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)

We evaluated 40 patients suffering from a severe form a myotonic dystrophy (MD) with neuropsychological (WAIS-R, MMSE) and psychiatric tests (SADS, SRT) for the assessment of cognitive and psychiatric symptoms. We tested 20 normal volunteers as control group. Patients with MD scored significantly, lower on WAIS Full Scale (p less than 0.001), Verbal Scale (p less than 0.001), and Performance Scale (p less than 0.001) and on the MMSE (p less than 0.05) than the controls. 35% of patients met the Research Diagnostic Criteria for a psychiatric diagnosis; 17.5% of them had a depressive disorder. The scores on SADS subscales and on the SRT scale of depression were also significantly higher in patients than in controls. Our data confirm that mental impairment and psychiatric disorders are important clinical manifestations of CNS dysfunction in the severe form on MD.
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PMID:Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy. 155 84

The rate of muscle protein synthesis in patients with myotonic dystrophy has been studied, and results correlated with total muscle mass. Whole body and skeletal muscle protein synthesis were estimated by stable isotope methodology with a primed, continuous infusion of 1-[13C]leucine with measurement of incorporation of [13C]leucine into muscle protein in biopsy samples. Whole body leucine flux, protein synthesis, and protein breakdown were only slightly depressed, but muscle protein synthesis was markedly decreased, in myotonic dystrophy. This depression of muscle protein synthesis in myotonic dystrophy correlates with previous observations of impaired insulin-induced muscle uptake of amino acids and supports the suggestion that muscle wasting in this disease is the consequence of defective anabolism in muscle.
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PMID:In vivo estimation of muscle protein synthesis in myotonic dystrophy. 398 89

To investigate the etiological factors responsible for intellectual impairment and mood changes in patients with myotonic dystrophy (DM), we evaluated 14 patients with DM by means of neuropsychological evaluation and magnetic resonance images (MRI). There were significant differences between patients and controls in regard to the Barthel index, Zung's depression scale, attention, verbal fluency and digit span. All patients had ventricular enlargement and white matter abnormalities on MRI. However, the severity was variable and there was no difference in neuropsychological testing between patients with mild ventricular dilatation and those with severe dilatation. On the other hand, significant differences were present between patients with mild white matter lesions and those with severe white matter abnormalities in regard to verbal fluency and attention. Neuropathologic examination of an autopsied brain showed an increase in the interfascicular space of the white matter which produced pallor on myelin staining. The present findings suggested that the white matter abnormalities were the cause of cognitive impairment among patients with DM.
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PMID:Involvement of the central nervous system in myotonic dystrophy. 770 77

A 43 year old female with previously undiagnosed myotonic dystrophy received abdominal hysterectomy under spinal anesthesia. Respiratory arrest occurred when diazepam 5 mg was slowly administered intravenously during operation. Mask ventilation was continued during operation with nitrous oxide and pentazocine 30 mg i.v. After the operation ventilatory failure continued. Arterial blood gas analysis revealed pH; 7.21, Pao2; 57 mmHg, Paco2; 82 mmHg in spite of oxygen therapy by a face mask. For 5 days after the operation, oxygen therapy was necessary. The patient was diagnosed as myotonic dystrophy by further examination after the operation. In a patient with myotonic dystrophy, we should be very careful in administering a drug which may cause respiratory depression to prevent respiratory complication.
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PMID:[Respiratory arrest following diazepam administration during spinal anesthesia in a patient with myotonic dystrophy]. 807 58

We describe a patient with myotonic dystrophy who underwent cholecystectomy, and developed severe respiratory depression following epidural administration of morphine to provide postoperative analgesia. At preoperative assessment, he demonstrated near normal vital capacity and maximal voluntary ventilation, but the presence of chronic ventilatory failure with a resting value of PaCO2 51 mmHg. Anaesthesia was produced by a combination of epidural and light general anaesthesia without intravenous anaesthetics, narcotics or neuromuscular relaxants. Five hours after epidural administration of 2 mg morphine, the patient developed severe respiratory depression with a PaCO2 of 93 mmHg. Intravenous naloxone resulted in transient improvement in minute volume, suggesting that epidural morphine was responsible for the depression. Epidural morphine can cause unexpected respiratory depression, even at a small dose, because of the sensitivity of the respiratory centre to morphine in patients with myotonic dystrophy.
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PMID:Severe respiratory depression after epidural morphine in a patient with myotonic dystrophy. 822 38

