Results 51 to 60 of about 31,788 (164)

Regulatory harmonization: Evolution, globalization and future directions

British Journal of Clinical Pharmacology, EarlyView.
Regulatory harmonization has become an increasingly important and accepted approach to streamline regulatory review processes and expedite access to safe, effective and high‐quality medicines globally. This review explores the evolution and current status of regulatory harmonization, convergence and reliance initiatives.
Orin Chisholm, Elaine Y. L. Blair, Christine Y. Lu   +2 more
wiley   +1 more source

Neurometabolite abnormalities and associations with epilepsy duration and cognition in patients with idiopathic generalized epilepsies

Epilepsia Open, EarlyView.
Abstract Objective This study investigated whether idiopathic generalized epilepsies (IGEs) are associated with neuroinflammation by measuring neurometabolite levels and brain temperature using whole‐brain magnetic resonance spectroscopy imaging (MRSI).
Yun Lien, Christina Bankston, Ayushe A. Sharma, Brandon S. Mitchell, Rodolphe Nenert, Anna Moyana, Jennifer Pilkington, Roy C. Martin, Charity J. Morgan, Lawrence Ver Hoef, Jerzy P. Szaflarski, Jane B. Allendorfer   +11 more
wiley   +1 more source

Von Hippel-Lindau Disease

Hereditary Cancer in Clinical Practice, 2005
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar
Hes Frederik J, Höppener Jo WM, Luijt Rob, Lips Cornelis JM   +3 more
doaj   +1 more source

Optimized Coherence Masking Improves Ultrasound Imaging of Kidney Cysts

Journal of Ultrasound in Medicine, EarlyView.
Objectives Renal cystic lesions are exceedingly common and typically benign, though accurate diagnostic techniques are required to recognize the subset of malignant lesions that require timely intervention. Ultrasound (US) is the preferred first line test for renal cyst evaluation because it is safe, widely accessible, and low cost. US imaging, however,
Scott Schoen Jr, Theodore T. Pierce, Sai Dhanush Reddy Jeggari, Abder‐Rhaman Ali, Kai E. Thomenius, Michael Wang, Brian Lause, Rimon Tadross, Kathleen Pope, David Hunt, Mary K. Peters, Mike Washburn, Anthony E. Samir   +12 more
wiley   +1 more source

Advances in Genetics of Von Hippel-Lindau Disease and Its Related Treatments

罕见病研究
Von Hippel-Lindau disease (VHL disease) is a hereditary tumor syndrome caused by VHL mutations. VHL disease-related tumors are often multiple and mostly treated by surgery. However, they often relapse after surgery.
LI Tianyi, TONG Anli
doaj   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

Gene Alterations in Italian Patients with Isolated Renal Cell Carcinomas

The International Journal of Biological Markers, 2013
Clear cell renal cell carcinoma (ccRCC) is the most common malignant neoplasm of the kidney and belongs to the few human tumors known to develop from mutations of the VHL tumor suppressor gene. VHL germline mutations are associated with hereditary ccRCCs
Lucia Anna Muscarella, Leonardo D'Agruma, Annamaria la Torre, Maddalena Gigante, Michelina Coco, Paola Parrella, Michele Battaglia, Giuseppe Carrieri, Massimo Carella, Leopoldo Zelante, Vito Michele Fazio, Loreto Gesualdo, Elena Ranieri   +12 more
doaj   +1 more source

Differing von Hippel Lindau genotype in paired primary and metastatic tumors in patients with clear cell renal cell carcinoma

Frontiers in Oncology, 2012
In sporadic clear cell renal cell carcinoma (CCRCC), the von Hippel Lindau (VHL) gene is inactivated by mutation or methylation in the majority of primary (P) tumors.
Susan A.J. Vaziri, Emmanuel J Tavares, Ali R Golshayan, Brian I Rini, Hakan eAydin, Ming eZhou, Linda eSercia, Laura eWood, Mahrukh K Ganapathi, Ronald M Bukowski, Ram eGanapathi   +10 more
doaj   +1 more source

Keeping It Native: Non‐Denaturing Approaches to Top‐Down Protein Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Top‐down proteomics and top‐down mass spectrometry approaches provide direct characterization of proteoforms; the specific molecular forms of proteins, including post‐translational modifications, truncations, alternative splicing, and sequence variants.
Michael Xiao, Edvaldo Vasconcelos Soares Maciel, Frederik Lermyte, Owen S. Skinner   +3 more
wiley   +1 more source

Epidemiology and economic burden of Von Hippel-Lindau Disease-associated central nervous system hemangioblastomas and pancreatic neuroendocrine tumors in the United States

Orphanet Journal of Rare Diseases
Background To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (HRU), and economic burden of von ...
Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch, Murali Sundaram   +6 more
doaj   +1 more source