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https://www.readbyqxmd.com/read/30101361/unilateral-uniplanar-modular-external-fixator-for-percutaneous-proximal-femoral-osteotomy-in-children-surgical-technique
#1
Valentino Coppa, Mario Marinelli, Nicola Specchia
Varus derotation femoral osteotomy (VDFO) is a commonly used surgical procedure in association with pelvic osteotomy for dislocated hip in developmental hip dysplasia. Several types of internal fixation devices were described in the literature, but none of them showed a superiority or a lower rate of complication over the others. Different types of external fixator were also described for proximal osteotomy fixation with good results. We describe the surgical technique of the VDFO using a modular external fixator with an illustrative case...
August 12, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/30098433/oxidative-stress-and-bronchopulmonary-dysplasia
#2
REVIEW
Junyi Wang, Wenbin Dong
With the progress of modern medicine, oxygen therapy has become a crucial measure for the treatment of premature infants. As an environmental stimulus, in the normal development of lungs, oxygen plays a very important regulatory role. However, the problem is that long-term exposure to hyperoxia can interfere with the development of lungs, leading to irreversible developmental abnormalities. Now, the incidence of bronchopulmonary dysplasia (BPD) is increasing year by year. The existing related research shows that although BPD is a multi-factor triggered disease, its main risk factors are the premature exposure to hyperoxia and the role of reactive oxygen species (ROS)...
August 8, 2018: Gene
https://www.readbyqxmd.com/read/30094151/modified-shelf-acetabuloplasty-endoscopic-procedure-with-allograft-for-developmental-hip-dysplasia-treatment
#3
David R Maldonado, Victor Ortiz-Declet, Austin W Chen, Ajay C Lall, Mitchell R Mohr, Joseph R Laseter, Benjamin G Domb
Hip dysplasia has been identified as one of the leading causes of osteoarthritis. However, hip arthroscopy alone, in the setting of hip dysplasia, remains controversial. In borderline hip dysplasia, with lateral center-edge angle (LCEA) between 18° and 25°, good outcomes have been reported with appropriate capsular and labral management. However, in severe hip dysplasia, with LCEA below 18°, there is an acetabular bony structural deficiency that must be addressed. Even with the potential benefit of hip arthroscopy in addressing intra-articular injuries related to the instability, it cannot be used for soft-tissue procedures...
July 2018: Arthroscopy Techniques
https://www.readbyqxmd.com/read/30087565/prereduction-traction-for-the-prevention-of-avascular-necrosis-before-closed-reduction-for-developmental-dysplasia-of-the-hip-a-meta-analysis
#4
Kun-Bo Park, Viranchi Narendra Vaidya, Hyejung Shin, Yoon Hae Kwak
Background and purpose: Avascular necrosis (AVN) is one of the common complications after closed reduction and hip spica cast for developmental dysplasia of the hip (DDH). Prereduction traction has been used to reduce a dislocated hip or decrease the risk of AVN, but there are conflicting results in prevention effects on AVN. The purpose of this study was to systematically review the current literature and evaluate the effect of prereduction traction in preventing AVN in children with DDH treated by closed reduction through a meta-analysis...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/30087272/clinical-and-functional-characterization-of-the-recurrent-tuba1a-p-arg2his-mutation
#5
Jennifer F Gardner, Thomas D Cushion, Georgios Niotakis, Heather E Olson, P Ellen Grant, Richard H Scott, Neil Stoodley, Julie S Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M Palmer-Smith, Hood Mugalaasi, Jonathan G L Mullins, Daniela T Pilz, Andrew E Fry
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and cortical organisation. Mutations in TUBA1A have been reported to cause a range of brain malformations. We describe four unrelated patients with the same de novo missense mutation in TUBA1A , c.5G>A, p.(Arg2His), as found by next generation sequencing...
