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Joint laxity

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https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#1
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807347/dorsoradial-instability-of-the-thumb-metacarpophalangeal-joint-a-biomechanical-investigation
#2
Byung-Sung Kim, Alex Doermann, Michelle McGarry, Masaki Akeda, Hansel Ihn, Thay Q Lee
PURPOSE: To define the role of the dorsal capsule and associated dorsal fibrocartilage (DFC) and their interactions with the radial collateral ligament (RCL) as a thumb metacarpophalangeal (MCP) joint stabilizer. METHODS: Eight cadaveric thumbs were mounted onto a custom jig with 20 N of muscle load applied. The thumb position in space was digitized to measure ulnar-radial, pronation-supination, and volar-dorsal laxity at 0°, 30°, and 60° MCP joint flexion. Serial sectioning was performed and measurements were repeated for the intact state, proper RCL insufficiency, proper and accessory (complete) RCL insufficiency, complete RCL with 50% DFC (radial) insufficiency, and complete RCL with complete DFC insufficiency...
August 11, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28806096/results-of-anterior-cruciate-ligament-reconstruction-with-patellar-tendon-autografts-objective-factors-associated-with-the-development-of-osteoarthritis-at-20-to-33-years-after-surgery
#3
K Donald Shelbourne, Rodney W Benner, Tinker Gray
BACKGROUND: Few studies exist that report objective radiographic and physical examination results at >20 years after anterior cruciate ligament (ACL) reconstruction. HYPOTHESIS: The risk of osteoarthritis (OA) at >20 years after surgery would be statistically significantly higher if an increased severity of factors was present. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: Between 1982 and 1994, 1428 knees met the inclusion criteria of being primary ACL surgery, having no existing OA or other ligamentous laxity, and having no known graft tear...
August 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28795075/the-effect-of-menstrual-cycle-and-contraceptives-on-acl-injuries-and-laxity-a-systematic-review-and-meta-analysis
#4
REVIEW
Simone D Herzberg, Makalapua L Motu'apuaka, William Lambert, Rongwei Fu, Jacqueline Brady, Jeanne-Marie Guise
BACKGROUND: Women are at substantially greater risk for anterior cruciate ligament (ACL) injuries than are men. PURPOSE: To conduct a systematic review and meta-analysis of the literature to clarify the effect of the menstrual cycle and contraceptives on the laxity of and noncontact injuries to the ACL. STUDY DESIGN: Systematic review; Level of evidence, 4. METHODS: Searches were conducted using MEDLINE (1946-August 2016), the Cochrane Library Database, clinical trial registries, and related reference lists...
July 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28777213/glenohumeral-instability-related-to-special-conditions-slap-tears-pan-labral-tears-and-multidirectional-instability
#5
Gregory S Van Blarcum, Steven J Svoboda
Glenohumeral instability is one of the more common conditions seen by sports medicine physicians, especially in young, active athletes. The associated anatomy of the glenohumeral joint (the shallow nature of the glenoid and the increased motion it allows) make the shoulder more prone to instability events as compared with other joints. Although traumatic dislocations or instability events associated with acute labral tears (ie, Bankart lesions) are well described in the literature, there exists other special shoulder conditions that are also associated with shoulder instability: superior labrum anterior/posterior (SLAP) tears, pan-labral tears, and multidirectional instability...
September 2017: Sports Medicine and Arthroscopy Review
https://www.readbyqxmd.com/read/28763520/effect-of-a-calcaneo-tibial-screw-on-medial-and-lateral-stability-of-the-canine-tarsocrural-joint-ex-vivo
#6
Kevin R Frame, Janis P Bridges, Andrew J Worth
OBJECTIVE: To evaluate the use of a temporary calcaneo-tibial screw for stabilization of the tarsocrural joint in dogs with surgically treated collateral ligament injury. METHODS: The degree of varus and valgus laxity of the tarsocrural joint in various states of injury and stabilization was measured in paired cadaveric limbs of Greyhound dogs. The angle of varus or valgus laxity was calculated following simulated collateral ligament injury (long collateral ligament only, long and short collateral ligaments, and bilateral long and short collateral ligaments) and stabilization with a calcaneo-tibial screw...
August 1, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28758092/a-case-of-grisel-syndrome-showing-no-underlying-laxity-of-the-atlanto-axial-joint
#7
Ah-Reum Ahn, Yul-Hyun Park, Eun Ji Park, Shin-Young Yim
Grisel syndrome is a rare, non-traumatic atlanto-axial subluxation associated with an inflammatory or infectious process in the upper neck. According to the two-hit hypothesis, which is widely accepted for the pathogenesis of Grisel syndrome, preexisting ligamentous laxity of the atlanto-axial joint is regarded as the first hit. An inflammatory or infectious process of the atlanto-axial joint acts as the second hit, resulting in non-traumatic atlanto-axial subluxation. We report on a 6-year-old girl with atlanto-axial subluxation following retropharyngeal and cervical lymphadenitis...
