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https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#1
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917343/long-term-outcomes-for-cryotherapy-in-barrett-s-esophagus-with-high-grade-dysplasia-just-cracking-the-ice
#2
EDITORIAL
Koushik K Das, Gary W Falk
No abstract text is available yet for this article.
October 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28917342/endoscopic-submucosal-dissection-in-endotherapy-for%C3%A2-barrett-s-esophagus-related-dysplasia-and-neoplasia-an%C3%A2-essential-or-optional-technique
#3
EDITORIAL
Prasad G Iyer
No abstract text is available yet for this article.
October 2017: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28915523/-biologic-reconstruction-of-full-sized-cartilage-defects-of-the-hip-a-guideline-from-the-dgou-group-clinical-tissue-regeneration-and-the-hip-committee-of-the-aga
#4
Stefan Fickert, Matthias Aurich, Dirk Albrecht, Peter Angele, Lorenz Büchler, Michael Dienst, Christoph Erggelet, Jürgen Fritz, Christoph Gebhart, Hans Gollwitzer, Moritz Kindler, Christoph Lampert, Henning Madry, Gregor Möckel, Phillip Niemeyer, Jörg Schröder, Christian Sobau, Gunter Spahn, Wolfgang Zinser, Stefan Landgraeber
Background Symptomatic pre-arthritic deformities such as femoroacetabular impingement (FAI) or hip dysplasia often lead to localised cartilage defects and subsequently to osteoarthritis. The present review of the working group "Clinical Tissue Regeneration" of the German Society of Orthopaedics and Trauma (DGOU) and the hip committee of the AGA (German speaking Society for Arthroscopy and Joint Surgery) provides an overview of current knowledge of the diagnosis and surgical treatment of cartilage defects, in order to infer appropriate therapy recommendations for the hip...
September 15, 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28914664/three-dimensional-mri-analyses-of-prereduced-femoral-head-sphericity-in-patients-with-developmental-dysplasia-of-the-hip-after-pavlik-harness-failure
#5
Yuta Tsukagoshi, Hiroshi Kamada, Ryoko Takeuchi, Shogo Nakagawa, Yohei Tomaru, Makoto Kamegaya, Tomofumi Nishino, Yoshikazu Okamoto, Hajime Mishima, Masashi Yamazaki
We used three-dimensional (3D) MRI to assess the sphericity of the cartilaginous femoral head in developmental dysplasia of the hip. We assessed 21 children using 3D-MRI. The smallest sphere including the femoral head cartilage was drawn, the diameter was measured, and the center of the sphere was defined. We compared the diameters of the femoral heads between unaffected and diseased sides. The diameter of the affected side was smaller, with flattening at the posteromedial area and proximoposterior areas. 3D-MRI showed that the shape of the dislocated femoral head was aspherical with focal growth failure...
September 13, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28913687/non-atherosclerotic-vascular-disease-in-women
#6
REVIEW
Lee Joseph, Esther S H Kim
Takayasu arteritis, fibromuscular dysplasia (FMD), spontaneous arterial dissection, Raynaud's phenomenon, and chilblains are vascular conditions that are associated with an increased predisposition in women and are often underdiagnosed. Takayasu arteritis has an incidence rate of 2.6 cases per million individuals per year in the USA and predominantly affects women of childbearing age. HLA-B5 genetic locus is linked with Takayasu arteritis susceptibility. Methods to determine active disease are limiting; currently utilized clinical and imaging findings and laboratory tests are of limited value for this purpose...
September 14, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28912198/frequency-of-low-value-care-in-alberta-canada-a-retrospective-cohort-study
#7
Finlay A McAlister, Meng Lin, Jeff Bakal, Stafford Dean
OBJECTIVE: To determine how frequently 10 low-value services highlighted by Choosing Wisely are done and what factors influence their provision. METHODS: This is a retrospective cohort study using routinely collected health data from five linked data sets from 2012 to 2015 in the Canadian province of Alberta to determine the frequency with which 10 low-value services were provided. RESULTS: Between 2012 and 2015, 162 143 people (4% of all 3 814 536 adult Albertans and 5% of the 3 423 135 who saw a physician at least once in that time frame) received at least one of the 10 low-value services, including 29...
September 14, 2017: BMJ Quality & Safety
https://www.readbyqxmd.com/read/28911842/genetic-correlations-of-hip-dysplasia-scores-for-golden-retrievers-and-labrador-retrievers-in-france-sweden-and-the-uk
#8
S Wang, G Leroy, S Malm, T Lewis, Å Viklund, E Strandberg, W F Fikse
In order to reduce the prevalence of inherited diseases in pedigree dogs, the feasibility of implementation of an international breeding program was investigated. One prerequisite is a strong genetic correlation between countries and our objective was to estimate this correlation for canine hip dysplasia (HD) across three countries to evaluate the feasibility of an international genetic evaluation. Data were provided by the Société Centrale Canine (SCC, France), Svenska Kennelklubben (SKK, Sweden) and The Kennel Club (KC, UK) on Golden retriever and Labrador retriever dogs...
