Results 51 to 60 of about 33,043 (222)
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
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
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
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
Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis [PDF]
BACKGROUND AND STUDY AIMS: Familial adenomatous polyposis (FAP) is generally managed by colectomy, but in some cases surgery is delayed and polyp burdens are managed endoscopically.
Patel, Nedhi J. +2 more
core +1 more source
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
A massive abdominal wall desmoid tumor occurring in a laparotomy scar: A case report [PDF]
Introduction Desmoid tumors are benign but locally aggressive tumors of mesenchymal origin which are poorly circumscribed, infiltrate the surrounding tissue, lack a true capsule and are composed of abundant collagen.
Joseph K Wanjeri, Collins JO Opeya
core +2 more sources
The developing bone was identified as an M2a‐like macrophage driven immune microenvironment with multidimensional developmental signatures. hME‐ApoEVs were successfully fabricated via stimulating the M2a‐like developing microenvironment in vitro and confirmed its recapitulation of developmental features.
Xiaoran Yu +11 more
wiley +1 more source
Gardner syndrome, a subtype of familial adenomatous polyposis, features colorectal polyposis, osteomas and soft-tissue tumors with elevated colorectal carcinoma risk, and abdominal masses in these patients are easily misdiagnosed as malignant recurrence,
Jing Zhang, Yan Fu, Peng Zeng
doaj +1 more source
Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union [PDF]
BACKGROUND: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early ...
Anne Marie C. Plass +15 more
core +1 more source

