Results 41 to 50 of about 10,151 (205)

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Frontiers in Medicine, 2022
BackgroundBartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the KCNJ1 gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle’s loop.
Mi Tian, Hui Peng, Xin Bi, Yan-Qiu Wang, Yong-Zhe Zhang, Yan Wu, Bei-Ru Zhang   +6 more
doaj   +1 more source

Nephrocalcinosis in juvenile farmed Atlantic salmon

, 2023
English summary Good health and welfare of farmed fish is crucial for further growth and development of the fish farming industry in Norway and abroad. Systematic work is being done at all levels of the industry with measures that can improve the health
Klykken, Christine
core  

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes [PDF]

One-month old, breastfeeding infant, born at term, with normal anthropometric measurements at birth was referred to Pediatric Nephrology due to a nephrocalcinosis. The patient presented with dysmorphic features and heart disease.
Juan A. Bafalliu-Vidal, Salvador Ibáñez-Micó, Ascensión Vera-Carbonell, Ana Lorente-Nicolás, Francisca Bermejo-Costa, José María Donate-Legaz, Juan D. González-Rodríguez, Esther Q. Inglés-Torres, José E. Cabrera-Sevilla, Pedro Cortés-Mora   +9 more
core   +1 more source

Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis [PDF]

, 2022
Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at eight years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental ...
Patterson, Jenny, Jacob, Zoe, Reynolds, Ben C.   +2 more
core   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Outcomes and adverse effects of teduglutide treatment with periodic withdrawal in pediatric short bowel patients

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives We evaluated the efficacy and safety of teduglutide in a real‐world cohort in which national reimbursement policies required treatment interruptions. The primary outcomes were reduction in parenteral support (PS) and treatment‐related adverse effects, and the secondary outcome was the impact of the mandated withdrawal periods ...
Riikka Gunnar, Annika Mutanen, Mikko P. Pakarinen, Laura Merras‐Salmio   +3 more
wiley   +1 more source

Acute freshwater CO2 exposure does not impair seawater transfer in three different sizes of Atlantic salmon (Salmo salar) subjected to different photoperiod manipulations

Journal of Fish Biology, EarlyView.
Abstract There is a growing interest in Atlantic salmon (Salmo salar) aquaculture to extend the time fish are reared in freshwater (FW) recirculating aquaculture systems (RAS), producing larger FW salmon that can then be induced to undergo smoltification before transfer into marine net pens for grow‐out and harvest.
Le Thi Hong Gam, Daniel W. Montgomery, Daniel S. Laronde, Rachael Mackinnon, Jeffrey G. Richards, Colin J. Brauner   +5 more
wiley   +1 more source

Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

Kidney & Blood Pressure Research, 2021
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH.
Viola D’Ambrosio, Alessia Azzarà, Eugenio Sangiorgi, Fiorella Gurrieri, Bernhard Hess, Giovanni Gambaro, Pietro Manuel Ferraro   +6 more
doaj   +1 more source

Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation

Brazilian Journal of Nephrology, 2014
Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis
Jorge Reis Almeida, Gabriel de Almeida Machado, Márcia Maria Guimarães dos Santos, Patricia de Fátima Lopes, Jorge Paulo Strogoff de Matos, Aderbal Cypriano Neves, Jocemir Ronaldo Lugon   +6 more
doaj   +1 more source

First Strike: Description of the Events at the First Salmon Farm Affected by the 2025 Algal Bloom in Northern Norway

Journal of Fish Diseases, EarlyView.
ABSTRACT Harmful algal blooms (HABs) are a threat to fish welfare, occurring suddenly and unexpectedly causing significant consequences for fish and salmon farmers worldwide. Norwegian farmers have been facing this challenge at irregular intervals since the very beginning of the industry. This report describes the events on the first fish farm affected
Julie Seem, Mirjam Nikoline Petterson, Tore Seternes, Pål Furset Lader, Julie Christine Svendsen, Lars‐Johan Naustvoll, Lars Helge Stien   +6 more
wiley   +1 more source