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https://www.readbyqxmd.com/read/28635991/the-papillomas-of-the-sinonasal-tract-a-comprehensive-review
#1
G Leoncini, L Zanetti
Papillomas are uncommon tumors of the sinonasal tract histologically derived from the Schneiderian membrane. Three distinctive variants are described, the exophytic, the inverting and the oncocytic types. On physical examination, their appearance varies from exophytic-fungiform seen in the exophytic variant, to polypoid-papillary in both the inverting and oncocytic variant. The presence of an asymptomatic mass or epistaxis and unilateral nasal obstruction are the typical presenting symptoms. Clinically they tend to recur and, although benign, they may erode the bone laminas by pressure, especially the inverting type, causing proptosis and other co-morbidities...
March 2017: Pathologica
https://www.readbyqxmd.com/read/28631378/runx2-i-is-an-early-regulator-of-epithelial-mesenchymal-cell-transition-in-the-chick-embryo
#2
Andre L P Tavares, Jessie A Brown, Emily C Ulrich, Katerina Dvorak, Raymond B Runyan
BACKGROUND: Though normally linked to bone and cartilage development, the Runt-related transcription factor, RUNX2, was reported in the mouse heart during development of the valves. We examined RUNX2 expression and function in the developing avian heart as it related to the epithelial-mesenchymal transition (EMT) in the atrioventricular canal. EMT can be separated into an activation stage involving hypertrophy and cell separation and an invasion stage where cells invade the extracellular matrix...
June 19, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28621617/intrathoracic-meningocele-associated-with-neurofibromatosis-type-1-and-a-novel-technique-for-surgical-repair-case-report
#3
Paramita Das, Tarini Goyal, Matthew A Hunt
Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Surgical interventions discussed in the literature include shunting the pseudomeningocele, primary repair with laminectomy, thoracoscopic plication, and reinforcement of the closure with cement, muscle, or fascia...
June 16, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#4
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28612705/treatment-of-acetabular-chondral-lesions-with-microfracture-technique
#5
Claudio Mella, Alvaro Nuñez, Ignacio Villalón
INTRODUCTION: Acetabular cartilage lesions are frequently found during hip arthroscopy. In the hip joint they mostly occur secondary to a mechanical overload resulting from a pre-existing deformity as hip dysplasia or femoroacetabular impingement (FAI). Lesions identified during arthroscopy can vary greatly from the earliest stages to the most advanced (full-thickness lesions). These lesions occur in the acetabulum in the early stages of joint damage. Microfractures are indicated in full-thickness chondral defects...
2017: SICOT-J
https://www.readbyqxmd.com/read/28612379/mccune-albright-syndrome-associated-bone-marrow-failure-and-extramedullary-haematopoeisis-secondary-to-fibrous-dysplasia
#6
Ali Jassem Mahdi, Phillip Connor, Indu Thakur
No abstract text is available yet for this article.
June 14, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28611930/vestibular-derangement-and-motion-intolerance-in-vater-association
#7
Orit Samuel, Avi Shupak, Ayelet Eran, Dror Tal
VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28608487/intramuscular-myxoma-and-fibrous-dysplasia-of-bone-presents-as-mazabraud-s-syndrome
#8
Benny Yau, Hock W Kua, Michael F Lo
No abstract text is available yet for this article.
June 13, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28596259/morphologic-and-molecular-characteristics-of-de-novo-aml-with-jak2-v617f-mutation
#9
Juliana E Hidalgo-López, Rashmi Kanagal-Shamanna, L Jeffrey Medeiros, Zeev Estrov, C Cameron Yin, Srdan Verstovsek, Sergej Konoplev, Jeffrey L Jorgensen, Mohammad M Mohammad, Roberto N Miranda, Chong Zhao, John Lee, Zhuang Zuo, Carlos E Bueso-Ramos
Background:JAK2 V617F mutation (mut) in acute myeloid leukemia (AML) is rare. We describe the clinicopathologic findings of a single-institution series of 11 de novo AML cases with JAK2 V617. Methods: We identified cases of de novo AML with JAK2 V617F over a 10-year period. We reviewed diagnostic peripheral blood and bone marrow (BM) morphologic, cytogenetic, and molecular studies, including next-generation sequencing. The control group consisted of 12 patients with JAK2 wild-type (wt) AML matched for age, sex, and diagnosis...
