Acute pancreatitis in propionic acidaemia.
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Acute Disease↗
Biomedical subjects
F Zacchello
Publications and source records attributed to F Zacchello.
Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.
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Acyl-CoA Dehydrogenase↗
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program.
A patient with guanosine triphosphate cyclohydrolase I deficiency passed the newborn phenylketonuria screening program. The characteristic clinical phenotype developed in a 5-month-old patient; elevated plasma phenylalanine, undetectable urinary pterins, and absence of the enzyme activity in a liver biopsy were present. A point mutation that results in an amino acid substitution from methionine to isoleucine at position 211 was proposed to be the cause for this new phenotypic expression of guanosine triphosphate cyclohydrolase I deficiency.
Base Sequence↗
Factors limiting exercise performance in long-term survivors of bronchopulmonary dysplasia.
The long-term impairment of pulmonary function during exercise was assessed in 12 children, aged 6 to 12 yr, who developed BPD after prematurity (gestational age 30 +/- 2 wk [mean +/- SD] and birth weight 1,400 +/- 335 g) and 16 age-, sex-, and physical activity-matched healthy children born at term, who served as controls. The children performed pulmonary function tests at rest and a maximal stepwise exercise on a treadmill. Oxygen consumption (VO2), carbon dioxide output (VCO2), and minute ventilation (VE) were monitored during the run. Baseline mean spirometric values (% of predicted) were in the normal range for both groups but were lower in BPD children with respect to control children (p < 0.05). At rest, arterial oxygen saturation (SaO2) was > or = 98% in all BPD children, but at peak exercise, 4 of them had a SaO2 fall > or = 4%. The postexercise FEV1 fall, with respect to the baseline, was 8 +/- 6%, in BPD and 2 +/- 1% in control children (p < 0.01). Maximum VO2 and VE were significantly lower in BPD children with respect to the control group (25.2 +/- 10.3 versus 37.1 +/- 10.4 ml/min/kg and 20.8 +/- 9.4 versus 30.7 +/- 7.9 L/min, respectively, both p < 0.01). Also, at submaximal levels of exercise dynamic, VO2 and VE responses were significantly lower in the BPD group (ANOVA, p < 0.001), with a ventilatory pattern characterized by lower tidal volumes. Anaerobic threshold was 20.6 +/- 9 in BPD and 28.8 +/- 8.6 ml O2/min/kg in healthy children (p < 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)
Bronchopulmonary Dysplasia↗
Conversion of octanoic acid into long-chain saturated fatty acids in premature infants fed a formula containing medium-chain triglycerides.
A large number of very-low-birth weight infants are fed formulas containing medium-chain triglycerides (MCT) to enhance fat and calcium absorption. Studies are available on the intestinal absorption of MCT, which is nearly complete, but uncertainties exist on the metabolic fate of octanoic acid, the major component of MCT. Oxidation accounts for approximately 50% of the dietary intake, and losses as dicarboxylic acids in the urine are negligible. Since storage in adipose tissue is limited, conversion into long-chain fatty acids (LCFA) is likely to be an important route. To study the nonoxidative metabolism of MCT, six preterm infants fed a standard premature formula containing 38 weight% (wt%) MCT (54 mol% medium-chain fatty acids (MCFA), of which 35 mol% is octanoic acid) were studied at 4 weeks of age, when on full oral intake and receiving on average 130 kcal/kg/d. The study consisted of an oral primed constant-rate infusion of [13C]-octanoate and the measurement of the 13C enrichment of individual fatty acids in plasma triglycerides (TG) by a highly sensitive on-line combustion method using gas chromatography-isotope ratio mass spectrometry (GC-IRMS). We observed a significant incorporation of the dietary [13C]-octanoic acid in plasma TG (10.0% +/- 4.5% of the enrichment of the diet). A noticeable incorporation of the label was detected in myristic and palmitic acids (4.6% +/- 2.5% and 7.8% +/- 4.1% of the octanoic enrichment of the diet). The absolute amount of the fatty acids was studied with conventional GC, and the plasma TG fatty acid profile differed markedly from the diet.(ABSTRACT TRUNCATED AT 250 WORDS)
Caprylates↗
Antiretroviral activity of furocoumarins plus UVA light detected by a replication-defective retrovirus.
