Results 71 to 80 of about 1,011,106 (292)

Distal renal tubular acidosis developments in its diagnosis and pathophysiology [PDF]

, 2010
This thesis describes two groups of experiments, both relating to the condition of distal renal tubular acidosis (dRTA). In the first, an alternative diagnostic test of dRTA to the ‘gold standard’ short ammonium chloride (NH4Cl) test was assessed ...
Walsh, S.B.
core  

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Acid–base status and its clinical implications in critically ill patients with cirrhosis, acute-on-chronic liver failure and without liver disease

Annals of Intensive Care, 2018
Background Acid–base disturbances are frequently observed in critically ill patients at the intensive care unit. To our knowledge, the acid–base profile of patients with acute-on-chronic liver failure (ACLF) has not been evaluated and compared to ...
Andreas Drolz, Thomas Horvatits, Kevin Roedl, Karoline Rutter, Richard Brunner, Christian Zauner, Peter Schellongowski, Gottfried Heinz, Georg-Christian Funk, Michael Trauner, Bruno Schneeweiss, Valentin Fuhrmann   +11 more
doaj   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Effects of intermittent exposure to hypobaria and cold on the microarchitecture and morphofunctional profile of rat gastrocnemius muscle

The Anatomical Record, EarlyView.
Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes, Teresa Pagès, Ginés Viscor, Joan Ramon Torrella   +3 more
wiley   +1 more source

Acidosis-sensing glutamine pump SNAT2 determines amino acid levels and mammalian target of rapamycin signalling to protein synthesis in L6 muscle cells

, 2007
Wasting of lean tissue as a consequence of metabolic acidosis is a serious problem in patients with chronic renal failure. A possible contributor is inhibition by low pH of the System A (SNAT2) transporter, which carries the amino acid L-glutamine (L-Gln)
HA Varoqui (18249130), TAPA Herbert (18249088), ZA Nasim (18249106), HA Butler (18249124), JA Brown (9852752), SA Kauser (18249127), JADA Erickson (18249133), KA Evans (16105145), AA Bevington (18249118)   +8 more
core   +5 more sources

Distal renal tubular acidosis a rarely diagnosed cause of failure to thrive: A report of three cases

Ibom Medical Journal, 2007
SUMMARY Three cases of distal renal tubular acidosis aged between 6 - 12weeks are described. The presenting features included lethargy, refusal to feed, marked periodic respiration, vomiting and recurrent episode of unexplained metabolic acidosis.
Adeleke SI, Asani MO
doaj   +1 more source

Gut Health in Ostriches (Struthio camelus): Insights Into Intestinal Structure, Functions, Microbiome, and Improvement Strategies

Animal Research and One Health, EarlyView.
Our paper systematically reviews the intestinal structure, function, and microbiota of ostriches, along with strategies for improving their gut health. We analyze how these factors collectively influence intestinal homeostasis and ostrich welfare, emphasizing probiotics as a promising intervention to enhance gut health, boost population well‐being, and
Zi‐Qun Zhang, Fang‐Fang Guo, Wen‐Juan Du, Meng Li, Aftab Shaukat, Zhu‐Qing Jia, Shu‐Cheng Huang   +6 more
wiley   +1 more source

The frequency and severity of metabolic acidosis related to topiramate

, 2016
Objective: We planned a cross-sectional analysis to determine the frequency and severity of metabolic acidosis in patients taking topiramate while awaiting craniotomy.
Ture, Hatice, Keskin, Ozgul, Bingol, Canan Aykut, Ture, Ugur, Cakir, Ulkem   +4 more
core   +1 more source