Biomedical subjects

Toni Torresani

Publications and source records attributed to Toni Torresani.

15 recordsLinked to original sources

PubMed2006

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

This study aimed to estimate the number of infants who died of unrecognized congenital adrenal hyperplasia (CAH) in Austria and the Czech Republic within the past 13 years, before the introduction of adequate neonatal screening. The study was based on retrospective analysis of neonatal screening cards of 242 infants who died suddenly between 7 days and 12 months of age and whose cause of death could not be identified. 17-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay and positive samples were subsequently genotyped. Three infants out of 242 may have had unrecognized CAH due to CYP21 (steroid 21-hydroxylase) gene defect. Their newborn 17-OHP levels and CYP21 genotypes were 706 nmol/l and del/conv//del/conv, 53 nmol/l and I2//I2, and 811 nmol/l and I2//Gln318stop, respectively. CAH due to CYP21 defect can lead to sudden unexpected death without prior symptoms typical for the condition. Hence, newborn screening would have prevented these deaths had it been available. In addition, we have shown that the I2 point mutation that is expected to lead to simple virilizing form may lead to a fatal outcome.

Adrenal Hyperplasia, Congenital↗

PubMed2006

Assessment of iodine status using dried blood spot thyroglobulin: development of reference material and establishment of an international reference range in iodine-sufficient children.

CONTEXT: Thyroglobulin (Tg) may be a valuable indicator of improving thyroid function in children after salt iodization. A recently developed Tg assay for use on dried whole blood spots (DBS) makes sampling practical, even in remote areas. OBJECTIVE: The study aim was to develop a reference standard for DBS-Tg, establish an international reference range for DBS-Tg in iodine-sufficient children, and test the standardized DBS-Tg assay in an intervention trial. DESIGN, PARTICIPANTS, AND INTERVENTIONS: Serum Tg reference material of the European Community Bureau of Reference (CRM-457) was adapted for DBS and its stability tested over 1 yr. DBS-Tg was determined in an international sample of 5- to 14-yr-old children (n = 700) who were euthyroid, anti-Tg antibody negative, and residing in areas of long-term iodine sufficiency. In a 10-month trial in iodine-deficient children, DBS-Tg and other indicators of iodine status were measured before and after introduction of iodized salt. RESULTS: Stability of the CRM-457 Tg reference standard on DBS over 1 yr of storage at -20 and -50 C was acceptable. In the international sample of children, the third and 97th percentiles of DBS-Tg were 4 and 40 microg/liter, respectively. In the intervention, before introduction of iodized salt, median DBS-Tg was 49 microg/liter, and more than two thirds of children had DBS-Tg values greater than 40 microg/liter. After 5 and 10 months of iodized salt use, median DBS-Tg decreased to 13 and 8 microg/liter, respectively, and only 7 and 3% of children, respectively, had values greater than 40 microg/liter. DBS-Tg correlated well at baseline and 5 months with urinary iodine and thyroid volume. CONCLUSIONS: The availability of reference material and an international reference range facilitates the use of DBS-Tg for monitoring of iodine nutrition in school-age children.

Adolescent↗

PubMed2005

Increasing the iodine concentration in the Swiss iodized salt program markedly improved iodine status in pregnant women and children: a 5-y prospective national study.

