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https://www.readbyqxmd.com/read/29165438/our-experience-in-the-surgical-management-of-craniofacial-fibrous-dysplasia-what-has-changed-in-the-last-10-years
#1
V Valentini, A Cassoni, V Terenzi, M Della Monaca, M T Fadda, O Rajabtork Zadeh, I Raponi, A Anelli, G Iannetti
The mainstay of treatment of craniofacial dysplasia (CFD) remains surgery once clinical observation has been excluded. Nevertheless, disagreement remains about the type of surgical intervention (remodelling versus radical resection). The aim of this paper is to present our experience until 2013 comparing CFD management between 1980 and 2002 and between 2003 and 2013 and to propose our surgical algorithm. From January 2003 to December 2013, 41 new patients (18 males and 23 females) with histologically demonstrated CFD presented to our Department...
October 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29158926/acquired-elliptocytosis-as-a-manifestation-of-myelodysplastic-syndrome-with-ring-sideroblasts-and-multilineage-dysplasia
#2
Jacob D Kjelland, Denis M Dwyre, Brian A Jonas
Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with an elliptocytosis that had only recently been noted on peripheral smears of his blood. After bone marrow biopsy he was diagnosed with MDS with ring sideroblasts and multilineage dysplasia and acquired elliptocytosis. Here we report a rare case of acquired elliptocytosis cooccurring with MDS with ring sideroblasts and multilineage dysplasia...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29158687/novel-mutation-of-fkbp10-in-a-pediatric-patient-with-osteogenesis-imperfecta-type-xi-identified-by-clinical-exome-sequencing
#3
Harvy Mauricio Velasco, Jessica L Morales
Osteogenesis imperfecta (OI) is a hereditary disease characterized by bone fragility caused by mutations in the proteins that support the formation of the extracellular matrix in the bone. The diagnosis of OI begins with clinical suspicion, from phenotypic findings at birth, low-impact fractures during childhood or family history that may lead to it. However, the variability in the semiology of the disease does not allow establishing an early diagnosis in all cases, and unfortunately, specific clinical data provided by the literature only report 28 patients with OI type XI...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29158412/induced-gnas-r201h-expression-from-the-endogenous-gnas-locus-causes-fibrous-dysplasia-by-up-regulating-wnt-%C3%AE-catenin-signaling
#4
Sanjoy Kumar Khan, Prem Swaroop Yadav, Gene Elliott, Dorothy Zhang Hu, Ruoshi Xu, Yingzi Yang
Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which encodes the stimulatory G protein Gαs FD can lead to severe adverse conditions such as bone deformity, fracture, and severe pain, leading to functional impairment and wheelchair confinement. So far there is no cure, as the underlying molecular and cellular mechanisms remain largely unknown and the lack of appropriate animal models has severely hampered FD research...
November 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29157551/fibro-osseous-and-other-lesions-of-bone-in-the-jaws
#5
REVIEW
Mansur Ahmad, Laurence Gaalaas
Fibroosseous lesions in the jaws have similar histologic and radiographic features. Despite their similarity, management varies significantly. In this article, common fibroosseous lesions and key radiographic features are described. Many of the fibroosseous lesions are diagnosed radiographically, without performing histologic examinations. For some of the fibroosseous lesions, for example, periapical osseous dysplasia, histologic examination is contraindicated. Cherubism and fibrous dysplasia have specific radiographic findings; these conditions can be diagnosed radiographically...
January 2018: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/29156073/radiographic-underestimation-of-in-vivo-cup-coverage-provided-by-total-hip-arthroplasty-for-dysplasia
#6
Yong Nie, HaoYang Wang, ZeYu Huang, Bin Shen, Virginia Byers Kraus, Zongke Zhou
The accuracy of using 2-dimensional anteroposterior pelvic radiography to assess acetabular cup coverage among patients with developmental dysplasia of the hip after total hip arthroplasty (THA) remains unclear in retrospective clinical studies. A group of 20 patients with developmental dysplasia of the hip (20 hips) underwent cementless THA. During surgery but after acetabular reconstruction, bone wax was pressed onto the uncovered surface of the acetabular cup. A surface model of the bone wax was generated with 3-dimensional scanning...
