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Developmental dysplasia

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https://www.readbyqxmd.com/read/30550509/bone-maturation-of-mri-residual-developmental-dysplasia-of-the-hip-with-discrepancy-between-osseous-and-cartilaginous-acetabular-index
#1
Paul Walbron, Florence Müller, Laurence Mainard-Simard, Amandine Luc, Pierre Journeau
Quality of spontaneous amelioration of residual developmental dysplasia of the hip (DDH) is nowadays not possible to predict. Normal age-related values of the osseous acetabular index (OAI), cartilaginous acetabular index and labral acetabular index have been established on MRI. In this study, MRI of dysplastic hips has been evaluated, and further osseous acetabular maturation was followed-up over time on pelvic radiography to find a correlation between MRI findings and radiological evolution. This is a retrospective single-centre study...
December 13, 2018: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/30545934/structure-activation-and-dysregulation-of-fibroblast-growth-factor-receptor-kinases-perspectives-for-clinical-targeting
#2
REVIEW
Brendan Farrell, Alexander L Breeze
The receptor tyrosine kinase family of fibroblast growth factor receptors (FGFRs) play crucial roles in embryonic development, metabolism, tissue homeostasis and wound repair via stimulation of intracellular signalling cascades. As a consequence of FGFRs' influence on cell growth, proliferation and differentiation, FGFR signalling is frequently dysregulated in a host of human cancers, variously by means of overexpression, somatic point mutations and gene fusion events. Dysregulation of FGFRs is also the underlying cause of many developmental dysplasias such as hypochondroplasia and achondroplasia...
December 13, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/30537558/sclerosing-bone-dysplasias-with-hallmarks-of-dysosteosclerosis-in-four-patients-carrying-mutations-in-slc29a3-and-tcirg1
#3
Antonia Howaldt, Sheela Nampoothiri, Lisa-Marie Quell, Ayse Ozden, Björn Fischer-Zirnsak, Corinne Collet, Marie-Christine de Vernejoul, Hakan Döneray, Hülya Kayserili, Uwe Kornak
The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. The long bone phenotypes were discordant with one patient showing modeling defects and patchy osteosclerosis, while the second displayed only metaphyseal sclerotic bands, and the third and fourth had extreme metaphyseal flaring with uniform osteosclerosis...
December 8, 2018: Bone
https://www.readbyqxmd.com/read/30534545/one-stage-hip-reconstruction-for-developmental-hip-dysplasia-in-children-over-8-years-of-age
#4
Irfan Qadir, Saeed Ahmad, Atiq Uz Zaman, Chirag Muhammad Khan, Shahzad Ahmad, Amer Aziz
Purpose: This study was performed to assess the clinical and radiological outcomes following one-stage hip reconstruction, consisting of open reduction femoral shortening and pelvic osteotomy, for neglected developmental dislocation of the hip (DDH). Materials and Methods: This is a retrospective analysis of 77 hips in 65 patients (46 females and 19 males; 12 had bilateral dislocations), operated at a Ghurki Trust Teaching Hospital in Pakistan between 2013 and 2015...
December 2018: Hip & Pelvis
https://www.readbyqxmd.com/read/30533532/reactive-oxygen-species-biomarkers-of-microvascular-maturation-and-alveolarization-and-antioxidants-in-oxidative-lung-injury
#5
Arwin M Valencia, Maria A Abrantes, Jamal Hasan, Jacob V Aranda, Kay D Beharry
The lungs of extremely low gestational age neonates (ELGANs) are deficient in pulmonary surfactant and are incapable of efficient gas exchange necessary for successful transition from a hypoxic intrauterine environment to ambient air. To improve gas exchange and survival, ELGANs often receive supplemental oxygen with mechanical ventilation which disrupts normal lung developmental processes, including microvascular maturation and alveolarization. Factors that regulate these developmental processes include vascular endothelial growth factor and matrix metalloproteinases, both of which are influenced by generation of oxygen byproducts, or reactive oxygen species (ROS)...
November 2018: Reactive Oxygen Species (Apex, N.C.)
https://www.readbyqxmd.com/read/30531097/-function-of-synaptic-vesicle-protein-2a-sv2a-as-a-novel-therapeutic-target-for-epilepsy
#6
Kentaro Tokudome, Saki Shimizu, Tadao Serikawa, Yukihiro Ohno
Epilepsy is a chronic neurologic disease characterized by recurrent seizures, affecting nearly 1% of the population. Synaptic vesicle protein 2A (SV2A) is a membrane protein specifically expressed in synaptic vesicles and is now implicated in the pathogenesis of epileptic disorders. This is because 1) Sv2a-knockout mice exhibit severe seizures, 2) SV2A serves as a specific binding site for certain antiepileptics (e.g., levetiracetam and its analogues) and 3) the SV2A expression changes under various epileptic conditions both in animals (e...
