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https://www.readbyqxmd.com/read/28327574/from-older-to-younger-intergenerational-promotion-of-health-behaviours-in-portuguese-families-affected-by-familial-amyloid-polyneuropathy
#1
Carla Roma Oliveira, Alvaro Mendes, Liliana Sousa
The role of older generations in families with hereditary diseases has been recognised and associated to their function as guardians of the family's medical history. However, research is scarce in examining the roles that older generations play in terms of health promotion and risk management towards younger generations, which is particularly evident with incurable genetically inherited disorders such as familial amyloid polyneuropathy (FAP) ATTR Val30Met. This qualitative exploratory study examines the roles that older generations play towards younger generations, in terms of health promotion and risk management, in families with FAP...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326574/tumour-epithelial-and-stromal-characteristics-of-hepatocellular-carcinomas-with-abundant-fibrous-stroma-fibrolamellar-versus-scirrhous-hepatocellular-carcinoma
#2
Young-Joo Kim, Hyungjin Rhee, Jeong Eun Yoo, Venancio A F Alves, Gi Jeong Kim, Hye Min Kim, Paulo Herman, Aline Chagas, Haeryoung Kim, Young Nyun Park
AIMS: The scirrhous variant of hepatocellular carcinoma (S-HCC) and fibrolamellar HCC (FL-HCC) are less common subtypes of HCC that are characterised by abundant fibrous stroma. Here, we aimed to investigate differences in the tumour microenvironment and the tumour epithelial cell characteristics of S-HCC and FL-HCC. METHODS AND RESULTS: Whole tissue sections of 17 S-HCCs and 9 FL-HCCs were subjected to immunohistochemical stains for K7, K19, EpCAM, CD56/NCAM, CD163, CD68, pSTAT3, FAP, CCN2 and Ki-67...
March 22, 2017: Histopathology
https://www.readbyqxmd.com/read/28317017/what-is-the-specific-appearance-and-real-frequency-of-gastric-neoplasia-in-fap-patients
#3
EDITORIAL
Jean-Christophe Saurin, Mathieu Pioche, Laura Calavas
No abstract text is available yet for this article.
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28314770/cribriform-morular-variant-of-papillary-thyroid-carcinoma-a-distinctive-type-of-thyroid-cancer
#4
REVIEW
Alfred King-Yin Lam, Nassim Saremi
The aim of this systematic review is to study the features of cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) by analysing the 129 documented cases in the English literature. The disease occurred almost exclusively in women. The median age of presentation for CMV-PTC was 24 years. Slightly over half of the patients with CMV-PTC had familial adenomatous polyposis (FAP). CMV-PTC presented before the colonic manifestations in approximately half of the patients with FAP. Patients with FAP often have multifocal tumours in the thyroid...
April 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28306719/chromosome-19q13-disruption-alters-expressions-of-cyp2a7-mia-and-mia-rab4b-lncrna-and-contributes-to-fap-like-phenotype-in-apc-mutation-negative-familial-colorectal-cancer-patients
#5
Lai Fun Thean, Yu Hui Wong, Michelle Lo, Carol Loi, Min Hoe Chew, Choong Leong Tang, Peh Yean Cheah
Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative familial CRC patients, enabling us to search for novel genes. We performed genome-wide scan on two affected siblings of one family and 88 ethnicity- and gender-matched healthy controls to identify deletions shared by the siblings. Combined loss of heterozygosity, copy number and allelic-specific copy number analysis uncovered 5 shared deletions...
2017: PloS One
https://www.readbyqxmd.com/read/28302482/fap-positive-fibroblasts-induce-immune-checkpoint-blockade-resistance-in-colorectal-cancer-via-promoting-immunosuppression
#6
Lingling Chen, Xiangting Qiu, Xinhua Wang, Jian He
Immune checkpoint blockades that significantly prolonged survival of melanoma patients have been less effective on colorectal cancer (CRC) patients. Growing evidence suggested that fibroblast activation protein-alpha (FAP) on cancer associate fibroblasts (CAFs) has critical roles in regulating antitumor immune response by inducing tumor-promoting inflammation. In this study, we explored the roles of FAP in regulating the tumor immunity and immune checkpoint blockades resistance in CRC experimental systems. We found that CAFs with high FAP expression could induce immune checkpoint blockade resistance in CRC mouse model...
