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https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#1
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28919612/bone-age-determination-by-radiology-imaging-in-bangladesh-perspective
#2
M I Hossain, M G Hafiz, M A Islam, M N Islam, M M Ahsan, N Mostofa, R Mondal, M M Hossain
Determination of age is one of the most important and vital demand in legal affairs, court and young sports, especially from 7-21 years. There is no established age determination table in our county. So we are dependent upon Galstaun, Bashu & Bashu and other European tables, which sometimes provide misinterpretation and variation of opinion. We should have our own table suitable for our nation. So, this prospective study was carried out in the Department of Radiology and Imaging of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from July 2010 to June 2014 (five years) to assess the general skeletal maturity...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28917547/growth-of-the-new-thumb-metacarpal-after-pollicization-for-thumb-hypoplasia
#3
Michael A Tonkin, Nathan D Trist, Dirk J van der Spuy, Albert Yoon, Harvinder P Singh, Richard D Lawson
PURPOSE: To investigate the radiographic length and width of the new thumb metacarpal in relation to the middle finger proximal phalanx; to assess the incidence of premature physeal closure of the new metacarpal; and to consider whether there is a relationship between growth characteristics and the presence of union or nonunion of the new trapezium to the retained index finger metacarpal base. MATERIALS AND METHODS: Forty pollicizations were assessed with preoperative or immediate postoperative radiographs and follow-up radiographs to establish the growth characteristics of the new thumb metacarpal...
September 14, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28906125/imaging-of-rare-appendicular-non-acral-soft-tissue-chondromas-in-adults-with-histopathologic-correlation
#4
Mohamed Ragab Nouh, Hanan Abd El-Aziz Amr, Rola H Ali
Background Soft-tissue chondroma (STC) is a rare benign soft tissue tumor that arises primarily in acral extra-skeletal locations. Occasionally, STCs may arise in more proximal non-acral locations, accompanied by non-classic features that label them as indeterminate lesions and pose diagnostic challenge for both radiologists and pathologists alike. Purpose To explicate the potential of diagnostic imaging in the identification and characterization of appendicular non-acral STCs with emphasis on their morphologic magnetic resonance imaging (MRI) enhancement...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28902001/guided-growth-of-the-proximal-femur-for-the-management-of-hip-dysplasia-in-children-with-cerebral-palsy
#5
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
https://www.readbyqxmd.com/read/28900835/osteitis-fibrosa-cystica-a-forgotten-radiological-feature-of-primary-hyperparathyroidism
#6
Waldemar Misiorowski, Izabela Czajka-Oraniec, Magdalena Kochman, Wojciech Zgliczyński, John P Bilezikian
Although bone disease and stone disease are the universally accepted classical manifestations of primary hyperparathyroidism, clinical parathyroid bone disease is rarely seen today in the United States (<5% of patients) and Western Europe. Nevertheless, in a given patient, classical skeletal involvement can be the first sign of primary hyperparathyroidism, but not recognized because it is not usually included, anymore, in the differential diagnosis of this manifestation of skeletal disease. We describe four cases of primary hyperparathyroidism in which the first clinical manifestation of the disease was a pathological fracture that masqueraded as a malignancy...
September 12, 2017: Endocrine
https://www.readbyqxmd.com/read/28892988/treatment-of-proximal-humerus-fractures-using-philos-plate
#7
Chintan Doshi, Gaurav Mahesh Sharma, Lokesh Gudda Naik, Krishna Sudhakar Badgire, Faisal Qureshi
INTRODUCTION: Treatment of proximal humerus fractures always holds a dilemma for the treating surgeon. AIM: To assess the functional outcome of proximal humerus fractures treated with Proximal Humerus Internal Locking System (PHILOS) plating. MATERIAL AND METHODS: Fifty three consecutive patients were treated with PHILOS plating between August 2013 and August 2014. The inclusion criteria were skeletally matured patients with closed fracture proximal humerus with displacement >1 cm and varus angulation of >45(0)...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28885088/progression-of-trunk-imbalance-in-adolescent-idiopathic-scoliosis-with-a-thoracolumbar-lumbar-curve-is-it-predictable-at-the-initial-visit
#8
Chang Ju Hwang, Choon Sung Lee, Dong-Ho Lee, Jae Hwan Cho
OBJECTIVE Progression of trunk imbalance is an important finding during follow-up of patients with adolescent idiopathic scoliosis (AIS). Nevertheless, no factors that predict progression of trunk imbalance have been identified. The purpose of this study was to identify parameters that predict progression of trunk imbalance in cases of AIS with a structural thoracolumbar/lumbar (TL/L) curve. METHODS This study included 105 patients with AIS and a structural TL/L curve who were followed up at an outpatient clinic...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28880058/acromegaly-and-bone
#9
Filippo Maffezzoni, Anna M Formenti
INTRODUCTION: Growth hormone (GH) and insulin-like growth factor-I (IGF-1) have pleiotropic effects on the skeleton throughout the lifespan by influencing bone formation and resorption. Despite these positive effects on skeletal metabolism, in presence of GH and IGF-1 excess, bone turnover increases excessively leading to deterioration of bone microarchitecture and high risk of fragility fractures, thereby impairing quality of life. EVIDENCE ACQUISITION: Coexistent hypogonadism, diabetes mellitus, hypovitaminosis D, hyperparathyroidism and over-replacement with glucocorticoids impair bone framework, however, the effects of acromegaly on bone mineral density (BMD) are still controversial and despite normalization of bone turnover after treatment, the risk for fractures remains increased...
