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dysplasia skeletical

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https://www.readbyqxmd.com/read/28546996/a-mutation-creating-an-upstream-initiation-codon-in-the-sox9-5-utr-causes-acampomelic-campomelic-dysplasia
#1
Anna E von Bohlen, Johann Böhm, Ramona Pop, Diana S Johnson, John Tolmie, Ralf Stücker, Deborah Morris-Rosendahl, Gerd Scherer
BACKGROUND: Campomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around SOX9. CD is characterized by multiple skeletal malformations including bending (campomelia) of long bones. Surviving patients frequently have the acampomelic form of CD (ACD). METHODS: This is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the SOX9 protein-coding sequence nor a translocation with breakpoint in the SOX9 regulatory domain...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#2
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28533645/image-findings-of-polyostotic-fibrous-dysplasia-mimicking-metastasis-in-f-18-fdg-positron-emission-tomography-computed-tomography
#3
Koramadai Karuppusamy Kamaleshwaran, Jephy Joseph, Radhakrishnan Kalarikal, Ajit Sugunan Shinto
Fibrous dysplasia (FD) of the bone is characterized by the medullary cavity of bones becoming filled with fibrous tissue, and its etiology remains unknown. It is usually asymptomatic and found incidentally on imaging studies that are performed for other purposes. FD may closely mimic the appearance of bony metastatic disease on radiological examinations. We report the case of a 45-year-old female patient, which appeared to have multiple bone lesions on initial workup images. Subsequently, the bone lesions that showed increased FDG uptake on PET/CT in right femur and tibia were identified as FD...
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28523278/chondrocyte-specific-knockout-of-tsc-1-leads-to-congenital-spinal-deformity-in-mice
#4
Cheng Yang, Yuhui Chen, Zhen Li, He Cao, Keming Chen, Pinglin Lai, Bo Yan, Bin Huang, Jiajun Tang, Shicai Fan, Daozhang Cai, Dadi Jin, Xiaochun Bai, Rongping Zhou
Congenital spinal deformity is the most severe clinical orthopedic issue worldwide. Among all the pathological processes of congenital spinal deformity, the imbalance of endochondral ossification is considered to be the most important developmental cause of spinal dysplasia. We established chondrocyte-specific TSC-1 knockout (KO) mice to overactivate the energy metabolic component, mammalian target of rapamycin complex 1 (mTORC1), and measured the spinal development by general, imaging, histological, and Western-blot assessments...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#5
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28506345/-infantile-hypophosphatasia-caused-by-a-novel-compound-heterozygous-mutation-a-case-report-and-pedigree-analysis
#6
Deng-Feng Li, Dan Lan, Jing-Zi Zhong, Roma Kajal Dewan, Yan-Shu Xie, Ying Yang
This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28505335/functional-analysis-of-novel-runx2-mutations-in-cleidocranial-dysplasia
#7
Li Zeng, Jiahui Wei, Dong Han, Haochen Liu, Yang Liu, Na Zhao, Shichen Sun, Yixiang Wang, Hailan Feng
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. The purpose of this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function of the mutant RUNX2 proteins. DNA samples were prepared from the peripheral blood of the CCD individuals, and then subjected to DNA sequencing. Conservation and secondary structure analysis were performed based on RUNX2 sequencing results. pEGFP-C1 plasmids containing GFP-tagged wild-type RUNX2 and three novel RUNX2 mutations expression cassettes were constructed, and then transfected into HEK293T cells...
