Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-year old boy had had recurrent episodes of hepatic and cerebral dysfunction and underdeveloped musculature. Overt weakness developed at age 10. Lipid excess, especially in type I fibers, was found in muscle. Hypertrophied smooth endoplasmic reticulum and excessive microbodies were present in liver. Marked carnitine deficiency was shown in skeletal muscle, plasma, and liver. Ketogenesis was impaired on a high fat diet, but omega oxidation of fatty acids was enhanced. There was excessive glucose uptake and essentially no oxidation of labeled long-chain fatty acids by perfused forearm muscles in vivo. Oral replacement therapy restored plasma carnitine levels to normal, but not liver or muscle carnitine levels, and was accompanied by clinical improvement.
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PMID:The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. 23 82

The purpose of this review has been to examine the hypothesis that the Attention Deficit Hyperactivity Disorder (ADHD), formerly also referred to as the Hyperactive Syndrome or Minimal Brain Dysfunction (MBD), is a precursor of criminality and abuse of alcohol and illicit drugs. This has been done by reviewing findings from follow-ups. Most reviewed projects suffer from methodological weakness. In most materials, few if any of the cases had ADHD according to present criteria. Some had ADHD and conduct problems. Many probably had exclusively conduct problems, but were too young to fulfill the criteria of Conduct Disorder (CD). Methodological limitations of the examined projects have been pointed out. It has been discussed how weaknesses regarding research design might have influenced the results. As a consequence of methodological shortcomings of most projects, the reviewed studies do not give definite answers. However, they show some rather convincing trends. By early adulthood, ADHD appears to remain present in at least one third of the subjects. Subjects with prior ADHD did not have more mental problems than controls in adolescence and early adulthood, provided they had normal intelligence, and no additional disabilities or mental disorders. Those with mental retardation, cerebral dysfunction or psychosis in addition to ADHD have a poor prognosis. A high percent become psychotic, and some end up in institutions. Although there seems to be an increased rate of delinquency and lawbreaking in prior hyperactives compared to controls, these differences disappear when the results are analyzed. The initially impressive differences between cases and controls are probably consequences of bias. Cases with a childhood history of conduct and educational problems have been compared to controls without a history of such problems. Thus, the reported differences are not related to ADHD. Hyperactives without conduct problems do not have an increased frequency of delinquency. Problems of conduct, CD and Antisocial Personality Disorder, but not psychosis characterize cases with a childhood history of conduct problems (with or without ADHD). In subjects with ADHD as well as conduct problems in childhood, conduct problems and not ADHD predict the prognosis, which is worse than for those with CD without ADHD. ADHD combined with delinquency indicates a high rate of subsequent lawbreaking. Usually, cases have more problems than controls with alcohol and illicit drugs, but this might be the consequence of selection of cases (subjects with school and conduct problems) and controls (subjects without such problems).(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Follow-ups of children with attention deficit hyperactivity disorder (ADHD). Review of literature. 164 37

Hypoglycaemia is possibly the most frequent metabolic emergency, in that insulin-induced hypoglycaemia is a common side-effect of treatment of a common disease. The symptoms are partly sympathetic and related to the release of catecholamines. These symptoms include sweating, tremor, palpitations, sensation of hunger, restlessness and anxiety. Other symptoms are caused by an insufficient supply of glucose to the brain, resulting in neuroglucopenia with symptoms like blurred vision, weakness, slurred speech, vertigo and difficulties in concentration. Symptom recognition is the primary and most effective defence against cerebral dysfunction which is the ultimate consequence of hypoglycaemia. Even in insulin-treated diabetic patients symptom failure might occur. Patients who experience severe episodes of hypoglycaemia do not constitute a special subgroup of patients. However, near-normalization of blood glucose levels have resulted in an increase in the incidence of severe hypoglycaemia. Moreover, the threshold for hormonal counter-regulatory responses in adrenaline, growth hormone and cortisol is lowered after a period of strict metabolic control in insulin-dependent diabetic patients. The glucose level at which the patients become subjectively aware of hypoglycaemia is correspondingly reduced. Other reasons for hypoglycaemia to occur are oral hypoglycaemic agents, especially sulfonylureas which may be potentiated by other drugs. Prolonged hypoglycaemia may be seen after first-order sulfonylureas, and may indicate glucose infusion as treatment. Next to insulin and sulfonylurea, ethanol is the most common cause of hypoglycaemia. In non-diabetics, hypoglycaemia will typically develop 6-24 h after a moderate or heavy intake of ethanol by a person who has had an insufficient intake of food for 1 or 2 days. Insulin-producing tumours, insulinomas and non-islet cell tumours may also be reasons for hypoglycaemia in non-diabetics. Treatment of mild episodes of hypoglycaemia is intake of fast-absorbing carbohydrates. Severe episodes can be treated with either i.v. dextrose or glucagon injected i.m. or i.v. The glycaemic response and recovery of a normal level of consciousness is 1-2 min slower after glucagon than after glucose.
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PMID:Endocrine emergencies. Hypoglycaemia. 173 95