BACKGROUND: Many industrialized countries struggle to maintain adequate iodine intake because of changes in dietary habits and the food supply. In Switzerland, because of declining iodine intakes in children and pregnant women, the iodine concentration in table salt was increased from 15 to 20 mg/kg. OBJECTIVE: We evaluated Swiss iodine nutrition after the 1999 increase in the salt iodine concentration. DESIGN: In 1999 and 2004, a 3-stage probability proportionate-to-size cluster sampling was done to obtain a representative national sample of primary schoolchildren and pregnant women. Urine and household salt were collected for iodine measurement. The frequency of elevated thyrotropin concentrations found in the newborn screening program was evaluated before and after the increase. RESULTS: In 1999, median urinary iodine (UI) concentrations among children (n = 610) and pregnant women (n = 511) were 115 microg/L (range: 5-413 microg/L) and 138 microg/L (range: 5-1881 microg/L), respectively, which indicated marginal iodine status. In 2004, median UI concentrations among children (n = 386) and pregnant women (n = 279) were 141 microg/L (range: 0-516 microg/L) and 249 microg/L (range: 8-995 microg/L), respectively (P < 0.01). Newborn thyrotropin concentrations >5 mU/L decreased from 2.9% in 1992-1998 (n = 259 035) to 1.7% in 1999-2004 (n = 218 665) (P < 0.0001). CONCLUSIONS: A 25% increase in iodine concentration in iodized table salt markedly improved iodine status in Switzerland, which showed the value of monitoring and adjusting iodine concentrations in national salt programs. The frequency of newborn thyrotropin concentrations >5 mU/L appears to be a sensitive indicator of iodine nutrition during pregnancy.

Child↗

PubMed2004

Rapid relapse of thyroid dysfunction and goiter in school-age children after discontinuation of salt iodization.

BACKGROUND: In programs to control iodine deficiency disorders (IDD), sustainability is a major concern. IDD has recently recurred in countries where salt iodization programs have lapsed. OBJECTIVE: The objective of the study was to describe the evolution of thyroid dysfunction after the discontinuation of salt iodization in a cohort of children in an area of severe endemic goiter. DESIGN: Moroccan children (aged 6-16 y, n = 159) with severe IDD received iodized salt (IS) for 1 y. Because of practical and financial constraints, including a lack of infrastructure and electricity at the production site, salt iodization abruptly ceased. The children were followed for another 14 mo, and concentrations of urinary iodine, thyrotropin, total thyroxine, and thyroglobulin and thyroid volume were measured. RESULTS: Before iodization, median urinary iodine was 18 microg/L, 88% of children had elevated serum thyroglobulin concentrations, and 72% were goitrous. One year after the introduction of IS, median urinary iodine and thyroglobulin concentrations had normalized, mean thyroid volume had decreased by 34%, and median thyrotropin and mean total thyroxine concentrations were improved. Five months after the discontinuation of salt iodization, median urinary iodine had fallen to 20 microg/L. Fourteen months after the discontinuation of salt iodization, the rate of goiter was again similar to the rate before salt iodization; median thyrotropin and thyroglobulin concentrations were sharply higher than before the introduction of IS (P < 0.001); and the prevalence of hypothyroidism was 10%, compared with 3% before the introduction of IS (P < 0.001). CONCLUSIONS: In IDD-affected areas, cessation of salt iodization is associated with a rapid deterioration of thyroid function in school-age children. These findings underline the importance of sustainability in IDD control and the vulnerability of children to even short-term lapses in IS programs.

Adolescent↗

PubMed2004

Dual fortification of salt with iodine and micronized ferric pyrophosphate: a randomized, double-blind, controlled trial.

BACKGROUND: In many developing countries, children are at high risk for both goiter and anemia. In areas of subsistence farming in rural Africa, salt is one of the few regularly purchased food items and could be a good fortification vehicle for iodine and iron, provided that a stable yet bioavailable iron fortificant is used. OBJECTIVE: We tested the efficacy of salt dual-fortified with iodine and micronized ferric pyrophosphate for reducing the prevalence of iodine and iron deficiencies in children. DESIGN: In rural northern Morocco, we fortified local salt with 25 microg I (as potassium iodate)/g salt and 2 mg Fe (as micronized ferric pyrophosphate; mean particle size = 2.5 microm)/g salt. After storage and acceptability trials, we compared the efficacy of the dual-fortified salt (DFS) with that of iodized salt in a 10-mo, randomized, double-blind trial in iodine-deficient 6-15-y-old children (n = 158) with a high prevalence of anemia. RESULTS: After storage for 6 mo, there were no significant differences in iodine content or color lightness between the DFS and iodized salt. During the efficacy trial, the DFS provided approximately 18 mg Fe/d; iron absorption was estimated to be approximately 2%. After 10 mo of treatment in the DFS group, mean hemoglobin increased by 16 g/L (P < 0.01), iron status and body iron stores increased significantly (P < 0.01), and the prevalence of iron deficiency anemia decreased from 30% at baseline to 5% (P < 0.001). In both groups, urinary iodine (P < 0.001) and thyroid volume (P < 0.01) improved significantly from baseline. CONCLUSION: A DFS containing iodine and micronized ferric pyrophosphate can be an effective fortification strategy in rural Africa.

