Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
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PMID:Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia. 66 27

A 29-year-old obese man had marked tonsillar hypertrophy, somnolence, hypoxemia, and hypercapnia. Endotracheal intubation followed by tracheostomy relieved the hypoventilation. Weight loss improved the arterial blood gas levels. Sequential upright and supine flow-volume loops were compatible with a fixed upper-airway obstruction (such as would occur) with enlarged tonsils) prior to tonsillectomy. Following surgery, the expiratory flow-volume curve was abnormal in the supine position, consistent with the additional diagnosis of posterior pharyngeal hypotonia. Thus, in this patient the unique combination of tonsillar hypertrophy, posterior pharyngeal hypotonia, obesity, and a depressed respiratory center led to retention of carbon dioxide.
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PMID:Tonsillar hypertrophy in an adult with obesity-hypoventilation syndrome. The use of the flow-volume loop. 97 91

Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other antiepileptic drugs. Its chief uses are in status epilepticus, in which intravenous clonazepam may replace diazepam as the drug of first choice, and in the minor motor seizures of childhood, particularly petit mal absences, the Lennox-Gastaut syndrome and infantile spasms. Clonazepam is also at least as effective as current treatment in psychomotor and myoclonic epilepsies, but seems unlikely to replace phenytoin and the barbiturates in the treatment of grand mal or focal motor seizures except in patients resistant to standard therapy. Initial success with clonazepam can be followed by loss of effect, but benefit can often be restored, at least initially, by temporary interruption and re-institution of treatment. Side-effects are common with clonazepam. Most patients experience drowsiness and fatigue, which are frequent causes of withdrawal, together with lesser incidences of ataxia, dystonia, hypotonia, and hyperactivity. These effects usually disappear with continued therapy, and are minimised by gradual introduction of the drug over 2-4 weeks. Hypersalivation and excessive bronchial secretion may be a problem in children and infants.
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PMID:Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy. 97 34

Even though acute poisonings with benzodiazepines are extremely common, less is known of the clinical toxicity of recent derivatives, particularly in children. 1,989 cases involving ethyle loflazepate, flunitrazepam, prazepam or triazolam recorded at the Lyons Poison Center and due to 1 compound and associated with clinical symptoms were selected for study. Children less than 16-y of age accounted for 482 cases. Sleepiness, agitation and ataxia were significantly more frequent in the children. Hypotonia was seldom observed but was indicative of severe poisoning. The dangerous toxic dose of these compounds in children is suggested to be 0.78-0.90 mg ethyle loflazepate/kg, 0.26-0.29 mg flunitrazepam/kg, 7.80-9.00 mg prazepam/kg and 0.06-0.07 mg triazolam/kg. These results are in keeping with the relatively low acute toxicity of the older benzodiazepines.
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PMID:Acute poisonings with ethyle loflazepate, flunitrazepam, prazepam and triazolam in children. 135 7

Infantile spasms usually start during the first year of life and constitute one of the most difficult types of epilepsy to treat. They carry a very poor prognosis for both epilepsy and mental development. Seventy children, including 47 infants, with intractable infantile spasms were entered into an open study with vigabatrin as add-on therapy to the usual anticonvulsant treatment. All were resistant to previous treatments, including corticosteroids (43 patients), carbamazepine, benzodiazepines, and sodium valproate. Two children withdrew from the study because of intolerance to vigabatrin (hypotonia or hypertonia) before evaluation of efficacy could be made. Of the remaining 68 children, 29 (43%) showed complete suppression of spasms. Forty-six children had a greater than 50% reduction in spasms. The best response was observed in those with tuberous sclerosis (12/14 compared with 12/18 with symptomatic infantile spasms of other origin and 22/36 with cryptogenic infantile spasms). Following the initial response to treatment of these patients (n = 68), a long-term response was confirmed in 75% of children with symptomatic infantile spasms and 36% of children with cryptogenic infantile spasms. In eight children, all other anticonvulsant medication could be definitively withdrawn. Tolerability appeared excellent, with 52 of 70 patients reporting no side effects. Somnolence, hypotonia, weight gain, excitation, and insomnia were the most common problems at the beginning of the study and were usually transient. Given the poor prognosis of this type of childhood epilepsy, vigabatrin appears to be a very interesting advance in the management of drug-resistant infantile spasms.
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PMID:Therapeutic trial of vigabatrin in refractory infantile spasms. 194 Jan 25

