21 results on '"Iughetti, L"'
Search Results
2. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
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Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, null, null, Calcaterra, V, Tornese, G, Zuccotti, G, Staiano, A, Cherubini, V, Gaudino, R, Fazzi, E, Barbi, E, Chiarelli, F, Corsello, G, Esposito, S, Ferrara, P, Iughetti, L, Laforgia, N, Maghnie, M, Marseglia, G, Perilongo, G, Pettoello-Mantovani, M, Ruggieri, M, Russo, G, Salerno, M, Striano, P, Valerio, G, Wasniewska, M, Agosti, M, Agostoni, C, Aiuti, A, Azzari, C, Badolato, R, Balduzzi, A, Baraldi, E, Canani, R, Biffi, A, Biondi, A, Bisogno, G, Pierri, N, Carnielli, V, Cianfarani, S, Cogo, P, Corvaglia, L, Dani, C, Di Salvo, G, Fagioli, F, Fanos, V, Ferrero, G, Francavilla, R, Galli, L, Gazzolo, D, Giaquinto, C, Giordano, P, Gitto, E, Grosso, S, Guarino, A, Indrio, F, Lanari, M, Lionetti, P, Locatelli, F, Lombardo, F, Maffeis, C, Marino, B, Midulla, F, Del Giudice, E, Del Giudice, M, Montini, G, Parenti, G, Parisi, P, Peroni, D, Perrotta, S, Piacentini, G, Pietrobelli, A, Raimondi, F, Ramenghi, U, Ravelli, A, Romano, C, Rossi, F, Rossi, P, Damiano, V, Spalice, A, Suppiej, A, Troncone, R, Verrotti, A, Null, N, Calcaterra, Valeria, Tornese, Gianluca, Zuccotti, Gianvincenzo, Staiano, Annamaria, Cherubini, Valentino, Gaudino, Rossella, Fazzi, Elisa Maria, Barbi, Egidio, Chiarelli, Francesco, Corsello, Giovanni, Esposito, Susanna Maria Roberta, Ferrara, Pietro, Iughetti, Lorenzo, Laforgia, Nicola, Maghnie, Mohamad, Marseglia, Gianluigi, Perilongo, Giorgio, Pettoello-Mantovani, Massimo, Ruggieri, Martino, Russo, Giovanna, Salerno, Mariacarolina, Striano, Pasquale, Valerio, Giuliana, Wasniewska, Malgorzata, Agosti, Massimo, Agostoni, Carlo Virginio, Aiuti, Alessandro, Azzari, Chiara, Badolato, Raffaele, Balduzzi, Adriana, Baraldi, Eugenio, Canani, Roberto Berni, Biffi, Alessandra, Biondi, Andrea, Bisogno, Gianni, Pierri, Nicola Brunetti, Carnielli, Virginio, Cianfarani, Stefano, Cogo, Paola, Corvaglia, Luigi, Dani, Carlo, Di Salvo, Giovanni, Fagioli, Franca, Fanos, Vassilios, Ferrero, Giovanni Battista, Francavilla, Ruggiero, Galli, Luisa, Gazzolo, Diego, Giaquinto, Carlo, Giordano, Paola, Gitto, Eloisa, Grosso, Salvatore, Guarino, Alfredo, Indrio, Flavia, Lanari, Marcello, Lionetti, Paolo, Locatelli, Franco, Lombardo, Fortunato, Maffeis, Claudio, Marino, Bruno, Midulla, Fabio, Del Giudice, Emanuele Miraglia, Del Giudice, Michele Miraglia, Montini, Giovanni, Parenti, Giancarlo, Parisi, Pasquale, Peroni, Diego, Perrotta, Silverio, Piacentini, Giorgio, Pietrobelli, Angelo, Raimondi, Francesco, Ramenghi, Ugo, Ravelli, Angelo, Romano, Claudio, Rossi, Francesca, Rossi, Paolo, Damiano, Vincenzo Salpietro, Spalice, Alberto, Suppiej, Agnese, Troncone, Riccardo, Verrotti, Alberto, and null, null
- Abstract
Background In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD.Main body Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care.Conclusion Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents.
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- 2024
3. Recovery of chronic motor neuropathy due to acute intermittent porphyria after givosiran treatment in a young boy: a case report.