November 20, 2017: Orthopedics
https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#7
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29145679/-leukopenia-a-diagnostic-guideline-for-the-clinical-routine
#8
Deborah Christen, Tim H Brümmendorf, Jens Panse
Reasons for leukopenia can be numerous. To get close to the diagnosis it's always useful to check previous blood counts of the patient to get a feeling for the dynamic development of the leukopenia. Furthermore, it's important to check the red blood cell count and platelet count as well; a bi- or a pancytopenia usually implies an insufficient production in the bone marrow. Nevertheless, a manual counted peripheral blood smear is an essential step towards the right diagnosis in leukopenia: Beside cell counts of the single subgroups of leucocytes it also provides information on potential causes such as dysplasia...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29139617/world-s-smallest-combined-en-bloc-liver-pancreas-transplantation
#9
Ahmed M Elsabbagh, Jason Hawksworth, Khalid M Khan, Nada Yazigi, Cal S Matsumoto, Thomas M Fishbein
We present a case of a 2-year-old child who underwent a combined en bloc liver and pancreas transplant following complications of WRS. WRS is characterized clinically through infantile insulin-dependent diabetes mellitus, neutropenia, recurrent infections, propensity for liver failure following viral infections, bone dysplasia, and developmental delay. Usually, death occurs from fulminant liver and concomitant kidney failure. Few cases with WRS are reported in the literature, mostly from consanguineous parents...
November 15, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#10
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29129617/computed-tomographic-evaluation-of-bone-stock-in-patients-with-crowe-type-iii-developmental-dysplasia-of-the-hip-implications-for-guiding-acetabular-component-placement-using-the-high-hip-center-technique
#11
Bo Liu, Yu-Hang Gao, Lu Ding, Shu-Qiang Li, Jian-Guo Liu, Xin Qi
BACKGROUND: We evaluated acetabular cup coverage (CC) and rim contact (RC) to evaluate the bone stock above the acetabulum for guiding acetabular component placement using the high hip center technique in patients with Crowe type III developmental dysplasia of the hip. METHODS: Using hip computed tomography and image processing software, pelvises were reconstructed digitally in 20 hips with Crowe type III developmental dysplasia of the hip. Mimicked cup was placed with anteversion angles of 0° (group I), 5° (group II), and 10° (group III) respectively...
October 24, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29125822/liposclerosing-myxofibrous-tumor-a-rare-tumor-of-proximal-femur
#12
Ozan Beytemür, Ümit Seza Tetikkurt, Cem Albay, Gonca Kavşut, Akif Güleç
Liposclerosing myxofibrous tumor is a very rarely observed benign fibro-osseous lesion, which contains complex histological structures. It was first described in the year 1986. Histopathological examination of the lesion may show myxoid areas, osteoclastic activity, bone trabeculae similar to fibrous dysplasia, fat necrosis, ischemic ossification and rarely cartilage components. This lesion, which is particularly localized to the proximal femur, is thought to be associated with fibrous dysplasia. In this case report, we aim to present a liposclerosing myxofibrous tumor case, which was treated surgically, in light of the literature review...
December 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/29124309/gain-of-function-of-tmem16e-ano5-scrambling-activity-caused-by-a-mutation-associated-with-gnathodiaphyseal-dysplasia
#13
Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke, Anna Boccaccio
Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We show here that human TMEM16E, when overexpressed in mammalian cell lines, displayed partial plasma membrane localization and gave rise to phospholipid scrambling (PLS) as well as non-selective ionic currents with slow time-dependent activation at highly depolarized membrane potentials...
