Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011570 (depression)
 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

There is evidence for the occurrence of psychopathological symptoms in the adult form of myotonic dystrophy such as disturbance of concentration and memory, chronic depression, disturbed social behaviour, mental retardation, and hypersomnia. In this report we present a patient suffering from multisystemic myotonic myopathy without a cytosine-thymine-guanine [corrected] repeat expansion on chromosome 19q13.3 and schizophrenia. In this patient, a severe increase of creatine kinase (CK) occurred during treatment with olanzapine and amisulpride. The following risperidone medication was well tolerated without side effects. Susceptibility for malignant hyperthermia was detected by a positive in vitro contracture test. The occurrence of elevated muscle enzymes during treatment with atypical neuroleptics is suspicious as a possible side effect of neuroleptic medication and muscle disease.
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PMID:[Incompatibility of olanzapine and amisulpride in multisystemic myotonic myopathy]. 1157 7

We started establishing inbred strains of chicken and Japanese quail in 1970. In class Aves, full sib mating is highly difficult due to inbreeding depression. In the chicken, we attempted to establish some inbred strains in three breeds, Black Minorca, White Leghorn and Fayoumi by fixing all the characters that differentiate individuals homozygously. In this paper, we describe some marker genes and characters fixed in the inbred strains of chicken and Japanese quail as well as a calculation of a putative coefficient of inbreeding in 8 chicken inbred strains using band sharing values detected by AFLP analysis. We established generalized glycogenosis type II quail, myotonic dystrophy quail, neurofilament deficient quail, visually impaired chicken, double oviduct chicken with partial kidney deficiency, chicken showing spontaneous lymphocytic thyroiditis with feathered amelanosis, and chicken with a hereditary nervous disorder. The processes of establishment and characteristics of these animal models are described with some interesting information obtained from these animal models. In generalized glycogenosis type II quail, the results of enzyme replacement therapy and gene therapy are described.
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PMID:Establishment of inbred strains of chicken and Japanese quail and their potential as animal models. 1245 2

We report a case of 50-year-old male with myotonic dystrophy who underwent distal gastrectomy. A laryngeal mask airway (LMA) was inserted easily without using a muscle relaxant after propofol injection. Anesthesia was maintained with continuous propofol infusion and epidural anesthesia. The airway management with LMA enabled us to evaluate patient's awareness and respiratory pattern appropriately at the end of anesthesia. No respiratory complications, such as respiratory depression or atelectasis, occurred after surgery. We consider that LMA is useful for anesthetic management in a patient with myotonic dystrophy.
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PMID:[Anesthetic management with a laryngeal mask airway for gastrectomy in a patient with myotonic dystrophy]. 1453 Dec 62

We explored the relationship between frequency and perceived burden of different self-management activities and HbA1c%, symptoms of diabetes, fatigue, depression, and quality of life in 292 employees between 30 and 60 years of age with insulin-treated diabetes. Participants completed questionnaires that assess self-management and health-related variables. t-Tests were performed for type 1 (DM1) and type 2 diabetes (DM2) separately to compare the mean health scores of individuals who frequently or infrequently perform self-management activities and who do or do not perceive this as a burden. Participants frequently perform their self-management activities, particularly injection of insulin (96.1%), following dietary guidelines (70.8%) and eating regularly (65.6%). Dietary self-management is most often seen as a burden (70.4%), while injecting insulin is seen as least burdensome (12.8%). The perceived burden of self-management is more strongly related to health than the frequency of self-management. Frequency of self-management especially relates to HbA1c% in DM1. People with DM2 who frequently follow the dietary guidelines have more positive health outcomes. Participants who perceive dietary self-management and injecting insulin as a burden have more negative health outcomes. Because different relationships were found between frequency and perceived burden of self-management and health indicators, both aspects should be assessed and considered separately when evaluating self-management and examining patient's health.
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PMID:Frequency and perceived burden of diabetes self-management activities in employees with insulin-treated diabetes: relationships with health outcomes. 1581 66

This study compared the psychological adjustment between children with short stature and youth with type 1 diabetes mellitus (DM1). The Child Behavior Checklist, Children's Depression Inventory, Social Anxiety Scale for Children--Revised, and Asher Loneliness Scale were administered to 58 children (26 with short stature and 32 with DM1) and a parent during a regularly scheduled clinical appointment for endocrinology care. Results show that the parents of children with short stature rated their children as having more social, thought, and attention problems, and exhibiting greater delinquent behavior, as compared to parental ratings of children with DM1. No diagnostic group differences in child or parent-rated internalizing symptoms were found. Implications of these findings for personnel working with children with short stature are discussed.
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PMID:Psychological adjustment of children with short stature: a comparison of clinic-referred children with short stature and type 1 diabetes mellitus. 1584 74

We present a patient with myotonic dystrophy (MD) who was anesthetized with propofol using a target-controlled technique for electrophysiologic examination and cardiac catheter ablation. The patient became apneic unexpectedly at the same time when he fell asleep, with effect-site propofol concentration of 1.6 microg ml(-1). We had to insert a laryngeal mask airway (LMA), and mechanical ventilation was performed. The patient opened his eyes on verbal command at an effect-site concentration of 1.2 microg ml(-1) after the procedure. This concentration (1.2 microg ml(-1)) was slightly lower than our institutional average for adult male patients (1.5 +/- 0.2 microg ml(-1)). However, the time from the end of anesthesia to the patient's awakening was about 10 min. We considered that emergence from anesthesia was not delayed in this case. Careful titration of propofol by target-controlled infusion (TCI) enabled to evaluate the patient's sensitivity to propofol. We conclude that TCI of propofol was a useful anesthetic technique in the MD patient. Respiratory depression might occur in MD patients at low propofol concentrations. Precise control and titration over target propofol concentration is important in anesthetic management for MD patients.
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PMID:Target-controlled infusion of propofol for a patient with myotonic dystrophy. 1626 76

