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Mol Genet Genomic Med 2022 Jun 28:e2010. Epub 2022 Jun 28.

Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.

Background: Succinate-CoA ligase/synthetase (SCS) deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Variants in SUCLG1, the nuclear gene encoding the alpha subunit of the SCS enzyme playing a pivotal role in maintaining mtDNA integrity and stability, are associated with mitochondrial DNA depletion syndrome 9 (MTDPS9).

Methods: In this study, we reported an infant with clinical features of MTDPS9 from China. Read More

J Med Case Rep 2022 Jun 28;16(1):252. Epub 2022 Jun 28.

Department of Oncology, Keck School of Medicine of USC, Los Angeles, CA, USA.

Background: Tumor lysis syndrome is an oncologic emergency that involves multiple metabolic abnormalities and clinical symptoms such as acute renal failure, cardiac arrhythmias, seizures, and multiorgan failure, and may be fatal if not promptly recognized. Tumor lysis syndrome occurs most often in patients with hematologic malignancies, and relatively few cases have been described in patients with sarcoma.

Case Presentation: A 64-year-old male of Asian heritage presented to his primary care physician with a right lower-extremity mass and was ultimately diagnosed with widely metastatic osteosarcoma. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(6):152-158

Mechnikov North-Western State Medical University, St. Petersburg, Russia.

Clinical case of mitochondrial encephalomyopathy manifested with lactic acidosis and stroke-like episodes was presented. The patient diagnosis was performed in childhood, based on clinical manifestation, and was confirmed with molecular genetic test (mutation m.3243A>G in gene was revealed). Read More

Pediatr Res 2022 Jun 24. Epub 2022 Jun 24.

Department of Child Neurology & Metabolism, Ghent University, Ghent, Belgium.

Mitochondrion 2022 Jun 21. Epub 2022 Jun 21.

Cairo University Children Hospital , Pediatric Neurology and Metabolic Division, Cairo , Egypt.

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a heterogeneous group of rare autosomal recessive genetic disorders characterized by a decrease in the number of mtDNA copies inside the organ involved. There are three distinct forms of MDS including the hepatocerebral, the myopathic and the encephalomyopathic forms. The diversity in the clinical and genetic spectrum of these disorders makes the diagnosis challenging. Read More

Exp Ther Med 2022 Jul 25;24(1):466. Epub 2022 May 25.

Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P.R. China.

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is caused by mutations in mitochondrial DNA and is one of the most common syndromes among the mitochondrial diseases. Clinical manifestations typically occur before the age of 40 years. The present study reports a case of MELAS with a mutation in the adenine to guanine conversion at mitochondrial genome 3243 in a 48-year-old woman who was suspected of suffering from recurrent strokes. Read More

Cureus 2022 May 20;14(5):e25163. Epub 2022 May 20.

Internal Medicine, Coimbra Hospital and University Center, Coimbra, PRT.

Background Hyperlactatemia is defined by a lactate concentration of >2 mmol/L, and a lactate concentration of above >4 mmol/L is commonly used to define severe hyperlactatemia. It is a common disorder in critically ill patients and is associated with adverse prognosis. Diabetes mellitus(DM) can also be associated with increased lactate levels at baseline. Read More

Clin Case Rep 2022 Jun 13;10(6):e05929. Epub 2022 Jun 13.

Medical Intensive Care Unit Soroka University Medical Center; Faculty of Health Sciences Ben Gurion University of the Negev Beer-Sheva Israel.

Colonic lymphoma is a rare disease. The presented case is unique, being manifested with abrupt onset, including circulatory shock and lactic acidosis as the initial presentation. Read More

J Immunol Res 2022 12;2022:3119375. Epub 2022 Jun 12.

Department of Laboratory Medicine, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai 200065, China.

Lactic acid is a "metabolic waste" product of glycolysis that is produced in the body. However, the role of lactic acid in the development of human malignancies has gained increasing interest lately as a multifunctional small molecule chemical. There is evidence that tumor cells may create a large amount of lactic acid through glycolysis even when they have abundant oxygen. Read More

Orphanet J Rare Dis 2022 06 21;17(1):243. Epub 2022 Jun 21.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CIBERER, IdiPAZ, C/Francisco Tomás y Valiente, 7, 28049, Madrid, Spain.

Background: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition have been identified, and clinical and biochemical details remain incomplete.

Results: The present work reports a patient suffering from severe, recurrent episodes of metabolic acidosis and psychomotor delay, showing a pathogenic loss-of-function variation c. Read More

Front Genet 2022 3;13:887696. Epub 2022 Jun 3.

Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum-University of Bologna, Bologna, Italy.

Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber's hereditary optic neuropathy (LHON). Read More

Stem Cell Res Ther 2022 Jun 17;13(1):260. Epub 2022 Jun 17.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, 2311 Pierce Avenue, Nashville, TN, 37232, USA.