Examination of 15 patients with clofelin poisoning cleared up clinical symptoms of the condition. The impairment was chiefly inflicted to cardiovascular system and neuropsychic status. There appeared arterial hypotonia, long-term orthostatic hypotonia combined with bradycardia and extrasystolic arrhythmia. Early hours of poisoning can be accompanied with high pressure (hypertensive phase). ECG records sinus bradycardia and early ventricular repolarization. Neuropsychic alterations involve drowsiness, stupor++, psychic inhibition, visual and auditory hallucinations, photopsia. The condition was managed symptomatically. All the patients recovered.
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PMID:[Clinical aspects and diagnosis of klofelin poisoning]. 208 35

Previous reports of accidental ingestion of cannabis by children are rare. None has reported coma, although one described a stuporous state that required assisted ventilation. Over the past four years, the staff of British Columbia's Children's Hospital has managed six children with cannabis toxicity, three of whom presented in coma, including one with airway obstruction. Recurring diagnostic features included rapid onset of drowsiness, moderate pupil dilation, hypotonia, lid lag, and the presence of small granules or leaves in the mouth. Confirmation was obtained by positive urine screening for cannabinoids. The six cases described emphasize the need for emergency physician awareness of possible diagnostic criteria, the potential severity of intoxication, and the need for prevention through parent education.
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PMID:Ingestion of cannabis: a cause of coma in children. 260 98

We studied the effect of the intrathecal infusion of baclofen, an agonist of gamma-aminobutyric acid, on abnormal muscle tone and spasms associated with spinal spasticity, in a randomized double-blind crossover study. Twenty patients with spinal spasticity caused by multiple sclerosis or spinal-cord injury who had had no response to treatment with oral baclofen received an intrathecal infusion of baclofen or saline for three days. The infusions were administered by means of a programmable pump implanted in the lumbar subarachnoid space. Muscle tone decreased in all 20 patients (mean [+/- SD] Ashworth score for rigidity, from 4.0 +/- 1.0 to 1.2 +/- 0.4; P less than 0.0001), and spasms were decreased in 18 of the 19 patients who had spasms (mean [+/- SD] score for spasm frequency, from 3.3 +/- 1.2 to 0.4 +/- 0.8; P less than 0.0005). Tests for motor function, neurologic examination, and assessments by the patients correctly indicated when baclofen was being infused in all cases. All patients were then entered in an open long-term trial of continuous infusion of intrathecal baclofen. During a mean follow-up period of 19.2 months (range, 10 to 33), muscle tone has been maintained within the normal range (mean Ashworth score, 1.0 +/- 0.1) and spasms have been reduced to a level that does not interfere with activities of daily living (mean spasm score, 0.3 +/- 0.6). No drowsiness or confusion occurred, one pump failed, and two catheters became dislodged and had to be replaced. No infections were observed. Our observations suggest that intrathecal baclofen is an effective long-term treatment for spinal spasticity that has not responded to oral baclofen.
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PMID:Intrathecal baclofen for severe spinal spasticity. 265 24

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
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PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

Electrocorticographic activity was automatically recorded in albino rats for 72 consecutive h and analyzed by procedures suitable to detect 24-h rhythms. Beta (alert wakefulness), theta (somnolence), delta (slow wave sleep) and sigma 1 (superficial synchronized sleep) activities showed a robust circadian rhythmic distribution. The acrophases (maxima of the adjusted cosine curve) occurred at 23:39, 07:59, 08:37 and 13:25 h, respectively. EMG atonia and extreme hypotonia (less than 10% of mean EMG level) episodes showed a 24-h rhythm peaking at 14:18 h. The temporal sequence within the circadian rest period, i.e., somnolence, slow wave sleep, superficial synchronized sleep and paradoxical sleep, is very similar to that known to occur during the nocturnal sleep of humans.
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PMID:Remarkable similarities between the temporal organization of neocortical electrographic sleep patterns of rats and humans. 322 43


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