May 13, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28504488/argentine-references-for-the-assessment-of-body-proportions-from-birth-to-17-years-of-age
#8
Mariana Del Pino, Alicia B Orden, María A Arenas, Virginia Fano
INTRODUCTION: Abnormal body proportions may indicate skeletal disorders; therefore, their detection has great clinical significance. OBJETIVES: To estimate centiles for head circumference/height (HC/H) and sitting height/height (SH/H) ratios, and assess their diagnostic usefulness among a group of children with skeletal dysplasia. METHODS: Centiles 3, 10, 25, 50, 75, 90 and 97 for HC/H and SH/H ratios were estimated with the LMS method using Box-Cox transformation to normalize data distribution for each age...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28497456/survivorship-and-complications-of-total-hip-arthroplasty-in-patients-with-dwarfism
#9
Ronuk M Modi, Michael M Kheir, Timothy L Tan, Gregory S Penny, Chi-Lung Chen, Hongyi Shao, Antonia F Chen
BACKGROUND: Total hip arthroplasty (THA) is a common procedure used to treat bony hip deformities and skeletal dysplasia in dwarfism. These surgeries are often more difficult than conventional THA as they may involve malformed joints and poor bone quality, and may require smaller prostheses. This study aims to investigate whether implant survivorship and revision rates vary among patients with and without dwarfism undergoing THA. METHODS: A retrospective case-control study was performed for 102 THAs completed between 1997 and 2014 in patients under the height threshold of 147...
May 10, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28495326/bone-dysplasia
#10
Agnès Linglart, Valérie Merzoug, Anne-Sophie Lambert, Catherine Adamsbaum
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization. Bone dysplasia mostly affect many organs, and therefore require multidisciplinary follow-up and care...
May 8, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28479320/dynein-driven-retrograde-intraflagellar-transport-is-triphasic-in-c-%C3%A2-elegans-sensory-cilia
#11
Peishan Yi, Wen-Jun Li, Meng-Qiu Dong, Guangshuo Ou
Cytoplasmic dynein-2 powers retrograde intraflagellar transport that is essential for cilium formation and maintenance. Inactivation of dynein-2 by mutations in DYNC2H1 causes skeletal dysplasias, and it remains unclear how the dynein-2 heavy chain moves in cilia. Here, using the genome-editing technique to produce fluorescent dynein-2 heavy chain in Caenorhabditis elegans, we show by high-resolution live microscopy that dynein-2 moves in a surprising way along distinct ciliary domains. Dynein-2 shows triphasic movement in the retrograde direction: dynein-2 accelerates in the ciliary distal region and then moves at maximum velocity and finally decelerates adjacent to the base, which may represent a physical obstacle due to transition zone barriers...
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28476577/utility-of-quantitative-micro-computed-tomographic-analysis-in-zebrafish-to-define-gene-function-during-skeletogenesis
#12
Julia F Charles, Meera Sury, Kelly Tsang, Katia Urso, Katrin Henke, Yue Huang, Ruby Russell, Jeffrey Duryea, Matthew P Harris
The zebrafish is a powerful experimental model to investigate the genetic and morphologic basis of vertebrate development. Analysis of skeletogenesis in this fish is challenging as a result of the small size of the developing and adult zebrafish. Many of the bones of small fishes such as the zebrafish and medaka are quite thin, precluding many standard assays of bone quality and morphometrics commonly used on bones of larger animals. Microcomputed tomography (microCT) is a common imaging technique used for detailed analysis of the skeleton of the zebrafish and determination of mutant phenotypes...
May 2, 2017: Bone
https://www.readbyqxmd.com/read/28471274/contrasting-phenotypes-in-resistance-to-thyroid-hormone-%C3%AE-correlate-with-divergent-properties-of-thyroid-hormone-receptor-%C3%AE-1-mutant-proteins
#13
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka C Offiah, John Stephen Barton, Susan Price, John Wr Schwabe, V Krishna Chatterjee
BACKGROUND: Resistance to Thyroid Hormone alpha (RTHα), a disorder characterised by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor α gene mutations, is rare but probably underrecognised. We sought to correlate the clinical characteristics and response to thyroxine therapy in two adolescent RTHα patients with the properties of the <i>THRA</i> mutation, affecting both TRα1 and TRα2 proteins, they harboured. METHODS: Clinical, auxological, biochemical and physiological parameters were assessed in each patient at baseline and after thyroxine therapy...
