keyword
https://read.qxmd.com/read/37204622/monogenic-diabetes-with-gata6-mutations-characterization-of-a-novel-family-and-a-comprehensive-analysis-of-the-gata6-clinical-and-genetics-traits
#1
JOURNAL ARTICLE
Xing Yue, Yaheng Luo, Jing Wang, Debin Huang
Monogenic diabetes caused by GATA6 mutations were almost described as neonatal diabetes, and the phenotypic spectrum has expanded since then. Our study underscores the broad phenotypic spectrum by reporting a de novo GATA6 mutation in a family. Furthermore, we reviewed related literature to summarize the clinical and genetic characteristics of monogenic diabetes with GATA6 mutations (n = 39) in order to improve clinicians' understanding of the disease. We conclude that the GATA6 missense mutation (c...
May 18, 2023: Molecular Biotechnology
https://read.qxmd.com/read/30733316/melanocortin-1-receptor-targeted-%C3%AE-particle-therapy-for-metastatic-uveal-melanoma
#2
JOURNAL ARTICLE
Narges K Tafreshi, Christopher J Tichacek, Darpan N Pandya, Michael L Doligalski, Mikalai M Budzevich, HyunJoo Kil, Nikunj B Bhatt, Nancy D Kock, Jane L Messina, Epifanio E Ruiz, Nella C Delva, Adam Weaver, William R Gibbons, David C Boulware, Nikhil I Khushalani, Ghassan El-Haddad, Pierre L Triozzi, Eduardo G Moros, Mark L McLaughlin, Thaddeus J Wadas, David L Morse
New effective therapies are greatly needed for metastatic uveal melanoma, which has a very poor prognosis with a median survival of less than 1 y. The melanocortin 1 receptor (MC1R) is expressed in 94% of uveal melanoma metastases, and a MC1R-specific ligand (MC1RL) with high affinity and selectivity for MC1R was previously developed. Methods: The 225 Ac-DOTA-MC1RL conjugate was synthesized in high radiochemical yield and purity and was tested in vitro for biostability and for MC1R-specific cytotoxicity in uveal melanoma cells, and the lanthanum-DOTA-MC1RL analog was tested for binding affinity...
August 2019: Journal of Nuclear Medicine
https://read.qxmd.com/read/30718698/gadoxetic-acid-enhanced-hepatobiliary-phase-magnetic-resonance-imaging-for-pyrrolizidine-alkaloid-induced-hepatic-sinusoidal-obstruction-syndrome-and-association-with-liver-function
#3
JOURNAL ARTICLE
Tingting Guo, Xin Li, Xiaoqian Yang, Xiangquan Kong, Hui Liu, Tao Bai, Keshu Xu, Jin Ye, Yuhu Song
Hepatic sinusoidal obstruction syndrome (HSOS) can be caused by pyrrolizidine alkaloids(PAs)-containing herbals. In this study, the aim of our study was to investigate the imaging features of PAs-induced HSOS on gadoxetic acid-enhanced magnetic resonance imaging (MRI), susceptibility-weighted imaging(SWI) and T2* weighted imaging (T2* WI). We analyzed medical records and MR images of 28 PAs-induced HSOS patients enrolled from Feb, 2013, to Apr, 2017. Abnormal liver function was observed in most of the PAs-induced HSOS patients...
February 4, 2019: Scientific Reports
https://read.qxmd.com/read/23899588/comparative-proteomics-of-helicobacter-species-the-discrimination-of-gastric-and-enterohepatic-helicobacter-species
#4
COMPARATIVE STUDY
Winita Fowsantear, Evelyn Argo, Craig Pattinson, Phillip Cash
UNLABELLED: Helicobacter pylori is a major human pathogen that infects the gastric mucosa and is responsible for a range of infections including gastritis and gastric carcinoma. Although other bacteria within the Helicobacter genus can also infect the gastric mucosa, there are Helicobacter species that infect alternative sites within the gastrointestinal (GI) tract. Two-dimensional gel electrophoresis was used to compare the cellular proteomes of seven non-pylori Helicobacters (H. mustelae, H...
January 31, 2014: Journal of Proteomics
https://read.qxmd.com/read/23833676/concomitant-early-gallbladder-carcinoma-with-primary-sarcomatoid-hepatocellular-carcinoma-a-case-report
#5
Dong Xue, Kai Zuo, Xinjun Li, Hongqiang Chen, Yunfei Xu, Yu Cheng, Yuxin Chen
Concomitant primary sarcomatoid hepatocellular carcinoma (SHC) with gallbladder carcinoma is a rare type of hepatobillary disease. To the best of our knowledge, this coexistence has rarely been reported. An 80-year-old male presented with right-sided epigastric pain and a low fever. Computed tomography (CT) imaging revealed a hypodense lesion in the right lobe of the liver and a regular intraluminal polypoid mass in the gallbladder. The patient underwent a partial hepatectomy of the right lobe of the liver and a cholecystectomy...
June 2013: Oncology Letters
https://read.qxmd.com/read/7720308/utility-of-tc-99m-mebrofenin-scintigraphy-in-the-assessment-of-infantile-jaundice
#6
JOURNAL ARTICLE
S Ben-Haim, J E Seabold, S C Kao, J Johnson, D Tran, B P Brown
Technetium-99m mebrofenin hepatobillary excretory patterns were assessed in 36 infants with hyperbilirubinemia. Phenobarbital was administered to 22 patients before imaging. Final diagnoses included: intrahepatic cholestasis (14 patients), neonatal hepatitis (nine patients), biliary atresia (eight patients), alpha-1-antitrypsin deficiency (two patients), Alagille's syndrome (two patients), and cystic fibrosis (one patient). No patient with biliary atresia showed bowel activity by 24 hours. Of the 28 infants without biliary atresia, 23 (82%) had bowel activity visualized by 6-8 hours and 26 (90%) had bowel activity by 24 hours...
February 1995: Clinical Nuclear Medicine
https://read.qxmd.com/read/1732543/a-new-general-synthetic-route-to-multidentate-n-s-ligands-for-use-in-technetium-99m-radiopharmaceuticals-preparation-of-diamido-disulfur-diamino-dithiol-and-tripodal-n3s3-prototypes-comparative-biodistributions-of-99mtcvo-dads-analogues-which-contain-5-5-5
#7
JOURNAL ARTICLE
D Stepniak-Biniakiewicz, B H Chen, E Deutsch
A new, versatile synthetic route to a variety of tetradentate N2S2 and hexadentate N3S3 ligands for use in technetium-99m radiopharmaceuticals has been developed. The key reaction employs 1-(ethoxycarbonyl)-2-ethoxy-1,2-dihydroquinoline (EEDQ) for coupling an appropriate di- or triamine with S-protected thioglycolic acid. Selected DADS (diamido disulfur) and DADT (diamino dithiol) and analogues derived from ethanediamine-1,2 and butanediamine-1,4, as well as a tripodal N3S3 analogue, were synthesized in high yield...
January 24, 1992: Journal of Medicinal Chemistry
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