vitamin-k-semiquinone-radical and Muscular-Diseases

A 2-year-old girl with reducing body myopathy was reported. She had no family history of neuromuscular disease. She developed normally with no delay in milestones during infancy. She had no muscle weakness or hypotonia up to 2 years of age when she received mumps vaccination. Three days after the injection, she was first noticed to have limb muscle weakness. The muscle weakness progressed rapidly with increasing difficulty in gait and raising the upper arms, particularly the left. Four months later, she had difficulty in keeping her head up and could no longer climb the stairs. On physical examination, she had proximal dominant generalized muscle weakness, with a preferential neck muscle involvement. She walked waddlingly and stood up with Gowers' maneuver. Facial and ocular muscles were intact. No dysarthria, dysphagia or respiratory difficulty was noted. EMG showed myopathic pattern. Serum creatine kinase level was moderately elevated to 739 IU/l. In the biopsied left biceps muscle, there was marked variation in fiber size, but no apparent necrotic or regenerating fibers. The most striking feature was the presence of numerous eosinophilic inclusions which reduced nitroblue tetrazolium (NBT) and were, therefore, stained dark with menadione-linked alpha-glycerophosphate dehydrogenase even without the substrate of menadione, showing the histochemical characteristics of "reducing" body. The bodies were predominantly seen in fibers with disorganized intermyofibrillar networks and with high acid phosphatase activity. On electron microscopy, the reducing bodies consisted of fine granular material with the similar electron density to the chromatin granules and were located mostly around the degenerated nuclei, suggesting the nuclear degeneration playing a role in forming the reducing bodies.(ABSTRACT TRUNCATED AT 250 WORDS)

Topics: Child, Preschool; Female; Glycerolphosphate Dehydrogenase; Humans; Inclusion Bodies; Muscles; Muscular Diseases; Nitroblue Tetrazolium; Oxidation-Reduction; Vitamin K

According to the International Society on Thrombosis and Haemostasis (ISTH), intramuscular hematoma without other severity criteria is not considered a major bleeding.. In a large cohort of reversed vitamin K antagonist (VKA) patients admitted to the emergency unit for muscular hematoma, we assess frequency, severity, and anticoagulation management based on whether ISTH criteria were met or not.. We performed a retrospective single-center study involving patients admitted to an emergency unit for VKA-induced intramuscular hematoma whose bleeding was reversed with prothrombin complex concentrates.. During the study period, 631 VKA-induced bleeding events occurred in our emergency unit, of which 73 (11.6%) were intramuscular hematomas and half met ISTH criteria. The mean age was 75.5years (95% CI=72.6-78.3). Admission blood tests showed that patients with ISTH criteria had higher international normalized ratio (7.0±4.6 vs. 4.1±3.0, p=0.002) and lower hemoglobin (8.1±1.8 vs. 11.9±2.2, p<0.001) than those without. Patients with ISTH criteria were more likely to have intramuscular hematoma in the iliopsoas, gluteal, and pectoral muscles than those without. Interestingly, two-thirds of rectus sheath hematomas involved patients without ISTH criteria. However, patients with or without ISTH criteria exhibited a similar hospitalization duration and rate of re-bleeding.. We showed that half of the patients admitted with intramuscular hematoma could not be qualified as having ISTH-criteria major bleeding. Interestingly, these patients displayed a similar hospitalization duration and rate of re-bleeding to those with ISTH-criteria major bleeding.

Topics: Aged; Anticoagulants; Blood Coagulation Factors; Emergency Service, Hospital; Female; Follow-Up Studies; Hematoma; Humans; Inpatients; Male; Muscular Diseases; Prognosis; Retrospective Studies; Vitamin K

Topics: Adult; Anticoagulants; Antithrombin III; Antithrombin III Deficiency; Factor IX; Hematoma; Humans; Male; Muscular Diseases; Mutation; Phenprocoumon; Protein Precursors; Venous Thrombosis; Vitamin K

Topics: Acidosis, Lactic; Adolescent; Ascorbic Acid; Electron Transport; Energy Metabolism; Female; Humans; Mitochondria, Muscle; Muscular Diseases; Physical Exertion; Vitamin K

A patient with mitochondrial myopathy due to complex III deficiency who was treated with vitamin K3 (menadiol sodium diphosphate, 40 mg daily) and vitamin C showed clinical improvement. A 1-year study with phosphorus 31 nuclear magnetic resonance (31P-NMR) monitoring has shown that clinical and metabolic improvement was maintained by this therapy; increasing the dose of vitamin K3 to 80 mg daily improved the bioenergetic state of the patient's muscles at rest; postexercise recovery was less responsive to the increased dose; and a higher dose of vitamin K3 (80 mg/day) did not produce side effects. The differential therapeutic effects of vitamin K3 at rest and during exercise recovery are probably due to the differential kinetics of each metabolic state. Monitoring muscle bioenergetics with 31P-NMR is valuable in documenting therapeutic improvements in mitochondrial myopathies.

Topics: Adult; Ascorbic Acid; Drug Therapy, Combination; Electron Transport Complex III; Female; Follow-Up Studies; Humans; Magnetic Resonance Spectroscopy; Multienzyme Complexes; Muscles; Muscular Diseases; Phosphates; Phosphocreatine; Quinone Reductases; Vitamin K

Topics: Anti-Bacterial Agents; Child; Contracture; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Injections, Intramuscular; Injections, Subcutaneous; Muscular Diseases; Quadriceps Muscle; Thigh; Vitamin K

Topics: Animals; Denervation; Electron Transport Complex IV; Electrophoresis; In Vitro Techniques; Muscle Proteins; Muscles; Muscular Diseases; Muscular Dystrophies; Oxidoreductases; Rabbits; Sciatic Nerve; Starvation; Subcellular Fractions; Thyroxine; Vitamin E; Vitamin E Deficiency; Vitamin K