Adolescent↗

PubMed2004

The effects of vitamin A deficiency and vitamin A supplementation on thyroid function in goitrous children.

In developing countries, children are at high risk for both the iodine deficiency disorders (IDD) and vitamin A deficiency (VAD). The study aim was to determine the effects of VAD and vitamin A (VA) supplementation on thyroid function in an area of endemic goiter. In a double-blind, randomized, 10-month trial, Moroccan children with IDD and VAD (n = 138) were given iodized salt and either VA (200,000 IU) or placebo at 0 and 5 months. At 0, 5, and 10 months, measurements of VA status and thyroid function were made. At baseline, increasing VAD severity was a predictor of greater thyroid volume and higher concentrations of TSH and thyroglobulin (P < 0.001). In children with VAD, the odds ratio for goiter was 6.51 (95% confidence interval, 2.94, 14.41). VAD severity was also a strong predictor of higher concentrations of total T(4) (P < 0.001); the odds ratio for hypothyroidism in VAD was 0.06 (95% confidence interval, 0.03, 0.14). During the intervention, mean thyroglobulin, median TSH, and the goiter rate significantly decreased in the VA-treated group compared with those in the placebo group (P < 0.01). The findings indicate that VAD in severely IDD-affected children increases TSH stimulation and thyroid size and reduces the risk for hypothyroidism. This effect could be due to decreased VA-mediated suppression of the pituitary TSHbeta gene. In IDD- and VAD-affected children receiving iodized salt, concurrent VA supplementation improves iodine efficacy.

Adolescent↗

PubMed2003

Quality control requirements in neonatal screening.

UNLABELLED: One of the key tasks for the persons in charge of a neonatal screening laboratory is the control and maintenance of the quality of analytical results. The process of examining every day hundreds of blood spot samples obtained from newborn babies in order to divide the population of neonates into a low risk group and a high risk group, presents several challenges with respect to organisation, analytical accuracy and precision and effectiveness in the recall and treatment procedures. Quality in neonatal screening is not determined solely by the analytical performance of the laboratory; all the steps of the neonatal screening "system" contribute to the overall quality and performance. CONCLUSIONS: Programmes for the monitoring of the quality of neonatal screening have to be multidisciplinary and not restricted to the laboratory alone; not only analytical performance, but also the procedures used throughout the programme have to be monitored.

Humans↗

PubMed2003

Introduction of iodized salt to severely iodine-deficient children does not provoke thyroid autoimmunity: a one-year prospective trial in northern Morocco.

