Results 51 to 60 of about 33,043 (222)

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

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

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

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

Cold snare polypectomy effectively reduces polyp burden in familial adenomatous polyposis [PDF]

open access: yes, 2016
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

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

A massive abdominal wall desmoid tumor occurring in a laparotomy scar: A case report [PDF]

open access: yes, 2011
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

Holistic bone developing microenvironment engineered apoptotic extracellular vesicles recapitulate multidimensional developmental signatures in adult and senile bone repair

open access: yesInterdisciplinary Medicine, EarlyView.
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

Desmoid tumor mimicking cancer recurrence in a patient with colon cancer and Gardner syndrome: A case report

open access: yesSAGE Open Medical Case Reports
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]

open access: yes, 2009
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

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