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Developmental dysplasia

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https://www.readbyqxmd.com/read/30308128/structure-and-function-of-the-fgd-family-of-divergent-fyve-domain-proteins
#1
Gary Eitzen, Cameron C Smithers, Allan Murray, Michael Overduin
FYVE domains are highly conserved protein modules that typically bind phosphatidylinositol 3-phosphate (PI3P) on the surface of early endosomes. Along with pleckstrin homology (PH) and phox homology (PX) domains, FYVE domains are the principal readers of the phosphoinositide (PI) code that mediate specific recognition of eukaryotic organelles. Of all the human FYVE domain-containing proteins, those within the Faciogenital dysplasia (Fgd) subfamily are particularly divergent, and couple with GTPases to exert unique cellular functions...
October 11, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/30308084/aium-acr-spr-sru-practice-parameter-for-the-performance-of-an-ultrasound-examination-for-detection-and-assessment-of-developmental-dysplasia-of-the-hip
#2
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
October 11, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/30306481/biomechanical-guidance-system-for-periacetabular-osteotomy
#3
Mehran Armand, Robert Grupp, Ryan Murphy, Rachel Hegman, Robert Armiger, Russell Taylor, Benjamin McArthur, Jyri Lepisto
This chapter presents a biomechanical guidance navigation system for performing periacetabular osteotomy (PAO) to treat developmental dysplasia of the hip. The main motivation of the biomechanical guidance system (BGS) is to plan and track the osteotomized fragment in real time during PAO while simplifying this challenging procedure. The BGS computes the three-dimensional position of the osteotomized fragment in terms of conventional anatomical angles and simulates biomechanical states of the joint. This chapter describes the BGS structure and its application using two different navigation approaches including optical tracking of the fragment and x-ray-based navigation...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/30303698/value-of-computed-tomography-based-three-dimensional-pre-operative-planning-in-cup-placement-in-total-hip-arthroplasty-with-dysplastic-acetabulum
#4
Peihui Wu, Qiaoli Liu, Ming Fu, Zhiqi Zhang, Suiwen He, Weiming Liao, Yan Kang
OBJECTS: To investigate the value of CT-based 3D templating software for pre-operative planning in patients with acetabular dysplasia undergoing total hip arthroplasty (THA) with a minimum follow-up of 2 years. METHODS: We performed a retrospective review of a single surgeon's cohort of patients with Crowe I to III developmental dysplastic hip (49 hips in 41 patients) who underwent cementless primary THA and were available for follow-up at a mean of 2.7 years after THA...
October 10, 2018: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/30300278/comparison-of-3-pediatric-pelvic-osteotomies-for-acetabular-dysplasia-using-patient-specific-3d-printed-models
#5
Jason P Caffrey, Megan E Jeffords, Christine L Farnsworth, James D Bomar, Vidyadhar V Upasani
BACKGROUND: Children with developmental dysplasia of the hip may require a pelvic osteotomy to treat acetabular dysplasia. Three osteotomies are commonly performed in these patients (Pemberton, Dega, and San Diego), though comparative studies of each are limited. The purpose of this study was to compare changes in acetabular morphology (acetabular version, volume, and octant coverage angles) created by these 3 osteotomies using matched patient-specific 3D-printed pelvic models. METHODS: Fourteen patients with developmental dysplasia of the hip and preoperative computed tomography (CT) imaging were retrospectively included...
October 8, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/30300218/management-of-developmental-dysplasia-of-the-hip-in-infants-up-to-six-months-of-age-intended-for-use-by-orthopaedic-specialists
#6
Julie Samora, Robert H Quinn, Jayson Murray, Ryan Pezold, Quinn Hall
The American Academy of Orthopaedic Surgeons has developed the Appropriate Use Criteria (AUC) for the Management of Developmental Dysplasia of the Hip in Infants up to Six Months of Age: Intended for Use by Orthopaedic Specialists. Evidence-based information, in conjunction with the clinical expertise of physicians, was used to develop the criteria to improve patient care and obtain best outcomes while considering the subtleties and distinctions necessary in making clinical decisions. The Management of Developmental Dysplasia of the Hip in Infants up to Six Months of Age: Intended for Use by Orthopaedic Specialists AUC clinical patient scenarios were derived from indications typical of patients presenting with developmental dysplasia of the hip in clinical practice...
October 8, 2018: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/30300217/management-of-developmental-dysplasia-of-the-hip-in-infants-up-to-six-months-of-age-intended-for-use-by-general-pediatricians-and-referring-physicians
#7
Samora Julie, Robert H Quinn, Jayson Murray, Ryan Pezold, Quinn Hall
The American Academy of Orthopaedic Surgeons has developed the Appropriate Use Criteria (AUC) for the Management of Developmental Dysplasia of the Hip in Infants up to Six Months of Age: Intended for Use by General Pediatricians and Referring Physicians. Evidence-based information, in conjunction with the clinical expertise of physicians, was used to develop the criteria to improve patient care and obtain best outcomes while considering the subtleties and distinctions necessary in making clinical decisions...
