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https://www.readbyqxmd.com/read/29346169/sphenoid-dysplasia-a-rare-presentation-of-infantile-myofibroma
#1
Ashwini Kini, Reema Syed, Christopher Compton, Jessica L Hata, Aparna Ramasubramanian
The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone...
January 17, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29345176/bone-marrow-vegfc-expression-is-associated-with-multilineage-dysplasia-and-several-prognostic-markers-in-adult-acute-myeloid-leukemia-but-not-with-survival
#2
Vicent Guillem, Marisa Calabuig, Salut Brunet, Jordi Esteve, Lourdes Escoda, David Gallardo, Josep-Maria Ribera, María Paz Queipo de Llano, Montserrat Arnan, Carme Pedro, María Luz Amigo, Josep M Martí-Tutusaus, Antoni García-Guiñón, Joan Bargay, Antonia Sampol, Olga Salamero, Llorenç Font, Carme Talarn, Montserrat Hoyos, Marina Díaz-Beyá, Ana Garrido, Blanca Navarro, Josep Nomdédeu, Jordi Sierra, Mar Tormo
Vascular endothelial growth factor C (VEGFC) stimulates leukemia cell proliferation and survival, and promotes angiogenesis. We studied VEGFC expression in bone marrow samples from 353 adult acute myeloid leukemia (AML) patients and its relationship with several clinical, cytogenetic, and molecular variables. We also studied the expression of 84 genes involved in VEGF signaling in 24 patients. We found that VEGFC expression was higher in AML patients with myelodysplasia-related changes (AML-MRC) than in patients with non-AML-MRC...
January 18, 2018: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#3
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341424/fetal-ultrasonographic-findings-including-cerebral-hyperechogenicity-in-a-patient-with-non-lethal-form-of-raine-syndrome
#4
Kei Tamai, Katsuhiko Tada, Akihito Takeuchi, Makoto Nakamura, Hidenori Marunaka, Yosuke Washio, Hiroyuki Tanaka, Fuyuki Miya, Nobuhiko Okamoto, Misao Kageyama
Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non-lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of FAM20C was identified...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29337715/labyrinthine-sequestrum-a-case-report-and-review-of-the-literature
#5
Julie B Guerin, Diana L Vork, Lourdes Eguiguren, Alexander P Marston, Colin L W Driscoll, Matthew L Carlson, Nancy K Henry, John I Lane
OBJECTIVE: To report the presentation, diagnosis, management, and convalescence of labyrinthine sequestrum (LS) and summarize all previously published cases. PATIENT(S): Eleven-year-old female with LS. INTERVENTION(S): Multidisciplinary diagnostic evaluation and treatment. MAIN OUTCOME MEASURES: Imaging and laboratory findings, medical and surgical treatment. RESULTS: We describe a case of LS secondary to medically recalcitrant suppurative otitis media in an 11-year-old female and review all eight previously reported cases...
January 15, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29336932/orthognathic-surgery-in-melnick-needles-syndrome-a-review-of-the-literature-and-report-of-two-siblings
#6
REVIEW
J E O'Connell, B Bourke, G J Kearns
Melnick-Needles syndrome (MNS) is a rare congenital X-linked dominant skeletal dysplasia, characterized by exophthalmos, a prominent forehead, and mandibular hypoplasia and retrognathism. Dental features may include anodontia, hypodontia, or oligodontia. Increased collagen content, unpredictable collagen synthesis, and abnormal bony architecture have raised concerns regarding bone splitting intraoperatively and bone healing postoperatively. This report describes the cases of two sisters with MNS, who successfully underwent orthognathic surgery consisting of bilateral mandibular ramus osteotomies combined with advancement genioplasty and iliac crest bone grafting, to correct the classical MNS facial deformity of mandibular retrognathia...
January 11, 2018: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29335001/different-clinical-presentation-and-management-of-temporal-bone-fibrous-dysplasia-in-children
#7
REVIEW
Józef Mierzwiński, Justyna Kosowska, Justyna Tyra, Karolina Haber, Maria Drela, Dariusz Paczkowski, Paweł Burduk
BACKGROUND: Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most cases. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Temporal bone involvement is the least frequently reported type, especially in children. We reviewed available articles regarding fibrous dysplasia with temporal bone involvement in children and added four patients aged 7 to 17 years who were diagnosed and treated in our institution from 2006 to 2017...
