Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thiopental was administered for seizure control in 2 patients with uncontrollable seizures. Serum samples were collected from each patient and assayed for thiopental, and the resulting serum concentration--time data were analyzed pharmacokinetically. The biologic half-life in both patients was significantly longer than previously reported values. Based on the limited number of patients studied, it would appear that half-life and volume of distribution increase with the degree of obesity, while clearance remains unchanged. These pharmacokinetic characteristics would be worthy of consideration in cases where there may be prolonged use of thiopental, eg., for the control of uncontrollable seizures.
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PMID:Pharmacokinetic properties of thiopental in two patients treated for uncontrollable seizures. 10 93

To date, in publications on hamartomas, precocious puberty and laughing seizures have been discussed, but behavioural and cognitive abnormalities have been neglected. Therefore, we report a 14-year-old girl with a proven hamartoma, in which abnormalities of behaviour and cognition played an important role within the somatopsychic complex. In our patient, urinary incontinence during the seizures and psychiatric symptoms, such as eating disorder with obesity, school phobia, antisocial behaviour, withdrawal and cognitive problems (e.g. general slowness, deficiency of cognitive flexibility) came to the fore. The girl had not attended school regularly for almost 2 years, had stayed at home and was overtaxed psychosocially. The seizures and the urinary incontinence improved with drug treatment, but psychiatric difficulties increased and remained untreated until the girl came to a child psychiatric inpatient clinic where drug treatment and behavioural therapy were combined. During well-coordinated neurological and psychiatric treatment the laughing seizures (spontaneous, event-related, psychogenic) decreased and a considerable improvement in psychiatric and psychosocial problems was attained. Consequently, we recommend a close and timely integration of the psychiatric aspects in the treatment of children with hamartomas.
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PMID:Psychiatric disturbances in children with hamartomas: a neglected somatopsychic issue. A case report. 149 56

Based on postmortem records at the Wayne County Medical Examiners' Office from 1982 to 1986, autopsy results indicated that the deaths of 129 persons aged 20-34 resulted from heart disease: 51 of these deaths were attributed to atherosclerotic cardiovascular disease (ASCVD), 29 to hypertensive cardiovascular disease, 28 to cardiomyopathy, and 21 to other cardiac causes. The majority of the deaths due to ASCVD occurred among men, both black and white, followed by black women, and the incidence increased with age. All of these deaths due to ASCVD were sudden and accounted for all deaths due to ischemic heart disease in this age group among Wayne County residents. Diabetes mellitus, left ventricular hypertrophy, a history of seizures, and the recent ingestion of alcohol were all found to be associated with sudden death from ASCVD in this group. Obesity did not seem to be a significant factor. These data suggest that ASCVD is not rare as a cause of death in young adults and some of the risk factors identified in older subjects also operate in this age group.
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PMID:Atherosclerotic cardiovascular disease and sudden deaths among young adults in Wayne County. 222 Jul 3

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

Benign intracranial hypertension (pseudotumor cerebri), a syndrome common to a number of disorders, is characterized by headaches and blurred vision. The patient is alert and has papilledema without localizing signs. Air studies show normal ventricles under increased pressure. The authors describe 61 consecutive cases of this pseudotumour, 48 of which were in fat young women, and propose that this group represents a clinical entity that has hitherto received little attention.In these 61 patients, 40 complete-exchange pneumoencephalograms showed normal ventricles, normal fluid volume and prominent cortical sulci. In 32, subtemporal decompression resulted in prompt and lasting relief. Three patients had late convulsive seizures after surgery. Seven patients had nasal quadrantanopsias, the implications of which are discussed. The authors believe that the high intracranial pressure in this condition is due to cerebral hyperemia, not brain edema. Further investigation will perhaps demonstrate a relationship between obesity, vascular dilatation and increased intracranial pressure.
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PMID:Benign intracranial hypertension with particular reference to its occurrence in fat young women. 529 76