August 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28910695/mds-classification-is-improving-in-an-era-of-the-who-2016-criteria-of-mds-a-population-based-analysis-among-9159-mds-patients-diagnosed-in-the-netherlands
#9
Avinash G Dinmohamed, Otto Visser, Eduardus F M Posthuma, Peter C Huijgens, Pieter Sonneveld, Arjan A van de Loosdrecht, Mojca Jongen-Lavrencic
BACKGROUND: Morphologic and cytogenetic assessments are required to characterize diagnostic and prognostic features of myelodysplastic syndromes (MDS). We assessed whether these assessments were performed among newly diagnosed MDS patients in the Netherlands. METHODS: MDS cases were retrieved from the nationwide Netherlands Cancer Registry (N=9159; period 2001-2014) and the regional PHAROS MDS registry (N=676; period 2008-2011). RESULTS: The proportion of unclassified MDS decreased from 58% in 2001 to 13% in 2014...
September 11, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28910688/aortic-fibromuscular-dysplasia-complicated-by-dissection-a-case-report-and-review-of-literature
#10
Takashi Tasaki, Kazuhito Hatanaka, Mari Kirishima, Shun Ohnishi, Yuko Goto, Ikumi Kitazono, Tsubasa Hiraki, Sohsuke Yamada, Michiyo Higashi, Akihide Tanimoto
Fibromuscular dysplasia (FMD) is an idiopathic, segmental, nonatherosclerotic, non-inflammatory vascular disease, which is often complicated by the occurrence of dissection. Although it is known to occur in all arteries, aortic involvement is relatively rare. To date, 33 cases of aortic FMD have been reported in available English literature, among which only three cases have been complicated by the occurrence of dissection. We describe the case of a 40-year-old woman diagnosed with aortic FMD complicated by the occurrence of a type A aortic dissection...
August 9, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28906495/effects-of-a-transition-home-program-on-preterm-infant-emergency-room-visits-within-90-days-of-discharge
#11
B Vohr, E McGowan, L Keszler, M O'Donnell, K Hawes, R Tucker
OBJECTIVE: To evaluate effects of a transition home program (THP) and risk factors on emergency room (ER) use within 90 days of discharge for preterm (PT) infants <37 weeks gestation. STUDY DESIGN: This is a prospective 3-year cohort study of 804 mothers and 954 PT infants. Mothers received enhanced neonatal intensive care unit transition support services until 90 days postdischarge. Regression models were run to identify the effects of THP implementation year and risk factors on ER visits...
September 14, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28905547/-fibromuscular-dysplasia-and-hypertension-beyond-renal-arteries
#12
Grégoire Wuerzner, Caroline Krieger, Julie Bouchardy, Laurent Toubiana, Philippe Delmotte, Patricia Van der Niepen, Sébastien Déglise, Salah Qanadli, Michel Burnier, Lucia Mazzolai, Alexandre Persu
Fibromuscular dysplasia (FMD) is a disease associated with abnormalities of the arterial wall of medium-sized arteries. These abnormalities can lead to stenosis or less frequently to dissections or aneurysms. FMD is probably more frequent than initially thought. Nowadays, it is often a chance finding during a radiologic exam. In symptomatic cases, poor organ perfusion due to stenosis, dissection or aneurysm rupture may lead to the diagnosis. The aim of this non-systematic review illustrated with a clinical case is to present our current knowledge of FMD and to highlight the necessity of a standardized and multidisciplinary work-up to improve management of affected patients and understanding of the disease...
