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https://www.readbyqxmd.com/read/28301321/giant-parathyroid-adenoma-associated-with-severe-hypercalcemia-in-an-adolescent-patient
#1
Kinyas Kartal, Nurcihan Aygun, Mujdat Bankaoglu, Alper Ozel, Mehmet Uludag
BACKGROUND: The objective of this study is to bring attention to the importance of differential diagnosis in adolescent patients with skeletal involvement and hypercalcemia. CASE: A 17-year-old male patient with a complaint of severe leg pain was admitted to our hospital. Seven months before he had a fracture of his distal humerus after falling on to his left shoulder and was treated conservatively. Five months previously, he had a rupture of his quadriceps tendon...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28299386/high-rate-of-recurrent-patellar-dislocation-in-skeletally-immature-patients-a-long-term-population-based-study
#2
Thomas L Sanders, Ayoosh Pareek, Timothy E Hewett, Michael J Stuart, Diane L Dahm, Aaron J Krych
PURPOSE: Patellar dislocation can occur in isolation or be associated with chronic instability. The goals of this study are to describe the rate and factors associated with additional patellar instability events (ipsilateral recurrence and contralateral dislocation), as well as the development of patellofemoral arthritis in patients who are skeletally immature at the time of first patellar dislocation. METHODS: The study included a population-based cohort of 232 skeletally immature patients who experienced a first-time lateral patellar dislocation between 1990 and 2010...
March 15, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28289785/-incidental-findings-in-musculoskeletal-radiology
#3
F Wünnemann, C Rehnitz, M-A Weber
BACKGROUND: Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists. OBJECTIVE: Description of common incidental findings in musculoskeletal imaging and their clinical classification...
March 13, 2017: Der Radiologe
https://www.readbyqxmd.com/read/28278379/tibial-tuberosity-anteromedialization-for-patellofemoral-chondral-disease
#4
Federica Rosso, Roberto Rossi, Giorgio Governale, Antongiulio Marmotti, Valeria Cherubini, Umberto Cottino, Davide Edoardo Bonasia
BACKGROUND: Tibial tuberosity anteromedialization (TTA) is a well-established treatment option for patellofemoral chondral disease that is resistant to nonoperative treatment. However, the prognostic factors of this procedure are unknown. PURPOSE: To analyze the prognostic factors correlated with the midterm outcomes of TTA for patellofemoral chondral disease and determine the survivorship. STUDY DESIGN: Case series; Level of evidence, 4. METHODS: Indications of TTA for chondral disease included skeletal maturity, age <65 years, <grade 3 Kellgren-Lawrence degeneration, and isolated patellofemoral pain for ≥6 months despite nonoperative treatment...
March 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28273704/-clinical-and-genetic-characteristics-of-children-with-leigh-syndrome
#5
F Fang, Y Shen, D M Shen, Z M Liu, C H Ding, W C Zhang, S Z Sun, J L Lyu, T L Han, X H Wang, W H Zhang, X Y Yang, J W Li, H S Wu
Objective: To investigate the clinically and genetic characteristics of children with Leigh syndrome. Method: Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children's Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed...
March 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28272537/mutations-in-the-pcyt1a-gene-are-responsible-for-isolated-forms-of-retinal-dystrophy
#6
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi
Mutations in the PCYT1A gene have been recently linked to two different phenotypes: one characterized by spondylometaphyseal dysplasia and cone-rod dystrophy (SMD-CRD) and the other by congenital lipodystrophy, severe fatty liver disease, and reduced HDL cholesterol without any retinal or skeletal involvement. Here, we identified, by next generation sequencing, sequence variants affecting function in the PCYT1A gene in three young patients with isolated retinal dystrophy from two different Italian families...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28263186/loss-of-ddrgk1-modulates-sox9-ubiquitination-in-spondyloepimetaphyseal-dysplasia
#7
Adetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, David S Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T Lu, Lisette Nevarez, Nurit Magal, Annick Raas-Rothschild, Eric C Swindell, Daniel H Cohn, Richard A Gibbs, Philippe M Campeau, Mordechai Shohat, Brendan H Lee
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development and led to decreased levels of the chondrogenic master transcription factor sox9 and its downstream target, col2a1...
March 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28253570/-clinical-analysis-of-21-cases-with-short-fetal-femur-in-the-third-trimester
#8
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu
Objective: To analyze the clinical features and to explore the etiology of short fetal femur during the third trimester. Methods: From January 2010 to June 2016, 21 singleton pregnancies with short fetal femur detected by ultrasonography during the third trimester were referred to the Chinese PLA General Hospital. Clinical data were collected, karyotype or single nucleotide polymorphism microarray was carried out to detect chromosomal abnormalities, and FGFR3 c.1138G>A mutation detection was carried out to detect achondroplasia (ACH) via invasive procedure, respectively...
February 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28249712/genetically-confirmed-thanatophoric-dysplasia-with-fibroblast-growth-factor-receptor-3-mutation
#9
Minsun Jung, Sung-Hye Park
Thanatophoric dysplasia (TD), the most common lethal skeletal dysplasia, is a de novo genetic disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. "Thanatophoric" means "dead bearing" in Greek. Because FGFR3 is the main modulator of bone maturation, typical features of TD include short extremities, curved femur, clover-leaf skull, small narrow chest, and platyspondyly. TD can be classified into two subgroups according to the morphologic findings, with prominent curved femur suggesting type I TD (TD 1) and with marked clover-leaf skull and relatively straight long bones, favoring type II TD (TD 2)...
