Results 51 to 60 of about 21,448 (228)
Ketogenic diet for infantile epileptic spasms
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury +3 more
wiley +1 more source
Laparoscopic Total Colectomy for Familial Adenomatous Polyposis. A Case Report [PDF]
A 37-year-old woman was admitted to our hospital complaining of bloody stool. Barium enema and colonoscopy showed diffuse small polyps in colon and rectum,and two large polyps in the sigmoid colon.She was diagnosed as having familial adenomatous ...
平栗, 学 +8 more
core
The role of PLK1 in cancer exhibiting chromosomal instability
Adenomatous polyposis coli (APC) mutations cause aneuploidy and are responsible for familial adenomatous polyposis characterized by chromosomal instability. PLK1 contributes to sustain an intact spindle assembly checkpoint ensuring genomic stability.
Klaus Strebhardt +2 more
doaj +1 more source
Background and study aims To determine the clinical features associated with advanced duodenal and ampullary adenomas in familial adenomatous polyposis.
M. Sulbaran +10 more
doaj +1 more source
A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis
Objective: In some patients with adenomatous polyposis, an identifiable pathogenic variant of known associated genes cannot be found. Researchers have studied this for decades; however, few new genes have been identified.
Mengyuan Yang +6 more
doaj +1 more source
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 +15 more
wiley +1 more source
Desmoid Tumors in Familial Adenomatous Polyposis [PDF]
Familial adenomatous polyposis (FAP) is a cancer syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene. It is characterized by the presence of hundreds of colonic polyps, which have a high tendency to undergo malignant transformation.
De MARcHis M. L. +7 more
openaire +4 more sources
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 +11 more
wiley +1 more source
Càncer colorectal hereditari: Aplicacions diagnòstiques de l'estudi de la dosi dels gens APC, MLH1 i MSH2 [PDF]
[cat] Les síndromes de càncer colorectal (CCR) hereditari representen entre un 3% i un 5% de tots els casos de CCR i inclouen tots aquells individus amb un elevat grau d'agregació familiar.
Castellsagué Torrents, Ester
core
Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis [PDF]
Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade ...
Monument, Michael J +4 more
core +1 more source

