RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Advanced Science, EarlyView.Osteosarcoma is the most common primary bone tumor with limited treatment options and a terrible prognosis. This review provides a comprehensive summary of the recent development of osteoimmunomodulatory implants for post‐operative osteosarcoma treatment, of which the potential utility in evoking durable anti‐osteosarcoma immunity and accelerating bone
Yilong Dong +6 more
wiley +1 more source
Case Reports in Oncology, 2020 Lactic acidosis is pathophysiologically classified into type A and type B. The latter is a rare but potentially life-threatening emergency, mainly described in hematological malignancies.
Takafumi Hamada +5 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Hemoglobin A1c Levels Modify Associations between Dietary Acid Load and Breast Cancer Recurrence. [PDF]
, 2020 BackgroundMetabolic acidosis promotes cancer metastasis. No prospective studies have examined the association between dietary acid load and breast cancer recurrence among breast cancer survivors, who are susceptible to metabolic acidosis.
Hsu, Fang-Chi +4 more
core +2 more sources
Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy
Advanced Science, EarlyView.Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong +5 more
wiley +1 more source
The Association of Hypophosphatemia With Resistant Lactic Acidosis in Critical Care Illness
Journal of Investigative Medicine High Impact Case Reports, 2020 Critically ill patients are known to have a variety of electrolyte abnormalities. Lactic acidosis can frequently be seen secondary to shock states and is usually treated with aggressive volume resuscitation. Interestingly, hypophosphatemia is a potential
Amr Essa MD +5 more
doaj +1 more source
Effect of sodium bicarbonate administration on mortality in patients with lactic acidosis: a retrospective analysis. [PDF]
PLoS ONE, 2013 BACKGROUND: Lactic acidosis is a common cause of high anion gap metabolic acidosis. Sodium bicarbonate may be considered for an arterial pH
Hyun Jeong Kim, Young Ki Son, Won Suk An
doaj +1 more source
Point-of-care measurement of blood lactate in children admitted with febrile illness to an African District Hospital. [PDF]
, 2011 BACKGROUND: Lactic acidosis is a consistent predictor of mortality owing to severe infectious disease, but its detection in low-income settings is limited to the clinical sign of "deep breathing" because of the lack of accessible technology for its ...
Acierno +22 more
core +1 more source
Near infrared spectrometric investigation of lactate in a varying pH buffer [PDF]
, 2020 Lactic acidosis is commonly observed in various disease states in critical care and can be adopted as a hemodynamic biomarker, as well as a target for therapy.
Baishya, N. +5 more
core +1 more source