Background: Mitochondrial dysfunction and mitochondrial DNA (mtDNA) damage in the retinal pigment epithelium (RPE) have been implicated in the pathogenesis of age-related macular degeneration (AMD). However, a deeper understanding is required to determine the contribution of mitochondrial dysfunction and impaired mitochondrial autophagy (mitophagy) to RPE damage and AMD pathobiology. In this study, we model the impact of a prototypical systemic mitochondrial defect, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), in RPE health and homeostasis as an in vitro model for impaired mitochondrial bioenergetics. Read More

Mol Syndromol 2022 May 1;13(3):226-234. Epub 2022 Feb 1.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Pontocerebellar hypoplasia (PCH) is a heterogeneous neurodevelopmental disorder that is characterized by decreased brainstem and cerebellum volume. Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease associated with autosomal recessive inheritance that results from mutations in the gene. In this case report, we describe a new clinical presentation with a novel pathogenic variant. Read More

Rev Esp Enferm Dig 2022 Jun 15. Epub 2022 Jun 15.

Gastroenterología y Hepatología Pediátrica, Hospital Universitari i Politècnic La Fe, España.

A 15-year-old boy was admitted to the hospital due to ataxia, drowsiness and bradypsychia. He was known to have a short bowel syndrome Initial venous blood gases revealed a metabolic acidosis with a high anion gap of 24 mmol/L and normal L-lactate. He improved with fasting and fluids and was discharged with oral metronidazole. Read More

Anim Nutr 2022 Sep 11;10:148-155. Epub 2022 Mar 11.

Laboratory of Metabolic Manipulation of Herbivorous Animal Nutrition, College of Animal Science and Technology, Yangzhou University, Yangzhou 225009, China.

Dairy cattle are frequently fed high-concentrate (HC) diets in modern intensive feeding systems, especially in the transition period. During this period, cows face many alterations that include hormonal changes and shifting to a lactating state. Switching to a HC diet that may disrupt the ruminal microbiota balance can lead to subacute ruminal acidosis (SARA). Read More

JCO Precis Oncol 2022 Jun;6:e2100428

Harvard Medical School, Boston, MA.

Mol Neurobiol 2022 Jun 14. Epub 2022 Jun 14.

Centre for Genomics and Personalised Health, Genomics Research Centre, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Ave., Kelvin Grove, Queensland, 4059, Australia.

Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is known to have a phenotype similar to Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy (CADASIL), and can be caused by variants in the mitochondrial genome and in several nuclear-encoded mitochondrial protein (NEMP) genes. The aim of this study was to screen for variants in the mitochondrial genome and NEMP genes in a NOTCH3-negative CADASIL cohort, to identify a potential link between mitochondrial dysfunction and CSVD pathology. Read More

Environ Res 2022 Jun 10;213:113613. Epub 2022 Jun 10.

Center of Excellence for Green Energy and Environmental Nanomaterials ([email protected]), Nguyen Tat Thanh University, Ho Chi Minh City, Viet Nam. Electronic address:

Metformin is a wonder drug used as an anti-hypoglycemic medication; it is also used as a cancer suppression medicament. Metformin is a first line of drug choice used by doctors for patients with type 2 diabetes. It is used worldwide where the drug's application varies from an anti-hypoglycemic medication to cancer oppression and as a weight loss treatment drug. Read More

Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 2022 Apr;34(4):362-366

Department of Intensive Care Medicine, Subei People's Hospital, Yangzhou 225001, Jiangsu, China.

Objective: To study the effect of different crystalloid resuscitation on renal function in septic shock rabbits, and to provide a theoretical basis for the choice of crystalloid for clinical fluid resuscitation.

Methods: Thirty-six healthy male New Zealand white rabbits were divided into six groups by random number table: control group, model group, and four crystalloid groups including normal saline (NS) group, lactate Ringer solution (LR) group, acetate Ringer solution (AR) group, and sodium potassium magnesium calcium glucose injection (SPMCG) group, with 6 rabbits in each group. Rabbits were infused with Escherichia coli lipopolysaccharide (LPS) 500 μg/kg via the marginal ear vein (infused at a constant speed within 20 minutes), and then continued to infuse in an increase of 300 μg/kg every 10 minutes, the maximum dose was 2 mg/kg, until the mean arterial pressure (MAP) dropped to 60% of the basal value, the septic shock model was considered to be successfully reproduced. Read More

Medicine (Baltimore) 2022 Jun 10;101(23):e28253. Epub 2022 Jun 10.

Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar.

Introduction: There are variable complications of hyperthyroidism, including atrial fibrillation, heart failure, osteoporosis, and thyroid storm. One infrequent complication of hyperthyroidism is non-diabetic ketoacidosis (NDKA). To the best of our knowledge, our case is the third report of NDKA related to thyrotoxicosis. Read More

Cureus 2022 May 5;14(5):e24746. Epub 2022 May 5.

Clinical Pathology, The University of Melbourne, Melbourne, AUS.

Mitochondrial disorders are caused due to variants in genes located on the mitochondrial DNA or the nuclear DNA. Here, we report a case with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh overlap syndrome due to variant m.13513G>A in ND5. Read More

Recent Adv Inflamm Allergy Drug Discov 2022 Jun 6. Epub 2022 Jun 6.

