Results 71 to 80 of about 65,237 (244)

Lactic acidosis, hyperlactatemia and sepsis

open access: yesItalian Journal of Medicine, 2016
Among hospitalized patients, lactic acidosis represents the most common cause of metabolic acidosis. Lactate is not just a metabolic product of anaerobic glycolysis but is triggered by a variety of metabolites even before the onset of anaerobic ...
Andrea Montagnani, Roberto Nardi
doaj   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Metformin-associated lactic acidosis treated successfully by peritoneal dialysis in a resource limited setting: case report

open access: yesThe Pan African Medical Journal, 2019
Metformin is a commonly used treatment modality in type 2 diabetes mellitus with lactic acidosis as a rare but life-threatening side effect. In this case report we highlight the importance of recognizing this uncommon side effect and the treatment ...
Khaled Elmezughi, Chukwuma Ekpebegh
doaj   +1 more source

Pyruvate is a prospective alkalizer to correct hypoxic lactic acidosis

open access: yesMilitary Medical Research, 2018
Type A lactic acidosis resulted from hypoxic mitochondrial dysfunction is an independent predictor of mortality for critically ill patients. However, current therapeutic agents are still in shortage and can even be harmful.
Ying Wang   +5 more
doaj   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

Adjunctive interferon-γ immunotherapy for the treatment of HIV-associated cryptococcal meningitis: a randomized controlled trial.

open access: yes, 2012
BACKGROUND: Interferon-gamma (IFNγ) is of key importance in the immune response to Cryptococcus neoformans. Mortality related to cryptococcal meningitis remains high, and novel treatment strategies are needed.
Bekker, Linda-Gail   +9 more
core   +1 more source

Best Practices in Second Stage Labor Care: Maternal Bearing Down and Positioning [PDF]

open access: yes, 2007
Despite evidence of adverse fetal and maternal outcomes from the use of sustained Valsalva bearing down efforts, current second-stage care practices are still characterized by uniform directions to “push” forcefully upon complete dilatation of the cervix
American College of Obstetricians and Gynecologists   +8 more
core   +2 more sources

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

open access: yesAmerican 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   +17 more
wiley   +1 more source

Alkali Therapy in Lactic Acidosis

open access: yesMarshall Journal of Medicine, 2015
This report attempts to frame the debate about clinical administration of sodium bicarbonate in the setting of lactic acidosis in terms of simple questions.
Zeid J. Khitan   +4 more
doaj   +1 more source

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