A fifth case of oculomasticatory myorhythmia associated with cerebral Whipple's disease is reported. This peculiar abnormal movement has never been described in association with cerebral dysfunction other than Whipple's disease. The present case exhibited rhythmic convergence of the eyes and synchronous (1-2 Hz) contractions of the masticatory muscles and of the proximal and distal skeletal muscles. These abnormal movements occurred 13 years after the beginning of the disease. They were persistent and unchanged until the death of the patient 3 months later. No treatment was effective to suppress the involuntary movements (clonazepam, baclofen, antibiotics). Associated neurological signs included global supranuclear ophthalmoplegia, facial weakness, bilateral ptosis, absent gag reflex, and intellectual deterioration.
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PMID:Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple's disease. 246 61

A 7-year-old girl developed recurrent episodes of hepatic and cerebral dysfunction which mimicked those in Reye syndrome (RS). Because of mild muscle weakness, she had repeated muscle biopsies which showed markedly increased amounts of lipid droplets, predominantly in type 1 fibers. Liver histological examination showed widespread hepatocellular steatosis. However, diffuse microvesicular fat, seen in RS, was not found in the cytoplasm. The concentrations of free- and acylcarnitine in serum and muscle were within normal ranges. Normal ketogenesis was induced by fasting. Based on the clinical, laboratory, and histopathological findings, our patient was initially thought to have systemic carnitine deficiency. However, the serum and muscle carnitine levels were within normal limits. Although the primary metabolic defect has yet to be elucidated, the present study indicates that lipid storage myopathy in the absence of carnitine deficiency can be complicated with RS-like episodes.
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PMID:Lipid storage myopathy associated with recurrent Reye syndrome-like attacks, but with a normal carnitine level. 338 75

A group of 23 professional divers was investigated before and after dives to 300 and 350 metres of sea water. 12 divers were also studied during the actual dive. All divers presented neurological symptoms and signs during compression. Intention tremor, ataxia, motor weakness, sensory symptoms, vertigo, nausea and reduced memory were the most prominent features of the High Pressure Nervous Syndrome (HPNS). There were considerable individual differences. Neuropsychological and neurophysiological investigations performed after one dive showed no significant changes in any of the divers, while there was a clear-cut impairment in a group of 6 divers who had performed 2 dives 3 months apart. These changes indicate that there may be pressure-induced brain dysfunction which persists for a transient post-dive period. Loss of short-term memory is a prominent part of this dysfunction. Transitory neurological signs indicating focal cerebral dysfunction were found immediately post-dive in 4 divers, presumably reflecting the unmasking of pre-existing subclinical minimal CNS lesions.
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PMID:Central nervous dysfunction associated with deep-sea diving. 397 49

The accepted beneficial effects of hyperbaric oxygen (HBO) include a greatly diminished carboxyhemoglobin (COHgb) half-life, enhanced tissue clearance of residual carbon monoxide (CO), reduced cerebral edema, and reversal of cytochrome oxidase inhibition, and prevention of central nervous system lipid peroxidation. Debate regarding the criteria for selection of HBO versus 100% normobaric oxygen therapy continues, and frequently is based solely on the level of COHgb saturation. Patients who manifest signs of serious CO intoxication (unconsciousness, neuropsychiatric symptoms, cardiac or hemodynamic instability) warrant immediate HBO therapy. An unresponsive 33-year-old woman was found in a closed garage, inside her automobile with the ignition on. Her husband admitted to seeing her 6 hours before discovery. 100% normobaric oxygen was administered in the prehospital and emergency department settings. The patient had an initial COHgb saturation of 46.7%, a Glasgow coma score of 3, and was transferred for HBO therapy. Before HBO therapy, the patient remained unresponsive and demonstrated decerebrate posturing and a positive doll's eyes (negative oculocephalic reflex). The electroencephalogram pattern suggested bilateral cerebral dysfunction consistent with a toxic metabolic or hypoxic encephalopathy. The patient underwent HBO therapy at 2.4 ATA for 90 minutes twice a day for 3 consecutive days. On day 7, the patient began to awaken, was weaned from ventilatory support, and was not soon verbalizing appropriately. A Folstein mental status examination showed a score of 26 of 30. Neurological examination demonstrated mild residual left upper extremity weakness and a normal gait. There was no evidence of significant neurological sequelae at 1 month follow-up.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Coma reversal with cerebral dysfunction recovery after repetitive hyperbaric oxygen therapy for severe carbon monoxide poisoning. 817 65

