Results 81 to 90 of about 28,233 (215)

Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesisResearch in context

EBioMedicine
Summary: Background: Lynch syndrome (LS) is one of the most common hereditary cancer syndromes worldwide. Dominantly inherited mutation in one of four DNA mismatch repair genes combined with somatic events leads to mismatch repair deficiency and ...
Marjaana Pussila, Aleksi Laiho, Petri Törönen, Pauliina Björkbacka, Sonja Nykänen, Kirsi Pylvänäinen, Liisa Holm, Jukka-Pekka Mecklin, Laura Renkonen-Sinisalo, Taru Lehtonen, Anna Lepistö, Jere Linden, Satu Mäki-Nevala, Päivi Peltomäki, Minna Nyström   +14 more
doaj   +1 more source

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

Epilepsia Open, EarlyView.
Abstract Objective Epileptic spasms (ES) in children carry a high risk of neurodevelopmental delay, yet predictors of long‐term surgical outcome remain incompletely defined. This study aimed to evaluate seizure outcomes following epilepsy surgery and to identify independent prognostic factors for postoperative recurrence.
Hua Li, Yao Wang, Qiang Guo, Junxi Chen, Kaihui Li, Danfang Li, Qinghua Tan, Jing Guo   +7 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Economic burden and cost determinants of epilepsy in Georgia: A longitudinal cost‐of‐illness study

Epilepsia Open, EarlyView.
Abstract Objective To assess the economic burden, cost components, and individual‐level determinants of outpatient epilepsy care in adults in Georgia. Methods This longitudinal study of epilepsy‐related costs in adults with active epilepsy attending a tertiary epilepsy centre in Tbilisi collected clinical and sociodemographic data over 6 months. Direct
Sofia Kasradze, Tamar Jishkariani, Eka Burkadze, Ketevan Mamasakhlisi, Marika Megrelishvili, Josemir W. Sander   +5 more
wiley   +1 more source

Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis

Clinical Epigenetics
Background Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are hereditary cancer predisposing syndromes characterized by increased risk of especially early-onset colorectal cancer.
Satu Mäki-Nevala, Anni Kauppinen, Alisa Olkinuora, Aleksi Laiho, Petri Törönen, Laura Renkonen-Sinisalo, Anna Lepistö, Toni T. Seppälä, Jukka-Pekka Mecklin, Päivi Peltomäki   +9 more
doaj   +1 more source

Clinical, Radiologic and Cytologic Predictors of Malignancy in Pediatric Thyroid Nodules: Insights From a 26‐Year Cohort Study

Head &Neck, EarlyView.
ABSTRACT Introduction Thyroid nodules are less common but more often malignant in pediatric patients than in adults. Our objectives were to study the features of benign vs. malignant thyroid nodules in a large pediatric patient cohort. Methods Retrospective observational cohort study. Consecutive patients aged 0.01–17.9 years at evaluation between 1997–
Maxime Gest‐Laurent, Adrien Nguyen Quoc, Christine Lefevre, Laura González‐Briceño, Caroline Thalassinos, Isabelle Flechtner, Dulanjalee Kariyawasam, Yamina Dassa, Magali Viaud, Dinane Samara‐Boustani, Graziella Pinto, Hervé Monpeyssen, Sabine Sarnacki, Vincent Couloigner, Michel Polak, Athanasia Stoupa   +15 more
wiley   +1 more source

La inestabilidad en microsatélites: algunos aspectos de su relación con el cáncer colorrectal hereditario no-polipoide Microsatellite instability: some aspects of their relation to hereditary nonpoliposis colorectal cancer

Revista Cubana de Investigaciones Biomédicas, 2005
Se hizo una revisión sobre el cáncer colorrectal hereditario no polipoide, el cual presenta la mayor incidencia dentro de los síndromes hereditarios que predisponen al cáncer colorrectal.
Darwyn Toledo González, Diana Cruz-Bustillo Clarens   +1 more
doaj  

Polimorfismos del gen P53 en cáncer mamario familiar en una población colombiana Polymorphism of the P53 gen in familial breast cancer in a colombian population study group

Revista Colombiana de Cirugía, 2007
Introducción: El gen p53 codifica para una proteína de 53 KD con importante función reguladora en procesos celulares como la proliferación, la muerte celular y la preservación del material genético.
Yadira Pinto, Milciades Ibáñez, Nelson Rangel, Sandra Ramírez, William Sánchez, Diego Vanegas   +5 more
doaj  

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Artificial Intelligence in Colonoscopy Surveillance for Lynch Syndrome: Emerging Evidence, Lessons Learned From Average‐Risk Populations, and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome and is characterized by an accelerated adenoma‐carcinoma sequence, a relatively higher prevalence of flat and subtle CRC precursor lesions, and exceptionally high adenoma miss rates despite intensive colonoscopy surveillance.
Robert Hüneburg, Querijn N. E. van Bokhorst, Evelien Dekker, Jacob Nattermann   +3 more
wiley   +1 more source