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排序方式: 共有880条查询结果,搜索用时 15 毫秒
1.
John Timothy Wright Mary Fete Holm Schneider Madelaine Zinser Maranke I. Koster Angus J. Clarke Smail Hadj‐Rabia Gianluca Tadini Nina Pagnan Atila F. Visinoni Birgitta Bergendal Becky Abbott Timothy Fete Clark Stanford Clayton Butcher Rena N. D'Souza Virginia P. Sybert Maria I. Morasso 《American journal of medical genetics. Part A》2019,179(3):442-447
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). 相似文献
2.
Osman Serhat Guner Latif Volkan Tumay 《Asian journal of surgery / Asian Surgical Association》2021,44(6):841-847
BackgroundIn rectal cancer, extramural vascular invasion (EMVI) is the presence of tumour cells in blood vessels outside the muscular layer, which is associated with poor prognosis. Regression of EMVI on MRI following neoadjuvant chemoradiotherapy or its persistence may have prognostic implications.MethodsThis retrospective study included 52 patients with rectal cancer who underwent total mesorectal excision following long-course neoadjuvant chemoradiotherapy (CRT). EMVI assessments were done on previous pelvic MRIs obtained before neoadjuvant CRT and eight weeks after the completion of neoadjuvant chemoradiotherapy in initially EMVI positive cases.ResultsPersistently EMVI positive patients had worse overall survival and disease-free survival compared to initially EMVI negative patients and patients who returned to negative (p < 0.001 for both). Multivariate analysis identified persistent EMVI positivity after neoadjuvant treatment (HR, 102.9; p = 0.003) as significant independent predictor of worse overall survival; and persistent EMVI positivity (HR, 17.0; p = 0.002), mesorectal fascia involvement after neoadjuvant treatment (HR, 8.0; p = 0.017), and poor differentiation (HR, 10.3, p = 0.012) as significant independent predictors of worse disease-free survival.ConclusionPersistent EMVI positivity after neoadjuvant therapy appears to be an independent factor for poor overall survival; and persistent EMVI positivity as well as mesorectal fascia involvement on post neoadjuvant therapy MRI and poor differentiation appears to be important predictors of poor disease-free survival in rectal cancer patients. 相似文献
3.
Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
4.
Rabia Hussain Dalia M. Dawoud Zaheer-Ud-Din Babar 《Research in social & administrative pharmacy》2021,17(1):1920-1924
Countries around the globe have responded to pandemic preparedness and developed strategies to cope with the COVID-19 crisis. In this context, the role of healthcare professionals is of paramount importance. Pharmacists are playing a vital role in dealing, preparedness, prevention, protection, promoting access to medicines and to improve health outcomes during this crisis. In this context, “Drive-thru” pharmacy services improve access to medicines while ensuring the preventive measures suggested by the World Health Organization. This commentary provides an overview of opportunities and challenges related to the implementation of “drive-thru pharmacy services” and their role in improving public health during this crisis. 相似文献
5.
Cetin Gecmen MD Gonca G. Gecmen MD Muzaffer Kahyaoglu MD Mehmet Aksut MD Nuri Havan MD Ahmet Guner MD Ender O. Cakmak MD Sukran Sarikaya MD Semih Kalkan MD Murat Rabus MD 《Echocardiography (Mount Kisco, N.Y.)》2017,34(8):1234-1235
An 83‐year‐old male patient presented to the outpatient clinic with complaint of swelling at right antecubital area. Ultrasonographic examination of the right upper extremity revealed a mass lesion within the right cephalic vein, which was consistent with thrombus. A computed tomography (CT) venography showed contrast enhancement in cephalic vein at distal arm and an aneurysmatic thrombus area displaying regular borders with a size of 28*30 mm; there was no contrast enhancement at more proximal levels at the cephalic vein. 相似文献
6.
