We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.61601 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Endoscopic mucosal resection and open-lid submucosal biopsy for the diagnosis of diffuse infiltrative gastric cancer: a retrospective observational study.
Scand J Gastroenterol
December 2024
Department of Gastroenterology and Hepatology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Background And Study Aims: Diffuse infiltrative gastric cancer can be difficult to diagnose owing to a lack of endoscopic features in the superficial mucosa. Moreover, a forceps biopsy may not reveal a pathological diagnosis. We aimed to evaluate the diagnostic yield and safety of endoscopic mucosal resection (EMR) and 'open-lid submucosal biopsy', a technique wherein EMR followed by biopsy of the ulcer floor is performed for a pathological diagnosis.
View Article and Find Full Text PDFFatal Spitz Melanoma With MAD1L1::BRAF Fusion: A Case Report and Literature Review.
J Cutan Pathol
December 2024
Drug Discovery and Development Division, Shizuoka Cancer Center Research Institute, Sunto, Japan.
Spitz melanoma is extremely rare, and only a few cases of distant metastases have been reported. Herein, we describe a case of Spitz melanoma with multiple distant metastases. A 37-year-old woman presented with a 5.
View Article and Find Full Text PDFEncapsulation and Sustained Release of Quercetin-Loaded pH-Responsive Intelligent Nanovehicles Based on the Coassembly of Pea Protein Isolate and Hyaluronic Acid.
J Agric Food Chem
December 2024
College of Food Science and Engineering, Northwest A&F University, Yangling 712100, Shaanxi, China.
A pea protein isolate (PPI)-hyaluronic acid (HA) nanocarrier delivery system was created for quercetin (Que) encapsulation using the pH conversion strategy. The self-assembly of the PPI-HA binary nanocomplex (HPP) were mainly driven by electrostatic and hydrophobic interactions. Que was successfully encapsulated in HPP nanocomposites (Que@HPP), which exhibited preferable redispersibility, and encapsulation efficiency (87.
View Article and Find Full Text PDFPhlegmonous Gastritis With Streptococcal Toxic Shock Syndrome: A Rare Complication After Endoscopy.
Cureus
November 2024
Department of Surgery, Bauchzentrum Rapperswil, Rapperswil, CHE.
Phlegmonous gastritis is a rare, suppurative bacterial infection of the gastric wall and one of the rarest complications after upper gastrointestinal endoscopy. The pathogenesis is not fully clear, but multiple risk factors have been described in literature as mucosal injury and achlorhydria. We report a case of a 76-year-old male with vomiting and epigastric pain, two days after an upper endoscopy, who presented in septic shock.
View Article and Find Full Text PDFRelease-modulating mechanism and comparative pharmacokinetics in beagle dogs of bethanechol-loaded oral dosage forms.
Int J Pharm
December 2024
Department of Pharmacy, College of Pharmacy, Ajou University, Suwon 16499, Republic of Korea; Institute of Pharmaceutical Science and Technology, Ajou University, Suwon 16499, Republic of Korea. Electronic address:
Bethanechol chloride (BTC), a quaternary ammonium compound used in bladder dysfunction treatment, requires challenges in developing optimal oral dosage forms due to its high water-solubility, short half-life, rapid elimination and four times a day administration. The aim of this study was to develop optimal BTC-loaded oral dosage forms that could provide both rapid onset and sustained therapeutic effects while reducing the frequency of conventional four-times-daily dosing (Mytonin® tablets). Four different BTC-loaded oral dosage forms were designed including gastro-retentive tablet (GRT), controlled-release tablet (CRT), bilayer tablet (BLT), and tablet-in-tablet (TIT).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!