Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.
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Biomedical subjects
Publications and source records attributed to H Schmidt.
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Chronic obstructive bronchitis with inadequate response to inhaled steroid and bronchodilator therapy is a rather rare disorder in children. Persistence of an adenoviral infection has been described as a possible cause of unremitting airway obstruction. We studied a group of 11 children with the clinical feature of chronic bronchial obstruction. A high-resolution computed tomography (HR-CT) scan was performed and typically showed hyperinflation and ground-glass-like opacities. All children underwent either bronchoscopic transbronchial or open lung biopsy. Biopsy specimens were stained with monoclonal antibodies detecting adenoviral antigen and analyzed by light-microscopy. Bronchoalveolar lavage (BAL) fluid was cultured for adenovirus, and antigen detection tests were performed. While some children had a history of proven adenoviral infection at the onset of their disease, in none of the cases could a persistence of adenovirus be shown. We conclude that adenoviral infection might act as a starter of chronic obstructive bronchitis in children, but that pathogenetic mechanisms other than persistent infection must be responsible for the chronicity of the disease.
To evaluate the impact of effluent from a sewage treatment works on fish health, serum chemistry variables were investigated in brown trout (Salmo trutta L.) held in cages (active monitoring) and wild brown trout (passive monitoring). Means of the measured serum parameters of the different treatment groups were close or within normal ranges. However, the results of the active monitoring demonstrated that the serum variables of reference trout held in tap water were clearly different from those of the river treatment groups. In the active monitoring, fish exposed to effluent from the sewage treatment works had significantly different blood urea nitrogen and bilirubin values than fish kept in river water. In the passive monitoring, total protein, blood urea nitrogen, and alkaline phosphatase were significantly different between the two groups. Of the numerous correlations between serum chemistry parameters and histological lesions, blood urea nitrogen and alkaline phosphatase were found to most strongly indicate gill and liver lesions, respectively. In the passive monitoring correlations between serum chemistry variables and histopathological lesions were restricted to bilirubin and liver lesions. This indicates that the application of serum chemistry variables as indicators of histological lesions in case of chronic exposure is questionable. A multivariate discriminant analysis was used to consider relationships between the single serum variables concurrently.
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In this study we compared operating room (OR) efficiency of total intravenous anaesthesia (TIVA) with remifentanil and propofol and balanced anaesthesia (BAL) with fentanyl and isoflurane in cataract surgery using computersimulation. We simulated patient flow for one OR and for three ORs. Time intervals of patient flow were randomly generated from the results of a prospective, randomized trial. Both for one and for three ORs, the postanaesthesia care unit (PACU) finished earlier and one additional case per OR and per day could be performed when TIVA was used for the procedures. Overtime in the PACU was less after TIVA. With a workload of 13 or 15 operations per day in three ORs, monitoring equipment for an additional patient in the PACU was required when BAL was used. TIVA with remifentanil and propofol was associated with more OR efficiency than balanced anaesthesia with fentanyl and isoflurane when given for cataract surgery.
INTRODUCTION: Disadvantages of rigid procto-rectoscope systems are the lack of sufficient visual documentation, data processing and the insufficient demonstration for educational purposes. Therefore a video documentation system for rigid procto-rectoscopy (Endovision Telecam SL) was developed. METHOD: For evaluation of the Endovision Telecam SL, the system was compared to the conventional technique over a 6-month period. RESULTS: The Endovision Telecam SL offers the advantage of flexible video-endoscopy and displays an excellent quality of documentation for rigid procto-rectoscopy. The handling of the system is slightly more time-consuming and difficult and the use is limited to cases without severe bleeding and stool contamination. CONCLUSIONS: The Endovision Telecam SL combines the advantages of flexible video-endoscopy in documentation, demonstration and data processing with the practibility of rigid instruments for procto-rectoscopy. In the present set-up the system is still limited to special indications and should be combined with conventional procedures.
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This meeting report summarizes the presentations of three different groups that are active in the field of flow cytometry (FCM) in relation to diagnosing and classification of proliferative disorders. The report starts with the contribution from Regensburg about the developments in DNA FCM, the progression to dual parameter determinations, and combination of immunophenotyping in combination with DNA. In the second part, the use of FCM for the detection of isolated tumor cells in the peripheral blood from patients with prostate or breast cancer is discussed in a contribution from Münster. In the third part, from Heerlen, the use of multi-parameter FCM on formalin-fixed paraffin-embedded tissues from solid tumors is discussed as a new development and application in routine surgical pathology.
Premature adrenarche/pubarche in male patients with Prader-Labhart-Willi syndrome may be associated with increased growth velocity and bone age acceleration.
