Results 51 to 60 of about 21,448 (228)

Ketogenic diet for infantile epileptic spasms

open access: yesEpilepsia Open, EarlyView.
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]

open access: yes, 2001
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

open access: yesMolecular & Cellular Oncology, 2018
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

Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study

open access: yesEndoscopy International Open, 2018
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

open access: yesCancer Biology & Medicine, 2021
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

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

open access: yesHead &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   +15 more
wiley   +1 more source

Desmoid Tumors in Familial Adenomatous Polyposis [PDF]

open access: yesAnticancer Research, 2017
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

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

open access: yesInternational 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   +11 more
wiley   +1 more source

Càncer colorectal hereditari: Aplicacions diagnòstiques de l'estudi de la dosi dels gens APC, MLH1 i MSH2 [PDF]

open access: yes, 2009
[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]

open access: yes, 2012
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

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