Maple Syrup Urine Disease in a newborn infant

Maple Syrup Urine Disease (MSUD) is a severe metabolic disorder secondary to an enzyme defect in the catabolic pathway of the branched chain amino acids: leucine, isoleucine and valine. Accumulation of these amino acids and derived from them alpha-keto-acids leads to encephalopathy and progressive degeneration of the nervous system in undiagnosed and hence untreated patients. Early diagnosis and elimination diet prevent complications and therefore create a possibility of both normal intellectual and physical progress. In consequence, in a few countries MSUD has been added to newborn screening programmes to create opportunity for early diagnosis especially in newborn infants before clinical symptoms are present. In the study the authors present a case report of a newborn infant with MSUD along with the current knowledge on MSUD diagnosis and treatment.     

A case of maple syrup urine disease misdiagnosed as Tetanus neonatorum on admission

A case of Maple Syrup Urine Disease (MSUD) is presented with clinical signs and symptoms on admission resembling neonatal tetanus. Diagnosis had to be differentiated between MSUD and other metabolic disorders and neonatal infections (especially neonatal tetanus because of severe opisthotonos) and generalized seizures of the patient. Early diagnosis of the MSUD patient is very important for effective therapy and better long-term prognosis as well as genetic counselling and prenatal diagnosis for future pregnancies.     

The diagnosis and management of MSUD in Saudi Arabia by using two different methods

Plasma amino acid concentrations were measured in Maple Syrup Urine Disease (MSUD) infants using reversed phase high performance liquid chromatography (HPLC). The technique involved an automated data acquisition system and phenylisothiocyanate (PITC) pre-column derivatization. During a period of three years more than 14 cases of MSUD have been confirmed in our hospital suggesting an alarmingly high rate of incidence of this disease in the Kingdom as compared to the West. We present here a simple and reliable method of quantitating the branched chain and other amino acid concentrations in plasma samples of children with metabolic disorders. In addition, we also present a fluorimetric COBAS based enzymatic method for the rapid semiquantitative measurement of branched chain amino acids for a disease in which a prompt initial diagnosis is essential.     

MAPLE SYRUP URINE DISEASE

An infant with Maple Syrup Urine Disease was treated from six weeks of age with a synthetic diet containing carefully restricted quantities of branched chain aminoacids. There was a marked immediate improvement. At twelve weeks, gross vitamin deficiency developed and was corrected. The patient is now more than four-and-a-half years old, and although in reasonable general health is quite severely retarded, both mentally and physically. The problems of diagnosis, the biochemical basis of dietary treatment and the laboratory requirements for control are discussed in relation to the 55 previously published cases.     

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.     

Advances in the diagnosis and treatment of maple syrup urine disease: experience in Galicia (Spain)

INTRODUCTION: Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder caused by an inherited deficiency of branched chain alpha-ketoacid dehydrogenase activity. Accumulation of the amino acids leucine, isoleucine, valine and alloisoleucine and their metabolic products in cells and biological fluids results in severe brain dysfunction. PATIENTS AND METHODS: We present three cases of MSUD diagnosed in Galicia since 2000, the year in which the Extended Newborn Screening Program by tandem mass spectrometry was started in this region. One of the patients was diagnosed on the basis of early clinical presentation and the others by neonatal screening. Enzymatic and molecular studies confirmed two classic cases of MSUD and an intermediate variant. We describe the clinical and biochemical details at confirmation of diagnosis and the long-term outcome of the three patients. Throughout follow-up, all the patients maintained adequate leucine levels, which were near the normal range (mean levels: 220, 177 and 252 micromol/L, respectively). Several moderate metabolic decompensations were observed but leucine levels only occasionally exceeded 1000 micromol/L (one day in two patients). IQ tests were performed in all patients and scores were within the normal range. In view of our results, we believe the following measures are essential to improve the prognosis of MSUD: inclusion of this disease in Expanded Neonatal Screening Programs with early samples (at 2-3 days of life); aggressive treatment in the initial phase and during acute decompensations; strict metabolic control to prevent crises, monitoring of branched-chain amino acids (dried blood spot sample), and maintenance of long term plasma leucine levels below 300 micromol/L.     

Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD

Maple syrup urine disease (MSUD) is an inherited deficiency of branched chain alpha-ketoacid dehydrogenase (BCKDH) activity impairing the degradation of the branched chain amino acids valine, leucine, and isoleucine. Classic MSUD may lead to severe neonatal encephalopathy including coma and impaired cognitive outcome in later life. Early start of dietary treatment and careful metabolic control may improve the outcome of patients with classic MSUD. The aim of this study was to investigate the impact of long-term metabolic control assessed by plasma leucine levels on cognitive outcome in patients with classic MSUD. Plasma leucine levels of 24 patients were obtained retrospectively for the first 6 y of life and yearly medians of mean plasma leucine levels were calculated. At the age of 6 y, IQ tests were performed. Yearly medians of mean plasma leucine levels yielded three homogeneous clusters (low, intermediate, high). Patients of the low cluster showed statistically significant higher IQ scores compared with those of those of intermediate and high clusters. Long-term plasma leucine levels are associated with impaired cognitive outcome in patients with classic MSUD. To achieve the best possible intellectual outcome for affected individuals, we recommend that in infants and preschool children the target range for plasma leucine should not exceed 200 micromol/L.     

Leucine kinetics during simultaneously administered insulin and dexamethasone in preterm infants with severe lung disease

The objective of this study was to determine whether insulin administration would prevent the well-documented catabolic effect of dexamethasone given to preterm infants with chronic lung disease. We studied leucine metabolism in 11 very-low-birth-weight infants before dexamethasone treatment and on d 2, 4, and 7 thereafter. During the first 4 d of dexamethasone, insulin was administered i.v. at a dose of 0.5 (n = 7) or 1.0 (n = 5) IU/kg/d. Leucine turnover was not significantly different between d 0 (337 +/- 41.3 micromol leucine/kg/h), d 2 (288 +/- 27.2 micromol leucine/kg/h), d 4 (302 +/- 22.1 micromol leucine/kg/h), and d 7 (321 +/- 21.2 micromol leucine/kg/h), and neither was leucine breakdown (272 +/- 21.9 micromol leucine/kg/h on d 0, 225 +/- 21.5 micromol leucine/kg/h on d 2, 231 +/- 21 micromol leucine/kg/h on d 4, and 242 +/- 17.6 micromol leucine/kg/h on d 7). Weight gain rates were significantly lower during the first week of dexamethasone treatment compared with the week before treatment or the second and third week. We conclude that during insulin and corticosteroid administration in very-low-birth-weight infants, no changes were observed in leucine kinetics in contrast to previous studies. The decrease in weight gain was not reversed.     

Oxidized LDL metabolites with high family risk for premature cardiovascular disease

