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https://www.readbyqxmd.com/read/28214971/complete-occipitalization-of-the-atlas-with-bilateral-external-auditory-canal-atresia
#1
Janez Dolenšek, Erika Cvetko, Žiga Snoj, Marija Meznaric
Fusion of the atlas with the occipital bone is a rare congenital dysplasia known as occipitalization of the atlas, occipitocervical synostosis, assimilation of the atlas, or atlanto-occipital fusion. It is a component of the paraxial mesodermal maldevelopment and commonly associated with other dysplasias of the craniovertebral junction. External auditory canal atresia or external aural atresia is a rare congenital absence of the external auditory canal. It occurs as the consequence of the maldevelopment of the first pharyngeal cleft due to defects of cranial neural crest cells migration and/or differentiation...
February 18, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28211081/h3f3a-mutation-in-giant-cell-tumour-of-the-bone-is-detected-by-immunohistochemistry-using-a-monoclonal-antibody-against-the-g34w-mutated-site-of-the-histone-h3-3-variant
#2
Julian Lüke, Alexandra von Baer, Jordan Schreiber, Christoph Lübbehüsen, Thomas Breining, Kevin Mellert, Ralf Marienfeld, Markus Schultheiss, Peter Möller, Thomas Fe Barth
AIMS: Giant cell tumour of bone (GCTB) is a neoplasm predominantly of long bones characterised by the H3F3A mutation G34W. Conventional diagnostic is challenged by the tumour's giant cell-rich morphology, which overlaps with other giant cell containing lesions of the bone. Recently, a monoclonal antibody specific for the H3F3A mutation has been generated. Our aim was to test this antibody on a cohort of giant cell containing lesions. METHODS AND RESULTS: We used the antibody for analysis of 22 H3F3A-mutated GCTB, including two patients with recurrences; for comparison we analysed a cohort of 36 H3F3A-wild-type giant cell-rich lesions of the bone and soft tissue, containing one brown tumour, six aneurysmal bone cysts, six chondroblastomas, five non-ossifying-fibromas, two fibrous dysplasias, nine tenosynovial giant cell tumours, one giant cell-rich sarcoma and six osteosarcomas...
February 17, 2017: Histopathology
https://www.readbyqxmd.com/read/28208959/secondary-aneurysmal-bone-cyst-of-the-scapula-treated-by-ct-guided-percutaneous-polidocanol-injection-a-case-report
#3
Rahul Mohan, Gopakumar Thanuvan Sreekumaran
Aneurysmal Bone Cyst (ABC) is a rare benign tumour, usually affecting early age group and at the metaphysis of long bones. Scapular ABC's are even more rare, especially successfully treated cases. Standard treatment methods like curettage have high recurrence rates hence, adjuvant therapy may be required to avoid recurrence. Polidocanol sclerotherapy is becoming popular because of its safety and efficacy and is being tried successfully for both active as well as aggressive primary ABC of size 3-5cm. We used the same principle in a large secondary ABC of the scapula, which to the best of our knowledge has not been yet reported...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208056/oral-rehabilitation-of-a-patient-with-ectodermal-dysplasia-treated-with-fresh-frozen-bone-allografts-and-computer-guided-implant-placement-a-clinical-case-report
#4
Carlo Maiorana, Pier Paolo Poli, Carlo Poggio, Paola Barbieri, Mario Beretta
Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent...
January 20, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28207472/intradiploic-epithelial-inclusion-cyst-of-the-cranium-mimicking-fibrous-dysplasia
#5
Max Mandelbaum, Jerry W Chao, Gary F Rogers, Cheng-Ying Ho, Suresh N Magge
Intradiploic inclusion cysts are exceedingly rare in the pediatric population. The authors present a 16-year-old male patient who presented with a large growing calvarial mass with a preoperative diagnosis of fibrous dysplasia based on radiologic imaging. Craniectomy followed by autogenous reconstruction was performed. Histopathological examination revealed a relatively small inclusion cyst of the intradiploic space, surrounded by reactive bone. This patient demonstrates a highly unusual presentation of a rare entity, and the authors discuss the diagnosis and management of intradiploic inclusion cysts...
February 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28205462/atypical-chronic-myeloid-leukemia-in-a-german-shepherd-dog
#6
Christina L Marino, Jimmy N S N Tran, Tracy Stokol
A 4-y-old neutered male German Shepherd Dog was presented with a 3-d duration of lethargy, restlessness, and vomiting. Physical examination revealed generalized lymphadenopathy, pale mucous membranes, systolic heart murmur, dehydration, and fever. Hematologic abnormalities included moderate-to-marked leukocytosis, characterized by neutrophilia with a left shift to progranulocytes and 2% presumptive myeloid blasts, marked anemia that was nonregenerative, and marked thrombocytopenia. Dysplasia was evident in neutrophils and platelets...
