Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.3.1.21 (CPT)
 4,580 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects.
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PMID:Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level. 1208 89

This study used a double-dissociation design to evaluate whether children with ADHD demonstrated specific deficits relative to children with Reading Disorders. Recent theory suggests that ADHD children have deficits in time perception and working memory, whereas RD children have deficits in phonological decoding. The performance of 113 clinic-referred children aged 6-11 was examined using measures of working memory, phonological processing, and time perception. Respondents completed two time production tasks in which they were to judge when 30-s had elapsed, and another in which they were asked to estimate the duration of the Conners' CPT (CCPT). Time Perception and phonological processing variables were submitted to a 2 x 2 ANCOVA (ADHD vs. RD), covarying for age, SES, IQ, and working memory. Children with ADHD were more likely to overestimate the time taken for the CCPT than children without ADHD, but no group differences were found on the 30-s estimation tasks. Children with RD did not display deficits in time estimation, but showed deficits in auditory phonological processing. The lack of interaction effects supported an "etiological subtype" over the "phenocopy" model of ADHD and RD. No group differences were detected using the CCPT. Although our previous studies did not find an order effect for the Conners' CPT in a 1-hr battery, a fatigue effect was evident with a 1.5-hr battery. The implications for Barkley's behavioral inhibition theories (R. Barkley, 1997) are discussed.
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PMID:Time perception: does it distinguish ADHD and RD children in a clinical sample? 1550 28

Smoking is highly prevalent among patients with Attention Deficit Hyperactivity Disorder (ADHD). Previous studies using the reversed continuous performance task (R-CPT) have suggested that nicotine reduces inattention. Since especially adults with ADHD have been claimed to suffer from a core deficit in inhibitory control, this study aimed at determining whether nicotine improves response inhibition in addition to attention. Sixteen healthy regular smokers participated in a pre/post treatment design in which transdermal patches containing 7 and 21 mg nicotine per day were administered in a counterbalanced, double-blind manner. In a second study, patches containing 0 mg (placebo) and 21 mg per day were administered to a different group of regular smokers. For replication purposes, the R-CPT and the profile of mood states (POMS) were administered. Furthermore, a different version of the continuous performance task (CPT-AX) and the stop-signal task, traditionally used to measure response inhibition, were presented. The high dose of nicotine was found to relieve self-reported Depression in Study 1 and Fatigue in Study 2. Performance data indicated acute effects of nicotine on attention-related, but not on inhibition-related measures. Especially the comparison with placebo revealed decreases in reaction time and variability of responding. The results imply that patients with ADHD smoke to reduce inattention.
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PMID:Acute effects of nicotine on attention and response inhibition. 1636 Aug 13

Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review of evidence from randomized controlled trials in McArdle disease (glycogen storage disease type V, muscle phosphorylase deficiency) and carnitine palmitoyltransferase (CPT) 2 deficiency. A brief overview on current treatment options in rhabdomyolysis is also included because patients with McArdle disease and CPT 2 often experience such potentially life-threatening complications.
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PMID:Therapeutic options in other metabolic myopathies. 1901 9

We investigated habituation effects during thermal quantitative sensory testing (tQST) using 8 repetitive measurements for thermal detection and pain thresholds. The same measurements were repeated two days later. 39 healthy subjects and 36 patients with chronic non-neuropathic pain syndromes (migraine, tension-type headache, non-radicular back pain) were enrolled. The pain intensity was assessed using an 11-point (0-10) numerical rating scale. Measurements correlated significantly over the two days in both groups (r=0.41...0.62). Warm detection (WDT) and heat pain threshold (HPT) revealed no significant differences over these days. Cold detection (CDT) and pain thresholds (CPT) showed significant differences but these were small compared to the range of normal variability (CDTDelta -0.28 degrees C; CPTDelta 1.51 degrees C). On both days, WDT showed no habituation during measurements. Although there was a small difference in CDT and CPT between first and second measurement, there was no habituation beyond the second stimuli. In contrast, HPT significantly increased between first and sixth stimuli, indicating pronounced habituation. Average HPT of first to third measurement was significantly lower than HPT of the fourth to sixth assessment (45.9 degrees C; 47.7 degrees C) with a good day-to-day repeatability. Repeatability and habituation was identical in both groups. Ongoing pain intensity in the patient groups correlated significantly with CDT/WDT but not with CPT, HPT, indicating that ongoing pain might suppress the sensitivity to non-painful stimuli. In summary, tQST proved a reliable diagnostic tool for clinical practice. Day-to-day differences were small but without clinical relevance. Habituation was most pronounced for HPT, probably due to peripheral fatigue of the receptors.
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PMID:Habituation and short-term repeatability of thermal testing in healthy human subjects and patients with chronic non-neuropathic pain. 1901 13

We report a case of stem fracture of a collarless, polished, double-taper cemented stainless steel femoral prosthesis. Scanning electron microscopy showed fatigue striations, indicating failure by fatigue. This case study highlights that stem fracture can still occur with modern implants. Size 0 CPT stem should be avoided in patients with high body mass index. To our knowledge this is the first case report of a CPT stem fracture used for primary total hip replacement.
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PMID:Stem fracture of a collarless, polished, double-taper cemented femoral prosthesis: a case report. 1905 9