OBJECTIVE: Considering the importance of primary prevention of Cardiovascular Disease (CVD) from childhood, especially in children with high family risk for premature atherosclerosis, and also the importance of oxidized LDL in the process of atherosclerosis, the main metabolites of ox-LDL i.e. Malondialdehyde (MDA) and Conjugated diene (CDE) have been measured in children of high risk families and compared with a control group. METHODS: Children and adolescents (6-18 years) of parents with premature myocardial infarction (MI < or = 55 y in men and < or = 65 y in women), were selected as the case group. The control group included neighbors of the case group matched for age and socioeconomic status. All samples have been selected by simple random sampling. Both the case and control groups were divided in two subgroups: those with a total cholesterol and/or LDL-C > or = 95th centile and those with normal lipid levels. Each subgroup consisted of 32 subjects, so 128 subjects were studied (64 in the case and 64 in the control group). MDA and CDE were measured by spectrophotometry using molar absorbivity. Data were analyzed by SPSSv10/Win software using ANOVA, Bonferroni, Scheffe-Duncan, Tukey-HSD, and the Student's t-test. RESULT: The mean MDA value in the case and control groups was significantly different (1.84 +/- 0.43 vs. 1.67 +/- 0.41 micromol/L, p=0.03), but this difference was not significant regarding the mean CDE level (0.50 +/- 0.05 vs. 0.47 +/- 0.04 micromol/L, p>0.05). The mean MDA level in the case group with hyperlipidemia was significantly higher than that in the case group without hyperlipidemia (1.985 +/- 0.516 vs. 1.690 +/- 0.366, micromol/L, P=0.02) and also higher than control group with or without hyperlipidemia (1.985 +/- 0.516 vs. 1.720 +/- 0.389, 1.615 +/- 0.429 micromol/L respectively, P<0.05). The mean CDE level in the case group with hyperlipidemia was significantly higher than the case group without hyperlipidemia (0.542 +/- 0.034 vs. 0.494 +/- 0.049 micromol/L, P=0.04) and higher than the control group with or without hyperlipidemia (0.542 +/- 0.034 vs. 0.464 +/- 0.051, 0.484 +/- 0.048 micromol/L respectively, p<0.05). In case boys with hyperlipidemia, the mean MDA (2.03 +/- 0.2 micromol/L) and the mean of CDE (0.56 +/- 0.04 micromol/L) was significantly higher than other subgroups (P<0.05). CONCLUSION: Considering the increased susceptibility of LDL to oxidation in children with high family risk for premature CVD, special attention should be paid to consumption of foods and seasoning containing antioxidants from childhood especially in high risk families.     

Glycogen storage disease type III with hypoketosis

A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequate lipolysis without ketogenesis was observed (total/free carnitine 34.5/20 micromol/L, free fatty acids 1620 micromol/L and beta-hydroxybutyrate 172 micromol/L). Result of MCT (medium-chain triglycerides) load test: basal hydroxybutyrate 29 micromol/L rose to 5748 micromol/L. Treatment with a fat-restricted diet supplemented with formula containing MCT was initiated and the patient presented a satisfactory initial evolution. Three months later, CK were 3000 IU/L. Muscle biopsy was diagnostic of glycogenosis. Enzymatic activity in skin fibroblasts was 0% for amylo-1,6-glucosidase. The diagnosis of glycogenosis type III was established. Echocardiography performed at that time showed non-obstructive ventricular hypertrophy. Until now hypoketosis during hypoglycemia has only been described in glycogenosis type I.     

动态持续十二指肠液检查鉴别诊断婴儿期持续性阻塞性黄疸

目的　评价动态持续十二指肠液检查鉴别诊断婴儿肝炎综合征 (Infantilehepatitissyndrome,IHS)与胆道闭锁 (Biliaryatresia,BA)的价值 ,寻求简单、快速、正确的鉴别诊断方法。方法应用婴儿十二指肠引流管和引流技术进行动态十二指肠液检查 ,观察十二指肠液颜色、定量测定十二指肠液胆红素值、γ 谷氨酰转肽酶 (γ GT)活性和胆汁酸定性或定量测定。结果　 5 6 1例婴儿持续性黄疸首次十二指肠液检查 ,在插管后 3～ 8min内获黄色液体 342例 ,持续引流 2 4h获黄色液体 2 1例 ,间接引流 4 8～ 72h获黄色液体 16例。十二指肠液呈淡黄色者 71例 ,十二指肠液呈微黄或白色者 111例 ,经治疗后再次对淡黄色和微黄或白色液体者 182例行十二指肠液检查 ,十二指肠液呈黄色者 91例 ,十二指肠液呈白色者 89例 ,呈微黄者 2例。十二指肠液呈黄色和淡黄色者胆红素定量≥ 8 5 μmol/L ,γ GT >2 0Iu/L ,胆汁酸阳性或定量为 33～ 2 6 0 μmol/L ,十二指肠液无色者胆红素值 0～ 2 μmol/L ,十二指肠液微黄者 2例 ,胆红素分别为 5 .8μmol/L ,胆汁酸阴性 ,γ GT 0～ 5Iu/L。以十二指肠液胆红素≥8 5 μmol/L ,胆汁酸阳性 ,γ GT >2 0Iu/L诊断为IHS 4 70例 ,经随访黄疸完全消退。以十二指肠液 <8 5μmol/L ,胆汁酸阴性 ,γ GT <2     