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MAZZOLI, M., RICCI, A., VAUDANO, A. E., MARCACCI, M., MARCHINI, S., BERGONZINI, P., DI PIERRO, E., PISCHIK, E., IUGHETTI, L., PIETRANGELO, A., MELETTI, S., and VENTURA, P.
- Abstract
BACKGROUND: We describe the first case of a pediatric patient with acute intermittent porphyria and severe chronic porphyric neuropathy treated with givosiran, a small-interfering RNA that drastically decreases delta-aminolevulinic acid production and reduces porphyric attacks' recurrence. CASE REPORT: A 12-year-old male patient with refractory acute intermittent porphyria and severe porphyric neuropathy was followed prospectively for 12 months after givosiran initiation (subcutaneous, 2.5 mg/kg monthly). Serial neurological, structural, and resting-state functional magnetic resonance imaging (MRI) evaluations were performed, including clinical scales and neurophysiological tests. Delta-aminolevulinic acid urinary levels dropped drastically during treatment. In parallel, all the administered neurological rating scales and neurophysiological assessments showed improvement in all domains. Moreover, an improvement in central motor conduction parameters and resting-state functional connectivity in the sensory-motor network was noticed. At the end of the follow-up, the patient could walk unaided after using a wheelchair for 5 years. CONCLUSIONS: A clear beneficial effect of givosiran was demonstrated in our patient with both clinical and peripheral nerve neurophysiologic outcome measures. Moreover, we first reported a potential role of givosiran in recovering central motor network impairment in acute intermittent porphyria (AIP), which was previously unknown. This study provides Class IV evidence that givosiran improves chronic porphyric neuropathy. [ABSTRACT FROM AUTHOR]
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- 2024
4. The assessment of urinary sexual hormones within minipuberty and correlations with anthropometrics in a cohort of healthy term children.
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Trevisani V, Palandri L, Righi B, Maione D, De Pasquale L, Tagliafico E, Grisolia C, Tagliazucchi M, Predieri B, Iughetti L, Righi E, and Lucaccioni L
- Abstract
Introduction: Minipuberty follows different trends in boys and girls. Aim of our study was to explore timing and dynamics of minipuberty in healthy infants, analyzing urinary levels of sexual hormones. Moreover, we analyzed the association among HPG axis activity and linear growth, ano-genital distances (AGDs) in both sexes, and penile length in males., Methods: Longitudinal cohort study in healthy term infants from birth to 6 months of life. Clinical evaluation (anthropometrics and AGDs) and urine sampling were performed at 0 (T0), 3 (T3), and 6 (T6) months. Urine samples were analyzed for gonadotropins and sex hormones., Results: 165 participants were involved. The growth trend of our population was regular, as were the AGDs. Urinary hormones were correlated each other's. Specifically, in boys, the correlation coefficient between urinary FSH (uFSH) and urinary LH (uLH) decreased from T0 to T6, while between urinary Testosterone (uT) and uFSH increased. In girls, correlations between uFSH and urinary Estradiol (uE) were observed at each time point. Notably, several correlations between hormones and anthropometrics and AGDs were found; the most interesting correlation was found in males within uLH and PL (at T0 ρ: 0.323, p < 0.05 and at T3 ρ: 0.371, p < 0.01), whereas in females uFSH at T0 showed negative correlations with both length and body weight percentile at T3 (ρ: -0.505, p < 0.01 and ρ: -0.478, p < 0.01, respectively)., Conclusion: Urinary matrix has proved to be a valuable, practical, non-invasive and cheaper method for sexual hormone assessment., (© 2024. The Author(s), under exclusive licence to Italian Society of Endocrinology (SIE).)
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- 2024
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5. Is there an increased number of community-acquired pneumonia requiring drainage placement in children after COVID-19 pandemic in Italy?
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Barchi L, Barbi E, Zamagni G, De Fanti A, Iughetti L, and Trombetta A
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- Humans, Italy epidemiology, Child, Male, Child, Preschool, Female, Adolescent, SARS-CoV-2, Infant, Pneumonia epidemiology, Pneumonia therapy, COVID-19 epidemiology, Community-Acquired Infections epidemiology, Drainage
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- 2024
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6. Can a Shorter Dwell Time Reduce Infective Complications Associated with the Use of Umbilical Catheters?
