Search results for "model."
showing 10 items of 23664 documents
FGFR2mutation in 46,XY sex reversal with craniosynostosis
2015
Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…
Comparison of frictional resistance between passive self-ligating brackets and slide-type low-friction ligature brackets during the alignment and lev…
2019
Background To compare the frictional resistance between passive self-ligating brackets and conventional brackets with low-friction ligature under bracket/archwire and root/bone interface during dental alignment and leveling. Material and methods A tridimensional model of the maxilla and teeth of a patient treated with conventional brackets, and slide ligatures was generated employing the SolidWorks modeling software. SmartClip self-ligating brackets and Logic Line conventional brackets were assembled with slide low-friction ligatures, utilizing archwires with different diameters and alloys used for the alignment and leveling stage. Friction caused during the bracket/archwire interface and s…
A real life comparison of the effectiveness of adalimumab and golimumab in moderate-to-severe ulcerative colitis, supported by propensity score analy…
2018
Abstract Background Adalimumab and golimumab are effective in the treatment of moderate to severe ulcerative colitis. Aims We reported the comparative effectiveness of adalimumab and golimumab in ulcerative colitis. Methods 118 patients treated with adalimumab and 79 treated with golimumab were included and evaluated at 8 weeks and at the end of follow up. Results Overall clinical benefit was 72.6% at 8 weeks and 58.9% at the end of follow up. Patients with longer disease duration and those treated with adalimumab had a better outcome. Clinical benefit was 78.8% in adalimumab patients and 63.3% in golimumab patients (p = 0.026) after 8 weeks; it was 66.9% in adalimumab patients and 46.8% in…
Posterior stability in posterior-stabilized vs medially congruent total knee replacement: A radiological comparison of two polyethylene designs in a …
2020
Objective:The purpose of this radiological study was to assess the posterior laxity of a single model of a total knee arthroplasty design (TKA) having a medially constrained (MC) or a Posterior-Stabilized (PS) polyethylene insert using a well-documented stress x-ray. To the authors knowledge, this is the first report evaluating MC TKA outcomes according to the “kneeling view.”Materials and Methods:Sixty patients with non-traumatic primary knee osteoarthritis undergoing TKA were first matched by age, sex, BMI and diagnosis and then divided in two groups: group A (37 knees) received a MC TKA and group B (23 knees) a PS implant made by the same manufacturer. In all cases the posterior cruciate…
COL1A1 Sp1 polymorphism associates with bone density in early puberty.
2006
Optimal acquisition of bone mass in puberty is a key determinant of the lifetime risk of osteoporosis and has a strong genetic basis. We investigated the relationship between the COL1A1 Sp1 polymorphism and BMD in early puberty, and how the genotypes relate to bone size and geometry as well as bone turnover and material properties in 247 10- to 13-year-old girls. Bone properties were measured using DXA, pQCT, and ultrasound. Also, serum P1NP, OC, B-ALP, and TRACP 5b were assessed. Our results showed that girls with the TT genotype had significantly lower BMC and BMD of the total body, lumbar spine, and proximal femur, as well as BUA at the calcaneus, than those with the GT and GG genotype. …
On the control of a muscular force model including muscular fatigue
2015
Electromyostimulation has been used for several decades by athletes or physiotherapists in order to create a muscular reinforcement. However, the efficiency of electromyostimulation is limited by muscular fatigue and by induced pain. Currently, the systems of electromyostimulation do not adapt the stimulation parameters automatically by taking into account physiological parameters such as muscular fatigue. To adapt the stimulation parameters to muscular responses and in order to optimize the rehabilitation sessions, a control of force using an indicator of muscular fatigue could be used. In this paper, we propose two ways to control the force by using a physiological model which includes th…
IAPs: more than just inhibitors of apoptosis proteins.
2008
Inhibitors of apoptosis proteins (IAPs) are a conserved family of proteins identified in species ranging from virus, yeasts, nematodes, fishes, flies and mammals. The common structural feature is the presence of at least one Baculovirus IAP Repeat (BIR) domain. Hence, IAPs are also known as BIR-containing proteins (BIRCs). Most of them display anti-apoptotic properties when overexpressed. In drosophila, IAPs are sufficient and necessary to promote cell survival through a direct regulation of apoptotic proteases called caspases. In mammals, BIRC4/XIAP, the most studied IAP member can directly inhibit the activity of caspase-3, 7 and 9. However, this activity is not conserved in other IAPs an…
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
Influence of sutures configuration on the strength of tendon-patch joints for rotator cuff tears treatment
2019
Abstract Purpose Massive rotator cuff tears are common in the aging population. The incidence of failed rotator cuff repairs is still quite high, especially in the treatment of full-thickness tears or revision repairs. In this context, natural and synthetic meshes can be used as augmentation scaffolds or as devices to close the gap between a retracted tendon and the bone. The purpose of this work is to evaluate the ultimate tensile strength of different tendon-patch joints in order to consider their use in the treatment of massive cuff tears. Materials and methods Porcine tendons and a synthetic low-density polypropylene mesh have been used. A preliminary study on the tensile strength of te…
An update on the relationships between rheumatoid arthritis and atherosclerosis
2010
Rheumatoid arthritis is a chronic inflammatory disease. Cardiovascular events are the most important cause of mortality and morbidity in patients with rheumatoid arthritis. Beyond the traditional cardiovascular risk factors, chronic systemic inflammation has been shown to be a crucial factor in atherosclerosis development and progression from endothelial dysfunction to plaque rupture and thrombosis. Many studies have shown that atherosclerosis is not a passive event like accumulation of lipids in the vessel walls; by contrast, it represents an active inflammation of the vessels. Inflammatory cells such as macrophages, monocytes and T cells play important roles in the development of both rhe…