September 13, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28904918/evaluation-of-genetic-polymorphisms-in-glutathione-s-transferase-theta1-glutathione-s-transferase-mu1-and-glutathione-s-transferase-mu3-in-oral-leukoplakia-and-oral-squamous-cell-carcinoma-with-deleterious-habits-using-polymerase-chain-reaction
#13
Ayyagari Kameswara Rao, Peela Parameswar, Sumit Majumdar, Divya Uppala, Sreekanth Kotina, Naga Himabindu Vennamaneni
CONTEXT: Oral squamous cell carcinoma (OSCC) is the sixth most common cancer in the world. As per previous studies, most patients who develop oral cancer are elderly males who are heavy users of tobacco and alcohol; however, the incidence is increasing in younger individuals and in those who neither smoke nor drink. Many of the genes that code for the detoxification enzymes are polymorphic with abnormal activity profiles. AIMS AND OBJECTIVES: The aim of this study was to evaluate the risk of development of oral leukoplakia (OLP) and OSCC in glutathione S-transferase polymorphisms genes in the east coast of Andhra Pradesh population with tobacco consumption habit and habit-free controls using polymerase chain reaction (PCR-restriction fragment length polymorphism)...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904635/does-orthopaedic-surgery-improve-quality-of-life-and-function-in-patients-with-mucopolysaccharidoses
#14
N Williams, D Challoumas, D M Eastwood
PURPOSE: Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders associated with involvement of multiple organs along with a generalised skeletal dysplasia. Both haematopoetic stem cell transplant and enzyme replacement therapy have improved the outlook for patients while surgery remains high-risk and there is little information on clinical or functional outcome to justify many of the surgical procedures performed. This paper aims to summarise the orthopaedic surgical procedures in MPS patients for which quality of life (QoL) and functional data are available and to describe additional QoL and functional measurement tools of relevance to the assessment of orthopaedic outcomes in MPS...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28904633/an-improved-method-for-measuring-hip-abduction-in-spica-after-surgical-reduction-for-developmental-dysplasia-of-the-hip
#15
C J DeFrancesco, T J Blumberg, N A Chauvin, W N Sankar
PURPOSE: Excessive in-spica abduction is a risk factor for oste-onecrosis after surgical reduction for developmental dysplasia of the hip (DDH). The traditional method for radiographically measuring hip abduction using axial imaging does not reflect the true angle, which usually lies in an oblique plane. The purpose of this study was to describe a novel method for measuring true hip position using advanced imaging. METHODS: A trigonometric model was derived to define hip position based upon the femoral axis angular deviation from midline as measured on axial and coronal sequences of MRI studies...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28904632/incidence-of-acetabular-dysplasia-in-breech-infants-following-initially-normal-ultrasound-the-effect-of-variable-diagnostic-criteria
#16
C M Brusalis, C T Price, W N Sankar
PURPOSE: This study aimed to determine the incidence of acetabular dysplasia at six months of age in patients with breech presentation and previously normal hip ultrasounds, reporting primary radiographic measurements to allow for comparison with other patient cohorts. METHODS: A retrospective analysis of breech infants with initially normal clinical examinations and hip ultrasounds was performed to determine the rate of subsequent acetabular dysplasia and to characterise the distribution of acetabular index (AI)...
August 1, 2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28903838/prognostic-potential-of-n-cadherin-in-oral-squamous-cell-carcinoma-via-immunohistochemical-methods
#17
Betina Chandolia, Jai Parkash Rajliwal, Manas Bajpai, Manika Arora
OBJECTIVE: To assess the prognostic potential for N-cadherin in oral squamous cell carcinoma and oral epithelial dysplasia. STUDY DESIGN: Across-sectional study, analytical study. PLACE AND DURATION OF STUDY: Maharishi Markandeshwar College of Dental Science Research (MMCDSR), Ambala, India, from 2011 to 2014. METHODOLOGY: Immunohistochemistry was used to observe the N-cadherin expression in 100 cases having epithelium with normal oral mucosa, oral epithelial dysplastic lesions and oral squamous cell carcinoma (OSCC)...
August 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28902650/a-rare-cause-of-cyanosis-and-hypoxia-that-should-not-be-forgotten-after-implantable-cardioverter-defibrillator-implantation
#18
Uğur Canpolat, Nihan Bahadır, Levent Şahiner, Kudret Aytemir
Transvenous pacemaker or implantable cardioverter defibrillator (ICD) implantation procedures are usually performed under local anesthetic, and prilocaine is the most common agent to be used. The data regarding methemoglobinemia after cardiac device implantation are scarce. Thus, presently described is the case of a 47-year-old female patient with arrhythmogenic right ventricular cardiomyopathy/dysplasia who underwent ICD implantation for secondary prophylaxis and developed cyanosis as a result of prilocaine-associated methemoglobinemia...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28902611/accelerated-degenerative-joint-disease-after-staged-hip-arthroscopy-and-periacetabular-osteotomy-in-a-patient-with-hip-dysplasia
#19
Michael Guss, Thomas Youm
Hip dysplasia, when significant, is effectively treated with periacetabular osteotomy. There have been good results reported with hip arthroscopy when dysplasia is mild. However, when dysplasia is significant, hip arthroscopy with labral repair alone has led to poor results and even rapid decline to end stage arthritis. Staged hip arthroscopy and periacetabular osteotomy would potentially treat the labral lesion and correct the underlying bony abnormality that resulted in the labral pathology. Such a staged treatment plan should help prevent progression to degenerative joint disease...
May 2017: Bulletin of the Hospital for Joint Diseases
https://www.readbyqxmd.com/read/28902001/guided-growth-of-the-proximal-femur-for-the-management-of-hip-dysplasia-in-children-with-cerebral-palsy
#20
Nicola Portinaro, Marco Turati, Matteo Cometto, Marco Bigoni, Jon R Davids, Artemisia Panou
BACKGROUND: Progressive hip displacement is one of the most common and debilitating deformities seen in children with cerebral palsy (CP). The aim of this study was to evaluate the results of temporary medial hemiepiphysiodesis of the proximal femur (TMH-PF) using a transphyseal screw to control hip migration during growth in children with CP. METHODS: This was a retrospective study of children with CP and hip dysplasia, age 4 to 11 years and GMFCS levels III-V...
September 8, 2017: Journal of Pediatric Orthopedics
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