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Buttera M, Corso L, Casadei L, Valenza C, Sforza F, Candia F, Miselli F, Baraldi C, Lugli L, Berardi A, and Iughetti L
- Abstract
Background: Umbilical venous catheters (UVCs) are the standard of care in neonatal intensive care units (NICUs) to administer fluids, parenteral nutrition and medications, although complications may occur, including central line-associated blood stream infections (CLABSIs). However, the dwell time to reduce CLABSI risk remains an open issue., Methods: We performed a single-center retrospective study of newborns hospitalized in the Modena NICU with at least one UVC inserted over a 6-year period (period 1: January 2011-December 2013; period 2: January 2019-December 2021). We selected a non-consecutive 6-year period to emphasize the differences in UVC management practices that have occurred over time in our NICU. The UVC dwell time and catheter-related complications during the first 4 weeks of life were examined., Results: The UVC dwell time was shorter in period 2 (median 4 days vs. 5 days, p < 0.00001). Between the two periods, the incidence of CLABSIs remained unchanged ( p = 0.5425). However, in period 2, there was an increased need for peripherally inserted central catheters (PICCs) after UVC removal, with a rise in PICC infections after UVC removal ( p = 0.0239)., Conclusions: In our NICU, shortening UVC dwell time from 5 to 4 days did not decrease the UVC-related complications. Instead, the earlier removal of UVCs led to a higher number of PICCs inserted, possibly increasing the overall infectious risk.
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- 2024
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7. A rare cause of respiratory distress in preterm infants: a case report of acquired subglottic cysts.
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Barchi L, Russo G, Donvito S, Barbato G, Leo F, Iannella E, Ghidini A, Iughetti L, and Gargano G
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- Humans, Male, Infant, Newborn, Laryngeal Diseases diagnosis, Laryngeal Diseases etiology, Cysts complications, Cysts diagnosis, Respiratory Distress Syndrome, Newborn etiology, Respiratory Distress Syndrome, Newborn therapy, Respiratory Distress Syndrome, Newborn diagnosis, Infant, Premature
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Background: The Subglottic Cysts (SGCs) are a rare cause of respiratory distress in infants. Typical risk factors include male gender, extreme prematurity, gastro-oesophageal reflux and invasive ventilation, the latter being associated with mucosal damage and blockage of the subglottic cysts' ducts. We describe a case of acquired subglottic cysts in a premature infants presented with respiratory distress., Case Presentation: A premature male infant was born at 25 weeks + 2 days with a history of monochorionic diamniotic twin pregnancy with twin-to-twin transfusion syndrome. During hospitalization, invasive mechanical ventilation was necessary for a total of 18 days; the patient was discharged at postmenstrual age of 40 weeks + 1 day in good condition. At 43 weeks post-menstrual age, he presented to our department with mixed stridor and worsening of respiratory dynamics. A laryngotracheoscopy evaluation was performed. The exam showed the presence of multiple SGCs causing an almost complete obstruction of the airway. Because of the significant reduction of the airway's patency, the child underwent a tracheotomy and thereafter cysts' removal using cold steel microinstruments. A better airway patency was restored although a slight glottic edema persisted. The histopathology confirmed the benign nature of the lesions. Successive controls showed a completely patent airway and absence of SGCs., Conclusion: In conclusion, SGCs should be considered in preterm infants with respiratory distress previously intubated, which cannot be explained by the most common causes. Early diagnosis and treatment are fundamental to reducing the morbidity and mortality associated with this disease., (© 2024. The Author(s).)
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- 2024
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8. Cardiometabolic risk in children and adolescents with obesity: a position paper of the Italian Society for Pediatric Endocrinology and Diabetology.