2018: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
https://www.readbyqxmd.com/read/30526178/suggestion-for-new-4-4-mm-pubo-femoral-distance-cut-off-value-for-hip-instability-in-lateral-position-during-ddh-screening
#7
Hans-Christen Husum, Michel B Hellfritzsch, Nina Hardgrib, Bjarne Møller-Madsen, Ole Rahbek
Background and purpose - Current selective screening algorithms for developmental dysplasia of the hip (DDH) are insufficient. Universal screening programs have been proposed but so far have been deemed too expensive and time consuming. The pubo-femoral distance may solve this problem as a quick, low-cost, highly sensitive, and specific sonographic measurement for DDH, but this has only been validated in the supine position. Therefore we validated pubo-femoral distance (PFD) in the lateral position as an indicator for instability of the hip...
December 10, 2018: Acta Orthopaedica
https://www.readbyqxmd.com/read/30514997/an-infant-with-neonatal-diabetes-and-double-outlet-right-ventricle-wolcott-rallison-syndrome
#8
Ramush Bejiqi, Ragip Retkoceri, Naim Zeka, Rinor Bejiqi, Samir Bejic
Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate...
October 2018: Medical Archives
https://www.readbyqxmd.com/read/30511388/a-genome-wide-association-study-identifies-new-genes-associated-with-developmental-dysplasia-of-the-hip
#9
Wenjin Yan, Zheng Hao, Shuyan Tang, Jin Dai, Liming Zheng, Pengjun Yu, Wenqiang Yan, Xiao Han, Xingquan Xu, Dongquan Shi, Shiro Ikegawa, Huajian Teng, Qing Jiang
Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P< 0...
December 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30510951/giant-monostotic-osteofibrous-dysplasia-of-the-ilium-a-case-report-and-review-of-literature
#10
Yu-Bo Liu, Tian-Ming Zou
BACKGROUND: Osteofibrous dysplasia (OFD) is a developmental skeletal disorder, and cases with a giant affected area in the pelvis are rare. CASE SUMMARY: In this case report, a 48-year-old man presented with a large tumor in the right iliac region that turned out to be OFD. The patient had rebound tenderness in his right hip. After radiography examination, magnetic resonance imaging examinations and some physical examination, extensive bone destruction in the right ilium was confirmed...
November 26, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/30510581/hip-mobilization-at-preterm-age-may-accelerate-developmental-dysplasia-recovery
#11
Mariana Callil Voos, Soares de Moura Maria Clara Drummond, Renata Hydee Hasue
Purpose: Few studies have described mobilization approaches in developmental dysplasia of the hip (DDH). The present study describes the hip mobilization of a preterm infant (born at 33 6/7 weeks of gestational age) diagnosed with DDH. Design and Methods: During the 43-day hospital stay, the infant was seen twice a week (ten sessions, 20 minutes each). All sessions included hip approximation maneuvers, with the hip positioned in abduction, lateral rotation and flexion, and lower limbs passive mobilization, which were taught to the mother...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/30509621/influence-of-hip-center-position-anterior-inferior-iliac-spine-morphology-and-ball-head-diameter-on-range-of-motion-in-total-hip-arthroplasty
#12
Tomonori Tabata, Nobuhiro Kaku, Hiroaki Tagomori, Hiroshi Tsumura
BACKGROUND: Acetabular component orientation, such as high placement and femoral head diameter influence joint stability in total hip arthroplasty (THA), wherein anterior inferior iliac spine (AIIS) shape could cause femoro-acetabular impingement. Little is known regarding the combined influence of these parameters, particularly in the context of developmental dysplasia of the hip. Therefore we conducted a computer simulation study based on computed tomography (CT) data to determine whether: (1) AIIS shape, (2) high placement of acetabular cups, and (3) ball head diameter influence the range of motion (ROM) after THA...