October 8, 2018: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/30295526/results-of-universal-ultrasound-screening-for-developmental-dysplasia-of-the-hip
#8
R Biedermann, J Riccabona, J M Giesinger, A Brunner, M Liebensteiner, J Wansch, D Dammerer, M Nogler
AIMS: The purpose of this study was to analyze the incidence of the different ultrasound phenotypes of developmental dysplasia of the hip (DDH), and to determine their subsequent course. PATIENTS AND METHODS: A consecutive series of 28 092 neonates was screened and classified according to the Graf method as part of a nationwide surveillance programme, and then followed prospectively. Abnormal hips were followed until they became normal (Graf type I). Type IIb hips and higher grades were treated by abduction in a Tübinger orthosis until normal...
October 2018: Bone & Joint Journal
https://www.readbyqxmd.com/read/30295045/-follow-up-study-of-extremely-low-birth-weight-preterm-infants-to-preschool-age-in-the-light-of-perinatal-complications
#9
Anett Nagy, Anna Mária Beke, Renáta Cserjési, Rózsa Gráf, Magda Kalmár
INTRODUCTION: Owing to the rapid progress of the medical science and technology, the chances of survival of the extremely low birth weight (<1000 g) preterm babies have dramatically improved. Nevertheless, the research findings on their long-term developmental outcome are inconsistent. AIM: Our study has attempted to contribute to the understanding of the developmental mechanisms in the extremely low birth weight preterm infants and to the prediction of the developmental outcomes taking into account of the risk factors of development...
October 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/30292598/does-hip-center-location-affect-the-recovery-of-abductor-moment-after-total-hip-arthroplasty
#10
Jun-Ichi Fukushi, Ichiro Kawano, Goro Motomura, Satoshi Hamai, Ken-Ichi Kawaguchi, Yasuharu Nakashima
BACKGROUND: In total hip arthroplasty (THA), placing the cup in an anatomic position is not always possible in case of deformities related to developmental dysplasia of the hip (DDH). Thus far, the influence of a hip center on the abductor moment after THA has not been clearly elucidated. Therefore, we performed a retrospective study to assess (1) how abductor muscle moment recovers postoperatively in THA and (2) whether acetabular cup position affects the recovery of abductor moment...
October 3, 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/30291279/ccdc114-is-mutated-in-patient-with-a-complex-phenotype-combining-primary-ciliary-dyskinesia-sensorineural-deafness-and-renal-disease
#11
Ping Li, Yani He, Guangyan Cai, Fei Xiao, Jie Yang, Qinggang Li, Xiangmei Chen
Ciliopathies-are widely recognized and associated with a wide variety of developmental and degenerative disorders. Most cilia-related diseases have renal manifestation, and there is a cross- overlapping relationship between gene mutations and cilia disease. Here, we investigated the clinical and pathological manifestation of a rare disease patient. We present the case of a 15-year-old child with dysplasia and multiple-organ damage who was initially diagnosed with nephrotic syndrome. The patient's kidney disease progressed to renal failure and received hemodialysis 10 months after renal biopsy...
October 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/30273960/a-novel-mutation-in-teneurin-3-found-to-co-segregate-in-all-affecteds-in-a-multi-generation-family-with-developmental-dysplasia-of-the-hip
#12
George Feldman, Dietmar Kappes, Jayati Mookerjee-Basu, Theresa Freeman, Andrzej Fertala, Javad Parvizi
DDH is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the hip, suboptimal joint function and accelerated wear of the articular cartilage resulting in early onset crippling arthritis of the hip in 20-40 year olds. Current diagnostic tests in newborns using physical manipulation of the femur or ultrasound either under or over-diagnose this condition. Developing an accurate, cost effective diagnostic test is a goal of this study. To better understand the biologic pathways involved in acetabular development, DNA from severely affected individuals in a 4 generation family that showed inter-generational transmission of the disorder was isolated and whole exome sequenced...
October 1, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/30273601/intrauterine-programming-of-glucocorticoid-insulin-like-growth-factor-1-axis-mediated-developmental-origin-of-osteoporosis-susceptibility-in-female-offspring-rats-of-prenatal-caffeine-exposure
#13
Yangfan Shangguan, Yinxian Wen, Yang Tan, Jun Qin, Hongqiang Jiang, Jacques Magdalou, Liaobin Chen, Hui Wang
Epidemiological investigations suggest that excessive intake of caffeine during pregnancy is one of the risk factors for osteoporosis in adult offspring. However, the phenomena and mechanisms have remained obscure. Here, we find that prenatal caffeine exposure (PCE) leads to persistent bone dysplasia in gestational day (GD) 20 and postnatal week (PW) 12 offspring rats and increases the susceptibility to osteoporosis in PW28 offspring rats. In the embryonic period, PCE increases the concentration of serum corticosterone and inhibits the expression of insulin-like growth factor 1 (IGF1) and osteogenic differentiation genes...