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3-hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.Abbreviation MSUD Maple syrup urine disease     

脐血胆红素预测新生儿黄疸的意义

目的研究脐带血胆红素水平预测足月健康新生儿后续黄疸程度的价值。方法523例足月健康新生儿,测定脐血胆红素、白蛋白水平,监测每日经皮胆红素值（TCB）。对时龄0—24hTCB≥18;-48hTCB≥21;-72hTCB≥25;〉72h≥25者,送检静脉血血清胆红素值（TSB）,考虑是否需要光疗。将新生儿按脐血胆红素水平分为〈30μmol／L;≥30μmoL／L;≥36μmol／L;≥42μmoL／L,共4组。比较4组新生儿TCB≥25、TSB〉205μmol／L、TSB〉257μmoL／L及需要光疗的发生率。对脐血胆红素水平预告新生儿黄疸进行分析。比较黄疸组新生儿和非黄疸组新生儿临床特征。结果脐血胆红素水平升高,各组新生儿TCB≥25、TSB〉205μmol／L、TSB〉257μmoL／L和需要光疗的发生率增加。脐血胆红素水平用于预测新生儿黄疸发生有统计学意义（P〈0．001）。黄疸组新生儿脐血胆红素值显著高于非黄疸组（t=10．96,P〈0．001）。而脐血清白蛋白值（t=2．38,P〉0．05）、妊娠周数（t=-0．90,P〉0．05）、出生体重（t=0．10,P〉0．05）比较,两组均无统计学差异。结论脐血胆红素水平用于预测足月健康新生儿后续黄疸的程度是一种有效的方法。     

Methotrexate levels and outcome in osteosarcoma

BACKGROUND: Peak serum concentrations of methotrexate (MTX) have been reported to correlate with outcome in osteosarcoma (OS). Modification of the MTX dose to achieve peak levels between 700 and 1,000 micromol/L has been recommended. The goal of the study was to assess whether there is a correlation between histologic necrosis of the tumor and/or prognosis with peak MTX serum concentration. PROCEDURE: Treatment included multi-agent adjuvant chemotherapy, including high-dose MTX (12 g/m2). Peak MTX levels were drawn following a 4-hr infusion. Histologic evaluation for percent necrosis was done at the time of definitive resection. RESULTS: The median peak MTX level (n = 52 patients) was 1,060 micromol/L (range: 410-4,700 micromol/L), with significant intra-patient and inter-patient variability. Fifty-eight percent of the levels were 1,000 micromol/L or higher. Response to pre-operative chemotherapy was: 18% Grade I necrosis, 35% Grade II, 31% Grade III, and 16% Grade IV. No significant association was found between the mean peak MTX levels and necrosis (P = 0.44). Event-free survival (EFS) for the 48 patients with non-metastatic disease at diagnosis was 76% at 4 years of follow-up, with no association between the mean peak MTX level and EFS (P = 0.24). CONCLUSIONS: The absence of a demonstrable correlation between peak MTX levels and histologic necrosis or EFS may suggest that most patients achieve therapeutic levels when MTX is given at a dose of 12 g/m(2). The significant degree of intra-patient variability in peak levels poses a dilemma for pharmacokinetic adjustment. Continued use of HD-MTX in all patients, rather than dose adapted therapy, may be justified.     

