Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.

Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation. Ophthalmic Genet. 2020 Feb 20;:1-2 Authors: Nambiar PN, Kumar S S, Menon R, Nair SS, Madhavilatha GK, Sundaram S PMID: 32077773 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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CONCLUSIONS Potential pathogenic variants in ESR1 and ESR2 were identified in 113 AIS patients, suggesting that genetic mutations in ESR1/2 were associated with the risk of AIS. PMID: 32218412 [PubMed - as supplied by publisher]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
This study was designed to compare TEG® functional fibrinogen level (FLEV) with classic Clauss fibrinogen in patients undergoing scoliosis surgery and to evaluate the concordance between the two methods. METHODS: Patients in this study were part of a larger study evaluating the effect of fibrinogen concentrate (FC) supplementation on perioperative blood loss in scoliosis surgery. Paired samples for TEG® FF and Clauss fibrinogen assays were taken from 40 patients at three different timepoints perioperatively. The agreement between FLEV and Clauss was assessed, and the possibility of using FLEV measurements to p...
Source: International Journal of Laboratory Hematology - Category: Hematology Authors: Tags: Int J Lab Hematol Source Type: research
Conclusions: Lumbar fusion through CBT instrumentation would reduce FJV. Computer-assisted navigation resulted in a lower incidence of FJV. Percutaneous instrumentation with navigation assistance is not a risk factor for FJV. Special care should be taken in patients with body mass index ≥30 kg/m2, left-side screw, facet angle ≥45 degrees, and scoliosis. Level of Evidence: Level III.
Source: Journal of Spinal Disorders and Techniques - Category: Surgery Tags: Primary Research Source Type: research
CONCLUSIONS: A high index of suspicion is needed to diagnose sacral insufficiency fracture after LS arthrodesis. A trial of conservative management is reasonable for select patients; potential surgical indications include refractory pain, neurological deficit, fracture nonunion with anterolisthesis or kyphotic angulation, L5-S1 pseudarthrosis, and spinopelvic malalignment. Lumbopelvic fixation with iliac screws may be effective salvage treatment to allow fracture healing and symptom improvement. High-risk patients may benefit from prophylactic lumbopelvic fixation at the time of index LS arthrodesis. PMID: 32217798 [P...
Source: Journal of Neurosurgery.Spine - Category: Neurosurgery Authors: Tags: J Neurosurg Spine Source Type: research
AbstractPurposeTo investigate airway development and airway resistance by computed tomographic three-dimensional (3D) reconstruction of the bronchial tree in patients with adolescent idiopathic scoliosis (AIS). We evaluated factors predicting postoperative respiratory complications to provide timely treatment, prevent complications, and improve operative and anesthetic safety.MethodsFrom August 2015 to August 2017, 53 AIS patients with a mean age of 15.4  years (range 10–20 years) were included in this study. Scoliotic parameters on radiographs were analyzed. Airway resistance was obtained by pulmonary func...
Source: European Spine Journal - Category: Orthopaedics Source Type: research
Conclusion: Our observation demonstrates evidence of central nervous system involvement in adolescent idiopathic scoliosis (AIS). Lower intracortical inhibition, higher motor cortex excitability, and preserved spinal inhibitory circuits are the main findings of this study. A possible explanation of these changes could be attributed to impaired sensorimotor integration predominantly at the cortical level. PMID: 32202478 [PubMed - as supplied by publisher]
Source: Journal of Spinal Cord Medicine - Category: Orthopaedics Tags: J Spinal Cord Med Source Type: research
This study examined the ris...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Tags: Research article Source Type: research
Conclusions: In our study including female adolescents with idiopathic S shaped moderate scoliosis, plantar pressure and stabilometric parameters were influenced by the main scoliotic curve.
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
CONCLUSIONS: Mini-open anterolateral interbody fusion at the L5 S1 level is safe and results in fusion at the same rate as anterior interbody fusion. Most acute complications are minor and resolve spontaneously. PMID: 32197973 [PubMed - as supplied by publisher]
Source: Neurochirurgie - Category: Neurosurgery Tags: Neurochirurgie Source Type: research
Publication date: Available online 20 March 2020Source: Orthopaedics &Traumatology: Surgery &ResearchAuthor(s): Sébastien Pesenti, Solène Prost, Vincent Pomero, Guillaume Authier, Lionel Roscigni, Elke Viehweger, Benjamin Blondel, Jean-Luc Jouve
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
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