The replication defective retrovirus, pXM5(N2), was used for an easy, safe and reproducible test for the screening of furocoumarins with antiretroviral activity. High titer viral supernatants have been photomodified by UVA light (20 kJ m-2) in the presence of different concentrations of two psolarens (8-methoxypsoralen, 8-MOP and 4,5',8-trimethylpsoralen, TMP) and one angelicin (4,6,4'-trimethylangelicin, TMA). At low concentrations (100-250 ng ml-1) 8-MOP and TMA did not show any significant antiviral activity, while TMP demonstrated a reduction of virus infectivity by one log at 250 ng ml-1. At the highest concentration (5 micrograms ml-1), TMA and TMP reduced the virus titer by one and more than two logs, respectively, being, therefore, two and four times more active than 8-MOP. The most active compound, TMP, was further tested on HIV-1 viral supernatants. Total inactivation of the HIV-1 (200 SFU) was obtained in the presence of 1 microgram ml-1 of TMP and 20 kJ m-2 of UVA light. Our results support the validity of the N2 system to detect the antiretroviral activity of furocoumarins and suggest the potential of TMP in combination with UVA light against HIV-1.
3T3 Cells↗
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
We describe four Italian male infants with a novel clinical phenotype characterized by orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, progressive pyramidal signs, mental retardation, and brain magnetic resonance imaging abnormalities. The first symptoms appeared after the termination of breast-feeding and introduction of formula feeding. Marked persistent 2-ethylmalonic aciduria was associated with abnormal excretion of C4-C5(n-butyryl-, isobutyryl-, isovaleryl-, and 2-methylbutyryl-)acylglycines and acylcarnitines and with intermittent lactic acidosis. Short- and branched-chain plasma acylcarnitine levels were also elevated. 2-Ethylmalonic aciduria is generally regarded as being indicative of a defect in fatty acid oxidation. Extensive studies of cultured fibroblasts failed to reveal such a defect. The observation of intermittent urinary excretion of 2-ethylhydracrylic acid pointed to involvement of the isoleucine R pathway in ethylmalonate biosynthesis. This hypothesis was tentatively corroborated by the biochemical responses to an oral isoleucine challenge in two patients. However, fibroblast studies showed normal oxidation rates of (14C)isoleucine (ul), indicating that this is not a defect of isoleucine oxidation expressed in skin fibroblasts. In one of two patients tested, cytochrome c oxidase activity was partially reduced (45%) in cultured fibroblasts. This unique clinical and biochemical phenotype identifies a new metabolic encephalopathy of yet undetermined cause.
Acyl-CoA Dehydrogenase↗
Paediatric AIDS: a new child abuse.
In relation to youth rights, a new view has been created in recent decades that is included in the fundamental law of the child: the recognition of the right to education and the chance to develop a mature personality capable of creativity and liberty. Because of HIV infection it is very important to pay particular attention to the rights of the seropositive child and children born to seropositive mothers, which may be hampered not only in developing countries but also in the industrial world. HIV-affected children and their families are becoming abused and at high risk of becoming abused and this encroaches upon youth rights. As a consequence, in 1991 the Italian Society of Paediatrics issued a "Charter for the rights of seropositive children", which became an important document for all health care and social workers who deal with HIV-affected children. In this paper, we also consider the impact of HIV infection on the three main rights of children: the right to live, the rights of security and the rights of socialization.
Acquired Immunodeficiency Syndrome↗
Immunohistochemical distribution of endothelin in biopsies of pediatric nephrotic syndrome.
