Results 61 to 70 of about 4,757 (204)
Novel heterozygous mutations in the PGAM2 gene with negative exercise testing
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
Background Primary aldosteronism (PA) is a common cause of secondary hypertension and hypokalemia, but it rarely presents with neuromuscular symptoms. Although only a few cases of hypokalemia‐induced rhabdomyolysis have been reported, dropped head syndrome (DHS) due to cervical axial muscle weakness has not previously been described in the context of ...
Ya-Chen Kao +4 more
wiley +1 more source
Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation.
Hubert, Laurence +12 more
core +1 more source
Renal Replacement Therapy in Acute Kidney Failure due to Rhabdomyolysis
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
ABSTRACT Proteinuria analysis is necessary to detect the early stages of kidney disease before the estimated glomerular filtration rate deteriorates and to monitor the progression of treated kidney disease. Electrophoresis is often the first orientation test, although this test is time‐consuming and its interpretation may be subjective.
Joris Guyon +8 more
wiley +1 more source
Myoglobinuria is one of the important causes of acute renal failure, and its incidence may be increasing because of recent increase of motor vehicle accidents.
ハヂンス, ポールC. +1 more
core
The Role of C/EBP‐Homologous Protein in Idiopathic Inflammatory Myopathies
ABSTRACT The Idiopathic Inflammatory Myopathies (IIMs) are a group of autoimmune disorders characterised by persistent muscle inflammation and diverse clinical manifestations. Common symptoms include muscle weakness, myalgia, and elevated serum creatine kinase levels. Recent findings highlight the relevance of muscle fibre necrosis in IIMs.
Monica Sciacco +9 more
wiley +1 more source
ABSTRACT Isotretinoin can cause toxic myopathy even at low doses with normal CK levels; proximal muscle weakness may be the only sign. EMG is essential for diagnosis, emphasizing the need for clinical vigilance and personalized assessment in patients with unexplained muscle symptoms on isotretinoin.
Mehran Mahyar +4 more
wiley +1 more source
We report a 15-year-old boy admitted to the pediatric emergency unit with acute encephalopathy associated with an elevated serum creatine kinase (CK) level without myoglobinuria and renal failure, which was due to 3,4- Methylenedioxymethamphetamine (MDMA)
core +1 more source
A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and ...
Angelini C. +4 more
core +1 more source