重度高胆红素血症新生儿苍白球磁共振成像特征及其临床意义

目的探讨苍白球MRI信号改变与高胆红素血症的严重程度及其相关因素关系,为胆红素脑病诊断与预后判定提供客观依据。方法36例高胆红素血症新生儿（TSB〉342μmoL／L）在生后[10±6（2～34）]d接受头部MRI检查。场强1．5～3．0Tesla,扫描序列为T1WI,T2WI和DWI。2名不知被检者病史的放射科医师分析MRI结果。结果首次MRI有20例苍白球T1WI呈对称性高信号。有苍白球信号改变组的TSB、B／A及UCB均显著高于无改变组[（605．28±89．19）μmoL／L vs．（438．19±67．89）μmoL／L,（1．08±0．18）vs．（0．77±0．16）,（555．49±92．3）μmoL／L vs．（412．01±54．8）μmoL／L,P=0．000],所有MRI-DWI均未见信号改变;TSB在342．0～427．5μmoL／L者9例,未见苍白球信号改变,427．5～513．0μmoL／L者7例,有改变者3例,超过525．0μmoL／L 20例,有改变者17例,黄疸程度与苍白球信号改变有密切关系（χ^2=15．000,P=0．000）;15例ABE苍白球T1WI均呈对称性的高信号（χ^2=17．601,P=0．000）,同时3例T2WI苍白球也呈对称性稍高信号（TSB分别为,745．3μmoL／L,735．7μmoL／L,707．6μmol/L）。7日内入院的25例中,16例苍白球有改变,平均入院时间显著晚于9例无改变者[（121．5±39．9）h vs．（68．9±35）h,P〈0．03]。6例接受了第2次MRI,其中3例ABE有2例苍白球信号转为T2WI高信号,临床均表现脑瘫,另1例苍白球信号正常,但有听力异常;余3例非ABE患儿,2例苍白球信号转为正常,1例两次均无苍白球信号异常,目前发育正常。结论MRI T1WI苍白球对称性高信号,与高胆红素血症的严重程度及暴露时间密切关系,是新生儿ABE的重要表现特征。T1WI高信号转变为T2WI高信号可能提示预后不良。     

Urinary nitric oxide in newborns with infections

BACKGROUND: Neonatal sepsis is a major problem in newborn nurseries because of the difficulty in early diagnosis and because of the high morbidity and mortality. The objective of the present study was to investigate whether urinary nitric oxide (NO) levels could be useful for the diagnosis of infected newborns. METHODS: Newborns with suspected infection according to previously defined criteria between ages of 1-7 days and 8-30 days were included as the study groups (p) to be compared with age-matched healthy controls (c). Urine NO levels were assayed by Sievers NOA based on chemiluminescence and expressed as corrected for urine creatinine. RESULTS: 20 newborns with suspected infection at 1-7 days of age (group 1p) were compared with 45 healthy age-matched newborns (group 1c). 16 newborns with suspected infection at 8-30 days of age (group 2p) were compared with 15 healthy age-matched newborns (group 2c). The groups were similar with regard to birth weight and gestational age; however, the urinary NO levels in newborns with suspected infection at 1-7 days of age (80.25+/-60.68 micromol/mg creatinine) were higher than in healthy newborns (25.45+/- 19.35 micromol/mg creatinine). Similarly, newborns with suspected infection at 8-30 days of age had higher urinary NO levels (81.78+/- 40.43 micromol/mg creatinine) than age-matched controls (36.99+/-24.58 micromol/mg creatinine; p < 0.05). The sensitivity of urinary NO levels to detect infection was 50% in both age groups, and the specificity was 95% for 1-7 days of age and 93% for 8-30 days of age. Groups 1p and 2p were similar with regard to NO production. Altogether 12 patients had culture-proven sepsis, 11 patients had clinical sepsis, and 13 patients had other infections. The NO levels were similar in patients with culture-proven and clinical sepsis and higher than in patients with other infections. No difference was observed among NO levels of patients with gram-positive and gram-negative sepsis. CONCLUSIONS: Urinary NO levels which are quick and easy to measure are higher in infected newborns as compared with controls, and although the specificity is good, the sensitivity of the test is low, necessitating the use of another marker in addition to NO.     

Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience

The results and the significance of neonatal mass-screening programmes for inborn errors of metabolism, conducted by the National Research Institute of Mother and Child (NRIMC), are discussed. As the first in Poland, in 1964, mass-screening for phenylketonuria (PKU) was introduced. The BIA-Guthrie test was used. Other Guthrie tests (GBIA) were applied in homocystinuria, tyrosinemia, histidinemia and leucinosis (Maple Syrup Urine Disease-MSUD). In the middle of the 60. the Beutler and Baluda test was introduced for galactosaemia, as well as the Efron urine test in infant screening for different inborn errors of metabolism. In the middle of the 70., neonatal mass-screening for cystic fibrosis (CF, mucoviscidosis) was started. Meconium tests and the sweat test with ion selective chloride electrode were used. Apart from inborn errors of metabolism, we also introduced a screening programme for neuroblastoma in which vaniline mandelic acid (VMA) in urine was estimated and for congenital hypothyroidism were TSH level was assessed. The results of screening are shown in the tables and in the figures. In our opinion the best clinical results are obtained with screening for congenital hypothyroidism and for PKU, since very early detection and treatment in these diseases prevents severe mental retardation. We therefore consider that both these screening programmes should be treated as obligatory examinations in all neonates. Taking into consideration the fact that there are different types of hyperhenylalaninemias, the principles of differential diagnosis are discussed. Molecular genetic investigations, carried out in the NRIMC Department of Genetics proved to be a very important procedure in the verification of diagnosis of different mutations. The authors also discuss the problem of dietary treatment duration in PKU. In our opinion the hypophenyloalanine diet regimen in girls, should not be discontinued during adolescence, since there is the problem of maternal PKU and the possibility of foetal damage. The results of our own investigations of maternal PKU are discussed. The significance of mass-screening for galactosemia is still under discussion. In our opinion, mass-screening for galactosemia is not useful and we have discontinued it. Selective screening has been started combined with molecular genetic studies in high risk families. In the future, we plan to prepare guidelines on the principles of diagnosis and treatment of galactosemia in children and women in the reproductive age. Mass-screening for cystic fibrosis is also still under discussion. The results of the early screening programmes were not satisfactory and the tests were discontinued. In 1998, after reorganisation of the whole system, CF screening, using tripsin-radioimmune assays, was started again. The new screening programme is combined with molecular genetic investigation of different mutations. It is still too early to assess the importance and success of this CF mass-screening programme. We decided to discontinue the screening for homocystinuria, histidinemia, tyrosinemia, leucinosis and for neuroblastoma, since these programmes did not comply with criteria of mass-screening. In 1997, major reorganisation of screening programmes for inborn errors of metabolism, at NRIMC, was undertaken. The Guthrie test for PKU was changed to a quantitative colorimetric method. The immuno-luminometric method is used for TSH estimation. The whole system is based on complete computer control of all the steps of screening, from blood sampling on filter paper until the final diagnosis. The advantages of this modern system of organisation of the screening programme are discussed.     

Lead poisoning and asthma: an examination of comorbidity

OBJECTIVES: To determine the comorbidity of lead poisoning and asthma in urban children, and to examine associated clinical factors. METHODS: One-hundred-one patients at an inner-city clinic with blood lead levels (BLLs) of 25 microg/dL or higher (> or =1.2 micromol/L) (BLL25 group) were randomly selected from a tracking lead database and matched on age, sex, and primary language to 101 randomly selected patients with a first BLL recorded in the database of lower than 5 microg/dL (<0.2 micromol/L) (BLL5 group) and no subsequent BLLs of 10 microg/dL or higher (> or =0.5 micromol/L). Medical records were reviewed to determine diagnosis or symptoms of asthma or wheezing at any visit, immunization status, and number of visits. Analyses for matched pairs were conducted. RESULTS: The BLL25 and BLL5 groups did not differ on age at diagnostic BLL (26.6 months vs 24.2 months), sex (54% male), or language (12% Spanish). The BLL25 and BLL5 groups had a similar number of subjects with a diagnosis of asthma (6% vs 11%; odds ratio, 0.5; 95% confidence interval, 0.2-1.6); 26% of BLL25 and 34% of BLL5 subjects had either a diagnosis or symptoms of asthma or wheezing (odds ratio, 0.7; 95% confidence interval, 0.4-1.3). Subjects with BLL25 were more likely to have delayed immunization and a first clinic visit when older than subjects with BLL5. CONCLUSIONS: There was no increased likelihood of asthma diagnosis or symptoms among young children with lead poisoning. Children with lead poisoning also had delayed medical care. These data may help guide interventions aimed at preventing or reducing the impact of lead poisoning and asthma.     