To determine if introduction of iodized salt induces thyroid autoimmunity in goitrous children, we conducted a prospective trial in iodine-deficient Moroccan schoolchildren (n = 323). Local salt was iodized at 25 microg iodine per gram of salt and distributed to households. Before introduction of iodized salt and at 10, 20, 40, and 52 weeks, we measured antithyroid peroxidase antibodies (TPO-Ab), antithyroglobulin antibodies (Tg-Ab), urinary iodine (UI), and thyroid hormones, and examined the thyroid using ultrasound. At baseline, median UI was 17 microg/L and the prevalence of goiter and hypothyroidism was 72% and 18%, respectively. Provision of iodized salt maintained median UI at 150-200 microg/L for the year (p < 0.0001). There was a significant increase in mean total thyroxine (T(4)) and a significant reduction in the prevalence of hypothyroidism (p < 0.001). There was a transient increase in the prevalence of detectable antibodies after introduction of iodized salt (p < 0.0001) with levels returning to baseline at 1 year. Only congruent with 1% of children had elevated TPO-Ab and none had elevated Tg-Ab over the course of the study, and no child with elevated TPO-Ab had abnormal thyrotropin (TSH) or T(4) concentrations. None developed clinical or ultrasonographic evidence of thyroid autoimmune disease and/or iodine-induced hypothyroidism or hyperthyroidism. Rapid introduction of iodized salt does not provoke significant thyroid autoimmunity in severely iodine-deficient children followed for 1 year.

Adolescent↗

PubMed2003

Dual fortification of salt with iodine and microencapsulated iron: a randomized, double-blind, controlled trial in Moroccan schoolchildren.

BACKGROUND: In many developing countries, children are at high risk of both goiter and iron deficiency anemia. OBJECTIVE: In a series of studies in northern Morocco, we developed and tested a dual-fortified salt (DFS) containing iodine and microencapsulated iron. DESIGN: To establish the DFS fortification concentration, we measured salt intake by 3-d weighed food records and estimated iron bioavailability from the local diet by using published algorithms. We then formulated a DFS containing 25 micro g iodine/g salt (as potassium iodide) and 1 mg iron/g salt (as ferrous sulfate hydrate encapsulated with partially hydrogenated vegetable oil). After storage and acceptability trials, we compared the efficacy of the DFS to that of iodized salt in a 9-mo, randomized, double-blind trial in iodine-deficient, 6-15-y-old children (n = 377). RESULTS: Mean salt intake in school-age children was 7-12 g/d, and estimated iron bioavailability from the local diet was 0.4-4.3%. After storage for 20 wk, the DFS and iodized salt were not significantly different in iodine content, and color stability was acceptable when the compounds were added to local meals. During the efficacy trial, urinary iodine concentrations and thyroid volumes improved significantly (P < 0.001 and < 0.05, respectively) from baseline in both groups. At 40 wk, mean hemoglobin concentrations in the DFS group had increased by 14 g/L (P < 0.01), and serum ferritin, transferrin receptor, and zinc protoporphyrin concentrations were significantly better (P < 0.05) in the DFS group than in the iodized salt group. The prevalence of iron deficiency anemia in the DFS group decreased from 35% at baseline to 8% at 40 wk (P < 0.001). CONCLUSION: A DFS containing iodine and encapsulated iron can be an effective fortification strategy.

Adolescent↗

PubMed2003

Development of a dried whole-blood spot thyroglobulin assay and its evaluation as an indicator of thyroid status in goitrous children receiving iodized salt.

BACKGROUND: Serum thyroglobulin appears to be a sensitive marker of thyroid dysfunction in endemic goiter. However, its value as an indicator of thyroid status in children after the introduction of iodized salt has not been tested. OBJECTIVE: The objective was to optimize and validate a thyroglobulin assay on dried whole blood spots and to evaluate thyroglobulin as an indicator of thyroid response to iodized salt. DESIGN: A standardized, commercially available, sandwich fluoroimmunometric serum thyroglobulin assay was adapted for use on blood spots and validated in Swiss children. In a 1-y prospective study in 377 goitrous Moroccan children aged 6-15 y, the assay was used to measure thyroglobulin before and after the introduction of iodized salt. Urinary iodine, thyroid volume, thyrotropin, and thyroxine were measured, and regression was done with thyroglobulin as the dependent variable. RESULTS: Correlation between the blood spot and serum assays was excellent (r = 0.98). The SD of the difference between the blood spot and serum assays was 3.8 micro g/L; the median CVs for the blood spot assay in controls and samples were 6.3% and 14.4%, respectively. Median thyroglobulin was 24.5 (range: 0-328.8) micro g/L at baseline and fell significantly after the introduction of iodized salt to 6.2 (0-83.1) and 4.4 (0-47.1) micro g/L at 5 and 12 mo, respectively (P < 0.0001). Regression of urinary iodine and thyroid volume on thyroglobulin was highly significant at baseline and at 5 mo (P < 0.001). CONCLUSION: Thyroglobulin, measured in dried whole blood spots, may be a valuable indicator of improving thyroid function in children after supplementation with iodized salt.

