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https://www.readbyqxmd.com/read/28072620/fibrous-dysplasia-mimicking-malignancy-on-68ga-dotatate-pet-ct
#1
Georgios Z Papadakis, Corina Millo, Samira M Sadowski, Apostolos H Karantanas, Ulas Bagci, Nicholas J Patronas
Fibrous dysplasia of the bone is a developmental benign skeletal disorder characterized by replacement of normal bone and normal bone marrow with abnormal fibro-osseous tissue. We report on a case of a biopsy-proven fibrous dysplasia lesion in the left temporal bone, with intensely increased activity (SUVmax, 56.7) on Ga-DOTATATE PET/CT. The presented data indicate cell surface overexpression of somatostatin receptors by fibrous dysplastic cells and highlight the need of cautious management of Ga-DOTATATE-avid bone lesions, which could mimic malignancy especially in patients with history of neuroendocrine tumors...
January 9, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28068262/associated-aneurysmal-bone-cyst-and-cemento-osseous-dysplasia-a-case-report-and-review-of-the-literature
#2
Willian Pecin Jacomacci, João Paulo Veloso Perdigão, Vanessa Cristina Veltrini, Gustavo Jacobucci Farah, Elen Souza Tolentino, Lilian Cristina Vessoni Iwaki, Liogi Iwaki Filho
The purpose of this case report is to describe a previously unpublished association between focal cemento-osseous dysplasia (FCOD) and an aneurysmal bone cyst (ABC) and review the literature with regard to associated benign fibro-osseous lesions and cysts. A 41-year-old woman without a history of trauma presented with asymptomatic swelling in the right side of the mandible. Radiographs of the region revealed a unilocular radiolucent area with radiopaque foci. After aspiration of the lesion was positive for serosanguineous fluid, complete excision of the lesion was performed...
January 2017: General Dentistry
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#3
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
January 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28057011/functional-and-radiological-outcomes-of-a-minimally-invasive-surgical-approach-to-monostotic-fibrous-dysplasia
#4
Mamer S Rosario, Katsuhiro Hayashi, Norio Yamamoto, Akihiko Takeuchi, Shinji Miwa, Yuta Taniguchi, Hiroyuki Tsuchiya
BACKGROUND: Reports showing high recurrence rates for intralesional curettage and bone grafting have made the current treatment principle for fibrous dysplasia controversial. This study aimed to report the postoperative clinical outcomes from three minimally invasive surgical strategies we use for monostotic fibrous dysplasia (MFD). PATIENTS AND METHODS: Twelve patients with MFD presenting with no pathologic fracture or deformity and treated with one of three surgical strategies-plain open biopsy, plain alpha-tricalcium phosphate (ATP) reconstruction, and prophylactic bridge plating-were included...
January 5, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#5
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28053253/minimally-invasive-periacetabular-osteotomy-using-a-modified-smith-petersen-approach-technique-and-early-outcomes
#6
O H Khan, A Malviya, P Subramanian, D Agolley, J D Witt
AIMS: Periacetabular osteotomy is an effective way of treating symptomatic hip dysplasia. We describe a new minimally invasive technique using a modification of the Smith-Peterson approach. We performed a prospective, longitudinal cohort study to assess for any compromise in acetabular correction when using this approach, and to see if the procedure would have a higher complication rate than that quoted in the literature for other approaches. We also assessed for any improvement in functional outcome...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#7
H S Bae, W J Yoon, Y D Cho, R Islam, H R Shin, B S Kim, J M Lim, M S Seo, S A Cho, K Y Choi, S H Baek, H G Kim, K M Woo, J H Baek, Y S Lee, H M Ryoo
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis. CCD patients suffer from the developmental defects in cranial bones. Despite numerous investigations and clinical approaches, no therapeutic strategy has been suggested to prevent CCD. Here, we show that fetal administration of Entinostat/MS-275, a class I histone deacetylase (HDAC)-specific inhibitor, partially prevents delayed closure of cranial sutures in Runx2(+/-) mice strain of C57BL/6J by two mechanisms: (1) post-translational acetylation of Runx2 protein, which stabilized the protein and activated its transcriptional activity; and (2) epigenetic regulation of Runx2 and other bone marker genes...