A 61-year-old man admitted to our hospital for diarrhea and general fatigue was found in endoscopic and radiological examination to have sigmoid colon cancer with multiple liver metastases. The patient underwent sigmoidectomy (S, type 2, 105x78 mm, sSI (urinary bladder), sN0 (0/22), sH3 (Grade C), sP0, sM0, sStage IV). Pathological report was following: tub2, pSI (urinary bladder), ly0, v1, pN0(0/22), PM0, DM0, RM0. After operation, the patient received systemic chemotherapy (CPT-11+UFT/LV) with hepatic arterial infusion therapy(HAI). We could not observe any severe adverse events. We conducted hepatectomy because of partial response by chemotherapy. As of this writing 41 months after surgery, the patient continues to do well with no signs of recurrence. The combination chemotherapy of CPT-11+UFT/LV with HAI was safe and effective treatment for the patients with unresectable liver metastases from colorectal cancer.
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PMID:[A case report of multiple liver metastases from colorectal cancer effectively treated with systemic chemotherapy and hepatic arterial infusion]. 2003 62

Frailty is a geriatric syndrome characterized by muscle weakness, sarcopenia, and fatigue, and is associated with several adverse health outcomes, including disability. Design of therapeutic interventions for geriatric frailty has been challenging and may be because of inadequate understanding of its biological underpinnings. Carnitine is important for energy production in skeletal muscles and there seems to be a negative correlation between advancing age and muscle carnitine levels. Carnitine deficiency may therefore contribute to geriatric frailty. Age-associated carnitine deficiency from a variety of etiologies, including organic cation transporter (OCTN2) mutation and carnitine palmitoyltransferase II (CPT) deficiency, may potentially explain the relationship between carnitine-associated mitochondrial dysfunction and geriatric frailty. Development of therapeutic agents capable of prevention or reversal of carnitine deficiency in older adults may minimize the occurrence of frailty in geriatric populations.
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PMID:Mechanistic contribution of carnitine deficiency to geriatric frailty. 2022 99

Mesolimbic dopamine (DA) is a critical component of the brain circuitry regulating behavioral activation and effort-related processes. Rats with impaired DA transmission reallocate their instrumental behavior away from food-reinforced tasks with high response requirements, and instead select less effortful food-seeking behaviors. Previous work showed that adenosine A(2A) antagonists can reverse the effects of DA D(2) antagonists on effort-related choice. However, less is known about the effects of adenosine A(1) antagonists. Despite anatomical data showing that A(1) and D(1) receptors are co-localized on the same striatal neurons, it is uncertain if A(1) antagonists can reverse the effects DA D(1) antagonists. The present work systematically compared the ability of adenosine A(1) and A(2A) receptor antagonists to reverse the effects of DA D(1) and D(2) antagonists on a concurrent lever pressing/feeding choice task. With this procedure, rats can choose between responding on a fixed ratio 5 lever-pressing schedule for a highly preferred food (i.e. high carbohydrate pellets) vs. approaching and consuming a less preferred rodent chow. The D(1) antagonist ecopipam (0.2 mg/kg i.p.) and the D(2) antagonist eticlopride (0.08 mg/kg i.p.) altered choice behavior, reducing lever pressing and increasing lab chow intake. Co-administration of the adenosine A(1) receptor antagonists 8-cyclopentyl-1,3-dipropylxanthine (DPCPX; 0.375, 0.75, and 1.5 mg/kg i.p.), and 8-cyclopentyltheophylline (CPT; 3.0, 6.0, 12.0 mg/kg i.p.) failed to reverse the effects of either the D(1) or D(2) antagonist. In contrast, the adenosine A(2A) antagonist KW-6002 (0.125, 0.25 and 0.5 mg/kg i.p.) was able to produce a robust reversal of the effects of eticlopride, as well as a mild partial reversal of the effects of ecopipam. Adenosine A(2A) and DA D(2) receptors interact to regulate effort-related choice behavior, which may have implications for the treatment of psychiatric symptoms such as psychomotor slowing, fatigue or anergia that can be observed in depression and other disorders.
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PMID:Differential effects of selective adenosine antagonists on the effort-related impairments induced by dopamine D1 and D2 antagonism. 2060 Jun 75

Congenital deficiency of carnitine palmitoyltransferase (CPT) II is a disease with an autosomal recessive inheritance of phenotypic variability which depends on age at the onset of symptoms. Three entities associated with deficiency of CPT II are known: the perinatal, the infantile and the adult form. The perinatal disease is the most severe form and is invariably fatal. On the other hand, the adult CPT II clinical phenotype is benign and requires additional external triggers such as high-intensity exercise to provoke myopathic symptoms. We report a case of adult CPT II deficiency presenting with the subtle symptoms of myopathy. A 32-year-old man was admitted to the hospital complaining of muscle pain after exercise. Athletic appearance drew attention, because the patient denied practicing sport. Neurological examination revealed marked tiredness during the single-leg hop test without other abnormalities. Electromyography (EMG) and serum biochemistry were not typical for myopathy. Routine histopathological examination did not reveal any abnormalities of structure of muscle fibers. Diagnosis was established after ultrastructural and biochemical analysis which revealed changes typical for CPT II deficiency.
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PMID:[Myopathy in the course of carnitine palmitoyltransferase II deficiency]. 2331 29


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