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https://www.readbyqxmd.com/read/28432392/rare-appearance-rare-location-and-unusual-patient-age-report-of-osteolytic-fibrous-dysplasia-in-the-temporal-bone-of-a%C3%A2-52-year-old-patient
#1
Viktor Pineker, Ewerton Marques Maggio, Alexander Huber, Athina Pangalu, Antonios Valavanis, Sebastian Winklhofer
No abstract text is available yet for this article.
April 21, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28431438/comparison-of-intact-parathyroid-hormone-alkaline-phosphatase-phosphate-levels-for-diagnosing-severe-metabolic-bone-disease-in-infants-with-severe-bronchopulmonary-dysplasia
#2
Erin K Tkach, Ammie M White, Kevin C Dysart, Brenda Waber, Ursula S Nawab, Huayan Zhang, Erik A Jensen
No abstract text is available yet for this article.
April 21, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28419360/p4ha1-mutations-cause-a-unique-congenital-disorder-of-connective-tissue-involving-tendon-bone-muscle-and-the-eye
#3
Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A Deardorff, Ronald D Cohn, Wendy O DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C Marini, Johanna Myllyharju, Carsten G Bönnemann
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness and bone dysplasia as well as high myopia, with evidence of clinical improvement of motor function over time in the surviving patient...
April 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28416826/-surgical-technique-and-early-clinical-outcomes-of-direct-anterior-approach-to-total-hip-arthroplasty
#4
M Lv, J Q Zhang, X S Wang, Y Huang, W Li, C Y Zhang
OBJECTIVE: To describe the surgical technique of direct anterior approach to total hip arthroplasty and to report the early clinical outcomes. METHODS: A series of 100 consecutive, unselected patients who had 116 primary total hip arthroplasty surgeries (16 bilateral) done through direct anterior approach from March 11 2015 to June 21 2016 was reviewed. There were 50 male patients and 50 female patients. The average patient age was 51 years, and the average body mass index was 24...
April 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28409229/sphenoid-dysplasia-in-neurofibromatosis-type-1-a-new-technique-for-repair
#5
Di Rocco Concezio, Samii Amir, Tamburrini Gianpiero, Massimi Luca, Giordano Mario
PURPOSE: Sphenoid bone dysplasia in neurofibromatosis type 1 is characterized by progressive exophthalmos and facial disfiguration secondary to herniation of meningeal and cerebral structures. We describe a technique for reconstruction of the sphenoid defect apt at preventing or correcting the ocular globe dislocation. METHODS: After placement of spinal cerebrospinal fluid drainage to reduce intracranial pressure, the temporal pole is posteriorly dislocated extradurally...
April 13, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28406943/defective-enamel-and-bone-development-in-sodium-dependent-citrate-transporter-nact-slc13a5-deficient-mice
#6
Armando R Irizarry, Guirui Yan, Qingqiang Zeng, Jonathan Lucchesi, Matthew J Hamang, Yanfei L Ma, James Xiaojun Rong
There has been growing recognition of the essential roles of citrate in biomechanical properties of mineralized tissues, including teeth and bone. However, the sources of citrate in these tissues have not been well defined, and the contribution of citrate to the regulation of odontogenesis and osteogenesis has not been examined. Here, tooth and bone phenotypes were examined in sodium-dependent citrate transporter (NaCT) Slc13a5 deficient C57BL/6 mice at 13 and 32 weeks of age. Slc13a5 deficiency led to defective tooth development, characterized by absence of mature enamel, formation of aberrant enamel matrix, and dysplasia and hyperplasia of the enamel organ epithelium that progressed with age...
2017: PloS One
https://www.readbyqxmd.com/read/28396070/novel-pathogenic-acan-variants-in-non-syndromic-short-stature-patients
#7
Xuyun Hu, Baoheng Gui, Jiasun Su, Hongdou Li, Niu Li, Tingting Yu, Qinle Zhang, Yufei Xu, Guoqiang Li, Yulin Chen, Yanrong Qing, Chuan Li, Jingsi Luo, Xin Fan, Yu Ding, Juan Li, Jian Wang, Xiumin Wang, Shaoke Chen, Yiping Shen
BACKGROUND: Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. A recent international cohort study significantly expanded the ACAN mutation spectrum, further delineated the heterogeneous clinical characteristics of ACAN mutation patients. The prevalence of ACAN mutation in short stature patients is yet unknown...
