Publications by authors named "Nicola Improda"

Childhood obesity is a growing global health concern, with established links to physical activity, nutrition, and, increasingly, to prenatal and perinatal factors. Emerging evidence highlights the significant role of maternal conditions such as obesity, comorbidities, nutrition, and environmental exposures in predisposing offspring to long-term metabolic and cardiovascular diseases. The "Developmental Origins of Health and Disease" (DOHaD) paradigm provides a framework for understanding how early life environmental exposures, particularly during the periconceptional, fetal, and neonatal periods, can program future health outcomes through epigenetic mechanisms.

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Introduction: Puberty suppression using gonadotropin-releasing hormone agonists (GnRHa) is a reversible medical intervention that halts endogenous puberty, allowing transgender and gender-diverse (TGD) adolescents to avoid the development of secondary sexual characteristics that may cause psychological distress. This pause in pubertal progression provides time to explore gender identity or facilitates alignment with affirmed gender in those with an established identity. While widely used, long-term evidence on the efficacy and safety of GnRHa in this population remains limited.

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We report on a 3-year and 5-month-old boy who was referred for suspected rickets, due to knee valgus deformity developed over the previous year. The child had a history of epilepsy well-controlled with phenobarbital. His psychomotor development and growth metrics were appropriate for his age.

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Background: Multiple genes can disrupt hypothalamic-pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype-phenotype correlations and variable inheritance patterns.

Objective: This study aimed to identify the MPHD genetics in three probands from two unrelated families.

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  • The study evaluated Friedewald's and Sampson's formulas for measuring LDL-Cholesterol (LDL-C) in overweight and obese youths aged 5-17 in Italy, involving a total of 1,694 participants from two centers.
  • Results indicated that both formulas were highly accurate in estimating LDL-C levels, with comparable sensitivity and specificity, though Friedewald's formula had a higher positive predictive value.
  • The authors concluded that calculated LDL-C is a practical tool for screening adolescents, particularly favoring Friedewald's formula due to its simplicity in clinical settings.
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  • Glucocorticoids (GCs) are widely used in treating various pediatric conditions, but long-term use can lead to adrenal insufficiency (GI-AI), which is often overlooked, especially with non-systemic formulations.
  • The review analyzes the impact of chronic GC treatments on the hypothalamic-pituitary-adrenal (HPA) axis and highlights the importance of carefully tapering off GCs to prevent life-threatening conditions like adrenal crisis (AC).
  • The findings stress the need for better understanding and management strategies for GI-AI in children, including monitoring cortisol levels and adjusting treatment to minimize risks associated with steroid withdrawal.
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  • Prader-Willi syndrome (PWS) is a genetic disorder caused by different problems on chromosome 15, affecting how some genes work.
  • People with PWS often feel super hungry all the time, can become very overweight, and may have other health and learning issues.
  • The review explores how different genetic causes of PWS can lead to specific health problems and looks for ways to improve diagnosis and treatments for those affected.
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  • - Perinatal asphyxia significantly contributes to neonatal death and health issues, with therapeutic hypothermia being the standard treatment that reduces mortality and major developmental disabilities.
  • - Endocrine-related problems, such as glucose and electrolyte imbalances or adrenal complications, can arise in infants experiencing perinatal asphyxia, potentially impacting their health outcomes.
  • - Clinicians need to recognize the potential endocrine complications in asphyxiated infants to implement effective screening and timely interventions for improving overall outcomes.
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  • Growth hormone deficiency (GHD) in children is linked to cardiovascular issues, which can improve with growth hormone (GH) treatment; however, research on this topic is limited.
  • A study involving 24 GHD children and 24 matched controls showed that GHD children had worse lipid profiles and higher body fat ratios, but these indicators improved significantly after one year of GH therapy.
  • The findings suggest that GHD children experience early signs of endothelial dysfunction and atherosclerosis, but GH treatment helps to reverse these conditions, showcasing the importance of addressing GHD promptly.
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Metabolic syndrome (MetS) is defined by a cluster of several cardio-metabolic risk factors, specifically visceral obesity, hypertension, dyslipidemia, and impaired glucose metabolism, which together increase risks of developing future cardiovascular disease (CVD) and type 2 diabetes mellitus (T2D). This article is a narrative review of the literature and a summary of the main observations, conclusions, and perspectives raised in the literature and the study projects of the Working Group of Childhood Obesity (WGChO) of the Italian Society of Paediatric Endocrinology and Diabetology (ISPED) on MetS in childhood obesity. Although there is an agreement on the distinctive features of MetS, no international diagnostic criteria in a pediatric population exist.

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Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, with consequences on long-term outcomes. We present a multicenter case series of nine children with DS associated with OPG, with the aim of providing relevant details about mortality and long-term sequelae.