November 30, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/30506724/lung-development-and-emerging-roles-for-type-2-immunity
#13
REVIEW
Svenja Loering, Guy J M Cameron, Malcolm R Starkey, Philip M Hansbro
Lung development is a complex process mediated through the interaction of multiple cell types, factors and mediators. In mice, it starts as early as embryonic day 9 and continues into early adulthood. The process can be separated into five different developmental stages: embryonic, pseudoglandular, canalicular, saccular and alveolar. Whilst lung bud formation and branching morphogenesis have been studied extensively, the mechanisms of alveolarization are incompletely understood. Aberrant lung development can lead to deleterious consequences for respiratory health such as bronchopulmonary dysplasia, a disease primarily affecting preterm neonates, which is characterized by increased pulmonary inflammation and disturbed alveolarization...
December 2, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/30505940/effects-of-bronchopulmonary-dysplasia-on-swallow-breath-interaction-and-phase-of-respiration-with-swallow-during-non-nutritive-suck
#14
Eric W Reynolds, Debbie Grider, Rhonda Caldwell, Gilson Capilouto, Abhijit Patwardhan, Richard Charnigo
Objectives: The objective of this study is to describe swallow:breath interaction (SwBr) and phase of respiration incident to swallow (POR) during non-nutritive suck in infants with bronchopulmonary dysplasia and determine if speech-language intervention can modify the characteristics of non-nutritive suck in these infants. Methods: Logistic regression models were used to describe SwBr and POR in 16 low-risk preterm (LRP) infants and 43 infants with bronchopulmonary dysplasia...
September 2018: Journal of Nature and Science
https://www.readbyqxmd.com/read/30504547/focal-cortical-dysplasias-a-histopathologically-diverse-group-of-developmental-lesions-with-unique-clinicopathological-and-molecular-genetic-aberrations
#15
https://www.readbyqxmd.com/read/30489462/response-to-is-the-extensive-anterolateral-approach-for-the-treatment-of-developmental-dysplasia-of-the-hip-more-favorable-than-conventional-surgical-methods-by-citlak-and-baki
#16
Hideaki Watanabe, Ryo Sugawara
No abstract text is available yet for this article.
January 2019: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/30489443/t%C3%A3-nnis-triple-pelvic-osteotomy-for-the-management-of-late-residual-acetabular-dysplasia-mid-term-to-long-term-follow-up-study-of-54-patients
#17
Pasquale Farsetti, Roberto Caterini, Fernando De Maio, Vito Potenza, Kristian Efremov, Ernesto Ippolito
The authors reviewed 54 (58 hips) patients with acetabular dysplasia following developmental dislocation of the hip (DDH), treated by triple pelvic osteotomy according to the Tönnis technique. The aim of our study was to report the long-term clinical and radiographic results of the operation at a mean follow-up of 12 years (from 7 to 20). At diagnosis, all the hips were painful, the Wiberg angle measured less than 20°, and no radiographic signs of osteoarthritis were present. At follow-up, 82.7% of the operated hips showed either excellent or good results, according to Harris, and the Wiberg angle measured an average of 34° (from 26° to 45°)...
November 26, 2018: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/30483824/reduction-of-the-dislocated-hips-with-the-t%C3%A3-bingen-hip-flexion-splint-in-infants
#18
Murat Yegen, Hakan Atalar, Cuneyd Gunay, Osman Yuksel Yavuz, Ismail Uras, Ahmet Yigit Kaptan
PURPOSE: Early detection and conservative treatment are essential for a successful outcome in developmental dysplasia of the hip (DDH). The aim of this study was to evaluate the efficacy of Tübingen hip flexion splint treatment on dislocated hips of type D, 3, and 4 according to the Graf classification. METHODS: A total of 104 dislocated hips in 92 patients were treated with Tübingen splints. Splint treatment was applied to patients with dislocated hips as diagnosed under ultrasonographic evaluation...
November 27, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/30477030/adenosine-kinase-deficiency-report-and-review
#19
Alhanouf Alhusani, Abdulrahman Obaid, Henk J Blom, Anna Wedell, Majid Alfadhel
Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene...
November 26, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30476126/severe-tubb4a-related-hypomyelination-with-atrophy-of-the-basal-ganglia-and-cerebellum-novel-neuropathological-findings
#20
Kristina M Joyal, Jean Michaud, Marjo S van der Knaap, Marianna Bugiani, Sunita Venkateswaran
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyelination and progressive atrophy of the basal ganglia and cerebellum due to a genetic mutation of the TUBB4A gene. It has only been recognized since 2002 and the full spectrum of the disorder is still being delineated. Here, we review a case report of a severely affected girl with a thorough neuropathological evaluation demonstrating novel clinical and pathological findings...
November 22, 2018: Journal of Neuropathology and Experimental Neurology
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