June 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28596252/success-in-bone-marrow-failure-novel-therapeutic-directions-based-on-the-immune-environment-of-myelodysplastic-syndromes
#10
REVIEW
Alyssa H Cull, Michael J Rauh
Myelodysplastic syndromes (MDS) are clonal neoplasms of aging that are associated with BM failure, related cytopenias, fatigue, susceptibility to infections, bruising, bleeding, a shortened lifespan, and a propensity for leukemic transformation. Most frail, elderly patients are not candidates for curative allogeneic BM transplantations and instead receive expectant management, supportive blood transfusions, or empirical, nontargeted therapy. It has been known for some time that MDS arises in an abnormal BM immune environment; however, connections have only recently been established with recurring MDS-associated mutations...
June 8, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28595297/fgfr2-mutations-in-bent-bone-dysplasia-syndrome-activate-nucleolar-stress-and-perturb-cell-fate-determination
#11
Cynthia L Neben, Creighton T Tuzon, Xiaojing Mao, Fides D Lay, Amy E Merrill
Fibroblast growth factor (FGF) signaling promotes self-renewal in progenitor cells by encouraging proliferation and inhibiting cellular senescence. Yet, these beneficial effects can be hijacked by disease-causing mutations in FGF receptor (FGFR) during embryogenesis. By studying dominant FGFR2 mutations that are germline in Bent Bone Dysplasia Syndrome (BBDS), we reveal a mechanistic connection between FGFR2, ribosome biogenesis, and cellular stress that links cell fate determination to disease pathology. We previously showed that FGFR2 mutations in BBDS, which amplify nucleolar targeting of FGFR2, activate ribosomal DNA (rDNA) transcription and delay differentiation in osteoprogenitor cells and patient-derived bone...
June 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28588781/p53-protein-expression-in-patients-with-myelodysplasia-treated-with-allogeneic-bone-marrow-transplantation
#12
Achille Pich, Laura Godio, Laura Davico Bonino
Tumor protein 53 mutations adversely affect the prognosis of myelodysplastic syndromes (MDS); however, few studies have reported on the prognostic significance of the expression of p53 protein in MDS. The current study investigated p53 immunoreactivity (p53-IR) in bone marrow biopsies (BMBs) obtained at diagnosis from 18 patients (6 females and 12 males; mean age, 50.5 years) with MDS that underwent bone marrow transplantation (BMT) to determine the associations between clinical and histopathological data and outcome...
June 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28586251/the-relationship-between-idiopathic-cytopenias-dysplasias-of-uncertain-significance-icus-idus-and-autoimmunity
#13
Wilma Barcellini
This review examines the several lines of evidence that support the relationship between myelodysplasia and autoimmunity, i.e. their epidemiologic association, the existence of common immune-mediated physiopathologic mechanisms, and the response to similar immunosuppressive therapies. The same relationship is reviewed here considering idiopathic cytopenia of uncertain significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), two recently recognized provisional conditions characterized by isolated/unexplained cytopenia and/or dysplasia in <10% bone marrow cells...
June 15, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28585336/liver-directed-human-amniotic-epithelial-cell-transplantation-improves-systemic-disease-phenotype-in-hurler-syndrome-mouse-model
#14
Natalie S Rodriguez, Lisa Yanuaria, Kevin Murphy R Parducho, Irving M Garcia, Bino A Varghese, Brendan H Grubbs, Toshio Miki
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). In affected patients, the systemic accumulation of GAGs results in skeletal dysplasia, neurological degeneration, multiple organ dysfunction, and early death. Current therapies, including enzyme replacement and bone marrow transplant, improve life expectancy but the benefits to skeletal and neurological phenotypes are limited. In this study, we tested the therapeutic efficacy of liver-directed transplantation of a placental stem cell, which possesses multilineage differentiation potential, low immunogenicity, and high lysosomal enzyme activity...
