PubMed Journals Articles About "Trial Of ERapa To Prevent Progression In Familial Adenomatous Polyposis Patients Under Active Surveillance" RSS

04:58 EST 18th February 2020 | BioPortfolio

Trial Of ERapa To Prevent Progression In Familial Adenomatous Polyposis Patients Under Active Surveillance PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Trial Of ERapa To Prevent Progression In Familial Adenomatous Polyposis Patients Under Active Surveillance articles that have been published worldwide.

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Showing "Trial eRapa Prevent Progression Familial Adenomatous Polyposis Patients" PubMed Articles 1–25 of 43,000+

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect.

Mental Health Symptoms in Patients With Familial Adenomatous Polyposis: An Observational Study.

Almost all patients with familial adenomatous polyposis undergo abdominal surgery with a risk of disease and surgery-related complications. This, the familial nature of the syndrome, and its wide-ranging manifestations make patients prone to mental health symptoms. If this is true, patients need appropriate evaluation and treatment.

Robotic Assisted Proctocolectomy with Ileal Pouch-Anal Anastomosis in a Case of Suspected Hereditary Polyposis.

Various forms of hereditary polyposis have been described in the literature. Classical familial adenomatous polyposis (FAP) is a rare, autosomal dominantly inherited disease which is caused by a germline mutation in the adenomatous polyposis coli gene (APC). Patients with this diagnosis successively develop multiple polyps of the colon. Left untreated, FAP almost inevitably leads to malignant transformation.

Long-term clinical outcomes and follow-up status in Japanese patients with familial adenomatous polyposis after radical surgery: a descriptive, retrospective cohort study from a single institute.

Data on long-term outcomes of familial adenomatous polyposis (FAP) are unclear in Japan because a nationwide registry system is lacking. We assessed overall survival, incidence of neoplasms, fecal incontinence, and postoperative follow-up status of patients with FAP treated surgically in our hospital.

Phenotypic variations of gastric neoplasms in familial adenomatous polyposis are associated with the endoscopic status of atrophic gastritis.

Gastric neoplasms (GNs), including gastric adenoma and carcinoma, are well known as extracolonic manifestations of familial adenomatous polyposis (FAP). We aimed to investigate the clinicopathological features of GNs in FAP patients and to clarify their relationship with the endoscopic status of the background mucosa.

Efficacy of Full-Spectrum Endoscopy to Visualize the Major Duodenal Papilla in Patients with Familial Adenomatous Polyposis.

Duodenal cancer is one of the extracolonic malignancies with known mortality in familial adenomatous polyposis (FAP) patients. Visualization of the major duodenal papilla (MDP) with a standard esophagogastroduodenoscopy (EGD) is currently insufficient because of the limited field of view. Full-spectrum endoscopy (FUSE), utilizing double imagers located on the front and side of the endoscopic tip, provides a wider field of view up to 245 degrees. The aim of this study was to evaluate the efficacy of FUSE in ...

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited disease caused by germline variants in the APC gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result. It can be responsible for an autosomal recessive inherited colorectal cancer syndrome (MAP syndrome: MUTYH-associat...

Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes to multiple malignancies, most commonly colorectal carcinoma, but has rarely been associated with lymphoma. We discuss one patient found to have Burkitt-like Lymphoma (BLL) with 11q aberration in the setting of previously undiagnosed FAP. We review the literature of FAP and associated malignancies and the provisional WHO classification of Burkitt-like lymphoma with 11q aberration. Both FAP and Burkitt-like lymphoma with...

In patients with a positive family history of familial adenomatous polyposis (FAP) can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) detected via an eye examination: A systematic review.

In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is the earliest and most common potential extraintestinal manifestation of FAP. This review aims to summarize and analyze all of the published data on CHRPE in patients with classic FAP and then ascertain whether these patients should undergo a relatively cheap and non-invasive dilated fundus examination to screen for CHRPE. Adhering to...

Abnormal Biliary Mucosa Uncovered in a Familial Adenomatous Polyposis (FAP) Patient.

Robotic Top-Down Intersphincteric Resection With IPAA for Familial Adenomatous Polyposis With Distal Rectal Cancer.

Practical management of polyposis syndromes.

Hereditary bowel tumours are usually part of a distinct syndrome which require management of both intestinal and extra-intestinal disease. Polyposis syndromes include: Familial adenomatous polyposis, MUTYH-associated polyposis, Serrated polyposis syndrome, Peutz-Jeghers syndrome, Juvenile polyposis syndrome and PTEN-hamartomatous syndromes. Of all colorectal cancers (CRC), 5%-10% will be due to an underlying hereditary CRC syndrome. Diagnosis and management of polyposis syndromes is constantly evolving as n...

Familial adenomatosis polyposis-related desmoid tumours treated with low-dose chemotherapy: results from an international, multi-institutional, retrospective analysis.

Desmoid tumour (DT) is a locally aggressive fibroblastic proliferative disease representing the most common extraintestinal manifestation of familial adenomatosis polyposis (FAP). As data on the activity of chemotherapy in these patients are limited, we examined the outcomes of patients treated with low-dose methotrexate (MTX)+vinca alkaloids (vinorelbine or vinblastine).

The Somatic Mutation Hit on Top of Genetic APC mutations Cause Skin Tumor.

Inactivation of the adenomatous polyposis coli (APC) gene is the initiating event in familial adenomatous polyposis (FAP) patients. Up to 90% of FAP patients show intestinal tumors and other extracolonic malignancies including hepatoblastomas, desmoid tumors, and brain cancer. APC mutation mice (Apc mice) develop benign polyps in the intestinal tract. It has been reported that small numbers of Apc mice develop breast carcinomas. Here, we found that approximately 1.6% of Apc mice suffered skin neoplasm. The...