Muzaffer Kahyaoglu MD Arzu Kalayci MD Cetin Gecmen MD Munevver Sari MD Ahmet Guner MD Mehmet Celik MD Ibrahim Akin İzgi MD Cevat Kirma MD 《Echocardiography (Mount Kisco, N.Y.)》2018,35(2):258-259
A 42‐year‐old female patient was referred our clinic for investigation of a history of acute retinal artery occlusion. Transthoracic echocardiography showed a cyst‐like, mobile formation on posterior mitral valve leaflet. 2D and real time 3D transesophageal echocardiography showed a flexible circular mobile structure which was attached to posterior mitral valve leaflet. Echocardiographic appearance and morphological characteristics were suggestive of accessory mitral valve tissue. 相似文献
7.
8.
Evaluation of the congenital supravalvular aortic stenosis by different imaging modalities
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Ahmet Guner MD Nuri Havan MD Sabahattin Gunduz MD Taylan Akgun MD Busra Guvendi MD Gokhan Kahveci MD 《Echocardiography (Mount Kisco, N.Y.)》2017,34(9):1376-1378
A 36‐year‐old female was admitted to hospital exhibiting chest pain, dyspnea, and a heart murmur on the right upper sternal border, radiating to both carotid arteries. The blood pressure of the patient's right arm exceeded the pressure in the left by 25 mm Hg (Coanda effect). In spite of laboratory results that did not fall outside the expected range, the left ventricle was revealed to be hypertrophic following electrocardiography. Transthoracic echocardiography revealed a severe supravalvular aortic stenosis (SVAS) with a peak Doppler velocity of 6.04 cm/s and an estimated mean pressure gradient of 89 mm Hg, with moderate aortic and mitral regurgitation. Contrast‐enhanced computed tomography (CCT) indicated a partial hourglass‐shaped narrowing of the ascending aorta. Lesions associated with supravalvular stenosis of the pulmonary artery, patent ductus arteriosus, and aortic coarctation were ruled out by the CCT. Congenital SVAS is a rare heart condition, and three anatomically distinct forms have been described. The most common type is the “hourglass,” which produces a marked thickening and disorganization of the aortic tissue, producing a constricting annular ridge at the superior margin of the sinuses of Valsalva. 相似文献
9.
10.
Ectasia and severe atherosclerosis: relationships with chlamydia pneumoniae, helicobacterpylori, and inflammatory markers 总被引:2,自引:0,他引:2
Adiloglu AK Can R Nazli C Ocal A Ergene O Tinaz G Kisioglu N 《Texas Heart Institute journal / from the Texas Heart Institute of St. Luke's Episcopal Hospital, Texas Children's Hospital》2005,32(1):21-27
To date, there has been no convincing evidence for an association between Chlamydia pneumoniae or Helicobacter pylori and ectasia. In this case-control study, we have investigated the association of H. pylori and C. pneumoniae seropositivity with ectasia, severe coronary atherosclerosis, and normal vessels, which were so classified by coronary angiography. We have also evaluated the influence of these infections on inflammatory markers such as high-sensitive C-reactive protein (hsCRP) and interleukin 6 (IL-6). Of the 796 patients undergoing coronary angiography for suspected ischemic heart disease, 244 patients were recruited. Of these, 91 had normal vessels, 88 had 3 or more obstructed vessels, and 65 had ectatic vessels without atherosclerosis. Eighty-seven atherosclerotic patients (98.9%) were positive for C. pneumoniae IgG, as were 64 ectatic patients (98.5%) and 76 controls (83.5%) (P < 0.001). Forty-two atherosclerotic patients (47.7%) were positive for C. pneumoniae IgM, as were 43 ectatic patients (66.2%) and 43 controls (47.3%) (P = 0.036). Seventy-two atherosclerotic patients (81.8%) were positive for H. pylori IgA, as were 26 ectatic patients (40.0%) and 44 controls (48.4%) (P < 0.001). High-sensitive CRP levels were significantly higher in ectatic patients (5.639 mg/L) than in controls (4.390 mg/L) (P = 0.032), and IL-6 levels were significantly higher in atherosclerotic patients (33.92 U/L) than in controls (14.01 U/L) (P < 0.001). Interleukin-6 levels were higher in H. pylori seropositive patients, and hsCRP levels were higher in C. pneumoniae seropositive patients, when compared with seronegatives. We suggest that, as in atherosclerosis, C. pneumoniae infection is related to ectasia, with raised CRP levels. 相似文献