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991.
G B?urle W Niedermeier O P Hornstein M Hofmann 《Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete》1979,30(8):427-431
Parodontoplethysmography was repeatedly performed in seven patients with systemic sclerosis over a period of six years. The data obtained exactly correlated to improvement or deterioration in the patients' condition. Regular parodontoplethysmography is recommended in order to observe the course of the disease more objectively. Some of the examined patients roentgenographically showed a widening of the periodontal space, a typical feature of systemic sclerosis. 相似文献
992.
Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis 总被引:1,自引:0,他引:1
Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented reticulate macules in a Blaschko linear arrangement without atrophy or preceding inflammation. Underlying chromosomal mosaicism was often assumed, but has been verified in only a few published cases. We report a 7-year-old boy with LWNH associated with congenital ventricular septal defect and psychomotor retardation. Prenatal chromosomal analysis of amniocytes revealed trisomy 20 mosaicism, which was not confirmed in peripheral blood lymphocytes after birth. Histologic sections of skin biopsy specimens taken at age 6 years showed hyperpigmentation of the basal epidermal layer with prominent melanocytes and isolated melanophages in the upper dermis. Cytogenetic analysis of cultured skin fibroblasts revealed an extra chromosome 20 in 5 of the 30 metaphases studied (17%). Mosaic trisomy 20 is one of the most common autosomal mosaicisms identified in amniocytes and is, as a rule, compatible with normal pregnancy outcome. In postnatal analysis of peripheral blood lymphocytes, an extra chromosome 20 could never be detected. However, when confirmed in skin fibroblasts, trisomy 20 mosaicism may be associated with systemic anomalies. The present case shows for the first time an association of LWNH with trisomy 20 mosaicism and emphasizes the importance of analyzing skin fibroblasts in cases of prenatally diagnosed trisomy 20. 相似文献
993.
994.
Severity and phenotype of bullous pemphigoid relate to autoantibody profile against the NH2- and COOH-terminal regions of the BP180 ectodomain 总被引:1,自引:0,他引:1
Hofmann S Thoma-Uszynski S Hunziker T Bernard P Koebnick C Stauber A Schuler G Borradori L Hertl M 《The Journal of investigative dermatology》2002,119(5):1065-1073
Bullous pemphigoid, the most common autoimmune subepidermal bullous disorder, is associated with autoantibodies targeting antigenic sites clustered within the extracellular domain of BP180. To investigate epitope and subclass specificity of autoantibodies in bullous pemphigoid, we developed an enzyme-linked immunosorbent assay utilizing baculovirus-expressed recombinant forms of the NH2- and COOH-terminal regions of the extracellular domain of BP180 and examined sera obtained from patients with active bullous pemphigoid (n=116) and controls (n=100). Ninety-three (80%) and 54 (47%) of the 116 bullous pemphigoid sera recognized the NH2- and COOH-terminal regions, respectively, of the extracellular domain of BP180. Detailed analysis demonstrates that (i) this novel enzyme-linked immunosorbent assay is highly specific (98%) and sensitive (93%) as 108 of 116 bullous pemphigoid sera reacted with at least one of the baculovirus-derived recombinants, (ii) in active bullous pemphigoid, autoantibodies against the NH2-terminus of the extracellular domain of BP180 were predominantly of the IgG1 class, whereas a dual IgG1 and IgG4 response to this region was related to a more severe skin involvement, (iii) autoreactivity against both the NH2- and COOH-terminal regions was more frequently detected in patients with mucosal lesions, and (iv) levels of IgG (and IgG1) against the NH2-terminal, but not against the COOH-terminal portion of the extracellular domain of BP180, reflected disease severity indicating that autoantibodies against the NH2-terminus are critical in the pathogenesis of bullous pemphigoid. In conclusion, this novel enzyme-linked immunosorbent assay represents a highly sensitive and specific assay for rapid diagnosis of bullous pemphigoid and related disorders and may provide predictive parameters for the management of bullous pemphigoid patients. 相似文献
995.
Mandy B Belfort John AF Zupancic Katherine M Riera Jane HG Turner Lisa A Prosser 《BMC pediatrics》2011,11(1):12
Background
Childhood obesity is a substantial public health problem. The extent to which health state preferences (utilities) are related to a child's weight status has not been reported. The aims of this study were (1) to use a generic health state classification system to measure health related quality of life and calculate health utilities in a convenience sample of children and adolescents and (2) to determine the extent to which these measures are associated with weight status and body mass index (BMI). 相似文献996.
