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1.
Neurofibromatosis Type 1 Diagnosed in a Child Based on Multiple Juvenile Xanthogranulomas and Juvenile Myelomonocytic Leukemia
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Sune R. R. Jans M.D. Eckhard Schomerus M.D. Anette Bygum M.D. 《Pediatric dermatology》2015,32(1):e29-e32
An association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age. The child is well today after treatment with chemotherapy and allogenic bone marrow transplantation. With increased awareness, patients with JXG and NF1 who develop symptoms possibly related to JMML, such as paleness, skin bleeding, cough, unexplained fever, and hepatosplenomegaly, should be further evaluated. We also emphasize that multiple JXG lesions can be an early marker of NF1. 相似文献
2.
Validation of a simplified technique for using the POPQ pelvic organ prolapse classification system 总被引:3,自引:2,他引:1
Steven Swift Sarah Morris Vikki McKinnie Robert Freeman Eckhard Petri Richard J. Scotti Peter Dwyer 《International urogynecology journal》2006,17(6):615-620
Our objective was to determine the inter-examiner agreement of a simplified pelvic organ prolapse quantification (POPQ) exam and to assess its correlation with the standard POPQ exam. This study consists of two parts; both were preformed in a prospective, randomized, blinded fashion on women presenting with complaints attributed to pelvic organ support defects. The first study was done to determine the inter-examiner reliability of a simplified POPQ exam. The simplified POPQ exam is based on the POPQ with similar ordinal staging but with only four points measured instead of nine. Forty-eight women underwent exams by five different investigators. The order of exams was randomized and the examiners were blinded to the results of each other’s findings. The results of these two exams were compared using weighted kappa statistics. The second part of the study was done to determine the inter-system agreement between the simplified vs standard POPQ exam. A group of 49 women were examined by four different investigators: one using the simplified and the other using standard POPQ exams. The order of the exams was randomized and the examiners were blinded to the results of each other’s exam. Kendall’s tau-b statistics were used to determine the inter-system agreement. For the inter-examiner reliability of the POPQ exam, the average age was 60±13 years. The weighted kappa statistics for the inter-examiner reliability of the simplified prolapse classification system were 0.86 for the overall stage, 0.89 and 0.86 for the anterior and posterior vaginal walls, respectively, 0.82 for the apex/cuff, and 0.72 for the cervix. All demonstrate significant agreement. For the inter-system association between the simplified POPQ and standard POPQ, the average age was 61±15 year. The Kendall’s tau-b value for overall stage was 0.90, 0.83, and 0.87 for the anterior and posterior walls respectively, and 0.78 for the cuff/apex and 0.98 for the cervix. There is good inter-examiner agreement of a simplified POPQ classification system and it appears to have good inter-system association with the POPQ.IUGA Standardization of Terminology Committee members: Robert Freeman MD (chairman), Steven Swift, Eckhard Petri MD, Richard J. Scotti MD, and Peter Dwyer MD. 相似文献
3.
Hinrich Böhner Detlef Kindgen-Milles Andreas Grust Rolf Buhl Wolf-Christian Lillotte Barbara T. Müller Eckhard Müller Günter Fürst Wilhelm Sandmann 《Langenbeck's archives of surgery / Deutsche Gesellschaft fur Chirurgie》2002,387(1):21-26
BACKGROUND: The efficacy of nasal continuous positive airway pressure (nCPAP) as a prophylactic method for preventing cardiopulmonary complications after major vascular surgery has not been investigated. PATIENTS/METHODS: In a prospective randomized trial, 204 patients undergoing elective midline laparotomy for vascular surgery were randomized to receive standard therapy ( n=105) or additional prophylactic nCPAP ( n=99) for the first postoperative night. Postoperative oxygenation, incidence of severe cardiac, and pulmonary complications, length of intensive care surveillance and length of total postoperative hospital stay (LOS) were compared. RESULTS: Prophylactic nCPAP significantly reduced the number of patients with severe oxygenation disturbances defined as paO(2) < 70 mmHg with FiO(2) > or = 0.7 (5 versus 17, P=.01). There were no differences with respect to death, cardiac and pulmonary complications, length of intensive care surveillance or LOS. CONCLUSION: Prophylactic 12 h nCPAP significantly reduces the occurrence of postoperative oxygenation disturbances but has no effect on cardiac or pulmonary complications, need for intensive care, LOS or mortality after major vascular surgery. 相似文献
4.
