Lactic acidosis in the absence of hypoxia or tissue hypoperfusion (type B) is very rare and is associated with the use of some drugs or malignancy. We report a 79-year-old woman, with a marginal non-Hodgkin's lymphoma of the spleen that was subjected to a splenectomy one year ago. She presented with unexplained tachypnea associated with pancytopenia and elevation of IgM to 10 times over the higher normal limit. Laboratory tests showed the presence of metabolic acidosis and high lactic acid levels in the absence of infection, tissue hypoxia or hypoperfusion. She was treated with sodium bicarbonate and steroids without obtaining a reduction in lactate levels. Twelve days after admission, a single dose of Rituximab quickly normalized lactate concentrations and platelet count. After the fourth dose of Rituximab, pancytopenia disappeared and IgM fell to 25% of its baseline concentration.
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http://dx.doi.org/10.4067/S0034-98872012000200014 | DOI Listing |
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFClin Neurol Neurosurg
January 2025
Department of Neurology, University of Health Sciences, Sancaktepe Şehit Prof. Dr. İlhan Varank Training and Research Hospital, Istanbul, Turkey. Electronic address:
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common mitochondrial disorders, typically presenting with symptoms before the age of 40. Epileptic seizures are a common manifestation, with both focal and generalized seizures being observed. EEG findings can be variable, with the most common patterns being slow background activity followed by epileptiform discharges.
View Article and Find Full Text PDFObjective: To analyze the clinical effectiveness of Entecavir (ETV) and Tenofovir Disoproxil Fumarate (TDF) Tablets for the treatment of chronic hepatitis B (CHB).
Methods: Clinical data from 100 CHB patients admitted to our hospital from April 2022 to April 2024 were retrospectively reviewed. Of these, 45 cases in the control group received ETV, and 55 cases in the research group received TDF tablets.
Cureus
December 2024
Division of Pulmonary Critical Care Medicine, Charleston Area Medical Center, Charleston, USA.
Abdominal pain is a common presenting symptom among patients visiting the hospital. A wide range of differential diagnoses are associated with this presentation, some of which are more uncommon than others, and require a higher degree of clinical suspicion and radiological excellence to diagnose. Although clinicians rely on physical assessment, examining a patient who is agitated and non-cooperative sometimes limits the physical exam findings, making these diagnoses even more challenging.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.
Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.
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