碳氧血红蛋白测定对新生儿黄疸诊断的价值

目的：探讨碳氧血红蛋白测定在新生儿黄疸诊断中的临床价值。方法：189例新生儿黄疸患儿(新生儿溶血病75例,感染52例,颅内出血32例,晚发母乳黄疸30例)及142例对照组患儿同步测定动脉化毛细血管血碳氧血红蛋白(COHb)和血清总胆红素(STB);溶血组予大剂量静脉免疫球蛋白治疗后测定COHb及STB,应用SAS6.12统计软件进行处理。结果：溶血组COHb及STB分别为(3.64±0.83)%,330.84±77.15μmol/L,显著高于对照组的(2.38±0.35)%和130.18±32.86μmol/L(P<0.01);颅内出血组COHb及STB分别为(2.48±0.53)%,184.15±29.35μmol/L,高于对照组的(2.24±0.32)%及112.11±17.45μmol/L(P<0.05);感染及母乳黄疸组STB分别为286.71±45.66μmol/L,299.15±44.14μmol/L,显著高于对照组146.23±31.26μmol/L及57.33±7.83μmol/L(P<0.01),而COHb为(2.36±0.50)%及(1.84±0.49)%与对照组(2.20±0.39)%及(1.67±0.43)%比较,差异无显著性(P>0.05)。溶血性高间胆组STB低于非溶血性高间胆组(P<0.01),而COHb显著高于后者(P<0.01)。溶血组大剂量静脉免疫球蛋白治疗前后COHb分别为(3.64±0.83)%及(2.68±0.51)%,STB分别为330.84±77.15μmol/L及230.18±42.96μmol/L,治疗前后比较差异有显著性(P<0.01)。结论：COHb测定可作为胆红素产量的指标,有助于新生儿黄疸病因诊断及指导治疗。     

Effect of two amino acid solutions on leucine turnover in preterm infants

OBJECTIVE: To assess the effect of two different parenteral amino acid mixtures, Trophamine and Primene, on leucine turnover in preterm infants. METHOD: Leucine kinetics were measured with [5,5,5 D3]leucine tracer in 15 infants receiving Trophamine (group 'T') (mean birth weight 1,263 g) and 22 who received Primene (group 'P') (mean birth weight 1,336 g) during two study periods, within a few hours after birth but before introduction of parenteral amino acid solution, and again at postnatal day 7. The rate of appearance of leucine was calculated from the enrichment of alpha-ketoisocaproic acid in plasma. RESULTS: There were no significant differences in leucine turnover within a few hours after birth in the two groups. In the infants who received Primene leucine turnover on day 7 was significantly lower than in those who received Trophamine (269 +/- 43 vs. 335 +/- 27, p < 0.05). Despite a higher intake of leucine in the Trophamine group (108 +/- 10 vs. 77 +/- 8 micromol.kg(-1).h(-1)), leucine released from proteins at day 7 was higher in this group compared to Primene (227 +/- 27 vs. 192 +/- 42 micromol.kg(-1).h(-1)). CONCLUSIONS: Primene administration results in lower leucine released from proteins, an estimate of protein breakdown, than Trophamine in preterm infants. Increases in whole body leucine turnover in response to administration of i.v. amino acids is influenced by the composition of the amino acid mixture. The factors responsible for this difference remain to be elucidated.