February 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28194495/florid-cemento-osseous-dysplasia-review-of-an-uncommon-fibro-osseous-lesion-of-the-jaw-with-important-clinical-implications
#7
REVIEW
Sarah Fenerty, Wei Shaw, Rahul Verma, Ali B Syed, Riya Kuklani, Jie Yang, Sayed Ali
Florid cemento-osseous dysplasia (FCOD) is a rare, benign, multifocal fibro-osseous dysplastic process affecting tooth-bearing areas of the jaw, characterized by replacement of normal trabecular bone with osseous tissue and dense acellular cementum in a fibrous stroma. It is one clinicopathologic variant in a spectrum of related non-neoplastic fibro-osseous lesions known as cemento-osseous dysplasias (CODs), thought to arise from elements of the periodontal ligament. Diagnosis primarily relies upon radiographic and clinical findings; unnecessary biopsy should be avoided, as inoculation with oral pathogens may precipitate chronic infection in these hypovascular lesions...
February 13, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28194386/femur-lengthening-with-monoplanar-external-fixator-associated-with-locked-intramedullary-nail
#8
Henrique Paradella Alvachian Fernandes, Danilo Gabriel do Nascimento Silva Barronovo, Fabio Lucas Rodrigues, Marcos Hono
OBJECTIVE: This study aimed to demonstrate that the lengthening technique of an external fixator associated with locked intramedullary nail is an efficient method that decreases the duration of the external fixation and improves the rehabilitation period. METHODS: From January of 2005 to May of 2014, 31 patients with mean lower limb discrepancy of 5.31 cm were treated. The etiologies of the deformity were femur fracture sequelae, infection, hip development dysplasia, polio, and congenital short femur...
January 2017: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/28188970/refractory-anemia-with-ring-sideroblasts-rars-and-rars-with-thrombocytosis-rars-t-2017-update-on-diagnosis-risk-stratification-and-management
#9
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
March 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28188365/quantitative-anatomy-of-the-growing-clavicle-in-the-human-fetus-ct-digital-image-analysis-and-statistical-study
#10
Marcin Wiśniewski, Mariusz Baumgart, Magdalena Grzonkowska, Bogdan Małkowski, Piotr Flisiński, Małgorzata Dombek, Michał Szpinda
PURPOSES: Knowledge of dimensions of fetal long bones is useful in both the assessment of fetal growth and early detection of inherited defects. Measurements of the fetal clavicle may facilitate detection of numerous defects, e.g., cleidocranial dysplasia, Holt-Oram syndrome, Goltz syndrome, and Melnick-Needles syndrome. METHODS: Using the methods of CT, digital image analysis, and statistics, the size of the growing clavicle in 42 spontaneously aborted human fetuses (21 males and 21 females) at ages of 18-30 weeks was studied...
February 10, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#11
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28183050/deep-peroneal-nerve-palsy-due-to-osteochondroma-arising-from-fibular-head-and-proximal-lateral-tibia
#12
Murat Demiroğlu, Korhan Özkan, Bulent Kılıç, Akif Akçal, Mesut Akkaya, Feyza Ünlü Özkan
Following median and ulnar nerves, peroneal nerve entrapment is the most frequent nerve involvement in the body Katirji and Wilbourn (1998) [1]. Osteochondromas are the most common benign bone tumors comprising 9% of all bone tumors and 35% of benign bone tumors Porter (2000) [2]. Hereditary exostoses (HME) is an autosomal dominant disorder with variable penetrance characterized by multiple osteochondromas near joints. It is one of the most commonskeletal dysplasias with a frequency of about 1.18%. In this study, we aimed to present a case with a drop foot resulting from osteochondromas of proximal tibia and fibula and help to guide the clinicians in differential diagnosis according to SCARE criteria Agha (2016) [3]...
January 24, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28182776/prospects-and-limitations-of-improving-skeletal-growth-in-a-mouse-model-of-spondyloepiphyseal-dysplasia-caused-by-r992c-p-r1192c-substitution-in-collagen-ii
#13
Machiko Arita, Jolanta Fertala, Cheryl Hou, James Kostas, Andrzej Steplewski, Andrzej Fertala
Skeletal dysplasias form a group of skeletal disorders caused by mutations in macromolecules of cartilage and bone. The severity of skeletal dysplasias ranges from precocious arthropathy to perinatal lethality. Although the pathomechanisms of these disorders are generally well defined, the feasibility of repairing established aberrant skeletal tissues that developed in the presence of mutant molecules is currently unknown. Here, we employed a validated mouse model of spondyloepiphyseal dysplasia (SED) that enables temporal control of the production of the R992C (p...
