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https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#1
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/28032030/lessons-learned-from-study-of-congenital-hip-disease-in-adults
#2
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/28009797/what-s-new-in-congenital-scoliosis
#3
Joshua M Pahys, James T Guille
BACKGROUND: Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery...
December 22, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#4
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27930594/revision-surgery-after-pregnancy-in-a-patient-with-congenital-kyphoscoliosis-a-case-report
#5
Zhikun Li, Fei Wang, Wei Xu, Yifan Li, Xiaodong Zhu
RATIONALE: Rod breakage during pregnancy and delivery has never been described in a patient who has undergone surgery for congenital scoliosis (CS). Here, we present an unusual but significant case of revision surgery. PATIENT CONCERNS: A 29-year-old woman presented with low back pain during pregnancy after posterior osteotomy, correction and fusion at T9 to L5 for CS. Radiographs during follow-up, 4 months after the patient gave birth, demonstrated rod breakage...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27908676/effect-of-selective-dorsal-rhizotomy-on-daily-care-and-comfort-in-non-walking-children-and-adolescents-with-severe-spasticity
#6
A I Buizer, P E M van Schie, E A M Bolster, W J van Ouwerkerk, R L Strijers, L A van de Pol, A Stadhouder, J G Becher, R J Vermeulen
BACKGROUND: In non-walking children with severe spasticity, daily care can be difficult and many patients suffer from pain. Selective dorsal rhizotomy (SDR) reduces spasticity in the legs, and therefore has the potential to improve daily care and comfort. AIM: To examine effects of SDR on daily care and comfort in non-walking children with severe spasticity due to different underlying neurological conditions. METHODS: Medical history, changes in daily care and comfort and satisfaction with outcome were assessed retrospectively in non-walking children who underwent SDR in our center, with a mean follow-up of 1y 7m (range 11m-4y 3m)...
October 22, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27858533/revisiting-the-differences-between-irreducible-and-reducible-atlantoaxial-dislocation-in-the-era-of-direct-posterior-approach-and-c1-2-joint-manipulation
#7
Arsikere N Deepak, Pravin Salunke, Sushanta K Sahoo, Prashant K Prasad, Niranjan K Khandelwal
OBJECTIVE The current management of atlantoaxial dislocation (AAD) focuses on the C1-2 joints, commonly approached through a posterior route. The distinction between reducible AAD (RAAD) and irreducible AAD (IrAAD) seems to be less important in modern times. The roles of preoperative traction and dynamic radiographs are questionable. This study evaluated whether differentiating between the 2 groups is important in today's era. METHODS Ninety-six consecutive patients with congenital AAD (33 RAAD and 63 IrAAD), who underwent surgery through a posterior approach alone, were studied...
November 18, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27826907/the-unstable-knee-in-congenital-limb-deficiency
#8
REVIEW
Gabriel T Mindler, Christof Radler, Rudolf Ganger
PURPOSE: Instability of the knee is a common finding in patients with congenital limb deficiency. The instability can be attributed to soft tissue abnormalities, frontal, sagittal or rotational deformity of the lower limb and bony dysplasia of the patella or of the femoral condyles. In most of the cases, these pathomorphologic changes stay asymptomatic in daily activity. However, instability can appear during deformity correction and bone-lengthening procedures, leading to flexion contracture or subluxation of the knee...
December 2016: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/27787808/evaluation-of-complications-associated-with-off-label-use-of-recombinant-human-bone-morphogenetic-protein-2-rhbmp-2-in-pediatric-orthopaedics
#9
Norbert Stiel, Tim N Hissnauer, Martin Rupprecht, Kornelia Babin, Carsten W Schlickewei, Johannes M Rueger, Ralf Stuecker, Alexander S Spiro
The off-label use of recombinant human bone morphogenetic protein-2 to promote bone healing in adults has significantly increased in recent years, while reports of recombinant human bone morphogenetic protein-2 application in children and adolescents are very rare. The aim of this study was to evaluate the safety of single and repetitive recombinant human bone morphogenetic protein-2 use in pediatric orthoapedics. Therefore we reviewed the medical records of 39 patients who had been treated with recombinant human bone morphogenetic protein-2 at our institution...