An open-label continuation trial of tocilizumab for familial Mediterranean fever with colchicine ineffective or intolerance: Study protocol for investigator-initiated, multicenter, open-label trial.

Colchicine is the first-line treatment for familial Mediterranean fever (FMF), but secondary amyloidosis resulting from persistent inflammation is a concern in patients with colchicine-resistant or colchicine-intolerant FMF. Although tocilizumab (TCZ), which is a recombinant, humanized, anti-human interleukin 6 receptor monoclonal antibody, has been reported to prevent FMF attacks, the long-term safety and efficacy of TCZ on individuals with colchicine-resistant or colchicine-intolerant FMF have not been ev...

A rare case of the recurrent surgery for cribriform-morular variant of papillary thyroid carcinoma.

The cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is an uncommon subtype of PTC, and it is associated with familial adenomatous polyposis (FAP).

Hereditary Gastrointestinal Cancer Syndromes: Role of Imaging in Screening, Diagnosis, and Management.

Hereditary gastrointestinal (GI) cancer syndromes due to specific germline mutations are characterized by an increased risk of GI tract malignancies, extra-GI tract cancers, and benign abnormalities. These syndromes include Lynch syndrome, familial adenomatous polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome, Cowden syndrome, hereditary diffuse gastric cancer, and hereditary pancreatic cancer. Timely identification of the responsible genes will help predict future cancer risks in these patient...

Loss of adenomatous polyposis coli function renders intestinal epithelial cells resistant to the cytokine IL-22.

Interleukin-22 (IL-22) is a critical immune defence cytokine that maintains intestinal homeostasis and promotes wound healing and tissue regeneration, which can support the growth of colorectal tumours. Mutations in adenomatous polyposis coli gene (Apc) are a major driver of familial colorectal cancers (CRCs). How IL-22 contributes to APC-mediated tumorigenesis is poorly understood. To investigate IL-22 signalling in wild-type (WT) and APC-mutant cells, we performed RNA sequencing (RNAseq) of IL-22-treated ...

Dupilumab improves health-related quality of life in patients with chronic rhinosinusitis with nasal polyposis.

Chronic rhinosinusitis with nasal polyposis (CRSwNP) negatively affects health-related quality of life (HRQoL). In a previously reported randomized clinical trial (NCT01920893), addition of dupilumab to mometasone furoate in patients with CRSwNP refractory to intranasal corticosteroids (INCS) significantly improved endoscopic, radiographic, and clinical endpoints and patient-reported outcomes. The objective of this analysis was to examine the impact of dupilumab treatment on HRQoL and productivity using sec...

High miR-133a levels in the circulation anticipates presentation of clinical events in familial hypercholesterolemia patients.

Presentation of acute events in patients with atherosclerosis remains unpredictable even after controlling for classical risk factors. MicroRNAs (miRNAs) measured in liquid biopsies could be good candidate biomarkers to improve risk prediction. Here, we hypothesized that miRNAs could predict atherosclerotic plaque progression and clinical event presentation in familial hypercholesterolemia (FH) patients.

SATB1 Expression of Colorectal Adenomatous Polyps is Higher than that of Colorectal Carcinomas.

"Special AT-rich sequence-binding protein-1" (SATB1) is a global genome organizer and is found to have effects on carcinogenesis and progression of various malignancies including colorectal carcinoma (CRC). We aimed to investigate the expression of SATB1 in CRC and colorectal adenomatous polyps (CAP), the correlation between clinicopathologic parameters, and overall survival. We examined 227 CRCs and 129 CAPs. SATB1 protein expression was evaluated by immunohistochemistry. We found higher SATB1 expression i...

Lower Gastrointestinal Conditions: Colorectal Cancer Screening and Prevention.

Colorectal cancer (CRC) is the third most commonly diagnosed malignancy and the second most common cause of cancer mortality worldwide. It was estimated that approximately 50,630 mortalities due to CRC would occur in the United States in 2018. Seventy percent of CRC originates from adenomatous polyps that become dysplastic over time. Risk factors for CRC include genetic syndromes, such as familial polyposis syndromes and Lynch syndrome; inflammatory bowel disease; dietary and lifestyle factors; and family h...

Prolyl Hydroxylase Inhibition Mitigates Pouchitis.

Pouchitis is the most common long-term complication after restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) for ulcerative colitis (UC) or familial adenomatous polyposis (FAP), which can eventually progress to pouch failure, necessitating permanent stoma construction. Hypoxia-inducible transcription factor prolyl hydroxylase-containing enzymes (PHD1, PHD2, and PHD3) are molecular oxygen sensors that control adaptive gene expression through hypoxia-inducible factor (HIF). Emerging evidence...

Body mass index in psoriatic patients with or without familial psoriasis.

Psoriasis is a chronic inflammatory disease caused by both genetic and environmental factors. The occurrence of psoriasis in family members indicates a genetic predisposition, while obesity is also a major contributor to psoriasis. We examined whether patients with versus without familial psoriasis were obese at the onset of psoriasis. Clinical information, including age at onset, age at first visit and body mass index (BMI) at first visit, was extracted from the Fukuoka University Psoriasis Registry. To co...

Ropinirole Hydrochloride for ALS.

Our laboratory previously established spinal motor neurons (MN) from induced-pluripotent stem cells (iPSCs) prepared from both sporadic and familial ALS patients, and successfully recapitulated disease-specific pathophysiological processes. We next searched for effective drugs capable of slowing the progression of ALS using a drug library of 1232 existing compounds and discovered that ropinirole hydrochloride prevented MN death. In December 2018, we started an investigator-initiated clinical trial testing r...

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