Department of Medicine, Campus Bio-Medico di Roma University, via Álvaro del Portillo 21, 00128 Rome, Italy.

Introduction: Lactic acidosis is a rare but life-threatening complication associated with prolonged linezolid therapy. No specific treatment is suggested, except for antibiotic therapy interruption.

Case Report: A 70-years-old woman faced severe linezolid intoxication after antibiotics therapy initiation for infection of a surgical sternal wound. Read More

J Intensive Care Med 2022 Jun 6:8850666221106413. Epub 2022 Jun 6.

David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Previous studies evaluating patients in the Intensive Care Unit with lactic acidosis determined that the anion gap is an insensitive screening tool for elevated blood lactate. No prior study has examined the relationship between anion gap and serum lactate within the first hours of the development of lactic acidosis. Data were obtained prospectively from a convenience sample of adult trauma patients at a single level 1 trauma center. Read More

J Neonatal Perinatal Med 2022 May 30. Epub 2022 May 30.

University of Manitoba, Section of Neonatology, Pediatrics Department, Winnipeg, MB, Canada.

Objective: To validate the vasoactive inotropic score as a predictor of the severity of compromised systemic circulation and mortality in preterm infants.

Methods: A retrospective study was conducted on preterm infants with Compromised systemic circulation [hypotension±lactic acidosis±oliguria] who received a cardiovascular support, we calculated the vasoactive inotropic score (VIS) and cumulative exposure to cardiovascular medications over time (VISct). Receiver operator curve was constructed to predict the primary outcome which was death & refractory hypotension. Read More

Mol Genet Metab 2022 Jul 28;136(3):219-225. Epub 2022 May 28.

Department of Neurology, Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine (RCMM), Radboudumc, Nijmegen, the Netherlands. Electronic address:

Background: In patients with primary mitochondrial disease (MD), screening with electrocardiogram (ECG) and transthoracic echocardiography (TTE) is warranted according to current guidelines as structural cardiac abnormalities are frequent. This study aims to evaluate the cardiac phenotype of a large Dutch cohort of patients with MD and investigates whether ECG alone is sufficient for predicting structural cardiac abnormalities on TTE.

Methods: In this retrospective cohort study, genetically confirmed MD patients >18 years old with an available ECG and TTE were included. Read More

Cancer Immunol Immunother 2022 Jun 3. Epub 2022 Jun 3.

Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.

Lactic acidosis has been reported in solid tumor microenvironment (TME) including glioblastoma (GBM). In TME, several signaling molecules, growth factors and metabolites have been identified to induce resistance to chemotherapy and to sustain immune escape. In the early phases of the disease, microglia infiltrates TME, contributing to tumorigenesis rather than counteracting its growth. Read More

JA Clin Rep 2022 Jun 1;8(1):38. Epub 2022 Jun 1.

Faculty of Medicine, Department of Anesthesiology, Kindai University, 377-2 Ono-Higashi, Osaka-Sayama, Japan.

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is characterized by cardiac depression, respiratory failure, myopathy, and anesthesia for affected patients is challenging. Although several anesthetics have been safely employed, there are no reports on remimazolam used in those patients.

Case Presentation: A 47-year-old male with MELAS syndrome was diagnosed with mitral regurgitation and scheduled for transcatheter mitral valve repair under general anesthesia. Read More

Rinsho Shinkeigaku 2022 Jun 28;62(6):464-468. Epub 2022 May 28.

Department of Neurology, School of Medicine, Sapporo Medical University.

A 42-year-old woman presented at our hospital with acute paraphasia and word finding difficulty. She was not paralyzed or ataxic. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) was diagnosed based on brain MRI finding of edematous lesions in bilateral temporal lobe cortexes that did not match the vascular territory, elevated lactate and pyruvate levels in blood and cerebrospinal fluid, and the presence of a mtDNA 3243A>G mutation. Read More

J Anal Toxicol 2022 Jun 1. Epub 2022 Jun 1.

Department of pharmacology and toxicology, Limoges University Hospital, France.

Metformin is a treatment used for type 2 diabetes. Lactic acidosis (LA) is a frequent complication that can either be induced by or associated with elevated metformin plasma concentrations. When coupled with a mass spectrometry system (MS), the Probe Electrospray Ionization (PESI) method allows direct and rapid analysis of different types of matrices without pre-treatment. Read More

Clin Toxicol (Phila) 2022 May 30:1-8. Epub 2022 May 30.

National Poisons Information Service, Cardiff Unit, University Hospital Llandough, Penarth, UK.

Introduction: Cyanide is a prevalent, lethal chemical. Possible sources of exposure include products of combustion, plant material, industry, chemical warfare and terrorism.

Methods: Retrospective review of UK Poisons Information Database of telephone enquiries to the National Poisons Information Service between 1 January 2008 and 31 December 2019 where cyanide poisoning was considered a possibility. Read More