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https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#1
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28915523/-biologic-reconstruction-of-full-sized-cartilage-defects-of-the-hip-a-guideline-from-the-dgou-group-clinical-tissue-regeneration-and-the-hip-committee-of-the-aga
#2
Stefan Fickert, Matthias Aurich, Dirk Albrecht, Peter Angele, Lorenz Büchler, Michael Dienst, Christoph Erggelet, Jürgen Fritz, Christoph Gebhart, Hans Gollwitzer, Moritz Kindler, Christoph Lampert, Henning Madry, Gregor Möckel, Phillip Niemeyer, Jörg Schröder, Christian Sobau, Gunter Spahn, Wolfgang Zinser, Stefan Landgraeber
Background Symptomatic pre-arthritic deformities such as femoroacetabular impingement (FAI) or hip dysplasia often lead to localised cartilage defects and subsequently to osteoarthritis. The present review of the working group "Clinical Tissue Regeneration" of the German Society of Orthopaedics and Trauma (DGOU) and the hip committee of the AGA (German speaking Society for Arthroscopy and Joint Surgery) provides an overview of current knowledge of the diagnosis and surgical treatment of cartilage defects, in order to infer appropriate therapy recommendations for the hip...
September 15, 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28910695/mds-classification-is-improving-in-an-era-of-the-who-2016-criteria-of-mds-a-population-based-analysis-among-9159-mds-patients-diagnosed-in-the-netherlands
#3
Avinash G Dinmohamed, Otto Visser, Eduardus F M Posthuma, Peter C Huijgens, Pieter Sonneveld, Arjan A van de Loosdrecht, Mojca Jongen-Lavrencic
BACKGROUND: Morphologic and cytogenetic assessments are required to characterize diagnostic and prognostic features of myelodysplastic syndromes (MDS). We assessed whether these assessments were performed among newly diagnosed MDS patients in the Netherlands. METHODS: MDS cases were retrieved from the nationwide Netherlands Cancer Registry (N=9159; period 2001-2014) and the regional PHAROS MDS registry (N=676; period 2008-2011). RESULTS: The proportion of unclassified MDS decreased from 58% in 2001 to 13% in 2014...
September 11, 2017: Cancer Epidemiology
https://www.readbyqxmd.com/read/28898321/-cleidocranial-dysplasia-a-case-report
#4
Olga Medina, Nelson Muñoz, Carlos Moneriz
INTRODUCTION: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28894655/intraoperative-evaluation-of-body-surface-improvement-by-an-augmented-reality-system-that-a-clinician-can-modify
#5
Daisuke Mitsuno, Koichi Ueda, Tomoki Itamiya, Takashi Nuri, Yuki Otsuki
BACKGROUND: Augmented reality (AR) technology that can combine computer-generated images with a real scene has been reported in the medical field recently. We devised the AR system for evaluation of improvements of the body surface, which is important for plastic surgery. METHODS: We constructed an AR system that is easy to modify by combining existing devices and free software. We superimposed the 3-dimensional images of the body surface and the bone (obtained from VECTRA H1 and CT) onto the actual surgical field by Moverio BT-200 smart glasses and evaluated improvements of the body surface in 8 cases...
August 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#6
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28889021/maxillary-sinuses-and-midface-in-patients-with-cleidocranial-dysostosis
#7
Tomasz Kulczyk, Agnieszka Przystańska, Artur Rewekant, Renata Turska-Malińska, Agata Czajka-Jakubowska
The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Files of four children with cleidocranial dysplasia were investigated.Volume of every maxillary sinus as well as two dimensional measurements of distances between particular points of interest located on surface of maxilla were calculated from reconstructed CBCT examination...
September 6, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28886148/balancing-anti-inflammatory-and-anti-oxidant-responses-in-murine-bone-marrow-derived-macrophages
#8
Christopher R Nitkin, Tracey L Bonfield
RATIONALE: The underlying pathophysiology of bronchopulmonary dysplasia includes a macrophage-mediated host response orchestrated by anti-inflammatory peroxisome proliferator-activated receptor gamma (PPARγ) and anti-oxidant nuclear factor (erythroid-derived 2)-like 2 (Nrf2). These have not yet been studied in combination. This study tested the hypothesis that combined inflammatory and oxidative stressors would interact and change PPARγ- and Nrf2-regulated gene expression and antioxidant capacity...
