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https://www.readbyqxmd.com/read/28110515/missense-variant-in-uba2-associated-with-aplasia-cutis-congenita-duane-anomaly-hip-dysplasia-and-other-anomalies-a-possible-new-disorder-involving-the-sumoylation-pathway
#1
Michael Marble, Maria J Guillen Sacoto, Rashmi Chikarmane, Dominic Gargiulo, Jane Juusola
We report a patient with aplasia cutis congenita, Duane anomaly, hip dysplasia, and other anomalies who had a de novo missense variant in UBA2, which encodes for a protein involved in the SUMOylation pathway. It has previously been suggested that UBA2 haploinsufficiency underlies scalp defects in the 19q13.11 deletion syndrome. We propose that disturbance of the SUMOylation pathway, mediated by pathogenic variants in UBA2, is a novel mechanism for aplasia cutis congenita and other phenotypic abnormalities. © 2016 Wiley Periodicals, Inc...
January 22, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28099350/retrospective-observational-study-comparing-the-international-hip-dysplasia-institute-classification-with-the-tonnis-classification-of-developmental-dysplasia-of-the-hip
#2
Mingyuan Miao, Haiqing Cai, Liwei Hu, Zhigang Wang
The Tonnis radiographic classification of developmental dysplasia of the hip (DDH) has been widely used. The International Hip Dysplasia Institute (IHDI) classification, a new classification system recently developed by the IHDI, is beginning to be applied to evaluate DDH with the absence of an ossification center. This study aimed to validate its reliability in evaluating DDH with an ossification center and compared the 2 classifications in evaluating all DDH hips. In addition, the prediction values of the 2 classifications on clinical management selection were compared...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28098707/descriptive-epidemiology-of-acetabular-dysplasia-the-academic-network-of-conservational-hip-outcomes-research-anchor-periacetabular-osteotomy
#3
Wudbhav N Sankar, Stephen T Duncan, Geneva R Baca, Paul E Beaulé, Michael B Millis, Young-Jo Kim, Christopher L Peters, David A Podeszwa, Perry L Schoenecker, Rafael J Sierra, Ernest L Sink, Daniel J Sucato, Robert T Trousdale, Ira Zaltz, John C Clohisy
BACKGROUND: Periacetabular osteotomy (PAO) is an established treatment for symptomatic acetabular dysplasia, which is a well-recognized cause of hip pain, functional limitations, and secondary osteoarthritis. The purpose of this study was to describe the demographics of patients undergoing PAO, the baseline patient-reported outcome measures for this population, and the types of adjunctive procedures performed at the time of PAO surgery. METHODS: Demographics, disease characteristics, and patient-reported functional measures were prospectively collected from all patients who underwent PAO performed by 12 surgeons from 2008 to 2013...
February 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28098581/timing-of-pavlik-harness-initiation-can-we-wait
#4
Jill E Larson, Anay R Patel, Brian Weatherford, Joseph A Janicki
BACKGROUND: Developmental dysplasia of the hip is effectively treated with a Pavlik harness (PH) within the first 6 months of life. Over 80% of unstable hips in the newborn period will naturally stabilize by 2 months of age. If there is no difference in the effectiveness of initiating PH treatment at 1 week compared with 4 weeks of age, waiting may allow the hips to naturally stabilize and avoid treatment. The purpose of this study is to evaluate whether the timing of PH implementation influences its effectiveness in the treatment of developmental dysplasia of the hip...
January 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28097844/-angel-shaped-phalango-epiphyseal-dysplasia-case-report
#5
René Conci, Alicia Oller, Martín Moya, Adriana Echegaray, Donald Frush
We describe a rare and sporadic condition, characterized by swan neck deformity in hands, hip osteoarthritis in adulthood and malformations of the middle phalanges with an angel shape. The patient is a 4 year old boy who suffered hand trauma and on x-ray examination he was diagnosed with angel-shaped phalango-epiphyseal dysplasia. Based on this diagnosis, his mother, who suffered from constant pain in her hips and lower limbs, was diagnosed with this syndrome as well.
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28094414/asymmetrical-lumbosacral-transitional-vertebrae-in-dogs-may-promote-asymmetrical-hip-joint-development
#6
Mark A Flückiger, Frank Steffen, Michael Hässig, Joseph P Morgan
OBJECTIVES: This study examines the relationship between the morphology of the lumbosacral transitional vertebra (LTV) and asymmetrical development of the hip joints in dogs. METHODS: A total of 4000 dogs which had been consecutively scored for canine hip dysplasia were checked for the presence of a LTV. A LTV was noted in 138 dogs and classified depending on the morphology of the transverse processes and the degree of contact with the ilium. RESULTS: In dogs with an asymmetrical LTV, the hip joint was significantly more predisposed to subluxation and malformation on the side of the intermediate or sacral-like transverse process (p <0...