April 7, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28385932/can-we-predict-which-dysplastic-hips-will-require-acetabular-augmentation-during-total-hip-arthroplasty-based-on-pre-operative-radiographs
#8
A G Marsh, A Nisar, M El Refai, S Patil, R M D Meek
AIMS: The purpose of this study was to evaluate whether an innovative templating technique could predict the need for acetabular augmentation during primary total hip arthroplasty for patients with dysplastic hips. PATIENTS AND METHODS: We developed a simple templating technique to estimate acetabular component coverage at total hip arthroplasty, the True Cup: False Cup (TC:FC) ratio. We reviewed all patients with dysplastic hips who underwent primary total hip arthroplasty between 2005 and 2012...
April 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28385930/decreased-and-increased-relative-acetabular-volume-predict-the-development-of-osteoarthritis-of-the-hip-an-osteological-review-of-1090-hips
#9
D S Weinberg, D F K Williamson, M B Millis, R W Liu
AIMS: Recently, there has been considerable interest in quantifying the associations between bony abnormalities around and in the hip joint and osteoarthritis (OA). Our aim was to investigate the relationships between acetabular undercoverage, acetabular overcoverage, and femoroacetabular impingement (FAI) with OA of the hip, which currently remain controversial. MATERIALS AND METHODS: A total of 545 cadaveric skeletons (1090 hips) from the Hamann-Todd osteological collection were obtained...
April 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28374099/dalbergioidin-dal-protects-mc3t3-e1-osteoblastic-cells-against-h2o2-induced-cell-damage-through-activation-of-the-pi3k-akt-smad1-pathway
#10
Yu-Qin Jin, Jia-Ling Li, Jin-Dong Chen, Chang-Liang Xu, Huang Li
Reactive oxygen species (ROS) is a pivotal pathogenic factor in the development of osteoporosis. Dalbergioidin (DAL) can be isolated from Uraria crinite, an edible herb used as a natural food for childhood skeletal dysplasia. Recent research has implicated DAL as having an antiosteoporosis effect, although the mechanism of this is unclear. We used an effective oxidative stress model, induced by hydrogen peroxide (H2O2) in osteoblastic MC3T3-E1 cells, to investigate the protective effects of DAL in osteoporosis and the underlying molecular mechanisms...
April 3, 2017: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/28370186/neoplastic-pleural-effusion-and-intrathoracic-metastasis-of-a-scapular-osteosarcoma-in-a-dog-a-multidisciplinary-integrated-diagnostic-approach
#11
Luis Mesquita, Jeremy Mortier, Lorenzo Ressel, Riccardo Finotello, Paolo Silvestrini, Martina Piviani
A 10-year-old, female spayed mixed-breed or cross-bred dog was referred to the Small Animal Teaching Hospital of the University of Liverpool due to tachypnea, dyspnea, and pleural effusion not responding to diuretics and antibiotics. The chest was drained and cytology of the pleural fluid was consistent with a modified transudate with presence of atypical cells initially attributed to mesothelial hyperplasia and dysplasia. Computed tomography detected, in addition to the bilateral pleural effusion, diffuse pleural thickening, multiple pleural and pulmonary nodules, and a mineralized and lytic mass in the left scapula...
March 29, 2017: Veterinary Clinical Pathology
https://www.readbyqxmd.com/read/28365079/a-lateral-cephalometry-study-of-patients-with-neurofibromatosis-type-1
#12
Reinhard E Friedrich, Jan-Marten Lehmann, Jonathan Rother, Georg Christ, Christine Zu Eulenburg, Hannah T Scheuer, Hanna A Scheuer
PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant transmitted tumour suppressor syndrome and also a bone disease. Osseous dysplasia affecting the craniofacial region is characteristic of NF1. The aim of this study was to analyse the lateral cephalograms of NF1 patients in comparison to individuals who were not affected by this condition in order to describe the skeletal phenotype of NF1 in more detail. MATERIALS AND METHODS: The study comprises the lateral cephalograms of 172 patients with established NF1 diagnoses (female = 85, male = 87)...
February 20, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28346292/bilateral-labyrinthine-and-internal-auditory-canal-enhancement-in-an-infant-with-severe-labyrinthine-dysplasia-a-previously-unreported-phenomenon
#13
Charles L Anzalone, Mai Lan Ho, Neil S Patel, Lisa A Schimmenti, Melissa D DeJong, Matthew L Carlson
OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28346248/68ga-psma-pet-ct-in-osteosarcoma-in-fibrous-dysplasia
#14
Arun Sasikumar, Ajith Joy, M R A Pillai, Tony M Alex, Geetha Narayanan
Fibrous dysplasia (FD) is a benign bone lesion with a rare but potential for malignant transformation. Neither Tc-MDP nor F-FDG PET/CT can differentiate between FD and areas of malignant transformation in FD. We described a case of osteosarcoma developing in FD with selective uptake of tracer in malignant transformation areas demonstrated on a Ga-PSMA PET/CT scan. Our case highlights the ability of Ga-PSMA PET/CT to map tumor neoangiogenesis in osteosarcoma arising in FD, which can have potential implications in prognostication, possibility of antiangiogenesis-based therapeutic options, and in response assessment following chemotherapy...