Isometric contractions of the adductor pollicis muscle were studied in healthy subjects and patients with myotonic dystrophy after single and double stimuli of the ulnar nerve using a wide range of interstimulus intervals (ISI, 0.4-180 ms). In healthy subjects, the force contributed by a second stimulus was greater than the single twitch force being maximal (mean + 140%) at 12-ms ISI. In myotonic dystrophy, the force contributed by the second stimulus was (relative to a reduced twitch amplitude) increased (mean + 204%) with a maximum at 4.8-ms ISI. An abnormal increase of force was only recorded if the single twitch force was clearly reduced. The absolute refractory period of muscle contraction (normal range 1.2-1.6 ms, mean 1.35 ms) was shortened in all patients (mean 1.01 ms) except one (1.2 ms). The ISI showing the maximal force were related to those showing the maximal prolongation of the contraction time in healthy subjects (r = 0.71) but not in patients. The rate of force development contributed by a second stimulus was slower than expected from the summation of two single twitches with short stimulus intervals (3-40 ms) a phenomenon called early depression. In patients, the early depression was reduced or abolished within this range of ISI as has been found in dystrophic mouse muscles. The optimal ISI in patients was shifted towards very short times and together with the other disturbances it is suggested that activation of diseased muscle by motoneurons may be less effective, being an additional factor leading to weakness in myotonic dystrophy.
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PMID:Isometric muscle contractions after double pulse stimulation. comparison of healthy subjects and patients with myotonic dystrophy. 889 28

Patients with myotonic dystrophy present potential problems during and after anesthesia, especially respiratory dysfunction. A 42-year-old female with myotonic dystrophy associated with slight impairment of respiratory functions and muscular power, underwent abdominal total hysterectomy under epidural anesthesia uneventfully. To relieve pain after the surgery, a bolus of epidural morphine 2 mg was administered through an indwelling lumbar (L1-2) epidural catheter 30 minutes prior to the end of the surgery and followed with continuous epidural infusion of morphine at a rate of 0.083 mg.h-1 using a balloon (Multiday Infuser, Baxter) for three days. She obtained adequate analgesia after the surgery without respiratory depression or other major complications. We demonstrated that the continuous epidural infusion of morphine in a patient with myotonic dystrophy is safe and adequate for postoperative pain relief.
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PMID:[Postoperative continuous epidural infusion of morphine in a patient with myotonic dystrophy]. 895 73

Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed. A semistructured questionnaire, completed by the interviewer, was used to assess understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes to prenatal diagnosis (PND). Characteristic features of MD (muscle weakness and wasting and myotonia) were well known. Knowledge of other features and complications reflected experience. All subjects were aware that MD is inherited, but only 56% (14/25) knew the risk to their own children and subjects tended to overestimate this risk. Anticipation and maternal transmission of congenital myotonic dystrophy (CMD) were often misunderstood. Almost half of the subjects (12/25) perceived themselves to be moderately or severely affected and 40% (10/25) felt that their symptoms restricted daily life. Feelings of devastation, depression, worry about the future, and guilt at the risk of transmission to their children were described. Many subjects (10/25) said that the worst aspect of MD is the risk of transmission to their children. Over half (14/25) said that the risk of transmitting MD had influenced or would influence their own reproduction. Three-quarters of subjects who felt that MD had influenced their reproductive decisions (9/12) chose to limit their family or have no children; only 25% (3/12) requested PND. Subjects felt that the lack of information concerning clinical severity made PND for MD difficult to consider.
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PMID:Knowledge, views, and experience of 25 women with myotonic dystrophy. 986

Somnolence in myotonic dystrophy (DM) has not been measured using a reliable daytime somnolence scale. The aim of this study was to compare somnolence in DM patients with healthy controls and Charcot-Marie-Tooth disease (CMT) patients using such a scale and to compare this with potential contributory factors. We investigated 35 subjects with adult-onset DM, 16 healthy controls and 13 CMT controls. The Epworth Sleepiness Scale (ESS) was the principal measurement of daytime somnolence. Nocturnal sleep was assessed using a sleep diary. Other assessments measured daytime respiratory function, cognitive function, motor impairment, disability, swallowing capacity and depression. DM and CMT patients had greater daytime sleepiness than unaffected controls. In the DM group significant correlations were found between somnolence and measures of disability, sleep quality and some measures of depression. It was concluded that there is an abnormal level of daytime somnolence in DM, which is partially associated with disability.
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PMID:Daytime somnolence in myotonic dystrophy. 1036 95

We report the anesthetic management for a five year old boy with congenital myotonic dystrophy. The patient was scheduled for bilateral orchiopexy under general anesthesia. Anesthesia was induced with fentanyl 50 micrograms, vecuronium 0.6 mg and propofol 40 mg intravenously to facilitate tracheal intubation. During operation, we monitored train of four ratio (TOF) to confirm effect of muscle relaxation. Anesthesia was maintained with propofol (2 mg.kg-1.hr-1), nitrous oxide and caudal block. At the end of the operation, the patient recovered smoothly from anesthesia and post-operative course was uneventful. Congenital myotonic dystrophy presents many problems for the management of general anesthesia, because of respiratory or circulatory complications. In this case, we were careful not to use drugs which may cause respiratory or circulatory depression. We have demonstrated that anesthesia with propofol is a safe method for the anesthetic management of a patient with this disease.
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PMID:[Propofol anesthesia for a patient with congenital myotonic dystrophy]. 1051 85


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