June 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28748195/functional-brace-in-acl-surgery-force-quantification-in-an-in-vivo-study
#8
Robert F LaPrade, Melanie B Venderley, Kimi D Dahl, Grant J Dornan, Travis Lee Turnbull
BACKGROUND: A need exists for a functional anterior cruciate ligament (ACL) brace that dynamically supports the knee joint to match the angle-dependent forces of a native ACL, especially in the early postoperative period. PURPOSE/HYPOTHESIS: The purpose of this study was to quantify the posteriorly directed external forces applied to the anterior proximal tibia by both a static and a dynamic force ACL brace. The proximal strap forces applied by the static force brace were hypothesized to remain relatively constant regardless of knee flexion angle compared with those of the dynamic force brace...
July 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28745068/arthroscopic-capsular-shrinkage-for-treatment-of-chronic-lateral-ankle-instability
#9
Gwendolyn Vuurberg, Jasper S de Vries, Rover Krips, Leendert Blankevoort, Alex W F M Fievez, C Niek van Dijk
BACKGROUND: Capsular shrinkage is an arthroscopic stabilization technique that can be used in patients with chronic ankle instability (CAI), if desired in addition to primary arthroscopic procedures. Despite positive short-term results, long-term follow-up of these patients has not yet been performed. Therefore, our objective was to assess whether capsular shrinkage still provided functional outcome after 12-14 years compared to preoperative scores. METHODS: This study was a retrospective long-term follow-up of a prospectively conducted longitudinal multicenter trial...
July 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28742248/biallelic-col3a1-mutations-result-in-a-clinical-spectrum-of-specific-structural-brain-anomalies-and-connective-tissue-abnormalities
#10
Denise Horn, Eberhard Siebert, Ulrich Seidel, Imma Rost, Karin Mayer, Rami Abou Jamra, Diana Mitter, Uwe Kornak
Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c.1282C>T, p.(Arg428*) was detected in combination the c.2057delC, p.(Pro686Leufs*105) frame shift variant. Both compound heterozygous variants were novel. This patient was born with bilateral clubfoot, joint laxity, and dysmorphic facial features. At the age of 2 years she developed an aneurysmal brain hemorrhage...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28735299/identification-of-the-first-dominant-mutation-of-lama5-gene-causing-a-complex-multisystem-syndrome-due-to-dysfunction-of-the-extracellular-matrix
#11
Simone Sampaolo, Filomena Napolitano, Alfonsina Tirozzi, Mafalda Giovanna Reccia, Luca Lombardi, Olimpia Farina, Adriano Barra, Ferdinando Cirillo, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Giuseppe Di Iorio, Teresa Esposito
BACKGROUND: The laminin alpha 5 gene (LAMA5) plays a master role in the maintenance and function of the extracellular matrix (ECM) in mammalian tissues, which is critical in developmental patterning, stem cell niches, cancer and genetic diseases. Its mutations have never been reported in human disease so far. The aim of this study was to associate the first mutation in LAMA5 gene to a novel multisystem syndrome. METHODS: A detailed characterisation of a three-generation family, including clinical, biochemical, instrumental and morphological analysis, together with genetics and expression (WES and RNAseq) studies, was performed...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28712028/internal-femoral-component-rotation-adversely-influences-load-transfer-in-total-knee-arthroplasty-a-cadaveric-navigated-study-using-the-verasense-device
#12
William A Manning, Kanishka M Ghosh, Alasdair Blain, Lee Longstaff, Steven P Rushton, David J Deehan
PURPOSE AND HYPOTHESIS: Correct femoral component rotation at knee arthroplasty influences patellar tracking and may determine function at extremes of movement. Additionally, such malrotation may deleteriously influence flexion/extension gap geometry and soft tissue balancing kinematics. Little is known about the effect of subtle rotational change upon load transfer across the tibiofemoral articulation. Our null hypothesis was that femoral component rotation would not influence load across this joint in predictable manner...
July 15, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28712025/side-to-side-asymmetries-in-landing-mechanics-from-a-drop-vertical-jump-test-are-not-related-to-asymmetries-in-knee-joint-laxity-following-anterior-cruciate-ligament-reconstruction
#13
Christophe A G Meyer, Paul Gette, Caroline Mouton, Romain Seil, Daniel Theisen
PURPOSE: Asymmetries in knee joint biomechanics and increased knee joint laxity in patients following anterior cruciate ligament reconstruction (ACLR) are considered risk factors for re-tear or early onset of osteoarthritis. Nevertheless, the relationship between these factors has not been established. The aim of the study was to compare knee mechanics during landing from a bilateral drop vertical jump in patients following ACLR and control participants and to study the relationship between side-to-side asymmetries in landing mechanics and knee joint laxity...