August 7, 2018: Brain Sciences
https://www.readbyqxmd.com/read/30084155/line-and-alu-containing-genomic-instability-hotspotat-16q24-1-associated-with-recurrent-and-nonrecurrent-cnv-deletionscausative-for-acdmpv
#6
Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A Karolak, Lauren Currie, Sandhya Parkash, Stephen G Kahler, Elizabeth Roeder, Rebecca O Littlejohn, Thomas S DeNapoli, Felix R Shardonofsky, Cody Henderson, George Powers, Virginie Poisson, Denis Bérubé, Luc Oligny, Jacques L Michaud, Sandra Janssens, Kris De Coen, Jo Van Dorpe, Annelies Dheedene, Matthew T Harting, Matthew D Weaver, Amir M Khan, Nina Tatevian, Jennifer Wambach, Kathleen A Gibbs, Edwina Popek, Anna Gambin, Paweł Stankiewicz
Transposable elements modify human genome by inserting into new loci or by mediating homology-, microhomology-, or homeology-driven DNA recombination or repair, resulting in genomic structural variation. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, lethal, neonatal developmental lung disorder caused by point mutations or copy-number variant (CNV) deletions of FOXF1 or its distant tissue specific enhancer. Eighty five per cent of 45ACDMPV-causative CNV deletions, of which junctions have been sequenced, had at least one of their two breakpoints located in a retrotransposon, with more than half of them being Alu elements...
August 6, 2018: Human Mutation
https://www.readbyqxmd.com/read/30083489/pericallosal-lipoma-and-cortical-dysplasia-masquerading-as-a-glioma
#7
Brian L Anderson, Michael Sather, Jennifer Baccon, Krishnamoorthy Thamburaj
Intracranial lipomas represent approximately 1% of intracranial lesions generally felt to represent the abnormal persistence of the meninx primitiva and are commonly accompanied by various developmental brain abnormalities. We report a case of midline intracranial lipoma and evolving frontal lobe fluid-attenuated inversion recovery (FLAIR) abnormality concerning for glial neoplasm in a patient with intractable epilepsy. Our case shows evolving magnetic resonance imaging (MRI) features over two decades raising suspicion for low-grade neoplasm which was ultimately found to represent cortical dysplasia...
June 1, 2018: Curēus
https://www.readbyqxmd.com/read/30078895/results-of-crowe-type-iv-developmental-dysplasia-of-hip-treated-by-subtrochantric-osteotomy-and-total-hip-arthroplasty
#8
Murat Altay, İsmail Demirkale, Mehmet Faruk Çatma, Hakan Şeşen, Serhan Ünlü, Mert Karaduman
Background: Crowe type IV developmental dysplasia of hip (DDH), subtrochanteric shortening osteotomy is required to restore the hip joint. Several approaches have been described for subtrochanteric shortening osteotomy. Several osteotomy fixation techniques have been defined for Crowe type IV DDH. This study evaluates the outcomes of subtrochanteric shortening osteotomy fixed with a combination of split onlay autograft and distal fluted femoral stem. Materials and Methods: A retrospective study was carried out on 41 hips of 37 patients treated with total hip replacement for Crowe type IV developmental dysplasia of the hip by subtrochanteric transverse osteotomy and fixed with split intercalary autograft by two cables...
July 2018: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/30078244/-spondyloenchondrodysplasia-with-immune-dysregulation-a-case-report-and-literature-review
#9
L Q Zhong, L Wang, H M Song, W Wang, M Wei, Y Y He
Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods: The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who was admitted to the Department of Pediatrics in Peking Union Medical College Hospital in October 2016 were analyzed. Then literature review was done after searching articles in PubMed and several Chinese databases with the key words "spondyloenchondrodysplasia with immune dysregulation" up to the date of November 2017...
August 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/30076476/closed-reduction-and-dynamic-cast-immobilization-in-patients-with-developmental-dysplasia-of-the-hip-between-6-and-24-months-of-age
#10
YiQiang Li, QingHe Zhou, Yuanzhong Liu, WeiDong Chen, JingChun Li, Federico Canavese, HongWen Xu
BACKGROUND: Closed reduction and spica cast is still the preferred treatment option for children presenting with developmental dysplasia of the hip (DDH) after the age of 6 months. This study aims to investigate the outcomes of patients with DDH treated by closed reduction and dynamic cast immobilization. METHODS: In total, 159 patients (mean age 15.6 ± 4.2 months; 172 hips) were treated with a dynamic cast immobilization for 3 months, followed by an abduction brace until a stable concentric reduction was achieved...