We report the case of a boy who developed a motor neuropathy during infectious episodes at 18 mo and 3 y of age. When he was 7 y old, he suffered persistent weakness and areflexia; his resting lactate and pyruvate values were 3.65 mM and 398 microM, respectively (controls: 1.1 +/- 0.3 mM and 90 +/- 22 microM), and an exercise test demonstrated a lactic acidosis (13.6 mM; controls: 6.4 +/- 1.3 mM) with a high pyruvate level (537 microM; controls: 176 +/- 15 microM) and a low lactate/pyruvate ratio (24.2; controls: 35 +/- 2). The results of polarographic studies on muscle mitochondria suggested a defect in pyruvate oxidation (pyruvate 17 ng atom O/min/mg protein; controls: 115 +/- 42), whereas glutamate, palmitoylcarnitine, and succinate were good respiratory substrates. The activity of total pyruvate dehydrogenase complex (PDHC) in muscle mitochondria and in fresh mononuclear cells was markedly decreased (9.7 and 0.054 nmol 14CO2/min/mg protein, respectively; controls: 123 +/- 4.5 and 0.733 +/- 0.03, respectively). Immunochemical analysis in muscle mitochondria demonstrated an absence of the alpha and beta E1 PDHC subunits. After 2 y of treatment with 500 mg/d thiamine, the patient was clinically improved. A genetic study of the main regions of mutations (exon 10 and 11) in the X chromosome encoding for the E1 alpha subunit of PDHC did not show any mutation. These data indicate that, although genetically different, this case enters in a very rare category of patients with PDHC deficiency without cerebral dysfunction and improved by thiamine + L-carnitine therapy.
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PMID:E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. 846 66

Migraine is caused by intermittent brain dysfunction. Attacks result in severe unilateral headache with nausea, vomiting, photophobia, phonophobia and general weakness. The prevalence of migraine is 12 to 20% in women and 8 to 12% in man. Treatment of an acute attack is done by antiemetics in combination with analgesics. Severe migraine attacks are treated with ergotamine or sumatriptan. Parenteral treatment is performed most efficiently and safely with i.v. ASA. Frequent and severe attacks require prophylaxis. Drugs of first choice are metoprolol, propranolol, flunarizine and cyclandelate. Substances of second choice are valproic acid, DHE, pizotifen, methysergide and magnesium. Homeopathic remedies are not superior to placebo. Nonpharmacological treatment consists of sport therapy and muscle relaxation techniques.
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PMID:[Migraine--diagnosis, differential diagnosis and therapy]. 913 7

Positron emission (PET) and single-photon emission tomography (SPECT) are validated functional imaging techniques for the in vivo measurement of many neuro-phsyiological and neurochemical parameters. Research studies of patients with a broad range of neurological and psychiatric illness have been published. Reproducible and specific patterns of altered cerebral blood flow and glucose metabolism, however, have been demonstrated and confirmed for only a limited number of specific illnesses. The association of functional scan patterns with specific deficits is less conclusive. Correlations of regional abnormalities with clinical symptoms such as motor weakness, aphasia, and visual spatial dysfunction are the most reproducible but are more poorly localized than lesion-deficit studies would suggest. Findings are even less consistent for nonlocalizing behavioral symptoms such as memory difficulties, poor concentration, irritability, or chronic pain, and no reliable patterns have been demonstrated. In a forensic context, homicidal and sadistic tendencies, aberrant sexual drive, violent impulsivity, psychopathic and sociopathic personality traits, as well as impaired judgement and poor insight, have no known PET or SPECT patterns, and their presence in an individual with any PET or SPECT scan finding cannot be inferred or concluded. Furthermore, the reliable prediction of any specific neurological, psychiatric, or behavioral deficits from specific scan findings has not been demonstrated. Unambiguous results from experiments designed to specifically examine the causative relationships between regional brain dysfunction and these types of complex behaviors are needed before any introduction of functional scans into the courts can be considered scientifically justified or legally admissible.
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PMID:Medical-Legal Inferences From Functional Neuroimaging Evidence. 1032 Apr 20


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