Adolescent↗

PubMed2003

Carbohydrate metabolism is not impaired after 3 years of growth hormone therapy in children with Prader-Willi syndrome.

BACKGROUND/AIM: In children with Prader-Labhart-Willi syndrome (PWS), the insulin secretion is reduced, despite obesity, being ascribed to the growth hormone (GH) deficiency of hypothalamic origin. Besides, an increased prevalence of diabetes mellitus was described in this syndrome. Hence, we addressed the questions of how body composition and insulin secretion are interrelated and what impact GH therapy has on the carbohydrate metabolism in PWS. METHODS: We measured weight, lean and fat mass (by dual-energy X-ray absorptiometry), triglycerides, HbA(1c), and fasting insulin and glucose levels in 17 children (age range 1.5-14.6 years) with PWS to examine whether the carbohydrate metabolism is altered during 36 months of therapy with 8 mg GH/m(2) body surface/week. In a subgroup of 8 children, the insulin secretion was longitudinally assayed during oral glucose tolerance at 0 and 12 months of therapy. RESULTS: Before therapy, the insulin secretion was lower and markedly delayed as compared with reference data and did not rise during therapy. The glucose tolerance was impaired in 2 of 12 children examined by oral glucose tolerance test before therapy and normalized during therapy. Fasting insulin and insulin resistance being normal at the beginning, significantly increased at 12 months and returned to initial levels at 36 months of GH therapy. Fasting glucose as well as HbA(1c) and triglyceride levels were always normal. The fat mass before GH therapy was increased (39.5%) and dropped into the upper normal range (28.3%) during 3 years of therapy, being correlated with fasting insulin concentration and indices of insulin sensitivity before and after 1 year of therapy. CONCLUSIONS: Children with PWS are characterized by an intact insulin sensitivity with a decrease and a delay of insulin secretion, regardless of moderate obesity or GH treatment. In the present setting, the carbohydrate metabolism is not impaired by GH therapy, but by the excessively increased fat mass.

Adolescent↗

PubMed2002

Treatment of iron deficiency in goitrous children improves the efficacy of iodized salt in Côte d'Ivoire.

BACKGROUND: In many developing countries, children are at high risk of both goiter and iron deficiency anemia. Iron deficiency adversely affects thyroid metabolism and may reduce the efficacy of iodine prophylaxis in areas of endemic goiter. OBJECTIVE: The aim of this study was to determine whether iron supplementation in goitrous, iron-deficient children would improve their response to iodized salt. DESIGN: We conducted a randomized, double-blind, placebo-controlled trial in 5-14-y-old children in Côte d'Ivoire. Goitrous, iron-deficient children (n = 166) consuming iodized salt (10-30 mg I/kg salt at the household level) were supplemented with either iron (60 mg Fe/d, 4 d/wk for 16 wk) or placebo. At 0, 1, 6, 12, and 20 wk, we measured hemoglobin, serum ferritin, serum transferrin receptor, whole-blood zinc protoporphyrin, thyrotropin, thyroxine, urinary iodine, and thyroid gland volume (by ultrasonography). RESULTS: Hemoglobin and iron status at 20 wk were significantly better after iron treatment than after placebo (P < 0.05). At 20 wk, the mean reduction in thyroid size in the iron-treated group was nearly twice that in the placebo group (x +/- SD percentage change in thyroid volume from baseline: -22.8 +/- 10.7% compared with -12.7 +/- 10.1%; P < 0.01). At 20 wk, goiter prevalence was 43% in the iron-treated group compared with 62% in the placebo group (P < 0.02). There were no significant differences between groups in whole-blood thyrotropin or serum thyroxine at baseline or during the intervention. CONCLUSIONS: Iron supplementation improves the efficacy of iodized salt in goitrous children with iron deficiency. A high prevalence of iron deficiency among children in areas of endemic goiter may reduce the effectiveness of iodine prophylaxis.

