Results 61 to 70 of about 4,758 (205)
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
Case Reports in Genetics, 2014 Aim. To raise the awareness of adult-onset carnitite palmitoyltransferase II deficiency (CPT II) by describing clinical, biochemical, and genetic features of the disease occurring in early adulthood. Method.
M. Vavlukis +6 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Long‐chain fatty acid oxidation disorders (lcFAODs) are genetic disorders of energy metabolism that are associated with a risk of metabolic decompensation, especially during catabolic episodes. With improvement in diagnostics and treatment, more women with lcFAODs now reach child‐bearing age.
Sarah C. Grünert +27 more
wiley +1 more source
Use of Extracorporeal Therapies to Treat Severe Caffeine Poisoning
Hemodialysis International, Volume 30, Issue 1, Page 73-79, January 2026.ABSTRACT Introduction Reflecting on recent reports suggesting the efficacy of extracorporeal blood purification, including hemodialysis, for severe caffeine poisoning, we conducted a retrospective 5‐year follow‐up study on acute caffeine poisoning in Japan particularly focusing on extracorporeal blood purification.
Saeko Kohara +5 more
wiley +1 more source
Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
Molecular Genetics and Metabolism Reports, 2018 Pathogenic variants in the PGAM2 gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal muscle.
M. Sidhu +3 more
doaj +1 more source
Decoding Severity in Crotalic Snakebite Cases: Findings From a Decade of Cohort Analysis in Brazil
BioMed Research International, Volume 2026, Issue 1, 2026.Background Crotalic snakebite accidents are a common cause of admission into toxicology units in Brazil, and are associated with substantial morbidity and mortality. Our aim was to analyze clinical and laboratory findings, outcomes, and variables associated with the severity of patients treated for crotalic accidents at a reference center in Brazil ...
Luciana Reis da Silveira +8 more
wiley +1 more source
Case Reports in Medicine, Volume 2026, Issue 1, 2026.Rhabdomyolysis is a condition in which damaged muscle tissue breaks down and typically presents with muscle pain, weakness, and dark‐colored urine, along with markedly elevated serum creatine kinase (CK) levels. Common lab findings include hyperkalemia, hyperphosphatemia, hypocalcemia, elevated lactate dehydrogenase (LDH), acute kidney injury (AKI ...
Sarah Baig, Michelle Troendle, Kun Li
wiley +1 more source
Renal Replacement Therapy in Acute Kidney Failure due to Rhabdomyolysis
Case Reports in Critical Care, 2012 Rhabdomyolysis is a syndrome caused by skeletal muscle cells destruction which can occur for many reasons, including prolonged immobilization. The main complication of the syndrome is the development of acute renal failure.
G. Maggi +4 more
doaj +1 more source
Case Reports in Infectious Diseases, Volume 2026, Issue 1, 2026.Background Dengue is endemic in the Maldives and remains a major public health concern in this small island nation of approximately half a million people. Genetic red blood cell disorders, particularly thalassemia, are common; however, the prevalence of other inherited disorders, such as glucose‐6‐phosphate dehydrogenase (G6PD) deficiency, remains ...
Rajib Dey +9 more
wiley +1 more source
Case Reports in Hepatology, Volume 2026, Issue 1, 2026.Background Herb‐induced liver injury (HILI) represents an increasing diagnostic challenge owing to the widespread use of herbal and dietary supplements (HDS), which are frequently consumed without reliable information regarding their composition or safety.
Ferdinando Lucas Góis +6 more
wiley +1 more source