Publications by authors named "Toni Torresani"

Background: Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss.

Aim: To predict presence or absence of salt loss in newborn infants with CAH.

Methods: The first specimen of suspected CAH in samples sent from People's Democratic Republic of Laos (Lao PDR) was investigated for known mutations in CAH associated with salt loss.

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The possibility of measuring thyroid hormones from blood dried on filter paper opened the way to identifying neonates with congenital hypothyroidism (CH) already in the first days of life. Consequently the early initiation of adequate replacement therapy opened the way to an effective prevention of mental retardation. Timely and complete specimen collection, transport logistics, rapid analysis and communication of results are key points for the organization of a CH newborn screening program.

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Objective: The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH).

Evidence: A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence.

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Article Synopsis
  • The objective was to create guidelines for diagnosing and managing congenital hypothyroidism (CH).
  • A systematic literature search was done to gather evidence, which was then evaluated using the GRADE system, translating to recommendations based on the strength of the evidence and expert opinions.
  • Key recommendations include universal newborn screening, initial treatment with L-T4, careful monitoring, and ongoing assessments throughout an individual's life to improve patient outcomes and support research on CH.
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Background: From January 2011 onward, the Swiss newborn screening (NBS) program has included a test for cystic fibrosis (CF). In this study, we evaluate the first year of implementation of the CF-NBS program.

Methods: The CF-NBS program consists of testing in two steps: a heel prick sample is drawn (= Guthrie test) for measurement of immunoreactive trypsinogen (IRT) and for DNA screening.

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Background: Switzerland introduced newborn screening (NBS) for CF in 2011, using an IRT/DNA/IRT protocol. This paper describes the results of the first year and compares two versions of the protocol with different IRT cut-offs, particularly effects on recall rate, sensitivity and specificity.

Methods: IRT cut-offs were >45 ng/ml (99.

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Background: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, but there is no ideal protocol suitable for all countries. This retrospective study was conducted to evaluate whether the planned two step CF NBS with immunoreactive trypsinogen (IRT) and 7 CFTR mutations would have detected all clinically diagnosed children with CF in Switzerland.

Methods: IRT was measured using AutoDELFIA Neonatal IRT-Kit in stored NBS cards.

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Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuable information for the assessment of sensitivity and specificity of newborn screening for certain disorders. We have analyzed 92 pairs of dried blood samples taken pre- and one hour postprandially, respectively.

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There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits.

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We aim to determine long-term intellectual outcome of adolescents with early high-dose treated congenital hypothyroidism (CH). Sixty-three prospectively followed children with CH were assessed at age of 14 y with the Wechsler Intelligence Scale for Children-Revised and compared with 175 healthy controls. Median age at onset of treatment was 9 d (range 5-18 d) and median starting dose of levothyroxine (L-T4) was 14.

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Aims: Amniotic infection (AI) and preeclampsia (PE), which are commonly the reason for prematurity, inflict stress of different duration on immature fetuses. Whether chronic stress, as reflected by intrauterine growth retardation, influences the level of 17-OH progesterone (17-OHP), was not previously examined.

Methods: We analyzed 17-OHP and TSH levels during neonatal screenings in the first hours of life of 90 premature infants born between 25 and 33 weeks of gestation in infants with AI (n=37) or with PE (n=53).

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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.

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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.

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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.

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The purpose of neonatal screening is to find those that have a high risk for a disorder and therefore need further action for diagnosis and treatment. The separation of the high-risk and low-risk groups is typically achieved by establishing cut-off values for interpretation of the test result. The guidelines should preferably include both a low cut-off and a high cut-off value, with a grey zone between them.

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Article Synopsis
  • In developing countries, children face high risks of iodine deficiency disorders (IDD) and vitamin A deficiency (VAD), impacting thyroid function.
  • A study on Moroccan children showed that VAD severity correlates with increased thyroid size and hormone levels, indicating that VAD contributes to goiter risk and may affect hypothyroidism.
  • Supplementing with vitamin A significantly improved thyroid function and reduced goiter rates among treated children, suggesting that VA enhances the benefits of iodized salt in IDD and VAD-affected populations.
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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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