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1.
Francisca Morgado Mariana Batista Ana Moreno Inês Coutinho 《Pediatric dermatology》2021,38(1):191-193
We present a 6‐year‐old girl with skin hyperpigmentation, leukoplakia, and onychodystrophy, the classic mucocutaneous triad usually associated with dyskeratosis congenita. The patient also had premature graying of the hair, bone marrow failure, hepatitis, exudative retinopathy, osteopenia with multiple long bone fractures, and intracranial calcifications and brain cysts. Coats plus syndrome is a rare disease with a clinical and genetic overlap with dyskeratosis congenita. This disease is reviewed, with a focus on the pathogenesis of the genetic anomalies and its background as a telomere biology disorder. 相似文献
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Anton A. Semenistyy Elena A. Litvina EA Anna G. Fedotova Chukwuweike Gwam Andrey N. Mironov 《Injury》2019,50(2):515-520
Background
Intramedullary nailing is considered a “gold standard” for treatment of tibial shaft fractures. However, some types of fractures are typically considered as “difficult for nailing”. This group includes the periarticular fractures, fractures of both bones at the same level, comminuted and segmental fractures of the tibia. Fixator-assisted nailing (FAN) is an effective method treatment of these types of fractures. The main requirements for the ideal reduction device are an ease of its installation and an ability of multiplanar fracture reduction. Fixator-assisted nailing (FAN) with the use of two perpendicular to each other monolateral tubular frames perfectly meets these requirements. In this study we present this new surgical technique and the analysis of first 30 cases.Methods
A prospective analysis was conducted for 30 patients with “difficult for nailing” tibial fractures treated with fixator-assisted nailing in our institution between September 1st, 2017, and March 1st, 2018. The duration of surgery and its different stages, the time of fluoroscopy, difficulties encountered during surgery, were analyzed. Clinical and radiological methods were used to evaluated reduction quality.Results
In all 30 cases the acceptable reduction was achieved. The mean duration of the surgical procedure was 73.7?±?3?min. The mean duration of fluoroscopy 85.9?±?4.8?s. In 7 cases we faced with technical difficulties, which were successfully addressed.Conclusion
The described technique of FAN is an effective method for the treatment of “difficult for nailing” tibial fractures. Future multi-centered studies with a larger number of patients are needed to validate our results. 相似文献3.
Enrique Cases Luis Seijo Carlos Disdier María José Lorenzo Rosa Cordovilla Francisca Sanchis Marimar Lacunza Gregoria Sevillano Fátima Benito-Sendín 《Archivos de bronconeumologia》2009,45(12):591-596
IntroductionTo analyse the effectiveness and safety of the indwelling pleural catheter in the management of recurrent malignant pleural effusion.Patients and methodsA prospective multicentre study was performed in 63 consecutive outpatients from four Spanish hospitals. A total of 43 men and 20 women were included, with a median age of 67 years. In seven of the cases treatment with pleurodesis had failed; in five other cases their lung was trapped; in another five cases after repeat therapeutic thoracocentesis, and the rest of them as a preference choice to pleurodesis. All patients had an indwelling pleural catheter inserted (PleurX®, Denver Biomedical).ResultsMost of patients (94.5%) reported an improvement in their respiratory symptoms (cough and dyspnoea) and their ability to function independently. Average length of the catheterisation was 45 days (6-222). Average amount of drained pleural effusion was 75 ml, with a frequency of drainage of between 3 and 4 times per week and once fortnightly. Spontaneous pleurodesis was achieved following 34.9% of procedures. No complications occurred during the insertion of the catheter. The post-catheterisation complications were empyema (3 cases), chest pain (2 cases), and tumour metastasis (3 cases).ConclusionsThe use of an indwelling pleural catheter is an effective palliative treatment in the outpatient management for patients suffering malignant pleural effusion. It is also a simple treatment that can be easily applied, does not require hospitalisation and can be easily managed by the patient at home, with a low rate of complications. 相似文献
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Floriana S Luppino Edward Grooters Francisca T de Bru?ne Aeilko H Zwinderman Andel G L van der Mey 《Otology & neurotology》2006,27(7):962-968
