Search results for "EBR"
showing 10 items of 8329 documents
"Only Spinal Fixation" as Surgical Treatment of Cervical Myelopathy Related to Ossified Posterior Longitudinal Ligament: Review of 52 Cases.
2020
Background Ossification of the posterior longitudinal ligament (OPLL) is a hyperostotic condition resulting in a progressive narrowing of the spinal canal and subsequent neurologic deficits. Although systemic and local factors in combination with genetic abnormality have been considered in its etiopathogenesis, OPLL remains a poorly understood pathology. Surgical management of OPLL and the choice of the most appropriate treatment are still controversial issues. Here the authors report a series of OPLL-affected patients treated by “only-fixation” technique. Methods Between June 2012 and June 2019, 52 patients having OPLL were treated by a surgical strategy involving only spinal fixation with…
Lumbar spine mobility in Marfan syndrome
1993
Low back pain symptoms and lumbar spine mobility were assessed by questionnaires and by clinical and radiological measurements in 32 patients with Marfan syndrome. Frequently occurring low back pain was reported by 19% of the patients, but the disability was slight in all of them. Flexion and extension mobility of the lumbar spine (L1-S1) assessed from radiographs was 59.9 degrees and 13.2 degrees, respectively. Mean lumbar angular mobility between flexion and extension radiographs was 7.4 degrees at L1-2, 13.2 degrees at L2-3, 16.0 degrees at L3-4, 19.3 degrees at L4-5 and 18.3 degrees at L5-S1. No correlation was found between the manual assessment of lumbar segmental instability and radi…
Association between long-term exercise loading and lumbar spine trabecular bone score (TBS) in different exercise loading groups
2015
Objective: To examine whether different exercise loading is associated with lumbar vertebral texture as assessed with Trabecular Bone Score (TBS). Methods: Data from 88 Finnish female athletes and 19 habitually active women (reference group) were analyzed. Participants’mean age was 24.3 years(range 17-40 years).Athletes were divided into five specific exercise loading groups according to sport-specific training history: high-impact (triple jumpers and high jumpers), odd-impact (soccer players and squash players), high-magnitude (power lifters), repetitive impact (endurance runners), and repetitive non-impact (swimmers). TBS-values were determined from lumbar vertebral L1-L4 DXA images. Body…
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
2019
The S-Phase Cyclin A Associated Protein In The ER (SCAPER) gene is a ubiquitously expressed gene with unknown function in the brain. Recently, biallelic SCAPER variants were described in four patients from three families with retinitis pigmentosa (RP) and intellectual disability (ID). Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. The variants found comprise frameshift, nonsense, and missense variants as well as an intragenic homozygous deletion, which spans SCAPER exons 15 and 16 and introduces a frameshift and a premature stop codon. A…
Measurement of body composition in cancer patients using CT planning scan at the third lumbar vertebra
2019
Objective: the main objective was to assess body composition in terms of skeletal muscle index (SMI), myosteatosis, visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), and intermuscular adipose tissue (IMAT) as an adjunct of information provided by radiotherapy CT planning scan. Material and methods: a sample of 49 patients with lung and digestive cancers underwent a CT scan for radiotherapy treatment, which included measurements at the L3 region. Images were analyzed with a radiotherapy contouring software, using different Hounsfield Unit (HU) settings. Cross-sectional areas (cm2) were automatically computed by summing tissue pixels and multiplying by pixel surface area. Low …
Gemcitabine plus nab-paclitaxel until progression or alternating with FOLFIRI.3, as first-line treatment for patients with metastatic pancreatic aden…
2020
Abstract Background Chemotherapy is effective in metastatic pancreatic adenocarcinoma (mPA), but new approaches are still needed to improve patients' survival and quality of life. We have previously published good efficacy and tolerability results on a sequential treatment strategy of gemcitabine followed by an intensified FOLFIRI (5FU+irinotecan) regimen. In the present study, we evaluated the same sequence but replaced gemcitabine by the new gemcitabine + nab-paclitaxel standard first-line combination. Patients and methods We randomised chemotherapy-naive patients with proven mPA, bilirubin levels ≤1.5 upper limit of normal values and performance status 0–2 to alternately receive gemcitab…
Phase I dose-escalation of trifluridine/tipiracil in combination with oxaliplatin in patients with metastatic colorectal cancer
2019
Abstract Background and objectives Pre-clinical data have shown that combining trifluridine/tipiracil with oxaliplatin enhances anti-tumour activity compared with either monotherapy. A phase I dose-escalation study was conducted to determine the maximum tolerated dose (MTD), recommended dose (RD) for phase II and pharmacokinetic profile of this combination in patients with metastatic colorectal cancer (mCRC) who had progressed after at least 1 prior line of treatment. Methods Using a 3 + 3 design, patients received escalating trifluridine/tipiracil doses from 25, then 30 and to 35 mg/m2 twice daily, days 1–5, q14 days, together with a fixed dose of 85 mg/m2 of oxaliplatin day 1, q14 days. A…
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B
2017
To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease.A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements.Nineteen patients aged 1.6-31.7 years were enrolled. Over 12 months, cognition,…
Breakdown of Thalamo-Cortical Connectivity Precedes Spike Generation in Focal Epilepsies
2017
Electroencephalography (EEG) spikes and focal epileptic seizures are generated in circumscribed cerebral networks that have been insufficiently described. For precise time and spatial domain network characterization, we applied in patients with focal epilepsy dense array 256-channel EEG recordings with causal connectivity estimation by using time-resolved partial directed coherence and 3T-magnetic resonance imaging-derived cortical and thalamus integrity reconstruction. Before spike generation, significant theta and alpha bands driven information flows alterations were noted from both temporal and frontal lobes to the thalamus and from the thalamus to the frontal lobe. Medial dorsal and ven…