March 24, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28342220/prenatal-course-of-metaphyseal-anadysplasia-associated-with-homozygous-mutation-in-mmp9-identified-by-exome-sequencing
#15
Reuven Sharony, Zvi Borochowitz, Lior Cohen, Atalia Storch, Revital Rosenfeld, Shira Modai, Eyal Reinstein
Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in only one consanguineous family, and thus the pre and postnatal phenotypic spectrum is still obscure. A clinically similar but more severe type is caused by autosomal-dominant inheritance and is caused by mutations in matrix metalloproteinase type 13 gene (MMP13)(...
March 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28341489/automatic-evaluation-of-scan-adequacy-and-dysplasia-metrics-in-2-d-ultrasound-images-of-the-neonatal-hip
#16
Niamul Quader, Antony J Hodgson, Kishore Mulpuri, Emily Schaeffer, Rafeef Abugharbieh
Ultrasound (US) imaging of an infant's hip joint is widely used for early detection of developmental dysplasia of the hip. In current US-based diagnosis of developmental dysplasia of the hip, trained clinicians acquire US images and, if they judge them to be adequate (i.e., to contain relevant hip joint structures), analyze them manually to extract clinically useful dysplasia metrics. However, both the scan adequacy classification and dysplasia metrics extraction steps exhibit significant variability within and between both clinicians and institutions, which can result in significant over- and undertreatment rates...
March 21, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28337224/gut-mesenchymal-stromal-cells-in-immunity
#17
REVIEW
Valeria Messina, Carla Buccione, Giulia Marotta, Giovanna Ziccheddu, Michele Signore, Gianfranco Mattia, Rossella Puglisi, Benedetto Sacchetti, Livia Biancone, Mauro Valtieri
Mesenchymal stromal cells (MSCs), first found in bone marrow (BM), are the structural architects of all organs, participating in most biological functions. MSCs possess tissue-specific signatures that allow their discrimination according to their origin and location. Among their multiple functions, MSCs closely interact with immune cells, orchestrating their activity to maintain overall homeostasis. The phenotype of tissue MSCs residing in the bowel overlaps with myofibroblasts, lining the bottom walls of intestinal crypts (pericryptal) or interspersed within intestinal submucosa (intercryptal)...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28336192/radiological-morphology-variances-of-transient-osteoporosis-of-the-hip
#18
Ryosuke Yamaguchi, Takuaki Yamamoto, Goro Motomura, Satoshi Ikemura, Kenyu Iwasaki, Garida Zhao, Yukihide Iwamoto
BACKGROUND: Although several morphological abnormalities or variances of the hip joint have been proposed to be associated with hip joint degeneration, few studies have investigated any radiological features in patients with transient osteoporosis of the hip (TOH). The purpose of this study is to evaluate the morphological variances of the hip joint in TOH patients radiographically. METHODS: The TOH group consisted of 31 hips in 31 patients. Age- and gender-matched asymptomatic hips in patients with unilateral osteonecrosis of the femoral head were served as controls...
March 20, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#19
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
BACKGROUND/AIM: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
March 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28332125/osteoarthritis-of-the-hip-joint-in-elderly-patients-is-most-commonly-atrophic-with-low-parameters-of-acetabular-dysplasia-and-possible-involvement-of-osteoporosis
#20
Yasuhiro Ishidou, Kanehiro Matsuyama, Daisuke Sakuma, Takao Setoguchi, Satoshi Nagano, Ichiro Kawamura, Shingo Maeda, Setsuro Komiya
As elderly patients with hip osteoarthritis aged, acetabular dysplasia parameters decreased (Sharp's angle, acetabular roof obliquity angle, and acetabular head index) and the incidence of the atrophic type increased. Vertebral body fracture was more frequent in the atrophic type, suggesting the involvement of osteoporosis at the onset of hip osteoarthritis. INTRODUCTION: Osteoarthritis (OA) is associated with increased bone formation at a local site. However, excessive bone resorption has also been found to occur in the early stages of OA...
December 2017: Archives of Osteoporosis
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