Results 121 to 130 of about 2,125,068 (305)

Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells

, 2017
Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common.
Behshad Pournasr, Stephen A. Duncan
core   +1 more source

Urine diagnostics in paediatric intestinal failure: A prospective cohort study of alternative sampling methods

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Regular monitoring of urinary electrolyte excretion and kidney function is essential in children with intestinal failure (IF) receiving long‐term parenteral nutrition (PN). This study evaluated alternative urine sampling methods against 24‐h urine collection (UC) and assessed the prevalence of chronic kidney disease (CKD) and renal ...
Anna Sakaeva, Andreas Busch, Johannes Holle, Hendrik Bartolomaeus, Bernd Fode, Ilias Tsiflikas, Ekkehard Sturm, Christoph Slavetinsky, Simon Scherer, Jörg Fuchs, Justus Lieber, Steven W. Warmann, Johannes Hilberath   +12 more
wiley   +1 more source

Disseminated histoplasmosis mimicking autoimmune hepatitis as a trigger of secondary hemophagocytic lymphohistiocytosis in a pediatric patient

JPGN Reports, EarlyView.
Abstract Patients presenting with hemophagocytic lymphohistiocytosis (HLH) are often critically ill, and rapid identification of both HLH and underlying triggers in secondary HLH is essential for successful treatment. We present a case of secondary HLH activated by disseminated histoplasmosis (DH) that mimicked autoimmune hepatitis (AIH) on liver ...
Thomas Ratchford, Talal Al Hendawi, Eumenia Castro, Pelin Cengiz, James Conway, Shelly Cook, Leanne Mansfield, Nicholas Pytel, Christine M. Seroogy, Katelyn Watkin, Jo Wilson, Jonathan Wong, Therese Woodring, Katryn N. Furuya   +13 more
wiley   +1 more source

The Kidney Involvement In Inborn Errors Of Metabolism

, 2017
Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders.
Evangeliou, A. (Athanasios), Gogou, M. (Maria), Tramma, D. (Despoina)   +2 more
core  

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

Incidence and geographic distribution of biliary atresia in children under 1 year of age in Colombia during the period 2018-2021

Revista de la Facultad de Medicina
Introduction: Biliary atresia (BA) is the most common cause of obstructive jaundice in the first months of life. If not treated promptly, BA rapidly progresses to biliary cirrhosis and eventually leads to early death.
Angie Vanessa Vergara-Espitia, John Jairo Zuleta-Tobón, Patricia Ruiz-Navas, Margarita María Suarez-Galvis   +3 more
doaj   +1 more source

Additional file 1: of Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)

, 2019
Table S1. Inborn errors of metabolism associated with sudden death. After van Rijt [7].
F. de Bitencourt (6317705), I. Schwartz (4766739), F. Vianna (6317711)   +2 more
core   +1 more source

Paediatric Melanonychia: Diagnosis and Management

JEADV Clinical Practice, EarlyView.
ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang, Erika Koh, Je‐Ho Mun, Dong‐Youn Lee, Matilde Iorizzo, Adam I. Rubin   +5 more
wiley   +1 more source

Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?

Critical Care Explorations
OBJECTIVE:. To evaluate the impact of continuous renal replacement therapy (CRRT) on plasma amino acid (AA) concentrations in patients with acute metabolic decompensation of organic acidemias (OAs), and to explore whether AA supplementation during CRRT ...
Chloé Grosyeux, MD, Noémie Cammiciotto, PhD, Elise Jeannesson, PharmD, PhD, Eva Feigerlova, MD, PhD, Valentine Villada, MD, Camille Wicker, MD, Michael Levy, MD, PhD, Manuel Schiff, MD, PhD, Apolline Imbard, PharmD, PhD, David Coelho, PhD, François Feillet, PhD, Arnaud Wiedemann, MD, PhD   +11 more
doaj   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source