December 2016: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/27714448/paul-of-aegina-ca-625-690-ad-and-his-orthopaedic-surgical-reconstruction-of-the-preternatural-fingers
#10
REVIEW
Gregory Tsoucalas, Markos Sgantzos
Paul of Aegina lived in a era when the preservation of the ancient Greek tradition was for him almost a necessity. Eager to follow the dogma of "oρθoπo(ε)δώ" (orthopodo: pace with no malformation), he introduced a series of surgical operations of reconstructive-cosmetic-plastic-orthopaedic nature to confront any disfiguration of the human body. The aim of our study is to present the atmosphere of the era concerning the congenital malformations, describe briefly Paul's contribution on classic orthopaedics and present his views on the preternatural fingers...
January 2017: International Orthopaedics
https://www.readbyqxmd.com/read/27703943/slipped-distal-femoral-epiphysis-in-congenital-insensitivity-to-pain
#11
M Javed Shaikh, C Rex, R Vignesh, Madhav Chavan
INTRODUCTION: Congenital insensitivity to pain (CIP) is a rare disorder, and often presents to an orthopaedic surgeon as recurrent fractures, dislocations, pseudoarthrosis, osteomyelitis etc. Here, we report a case of congenital insensitivity to pain presenting with distal femoral physeal separation in a child. CASE REPORT: A 12-year-old girl child came with complaints of limp while walking and swelling in the left knee for past 5 weeks. Mother gave a history that the girl is a known case of congenital insensitivity to pain with clear history of no pain on intramuscular injection since birth...
April 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/27637569/orthopaedic-manifestations-of-congenital-indifference-to-pain-with-anhidrosis-hereditary-sensory-and-autonomic-neuropathy-type-iv
#12
Babar Kayani, Mathew David Sewell, Johnson Platinum, Andre Olivier, Timothy W R Briggs, Deborah M Eastwood
BACKGROUND: Congenital indifference to pain with anhidrosis (CIPA) is a rare hereditary neuropathy, which is associated with defective sensation to noxious stimuli and autonomic dysfunction. The objective of the study was to report on the orthopaedic manifestations of this condition and provide an evidence-based approach for management. METHODS: Retrospective review of 14 consecutive patients with CIPA referred to a single tertiary centre. Mean age of diagnosis was 2...
September 6, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27530988/ankle-fusion-combined-with-calcaneal-sliding-osteotomy-for-severe-arthritic-ball-and-socket-ankle-deformity
#13
Byung-Ki Cho, Kyoung-Jin Park, Seung-Myung Choi, Sang-Woo Kang, Hyung-Ki Lee
BACKGROUND: Although a ball and socket ankle deformity is usually congenital and asymptomatic, abnormal inversion and eversion mobility can result in recurrent ankle sprain and osteoarthritis. This retrospective study was performed to evaluate the clinical and radiologic outcomes of ankle fusion combined with calcaneal sliding osteotomy for severe arthritic ball and socket ankle deformity. METHODS: Fourteen patients with severe arthritic ball and socket ankle deformity were followed for more than 3 years after operation...
December 2016: Foot & Ankle International
https://www.readbyqxmd.com/read/27452943/total-hip-replacement-in-congenital-hip-dislocation-in-14-years-female-patient
#14
Alexandru Ulici, Ana-Maria Dulea, Iulia Tevanov, Gabi Sterian, Radu Balanescu
INTRODUCTION: development dysplasia of the hip is one of the common disorders in pediatric orthopaedics. This requires an early orthopaedic treatment. Neglected cases can lead to hip dislocation, which has an incidence of 1.4 / mille new-borns, being bilateral in 70-80% of cases and prevalence of girls being 7 / 1-4 / 1 (girls / boys). Congenital hip dislocation requires a complex surgical and orthopaedic treatment. In most cases develop hip osteoarthritis in adulthood, requiring total hip replacement...
May 2016: Chirurgia
https://www.readbyqxmd.com/read/27432154/contribution-of-g-a-ilizarov-to-bone-reconstruction-historical-achievements-and-state-of-the-art
#15
Alexander V Gubin, Dmitry Y Borzunov, Larisa O Marchenkova, Tatiana A Malkova, Irina L Smirnova
Methodological solutions of Prof. G.A. Ilizarov are the core stone of the contemporary bone lengthening and reconstruction surgery. They have been acknowledged in the orthopaedic world as one of the greatest contributions to treating bone pathologies. The Ilizarov method of transosseous compression-distraction osteosynthesis has been widely used for managing bone non-union and defects, bone infection, congenital and posttraumatic limb length discrepancies, hand and foot disorders. The optimal conditions for implementing distraction and compression osteogenesis were proven by numerous experimental studies that Prof...