January 15, 2018: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29334565/reversal-of-intestinal-failure-in-children-with-tufting-enteropathy-supported-with-parenteral-nutrition-at-home
#8
Iona Ashworth, Alexander Wilson, Samuel Aquilina, Raymond Parascandalo, Victor Mercieca, Jurgen Gerada, Sarah Macdonald, Venetia Simchowitz, Susan Hill
OBJECTIVES: To review long-term outcome of Intestinal Epithelial Dysplasia(IED)/tufting enteropathy(TE) patients treated with parenteral nutrition(PN) at home managed by an intestinal failure(IF) rehabilitation service METHODS:: Infants presenting from 1986-2010 with IF, and TE histology were retrospectively reviewed for up to 30 years. Data collected included: outcome, presentation, nutrition(parenteral/enteral), country of residence, race, EpCAM gene, growth, bone age, occupation. RESULTS: 13 patients (6 male) in Malta and the UK with TE histology were established on home PN...
January 13, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#9
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29326119/association-of-mutations-with-morphologic-dysplasia-in-de-novo-acute-myeloid-leukemia-without-2016-who-classification-defined-cytogenetic-abnormalities
#10
Olga K Weinberg, Christopher J Gibson, Traci M Blonquist, Donna Neuberg, Olga Pozdnyakova, Frank Kuo, Benjamin L Ebert, Robert P Hasserjian
Despite improvements in our understanding of the molecular basis of acute myeloid leukemia, the association between genetic mutations with morphologic dysplasia remains unclear. In this study, we evaluated and scored dysplasia in bone marrow specimens from 168 patients with de novo acute myeloid leukemia; none of these patients had 2016 WHO Classification-defined cytogenetic abnormalities. We then performed targeted sequencing of diagnostic bone marrow aspirates for recurrent mutations associated with myeloid malignancies...
January 11, 2018: Haematologica
https://www.readbyqxmd.com/read/29299764/longitudinal-morphological-change-of-acetabular-subchondral-bone-cyst-after-total-hip-arthroplasty-in-developmental-dysplasia-of-the-hip
#11
Ryohei Takada, Tetsuya Jinno, Kazumasa Miyatake, Yuki Yamauchi, Daisuke Koga, Kazuyoshi Yagishita, Atsushi Okawa
PURPOSE: The purpose of this study is to clarify morphological changes of acetabular subchondral bone cyst after total hip arthroplasty for osteoarthritis secondary to developmental dysplasia of the hip. METHODS: Two hundred and sixty-one primary cementless total hip arthroplasties of 208 patients, 18 males, 190 females, were retrospectively reviewed. Morphological changes of subchondral bone cyst were evaluated by computed tomography (CT). The mean cross-sectional area of the cyst from CT scans at 3 months postoperatively and after 7-10 years (average 8...
January 3, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/29299192/an-atypical-case-of-craniometaphyseal-dysplasia-case-report-and-surgical-treatment
#12
Giorgio Novelli, Emanuela Ardito, Fabio Mazzoleni, Alberto Bozzetti, Davide Sozzi
Introduction: Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. Case report: We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity...
April 2017: Annali di Stomatologia
https://www.readbyqxmd.com/read/29295788/clinical-significance-of-increased-serum-levels-of-fgf-23-in-fibrous-dysplasia
#13
Helena Florez, Stanislava Mandelikova, Xavier Filella, Ana Monegal, Núria Guañabens, Pilar Peris
INTRODUCTION AND OBJECTIVE: Fibrous dysplasia (FD) can be associated with the development of hypophosphatemic osteomalacia, caused by the production of FGF-23 by dysplastic bone tissue. This study analysed FGF-23 levels in patients with FD, and their association with disease activity and serum phosphate values. PATIENTS AND METHODS: Twelve adult patients with FD were included in the study. Clinical history, disease extension and activity and treatments received were reviewed, and the relationship of those values with FGF-23 and serum P levels was analysed...
December 30, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/29287953/is-the-transverse-acetabular-ligament-hypertrophied-and-hindering-reduction-in-developmental-dysplasia-of-hip
#14
Soon Hyuck Lee, Woo Young Jang, Gi Won Choi, Young Keun Lee, Hae Woon Jung
PURPOSE: To investigate the arthroscopic pathoanatomy of the transverse acetabular ligament (TAL) and determine whether a TAL incision is necessary for the concentric reduction of developmental dysplasia of the hip (DDH) in infants and young children. METHODS: We retrospectively reviewed patients who underwent arthroscopic-assisted reduction for DDH between July 2008 and April 2016. The indications for this intervention included patients in whom closed reduction failed and those who did not require bone operations...