In a retrospective, double-blind study, we analyzed, utilizing an immunohistochemical technique, the distribution of Endothelin (Et) in 20 renal biopsies of 17 children with nephrotic syndrome (NS): 9 cases of steroid-responsive and 8 of steroid-resistant minimal-change disease (MCD) and 3 cases of focal segmental glomerulosclerosis (FSGS). Thirteen out of 20 biopsies (9/9 steroid-responsive MCD and 4/8 steroid-resistant MCD) showed a weak positivity of the vascular endothelial cells, as the normal renal tissue samples obtained from tumor nephrectomies. Seven out of 20 biopsies, all steroid-resistant NS, showed a marked positivity of the vascular endothelium and of the tubules and/or interstitial cells. In 4 of these 7 cases (1 MCD, 3 FSGS) a positivity of glomeruli was also revealed. The positivity of vascular endothelium seems to confirm its central role in Et production. The marked immunoreactivity detected in the endothelial cells and other renal components reveals a local increase in Et in some steroid-resistant MCD and, particularly, in FSGS. These preliminary observations suggest that Et may participate (cause or epiphenomenon) in the mechanisms underlying the development of glomerulosclerosis and the progression of renal damage.
Biopsy↗
Effect of beclomethasone dipropionate on bone mineral content assessed by X-ray densitometry in asthmatic children: a longitudinal evaluation.
There is little information on bone turnover in asthmatic children taking long-term treatment with inhaled steroids (ICS). The aim of this longitudinal study was to determine the effects of inhaled beclomethasone dipropionate (BDP) on bone mineral density (BMD), in asthmatic children treated over a period of six months. BMD and growth were studied in two age- and sex-matched groups of asthmatic children. These comprised: 14 asthmatic children (Group 1) who had taken BDP in a dosage of 300-400 micrograms daily through a 145 ml spacer device for at least 6 months (mean age 9.1 yrs); and a control group of 16 age- and sex-matched asthmatic patients (Group 2) not treated with ICS (mean age 9.5 yrs). Mean duration of asthma was 5.7 yrs in Group 1 and 5.5 yrs in Group 2. Vertebral BMD (L2-L4) was measured by dual energy X-ray absorptiometry (DEXA) at the beginning (baseline) of the study and 6 months later. There were no significant differences in the baseline bone mass (mean +/- SEM) between the two groups (0.63 +/- 0.03 and 0.64 +/- 0.02 g.cm-2 in Group 1 and 2, respectively). During the observation period, bone density increased, by 4% (95% confidence interval (95% CI) 2-6) in the control group and by 2.3% (95% CI 0.4-4.2) in the group under BDP treatment, showing no significant influence of the treatment. No difference was found in height velocity evaluated before starting BDP and after 6 months of therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
Absorptiometry, Photon↗
Effect of disodium cromoglycate on ventilation and gas exchange during exercise in asthmatic children with a postexertion FEV1 fall less than 15 percent.
The purpose of this study is to evaluate the effect of disodium cromoglycate (DSCG) on gas exchange and ventilation during incremental exercise in asthmatic children with an FEV1 fall less than 15 percent from the baseline after the exercise. Seventeen children (aged 8 to 14 years) with a history of mild to moderate asthma but no clinical and spirometric evidence of exercise-induced asthma (EIA) underwent two maximal exercise tests in a randomized order: test A without premidication and test B after inhalation of DSCG, 40 mg. To evaluate the effect of DSCG on normal airways, nine healthy children performed the same exercise protocol. Pulmonary function was normal at rest and after treadmill exercise test (the mean postexercise fall in FEV1 was 5.9 percent in test A and 1.5 percent in test B). Gas exchange, minute ventilation (VE) and heart rate (HR) were monitored during running in both tests. In the asthmatic subjects, there were no differences in oxygen uptake (VO2), carbon dioxide output (VCO2), and VE at rest between the two tests. During exercise, VE, VO2, VCO2, and energy cost (EC[O2 ml.kg-1.m-1]) of running in the asthmatic subjects were significantly lower in test B than in test A (analysis of variance, p < 0.01) for comparable work rates. Maximal minute ventilation (VEmax) was significantly higher in test A (46.9 +/- 14.6[+/- SD]L.min-1) than in test B (43.2 +/- 14 L. min-1; p < 0.05). We found no significant effect of DSCG on gas exchange and ventilation during exercise in the healthy children (VEmax 47.8 +/- 25 and 48.4 +/- 25 L.min-1 in test A and B, respectively). In conclusion, premedication with DSCG appears to decrease the ventilatory cost of exercise in asthmatic children who do not present a substantial fall in FEV1 after an exercise test without pretreatment.