July 18, 2016: Strategies in Trauma and Limb Reconstruction
https://www.readbyqxmd.com/read/27378263/-bifid-rib-the-importance-of-good-radiological-procedure
#16
J H G Derriks, J G A Amaya, J Steens
BACKGROUND: Bifid rib is a congenital abnormality occurring in about 0.6% of the healthy population. CASE DESCRIPTION: A 5-year-old boy attended the Orthopaedics outpatient clinic with a swelling on the right of his sternum that was increasing in size. A chest x-ray did not reveal any abnormalities. However, on the CT scan that was then performed we saw a bifurcation of the fourth rib, for which we adopted a watchful waiting treatment strategy. With hindsight, the bifurcation was also visible on the x-ray image but we had not initially recognised it as such...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27298936/congenital-pseudoarthrosis-of-medial-malleolus-in-a-young-soccer-player-diagnosis-in-clinical-setting-of-ankle-sprain
#17
Giuliano Cerulli, Fantasia Fabiano, Potalivo Gabriele, Placella Giacomo, Sebastiani Enrico
INTRODUCTION: We report a case of a young female soccer player affected by congenital medial bilateral malleolus pseudoarthrosis and os subfibulare. Congenital pseudoarthrosis is the failure of the bones to fuse prior or at birth. The etiology is still unknown, although frequency is high in subjects affected by neurofibromatosis or correlated syndromes, so it has been suggested that these congenital disorders may be the cause of congenital pseudoarthrosis. CASE REPORT: Our patient, a 16-year-old female, high level soccer player, was referred to us following a right ankle sprain during a match...
January 2014: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/27280895/results-of-ponseti-brasil-program-multicentric-study-in-1621-feet-preliminary-results
#18
Monica P Nogueira, Ana C D B F Queiroz, Alessandro G Melanda, Ana P Tedesco, Antonio L G Brandão, Claudio Beling, Francisco H Violante, Gilberto F Brandão, Laura F A Ferreira, Leandro S Brambila, Leopoldina M Leite, Jose L Zabeu, Jung H Kim, Kalyana E Fernandes, Marcia A S Arima, Maria D P Q Aguilar, Orlando C D Farias Filho, Oscar B D A Oliveira Filho, Solange D S Pinho, Paulo Moulin, Reinaldo Volpi, Mark Fox, Miles F Greenwald, Brandon Lyle, Jose A Morcuende
BACKGROUND: The Ponseti method has been shown to be the most effective treatment for congenital clubfoot. The current challenge is to establish sustainable national clubfoot treatment programs that utilize the Ponseti method and integrate it within a nation's governmental health system. The Brazilian Ponseti Program (Programa Ponseti Brasil) has increased awareness of the utility of the Ponseti method and has trained >500 Brazilian orthopaedic surgeons in it. METHODS: A group of 18 of those surgeons had been able to reproduce the Ponseti clubfoot treatment, and compiled their initial results through structured spreadsheet...
June 8, 2016: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/27189655/spina-bifida
#19
Andrew J Copp, N Scott Adzick, Lyn S Chitty, Jack M Fletcher, Grayson N Holmbeck, Gary M Shaw
Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown...
April 30, 2015: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/27173093/intramedullary-magnetically-actuated-limb-lengthening-in-a-patient-with-congenital-humeral-limb-shortening
#20
Thomas M Tiefenboeck, Lukas Zak, Gerald E Wozasek
The treatment of leg length discrepancy has become a common procedure in orthopaedic surgery. However, lengthening of humeral deformities is still infrequent. The purpose of this case report was to present humeral lengthening with a new intramedullary lengthening device (PRECICE® P2 for tibia) in a 32 year old female patient with congenital shortening. Hereby the telescopic device presents a promising tool for humeral limb lengthening with excellent outcome at short-term in this case.
July 2016: Injury
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