keyword
MENU ▼
Read by QxMD icon Read
search

bone dysplasias

keyword
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/28533644/atypical-parathyroid-adenoma-with-multiple-brown-tumors-as-initial-presentation-a-rare-entity
#4
V S Krishna Mohan, Manishi L Narayan, Arun Mukka, Bharath Bachimanchi, Amit Kumar Chowhan, B Vijayalakshmi Devi, Suresh Vaikkakara, Alok Sachan
Brown tumors seen in hyperparathyroidism are rare, non-neoplastic lesions because of abnormal bone metabolism, and they can mimic benign bone tumors or malignancy. Although biopsy is considered as the gold standard for diagnosis, it can be inconclusive. As the diagnosis of brown tumors is often challenging, a high index of suspicion is essential for diagnosis. We present a case of 21-year-old woman who presented with multiple painful bony lesions, which were initially misdiagnosed as fibrous dysplasia. Due to persistent bone pain and deterioration in her physical mobility, she was referred to tertiary care centre...
April 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/28529749/chondroblastic-osteosarcoma-arising-in-the-maxilla-mimicking-the-radiographic-and-histological-characteristics-of-cemento-osseous-lesions-a-case-report
#5
Bin-Bin Li, Jian-Yun Zhang, Yan Gao
Osteosarcomas of the jaw are comparatively rare and represent only 2-10% of all osteosarcomas. We herein present a rare case of an osteosarcoma exhibiting the radiographic and histological characteristics of cemento-osseous lesions in the alveolar ridge of the maxilla. A 53-year-old male patient presented with the complaint of gradual swelling of the left maxilla over 4 years. Radiography revealed an ill-defined radioopaque mass, intimately associated with the apices of the involved teeth, without a periosteal reaction...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28525454/bilateral-tibial-osteofibrous-dysplasia-on-18f-fdg-pet-ct
#6
Hiroaki Nagano, Megumi Jinguji, Masanori Nakajo, Michiyo Higashi, Takashi Yoshiura
A 17-year-old girl had pain in the right front lower leg while road racing 2 months earlier. Radiography and CT showed osteolytic lesions in the medial part of the bilateral tibia. Bone scintigraphy showed focally increased radiotracer uptake in the bilateral tibia. The lesions showed hypermetabolism on FDG PET/CT. Osteofibrous dysplasia was suspected from the radiographic findings, but adamantinoma or metastases could not be excluded. Surgical biopsies were performed, and histopathologic studies confirmed the diagnosis of bilateral osteofibrous dysplasia...
May 19, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28523324/anatomical-features-and-prosthetic-considerations-of-edentulous-patients-with-mandibular-reconstruction-with-autograft-performed-more-than-40-years-ago
#7
Cătălina Murariu-Măgureanu, Cristina Teodora Preoteasa, Laura Iosif, Marina Imre, Marian Cuculescu, Elena Preoteasa
In this manuscript there are presented two cases, both with mandibular reconstruction with autograft harvested from the iliac crest, performed more than 40 years ago, but with different bone defect etiology, i.e., mandibular dysplasia and mandibular fracture, both having currently extensive tooth loss in the mandible, being in need for prosthetic rehabilitation. These cases confirm that reconstructive surgery of mandibular bone defects with autograft from iliac crest has a satisfactory long-term outcome, providing acceptable conditions for prosthetic rehabilitation...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28512628/dysplasia-of-granulocytes-in-a-patient-with-hpv-disease-recurrent-infections-and-b-lymphopenia-a-novel-variant-of-whim-syndrome
#8
Giusella M F Moscato, Erica Giacobbi, Lucia Anemona, Silvia Di Cesare, Gigliola Di Matteo, Massimo Andreoni, Alessandro Mauriello, Viviana Moschese
WHIM syndrome is a condition in which affected persons have chronic peripheral neutropenia, lymphopenia, abnormal susceptibility to human papilloma virus infection, and myelokathexis. Myelokathexis refers to the retention of mature neutrophils in the bone marrow (BM), which accounts for degenerative changes and hypersegmentation. Most patients present heterozygous autosomal dominant mutations of the gene encoding CXCR4. Consequently, aberrant CXCL12/CXCR4 signaling impairs the receptor downregulation causing hyperactivation (gain-of-function) that affects BM homing for myelopoiesis and lymphopoiesis and the release of neutrophils in the bloodstream...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28510474/increased-magnetic-resonance-imaging-signal-of-the-lateral-patellar-facet-cartilage-a-functional-marker-for-patellar-instability
#9
Anna L Falkowski, Carlo Camathias, Jon A Jacobson, Olaf Magerkurth
BACKGROUND: In the knee joint, predisposition for patellar instability can be assessed by an abnormal Insall-Salvati index, tibial tuberosity-trochlear groove (TTTG) distance, and abnormal shape of patella and trochlea. Given the complex anatomic features of the knee joint with varying positions of the patella during motion, the presence of a single or even a combination of these factors does not inevitably result in patellar instability. After trocheoplasty in patients with trochlear dysplasia, assessment of trochlear cartilage and subchondral bone is limited due to postoperative artifacts...