Asthma↗
Enzymes of lysosomal origin in plasma of twin neonates.
The levels of some enzymes of lysosomal origin were assayed during days 2 and 5 of life in plasma from 11 sets of twin neonates and from 25 neonates from single pregnancies (13 of weight appropriate for gestational age and 12 small for their gestational age) as controls. The plasma enzyme levels were also determined in the correspondent twin and control mothers 2 days after delivery. N-Acetyl-beta-D-glucosaminidase isoenzymes were assayed after chromatofocusing separation. All the plasma enzyme levels were higher in the group of twin neonates and of their mothers than in the respective control groups with differences highly statistically significant for two enzymes, beta-D-galactosidase and alpha-D-glucosidase. In neonate plasma lysosomal enzymes are increased at the fifth day of life with respect to the second day. Full term control neonates showed the same enzyme trend. For the N-acetyl-beta-D-glucosaminidase the more significant differences concerned the isoenzyme I2-P (pregnancy). The pattern of the lysosomal enzymes in the twins resembled that of neonates of diabetic mothers who had had no insulin therapy. Since lysosomal enzymes are considered to be particularly sensitive indicators of carbohydrate metabolism abnormalities, we conclude that twin pregnancies are more at risk for these abnormalities than single ones.
Female↗
Rapid improvement of static compliance after surfactant treatment in preterm infants with respiratory distress syndrome.
Respiratory mechanics were measured in 20 preterm infants before and in the 24-hr period after treatment with surfactant. All infants were enrolled in the rescue clinical trial with Curosurf carried out in the Neonatal Intensive Care Unit. They received a dose of 200 mg/kg lipid surfactant intratracheally after birth. Static compliance of the respiratory system (Crs) was measured by the single breath occlusion technique during both spontaneous and mechanical ventilation. Resistance of the respiratory system (Rrs) and expiratory time constant (Trs) were also measured. As early as 3 hr after surfactant administration a significant improvement of 45% in Crs measured during mechanical ventilation (CrsV) was noted (0.40 +/- 0.14 vs 0.58 +/- 0.17 mL/cm H2O/kg, P < 0.001), together with a significant improvement of the arterial/alveolar O2 tension ratio (Pa/AO2) (0.12 +/- 0.03 vs 0.30 +/- 0.16, P < 0.01). The improvement of CrsV and Pa/AO2 was confirmed 24 hr later (0.55 +/- 0.15 mL/cm H2O/kg and 0.33 +/- 0.18, respectively). A significant correlation was found between Crs and Pa/AO2 ratio (r = 0.56, P < 0.001). Time constant values were significantly higher after surfactant treatment (0.15 +/- 0.07 vs 0.09 +/- 0.03 sec; P < 0.01). Rrs remained unchanged. These data indicate that Curosurf given intratracheally after birth determines a rapid improvement of respiratory mechanics as soon as 3 hr after dosing, together with the improvement of oxygenation. From the findings obtained with the present study we show evidence that respiratory system mechanics may be a useful physiological measure to guide ventilatory strategy following surfactant therapy.
Airway Resistance↗
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency.
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Acidosis, Lactic↗
A placebo-controlled crossover trial using trazodone in pediatric migraine.
An 8-month, double-blind, placebo-controlled cross-over trial was carried out on the use of trazodone in pediatric migraine prophylaxis. It involved 40 patients aged 7 to 18 years old and suffering from migraine without aura, randomly divided into 2 groups. After a 4-week run-in period, Group A received oral trazodone (1 mg/kg a day divided into 3 doses) for 12 weeks, while Group B received a placebo. After a further 4-week washout period, Group A was given the placebo and Group B was treated with trazodone for a further 12 weeks. The trial was completed by 35 patients, the number of drop-outs being comparable in the two groups. During the first treatment period, both the frequency and the duration of the migraine episodes were significantly reduced in both groups. During the second, a significant further improvement in both parameters was only observed in Group B. No side-effects were observed at any time. Our results showed that, like other antidepressants, trazodone is a valid prophylactic agent for juvenile migraine.