Jairo R. Martinez Marvin D. Rausch James C. W. Chien Helmut G. Alt 《Macromolecular chemistry and physics.》1989,190(6):1309-1317
Acetylene was polymerized by (η-Cp)2Ti(PMe3)2 at room temperature to give predominantly trans-polyacetylene. All properties are within the ranges reported for polyacetylene produced with Ti(OBu)4/AlEt3 as catalyst. 相似文献
5.
Effects of enteral feedback inhibition on motility,luminal flow,and absorption of nutrients in proximal gut of minipigs 总被引:2,自引:0,他引:2
Andreas Huge Eckhard Weber Prof. Dr. Hans-Jörg Ehrlein 《Digestive diseases and sciences》1995,40(5):1024-1034
We wanted to clarify whether the postprandial intestinal feedback control activated by nutrients in the distal gut exerts different effects on motility, transit of digesta, and absorption of nutrients in the proximal gut. Additionally, interrelationships among motility, transit, and absorption were to be elucidated because these relationships have only been investigated in the fasted state. In five minipigs, a 150-cm segment of the proximal jejunum was isolated by two cannulas. Motility of the jejunal segment was recorded by multiple strain gauges and analyzed by computerized methods. Markers (Cr- and Cu-EDTA) were used for the measurement of the flow rate, transit time, and absorption of nutrients. After a meal, the test segment was perfused with 2 kcal/min of an elemental diet over a period of 90 min. A feedback inhibition was activated by infusion of nutrients into the midgut at rates of 1–4 kcal/min. Saline was infused as control. With increasing energy loads infused into the midgut, the motility index and the length of contraction waves decreased, whereas the incidence of stationary contractions increased, ie, the motility changed from a propulsive to a segmenting pattern. These modulations of motility were associated with a linear decrease in the flow rate and a linear increase in transit time. Flow and transit were linearly correlated with each other. Additionally, the reduction in flow rate and the delay in luminal transit were associated with a linear increase in the absorption of nutrients. However, the increase in absorption induced by the feedback mechanism was small (7.3–13.4%) compared to the marked inhibition of the motility parameters (54–64%), the flow rate (59%), and the delay of transit (5.8-fold). Feedback control primarily modulated motor patterns and luminal flow, whereas the small increase in absorption was only a side effect due to the longer contact time of the nutrients with the mucosa.The study was supported by the Deutsche Forschungsgemeinschaft, grant Eh 64/6-3. 相似文献
6.
7.
Bettina Seiberlich Nicolas Hunzelmann Axel Roers Manfred Weber Eckhard Schulze-Lohoff 《Medizinische Klinik》2005,108(4):137-142
Namensgebend für das Jo-1-Syndrom sind Autoantikörper gegen das Jo-1-Antigen, die bei diesem Krankheitsbild im Serum der betroffenen Patienten nachgewiesen werden. Der Name Jo-1 leitet sich von dem ersten Patienten (John P.) ab, bei dem diese Antikörper gefunden wurden. Dieser Patient litt an einer Polymyositis und fibrosierenden Alveolitis. Das Jo-1-Antigen ist identisch mit der Histidyl-Transfer-RNA-Synthetase im Zytosol. Das Jo-1-Syndrom gehört zu einer Familie von Autoimmunerkrankungen, die als Anti-Synthetase- Syndrome bezeichnet werden. Diese Syndrome haben gemeinsam, dass jeweils Autoantikörper gegen unterschiedliche Aminosäure-Transfer-RNASynthetasen nachweisbar sind. Klinisch handelt es sich beim Jo-1-Syndrom um eine Sonderform der Poly- bzw. Dermatomyositis von bisher ungeklärter Ätiologie. Neben einer Muskelbeteiligung kommt es charakteristischerweise zu einer interstitiellen Lungenbeteiligung, die auch prognostisch das Krankheitsbild bestimmt. Zusätzlich können klinisch eine Polyarthritis und weitere Symptome bestehen, die dem klinischen Bild anderer Kollagenosen ähneln. Ebenso wie die Polymyositis und Dermatomyositis kann sich das Jo-1-Syndrom in sog. Myositis-Overlap-Syndromen präsentieren. Zu dieser Diagnose führt ein Symptomenkomplex, der die klare Zuordnung zu einer einzelnen Erkrankung nicht möglich macht. Häufig werden in solchen Fällen U1-RNP-Antikörper nachgewiesen. Therapeutisch spricht das Jo-1-Syndrom auf die Gabe von Kortikosteroiden und—falls notwendig—Azathioprin, Methotrexat und Cyclophosphamid an. Eine Kurzbeschreibung von zwei klinischen Fällen stellt das Krankheitsbild anschaulich dar. 相似文献
8.
