Expired ipecac syrup efficacy

A controlled prospective study to evaluate the efficacy of expired ipecac syrup was conducted at two regional poison control centers in New England. During a 6-month period, 200 study patients treated with expired ipecac syrup and 200 control patients treated with unexpired ipecac syrup were evaluated. There were no statistical differences between the control and study groups in patient characteristics (age and sex) and product characteristics (general class, emetic potential, pretreatment, previously opened bottles, and manufacturer). In both control and study groups, emesis occurred in 100% of cases with 90% of patients vomiting with the first dose. The mean time to emesis was 24.7 minutes and 24.8 minutes in the study and control groups, respectively. Expired preparations ranged from 1 month to greater than 4 years postexpiration, with the duration of expiration not altering the mean time to emesis. Mean time to emesis between the two groups was also not affected by manufacturer, pretreatment with milk, or whether the ipecac syrup bottle was previously opened. We conclude that expired ipecac syrup (up to 4 years postexpiration date) is an effective emetic.     

Nonemetic effects of ipecac syrup

The aftereffects of home-induced emesis with ipecac syrup were determined by telephone interviews of callers to a poison center. During the 12-week study, the presence of any symptoms at follow-up in 146 patients was compared with findings in 99 callers to the poison center who did not receive ipecac. Within four hours after ipecac-induced emesis, 33.6% had no symptoms and 17.1% experienced protracted emesis. In the ipecac-treated group the incidences of one formed stool (4.1%) and lethargy during a typical sleeping time (42.5%) were not significantly different from the incidences in patients not receiving ipecac syrup. The incidences of diarrhea (13.0%) and atypical lethargy (11.6%) were higher (P less than .025 and P less than .05, respectively) after ipecac-induced emesis than in patients not receiving ipecac syrup. There was no significant statistical association between the propensity of the ingested toxin to produce diarrhea or lethargy and the occurrence of diarrhea or atypical lethargy. Because ipecac-induced emesis can produce diarrhea and lethargy, these side effects should be noted and differentiated from normal conditions when ipecac syrup is administered.     

Maple syrup urine disease and cystathioninemia

We report of our experience a case of a patient with the classic type of Maple Syrup Urine Disease (MSUD) and the rare combination with a secondary Cystathioninemia. The screening of newborns in terms of looking for MSUD has been terminated in 1979 because the number of cases was too small. An 8 days old boy was admitted to our hospital in al lifethreatening state with unspecific neurological symptoms. We were able to diagnose the MSUD in 36 hours. Although we succeeded in decreasing the plasma leucin level by an exchange transfusion and a continuous arteriovenous hemofiltration over 3 days, the leucin level again increased to neurotoxic levels. Finally we managed the leveling by applying a high caloric parenteral and enteral intake. Also a substitution of valin and isoleucin was necessary. The goal of the long-term treatment with a life-long diet with fixed quantities of BCCAs is to adjusted the plasma leucin level to 100-700 mumol/l, the valin and isoleucin level to 200-300 mumol/l. In summary we want to point out, that the diagnosis for the MSUD should be done early enough, to start the successfull therapy, as described above, and to improve the prognosis.     

枫糖尿症研究进展

枫糖尿症是一种罕见的常染色体隐性遗传性支链氨基酸代谢病,以神经系统症状及尿液枫糖味为突出表现,血氨基酸分析可见亮氨酸为主的支链氨基酸水平显著升高,按临床表现分为5种临床表型,按受累基因不同分为4种基因型,该病的治疗主要包括急性代谢危象期治疗及慢性期饮食治疗,总体预后不佳.     

Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease

MSUD is a hereditary metabolic disorder that is characterized by impaired activity of the BCKADC. Liver transplantation has been approved as a treatment for some MSUD cases in which the control of BCAAs is insufficient. Although there have been several reports about DDLT for MSUD, few LDLT cases have been reported. Because either of parents who are heterozygote of this disease usually applies to be a candidate of donor in LDLT, the impairment of BCKADC activity of graft liver should be concerned. We performed LDLT for 10 month‐old girl with a left lateral segment graft from her father. BCKADC activities of the patient and her parents were measured using lysates of lymphocytes isolated from peripheral blood specimen before the transplant. As a consequence, the activity of BCKADC of father was not inferior to a normal range. The patient tolerated the operation well. Postoperative course was uneventful and mixed milk was started at 8th POD. The serum BCAAs levels have remained within normal range. It should be necessary to follow the physical growth and mental development of the recipient in the future.     

Thiamine response in maple syrup urine disease

We measured the biochemical response for four patients with maple syrup disease to pharmacologic doses of thiamine, and correlated their response to their branched chain alpha-ketoacid dehydrogenase activity. We observed a linear correlation between the concentrations of each plasma branched-chain amino acid and its corresponding ketoacid analogue. In addition, the renal tubular reabsorption of branched-chain amino and ketoacids was nearly complete within these physiologic concentrations. Three children responded to thiamine therapy with a reduction in concentration of plasma and urinary branched-chain amino and ketoacids. Each responder had at least 5% activity for branched chain alpha-ketoacid dehydrogenase in their mononuclear blood cells and in whole cell fibroblasts from cultured skin when compared to the activity in normal control cells. We propose that each child with maple syrup urine disease be assessed for their response to thiamine by quantifying the concentration of branched-chain amino acids in plasma before and after vitamin supplementation.     

The intermediate form of maple syrup disease

A severely retarded and tetraspastic child died at the age of four years upon a respiratory infection with acidosis, disturbances of serum electrolytes and lactic aciduria. Brain autopsy showed a spongy degeneration and led to suspect an inborn error of amino-acid metabolism. These findings corresponded with the results of computer-tomography and were supported by post mortem amino-acid analysis. An intermediate variant of leucinosis was detected in an younger sister at the age of five months after cerebral convulsions and opisthotonic posture. The activity of the branched chain ketoacid decarboxylase in fibroblasts was reduced to 3-4% of normal. A protein restricted diet allowed a nearly normal cerebral development and improvement of computer-tomographic results. The similarity of clinical and biochemical data in both children indicate that a maple syrup urine disease was most likely the underlying disease in the older sister. Later performed electron-microscopical examinations of the older sister indicate that spongy degeneration of the central nervous system in leucinoisis is caused by a spongy myelinopathy, which is different from the alterations found in Canavan's disease, what could be pointed out for the first time.     

Mild variant of maple syrup urine disease

Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quantity of keto acids was found in urine with a qualitative 2,4-dinitro-phenylhydrazin test and with quantitative estimation. When thiamine hydrochloride (100 mg/day) was administered orally for 7 days to the patient fed with the cow's milk formula containing 2.1 gm/dl milk protein, there was no improvement of the branched-chain amino acidemia. Urinary keto acids, however, showed a marked decrease 7 days after the administration of thiamine hydrochloride. An overnight fast for 13 h resulted in normoglycemia. There was found no difference of blood L-lencine level between both parents and normal infants to whom L-lencine was loaded. The relation between decarboxylase activity for keto acids of branched-chain amino acids and thiamine hydrochloride was studied clinically, in the present communication.     

Inherited iron overload disorders

Iron is an essential nutrient that is highly toxic in excess. Normal iron balance is maintained primarily by regulation of intestinal absorption of the metal from the diet. Iron overload generally results from a chronic increase in intestinal absorption. During the past 5 years, it has become apparent that there are at least eight inherited disorders of iron metabolism characterized by the toxic accumulation of iron. This review provides an update for pediatricians on the clinical features and pathogenesis of these disorders.