Results 71 to 80 of about 36,482 (221)

ACUTE KIDNEY INJURY DUE TO METFORMIN-ASSOCIATED LACTIC ACIDOSIS [PDF]

open access: yesJournal of IMAB
Introduction: Acute kidney injury is a clinical syndrome of rapid decline of renal function due to various causes and often occurs by more than one pathophysiological mechanism.
Svilena Aleksandrova   +3 more
doaj   +1 more source

Carbon Dots for Cancer Theranostics: Synthesis Strategies, Luminescence Properties, and Advances in Bioimaging‐Guided Diagnosis and Therapy

open access: yesChemistry – A European Journal, EarlyView.
Lighting up the path to precision oncology: This review comprehensively summarizes the rational design of carbon dots (CDs), elucidating how core size, surface chemistry, and heteroatom doping dictate their luminescence mechanisms. Special emphasis is placed on engineering NIR‐II emissive CDs for deep‐tissue imaging.
Zekun Yan   +3 more
wiley   +1 more source

Reversible Severe Acute Lactic Acidosis Caused by Thiamine Deficiency in Intensive Care Unit

open access: yesCase Reports in Critical Care
Lactic acidosis is a common cause of metabolic acidosis in hospitalized patients. It is typically caused by hypoperfusion and anaerobic metabolism and is often associated with sepsis.
Jisu Hong   +4 more
doaj   +1 more source

Lactic acidosis associated with metformin in patients with moderate to severe chronic kidney disease: study protocol for a multicenter population-based case-control study using health databases

open access: yesBMC Nephrology, 2019
Background The use of metformin in patients with type 2 diabetes mellitus has been associated with lactic acidosis. However, the information available in patients with moderate-severe chronic kidney disease is scarce.
Consuelo Pedrós   +5 more
doaj   +1 more source

Recurrent Miscarriages and Postpartum Heart Failure Can Be Phenotypic Manifestations of the m.3243A>G Variant [PDF]

open access: yesClin Case Rep
ABSTRACT Female carriers of the MT‐TL1 variant m.3243A>G may manifest not only phenotypically with diabetes, renal insufficiency, hearing loss, and cardiomyopathy but also with recurrent miscarriages.
Mehri S, Finsterer J.
europepmc   +2 more sources

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review [PDF]

open access: yesJIMD Rep
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Lundquist A   +4 more
europepmc   +2 more sources

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

open access: yesEpilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer   +12 more
wiley   +1 more source

Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study

open access: yesMalaria Journal, 2018
Background Evolutionary pressure by Plasmodium falciparum malaria is known to have favoured a large number of human gene adaptations, but there is surprisingly little investigation of the effect of malaria on human mitochondrial sequence variation ...
Casey Fowler   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

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