Erich Stoelben Holger Harpering Joerg Haberstroh Antonio di Filippo Eckhard Wellens 《European journal of cardio-thoracic surgery》2003,23(1):15-20
INTRODUCTION: The successful use of cryopreserved tracheal allografts in canine models suggests their use in humans. The grade of genetic difference, the mechanism of revascularisation and the method of cryopreservation are not clearly defined. The purpose of our study was to investigate the rejection of tracheal transplants in a standardised heterotopic rat model using different forms of cryopreservation. METHODS: Tracheae from Brown Norway rats were implanted into the omentum from Brown Norway rats or Lewis rats. We transplanted fresh isografts or allografts and pretreated isografts or allografts. Cryopreservation was performed in a medium containing 10% dimethyl sulphoxide at -80 degrees C for 28 days (I) or -196 degrees C for 84 days (II) or without medium at -80 degrees C for 28 days (III). The transplants were excised after 7 and 21 days, respectively. RESULTS: Histological examinations revealed normal structure and function of isografts after 21 days. In the cryopreserved isograft, the epithelium had disappeared and the tracheal lumen was partially obstructed by a non-compact fibrous tissue. In the fresh allografts, the epithelium was replaced by aggressive fibrous tissue, infiltrating the membranous part of the trachea and occluding the tracheal lumen. The cartilage was vital without any sign of rejection. In the cryopreserved allografts, the tracheal lumen was obstructed by dense fibrous tissue with an inflammatory reaction. The cartilage of cryopreserved allografts (II) and (III) had lost the nuclei corresponding to non-vital tissue. Only in the cryopreserved allografts (I) did we find nodular regeneration at the edges of the cartilaginous bow. CONCLUSIONS: The heterotopic transplantation model allows the study of the mechanisms leading to tracheal obstruction. Cryopreservation was found to have no clear advantage in reducing transplant immunogenicity. Cryopreservation leads to significant damage to the cartilage, the intensity of which is dependent on the mode of cryopreservation. 相似文献
9.
M P Arpin M Alt J C Kheiralla G Chabrier M Welsch J L Imbs M Imler 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》1991,12(4):309-311
We report the cases of two patients who, after prolonged amiodarone therapy developed hyperthyroidism and immune haemolytic anaemia. Antibodies were of the IgG type and non-specific at elution. A search for other causes of haemolytic anaemia with positive Coombs' test gave negative results. Antiamiodarone antibodies have recently been discovered; they reflect an immunological disturbance due to this drug and might be responsible for some of the undersirable effects of amiodarone. In our patients, hyperthyroidism and haemolytic anaemia were induced by a dual mechanism: accumulation of amiodarone and induction of an effect of this drug on the immune system. 相似文献
10.
Although an exercise-induced increase in blood temperature has been well-known for some time, there was still some doubt whether the change in central venous blood temperature with short-lasting and repetitive physical exercise can be measured and utilized by a temperature controlled pacing system. We studied the central venous blood temperature with short-lasting and repetitive exercise in ten healthy young volunteers and in ten pacemaker patients. The blood temperature was measured intracardially while they walked upstairs. A height of 20 m was covered within 100 +/- 5 s. An oxygen uptake of 27 ml/min/kg was calculated for this level of exercise. After walking upstairs once, the volunteers had an increase in central venous blood temperature of 0.3 degrees C and the pacemaker patients of 0.37 degrees C. After walking upstairs three times, the volunteers had an overall rise in blood temperature of 0.67 degrees C and the pacemaker patients of 0.86 degrees C. Thus, the central venous blood temperature shows a pronounced, measurable increase with short-lasting exercise as well. However, the rises in blood temperature accumulate with repetitive exercise, as the duration of exercise (100 s) when walking upstairs once is not sufficient for a new level of temperature to be reached according to the level of exercise. Thus, a temperature controlled pacing system should take these complex changes into consideration. 相似文献