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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
2006
Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical–radiographic review system, whereby all cases were evaluated by a panel of skeletal dysplasia experts (European Skeletal Dysplasia Network). Only those patients in whom the diagnosis of MED was confirmed by the panel were screened for mutations. Under this regimen the mutation detection rate increased to 81%. When clinical–radiological diagnostic cr…
The Calgary Depression Rating Scale for Schizophrenia: development and interrater reliability of a German version (CDSS-G)
1999
A German version of the Calgary Depression Rating Scale for Schizophrenia (CDSS-G) approved by the author of the original scale is presented comprising a semi-structured interview for 9 items to sensitively and specifically assess depression in schizophrenia and related disorders. The process of translation is outlined and the finally derived CDSS-G was investigated with respect to interrater reliability in three studies. To keep comparability with the CDSS source version a standard procedure was used. Two trained raters jointly assessed ten schizophrenic patients (study I). In a second study, videotapes with the CDSS-G were presented to clinically inexperienced raters (study II, N = 14/15)…
Comparison of olfactory function in patients with seasonal and perennial allergic rhinitis
1998
Hyposmia is a common symptom in allergic rhinitis. However, little is known about differences in the olfactory function of patients with seasonal or perennial allergy. A prospective controlled study was performed on 28 patients with allergic rhinitis to grass pollen and on 47 patients with allergic rhinitis to mites. Sixty-six healthy volunteers served as a control. Olfactory function was evaluated by a modified Connecticut Chemosensory Clinical Research Center testing procedure for threshold, identification, and discrimination. The grass pollen-allergic patients were tested preseasonally and after 3 weeks of intraseasonal grass pollen exposure; the mite-allergic patients and the volunteers…
Dental trait anxiety and pain sensitivity as predictors of expected and experienced pain in stressful dental procedures.
2004
A prevailing hypothesis suggests that exaggerated pain expectations in dentally anxious and pain-sensitive patients might usually be disconfirmed by a lower level of pain experienced during treatment. The present study was conducted to investigate whether this contention also holds during stressful dental procedures. Patients reporting high and low levels of dental fear and of pain sensitivity were compared in their expected and experienced pain and in the concordance between the two measures. Participants were 97 patients undergoing extraction and root canal treatment. The measuring instruments used were the Dental Anxiety Scale (DAS), the Pain Sensitivity Index (PSI), affective and sensor…
Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): reference data for the trunk and application in patients with…
2013
Age- and gender-matched reference values are essential for the clinical use of quantitative sensory testing (QST). To extend the standard test sites for QST-according to the German Research Network on Neuropathic Pain-to the trunk, we collected QST profiles on the back in 162 healthy subjects. Sensory profiles for standard test sites were within normal interlaboratory differences. QST revealed lower sensitivity on the upper back than the hand, and higher sensitivity on the lower back than the foot, but no systematic differences between these trunk sites. Age effects were significant for most parameters. Females exhibited lower pressure pain thresholds (PPT) than males, which was the only si…
Effects of transcranial direct current stimulation of the primary sensory cortex on somatosensory perception.
2011
Background: Transcranial direct current stimulation (tDCS) is able to modify cortical excitability and activity in humans. Objective: The aim of the present study was to analyze the effects of tDCS of the primary sensory cortex (SI) on thermal and mechanical perception, assessed by quantitative sensory testing (QST). Methods: The comprehensive QST protocol encompassing thermal and mechanical detection and pain thresholds as devised by the German Research Network on Neuropathic Pain (DFNS) was applied to skin areas innervated by the radial and median nerve of 12 healthy subjects, who were examined before and after each tDCS stimulation type. Anodal, cathodal, and sham tDCS was applied at a 1…
Test-retest reliability of a new questionnaire on the diet and eating behavior of one year old children
2015
Background As part of a sub-study in the ongoing Norwegian RCT ‘Fit for Delivery’, a new questionnaire, using a combination of food frequency, scale, and categorical questions to gather data on the diets and eating patterns of one year olds, was developed and tested for reliability by test-retest. Results Of 102 parents recruited to the study, 94 completed both test and retest. Correlation coefficients (Spearman’s r, and/or Cohen’s kappa, where applicable) were high for all categories of question, with a mean value of 0.72 for Spearman’s r for food frequency variables, and a mean value of 0.75 for Cohen’s kappa for non-numeric variables such as breast feeding status, showing very high test-…
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…
Image cytometric DNA analysis of mucosal biopsies in patients with primary achalasia.
2006
(P < 0.0001), and 9c- (P = 0.0001) exceeding rate with progredient DNA alterations in the respective order. CONCLUSION: The finding that DNA aneuploidy was identifi ed by image cytometry in esophageal specimens of patients with achalasia, which may be due to specifi c chromosomal alterations presenting as precancerous lesions in 27% of patients, leads us to conclude that image cytometry represents a valuable screening tool. Abstract AIM: To determine DNA aneuploidy in mucosal biopsies of achalasia patients for subsequent rapid diagnosis. METHODS: Biopsies from the middle third of the esophagus were obtained in 15 patients with achalasia. Immunohistochemical staining was carried out with mon…
Local reactions to tick bites
2008
A retrospective histological and immunohistochemical study has been carried out in 25 cases of tick bites recorded in our Departments. The samples that included an attached tick showed a cement cone anchoring the mouthparts to the skin and a blood-soaked, spongiform appearance of the superficial dermis, with a mild neutrophilic and eosinophilic infiltration. The vessels displayed a loose multilayered endothelial proliferation, with plump endothelia, permeated with erythrocytes. A few of them were severed, allowing copious blood extravasation. The established lesions included the following: erythema chronicum migrans-like cases, foreign body granulomas-sometimes containing remnants of the mo…