathologic features of nasopalatine duct cysts: A retrospective study in two Brazilian oral and maxillofacial pathology referral centers
2021
Background Nasopalatine duct cyst (NDC) is the most common non-odontogenic cyst in the oral cavity. Clinically it is not difficult to suspect these lesions based on clinical and radiographic appearance. However, the histopathological diagnosis may be difficult due to the broad morphological diversity of these lesions. The objective was to analyze the clinicopathological features of NDCs diagnosed in two oral and maxillofacial pathology services in the Brazilian northeast. Material and Methods A retrospective clinicopathologic study was performed. A total of 18,121 clinical records of oral lesions from two oral and maxillofacial pathology services in Brazil were analyzed (2000-2020). All NDC…