September 28, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/30273415/genome-wide-association-study-of-developmental-dysplasia-of-the-hip-identifies-an-association-with-gdf5
#14
Konstantinos Hatzikotoulas, Andreas Roposch, Karan M Shah, Matthew J Clark, Selina Bratherton, Vasanti Limbani, Julia Steinberg, Eleni Zengini, Kaltuun Warsame, Madhushika Ratnayake, Maria Tselepi, Jeremy Schwartzentruber, John Loughlin, Deborah M Eastwood, Eleftheria Zeggini, J Mark Wilkinson
Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We conduct the largest DDH genome-wide association study to date and replicate our findings in independent cohorts. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1...
2018: Communications biology
https://www.readbyqxmd.com/read/30271085/novel-methionyl-trna-synthetase-gene-variants-phenotypes-in-interstitial-lung-and-liver-disease-a-case-report-and-review-of-literature
#15
Kuerbanjiang Abuduxikuer, Jia-Yan Feng, Yi Lu, Xin-Bao Xie, Lian Chen, Jian-She Wang
Interstitial lung and liver disease (ILLD) is caused by biallelic mutations in the methionyl-tRNA synthetase ( MARS ) gene. To date, no genetic changes other than missense variants were reported in the literature. Here, we report a five-month old female infant with typical ILLD (failure to thrive, developmental delay, jaundice, diffuse interstitial lung disease, hepatomegaly with severe steatosis, anemia, and thrombocytosis) showing novel phenotypes such as kidney stones, acetabular dysplasia, prolonged fever, and extreme leukocytosis...
September 28, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/30263904/a-case-with-4-de-novo-copy-number-variations-with-clinical-features-that-overlap-1q43q44-microdeletion-and-3q29-microduplication-syndromes
#16
Miriam Kessi, Jing Peng, Lifen Yang, Haolin Duan, Yulin Tang, Fei Yin
1q43q44 microdeletion syndrome is characterized by intellectual disability/global developmental delay, epilepsy, dysmorphic facies, stereotypic movement, language delay, recurrent infections, dental anomalies, and hand and foot anomalies. Microcephaly and corpus callosum dysplasia are present in some cases depending on gene content. 3q29 microduplication syndrome is characterized by intellectual disability, language delay, microcephaly, and dental anomalies. We report the first case with 4 de novo copy number variations with clinical features which overlap 1q43q44 microdeletion and 3q29 microduplication syndromes...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/30262704/association-analysis-between-four-vitamin-d-receptor-gene-polymorphisms-and-developmental-dysplasia-of-the-hip
#17
Ayman H Jawadi, Anwar Wakeel, Waleed Tamimi, A Nasr, Zafar Iqbal, Abdullah Mashhour, Mohamed A Fattah, Nawaf Alkhanein, Ahmad S Abu Jaffal
Developmental dysplasia of the hip (DDH) is a congenital condition characterized by abnormality in acetabulum size and/or shape. The incidence rate of DDH differs between different populations with risk factors including positive family history, breech presentation, sex, firstborn status, side of the hip, mode of delivery and oligohydramnios. It is recognized that DDH has a genetic component that exhibit autosomal dominant patterns. Many candidate genes have been studied and found to be associated with the disease; most of them are normally involved in cartilage development and joint metabolism...
September 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30256053/transient-femoral-nerve-palsy-in-spica-cast-treatment-for-developmental-dysplasia-of-the-hip
#18
Luisella Pedrotti, Barbara Bertani, Gabriella Tuvo, Redento Mora, Mario Mosconi, Federica De Rosa
A 4 months and half female child come to our attention for congenital dislocation of the left hip, previously treated in another hospital with abduction bracing, without satisfactory results. After progressive longitudinal bilateral traction, closed reduction under general anesthesia was performed and a spica cast was applied in the so-called human position. The patients remained in the spica cast for 6 weeks and then the plaster cast was renewed in narcosis for another 6 weeks. Once the second cast has been removed left femoral nerve palsy was detected...
September 26, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/30251192/does-high-hip-centre-affect-dislocation-after-total-hip-arthroplasty-for-developmental-dysplasia-of-the-hip
#19
Keisuke Komiyama, Jun-Ichi Fukushi, Goro Motomura, Satoshi Hamai, Satoshi Ikemura, Masanori Fujii, Yasuharu Nakashima
BACKGROUND: To achieve sufficient socket coverage by the native bone, high placement of cementless acetabular cup is often required. We previously reported, using computer simulation, that higher hip centre improved the bone coverage but decreased the range of motion in total hip arthroplasty (THA) for patients with hip dysplasia. However, in a clinical setting, the correlation between the hip centre height and dislocation after primary THA is still unclear. We examined whether a high hip centre affects dislocation after THA...
September 24, 2018: International Orthopaedics
https://www.readbyqxmd.com/read/30247233/corr-insights%C3%A2-a-possible-new-radiographic-predictor-of-progression-of-osteoarthritis-in-developmental-dysplasia-of-the-hip-the-center-gap
#20
Benjamin F Ricciardi
No abstract text is available yet for this article.
September 11, 2018: Clinical Orthopaedics and related Research
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