UNLABELLED: Supernumerary nipples or polythelia are developmental abnormalities located along the embryonic mammary lines. It is the most common form of accessory breast tissue malformation and usually occurs sporadically but familial aggregation has been reported. Polythelia has been reported in association with congenital malformations, in particular with renal anomalies. Polymastia in female patients has been reported to manifest usually during pregnancy or lactation. We report on a pedigree with six cases of polythelia over three generations and one case of polythelia and polymastia in the youngest member of this family. The girl (11 years old ) had in addition to six supernumerary nipples, an accessory breast gland located under the normal left breast. No other congenital malformations could be detected. This girl will remain under follow-up until the end of puberty when the accessory breast gland will be removed. Manifestation of polymastia during puberty rarely has been reported. CONCLUSION: Polymastia may appear with familial polythelia even without renal anomalies.
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BACKGROUND: Autologous transfusion of shed mediastinal blood is often used after coronary artery bypass grafting (CABG). Shed blood has in a few studies been cultured during the first postoperative hours. However, autologous transfusion might in some cases be continued for several hours and no study has yet examined the bacterial contamination of shed blood later than 6 hours postoperatively. METHODS: Seventy-five patients undergoing electively performed CABG were included. Cultures of shed blood were taken at initiation of the autologous transfusion and the following morning. Infection variables were measured preoperatively and postoperatively. Infectious complications during the first postoperative week were registered. RESULTS: The frequency of patients with bacterial growth in the first culture was 0.22 (95% confidence interval: 0.12 to 0.31) compared with 0.04 (95% confidence interval: -0.044 to 0.087) in the second culture (p < 0.002). We found no significant difference in infection variables between patients with or without bacterial growth in the cultures. No patients suffered from early postoperative infectious complications. CONCLUSIONS: There is no further contamination of the shed blood during the period between initiating the autologous transfusion and the following morning.
The present study investigated the role of various protective and vulnerability factors in the development of depressive symptoms. A sample of normal adolescents (N=373) completed the Children's Depression Inventory and measures of a negative attributional style, parental rearing behaviour, coping styles, and perceived self-efficacy. In addition to computing the correlations between depression and these protective and vulnerability factors, the present data were also subjected to structural equations modelling to examine the correlational structure of the data. Depression was accompanied by high levels of parental rejection, negative attributions, and passive coping, and by low levels of active coping and self-efficacy. Furthermore, a model in which negative parental rearing behaviour and a negative attributional style featured as the primary sources of depression, while coping styles and self-efficacy played a mediating role in the formation of depressive symptoms, provided a reasonable fit for the data.
Thought-action fusion (TAF) refers to a set of cognitive biases that are thought to play a role in the development of obsessional phenomena. To measure these biases, R. Shafran, D. S. Thordarson, and S. Rachman (1996; Journal of Anxiety Disorders, 10, 379-391) developed the TAF-scale. They concluded that the TAF-scale possesses adequate psychometric qualities. The current study sought to further explore the reliability and validity of the TAF-scale. Results indicate that the TAF-scale has good internal consistency. TAF-scores correlated with self-reports of obsessional problems. Furthermore, mean scores in a mixed sample of anxiety disordered patients were higher than those in a normal sample. However, temporal consistency was somewhat disappointing. Also, the question remains whether TAF is specific to obsessive-compulsive disorder or taps more pervasive biases that play a role in a variety of disorders.
In a previous study, Muris, Merckelbach, Wessel, and Van de Ven [Psychopathological correlates of self-reported behavioural inhibition in normal children. Behav. Res. Ther. 37 (1999) 575-584] found that children who defined themselves as high on behavioural inhibition displayed elevated levels of psychopathological symptoms compared to children who defined themselves as low or middle on behavioural inhibition. The present study further examined the relationship between self-reported behavioural inhibition and anxiety disorders and depression symptoms in a large sample of adolescents aged 12-18 years (N=968). Adolescents completed a measure of behavioural inhibition and questionnaires of anxiety and depression. Results indicated that adolescents who classified themselves as high on behavioural inhibition had higher scores of anxiety and depression than adolescents who classified themselves as low or middle on behavioural inhibition. Structural equations modelling was employed to test hypothetical models on the role of behavioural inhibition in childhood anxiety and depression. It was found that a pathway in which behavioural inhibition results in anxiety, which in turn leads to depression, provided the best fit for the data.
The current study examined the anxiety sensitivity construct in a large sample of normal Dutch adolescents aged 13-16 years (n=819). Children completed the Childhood Anxiety Sensitivity Index (CASI; Silverman, W. K., Fleisig, W., Rabian, B. & Peterson, R. A. (1991). Journal of Clinical Child Psychology, 20, 162-168) and measures of trait anxiety, anxiety disorder symptoms and depression. Results showed that (1) anxiety sensitivity as indexed by the CASI seems to be a hierarchically organized construct with one higher-order factor (i.e., anxiety sensitivity) and three or four lower-order factors, (2) anxiety sensitivity and trait anxiety were strongly correlated, (3) anxiety sensitivity was substantially connected to symptoms of anxiety disorders (in particular of panic disorder and agoraphobia) and depression, and (4) anxiety sensitivity and trait anxiety both accounted for unique proportions of the variance in anxiety disorder symptoms. Altogether these findings are in agreement with those of previous research in adult and child populations, and further support the notion that anxiety sensitivity should be viewed as an unique factor of anxiety vulnerability.
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