摘要:

Diseases as different as cardiac arrhythmias, epilepsy, myotonia, malignant hyperthermia, familial hyperinsulinism, and Bartter syndrome have all been linked to mutations in genes encoding ion channels. This has been made possible by an exciting and fruitful collaboration between clinicians, geneticists, and physiologists. It has led to a more detailed understanding not only of pathology but also of physiology, as the deficiency of a certain gene helps unravel its physiologic role. Some exciting and surprising findings have recently been made in the field of “channelopathies.” Understanding these diseases on the molecular level will provide the basis for a rational therapeutic approach to affected patients.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

Recent research has advanced the understanding of many diseases to a molecular level. Described here is the case of a teenage girl with proteinuria and primary amenorrhea. We present the current knowledge of her underlying disorder, Frasier syndrome, and its genetic basis, which are specific mutations in the Wilms tumor gene. The findings in Frasier syndrome research are contrasted with those of a related disorder, Denys-Drash syndrome, which is caused by different mutations in the same gene.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

Household products continue to be a cause of poisoning morbibidity and mortality. Young children frequently are exposed to cleaning products and cosmetics in the course of exploring their environment. Most of these exposures are insignificant, but some result in death or permanent disability. This review discusses two products that have been responsible for serious injury and death in children: hydrofluoric acid and methacrylic acid. It also discusses federal initiatives designed to protect children from these and other household hazards.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

Herbal medicaments are in common use. In general, the judicious use of carefully selected and prepared herbal medications seems to cause few adverse effects and may be beneficial. However, toxic effects of these products have been reported with increasing frequency. Infants and children may be even more susceptible to some of the adverse effects and toxicity of these products because of differences in physiology, immature metabolic enzyme systems, and dose per body weight. Although information promoting the use of herbal medicine is widespread, true evidence-based information about the efficacy and safety of herbal medications is limited. Although the most conservative approach is to recommend against use of herbal medicine until such evidence is available, some patients are not receptive to this approach. A reasonable approach for health care providers may be to follow such use closely, assist in herbal therapeutic decisions, and monitor for adverse effects and interactions. This manuscript discusses general concepts about herbal medicines, public health implications, and a framework for mechanisms of adverse effects from the use of botanicals. Adverse effects and toxicity of selected herbal products, including Chinese herbal medicines, are presented. The authors propose a risk reduction approach in which physicians actively seek information about the use of complementary or alternative medicine while taking medical histories.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

References to the wordecstasyin popular culture can mean different things to different individuals. The most common form of ecstasy (3,4-methylenedioxymethamphetamine [MDMA]), is an amphetamine with some hallucinogenic properties at high doses. It is directly neurotoxic to the human brain and has been linked to a number of deaths worldwide. Deaths result from hyperthermia, hyponatremia, or cerebral edema. A naturally occurring metabolite of gamma-aminobutyric acid, gammahydroxybutyrate (GHB) is a potent central nervous system depressant. Although GHB is a Schedule I drug, analogs remain widely available for consumption. Acute intoxication with GHB or its analogs leads to coma and respiratory depression. Chronic use of GHB or its analogs is associated with a withdrawal syndrome characterized by autonomic excitation.Herbal ecstasyrefers to ephedrine-containing preparations. Acute and chronic overdoses of herbal ecstasy have been linked to hypertension, tachydysrythmias, myocardial infarctions, cerebrovascular accidents, and deaths. There is no regulation of the ephedrine content of available herbal ecstasy products.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

Acetaminophen is currently the pediatric analgesic and antipyretic of choice. Although children appear to tolerate single, high-dose ingestions well, the literature is replete with reports of significant morbidity and mortality after repeated supra-therapeutic dosing. Proposed risk factors for injury with chronic use include age, total dose, duration, presence of intercurrent febrile illness, starvation, co-administration of cytochrome P450-inducing drugs, underlying hepatic disease, and unique genetic makeup. Evaluation of these children should include serum acetaminophen concentration, prothrombin time, and serum bilirubin and transaminase concentrations. The Rumack-Mathew nomogram should not be used to estimate the risk of hepatotoxicity in cases of chronic ingestion. Based on history, clinical examination, and laboratory findings, patients may be placed in three categories: those without hepatic injury and with no residual acetaminophen to be metabolized, those without injury but with some acetaminophen to be metabolized, and those with hepatotoxicity. Those without injury and no residual acetaminophen need not be treated or followed. Patients with hepatotoxicity or potential for hepatotoxicity based on residual acetaminophen should be treated withN-acetylcysteine. Most importantly, because so many parents are unaware of the potential risk of inappropriate dosing, education is the key to preventing future cases.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

摘要:

The majority of all patients with poison exposures in the United States are children. The evaluation and management of poisoned patients may be aided by the use of laboratory assays, ranging from basic assessments not uniquely indicated for the poisoned patient to highly sophisticated laboratory tests with very specific indications. Literature concerning poisoning in pregnant patients is evaluated and recommendations regarding the utility of pregnancy testing in poisoned females are discussed. Recent studies evaluating the use of toxicology testing in pediatrics have concluded that the use of comprehensive toxicology screening in pediatric patients is costly and does not affect the medical management of most poisoned patients. The utility of focused quantitative serum assays to determine serum levels of particular poisons is reviewed. Toxicology tests used for detection of drugs of abuse, with a particular focus on the capabilities and limitations of such tests, are discussed. The potential pitfalls that occur when toxicology tests are obtained indiscriminately, are misapplied, or are misunderstood are analyzed. Hair sampling as nonemergent toxicology testing for drugs of abuse is discussed.

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID

ISSN:1040-8703    

出版商:OVID    

年代:2001

数据来源: OVID