Adolescent↗

PubMed2002

Increased adrenal androgen levels in patients with Prader-Willi syndrome are associated with insulin, IGF-I, and leptin, but not with measures of obesity.

BACKGROUND/AIM: Since hyperandrogenism in simple obesity is assumed to arise from hyperinsulinism and/or increased insulin-like growth factor I (IGF-I) or leptin levels, we examined how in patients with Prader-Willi syndrome (PWS), the most frequent form of syndromal obesity, the accelerated adrenarche can be explained despite hypothalamic-pituitary insufficiency with low levels of insulin and IGF-I. METHODS: In 23 children with PWS and a mean age of 5.6 years, height, weight, fat mass, fasting insulin concentration, insulin resistance (by HOMA-R; see text), and leptin and IGF-I levels were determined to test whether they explain the variance of the levels of dehydroepiandrosterone (DHEA) and its sulfate (DHEAS), of androstenedione, and of cortisol before and during 42 months of therapy with growth hormone. RESULTS: The baseline DHEAS, DHEA, and androstenedione concentrations were increased as compared with age-related reference values, whereas the cortisol level was always normal. During growth hormone treatment, the DHEA concentration further rose, and the cortisol level decreased significantly. The insulin and IGF-I concentrations were low before therapy, while fat mass and leptin level were elevated. The hormonal covariates provided alone or together between 24 and 60% of the explanation for the variance of adrenal androgen levels, but the anthropometric variables did not correlate with them. CONCLUSIONS: In children with PWS, elevated androgen levels correlate with hormones that are usually associated with adiposity. However, the lack of direct correlations between disturbed body composition and androgen levels as well as the increased sensitivity to insulin and IGF-I are abnormalities specific to PWS, potentially caused by the underlying hypothalamic defect.

Adolescent↗

PubMed2002

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland.

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children's Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

17-alpha-Hydroxyprogesterone↗

PubMed2002

Addition of microencapsulated iron to iodized salt improves the efficacy of iodine in goitrous, iron-deficient children: a randomized, double-blind, controlled trial.

OBJECTIVE: In many developing countries, children are at high risk for both goiter and anemia. Iron (Fe) deficiency adversely effects thyroid metabolism and reduces efficacy of iodine prophylaxis in areas of endemic goiter. The study aim was to determine if co-fortification of iodized salt with Fe would improve efficacy of the iodine in goitrous children with a high prevalence of anemia. DESIGN AND METHODS: In a 9-month, randomized, double-blind trial, 6-15 year-old children (n=377) were given iodized salt (25 microg iodine/g salt) or dual-fortified salt with iodine (25 microg iodine/g salt) and Fe (1 mg Fe/g salt, as ferrous sulfate microencapsulated with partially hydrogenated vegetable oil). RESULTS: In the dual-fortified salt group, hemoglobin and Fe status improved significantly compared with the iodized salt group (P<0.05). At 40 weeks, the mean decrease in thyroid volume measured by ultrasound in the dual-fortified salt group (-38%) was twice that of the iodized salt group (-18%) (P<0.01). Compared with the iodized salt group, serum thyroxine was significantly increased (P<0.05) and the prevalence of hypothyroidism and goiter decreased (P<0.01) in the dual-fortified salt group. CONCLUSION: Addition of encapsulated Fe to iodized salt improves the efficacy of iodine in goitrous children with a high prevalence of anemia.

Adolescent↗