May 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28507642/diagnostic-imaging-of-pregnant-women-the-role-of-magnetic-resonance-imaging
#10
Monika Bekiesińska-Figatowska, Anna Romaniuk-Doroszewska, Sylwia Szkudlińska-Pawlak, Agnieszka Duczkowska, Jarosław Mądzik, Martyna Szopa-Krupińska, Tomasz M Maciejewski
BACKGROUND: Presentation of magnetic resonance imaging (MRI) findings in pregnant women in the Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. MATERIAL/METHODS: Forty-three symptomatic pregnant women underwent MRI between 9 and 33 weeks of gestation (mean of 23 weeks). Moreover, we included 2 pregnant women who underwent fetal MRI and had incidental abnormalities. RESULTS: In 9 cases, we excluded the suspected brain abnormalities...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28502939/myelodysplastic-syndrome-developing-presacral-extramedullary-hematopoiesis-with-atypical-mri-findings
#11
Haruki Sawada, Takakazu Higuchi, Ryosuke Koyamada, Sadamu Okada
A 64-year-old woman was diagnosed to have refractory cytopenia with multilineage dysplasia (RCMD) including an increased number of sideroblasts in the bone marrow (BM). Computed tomography (CT) revealed a presacral mass which showed iso- or high-intensity signals according to T1-weighted and hypo-intensity signals on T2-weighted magnetic resonance imaging (MRI). CT-guided biopsy revealed the presence of hematopoietic tissue with features that correlated with the BM findings. While the formation of extramedullary hematopoiesis in the presacral area is rare, it is important to differentiate it from other parasacral tumors even though such differentiation is often difficult...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28499806/a-rare-sporadic-case-of-camurati-engelmann-disease-with-jaw-involvement
#12
Maria Fyrgiola, Violeta Lianou, Konstantinos Katoumas, Ioannis Dimopoulos
Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is an uncommon bone dysplasia that is inherited in an autosomal-dominant pattern. The disease mainly affects the diaphyses of the long bones but can induce sclerotic changes to the facial skeleton and skull base. The diagnosis of CED is based on clinical and radiologic features. This article presents the clinical and radiologic characteristics of the jaws as visualized on cone-beam computed tomograms of a 46-year-old woman diagnosed with CED...
April 14, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28497456/survivorship-and-complications-of-total-hip-arthroplasty-in-patients-with-dwarfism
#13
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/28497455/hip-sonography-background-technique-and-common-mistakes-results-debate-and-politics-challenges
#14
Reinhard Graf
Developmental dysplasia of the hip (DDH) is the commonest 'congenital' disease of the locomotor system throughout the world. According to the World Health Organisation (WHO) Bone & Joint Decade (2000-2010) 10%-15% of patients who are under the age of 50 when they require a hip replacement do so because of infant hip dysplasia.The background; technique and common mistakes; results; debate and politics; and the challenges of infant hip sonography are reviewed.
May 8, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28495326/bone-dysplasia
#15
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/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#16
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28490040/individualized-plastic-reconstruction-strategy-for-patients-with-ectodermal-dysplasia-syndrome
#17
Yikang Hou, Yunbo Jin, Xiaoxi Lin, Gang Chai, Yan Zhang, Zuoliang Qi
Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated...
June 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28488027/fibrous-dysplasia-mimicking-bone-metastasis-on-68-ga-psma-pet-mri
#18
Liesbeth De Coster, Raf Sciot, Wouter Everaerts, Olivier Gheysens, Raf Verscuren, Christophe M Deroose, Steven Pans, Koen Van Laere, Karolien E Goffin
No abstract text is available yet for this article.
May 9, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28484164/morphologic-diagnosis-of-myelodysplastic-syndromes
#19
Akira Matsuda
Although cytomorphologic evaluation is important for the diagnosis of myelodysplastic syndromes (MDS), a standardized approach is still lacking. According to the World Health Organization classification, the minimum percentage of cells manifesting dysplasia required to qualify as significant is ≥10% in one or more hematopoietic cell lineages. However, the suitability of this threshold (10%) has not been fully assessed in each lineage. Definitions of the various dysplastic forms that are important for the diagnosis of MDS are still lacking...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28479497/maternal-smoking-during-pregnancy-is-associated-with-childhood-bone-fractures-in-offspring-a-birth-cohort-study-of-6718-children
#20
Roope Parviainen, Juha Auvinen, Tytti Pokka, Willy Serlo, Juha-Jaakko Sinikumpu
In children there is limited understanding about the biological and environmental risk factors of fractures. Therefore, we aimed to study the effect of maternal smoking on preschool children's fractures hypothesizing that the fracture risk might be programmed during intrauterine growth in means of disturbed bone formation. A prospective birth cohort included women living in Northern Finland with an expected date of delivery between July 1st, 1985 and June 30th, 1986 (N=9362), and their offspring (N=9432). Smoking was inquired during pregnancy and when the offspring reached seven years of age...
May 4, 2017: Bone
keyword
keyword
28838
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"