January 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28050548/monostotic-fibrous-dysplasia-of-the-metacarpal-a-case-report
#8
Kátia Tôrres Batista, Hugo José de Araújo, Ulises Prieto Y Schwartzman
Fibrous dysplasia is a bone disease characterized by abnormal differentiation of fibrous tissue in the bones; it is often asymptomatic. It may affect one bone (monostotic) or several bones (polyostotic). The monostotic form primarily affects the ribs, but hardly ever affects the hand. It is important to make the differential diagnosis with malignant bone tumors. This article describes the treatment and outcome of a rare case of a patient admitted with a history of tumor growth in the right hand, diagnosed as fibrous dysplasia of the right second metacarpal...
November 2016: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28050513/an-atypical-presentation-of-multiple-central-osteomas-mimicking-craniofacial-fibrous-dysplasia-a-pictorial-essay
#9
Rashmi Kewal Agarwal, Amit A Mhapuskar, Manjula Hebbale, Meenal Tepan, Ayushee
Osteoma is benign neoplasm with slow growth characterized by deposition of compact lamellar cortical or cancellous bone creating a tumour mass. It is still unclear whether osteomas are benign neoplasms or hamartomas. They have typical clinical presentations and are easily diagnosed with the help of radiographs. We present a rare case of non-syndromic multiple osteomas in the craniofacial region which are typically restricted to the midline and presents radiographically as craniofacial fibrous dysplasia causing a diagnostic dilemma...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28042220/internal-carotid-artery-fibromuscular-dysplasia-in-a-child-incidental-postmortem-finding-after-head-injury
#10
Arulselvi Subramanian, Garima Aggarwal, Deepak Agarwal, Sanjeev Lalwani
Fibromuscular dysplasia (FMD) is a rare, segmental, nonatheromatous, and noninflammatory arterial disease of unknown etiology. It predominantly involves renal artery (60-75%) followed by extracranial part of the internal carotid artery and vertebral arteries (25-30%). The disease typically affects middle-aged women and involves intermediate-sized arteries throughout the body. There are rare case reports of extracranial FMD compounding a trauma case. A patient was brought to trauma center emergency with a history of fall from height...
January 2017: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/28042118/post-operative-neuropathy-after-total-hip-arthroplasty
#11
E P Su
Nerve palsy is a well-described complication following total hip arthroplasty, but is highly distressing and disabling. A nerve palsy may cause difficulty with the post-operative rehabilitation, and overall mobility of the patient. Nerve palsy may result from compression and tension to the affected nerve(s) during the course of the operation via surgical manipulation and retractor placement, tension from limb lengthening or compression from post-operative hematoma. In the literature, hip dysplasia, lengthening of the leg, the use of an uncemented femoral component, and female gender are associated with a greater risk of nerve palsy...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28040117/skeletal-dysplasia-with-bowing-long-bones-proposed-flowchart-for-prenatal-diagnosis-with-case-demonstration
#12
Gabriele Tonni, Marcella Palmisano, Mario Lituania, Gianpaolo Grisolia, Ave Maria Baffico, Maria Paola Bonasoni, Pierpaolo Pattacini, Claudio De Felice, Edward Araujo Júnior
OBJECTIVE: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. MATERIALS AND METHODS: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. RESULTS: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28035304/fibrous-dysplasia-of-the-maxilla-in-an-elderly-female-case-report-on-a-14-year-quiescent-phase
#13
Byung-Do Lee, Wan Lee, Yong-Chan Park, Myoung-Hyoun Kim, Moon-Ki Choi, Jung-Hoon Yoon
Fibrous dysplasia (FD) is an uncommon skeletal disorder in which normal bone is replaced by abnormal fibro-osseous tissue. Mainly, FD is found in children, and by adulthood it usually becomes quiescent. Our case showed FD of more than 14-year duration in the left maxilla. Our evaluation was that growth ceased in adulthood and had achieved the static stage. Because FD cases in elderly patients are rarely reported, we hereby present a monostotic FD case in a 65-year-old female. We presented sequential radiographic images and scintigraphic images of this case, and combined them with a literature review that emphasized the progression of the disease...
December 2016: Imaging Science in Dentistry
https://www.readbyqxmd.com/read/28032038/recurrent-missense-mutation-of-gdf5-p-r438l-causes-proximal-symphalangism-in-a-british-family
#14
Andreas Leonidou, Melita Irving, Simon Holden, Marcos Katchburian
Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands, typically of the ring and little finger, with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies have identified two possible genetic aetiologies for this syndrome, NOG and GDF5. We herein present a British caucasian family with SYM1B caused by a mutation of the GDF5 gene...