Adolescent↗
DNA HLA-DRB1 analysis in children of positive mothers and estimated risk of vertical HIV transmission.
RFLP HLA-DRB1 analysis was performed on a total of 83 children born from HIV-infected mothers, 35 of whom were shown to be HIV-infected, while 48 reverted from seropositivity to seronegativity, indicating that they were not infected. Moreover, 89 healthy children were used as controls. It has been found that DRB1-14a and DRB1-13a.4 alleles were not present in the HIV-infected children, but were found in the sero-reverted (HIV-uninfected) children (in the proportion of 9.6 per cent and 5.3 per cent, respectively), and in the controls (5.6 per cent and 3.9 per cent, respectively). The possible correlation between DR and risk of HIV transmission from mother to baby was analysed considering every single allele, estimated by the ratio between the number of infected children and the number of all children born from seropositive mothers. There was also introduced a statistic G for the control of 'statistical validity' of data.
Alleles↗
Respiratory mechanics in infants and young children before and after repair of left-to-right shunts.
In an attempt to investigate the relationship between respiratory mechanics and pulmonary hemodynamics, we evaluated pulmonary function in 31 infants with left-to-right shunts and subsequent high pulmonary blood flow, undergoing cardiac surgery. Measurements were performed 1 d before and repeated 10 d and 4-5 wk after correction. The age of the patients ranged from 4 d to 24 mo, body weight from 2.7 to 11.8 kg. Pulmonary artery pressure, assessed by Doppler echocardiography, was preoperatively elevated in 23 patients (group 1), whereas it was within normal values in eight infants (group 2). Respiratory mechanics were measured using the single-breath occlusion technique in sedated infants. To evaluate specific compliance, functional residual capacity was determined by using an open circuit nitrogen washout technique. A reduced preoperative compliance value (mean with 95% confidence interval) was found in group 1: 34.8 (26.5-43.1) mL.kPa-1. After hemodynamic correction, a progressive significant (p < 0.01) improvement was demonstrated at 10 d and 1 mo with values of 47.5 (39.2-55.8) mL.kPa-1 and 56.5 (45.6-67.4) mL.kPa-1, respectively. A similar trend was noted evaluating specific compliance with values of 0.27 (0.24-0.30) kPa-1 and 0.44 (0.42-0.46) kPa-1, respectively before and after surgery. Preoperative functional residual capacity value was 130 (100-160) mL. In group 2, normal preoperative compliance values were obtained, without significant changes after surgery. In both groups, resistance was within the normal range both before and after surgical correction, and functional residual capacity did not change either. No correlations were found between compliance and pulmonary artery pressure and pulmonary blood flow values.(ABSTRACT TRUNCATED AT 250 WORDS)
Child, Preschool↗
Applications of extracorporeal photochemotherapy in "non-oncological" diseases.
Photopheresis (ECP) is a new therapy for oncological and autoimmune diseases consisting in the reinfusion of 3-9 x 10(9) leukocytes, taken from the patient by leukapheresis, and treated in an extracorporeal system with 8-methoxypsoralen and ultraviolet light A. Nine patients affected by T cell immunomediated diseases (2 scleroderma, 1 chronic GVHD, 1 polyarteritis, 1 rheumatoid arthritis and 4 heart transplant patients with numerous episodes of acute rejection) were treated with ECP. Photopheresis was performed on 2 consecutive days every 3-4 weeks. All patients affected by autoimmune diseases experienced an improvement during treatment with ECP. In 2 of the 4 patients with heart transplant, rejection was reversed by photopheresis. No major side effects were observed during the treatment. In conclusion ECP is a safe and well tolerated therapy. Although the number of patients is small, ECP seems to be an effective modality in many diseases.
Adolescent↗