July 15, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28673824/incorporating-ligament-laxity-in-a-finite-element-model-for-the-upper-cervical-spine
#14
Timothy L Lasswell, Duane S Cronin, John B Medley, Parham Rasoulinejad
BACKGROUND CONTEXT: Predicting physiological range of motion (ROM) using a finite element (FE) model of the upper cervical spine requires the incorporation of ligament laxity. The effect of ligament laxity can only be observed on a macro level of joint motion and is lost once ligaments have been dissected and preconditioned for experimental testing. As a result, although ligament laxity values are recognized to exist, specific values are not directly available in the literature for use in FE models...
June 30, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28661563/evaluation-of-a-new-methodology-to-simulate-damage-and-wear-of-polyethylene-hip-replacements-subjected-to-edge-loading-in-hip-simulator-testing
#15
Susan Partridge, Joanne L Tipper, Mazen Al-Hajjar, Graham H Isaac, John Fisher, Sophie Williams
Wear and fatigue of polyethylene acetabular cups have been reported to play a role in the failure of total hip replacements. Hip simulator testing under a wide range of clinically relevant loading conditions is important. Edge loading of hip replacements can occur following impingement under extreme activities and can also occur during normal gait, where there is an offset deficiency and/or joint laxity. This study evaluated a hip simulator method that assessed wear and damage in polyethylene acetabular liners that were subjected to edge loading...
June 29, 2017: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/28656782/impact-of-generalized-joint-laxity-on-plantar-loading-patterns-in-young-females
#16
Elif Aydın, Ayfer Metin Tellioğlu, Imran Kurt Ömürlü, Yasemin Turan
BACKGROUND: Generalized joint laxity is often associated with gait deviations. The aim of this study was to investigate the static and dynamic loading pattern of the foot with increasing joint mobility and to discuss the potential impact of this condition on the plantar loading patterns. METHODS: Seventy female participants between ages of 18 and 30 were included in this cross-sectional survey. The Beighton-Horan Joint Mobility Index scores were assessed and participants divided into 3 categories: no hypermobility (NH) group, scores 0 to 2; moderate hypermobility (MH) group, scores 3 to 4; distinct hypermobility (DH) group, scores 5 to 9...
August 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28642979/-medial-opening-wedge-high-tibial-osteotomy
#17
REVIEW
P Niemeyer, A Stöhr, M Köhne, A Hochrein
OBJECTIVE: Reduction of the load to the medial compartment in patients with medial knee osteoarthritis and varus malalignment. Unloading of the posterolateral complex in varus deformity with complex ligamentous laxity. INDICATIONS: Medial knee osteoarthritis and varus malalignment with largely intact lateral and patellofemoral joint aspect. Complex ligament insufficiency combined with varus deformity. CONTRAINDICATIONS: Substantially impaired range of motion...
August 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/28636299/-sprain-of-the-thumb-metacarpal-phalangeal-with-lesion-of-the-ulnar-collateral-ligament
#18
Thibault Poujade, Grégoire Chick
The sprain of the thumb metacarpal-phalangeal joint must be treated in an adapted way in order to avoid chronic laxity. The comparative and bilateral clinical exam is the main element that will allow to detect laxity. In the case of non laxity, a conservative treatment with a splint makes sense. In the case of laxity with Stener effect, a surgical procedure is recommended in order to reintegrate the collateral ligament. In the case of laxity without Stener effect, the choice of treatment is contentious. A US or MRI would be useful if the Stener effect could be underlying...
May 17, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28578458/coronal-plane-trunk-asymmetry-is-associated-with-whole-body-sagittal-alignment-in-healthy-young-adolescents-before-pubertal-peak-growth
#19
Mieke Dolphens, Andry Vleeming, René Castelein, Guy Vanderstraeten, Tom Schlösser, Frank Plasschaert, Lieven Danneels
PURPOSE: To investigate coronal plane trunk asymmetry (TA) and its association with sagittal postural alignment in healthy subjects before pubertal peak growth. METHODS: In this cross-sectional baseline study, 1190 healthy pre-peak growth velocity subjects were included. Coronal plane TA was evaluated using back surface topography. Whole-body sagittal alignment (previously validated and objectively classified as neutral, sway-back or leaning-forward) and sagittal spinopelvic profile (trunk lean, lumbar lordosis, thoracic kyphosis, sacral inclination and length of the posteriorly inclined thoracolumbar segment) were determined, as were height, proportion of trunk to body length, body mass index, generalized joint laxity, and handedness...
June 3, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28576272/juvenile-pubic-symphysiodesis
#20
REVIEW
Kathleen A Linn
In properly selected dogs, juvenile pubic symphysiodesis improves joint congruity, decreases hip laxity, and can reverse or prevent progression of degenerative joint disease in the hips. To be effective, surgery must be done at a young age and in hips that are only mildly to moderately lax. Juvenile pubic symphysiodesis is best viewed more as a preemptive procedure than as a strictly therapeutic one. Dogs considered to be at risk for hip dysplasia should be screened with Ortolani testing at 12 weeks of age, with further imaging and perhaps surgery to follow for those who have a positive Ortolani sign...
July 2017: Veterinary Clinics of North America. Small Animal Practice
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