September 7, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28858097/how-frequent-is-osteogenesis-imperfecta-in-patients-with-idiopathic-osteoporosis-case-reports
#10
Ali Al Kaissi, Christian Windpassinger, Farid Ben Chehida, Maher Ben Ghachem, Nabil M Nassib, Vladimir Kenis, Eugene Melchenko, Ekatrina Morenko, Sergey Ryabykh, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: The term idiopathic osteoporosis itself is quite a non-specific disease label, which fails to address the etiological understanding. Bone mineral density alone is not a reliable parameter to detect patients at high risk of fracture. The diversity of the clinical phenotypes of discolored teeth, blueness of the sclera, back and joint pain, cardiovascular disease, Diabetes type II, hearing problems and a long list of orthopedic problems are have to be considered. PATIENTS CONCERNS: Our study has been designed in accordance with the clinical and radiological phenotype of eleven index cases with the provisional diagnosis of OI, which was followed by genotypic confirmation...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28846950/osteochondrosis-of-the-medial-malleolar-epiphysis-a-case-report-and-review-of-the-literature
#11
Marco Turati, Yann Glard, Jacques Griffet, David Afonso, Aurélien Courvoisier, Marco Bigoni
INTRODUCTION: Osteochondrosis is characterized by a disturbance of enchondral ossification in skeletally immature patients and should be investigated in children having a history of persistent foot and ankle pain. Involvement of the medial malleolar epiphysis is rarely reported. PRESENTATION OF CASE: We describe the case of a sporty 12-year-old male with osteochondrosis of the left medial malleolar epiphysis treated with a conservative management. DISCUSSION: Calcanear, navicular and metatarsal apophysis are the most common locations for osteochondrosis in ankle and foot...
August 14, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28839486/facial-soft-tissue-thickness-of-midline-in-an-iranian-sample-mri-study
#12
Masume Johari, Farzad Esmaeili, Hadi Hamidi
BACKGROUND AND AIM: To identify human skeletal remains, different methods can be used and using these techniques, important data can be obtained. However, facial reconstruction is the last method to indentify unknown human faces which requires knowledge about facial soft tissue thickness in the different positions of the face. The present study determined the facial soft tissue thickness in the different landmark points on the MRI images of patients referred to Radiology Department of Shahid Madani Hospital...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28839352/reconstruction-of-traumatic-bone-loss-using-the-induced-membrane-technique-preliminary-results-about-11-cases
#13
Noufanangue Kanfitine Kombate, Atchi Walla, Gamal Ayouba, B Moïse Bakriga, Yaovi Yannick Dellanh, Anani Grégoire Abalo, Assang Michel Dossim
INTRODUCTION: The use of Masquelet technique is a serious option to consider for biologic reconstruction of severe bone loss. Here is exposed a continuous and prospective study on bone loss management using that technique. The aims of this study were to assess epidemiology of bone loss due either to trauma or to non-unions and to give preliminary results. PATIENTS AND METHODS: It was a prospective study from April 2015 to december 2016 involving patients treated using the induced membrane technique for a diaphyseal bone defect due either to trauma or non-unions...
December 2017: Journal of Orthopaedics
https://www.readbyqxmd.com/read/28822312/ossifying-fibromyxoid-tumor-of-the-trunk-mimicking-hydatid-cyst-a-case-report
#14
Nihed Abdessayed, Sarra Mestiri, Houssem Ammar, Ahlem Bdioui, Amine Chhaidar, Omar Toumi, Nozha Mhamdi, Rahul Gupta, Marwa Guerfela, Moncef Mokni
INTRODUCTION: Ossifying fibromyxoid tumor (OFMT) is a rare lesion that generally occurs in the soft tissues of proximal limbs, head or neck and presents as a slowly growing mass. Abdominal or trunk locations are extremely rare. PRESENTATION OF CASE: We report a case of 50-year-old man who presented with a painless, slow growing epigastric mass for 5 years. Radiologic assessment revealed a well circumscribed median subcutaneous parietal mass lesion present in front of the xiphoid process suspicious of a calcified hydatid cyst...