December 18, 2016: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28031510/use-of-a-magnetic-bone-nail-for-lengthening-of-the-femur-and-tibia
#15
Ozgur Karakoyun, Sami Sokucu, Mehmet Fatih Erol, Metin Kucukkaya, Yavuz Selim Kabukçuoğlu
PURPOSE: To report our experience with the PRECICE nail for limb lengthening in 23 patients. METHODS: Records of 15 female and 8 male patients aged 14 to 38 (mean, 23.6) years who underwent lengthening of the tibia (n=6) or femur (n=21) using the PRECICE nail were reviewed. The reasons for lengthening included trauma (n=7), hemihypertrophy (n=2), focal femoral deficiency (n=2), Ellis-van Creveld syndrome (n=1), hip septic arthritis sequelae (n=1), hereditary multiple exostosis (n=1), club foot sequela (n=1), congenital tibial pseudoarthrosis (n=1), fibrous dysplasia (n=1), idiopathic limb length discrepancy (n=7), and cosmetic (n=1)...
December 2016: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28028303/dismal-outcome-of-therapy-related-myeloid-neoplasm-associated-with-complex-aberrant-karyotypes-and-monosomal-karyotype-a-case-report
#16
Y L Tang, W K Chia, E C S W Yap, M I Julia, C F Leong, S Salwati, C L Wong
INTRODUCTION: Individuals who are exposed to cytotoxic agents are at risk of developing therapyrelated myeloid neoplasms (t-MN). Cytogenetic findings of a neoplasm play an important role in stratifying patients into different risk groups and thus predict the response to treatment and overall survival. CASE REPORT: A 59-year-old man was diagnosed with acute promyelocytic leukaemia. Following this, he underwent all-trans retinoic acid (ATRA) based chemotherapy and achieved remission...
December 2016: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28027552/state-of-erythroid-granulocyte-and-platelet-branches-of-hematopoiesis-on-stages-of-chemotherapy-in-children-with-acute-lymphoblastic-leukemia-who-were-exposed-to-ionizing-radiation-after-the-chornobyl-npp-accident
#17
V G Bebeshko, K M Bruslova, T I Pushkareva, N M Tsvyetkova, L O Lyashenko, O Ye Kuznyetsova, V F Kuzmenko, L O Gonchar, S M Yaatsemyrskyy
OBJECTIVE: Evaluation of proliferation and differentiation processes of progenitor cells in bone marrow by the com position of elements of erythroid, granulocyte and platelet branches of hematopoiesis on the treatment stages in children with acute lymphoblastic leukemia (ALL), who were exposed to radiation from the Chornobyl NPP accident. MATERIALS AND METHODS: The 46 children with ALL were studied, who lived in Kyiv, Zhytomyr and Chernihiv regions. Studies were conducted before the start of chemotherapy (ChT), on the 33 day of ChT (phase I), and after the com pletion of ChT (phase II)...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28007843/clinical-characteristics-and-management-of-growth-hormone-excess-in-patients-with-mccune-albright-syndrome
#18
Yong Yao, Yang Liu, Lin Jie Wang, Kan Deng, Hongbo Yang, Lin Lu, Feng Feng, Bing Xing, Hui You, Zimeng Jin, Renzhi Wang, Hui Pan, Shi Chen, Hui Juan Zhu
OBJECTIVE: McCune-Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS, and analyze the responses of these patients to treatments. DESIGN: Retrospective clinical study. METHODS: Clinical data from 52 MAS patients were analyzed...
December 22, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28005795/orbitocranial-fibrous-dysplasia-outcome-of-radical-resection-and-immediate-reconstruction-with-titanium-mesh-and-pericranial-flap
#19
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28005783/florid-cemento-osseous-dysplasia-simultaneous-the-chronic-suppurative-osteomyelitis-in-mandible
#20
Mateus Barros Cavalcante, Amanda Laísa de Oliveira Lima, Marcus Antônio Brêda Júnior, Milkle Bruno Pessoa Santos
INTRODUCTION: The florid cemento-osseous dysplasia is an uncommon condition nonneoplastic, of unknown cause with higher prevalence in melanodermic women, limited the maxillary bones, is characterized by the presence of dispersed and diffuse radiopaque calcifications, constituted of bone and dense cemento; however, when the bone is infected it induces the suppuration and formation of osseous sequestra, thus resulting in an osteomyelitis frame. CLINICAL REPORT: The patient was attended in a Dental Specialties Center in the state of Alagoas, Brazil, presenting on clinical examination edema and extra oral fistula with pus drainage in hemiface submandibular of the right side...
November 2016: Journal of Craniofacial Surgery
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