Background
Persistent cervical lymphadenopathy is the typical clinical manifestation of nontuberculous mycobacterial (NTM) infection in otherwise healthy children 1–5 years of age. A positive NTM culture or PCR is necessary to proof the diagnosis. In the case of localized disease, cervical lymphadenectomy simultaneously serves both diagnosis and therapy. A typical complication of surgical treatment, i.e. incision, puncture or excision, is the formation of a fistula, which then requires further surgical intervention. In the case of an unconfirmed diagnosis, the extent of the initial surgical intervention remains unclear.Patients and methods
On the basis of this diagnosis, 17 operations were performed in 10 children under the age of 7 years (8 female, 2 male; age 17 months to 5 years, median 36 months) in the Charité ENT clinics between 2009 and 2012. Clinical course and diagnostics, as well as the results of therapies and treatments were retrospectively analysed.Results
Duration of anamnesis prior to initial surgery was 2–30 weeks (mean 10.4 weeks). A second intervention was performed in 7 out of 10 patients. No patient developed recurrent disease after selective cervical lymphadenectomy. The clinical course of 1 patient was complicated by a cefuroxime-responsive Staph. aureus superinfection. A second patient experienced transient accessory nerve paresis after lymphadenectomy, which resolved 2 months after the second surgery.Conclusion
In case of persistent cervical lymphadenopathy a complete diagnostic workup is necessary. If lymphadenopathy continues to persist 1 month after a 10-day course of broad-spectrum antibiotics, a selective cervical lymphadenectomy should be performed. In order to avoid the development of fistulae and avoid secondary surgical procedures, incision, drainage and puncture should be deferred. 相似文献997.
Mario Cebulla Sofia Hofmann Wafaa Shehata-Dieler 《International journal of pediatric otorhinolaryngology》2014
Objectives
The aim of this study is to evaluate the sensitivity of our hearing screening program. The evaluation was done using a questionnaire for parents of children who participated in the NHS for a targeted time frame of two years. A survey was accomplished to identify children who passed our screening protocol in the newborn period, but who were later identified to have hearing loss.Methods
For the survey a one-year cohort was established in 2008 which included 500 children who received a hearing screening at our Center with the ABR newborn screener, MB11 BERAphone®, two years before. Two hearing questionnaires were chosen for the survey. The LittlEARS questionnaire (MED-EL Medical Electronics GmbH) for investigating the hearing behavior of the children during the first two years of life and a second, custom-developed questionnaire (Würzburger questionnaire) investigating some aspects which are not included in the LittlEARS tool, such as speech/language development, general development as well as pathological factors that might eventually lead to a temporary hearing loss.Results
Analysis of the Würzburger questionnaires revealed normal speech development for 92.9% of the children. For 4.7% male and 2.4% female children delayed speech development was reported. Although twice as many males were found, the statistical comparison showed no significant difference according to gender. The results of the LittlEARS questionnaire are identical to those of the Würzburger questionnaire in 98.3% of the investigated cases and in 1.7% of the cases slightly different results but on borderline: The LittlEAR scores showed normal auditory development for the childrens’ age but the Würzburger questionnaire results showed delayed speech development.Conclusions
Based on the follow-up analysis and the results from the two questionnaires, no permanent hearing loss was found in any child two years after they passed the newborn hearing screening. Thus, we conclude that the sensitivity of the screening test was 100%, based on survey results 2 years post screening. 相似文献998.
999.
1000.
Tugnait M Lenz EM Phillips P Hofmann M Spraul M Lindon JC Nicholson JK Wilson ID 《Journal of pharmaceutical and biomedical analysis》2002,28(5):875-885
A combination of 19F, 1H NMR and HPLC-NMR spectroscopic approaches have been used to quantify and identify the urinary-excreted metabolites of 4-trifluoromethoxyaniline (4-TFMeA) and its [13C]-labelled acetanilide following i.p. administration at 50 mg/kg to rats. The major metabolite excreted in the urine for both compounds was a sulphated ring-hydroxylated metabolite (either 2- or 3-trifluoromethyl-5-aminosulphate) which accounted for approximately 32.3% of the dose following the administration of 4-TFMeA and approximately 29.9% following dosing of the acetanilide. The trifluoromethoxy-substituent appeared to be metabolically stable, with no evidence of O-detrifluoromethylation. There was no evidence of the excretion of N-oxanilic acids in urine, of the type seen with 4-trifluoromethylaniline. 相似文献