January 17, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28079743/normal-radiographic-parameters-in-paediatric-pelvic-radiographs-from-a-chinese-population
#7
Evelyn E Kuong, William T Gardner, Paul A Koljonen, Sudhir K Mahapatra, Wang Chow
: Paediatric pelvic and hip radiographs are a common investigation used when assessing a child for suspected developmental dysplasia of the hip. This report describes an attempt to establish normal values of medial joint space, acetabular index and centre edge angle according to specific age groups and sex in a Chinese population. Patients who had undergone a pelvic radiograph as part of their assessment, but were subsequently found to have normal hips were recruited retrospectively. These patients were grouped according to sex and age; medial joint space, acetabular index and centre edge angle were measured in all radiographs...
January 10, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28078360/multimodal-nerve-monitoring-during-periacetabular-osteotomy-identifies-surgical-steps-associated-with-risk-of-injury
#8
Eduardo N Novais, Travis Heare, Lauryn Kestel, Patricia Oliver, Willy Boucharel, Jason Koerner, Kim Strupp
PURPOSE: Sciatic nerve palsy after periacetabular osteotomy (PAO) is a serious complication. The purpose of this study was to determine whether a multimodal sciatic monitoring technique allows for identification of surgical steps that place the sciatic nerve at risk. METHODS: Transcranial electrical motor evoked potentials (TcMEPs), somatosensory evoked potentials (SSEPs), and spontaneous electromyography (EMG) were monitored in a consecutive series of 34 patients (40 hips) who underwent PAO for the treatment of symptomatic hip dysplasia between January 2012 and November 2014...
January 11, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28077758/inter-rater-agreement-in-radiographic-canine-hip-dysplasia-evaluation
#9
U Geissbühler, S Drazovic, J Lang, J Howard
The objective was to determine the agreement between scrutineers assessing canine hip dysplasia (CHD) within and between the Fédération Cynologique Internationale (FCI) and the Swiss (CH) grading schemes, and between first-opinion and second-opinion scrutineers using the CH scheme. 62 scrutineers, participating in a quality assessment programme, were asked to evaluate 12 sets of hip radiographs. All radiographs had been previously evaluated by a first-opinion and 7 by both a first-opinion and second-opinion scrutineers using the CH scheme...
January 11, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28075436/gait-kinematic-deviations-in-patients-with-developmental-dysplasia-of-the-hip-treated-with-total-hip-arthroplasty
#10
Yong Nie, Ning Ning, Fuxing Pei, Bin Shen, Zongke Zhou, Zongming Li
Comprehensive gait analysis of patients with Crowe type II and III developmental dysplasia of the hip (DDH) after successful total hip arthroplasty (THA) is lacking in the literature. This study evaluated gait function in joint kinematics after unilateral and bilateral THA in patients with DDH. In addition, the effect of high cup position on gait function was investigated. A total of 16 unilateral and 15 bilateral cementless THA patients due to DDH and 10 healthy participants comprised the study population...
January 11, 2017: Orthopedics
https://www.readbyqxmd.com/read/28066739/hip-instability-a-review-of-hip-dysplasia-and-other-contributing-factors
#11
REVIEW
Matthew J Kraeutler, Tigran Garabekyan, Cecilia Pascual-Garrido, Omer Mei-Dan
BACKGROUND: Hip instability has classically been associated with developmental dysplasia of the hip (DDH) in newborns and children. However, numerous factors may contribute to hip instability in children, adolescents, and adults. PURPOSE: This review aims to concisely present the literature on hip instability in patients of all ages in order to guide health care professionals in the appropriate diagnosis and treatment of the various disorders which may contribute to an unstable hip...
July 2016: Muscles, Ligaments and Tendons Journal
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#12
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28060231/patient-reported-outcomes-of-periacetabular-osteotomy-from-the-prospective-anchor-cohort-study
#13
John C Clohisy, Jeffrey Ackerman, Geneva Baca, Jack Baty, Paul E Beaulé, Young-Jo Kim, Michael B Millis, David A Podeszwa, Perry L Schoenecker, Rafael J Sierra, Ernest L Sink, Daniel J Sucato, Robert T Trousdale, Ira Zaltz
BACKGROUND: Current literature describing the periacetabular osteotomy (PAO) is mostly limited to retrospective case series. Larger, prospective cohort studies are needed to provide better clinical evidence regarding this procedure. The goals of the current study were to (1) report minimum 2-year patient-reported outcomes (pain, hip function, activity, overall health, and quality of life), (2) investigate preoperative clinical and disease characteristics as predictors of clinical outcomes, and (3) report the rate of early failures and reoperations in patients undergoing contemporary PAO surgery...
