Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.6.99.3 (diaphorase)
 5,903 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old girl with normal psychomotor development during infancy began to have easy fatigability about 3 years of age. At the age of 5 years, she developed respiratory distress and became unconscious when the serum lactate and pyruvate levels were markedly elevated and a blood gas analysis showed respiratory and metabolic acidosis. Thereafter, she had similar episodic respiratory problems with lactic acidosis. Her muscle biopsy showed a myopathic pattern and numerous ragged-red fibers in an approximately half of muscle fibers. Lipid droplets were slightly to moderately increased in amount mostly in the ragged-red fibers. A biochemical analysis on the isolated mitochondria from the biopsied sample showed markedly decreased NADH cytochrome c reductase activity with no specific but rather uniformly decreased subunits of complex I by the immunoblotting method. She was diagnosed as having the myopathic form of complex I deficiency because she and her relatives with similar muscle symptoms had no central nervous system symptoms such as progressive mental deterioration, convulsions and stroke-like episodes. Diagnosis of complex I deficiency was further confirmed by an oxograph study; the oxygen consumption was not detectable when malate and pyruvate were added as the substrates in the isolated mitochondria. Although stroke-like episodes and convulsions are commonly seen in complex I deficiency, episodic respiratory distress as seen in the present patient has not been described in the literature.
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PMID:[A case of complex I deficiency with episodic respiratory distress]. 211 95

Two siblings with succinic acidemia, a hitherto unreported organic acidemia, were investigated. Succinic acidemia, lactic acidosis and respiratory distress were observed in one of the siblings, who died 37 days after birth, and succinic acidemia was also detected in the next sibling at the fetal stage. NADH-cytochrome c reductase activity was significantly low in both cases and NADH-ferricyanide reductase activity was also low in the fetal case, suggesting a complex I deficiency of the electron transport system in the mitochondrial membrane.
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PMID:Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. 238 80

Methemoglobin (MHb) is the oxidized form of Hemoglobin (Hb) containing iron in its ferric (Fe3+) rather than ferrous (Fe2+) state. Under physiologic conditions, diaphorase II accounts for only a small percentage of the red blood cell reducing capacity but can be pharmacologically activated by exogenous cofactors. Methemoglobinemia is an abnormal elevation of MHb levels resulting in impaired oxygen delivery to tissues as well as a left shift of the oxygen-Hb dissociation curve. We present the case of a 56-year-old female patient who underwent transesophageal echocardiography (TEE) prior to elective cardioversion. Prep for TEE included use of Hurricane spray. Twenty min after receipt, the patient's O2 saturation by pulse oximetry dropped from 100% to 86%; heart rate and blood pressure were unchanged. Physical exam revealed pallor, perioralcyanosis and acrocyanosis without tachypnea, respiratory distress, or jugular venous distension. A 100% non-rebreather mask provided no improvement. MHb was suspected and arterial blood gasses were drawn which was dark chocolate in appearance. Methylene Blue at 1 mg/kg over 5 minutes was administered empirically. ABG results were: pH 7.44/ CO2 40/ O2 315/ HCO2 26/ O2 sat 69%; MHb levels were 30.1% confirming the diagnosis of methemoglobinemia. This condition resolved within minutes. Though uncommon, MHb is the most Sported adverse event associated with topical benzocaine use. Untreated, it can lead to significant cardiopulmonary compromise, neurologic sequelae, and even death. Prompt recognition of this potentially life-threatening side-effect is essential in order to provide opportune treatment.
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PMID:Methemoglobinemia and transesophageal echo. 1860 50

Radiofrequency ablation (RFA) can be a therapeutic option in medically inoperable lung cancer patients. In this study, we evaluated a prototype bipolar RFA device applicator that can be deployed from a standard endobronchial ultrasound (EBUS) bronchoscope to determine feasibility and histopathological analysis in animal models. Rabbit lung cancers were created by transbronchial injection of VX2 rabbit cancer cells. Once the tumors were developed, they were ablated transpleurally, under EBUS guidance using the prototype RFA device. The animals were then sacrificed for specimen resection. Pig inflammatory lung pseudo-tumors and lymphadenopathy were created by transbronchial injection of a talc paste and ablated transbronchially under EBUS guidance. Pigs were evaluated at 5 days, 2 weeks, and 4 weeks following ablation by bronchoscopy and cone beam computed tomography before necropsy. Nicotinamide adenine dinucleotide hydrogen diaphorase staining was employed to measure the ablation area. Twenty-four VX2 rabbit tumors were ablated. The total ablated area ranged from 0.6 to 3.0 cm2 (mean: 1.8 cm2), corresponding to a total energy range of 1 to 6 kJ. Six pig lung pseudo-tumors and 5 mediastinal lymph nodes were ablated. Adjacent airway ulceration was observed in 3 ablations of lymph nodes. These airway complications resolved within 4 weeks of RFA without any treatment. There was no hemoptysis, air embolism, respiratory distress, or other serious complication noted. In these 2 animal models, we provide evidence that EBUS-guided bipolar RFA is feasible and histopathology shows that can ablate lung tumors and mediastinal lymph nodes under real-time ultrasound guidance.
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PMID:Endobronchial Ultrasound-Guided Radiofrequency Ablation of Lung Tumors and Mediastinal Lymph Nodes: A Preclinical Study in Animal Lung Tumor and Mediastinal Adenopathy Models. 3211 9