577 research outputs found
Síndrome de turcot relato de dois casos
No full textOs autores descrevem dois pacientes com associação de polipose intestinal e tumor do sistema nervoso central (síndrome de Turcot), discutindo aspectos clínicos, genéticos e terapêuticos
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers
No full textAbstract
We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family with small bowel cancer. The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), and colorectal (paternal uncle) cancers. PMS2 genetic testing identified the nonsense 1951C>T (Q643X) and the missense 161C>T (S46I) mutations. PMS2 expression was absent in the proband's duodenal cancer with high microsatellite instability. The normal cells also displayed no PMS2 expression and some degree of instability. Our findings point out the association between PMS2 and TS, and support the hypothesis that patients with a few polyps, small bowel tumors with a very early onset, glioblastoma, and CALS should be considered as a variant of hereditary nonpolyposis colorectal cancer. A recessive model of inheritance caused by compound heterozygous mutations was consistent with the observed severe clinical phenotype and has important implications for predicting cancer risk in both the proband and his relatives
Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics
No full textWe investigated allelic profiles at microsatellite loci included in the AmpFlSTR® IdentifilerTM kit (Applied Biosystems, Foster City, CA, USA) as well as at additional microsatellite sequences (di- and monucleotide repeats) in a family with 3 siblings affected by central nervous systems (CNS) (2 siblings) or colorectal cancer (1 sibling). Based on clinical and molecular findings, a diagnosis of type 1 Turcot syndrome was established for this family. DNA isolated from normal intestinal mucosa and peripheral leukocytes of the patient with colorectal cancer was characterized by the presence of additional peaks that were not present in parental DNA. In markers included in the AmpFlSTR® IdentifilerTM kit, the sizes of the extra peaks were usually larger by one repeat unit than those of parentally derived alleles. The same peaks were observed when loci were amplified in singleplex PCR. It is important that professionals involved in forensic genetics be aware of the existence of a genetic condition that can cause a peculiar pattern of microsatellite alterations in constitutional DNA
L'oeuvre littéraire de Marie-Rose Turcot (1887-1977) étude de l'accueil et de personnages
No full textMarie-Rose Turcot est née à Laurierville, dans la région des Bois-Francs, le 2 juillet 1887. Entre 1920 et 1940, elle a publié quatre recueils de contes et nouvelles (L'homme du jour, 1920; Le Carrousel, 1928; Stephane Dugre, 1932 et Au pays des géants et des fées, 1937), deux romans (Nicolette Auclair, 1930; Un de Jasper, 1933) et un recueil de récits et poèmes évangéliques (Le Maître, 1940). Elle est décédée le 27 novembre 1977 à Orléans, en Ontario, à l'âge de quatre-vingt-dix ans. La première partie de notre mémoire dégage les caractéristiques sociales et culturelles du début du XXe siècle. En décrivant le champ littéraire des années 1920-1940, nous sommes en mesure de déterminer la place que Marie-Rose Turcot occupait dans la production de l'époque. Nous analysons également l'accueil de ses ¶uvres littéraires, tant dans sa correspondance que dans les revues et journaux. La seconde partie examine les oeuvres de fiction qui s'inscrivent dans un registre réaliste. Nous établissons certaines typologies afin de cerner les caractéristiques des personnages principaux et de quelques personnages secondaires. Enfin, grâce au schéma actanciel de Greimas, nous faisons ressortir les composantes des programmes narratifs de ces oeuvres. Ce mémoire apporte un regard original sur une écrivaine du début du siècle
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
No full textMicrosatellite instability (MSI) is present in hereditary conditions due to mismatch repair (MMR) gene mutations. Following MSI analysis, tumor samples are classified into MSS (stable), MSI-L (low instability), and MSI-H (high instability) based on the fraction of unstable loci. Another MSI-based classification takes into account the size difference between mutant alleles in tumor DNA compared to wild-type alleles; two types of MSI, A and B, are recognized using this approach, type A being characterized by smaller, more subtle allelic shifts compared to type B. Biallelic mutations of MMR genes are associated with pediatric cancers, including glial tumors, in Turcot syndrome type 1 (TS1). However, most TS1-associated gliomas so far analyzed did not display MSI. We investigated the frequency of MSI in a series of 34 pediatric gliomas of different grade using a panel of five mononucleotide quasimonomorphic markers. Subtle qualitative changes were observed for the majority of markers in two glioblastomas (5.9% of the total series and 33.3% of glioblastomas). In both cases, family histories were compatible with TS1, and mutations of the PMS2 and MLH1 genes were identified. In one family, the MSI patterns were compared between the glioblastoma and a colon cancer from an affected relative, showing a clear qualitative difference, with the former displaying type A and the latter type B instability, respectively. These results were confirmed using additional microsatellite markers, indicating that knowledge of the association between TS1-related glial tumors and subtle type A MSI is important for full ascertainment of TS1 patients and appropriate counselling. European Journal of Human Genetics (2009) 17, 919-927; doi:10.1038/ejhg.2008.271; published online 21 January 200
Clinical Gait Analysis of 100 patients with knee osteoarthritis before and one year after total knee athroplasty and 32 control pariticpants.
No full textThis database contains the clinical gait analysis of 100 patients undergoing total knee arthroplasty for end-stage knee osteoarthritis before and one year after surgery, as well as gait analysis of 33 control participants.
The data include:
- Participant's characteristics (Sex, Age, Height, BMI, side of surgery)
- Kinematic timeseries of the Trunk, Pelvis, Hip, Knee, Ankle and Foot Progression Angle computed with the Conventional Gait Model 1.0, before and one year after surgery.
- Kinematic features of the Trunk, Pelvis, Hip, Knee, Ankle and Foot Progression Angle, described in the associated paper [1], before and one year after surgery.
- Spatio-temporal parameters before and one year after surgery (walking speed, stride time, stride length, cadence, step time, step length, step width, foot off in % of gait cycle, percentage single support, percentage double support)
- Global scores of Patient Reported Outcome Measures before and one year after surgery (Pain during walking, 12-Item Short Form Survey Physical & Mental score, Western Ontario and McMaster Universities Arthritis Index for Pain & Function, Satisfaction 1 year after surgery..)
The data is associated with the following paper:
[1] Gasparutto X, Bonnefoy-Mazure A, Attias M, Turcot K, Armand S, Miozzari HH. Comprehensive analysis of total knee arthroplasty kinematics and functional recovery: Exploring full-body gait deviations in patients with knee osteoarthritis. PloS one. 2024;19(12):e0314991
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