January 4, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28054324/corr-insights-%C3%A2-the-femoro-epiphyseal-acetabular-roof-fear-index-a-new-measurement-associated-with-instability-in-borderline-hip-dysplasia
#14
Hal David Martin
No abstract text is available yet for this article.
January 4, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28053253/minimally-invasive-periacetabular-osteotomy-using-a-modified-smith-petersen-approach-technique-and-early-outcomes
#15
O H Khan, A Malviya, P Subramanian, D Agolley, J D Witt
AIMS: Periacetabular osteotomy is an effective way of treating symptomatic hip dysplasia. We describe a new minimally invasive technique using a modification of the Smith-Peterson approach. We performed a prospective, longitudinal cohort study to assess for any compromise in acetabular correction when using this approach, and to see if the procedure would have a higher complication rate than that quoted in the literature for other approaches. We also assessed for any improvement in functional outcome...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28051031/inverted-acetabular-labrum-an-analysis-of-tissue-embedment-in-hip-joint-in-15-patients-with-developmental-dysplasia-of-the-hip
#16
Hui-Liang Zhang, Jun-Sheng Liang, Li-Geng Li, Dian-Zhong Luo, Kai Xiao, Hui Cheng, Hong Zhang
No abstract text is available yet for this article.
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28042118/post-operative-neuropathy-after-total-hip-arthroplasty
#17
E P Su
Nerve palsy is a well-described complication following total hip arthroplasty, but is highly distressing and disabling. A nerve palsy may cause difficulty with the post-operative rehabilitation, and overall mobility of the patient. Nerve palsy may result from compression and tension to the affected nerve(s) during the course of the operation via surgical manipulation and retractor placement, tension from limb lengthening or compression from post-operative hematoma. In the literature, hip dysplasia, lengthening of the leg, the use of an uncemented femoral component, and female gender are associated with a greater risk of nerve palsy...
January 2017: Bone & Joint Journal
https://www.readbyqxmd.com/read/28032035/seasonal-variation-in-adult-hip-disease-secondary-to-osteoarthritis-and-developmental-dysplasia-of-the-hip
#18
Tatsuya Sueyoshi, Merrill A Ritter, Kenneth E Davis, Randall T Loder
AIM: To determine if there was a seasonal variation in adults undergoing total hip arthroplasty for end stage hip disease due to osteoarthritis (OA) or sequelae of developmental dysplasia of the hip (DDH). METHODS: The total hip registry from the author's institution for the years 1969 to 2013 was reviewed. The month of birth, age, gender, and ethnicity was recorded. Differences between number of births observed and expected in the winter months (October through February) and non-winter mo (March through September) were analyzed with the χ(2) test...
December 18, 2016: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28032030/lessons-learned-from-study-of-congenital-hip-disease-in-adults
#19
REVIEW
George Hartofilakidis, Kalliopi Lampropoulou-Adamidou
Orthopaedic surgeons specialising in adult hip reconstruction surgery often face the problem of osteoarthritis secondary to congenital hip disease (CHD). To achieve better communication among physicians, better treatment planning and evaluation of the results of various treatment options, an agreed terminology is needed to describe the entire pathology. Furthermore, a generally accepted classification of the deformities is necessary. Herein, the authors propose the use of the term "congenital hip disease" and its classification as dysplasia, low dislocation and high dislocation...
December 18, 2016: World Journal of Orthopedics
https://www.readbyqxmd.com/read/28031513/double-intertrochanteric-osteotomy-for-trochanteric-overgrowth-and-a-short-femoral-neck-in-adolescents
#20
Turgut Akgül, Cengiz Şen, Halil İbrahim Balci, Gökhan Polat
PURPOSE: To review the outcome of Wagner double intertrochanteric osteotomy for trochanteric overgrowth and a short femoral neck in 7 adolescents. METHODS: Records of one male and 6 females aged 15 to 20 years who underwent modified Wagner osteotomy for trochanteric overgrowth and a short femoral neck by a single senior surgeon were reviewed. The diagnoses were coxa vara (n=2), developmental dysplasia of the hip (n=3), Leg-Calve-Perthes (n=1), and proximal femoral focal deficiency (n=1)...
December 2016: Journal of Orthopaedic Surgery
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