November 9, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29123414/low-grade-central-osteosarcoma-in-proximal-humerus-a-rare-entity
#14
Fan Tang, Li Min, Yong Zhou, Yi Luo, Chongqi Tu
Low-grade central osteosarcoma is a rare subtype of tumor with low-grade malignancy. Currently, wide resection with negative resection margin is the standard treatment for this disease. The role of neoadjuvant chemotherapy in low-grade central osteosarcoma was controversial and was mostly considered for tumors containing high-grade focal areas. Local tumor recurrences often exhibited a tumor with higher histologic grade or differentiation with the potential for metastases. In low-grade central osteosarcoma, timely wide resection after definite diagnosis can result in 5-year survival for almost 90%...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#15
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29107070/inflammation-driven-colon-neoplasmatogenesis-in-upa-deficient-mice-is-associated-with-an-increased-expression-of-runx-transcriptional-regulators
#16
Hara Afaloniati, George S Karagiannis, Alexandros Hardas, Theofilos Poutahidis, Katerina Angelopoulou
Deregulation of the bone morphogenetic protein (BMP) pathway has been documented in colorectal cancer (CRC). Previously, we investigated possible associations between urokinase-type plasminogen activator (uPA) deficiency and expression of extracellular constituents of BMP signaling in a newly developed mouse model of inflammation-driven intestinal neoplasmatogenesis, in which chronic colitis and CRC are induced using dextran sodium sulfate (DSS). In this report, we explored the contribution of intracellular components of Smad-mediated BMP signal transduction using the same model...
October 26, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29104223/detection-of-rare-somatic-gnas-mutation-in-mccune-albright-syndrome-using-a-novel-peptide-nucleic-acid-probe-in-a-single-tube
#17
Fu-Sung Lo, Tai-Long Chen, Chiuan-Chian Chiou
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS/FD...
November 1, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29102318/iso-kikuchi-syndrome-report-of-3-pediatric-cases
#18
L L Tirelli, P C Luna, R Cano, J P Giraldo, M Larralde
Iso-Kikuchi syndrome, or congenital onychodysplasia of the index finger, is an uncommon condition characterized by total anonychia or dysplasia of the nail of the index finger. It is occasionally accompanied by underlying bone abnormalities and is rarely associated with other conditions. Although various hypotheses have been put forward to explain the pathophysiology of the syndrome, its etiology remains unknown. We report the cases of 3 pediatric patients (2 boys and 1 girl) with nail changes and bone abnormalities consistent with Iso-Kikuchi syndrome...
November 1, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29100094/de-novo-mutations-in-slc25a24-cause-a-disorder-characterized-by-early-aging-bone-dysplasia-characteristic-face-and-early-demise
#19
Karin Writzl, Ales Maver, Lidija Kovačič, Paula Martinez-Valero, Laura Contreras, Jorgina Satrustegui, Marco Castori, Laurence Faivre, Pablo Lapunzina, André B P van Kuilenburg, Slobodanka Radović, Christel Thauvin-Robinet, Borut Peterlin, Araceli Del Arco, Raoul C Hennekam
A series of simplex cases have been reported under various diagnoses sharing early aging, especially evident in congenitally decreased subcutaneous fat tissue and sparse hair, bone dysplasia of the skull and fingers, a distinctive facial gestalt, and prenatal and postnatal growth retardation. For historical reasons, we suggest naming the entity Fontaine syndrome. Exome sequencing of four unrelated affected individuals showed that all carried the de novo missense variant c.649C>T (p.Arg217Cys) or c.650G>A (p...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29100092/mutations-in-fibronectin-cause-a-subtype-of-spondylometaphyseal-dysplasia-with-corner-fractures
#20
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T McDonald, Mariana I Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T Lu, Dan H Cohn, Marco Tartaglia, Brendan H Lee, Dieter P Reinhardt, Philippe M Campeau
Fibronectin is a master organizer of extracellular matrices (ECMs) and promotes the assembly of collagens, fibrillin-1, and other proteins. It is also known to play roles in skeletal tissues through its secretion by osteoblasts, chondrocytes, and mesenchymal cells. Spondylometaphyseal dysplasias (SMDs) comprise a diverse group of skeletal dysplasias and often manifest as short stature, growth-plate irregularities, and vertebral anomalies, such as scoliosis. By comparing the exomes of individuals with SMD with the radiographic appearance of "corner fractures" at metaphyses, we identified three individuals with fibronectin (FN1) variants affecting highly conserved residues...
November 2, 2017: American Journal of Human Genetics
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