July 22, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28819517/dental-dermatological-and-radiographic-findings-in-a-case-of-gorlin-goltz-syndrome-report-and-review
#15
REVIEW
Kumar Nilesh, Shivsagar Tewary, Sameer Zope, Jinesh Patel, Aaditee Vande
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28811992/analysis-of-the-literature-on-cervical-spine-fractures-in-ankylosing-spinal-disorders
#16
REVIEW
Sebastian Hartmann, Anja Tschugg, Christoph Wipplinger, Claudius Thomé
STUDY DESIGN: Narrative literature review. OBJECTIVE: The numbers of low-energy cervical fractures seen in patients suffering from ankylosing spondylitis (also known as Bechterew disease) or diffuse idiopathic skeletal hyperostosis (also known as Forestier disease) have greatly increased over recent decades. These fractures tend to be particularly overlooked, leading to delayed diagnosis and secondary neurological deterioration. The aim of the present evaluation was to summarize current knowledge on cervical fractures in patients with ankylosing spinal disorders (ASDs)...
August 2017: Global Spine Journal
https://www.readbyqxmd.com/read/28802681/activated-fgfr3-promotes-bone-formation-via-accelerating-endochondral-ossification-in-mouse-model-of-distraction-osteogenesis
#17
Yusuke Osawa, Masaki Matsushita, Sachi Hasegawa, Ryusaku Esaki, Masahito Fujio, Bisei Ohkawara, Naoki Ishiguro, Kinji Ohno, Hiroshi Kitoh
Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene. Distraction osteogenesis (DO) is a treatment option for short stature in ACH in some countries. Although the patients with ACH usually show faster healing in DO, details of the newly formed bone have not been examined. We have developed a mouse model of DO and analyzed new bone regenerates of the transgenic mice with ACH (Fgfr3(ach) mice) histologically and morphologically...
August 10, 2017: Bone
https://www.readbyqxmd.com/read/28797502/giant-cell-containing-tumors-of-bone
#18
REVIEW
Zsolt Orosz, Nicholas A Athanasou
Giant cell-containing tumors of bone are characterized morphologically by the presence of numerous osteoclastic giant cells. Correlation of clinical, radiologic, and laboratory findings is required for accurate histopathologic diagnosis and treatment of a giant cell-containing tumor of bone. In differential diagnosis, it is particularly important to note the age of the patient and the skeletal location of the lesion. This article considers the range of neoplastic and nonneoplastic lesions, which histologically contain numerous osteoclastic giant cells, and focuses on several lesions that frequently enter into the differential diagnosis...
September 2017: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/28763373/comparison-of-two-radiological-methods-in-the-determination-of-skeletal-maturity-in-the-indian-pediatric-population
#19
Swapnil M Keny, Dhiraj V Sonawane, Eknath Pawar, Akash A Saraogi, Vikram Singh, Feroz Khan, Pravin P Bande, Ajay Chandanwale
To determine a more precise and reliable method between Greulich-Pyle (GP) and MacKay's (MK) method for the determination of skeletal age in an Indian pediatric population. We carried out a cross sectional study for the assessment of skeletal age on the basis of examination of hand and wrist radiographs of 106 patients (1-15 years of age) who presented with soft tissue injury to hand by the GP and the MK method. These radiographs were evaluated by a radiologist and an orthopedic surgeon independently. In girls, the mean age difference between chronological and skeletal age was 8 months by the GP method, whereas it was 17 months by MK method...
July 31, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28752246/myelopathy-associated-with-instability-consequent-to-resection-of-ossification-of-anterior-longitudinal-ligament-in-dish
#20
Man-Kyu Park, Kyoung-Tae Kim, Dae-Chul Cho, Joo-Kyung Sung
PURPOSE: The presence of prominent OALL (ossification of anterior longitudinal ligament) in the anterior cervical spine has been implicated as a cause of dysphagia. Surgical resection of the OALL is considered effective for the management of diffuse idiopathic skeletal hyperostosis (DISH)-related dysphagia. Although many reports have been published on DISH-related dysphagia, no cases of postoperative cervical instability have been reported thus far. We present a case in which the patient developed myelopathy associated with instability consequent to resection of OALL in DISH...
July 27, 2017: European Spine Journal
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