Results 121 to 130 of about 645,542 (342)

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

Acquired Cystic Kidney Disease

, 2017
Acquired cystic kidney disease (ACKD) is a well-described condition in the adult population, which occurs primarily in patients with end-stage renal disease (ESRD). In contrast to inherited cystic kidney disease, ACKD is characterized by the presence of multiple small cysts in small kidneys.
Eugene Y. H. Chan, Bradley A. Warady
  +4 more sources

Cystic kidney diseases [PDF]

Nephrology Dialysis Transplantation, 2013
M. Jankowska, A. Walerzak, A. Debska-Slizien, B. Rutkowski, V. Frank, E. Decker, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, B. Kurt, A. Paliege, C. Willam, I. Schwarzensteiner, K. Schucht, H. Neymeyer, M. L. S. Sequeira-Lopez, S. Bachmann, R. A. Gomez, K.-U. Eckardt, A. Kurtz, J. J. Bissler, B. Zonnenberg, M. Frost, E. Radzikowska, M. Sauter, N. Nonomura, P. de Vries, D. Lam, S. Miao, H. Cauwel, J. C. Kingswood   +32 more
openaire   +1 more source

Chronic, Environmentally Relevant PM2.5 Exposure Exacerbates Metabolic Dysfunction‐Associated Steatotic Liver Disease and Early‐Stage Renal Dysfunction in a Rodent Model

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT While epidemiological studies link fine particulate matter (PM2.5) exposure to metabolic dysfunction‐associated steatotic liver disease (MASLD) and renal dysfunction, a translational gap exists, as most animal models utilize acute, high‐dose exposures that poorly reflect chronic, moderate‐level human scenarios.
Yi‐Siao Chen, Hugo You‐Hsien Lin, Chien‐Tzu Lin, Si‐Hua Huang, Ming‐Lun Yeh, Ming‐Lung Yu, Jin‐Ching Lee, Yao‐Chi Chung, Wei‐Ming Li, Ching‐Chia Li, Shiu‐Feng Huang, Chia‐Hung Yen   +11 more
wiley   +1 more source

How Does ADPKD Severity Differ Between Family Members?

Kidney International Reports
Thousands of pathogenic variants in more than 100 genes can cause kidney cysts with substantial variability in phenotype and risk of subsequent kidney failure.
Klement C. Yeung, Elise Fryml, Matthew B. Lanktree   +2 more
doaj   +1 more source

Mass spectrometry imaging of N‐linked glycans: Fundamentals and recent advances

Mass Spectrometry Reviews, EarlyView.
Abstract With implications in several medical conditions, N‐linked glycosylation is one of the most important posttranslation modifications present in all living organisms. Due to their nontemplate synthesis, glycan structures are extraordinarily complex and require multiple analytical techniques for complete structural elucidation.
Tana V. Palomino, David C. Muddiman
wiley   +1 more source

Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
core  

The major changes in medical practice in the 20th century [PDF]

, 2000
One could truly say that there were more advances in medicine in the last 60 years than there had been in the previous 500 years. Indeed the medical breakthroughs of the last 50 years have probably saved more lives than those of any epoch since medicine ...
Fenech, Frederick F.
core  

Resolution of Levodopa/Dopa‐Decarboxylase Inhibitor—Associated Microscopic Colitis with Subcutaneous Foslevodopa/Foscarbidopa: A Case Series and Review of the Literature

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Microscopic colitis (MC) typically presents with chronic, non‐bloody watery diarrhea. Diagnosis requires endoscopy with colonic mucosal biopsies. The etiology is multifactorial, with several medications implicated, although only a few cases have been attributed to oral levodopa/dopa‐decarboxylase inhibitor (LDDCI) therapy.
Romana Hintner, Franziska Eberhardt, Manuela Kofler, Andreas Eigentler, Atbin Djamshidian, Florian Krismer, Anton Hittmair, Heinz Zoller, Valentina Ellinger, Beatrice Heim, Klaus Seppi   +10 more
wiley   +1 more source

Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

, 2015
Cystic kidney diseases (CKDs) affect millions of people worldwide. The defining pathological features are fluid-filled cysts developing from nephric tubules due to defective flow sensing, cell proliferation and differentiation.
Alexander, R., Alvarado, A., Lakshmanaperumal, N., McClain, M., McKinney, S., Rink, J., Vu, H.   +6 more
core   +1 more source