A girl presented with small stature, obesity, tapetoretinal degeneration, deafness, psychomotor regression, seizures, acanthosis nigricans, hepatomegaly, and chronic tubulointerstitial nephropathy. She died at age ten with renal insufficiency and uncontrolled seizures. Histochemistry showed lipid storage in hepatocytes, histiocytes, smooth muscles and, to a much lesser extent, kidney tubules and cortical neurons. The liver had increased cholesterol esters (5-fold) and triacylglycerols (8-fold), and decreased phospholipids (50%). Methyllumbelliferyl-oleate, oleylcholestrol, trioleylglycerol, and tripalmitylglycerol lipase activities were markedly reduced in the liver, in the range found in Wolman's disease. In cirrhotic fatty livers these activities ranged from 7-87% of the normal mean. The patient's brain had limited neutral lipid storage and normal methyllumbelliferyl-oleate lipase. Trioleylglycerol lipase activity was 14-60% of controls; tripalmitylglycerol lipase activity 14-25% of controls; and oleylcholestrol lipase activity 12-33% of controls.
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PMID:Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome. 715 65

Four boys aged 6-16 years with neurodevelopmental deficits were treated with CPAP for obstructive sleep apnoea. Their diagnoses were: Obesity with mild mental retardation, (2) attention deficit hyperactivity disorder, (3) epilepsy associated with left hemiparesis and (4) mild mental retardation due to fragile X syndrome. Previous therapeutic attempts, including adenotonsillectomy, amitriptyline and methylphenidate in our patients prior to CPAP treatment were unsuccessful. A follow-up period of 12-48 months demonstrated a number of clinical benefits such as improvement in sleep quality and daily arousal, and a decrease in the frequency of seizures and episodes of pneumonia. Polysomnographic studies indicated a significant improvement in sleep parameters such as apnoea frequency, awakenings, sleep efficiency and arterial oxygen saturation. Side effects were mild and readily alleviated. CPAP is a feasible therapeutic intervention in intractable obstructive sleep apnoea of childhood, even when associated with neurodevelopmental deficits.
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PMID:CPAP treatment of obstructive sleep apnoea and neurodevelopmental deficits. 754 99

We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia, obesity, petit-mal seizures, non-progressive precocious puberty, absence of respiratory response to CO2 and probably insensitivity of hyposensitivity to pain. She also had hyperprolactinaemia and decreased human growth hormone secretion. Hypothyroidism of central origin and hyposecretion of cortisol were also present. Multiple brain CT-scans failed to reveal any tumour or other anatomical abnormality. Her clinical course was improved initially by treatment with clomipramine, but she died suddenly, and the autopsy failed to disclose any anatomical lesion. We compare this case with three similar previously reported cases.
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PMID:Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. 768 46

Caffeine is widely consumed in beverages to obtain mild CNS stimulant effects. Long term use produces tolerance to some of the pharmacological effects. Withdrawal of caffeine, even from moderate intake levels, can produce symptoms such as headache, fatigue and anxiety. Caffeine is used therapeutically in combination with ergotamine for migraine headaches and in combination with nonsteroidal anti-inflammatory drugs in analgesic formulations. Caffeine alone is used as a somnolytic, to treat various headache conditions, respiratory depression in neonates, postprandial hypotension and obesity, and to enhance seizure duration in electroconvulsive therapy. In some headache and in pain paradigms, caffeine may produce direct adjuvant analgesic properties, while in other headache conditions (perioperative, postdural puncture) caffeine may be effective by alleviating a manifestation of caffeine withdrawal. Other uses, such as to promote wakefulness, for respiratory stimulation and seizure prolongation, rely on central stimulant properties of caffeine. Effects of caffeine on the vasculature may contribute to the relief of some headaches and in postprandial hypotension. Blockade of methylxanthine-sensitive adenosine receptors is the currently accepted mechanism of action of caffeine.
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PMID:Pharmacological rationale for the clinical use of caffeine. 770 15

We identified seven patients with refractory partial epilepsy and sleep apnea. Treatment of the sleep apnea with nasal continuous positive airway pressure (CPAP), protriptyline, trazodone, acetazolamide, or tracheostomy reduced seizure frequency and severity in six patients. Success with CPAP depended largely on compliance. Four of five patients had a clear reduction in seizure frequency with the use of CPAP. Sleep apnea may exacerbate epilepsy by causing sleep disruption and deprivation, hypoxemia, and decreased cerebral blood flow. In epilepsy patients with risk factors (eg, obesity) or markers (eg, habitual snoring, daytime somnolence) for sleep apnea, a careful sleep history should be elicited and a polysomnogram obtained when indicated. Treatment of the sleep disorder can improve seizure control.
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PMID:Epilepsy and sleep apnea syndrome. 884 27


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