Patients with myotonic dystrophy presenting for surgery are exposed to the adverse effects of anaesthetics, especially if the condition has not been diagnosed. Respiratory depression due to increased sensitivity to anaesthetic and opioid drugs is of major concern in patients undergoing major surgery. Meticulous pre- and postoperative management, including pain management, is necessary to avoid morbidity and mortality.
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PMID:Myotonic dystrophy and pain management of a patient undergoing total abdominal hysterectomy in a metropolitan general hospital. 1691 52

The study aims to develop and assess metric proprieties of the Portuguese version of the Hospital Anxiety and Depression Scale. A sequential sample includes 1322 participants diagnosed with cancer, stroke, epilepsy, coronary heart disease, diabetes, myotonic dystrophy, obstructive sleep apnoea, depression and a non-disease group, which completed the HADS. The first step includes translation, retroversion, inspection for lexical equivalence and content validity, and cognitive debriefing. Then we reproduce oblique exploratory factor analysis and use confirmatory factor analysis. We explore the sensibility of the questionnaire. The validation process of the Portuguese HADS version shows metric properties similar to those in international studies, suggesting that it measures the same constructs, in the same way, as the original HADS form.
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PMID:Validation study of a Portuguese version of the Hospital Anxiety and Depression Scale. 1736 2

Cardiac abnormalities are frequently associated with myotonic dystrophy (MD), and electrocardiographic (ECG) changes are not rare in these patients. The most common ECG abnormalities are PQ or QT interval prolongation, low P wave amplitude, ST elevation or depression, negative T waves, conduction and rhythm abnormalities. We analysed ECG changes in 42 patients with MD. ECG abnormalities were obvious in 24 (57%) patients. The most prevalent ECG changes were sinus bradycardia and low P wave amplitude, occurring in 23 (55%) patients. Nineteen (45%) patients had QTc prolongation. PQ prolongation occurred in 16 (38%) patients, abnormal Q waves in 9 (21%), intraventricular conduction defects in 7 (16%) and QRS prolongation or T wave changes in 4 (9%) patients. We found no ST alterations. ECG changes were more frequent in patients with severe disease, but it was not statistically significant. There was no correlation between age and ECG abnormalities in our patients.
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PMID:[Frequency of electrocardiographic changes in patients with myotonic dystrophy]. 1797 41

Modafinil is a wake-promoting agent that is pharmacologically different from other stimulants. It has been investigated in healthy volunteers, and in individuals with clinical disorders associated with excessive sleepiness, fatigue, impaired cognition and other symptoms. This review examines the use of modafinil in clinical practice based on the results of randomized, double-blind, placebo-controlled clinical trials available in the English language in the MEDLINE database. In sleep-deprived individuals, modafinil improves mood, fatigue, sleepiness and cognition to a similar extent as caffeine but has a longer duration of action. Evidence for improved cognition in non-sleep-deprived healthy volunteers is controversial.Modafinil improves excessive sleepiness and illness severity in all three disorders for which it has been approved by the US FDA, i.e. narcolepsy, shift-work sleep disorder and obstructive sleep apnoea with residual excessive sleepiness despite optimal use of continuous positive airway pressure (CPAP). However, its effects on safety on the job and on morbidities associated with these disorders have not been ascertained. Continued use of CPAP in obstructive sleep apnoea is essential. Modafinil does not benefit cataplexy.In very small, short-term trials, modafinil improved excessive sleepiness in patients with myotonic dystrophy. It was efficacious in fairly large studies of attention deficit hyperactivity disorder (ADHD) in children and adolescents, and was as efficacious as methylphenidate in a small trial, but has not been approved by the FDA, in part because of its serious dermatological toxicity. In a trial of 21 non-concurrent subjects, with 2-week treatment periods, modafinil was as effective as dexamfetamine in adult ADHD. Modafinil was helpful for depressive symptoms in bipolar disorder in a trial that excluded patients with stimulant-induced mania. A single dose of modafinil may hasten recovery from general anaesthesia after day surgery. A single dose of modafinil improved the ability of emergency room physicians to attend didactic lectures after a night shift, but did not improve their ability to drive home and caused sleep disturbances subsequently.Modafinil had a substantial placebo effect on outcomes such as fatigue, excessive sleepiness and depression in patients with traumatic brain injury, major depressive disorder, schizophrenia, post-polio fatigue and multiple sclerosis; however, it did not provide any benefit greater than placebo.Trials of modafinil for excessive sleepiness in Parkinson's disease, cocaine addiction and cognition in chronic fatigue syndrome provided inconsistent results; all studies had extremely small sample sizes. Modafinil cannot be recommended for these conditions until definitive data become available.Modafinil induces and inhibits several cytochrome P450 isoenzymes and has the potential for interacting with drugs from all classes. The modafinil dose should be reduced in the elderly and in patients with hepatic disease. Caution is needed in patients with severe renal insufficiency because of substantial increases in levels of modafinil acid. Common adverse events with modafinil include insomnia, headache, nausea, nervousness and hypertension. Decreased appetite, weight loss and serious dermatological have been reported with greater frequency in children and adolescents, probably due to the higher doses (based on bodyweight) used. Modafinil may have some abuse/addictive potential although no cases have been reported to date.
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PMID:Approved and investigational uses of modafinil : an evidence-based review. 1872 34


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