March 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28296825/frequency-and-risk-factors-of-clostridium-difficile-infection-in-hospitalized-patients-with-pouchitis-a-population-based-study
#7
Gaurav Kistangari, Rocio Lopez, Bo Shen
BACKGROUND: Clostridium difficile infection (CDI) in patients with the ileal pouch after proctocolectomy has been increasingly recognized. We sought to evaluate the frequency and risk factors of CDI in patients with the primary or secondary discharge diagnosis of pouchitis in the United States. METHODS: We reviewed the National Inpatient Sample of the Healthcare Cost and Utilization Project and identified patients admitted for pouchitis with underlying inflammatory bowel disease (IBD) or familial adenomatous polyposis (FAP), between 2010 and 2012...
April 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28285810/-gastric-adenoma-of-pyloric-type-associated-with-familial-adenomatous-polyposis-a-rare-histological-type-not-to-be-overlooked
#8
Jérôme Didier, Peggy Dartigues, Ranya Soufan, David Malka, Pascal Burtin, Jean-Yves Scoazec
We report here two cases of gastric adenomas of pyloric type diagnosed during the follow-up of familial adenomatous polyposis (FAP). This rare histological lesion has been only recently described in this particular context and its clinical and pathological spectrum remains to be evaluated. Our two cases were very different in their clinical and endoscopic presentation. In the first patient, the lesion was diagnosed late during the evolution of FAP; it was very large and protruded above the adjacent mucosa; because of its large size, its treatment proved to be difficult...
March 9, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28282712/a-patient-with-desmoid-tumors-and-familial-fap-having-frame-shift-mutation-of-the-apc-gene
#9
Sanambar Sadighi, Mahsa Ghaffari-Moghaddam, Mojtaba Saffari, Mohammad Ali Mohagheghi, Reza Shirkoohi
Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis (FAP) as an extra-colonic manifestation of the disease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28271232/gastric-tumours-in-fap
#10
Sarah-Jane Walton, Ian M Frayling, Susan K Clark, Andrew Latchford
Gastric cancer is not a recognised extra-colonic manifestation of FAP, except in countries with a high prevalence of gastric cancer. Data regarding gastric adenomas in FAP are sparse. The aim of this study was to review the clinical characteristics of gastric tumours occurring within an FAP population from the largest European polyposis registry. All patients that developed a gastric adenoma or carcinoma were identified from a prospectively maintained registry database. The primary outcome measure was the occurrence of gastric adenoma or adenocarcinoma...
March 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28271094/clinical-outcomes-of-gastric-polyps-and-neoplasms-in-patients-with-familial-adenomatous-polyposis
#11
Keiko Nakamura, Satoru Nonaka, Takeshi Nakajima, Tatsuo Yachida, Seiichiro Abe, Taku Sakamoto, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Takahisa Matsuda, Shigeki Sekine, Yukihide Kanemitsu, Hitoshi Katai, Yutaka Saito, Seiichi Hirota
Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP...
March 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28269739/comparison-of-hexagonal-crystal-structures-between-fluorapatite-and-polytetrafluoroethylene
#12
REVIEW
Masayuki Okazaki
The crystallographic properties of fluorapatite (FAp) and polytetrafluoroethylene (PTFE) as biomedical materials were compared. Both materials contain fluorine and casually belong to the hexagonal crystal system. It is interesting that FAp is an inorganic ionic crystal, while PTFE is an organic covalent-bond crystal. Generally, fluorine contributes to the physicochemical stability and in some cases to the biocompatibility. The crystal structure of FAp was initially analyzed in 1930 by Náray-Szabó, although the analysis of hydroxyapatite (HAp) was markedly delayed until 1964...
2017: Bio-medical Materials and Engineering
https://www.readbyqxmd.com/read/28258930/the-impact-of-hospitalization-on-the-performance-of-capsule-endoscopy-ce
#13
Heinz Albrecht, Marcel Vetter, Wolfgang Dauth, Flavius Zoicas, Markus Friedrich Neurath, Alexander Fritzkarl Hagel
BACKGROUND: For proper evaluation of capsule endoscopy (CE), a complete examination is necessary. AIM: We evaluated risk factors of an incomplete CE with focus on patient hospitalization. METHODS: We retrospectively evaluated 161 consecutive patients who underwent CE between 01.07.2013 and 13.03.2016. Main indications were active bleeding, iron deficiency anemia (IDA), inflammatory bowel disease (IBD), abdominal pain, and familial adenomatous polyposis (FAP)...