OBJECTIVE: Conservative treatment in vestibular schwannomas is mainly dependent on optimal tumor size determination. The first objective of this study was to establish interobserver and intraobserver variability and the accuracy and reproducibility of three different measurement methods: one bidimensional and two volumetrical. The second objective was to evaluate the influence of the use of different magnetic resonance imaging (MRI) slice thickness and the influence of patient's repositioning on the measurements' outcome. STUDY DESIGN: Two consecutive studies have been prospectively performed, both mainly concerning volumetrical measurements. SETTING: Both studies were performed in a tertiary academic, multidisciplinary center. PATIENTS: In the first study, 19 patients were included between March 1996 and May 2002, with a total of 52 scans. The second study comprised 14 patients. All patients in the first study had at least two MRI examinations performed according to a standard protocol (T1-weighted gadolinium-enhanced, slice thickness of 3 mm, and interslice gap of 0.3 mm). The population in the second study underwent a conservative wait and scan (W&S) treatment. METHODS: Both studies are discussed separately. In the first study, all scans were measured by four investigators, two of whom performed the measurements twice using three different methods. The first method concerns a manually performed bidimensional surface measurement along the petrous pyramid. The second method concerns a semiautomatic volumetrical measurement on a computer, relying on contour detection, and the last method concerns a fully automatic volume reconstruction also performed on a computer using different gray shade scales.All 14 patients included in the second study underwent three magnetic examinations. Three different T1-weighted gadolinium-enhanced sequences were used: the first using a slice thickness of 1 mm, the second again with 1-mm slice thickness but after having repositioned the patient. In the third sequence, a slice thickness of 3 mm was used. All scans were measured by two investigators using the three different methods, as described previously. RESULTS: The manual surface method shows large intraobserver variability, and its reproducibility is significantly lower compared with volume measurements. Because of a relatively large systematic error in small tumors, sensitivity of growth detection is low. Both volumetrical methods are hardly interobserver- and intraobserver-dependent, and the gray shade method turned out to be the most accurate. Radiologic progression is only significant at a volume increase of at least 50%. The influence of patient repositioning is negligible, whereas the use of 1-mm slice thickness seems to be superior to a 3-mm slice thickness. CONCLUSION: The volumetrical gray shade method is the most accurate method to detect early tumor progression. As tumor increase of at least 50% is needed to be able to speak of statistically significant tumor growth, the absence of radiologic progression does not mean that there is no tumor growth. Repositioning of the patient has no influence on the measurements' outcome, whereas for optimal magnetic resonance imaging examinations, a 1-mm slice thickness protocol seems to be superior. 相似文献
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Francisca M Vera Juan M Manzaneque Enrique F Maldonado Gabriel A Carranque Victor M Cubero Maria J Blanca Miguel Morell 《Medical science monitor》2007,13(12):CR560-CR566
BACKGROUND: The aim of the present study was to analyze the effects of a qigong training program on blood biochemical parameters. MATERIAL/METHODS: Twenty-nine healthy subjects participated in the study of whom 16 were randomly assigned to the experimental group and 13 to the control. The experimental subjects underwent daily qigong training for one month. Blood samples for the quantification of biochemical parameters (total cholesterol, HDL, LDL, triglycerides, phospholipids, GOT, GPT, GGT, urea, creatinine) were taken before and after the training program. As statistical analysis, ANCOVA was performed. RESULTS: Statistically significant differences were found showing that the experimental group had lower serum levels of GOT (glutamic-oxaloacetic transaminase), GPT (glutamic-pyruvic transaminase), and urea and that there was a trend towards significance in GGT (gamma-glutamyltransferase). CONCLUSIONS: This study demonstrates that after practicing qigong for the short period of one month, noteworthy changes in several blood biochemical parameters were induced. While it is tempting to speculate on the relevance and implications of these biochemical variations, further investigation is needed to elucidate the scope of these findings. 相似文献
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