Results 51 to 60 of about 4,757 (204)
Spinning‐Induced Exertional Rhabdomyolysis Without Acute Kidney Injury
ABSTRACT Rhabdomyolysis is a condition with a myriad of causes, including both traumatic and non‐traumatic. Traumatic conditions are observed in crush injuries, compartment syndrome, and fractures, while non‐traumatic rhabdomyolysis is commonly seen due to exertional heat stroke, extreme physical exercise, and dehydration. This case report explores two
Yolanda V. Gutierrez +4 more
wiley +1 more source
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise-induced cramps, recurrent myoglobinuria, and tubular aggregates in the muscle biopsy.
Oh, S. J. +6 more
core +1 more source
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
Lipin proteins and metabolic homeostasis
The lipin protein family, consisting of three members, was first identified early this century. In the last few years, the lipin proteins have been shown to have important roles in glycerolipid biosynthesis and gene regulation, and mutations in the ...
Karen Reue, Jennifer R. Dwyer
doaj +1 more source
Use of Extracorporeal Therapies to Treat Severe Caffeine Poisoning
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
Rhabdomyolysis and Cardiomyopathy in a 20-Year-Old Patient with CPT II Deficiency
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
Decoding Severity in Crotalic Snakebite Cases: Findings From a Decade of Cohort Analysis in Brazil
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
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
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation
The most common clinical phenotype caused by a mtDNA mutation in complex I of the mitochondrial respiratory chain is Leber hereditary optic neuropathy.
Christoffer R. Vissing +13 more
core +1 more source