December 26, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/29285334/bisphosphonates-therapy-in-children-with-osteogenesis-imperfecta-clinical-experience-in-oral-surgery
#15
G Ierardo, M Bossù, G D'Angeli, M Celli, G Sfasciotti
Objectives: To define the possible complications of oral surgery in childhood in patients affected by type 1 Osteogenesis imperfecta (OI) and treated with bisphosphonates (BP). Methods: The study was conducted among 20 patients in childhood with an age range 8-14 (12 ♂ e 8 ♀) affected by OI. Patients were initially evaluated at the Policlinico Umberto I, University Hospital of Rome, Rare Disease Center Skeletal Dysplasia-Bone Metabolic Pathologies and after at the Policlinico Umberto I, University Hospital of Rome, Head and Neck Department, UOC Pediatric Dentistry...
July 2017: Oral & Implantology
https://www.readbyqxmd.com/read/29285073/the-significance-of-magnetic-resonance-imaging-in-severe-femoral-trochlear-dysplasia-assessment
#16
Ji Shen, Le Qin, Wei-Wu Yao, Mei Li
The clinical diagnosis of femoral trochlear dysplasia primarily relies on imaging. In the past, plain imaging was the major source of diagnosis. The present study investigated the application of magnetic resonance imaging (MRI) in the objective assessment of severe femoral trochlear dysplasia. A retrospective analysis was performed on knee MRIs from 30 normal subjects (30 knees) and 59 patients (61 knees) with severe femoral trochlear dysplasia based on the Dejour morphological classification. Cartilage and subchondral bone landmarks were used to compare a series of measurements between patient and control groups...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29284472/differentiating-early-stage-florid-osseous-dysplasia-from-periapical-endodontic-lesions-a-radiological-based-diagnostic-algorithm
#17
Victor Daviet-Noual, Anne-Laure Ejeil, Charles Gossiome, Nathan Moreau, Benjamin Salmon
BACKGROUND: Osseous dysplasia (OD) is the most common fibro-osseous lesion of the jaw affecting the periapical region. Early stages of OD can resemble periapical radiolucencies, thus mimicking the radiological aspects of an endodontic pathology. Such radiolucent lesions affecting previously decayed or treated teeth are even more complex to interpret. CASE PRESENTATION: The aim of this paper is to report a case-series of representative clinical situations describing the radiological features and illustrating the diagnostic workup of patients with florid osseous dysplasia (FOD)...
December 28, 2017: BMC Oral Health
https://www.readbyqxmd.com/read/29282319/expression-of-an-active-g%C3%AE-s-mutant-in-skeletal-stem-cells-is-sufficient-and-necessary-for-fibrous-dysplasia-initiation-and-maintenance
#18
Xuefeng Zhao, Peng Deng, Ramiro Iglesias-Bartolome, Panomwat Amornphimoltham, Dana J Steffen, Yunyun Jin, Alfredo A Molinolo, Luis Fernandez de Castro, Diana Ovejero, Quan Yuan, Qianming Chen, Xianglong Han, Ding Bai, Susan S Taylor, Yingzi Yang, Michael T Collins, J Silvio Gutkind
Fibrous dysplasia (FD) is a disease caused by postzygotic activating mutations of GNAS (R201C and R201H) that encode the α-subunit of the Gs stimulatory protein. FD is characterized by the development of areas of abnormal fibroosseous tissue in the bones, resulting in skeletal deformities, fractures, and pain. Despite the well-defined genetic alterations underlying FD, whether GNAS activation is sufficient for FD initiation and the molecular and cellular consequences of GNAS mutations remains largely unresolved, and there are no currently available targeted therapeutic options for FD...
December 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29279436/-asbmr-topics-from-clinical-to-translational-research
#19
Keiichi Ozono
Aging and senescence are main topics in this ASBMR Annual Meeting as both the Aurbach lecture and Avioli award lecture focused on the topic. Osteoporosis is one of typical age-related disease and elimination of senescent cells is new strategy of treatment for osteoporosis. Antibody and synthetic antagonist or agonist which modify the action of hormone and growth factor, an inhibitor of ectopic bone formation and a stimulator of muscle mass have been developed as a new drug for metabolic bone diseases and skeletal dysplasias...
2018: Clinical Calcium
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#20
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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