Results 51 to 60 of about 37,501 (261)

Cannabidiol in Anorexia Nervosa: A Double‐Blind Randomized Placebo Controlled Pilot Study to Test Safety, Pharmacokinetics, and Symptom Change

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa (AN) is a severe psychiatric disorder marked by an intense fear of gaining weight and persistent body dissatisfaction, both during periods of underweight and after weight restoration. The endocannabinoid system may offer therapeutic benefits, particularly in reducing anxiety.
Neha Sahota, David J. Grelotti, Tyler Nguyen, Walter H. Kaye, Skylar Swindle, Raymond Suhandynata, Spencer Seely, Megan E. Shott, Guido K. W. Frank   +8 more
wiley   +1 more source

Colorectal Carcinoma in a Young Male Diagnosed as Lynch Syndrome with a Rare PMS2 Pathogenic Germline Variant: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Colorectal cancers in young people can be due to inherited mutations in 5-10% of cases, among which Lynch syndrome is the most common. Lynch syndrome is defined as a genetic susceptibility to various types of cancer, with non polyposis colorectal cancer ...
Vijayashree S Gokhale, Vineetha Naga Lakshmi Giduturi, Mahabir Prasad Mishra, Mayur Ambekar, Dnyanada Shrirang Gokhale-Agashe   +4 more
doaj   +1 more source

Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer

Hereditary Cancer in Clinical Practice, 2021
Background Lynch syndrome is caused by germline mutations in the mismatch repair genes and is characterised by a familial accumulation of colorectal and other cancers.
Sophie Walton Bernstedt, Jan Björk, Kaisa Fritzell, Allan D. Spigelman, Erik Björck, Ann-Sofie Backman   +5 more
doaj   +1 more source

Haematuria in Association with Lynch Syndrome

Clinics and Practice, 2012
A 40-year-old Caucasian male presented to the Emergency Department complaining of intermittent painless frank haematuria. Past medical history was significant for Hereditary Non-Polyposis Colon Cancer (HNPCC) and a prophylactic total colectomy. Computed tomography urogram showed thickening in the posterior wall of the bladder. Cystoscopy showed a small
Marwan Ma'ayeh, Richard Power, Deirdre Mary Fanning   +2 more
openaire   +3 more sources

Caracterització i identificació de les formes hereditàries de càncer colorectal [PDF]

, 2008
[cat] El càncer colorectal (CCR) és una de les neoplàsies més prevalents en els països occidentals, i un dels tumors en el que els factors genètics juguen un paper fonamental en el seu desenvolupament.
Balaguer Prunés, Francesc
core  

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Living at genetic risk: The patient experience of Lynch syndrome

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain,
Nicola Reents, Georgina Hoffmann, Kelly Kohut   +2 more
wiley   +1 more source

Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review

Hereditary Cancer in Clinical Practice
Background Lynch syndrome is due to error in DNA mismatch repair (MMR) genes caused by germline pathogenic variants. For some families highly suspicious of Lynch syndrome, the diagnosis may not be confirmed.
Wenche Sjursen, Eva Kathrine Svaasand, Bodil Gilde, Anuradha Ravi, Katinka Madtzog Korseth, Ashish Kumar Singh, Jostein Johansen, Olaug Kristin Rødningen, Sofie Geck Sevatdal, Siv Anita Hegre, Maren Fridtjofsen Olsen, Kristine Misund   +11 more
doaj   +1 more source

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

Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers

BMC Medical Genomics, 2022
Background DNA methylation (DNAm) age metrics have been widely accepted as an epigenetic biomarker for biological aging and disease. The purpose of this study is to assess whether or not individuals carrying Lynch Syndrome-associated mutations are ...
Marta Cuadros, Carlos Cano, Sonia Garcia-Rodriguez, José Luis Martín, Antonio Poyatos-Andujar, Francisco Ruiz-Cabello, Susana Pedrinaci, Gema Durán, Manuel Benavides, María Dolores Bautista-Ojeda, Teresa Pereda, Maria Soledad Benitez-Cantos, Pedro Medina, Armando Blanco, Antonio Gonzalez, Paul Lizardi   +15 more
doaj   +1 more source