2017: PloS One
https://www.readbyqxmd.com/read/28885361/angioimmunoblastic-t-cell-lymphoma-and-hypereosinophilic-syndrome-with-fip1l1-pdgfra-fusion-gene-effectively-treated-with-imatinib-a-case-report
#9
Masayo Yamamoto, Katsuya Ikuta, Yasumichi Toki, Mayumi Hatayama, Motohiro Shindo, Yoshihiro Torimoto, Toshikatsu Okumura
RATIONALE: Hypereosinophilic syndrome (HES) is a rare disorder characterized by hypereosinophilia and organ damage. Some cases of HES are caused by the FIP1L1/PDGFRA fusion gene and respond to imatinib. FIP1L1/PDGFRA-positive HES occasionally evolves into chronic eosinophilic leukemia or into another form of myeloproliferative neoplasm; however, the development of a malignant lymphoma is very rare. We present a rare case of angioimmunoblastic T-cell lymphoma (AITL) and HES with the FIP1L1/PDGFRA gene rearrangement...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28872534/morphological-analysis-of-true-acetabulum-in-hip-dysplasia-crowe-classes-i-iv-via-3-d-implantation-simulation
#10
Yuhui Yang, Jianlin Zuo, Tong Liu, Jianlin Xiao, Shuanglu Liu, Zhongli Gao
BACKGROUND: The purpose of this study was to investigate the 3-dimensional (3D) morphological features of the true acetabulum in patients with developmental dysplasia of the hip (DDH). METHODS: Seventy-nine hips-53 in patients with developmental dysplasia of the hip (DDH) and 36 normal hips-were included in the present study. According to the Crowe classification, 26 hips were graded as Class I, 31 were Class II or III, and 22 were Class IV. The anterior pelvic plane was defined to standardize the measurements in the study...
September 6, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#11
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28868793/chronic-steroid-response-pancytopenia-and-increased-bone-density-due-to-thromboxane-synthase-deficiency
#12
Richa Sharma, Elizabeth Sierra Potchanant, Jennifer E Schwartz, Grzegorz Nalepa
Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein...
September 4, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28860408/late-presentation-of-developmental-dysplasia-of-the-hip-a-15-year-observational-study
#13
C Talbot, J Adam, R Paton
AIMS: Despite the presence of screening programmes, infants continue to present with late developmental dysplasia of the hip (DDH), the impact of which is significant. The aim of this study was to assess infants with late presenting dislocation of the hip despite universal clinical neonatal and selective ultrasound screening. PATIENTS AND METHODS: Between 01 January 1997 to 31 December 2011, a prospective, longitudinal study was undertaken of a cohort of 64 670 live births...
September 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28860391/the-mucopolysaccharidoses-advances-in-medical-care-lead-to-challenges-in-orthopaedic-surgical-care
#14
REVIEW
N Williams, D Challoumas, D Ketteridge, P J Cundy, D M Eastwood
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice. The current literature about MPSs is summarised, emphasising orthopaedic complications and their management. Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment...
September 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28856726/increased-risk-of-breast-cancer-at-a-young-age-in-women-with-fibrous-dysplasia
#15
Bas C J Majoor, Alison M Boyce, Judith V M G Bovée, Vincent T H B M Smit, Michael T Collins, Anne-Marie Cleton-Jansen, Olaf M Dekkers, Neveen A T Hamdy, Sander P D Dijkstra, Natasha M Appelman-Dijkstra
Background Fibrous dysplasia is a rare bone disorder caused by mutations of the GNAS-gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the USA Patients and Methods Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital-records of 134 (Netherlands) and 121 (USA) female patients. Results were validated with breast cancer data of 645 female fibrous dysplasia patients from the Dutch Pathology Registry (PALGA)...
August 30, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28853052/thyroid-diseases-and-bone-health
#16
REVIEW
G R Williams, J H D Bassett
Thyroid hormones are essential for skeletal development and are important regulators of bone maintenance in adults. Childhood hypothyroidism causes delayed skeletal development, retarded linear growth and impaired bone mineral accrual. Epiphyseal dysgenesis is evidenced by classic features of stippled epiphyses on X-ray. In severe cases, post-natal growth arrest results in a complex skeletal dysplasia. Thyroid hormone replacement stimulates catch-up growth and bone maturation, but recovery may be incomplete dependent on the duration and severity of hypothyroidism prior to treatment...
August 29, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28842795/x-linked-hypomyelination-with-spondylometaphyseal-dysplasia-h-smd-associated-with-mutations-in-aifm1
#17
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
August 26, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28840064/polyostotic-craniofacial-fibrous-dysplasia-with-bizarre-radiologic-finding-mandible-anterior-skull-base-frontal-temporal-parietal-and-occipital-bones-involvement
#18
Alireza Tabibkhooei, Morteza Taheri, Sadra Rohani, Alireza Azimi
No abstract text is available yet for this article.
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28839487/computed-tomography-in-craniofacial-fibrous-dysplasia-a-case-series-with-review-of-literature-and-classification-update
#19
REVIEW
Deepak Gupta, Preeti Garg, Amit Mittal
INTRODUCTION: Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla...
2017: Open Dentistry Journal
https://www.readbyqxmd.com/read/28827057/ilizarov-hip-reconstruction-osteotomy-a-review
#20
Masood Umer, Talal Aqueel Quadri, Rizwan Haroon Rashid
Hip joint instability can be secondary to congenital hip pathologies like developmental dysplasia (DDH) or acquired such as sequel of infective or neoplastic process. An unstable hip is usually associated with loss of bone from the proximal femur, shortening, abnormal gait, and pain. Many authors have suggested proximal femoral valgus osteotomy for the treatment of unstable hip joints. Ilizarov modified this technique and performed a double-level osteotomy. In addition to proximal femoral valgus extension osteotomy, he introduced a distal femoral varus osteotomy which would lead to limb lengthening and correction of mechanical axis of the leg...
August 18, 2017: International Journal of Surgery
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