Teenager with curved spine fulfills her dream of performing on a trapeze

Louise Stewart-Scott, 14, of Jersey, has Ehlers-Danlos syndrome, causing hypermobility and her joints to dislocate. She also suffers from scoliosis, an abnormal curvature in her spine.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Conclusions: We found that 8% of patients in our included studies required reoperation due to ASD. Our analysis also revealed that longer fusion constructs correlated with a higher rate of subsequent revision surgery. Therefore, the surgeon should limit the number of fusion levels if possible to reduce the risk of future reoperation due to ASD. Level of evidence: IV
Source: Journal of Craniovertebral Junction and Spine - Category: Orthopaedics Authors: Source Type: research
Conclusion: Our data suggest that scoliosis correction with sublaminar fixation is not inferior to treatment with hooks and/or pedicle screws. Level of Evidence: III.
Source: Journal of Craniovertebral Junction and Spine - Category: Orthopaedics Authors: Source Type: research
Conclusions: Our study provides Level III evidence that CCQ represents a promising alternative or a complementary method to the traditional Cobb angle due to its simple and reliable ability to measure the magnitude of the curve.
Source: Journal of Craniovertebral Junction and Spine - Category: Orthopaedics Authors: Source Type: research
Adjacent segment disease (ASD) is an acknowledged problem of posterior lumbar interbody fusion (PLIF). Many studies have been reported concerning the role of lordosis distribution index (LDI) in spinal biomechani...
Source: Journal of Orthopaedic Surgery and Research - Category: Orthopaedics Authors: Tags: Research article Source Type: research
We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases. PMID: 32174067 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy. Using the past criteria for kEDS there was considerable overlap with the clinical diagnostic criteria for...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Conclusions To our knowledge, this is the first case report of dAVF associated with LDS. The relationship between LDS and dAVF is unknown but this report shows the possibility that mutation of transforming growth factor β receptors 2 ( TGFBR2) related to LDS may be related to shunt diseases. Because intervention in LDS seems to be feasible compared to Ehlers Danlos syndrome and Marfan syndrome, it is important to make the correct diagnosis. PMID: 28304197 [PubMed - in process]
Source: Interventional Neuroradiology - Category: Radiology Tags: Interv Neuroradiol Source Type: research
Just when you thought your brain could unwind on a Friday, you realise that it would rather be challenged with some good old fashioned medical trivia…introducing Funtabulously Frivolous Friday Five 120 Question 1 What rheumatological condition does Rembrandt’s Scholar have? + Reveal the Funtabulous Answer expand(document.getElementById('ddet1210722826'));expand(document.getElementById('ddetlink1210722826')) Scleroderma He has a pinched nose, tight mouth, pale face with a malar flush, his hands are puffy and the joints on his right thumbs are swollen. Could this be Scleroderma? [Reference] Question 2 When Ra...
Source: Life in the Fast Lane - Category: Emergency Medicine Authors: Tags: Frivolous Friday Five collapse dentist FFFF hands Kluver-bucy syndrome melanoma pleural collapse rachmaninoff rachmaninov Rembrandt scleroderma TB teeth temporal lobe Source Type: blogs
Background: Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome. Life-threatening complications of aortic aneurysm can be decreased through early diagnosis. Genetic screening for mutations in populations at risk, such as patients with adolescent idiopathic scoliosis, may improve recognition of these disorders. Methods: The coding regions of five clinically actionable genes associated with scoliosis (COL3A1, FBN1, TGFBR1, TGFBR2, and SMAD3) and aortic aneurysm were sequenced in 343 adolescent i...
Source: The Journal of Bone and Joint Surgery - Category: Orthopaedics Authors: Tags: Pediatrics, Spine Scientific Articles Source Type: research
Conclusions: Though these syndromes have been classically grouped together under the umbrella term “syndromic,” there may be specific needs for patients with each of these ailments. Given the high rate of complications, further research is necessary to understand the unique needs for each of these patient groups in the preoperative, intraoperative, and postoperative settings.
Source: Scoliosis - Category: Orthopaedics Authors: Source Type: research
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