Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
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DOI: 10.1002/humu.24478
Abstract: Spondylo‐epi‐metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been… read more here.
Keywords: spondylo epi; primary ciliogenesis; joint laxity; epi metaphyseal ... See more keywords
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104340
Abstract: ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene… read more here.
Keywords: epileptic encephalopathy; joint laxity; elfn1 gene; gene ... See more keywords
Measuring Knee Joint Laxity in 3 DOF in vivo Using a Robotics- and Image-Based Technology.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of biomechanical engineering"
DOI: 10.1115/1.4053792
Abstract: Accurate and reliable information about 3D knee joint laxity can prevent misdiagnosis and avoid incorrect treatments. Nevertheless, knee laxity assessments presented in the literature suffer from significant drawbacks. In this study, we developed and demonstrated… read more here.
Keywords: laxity; methodology; robotics; joint laxity ... See more keywords
Assessment of Ankle Joint Laxity After an Acute Lateral Ankle Sprain: An Exploration Clinical CASE Series
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DOI: 10.1123/ijatt.2018-0004
Abstract: Joint integrity is compromised after an ankle sprain. However, little is known when comparing acute and subacute alterations after an ankle sprain to a preinjury baseline. The purpose of this study was to examine acute… read more here.
Keywords: lateral ankle; ankle sprain; ankle; joint laxity ... See more keywords
Does the Beighton Score Correlate With Specific Measures of Shoulder Joint Laxity?
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DOI: 10.1177/2325967118770633
Abstract: Background: Evaluation of shoulder joint laxity is an important component of the shoulder examination, especially in the setting of shoulder instability. Measures of generalized joint laxity, particularly the Beighton score, are often recorded and used… read more here.
Keywords: laxity; beighton score; joint laxity; shoulder joint ... See more keywords
Comparison of anterior knee laxity, stiffness, genu recurvatum, and general joint laxity in the late follicular phase and the ovulatory phase of the menstrual cycle
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DOI: 10.1186/s12891-021-04767-8
Abstract: Background One risk factor for anterior cruciate ligament (ACL) injury may be fluctuations in female hormones. This study examined variability in joint laxity, as a risk factor for ACL injury, during the menstrual cycle. Methods… read more here.
Keywords: phase; joint laxity; menstrual cycle; late follicular ... See more keywords
Joint Laxity/Hypermobility: Old Problems and New Opportunities for Family Medicine
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DOI: 10.15761/fmc.1000101
Abstract: Vastly under-recognized and tragically mistreated are the 20% of women and 10% of men whose tissues are more flexible and fragile than average [1]. Few opportunities for prevention and treatment exceed that of recognizing hypermobility,… read more here.
Keywords: medicine; hypermobility; joint laxity; hypermobility old ... See more keywords