February 20, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28252348/an-unusual-haemorrhagic-complication-of-an-anastomotic-leak-and-a-novel-method-of-controlling-the-haemorrhage
#14
S Martin, A Armstrong
Introduction Restorative proctocolectomy (RP) is undertaken for patients with familial adenomatous polyposis (FAP) and ulcerative colitis, but is associated with a risk of anastomotic leak. Case history A 20-year-old male with a family history of FAP had a RP with a double-stapled J-pouch and covering loop ileostomy. At ileostomy reversal 21 months later, he presented with significant anal bleeding. He proceeded to theatre for endoscopy. Pouchoscopy showed a pouch full of blood and a foreign object trapped in a diverticulum...
March 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28251731/field-assisted-paper-spray-mass-spectrometry-for-therapeutic-drug-monitoring-1-the-case-of-imatinib-in-plasma
#15
Sara D'Aronco, Mattia Dall'Armi, Sara Crotti, Eleonora Calandra, Pietro Traldi, Valerio Di Marco, Angela Buonadonna, Giuseppe Corona, Luciana Giodini, Elena Marangon, Bianca Posocco, Giuseppe Toffoli, Marco Agostini
The field-assisted paper spray (FAPS) - mass spectrometric method has been employed to quantify the imatinib (IMT) plasma levels in treated patients. The quantitative measurements have been performed on the collisionally generated fragment at m/z 394 of the protonated molecules of IMT and deuterated imatinib (d3 -IMT), used as internal standard. The FAPS-MS/MS method exhibits some limitations, due to the high number of operative parameters that need to be carefully controlled. For this aim paper supports of different geometry and different thickness and porosity were tested...
March 2, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28251376/the-treatment-of-desmoid-tumors-associated-with-familial-adenomatous-polyposis-the-results-of-a-japanese-multicenter-observational-study
#16
Yasuhiro Inoue, Hideyuki Ishida, Hideki Ueno, Hirotoshi Kobayashi, Tatsuro Yamaguchi, Tsuyoshi Konishi, Naohiro Tomita, Nagahide Matsubara, Fumio Ishida, Takao Hinoi, Yukihide Kanemitsu, Toshiaki Watanabe, Kenichi Sugihara
PURPOSE: Familial adenomatous polyposis (FAP)-associated desmoid tumor (DT) is sometimes life threatening. However, the optimal treatment for DTs has not been established. The aim of this study was to analyze the outcomes of surgical and pharmacological treatments for DT in Japanese FAP patients. METHODS: We retrospectively reviewed the data of 303 patients who underwent colectomy for FAP between 2000 and 2012. We analyzed 41 patients with DTs in which the location was apparent...
March 1, 2017: Surgery Today
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#17
REVIEW
Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28248733/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#18
Yong Huang, Sushila Dalal, Dionysios Antonopoulos, Nathaniel Hubert, Laura H Raffals, Kyle Dolan, Christopher Weber, Jeannette S Messer, Bana Jabri, Albert Bendelac, A Murat Eren, David T Rubin, Mitch Sogin, Eugene B Chang
BACKGROUND: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch...
February 13, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28248522/interfacial-nanostructure-and-asymmetric-electrowetting-of-ionic-liquids
#19
Zhen Liu, Tong Cui, GuoZhu Li, Frank Endres
In this work, the interfacial nanostructure and electrowetting of ionic liquids having the same 1-ethyl-3-methylimidazolium cation ([EMIm](+)) but different anions such as bis(trifluoromethylsulfonyl)imide (TFSI(-)), trifluoromethylsulfonate (TfO(-)), methylsulfonate (OMs(-)), acetate (OAc(-)), bis(fluorosulfonyl)imide (FSI(-)), dicyanamide (DCA(-)), and tris(pentafluorethyl)trifluorphosphat (FAP(-)) on bare metallic electrodes were investigated. In the investigated voltammetric potential regime, the contact angle versus voltage curve is asymmetric with respect to surface polarity...
March 9, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28247351/single-cell-gene-expression-profiling-of-skeletal-muscle-derived-cells
#20
Sole Gatto, Pier Lorenzo Puri, Barbora Malecova
Single cell gene expression profiling is a fundamental tool for studying the heterogeneity of a cell population by addressing the phenotypic and functional characteristics of each cell. Technological advances that have coupled microfluidic technologies with high-throughput quantitative RT-PCR analyses have enabled detailed analyses of single cells in various biological contexts. In this chapter, we describe the procedure for isolating the skeletal muscle interstitial cells termed Fibro-Adipogenic Progenitors (FAPs ) and their gene expression profiling at the single cell level...
2017: Methods in Molecular Biology
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