February 27, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28246877/anatomic-patellar-instability-risk-factors-in-primary-lateral-patellar-dislocations-do-not-predict-injury-patterns-an-mri-based-study
#10
Marc A Tompkins, Sara R Rohr, Julie Agel, Elizabeth A Arendt
PURPOSE: The primary goal was to describe the injury patterns in a population of primary (first time) lateral patellar dislocators (LPD) to lend clarity to commonly held notions about injury patterns in this population. METHODS: A prospective study identifying patients presenting with LPD between 2008 and 2012. Inclusion criteria were a history and physical exam consistent with primary LPD, and an MRI consistent with the diagnosis without other significant ligamentous injury...
February 28, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28239978/sleep-disordered-breathing-and-its-management-in-children-with-achondroplasia
#11
Rossana Tenconi, Sonia Khirani, Alessandro Amaddeo, Caroline Michot, Geneviève Baujat, Vincent Couloigner, Livio De Sanctis, Syril James, Michel Zerah, Valérie Cormier-Daire, Brigitte Fauroux
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA)...
February 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28231652/fibrous-dysplasia-in-the-epiphysis-of-the-distal-femur
#12
Jung Ho Noh, Jae Woo Lee
Fibrous dysplasia is a common benign skeletal lesion that may involve a single bone or multiple bones. Although fibrous dysplasia can affect any bone, monostotic fibrous dysplasia of the long bone typically occurs in the diaphysis or metaphysis. We report a very rare case of monostotic fibrous dysplasia involving the epiphysis of the distal femur in a young man.
March 1, 2017: Knee Surgery & related Research
https://www.readbyqxmd.com/read/28230213/knock-in-human-fgfr3-achondroplasia-mutation-as-a-mouse-model-for-human-skeletal-dysplasia
#13
Yi-Ching Lee, I-Wen Song, Ya-Ju Pai, Sheng-De Chen, Yuan-Tsong Chen
Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the endogenous mouse Fgfr3 gene was replaced with human FGFR3(G380R) (FGFR3(ACH)) cDNA, the most common mutation in human ACH...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#14
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28224446/current-care-and-investigational-therapies-in-achondroplasia
#15
REVIEW
Sheila Unger, Luisa Bonafé, Elvire Gouze
PURPOSE OF REVIEW: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery...
February 21, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28224438/ultrasound-diagnosis-of-fetal-thanatophoric-skeletal-dysplasia-three-cases-report-and-a-brief-review
#16
Qing-Hong Zhao, Hua Shi, Jia-Qi Hu, Dan Wang, Gui Fang, Yu-Guo Zhang, Yan-Qing Wang, Jing Yang
Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system...
February 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28220182/retrospective-25-year-follow-up-of-treatment-outcomes-in-angle-class-iii-patients-early-versus-late-treatment
#17
B Wendl, A P Muchitsch, H Winsauer, A Walter, H Droschl, N Jakse, M Wendl, T Wendl
OBJECTIVES: To assess early versus late treatment of Class III syndrome for skeletal and dental differences. METHODS: Thirty-eight Class III patients treated with a chincup were retrospectively analyzed. Baseline data were obtained by reviewing pretreatment (T0) anamnestic records, cephalograms, and casts. The cases were assigned to an early or a late treatment group based on age at T0 (up to 9 years or older than 9 years but before the pubertal growth spurt)...
February 20, 2017: Journal of Orofacial Orthopedics, Fortschritte der Kieferorthopädie
https://www.readbyqxmd.com/read/28209013/identifying-aarskog-syndrome
#18
Anis Ahmed, Abdullah Mufeed, Ashir Kolikkal Ramachamparambathu, Umer Hasoon
Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. This is a case report of a 15-year-old male patient who visited our college complaining of poor facial aesthetics. History revealed consanguinity and his sibling to be suffering from the same. A diagnosis of Aarskog syndrome was made based upon the detailed patient history, thorough clinical evaluation and identification of characteristic findings in radiographs...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28186356/bone-robusticity-in-two-distinct-skeletal-dysplasias-diverges-from-established-patterns
#19
Kate Citron, Cosmo Veneziale, Josephine Marino, Erin M Carter, Karl J Jepsen, Cathleen Raggio
Achondroplasia is a heritable disorder of endochondral bone formation characterized by disproportionate short stature. Osteogenesis imperfecta is a heritable bone and connective tissue disorder characterized by bone fragility. To investigate bone morphology of these groups, we retrospectively reviewed 169 de-identified bone age films from 20 individuals with achondroplasia, 39 individuals with osteogenesis imperfecta and 37 age- and sex-matched controls (matched to historical measurements from the Bolton-Brush Collection)...
February 10, 2017: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/28182776/prospects-and-limitations-of-improving-skeletal-growth-in-a-mouse-model-of-spondyloepiphyseal-dysplasia-caused-by-r992c-p-r1192c-substitution-in-collagen-ii
#20
Machiko Arita, Jolanta Fertala, Cheryl Hou, James Kostas, Andrzej Steplewski, Andrzej Fertala
Skeletal dysplasias form a group of skeletal disorders caused by mutations in macromolecules of cartilage and bone. The severity of skeletal dysplasias ranges from precocious arthropathy to perinatal lethality. Although the pathomechanisms of these disorders are generally well defined, the feasibility of repairing established aberrant skeletal tissues that developed in the presence of mutant molecules is currently unknown. Here, we employed a validated mouse model of spondyloepiphyseal dysplasia (SED) that enables temporal control of the production of the R992C (p...
2017: PloS One
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