Joint Laxity/Hypermobility: Old Problems and New Opportunities for Family Medicine

Wilson, Golder N.

doi:10.15761/fmc.1000101

Cited by 4 publications

(5 citation statements)

References 12 publications

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“…Joint laxity or hypermobility is an important symptom in soft tissue pathologies [13]. The main cause of joint laxity is genetic factors.…”

Section: Discussionmentioning

confidence: 99%

The Association Between Joint Laxity and Post-Dural Puncture Headache

YILMAZ¹,

Çukurlu²

2023

Cureus

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This study aimed to investigate the relationship between joint laxity and post-dural puncture headache (PDPH). MethodsA total of 123 patients with PDPH -73 females and 50 males -were included in the study. The patients were examined regarding joint laxity and classified into two groups according to the Beighton score. Those with a Beighton score between 0 and 3 were classified as Group I, and those with a score greater than 4 were classified as Group II. Data related to the demographic characteristics of the patients, time of onset of PDPH, severity, need for medical treatment, need for an epidural blood patch, and length of hospital stay were recorded, and a comparison was made between the two groups. ResultsThere was no significant difference between the groups in terms of age, gender distribution, and PDPH onset time (p>0.05). In Group II, which included patients positive for joint laxity, total headache duration, headache severity, need for medical treatment, need for epidural blood patch, and hospital stay were significantly higher than in Group I (p<0.05). ConclusionJoint laxity may increase the risk of PDPH after spinal anesthesia and may affect treatment processes. The Beighton score can determine the development and severity of PDPH in patients with joint laxity. Assessing joint laxity and Beighton score can improve clinical decision-making in managing PDPH and positively affect patient outcomes.

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“…Joint laxity or hypermobility is an important symptom in soft tissue pathologies [13]. The main cause of joint laxity is genetic factors.…”

Section: Discussionmentioning

confidence: 99%

The Association Between Joint Laxity and Post-Dural Puncture Headache

YILMAZ¹,

Çukurlu²

2023

Cureus

View full text Add to dashboard Cite

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“…Novel association of genes with disease through genomic analyses unbiased by symptomatic targeting is particularly enlightening for complex, common, and multifactorial disorders like autism (Wilson and Tonk, 2018) or EDS (Wilson, 2018). Problems compromising the application of these remarkable genome-screening technologies include the interpretation of molecular change as well as its key complement, the matching of DNA variants with appropriate disease entities.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial Dysfunction Contributes to Ehlers-Danlos Syndrome - A Patient Presentation

Wilson¹,

Tonk²

2020

JBLS

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A female patient with substantial history and physical findings of Ehlers-Danlos syndrome by systematic evaluation had a variant in the gene encoding the sixth subunit of mitochondrial ATP synthetase gene that produced a change from glycine to aspartic acid at position 132 of the MT-ATP6 protein (MT-ATP6 m.8921G>A, p.Gly132Asp). The mutation was heteroplasmic, affecting 32% of the mitochondria in blood leucocytes, was qualified as a pathogenic variant because of its significant molecular change, but was not detected in the maternal blood sample as might be expected for its low degree of heteroplasmy. The patient was shown to have typical findings of Ehlers-Danlos syndrome by comparison of 48 history and physical findings in her and a peer group of 32 teenage females with that diagnosis. None of the classical neurosensory or developmental symptoms of mitochondrial disease were present in mother or daughter, but the patient had symptoms, metabolite alterations during rest or exercise, and muscle biopsy changes that suggested mild mitochondrial dysfunction. She also had heterozygous variants of uncertain significance in the nuclear PLOD1, FLNA, and ATP2A genes by concomitant whole exome sequencing that could also contribute to her arthritis-adrenaline disorder. Mitochondrial dysfunction is proposed to influence neuromuscular components of connective tissue, acting through an articulo-autonomic dysplasia cycle to cause the typical joint-skin laxity and dysautonomia of Ehlers-Danlos syndrome.

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“…Joint laxity or hypermobility is another biomarker of CTD, mainly the Type I (gravis type) and Type II (mitis type) EDS, Down's syndrome, Marfan syndrome, osteogenesis imperfecta, and benign joint hypermobility syndrome [40]. The joint laxity is maximal at birth, declining rapidly during childhood, less rapidly during the teens, and more slowly during adult life.…”

Section: Ctdsmentioning

confidence: 99%

Reinvestigation on Newer Facts to Anticipate, Avoid And Mitigate The Development of Post-Dural Puncture Headache-A Prospective Cohort Study

2021

IJOR

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Purpose: Various researchers have described the size and the type of spinal needle used for neuraxial anesthesia as the most common risk factor for developing postdural puncture headache (PDPH). Even though the occurrence of the PDPH is rare in modern anesthesia practice, we come across many such patients despite following all guidelines or precautions. Patient-related factors for developing PDPH are relatively understudied. For that, clinical features commonly present in such patients may require a thorough investigation. Methods: This prospective cohort study included fifty patients admitted for lower extremities orthopedic surgeries and developed PDPH following the neuraxial blockade. We screened all patients in this study for the presence or absence of common manifestations suggestive of connective tissue disorders (CTD). The other outcomes, like the effect of spinal needle size/type to develop PDPH and time to develop PDPH, were also measured. Results: Almost all PDPH patients included in this study had common features suggestive of CTD: the ligamentous laxity (96%), high-arched palate (96%), the blue sclera (45%), joint hyperextensibility (82%), and ejection clicks (64%). PDPH occurred more frequently with the 25G spinal needle of Quincke type than 27G of Whitacre type (82% vs. 18%). The mean (SD) headache freedom time was 73.14 (24.74) hours. Conclusions: The CTD might also be a causative factor responsible for the development of PDPH in some individuals. It can be considered a risk factor to anticipate, avoid, and mitigate the development of PDPH.

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Joint Laxity/Hypermobility: Old Problems and New Opportunities for Family Medicine

Cited by 4 publications

References 12 publications

The Association Between Joint Laxity and Post-Dural Puncture Headache

The Association Between Joint Laxity and Post-Dural Puncture Headache

Mitochondrial Dysfunction Contributes to Ehlers-Danlos Syndrome - A Patient Presentation

Reinvestigation on Newer Facts to Anticipate, Avoid And Mitigate The Development of Post-Dural Puncture Headache-A Prospective Cohort Study

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