August 3, 2018: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/30062924/association-between-periacetabular-osteotomy-and-hip-dysplasia-among-relatives-a-cross-sectional-study
#11
Pernille O Simonsen, Jens M Herts, Kjeld Søballe, Inger Mechlenburg
INTRODUCTION: Previous studies indicate a familial predisposition for developmental dysplasia of the hip (DDH), especially among first-degree relatives. This study investigated the association between unilateral or bilateral periacetabular osteotomy (PAO), family history of DDH and the degree of relationship with relatives with DDH. MATERIAL AND METHODS: This cross-sectional study consisted of 815 consecutive patients undergoing PAO from 1998 to 2016. Information regarding unilateral or bilateral PAO, gender and age at the time of surgery was obtained from the clinical PAO database at Aarhus University Hospital, Denmark...
July 31, 2018: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/30059550/the-influence-of-health-policy-on-early-diagnosis-and-surgical-incidence-of-developmental-dysplasia-of-the-hip
#12
Chia H Chang, Yi-Ting Chiang, Likwang Chen, Ken N Kuo
BACKGROUND: Hip screening is the standard approach for the early detection of developmental dysplasia of the hip (DDH). However, there is a lack of evidence regarding the effects of national policy on early diagnosis and later surgical incidence. The purpose of this national study is to estimate DDH incidence in the Taiwanese population through a new diagnosis definition and to examine whether a health promotion policy could reduce surgeries for DDH. METHODS AND RESULTS: Six birth-year cohorts (2000-2005) were evaluated for DDH diagnosis and related surgeries using the database of the National Health Insurance Administration, which covers 99% of the population of Taiwan...
2018: PloS One
https://www.readbyqxmd.com/read/30057722/short-term-outcomes-of-one-stage-bilateral-total-hip-arthroplasty-in-young-patients-30-years-old
#13
Afshin Taheriazam, Amin Saeidinia
Total hip arthroplasty is one of the best treatments for restoring function and activity in young patients with advanced joint diseases. One-Stage Bilateral Total Hip Arthroplasty (BTHA) offers many advantages, which are important to younger patients and diminished costs and time in comparison with sequential THA. There is currently much concern about the safety of this procedure. The current study was designed to provide more information regarding THA in patients aged 30 years old or younger. Between April 2010 and September 2015, arthroplasty procedures were performed on 180 patients at the surgical centers of Erfan and Milad, Tehran, Iran...
June 14, 2018: Orthopedic Reviews
https://www.readbyqxmd.com/read/30056563/patchy-increased-echogenicity-a-sonographic-sign-of-femoral-head-necrosis-following-reduction-and-casting-for-developmental-dysplasia-of-the-hip
#14
Brian Po-Jung Chen, H Theodore Harcke, J Richard Bowen
A developmental dysplasia of the hip (DDH) case treated by closed reduction and casting and subsequently confirmed to have avascular necrosis (AVN) was retrospectively noted to have an abnormal pattern of echogenicity in the femoral head on sonograms obtained within 1.5 months of surgery. Patchy increased echogenicity in parts of the unossified cartilage replaced the normal pattern of central coalescence of vessels described with development of the ossification center. An additional case with similar findings confirms this should be considered a sign of evolving AVN following closed reduction...
July 28, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/30056201/meningioangiomatosis-a-review-of-the-variable-manifestations-and-complex-pathophysiology
#15
REVIEW
Christine Tomkinson, Jian-Qiang Lu
Meningioangiomatosis (MA) is a rare, complex and heterogeneous disease of meningovascular proliferation that is found primarily in the leptomeninges and cerebral cortex but can involve subcortical white matter and other brain regions such as the cerebellum and deep gray matter. MA may be found in pediatric or adult populations and may be sporadic or neurofibromatosis-associated. The presentation of MA is highly variable: it may be associated with other neurological diseases; clinically presents on a spectrum from asymptomatic to seizures or focal deficits; radiologically presents with multifocal, tumor-like, or cystic lesions, or may appear normal; and pathologically may have cellular or vascular predominance...