May 4, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28463542/ultra-low-dose-fetal-ct-with-model-based-iterative-reconstruction-a-prospective-pilot-study
#14
Rumi Imai, Osamu Miyazaki, Tetsuya Horiuchi, Keisuke Asano, Gen Nishimura, Haruhiko Sago, Shunsuke Nosaka
OBJECTIVE: Prenatal diagnosis of skeletal dysplasia by means of 3D skeletal CT examination is highly accurate. However, it carries a risk of fetal exposure to radiation. Model-based iterative reconstruction (MBIR) technology can reduce radiation exposure; however, to our knowledge, the lower limit of an optimal dose is currently unknown. The objectives of this study are to establish ultra-low-dose fetal CT as a method for prenatal diagnosis of skeletal dysplasia and to evaluate the appropriate radiation dose for ultra-low-dose fetal CT...
May 2, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28462984/endoplasmic-reticulum-retention-of-xylosyltransferase-1-xylt1-mutants-underlying-desbuquois-dysplasia-type-ii
#15
Nesreen K Al-Jezawi, Bassam R Ali, Lihadh Al-Gazali
Desbuquois syndrome is a heterogeneous rare type of skeletal dysplasia with a prevalence of less than 1 in 1,000,000 individuals. It is characterized by short-limbed dwarfism, dysmorphic facial features, and severe joint laxity. Two types have been recognized depending on the presence of distinctive carpal and phalangeal features. Mutations in the calcium activated nucleotidase 1 (CANT1) have been found to be responsible for type I and lately, for the Kim type of Desbuquois dysplasia. In addition, a number of Desbuquois dysplasia type II patients have been attributed to mutations in xylosyltransferase 1, encoded by the XYLT1 gene, an enzyme that catalyzes the transfer of UDP-xylose (a marker of cartilage destruction) to serine residues of an acceptor protein, essential for the biosynthesis of proteoglycans...
April 30, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28457480/how-should-we-investigate-children-with-growth-failure
#16
Juliane Léger
The early diagnosis of short stature is essential for effective management and treatment. Investigations for children with growth failure are required to distinguish between idiopathic short stature due to physiological variants (familial short stature, and constitutional delays of growth and puberty, or both), primary causes of short stature, such as syndromic and/or genetic defects and skeletal dysplasia, and secondary growth deficits due to endocrine or other chronic disorders such as celiac disease, Crohn's disease, malnutrition, renal, anorexia nervosa or other chronic diseases...
April 27, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28449700/determinants-of-impaired-quality-of-life-in-patients-with-fibrous-dysplasia
#17
Bas C J Majoor, Cornelie D Andela, Jens Bruggemann, Michiel A J van de Sande, Ad A Kaptein, Neveen A T Hamdy, P D Sander Dijkstra, Natasha M Appelman-Dijkstra
BACKGROUND: Fibrous dysplasia is a rare bone disorder, commonly associated with pain, deformity and fractures, which may significantly impact on quality of life. In this study we evaluate quality of life in patients with fibrous dysplasia using the Short Form-36 and the Brief Pain Inventory questionnaires. Data were compared with those of the general Dutch population. RESULTS: Out of 138 patients from a cohort of 255 patients with fibrous dysplasia that were sent questionnaires assessing quality of life and pain, the response rate was 70...
April 27, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28446799/expanding-the-spectrum-of-skeletal-dysplasia-with-immunodeficiency-a-commentary-on-identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#18
https://www.readbyqxmd.com/read/28437505/guidelines-for-treatment-of-lateral-patella-dislocations-in-skeletally-mature-patients
#19
Michael C Liebensteiner, Florian Dirisamer, Peter Balcarek, Philip Schoettle
The incidence of lateral patella dislocations is high, particularly in young females. Beside traumatic cases, many patients present with specific anatomical factors that predispose to lateral patella dislocations (torsional abnormalities of the femur or the tibia, trochlea dysplasia, patella alta, etc). It is of utmost importance to correct those pathologic factors during concomitant procedures as isolated reconstructions of the medial patellofemoral ligament would fail in the presence of severe anatomic risk factors...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#20
Michael P Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S Gottesman, William H McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L Skidmore, Katie M Campbell, Ilana S Rosman, Susan Bayliss, Vinieth N Bijanki, Angela Nenninger, Brian A Van Tine, Obi L Griffith, Elaine R Mardis
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3...
April 21, 2017: Bone
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