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Background: Severe hypercalcemia is rare in newborns; even though often asymptomatic, it may have important sequelae. Hypophosphatemia can occur in infants experiencing intrauterine malnutrition, sepsis and early high-energy parenteral nutrition (PN) and can cause severe hypercalcemia through an unknown mechanism. Monitoring and supplementation of phosphate (PO4) and calcium (Ca) in the first week of life in preterm infants are still debated.

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Background: COVID-19 pandemic has markedly affected emergency care, due to sudden limitation of health care capacity by general practitioners (GP) and urgent need for infection control strategies. We evaluated the activity of the Emergency Department (ED) during the national lockdown (March 8-April 30), as well as the outcomes of our infection control strategy.

Results: Despite a reduction in access by one fifth, a proportion of febrile patients comparable to 2019 was seen (829/2492, 33.

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  • The study looked at how giving sex hormones before growth hormone tests helps doctors figure out if kids have growth hormone deficiency (GHD) or just a delay in growth and puberty (CDGP).
  • They examined 184 kids from hospitals in Italy and the UK and saw that kids with GHD did better in terms of growth compared to those with CDGP.
  • The findings suggest that using sex hormones before testing can help diagnose GHD better and that low-dose sex hormones can help kids with CDGP grow better.
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Subclinical hypothyroidism (SH) is biochemically defined as serum TSH levels above the upper limit of the reference range in the presence of normal free T4 (FT4) concentrations. While there is a general agreement to treat subjects with serum TSH levels above 10 mU/L, the management of mild form (TSH concentrations between 4.5 and 10 mU/L) is still a matter of debate.

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Background: Long-term consequences of mild subclinical hypothyroidism (SH) in children are still unclear, and the need for levothyroxine (L-T4) supplementation remains controversial. We designed a 2-year, case-control, prospective study of a cohort of children with SH to evaluate the effects of L-T4 therapy on neurocognitive outcome.

Methods: Thirty-four children, age 9.

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Increasing evidence indicates that adults with Congenital Adrenal Hyperplasia (CAH) may have a cluster of cardiovascular (CV) risk factors. In addition, ongoing research has highlighted that children and adolescents with CAH are also prone to developing unfavorable metabolic changes, such as obesity, hypertension, insulin resistance, and increased intima-media thickness, which places them at a higher risk of developing CV disease in adulthood. Moreover, CAH adolescents may exhibit subclinical left ventricular diastolic dysfunction and impaired exercise performance, with possible negative consequences on their quality of life.

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Context: Growth hormone deficiency (GHD) in children may be associated with early cardiovascular risk factors and alterations in left ventricular (LV) structure and function; data on cardiopulmonary functional capacity are lacking.

Objectives: Aim of the study was to evaluate the effect of GHD and growth hormone (GH) therapy on cardiopulmonary functional capacity, left and right cardiac structure and function, and body composition in children and adolescents.

Design: Prospective, case-control study.

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Purpose: To evaluate glucose homeostasis in children with growth hormone (GH) deficiency (GHD) receiving long-term replacement therapy.

Methods: We evaluated glucose, insulin, HOmeostasis Model Assessment (HOMA-IR), and HbA1c in 100 GHD children at diagnosis and during 5 years of therapy. One hundred healthy children comparable to patients were evaluated at baseline and after 1 and 5 years.

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Background: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare.

Case Series: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.

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Objective: Poor linear growth is one of the main concerns in children with congenital adrenal hyperplasia (CAH). We aimed to analyze factors affecting growth trajectory in children with classical CAH.

Methods: Clinical records of children followed from infancy up to the end of growth at two Italian tertiary referral hospitals were reviewed.

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In addition to promoting linear growth, GH plays a key role in the regulation of bone and muscle development and metabolism. Although GH deficiency is frequently listed among the causes of secondary osteoporosis in children, its impact on bone and muscle health and on fracture risk is still not completely established. Current data suggest that childhood-onset GH deficiency can affect bone and muscle mass and strength, with GH replacement therapy exerting beneficial effects.

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Article Synopsis
  • APECED is a rare disease caused by a problem in a gene called AIRE, which helps the immune system recognize what is "self" and what is "not self."
  • Even though APECED is caused by this one gene, it can show up in many different ways in people, making it hard to predict how it will affect someone.
  • Recent research has given us new information about how the immune system learns to tolerate our own body parts and has helped us understand more about how AIRE works and its role in APECED.
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Background: The p.R63W mutation in the hepatocyte nuclear factor-4 alpha (HNF4A) results in macrosomia and atypical Fanconi syndrome, in addition to hyperinsulinaemic hypoglycaemia (HI). We describe 2 infants carrying this mutation, presenting with additional features.

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