2017: PloS One
https://www.readbyqxmd.com/read/28177159/connexin43-mutant-patient-derived-induced-pluripotent-stem-cells-exhibit-altered-differentiation-potential
#14
Jessica L Esseltine, Qing Shao, Courtney Brooks, Jacinda Sampson, Dean H Betts, Cheryle Séguin, Dale W Laird
We present for the first time the generation of induced pluripotent stem cells (iPSCs) from a patient with a connexin-linked disease. The importance of gap junctional intercellular communication in bone homeostasis is exemplified by the autosomal dominant developmental disorder oculodentodigital dysplasia (ODDD) which is linked to mutations in the GJA1 (Cx43) gene. ODDD is characterised by craniofacial malformations, ophthalmic deficits, enamel hypoplasia and syndactyly. In addition to harboring a Cx43 p.V216L mutation, ODDD iPSCs exhibit reduced Cx43 mRNA and protein abundance when compared to control iPSCs and display impaired channel function...
February 8, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28176803/three-novel-ano5-missense-mutations-in-caucasian-and-chinese-families-and-sporadic-cases-with-gnathodiaphyseal-dysplasia
#15
Lingling Jin, Yi Liu, Fanyue Sun, Michael T Collins, Keith Blackwell, Albert S Woo, Ernst J Reichenberger, Ying Hu
Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28169352/metacarpal-bone-plane-examination-by-ultrasonography-for-the-diagnosis-of-fetal-forearm-and-hand-deformity
#16
Leiping Zhou, Mingli Lv, Min Zeng, Yun Zhou, Tian Yang, Yu Yang, Yunyun Cao, Xiaoxiao Kong, Jianmei Niu
We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity &Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women...
February 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28166224/mesoderm-specific-stat3-deletion-affects-expression-of-sox9-yielding-sox9-dependent-phenotypes
#17
Michael D Hall, Caroline A Murray, Michael J Valdez, Alan O Perantoni
To date, mutations within the coding region and translocations around the SOX9 gene both constitute the majority of genetic lesions underpinning human campomelic dysplasia (CD). While pathological coding-region mutations typically result in a non-functional SOX9 protein, little is known about what mechanism(s) controls normal SOX9 expression, and subsequently, which signaling pathways may be interrupted by alterations occurring around the SOX9 gene. Here, we report the identification of Stat3 as a key modulator of Sox9 expression in nascent cartilage and developing chondrocytes...
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28164571/establishment-of-a-novel-myelodysplastic-syndrome-mds-xenotransplantation-model
#18
Ling Ma, Xia Zhang, Zhiqiong Wang, Yan Chen, Jia Wei, Lihua Hu
BACKGROUND: Myelodysplastic syndrome (MDS) is a clonal disease of the elderly characterized by chronic cytopenia, dysplasia, and a high risk of progression to acute myeloid leukemia (AML). Up until now, few animal models that fully recapitulate clinical features of this disease have been available. METHODS: This study aimed to establish a new MDS xenograft model utilizing a human MDS-derived cell line with heterozygous Y641C mutation of EZH2 (SKM-1). 1 x 107 SKM-1 cells were inoculated into anti-mouse CD122 monoantibody conditioned nonobese diabetic severe combined immunodeficiency (NOD/SCID) mice by intravenous injection...
September 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28162941/stem-cells-and-bronchopulmonary-dysplasia-the-five-questions-which-cells-when-in-which-dose-to-which-patients-via-which-route
#19
REVIEW
Martin Mueller, Boris W Kramer
Preterm birth is the leading cause of death in newborns and children. Despite advances in perinatology, immature infants continue to face serious risks such chronic respiratory impairment from bronchopulmonary dysplasia (BPD). Current treatment options are insufficient and novel approaches are desperately needed. In recent years stem cells have emerged as potential candidates to treat BPD with mesenchymal stem/stromal cells (MSCs) being particularly promising. MSCs originate from several stem cell niches including bone marrow, skin, or adipose, umbilical cord, and placental tissues...
December 24, 2016: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/28144583/novel-case-of-trevor-s-disease-adult-onset-and-later-recurrence
#20
Amrit S Khalsa, Neil S Kumar, Matthew A Chin, Richard D Lackman
Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is an osteocartilaginous epiphyseal overgrowth typically occurring in children. The literature reports 6 adult cases and none describe recurrence requiring additional procedures. We present a new-onset proximal tibial DEH in an adult recurring approximately 3 years after open excision. A 39-year-old female presented with a history of right knee pain, swelling, and instability. Physical examination revealed a firm proximal tibial mass. Computed tomography (CT) imaging showed an exophytic, lobulated, sclerotic mass involving the anterolateral margin of the lateral tibial plateau...
January 18, 2017: World Journal of Orthopedics
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