Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods.

[Clinical heterogeneity in fructose intolerance]. / Eterogeneità clinica nell'intolleranza al fruttosio.

We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive. All the patients had hepatomegaly. Laboratory findings were indicative of disturbed hepatic function. Hypoglycemia was found in only 3 out of 8 patients. The course was lethal in 2 patients; the 6 survivors are doing well following a fructose-free diet. The importance of practising paediatricians having the detailed nutritional history of the patient and precise knowledge of infant food formulae is stressed. The danger of using fructose continuing solutions for infusion therapy is pointed out. We also report a case of F-1,6-diphosphatase deficiency.

[Biosafety: scientific production in nursing]. / Biossegurança: a produção científica em enfermagem.

The aim of this study was to investigate thematic approach and methodological focuses used in researches about biosafety, as well as the qualification of the authors of papers published in Brazilian Nursing periodicals. The publications were classified according to the main subject, as follows: worker's health; patient's health; and environment. The results showed that in a 65 years period (1932-1997) a total of 224 studies about biosafety were published, 76 were articles and conferences; 148 scientific articles, monographs and thesis. There was a predominance of articles about worker's and patient's health. Most of the studies were descriptive researches and were published by nurses of the Southeast area of the country. The majority of the authors were teachers with a Master or Doctorate degree.

Paediatric reference values for urinary catecholamine metabolites evaluated by high performance liquid chromatography and electrochemical detection.

The majority of the published reference range data on catecholamines excretion by healthy children is incomplete and often contradictory (1). We assayed in the urines of 127 healthy children the values of the catecholamines (norepinephrine, epinephrine, dopamine) and their methylated metabolites (normetanephrine, metanephrine, 3-methoxytyramine) for the determination of paediatric reference ranges. Data were expressed as micrograms/24 h, mumol/24 h and mmol/mol creatinine. An isocratic HPLC procedure by ion-pair reversed phase chromatography on a C18 column, using a single mobile phase containing formic acid, acetonitrile, diethylamine and octane sulphonic acid (ion pairing agent), permitted the separate assay of the various fractions of total catecholamines. The relations between each biogenic amine and age were studied and reference values were determined as a function of age.

Amniotic fluid test for the diagnosis of neural tube defects.

Alpha-fetoprotein and acetylcholinesterase were assayed in 374 amniotic fluids from normal pregnancies, at 9-15 weeks of gestation. We have investigated the correlations with the gestational age and have established our cutoff levels for these biochemical markers. We also report the values, that we have obtained in two cases of neural tube defects (NTD) and in several chromosomal aberrations. For early prenatal diagnosis of NTD, we wide to point out the importance of the contemporary determination of the two analytes and of the ultrasonographic investigation and biometry.

First-trimester screening for Down syndrome using nuchal translucency measurement with free beta-hCG and PAPP-A between 10 and 13 weeks of pregnancy--the combined test.

In a population of 1467 women attending the 'G. Gaslini' Institute for antenatal care, we evaluated first-trimester risk screening for Down syndrome using the 'combined test' based on ultrasound measurement of nuchal translucency (NT), maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG, and maternal age. No clinical action was taken on these results. The gestational age, determined by scan measurement of crown rump length, ranged from 10 weeks to 13 weeks 6 days. The median maternal age was 31 years 8 months. There were 13 Down syndrome pregnancies. The risk of having an affected pregnancy was estimated from a multivariate Gaussian distribution, using commercially available software. With a risk cut-off of 1 in 350, 11 affected pregnancies were detected (detection rate 85 per cent, 95 per cent confidence interval: 56-100 per cent) with a 3.3 per cent false-positive rate. The odds of being affected given a positive result were 1 in 30. Further data are needed to determine, with greater statistical reliability, the relative performance of the combined test with current second-trimester screening.

[Cerebrospinal fluid metabolism of biogenic amines in Huntington chorea]. / Rilievi sul metabolismo liquorale delle amine biogene nella Corea di Huntington

CSF metabolites of dopamine (HVA), norepinephrine (MHPG) and serotonine (5HIAA) in 9 patients affected by Huntington's Chorea before and after therapy with phenotiazine derivatives (Fluphenazine) have been studied. A close relationship seems to exist between therapeutical results and CSF HVA modifications: improvement of choreatic movements is associated with marked increase in CSF HVA values. Biochemical bases of Huntington's Chorea are discussed.

[2,3 diphosphoglycerate in preterm newborns]. / 2,3 difosfoglicerato nel neonato pretermine.

BACKGROUND: It has been largely shown that during the first month of life, in the preterm neonate Hb levels and Hct percentages rapidly decrease, high HbF concentration persists and a high oxygen affinity occurs. Data are needed to establish the level at which 2,3 dyphosphoglycerate (2,3 DPG) interacts with the regulation of oxygen affinity. SUBJECTS AND METHODS: 24 samples, from eight uncomplicated preterm newborns (34.1 +/- 1.83 GW, 1869 +/- +/- 291 BW) obtained at the same time as those required for the clinical management of the infants, were collected on the 2nd, 7th and 14th day of life. Blood gases, total hemoglobin and hematocrit were obtained from 0.3 ml arterialised capillary blood. Assays of 2,3 DPG were made separately on 0.4 ml venous blood. RESULTS: As expected tHb concentration and Hct percentages significantly decreased from day 2 to day 14 in all eight cases. On the contrary 2,3 DPG and p50 values remained stable. Subsequently throughout the study period all neonates had an increased 2,3 DPG/Hb ratio that was significantly related with p50 at standard conditions (p < 0.05). CONCLUSIONS: Stable 2,3 DPG concentrations during all study period have been detected. The subsequent significant increased 2.3 DPG/Hb, ratio related to increased p50 values, could have a key role in a physiological mechanism aimed to ensure adequate oxygen delivery to the tissues and to counteract the higher oxygen affinity of fetal hemoglobin. A wider sample is needed to validate this hypothesis.