June 6, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28583274/benign-bone-conditions-that-may-be-fdg-avid-and-mimic-malignancy
#15
REVIEW
Thomas C Kwee, John M H de Klerk, Maarten Nix, Ben G F Heggelman, Stefan V Dubois, Hugo J A Adams
Positron emission tomography with the radiotracer (18)F-fluoro-2-deoxy-d-glucose (FDG) plays an important role in the evaluation of bone pathology. However, FDG is not a cancer-specific agent, and knowledge of the differential diagnosis of benign FDG-avid bone alterations that may resemble malignancy is important for correct patient management, including the avoidance of unnecessary additional invasive tests such as bone biopsy. This review summarizes and illustrates the spectrum of benign bone conditions that may be FDG-avid and mimic malignancy, including osteomyelitis, bone lesions due to benign systemic diseases (Brown tumor, Erdheim-Chester disease, Gaucher disease, gout and other types of arthritis, Langerhans cell histiocytosis, and sarcoidosis), benign primary bone lesions (bone cysts, chondroblastoma, chondromyxoid fibroma, desmoplastic fibroma, enchondroma, giant cell tumor and granuloma, hemangioma, nonossifying fibroma, and osteoid osteoma and osteoblastoma), and a group of miscellaneous benign bone conditions (post bone marrow biopsy or harvest status, bone marrow hyperplasia, fibrous dysplasia, fractures, osteonecrosis, Paget disease of bone, particle disease, and Schmorl nodes)...
July 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28581440/ubiquitin-ligase-rnf146-coordinates-bone-dynamics-and-energy-metabolism
#16
Yoshinori Matsumoto, Jose La Rose, Melissa Lim, Hibret A Adissu, Napoleon Law, Xiaohong Mao, Feng Cong, Paula Mera, Gerard Karsenty, David Goltzman, Adele Changoor, Lucia Zhang, Megan Stajkowski, Marc D Grynpas, Carsten Bergmann, Robert Rottapel
Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts. Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. Loss of RNF146 stabilized its substrate AXIN1, leading to impairment of WNT3a-induced β-catenin activation and reduced Fgf18 expression in osteoblasts. We show that FGF18 induces transcriptional coactivator with PDZ-binding motif (TAZ) expression, which is required for osteoblast proliferation and differentiation through transcriptional enhancer associate domain (TEAD) and runt-related transcription factor 2 (RUNX2) transcription factors, respectively...
June 5, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28578077/oral-rehabilitation-with-implant-supported-fixed-dental-prostheses-of-a-patient-with-cleidocranial-dysplasia
#17
Fethi Atil, Ahmet Culhaoglu, Ismail Doruk Kocyigit, Zahit Adisen, Melda Misirlioglu, Burak Yilmaz
This clinical report describes the oral rehabilitation with implant-supported fixed dental prostheses in the maxilla and mandible of a patient with cleidocranial dysplasia. Cone-beam computed tomography and a tilted implant protocol in the mandible helped to establish a conservative approach for bone preservation, prevent surgical complications, enable proper implant positioning to avoid anatomic structures, and support the fixed dental prostheses.
May 31, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#18
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28576532/inner-ear-anomalies-in-children-with-isolated-unilateral-congenital-aural-atresia
#19
Tyler R Halle, Bruno P Soares, N Wendell Todd
OBJECTIVES/HYPOTHESIS: We aim to define the frequencies of anomalies of the inner ear, oval window, and round window ipsilateral to isolated non-syndromic unilateral aural atresia. METHODS AND MATERIALS: Retrospective case series. We reviewed high resolution computed tomography scans of the temporal bones of 70 children with isolated non-syndromic unilateral congenital aural atresia. Scans were reviewed according to the Jahrsdoerfer criteria and further evaluated for anomalies of the vestibule, semi-circular canals, cochlea, internal auditory canal and vestibulocochlear nerve...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28575890/familial-unilateral-carpal-bone-dysplasia-in-mother-and-daughter
#20
Tatsuo Fuchigami, Yukihiko Fujita, Mika Oyama, Yasuji Inamo, Shori Takahashi, Taihei Yamaguchi, Osamu Miyazaki, Gen Nishimura
No abstract text is available yet for this article.
July 2017: Clinical Dysmorphology
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