July 24, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30051459/mechanistic-insights-into-the-cellular-effects-of-a-novel-fn1-variant-associated-with-a-spondylometaphyseal-dysplasia
#16
Eli B Cadoff, Ruth Sheffer, Shlomo Wientroub, Dror Ovadia, Vardiella Meiner, Jean E Schwarzbauer
Spondylometaphyseal dysplasia (SMD) is characterized by developmental changes in long bones and vertebrae. It has large phenotypic diversity and multiple genetic causes, including a recent link to novel variants in the extracellular matrix (ECM) protein fibronectin (FN), a regulator of ECM assembly and key link between the ECM and proper cell function. We identified a patient with a unique SMD, similar to SMD with corner fractures. The patient has been followed over 19 years and presents with short stature, genu varum, kyphoscoliosis, and pectus carinatum...
July 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30048676/notch-signaling-in-human-ips-derived-neuronal-progenitor-lines-from-focal-cortical-dysplasia-patients
#17
F Majolo, D R Marinowic, D C Machado
Focal Cortical Dysplasia (FCD), a common type of Malformations of cortical development, may result from an early disturbance in the migration and final arrangement of the cortical architecture of immature neurons. FCD type II is now known to be due to a post-zygotic somatic mutation that involves the mTOR and AKT pathways. The aim of the present study was to investigate the possible differences in neurogenesis and neurodifferentiation of iPSCs (induced pluripotent stem cells) from fibroblasts of individuals affected by FCD type II (2) and normal individuals (2)...
July 23, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/30039845/uncommon-ifitm5-mutation-associated-with-severe-skeletal-deformity-in-osteogenesis-imperfecta
#18
Mercedes Rodriguez Celin, Shahida Moosa, Virginia Fano
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Since 2012, a single recurrent heterozygous mutation in IFITM5 (c...
July 24, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/30037582/altered-biomechanical-stimulation-of-the-developing-hip-joint-in-presence-of-hip-dysplasia-risk-factors
#19
Stefaan W Verbruggen, Bernhard Kainz, Susan C Shelmerdine, Owen J Arthurs, Joseph V Hajnal, Mary A Rutherford, Andrew T M Phillips, Niamh C Nowlan
Fetal kicking and movements generate biomechanical stimulation in the fetal skeleton, which is important for prenatal musculoskeletal development, particularly joint shape. Developmental dysplasia of the hip (DDH) is the most common joint shape abnormality at birth, with many risk factors for the condition being associated with restricted fetal movement. In this study, we investigate the biomechanics of fetal movements in such situations, namely fetal breech position, oligohydramnios and primiparity (firstborn pregnancy)...
July 20, 2018: Journal of Biomechanics
https://www.readbyqxmd.com/read/30034439/presentation-and-management-of-neglected-developmental-dysplasia-of-hip-ddh-8-years-experience-with-single-stage-triple-procedure-at-national-institute-of-rehabilitation-medicine-islamabad-pakistan
#20
Farid Ullah Khan Zimri, Syed Shujaat Ali Shah, Muhammad Saaiq, Faisal Qayyum, Muhammad Ayaz
Objective: To document the clinical presentation of neglected DDH and evaluate the outcome of triple procedure. Methods: It was a descriptive case series study, conducted at the Department of Orthopedic Surgery, National Institute of Rehabilitation Medicine (NIRM), Islamabad over a period of 8-years. It included children aged >1 and <9 years who underwent the triple procedure of open reduction, femoral shortening and Salter's osteotomy. Clinical evaluation was performed using McKay's criteria...
May 2018: Pakistan Journal of Medical Sciences Quarterly
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