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Valerio G, Di Bonito P, Calcaterra V, Cherubini V, Corica D, De Sanctis L, Di Sessa A, Faienza MF, Fornari E, Iughetti L, Licenziati MR, Manco M, Del Giudice EM, Morandi A, Salerno M, Street ME, Umano GR, Wasniewska M, and Maffeis C
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- Adolescent, Child, Female, Humans, Male, Cardiometabolic Risk Factors, Italy epidemiology, Risk Assessment, Risk Factors, Societies, Medical standards, Cardiovascular Diseases prevention & control, Cardiovascular Diseases epidemiology, Cardiovascular Diseases etiology, Pediatric Obesity complications, Pediatric Obesity epidemiology
- Abstract
Despite the implementation of preventive measures to counteract the obesity epidemics, the prevalence of childhood obesity is still alarming all over the world. Childhood obesity is the most common risk factor for both cardiovascular and metabolic diseases. In fact, an earlier onset of obesity can cause a greater risk of adiposity tracking across the lifespan and consequently a longer exposure to cardiometabolic risk factors. Accumulating evidence provided by prospective and intervention studies demonstrated the link between pediatric obesity and selected subclinical signs of cardiovascular damage (atherosclerosis and left ventricular hypertrophy), or fatal and not fatal cardiovascular events as early as 40 years of age.The numerous guidelines and scientific documents published in the last years demonstrate the relevance of assessing cardiometabolic risk factors in children and adolescents with OB.This Position paper, released by experts of the "Childhood Obesity study group" within the Italian Society for Pediatric Endocrinology and Diabetology, aims to review the assessment of cardiometabolic risk factors and comorbidities in children and adolescents with OW/OB on the light of the most recent scientific evidence.The main recommendations are: (a) early detection of comorbidities, including hypertension, dyslipidemia, prediabetes/type 2 diabetes, metabolic dysfunction-associated steatotic liver disease, polycystic ovary syndrome, inactivity, obstructive sleep apnea and decline in kidney function; (b) weight loss treatment, which is associated with a reduction of all cardiometabolic risk factors; (c) specific treatment of comorbidities, through lifestyle modifications or pharmacological treatment added to lifestyle for suitable individuals; d). monitoring comorbidities for mitigating future morbidity and mortality., (© 2024. The Author(s).)
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- 2024
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9. The Role of Nutrition on Thyroid Function.
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Shulhai AM, Rotondo R, Petraroli M, Patianna V, Predieri B, Iughetti L, Esposito S, and Street ME
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- Humans, Diet, Thyroid Diseases, Thyroid Hormones metabolism, Thyroid Gland physiology, Gastrointestinal Microbiome physiology, Nutritional Status, Micronutrients
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Thyroid function is closely linked to nutrition through the diet-gut-thyroid axis. This narrative review highlights the influence of nutritional components and micronutrients on thyroid development and function, as well as on the gut microbiota. Micronutrients such as iodine, selenium, iron, zinc, copper, magnesium, vitamin A, and vitamin B12 influence thyroid hormone synthesis and regulation throughout life. Dietary changes can alter the gut microbiota, leading not just to dysbiosis and micronutrient deficiency but also to changes in thyroid function through immunological regulation, nutrient absorption, and epigenetic changes. Nutritional imbalance can lead to thyroid dysfunction and/or disorders, such as hypothyroidism and hyperthyroidism, and possibly contribute to autoimmune thyroid diseases and thyroid cancer, yet controversial issues. Understanding these relationships is important to rationalize a balanced diet rich in essential micronutrients for maintaining thyroid health and preventing thyroid-related diseases. The synthetic comprehensive overview of current knowledge shows the importance of micronutrients and gut microbiota for thyroid function and uncovers potential gaps that require further investigation.
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- 2024
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10. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022.
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Puntoni M, Maglietta G, Caminiti C, Miniaci A, Lanari M, Caramelli F, Marchetti F, De Fanti A, Iughetti L, Biasucci G, Suppiej A, Miceli A, Ghizzi C, Vergine G, Aricò M, Stella M, and Esposito S
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- Humans, Italy epidemiology, Child, Female, Adolescent, Male, Child, Preschool, Infant, SARS-CoV-2, COVID-19 epidemiology, COVID-19 prevention & control, Interrupted Time Series Analysis, Emergency Service, Hospital statistics & numerical data
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Background: The use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important., Methods: This is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event. The 3 years preceding NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (SC) and a subsequent mitigation measures phase (MM) with milder restrictions. Interrupted Time Series (ITS) regression analysis was used to calculate PED Standardized Incidence Rate Ratios (SIRR) on the diagnostic categories exhibiting the greatest frequency and/or variation., Results: In the 60 months of the study there were 765,215 PED visits. Compared to the pre-pandemic rate, overall PED presentations dropped by 58 and 39% during SC and MM, respectively. "Symptoms, signs and Ill-defined conditions," "Injury and poisoning" and "Diseases of the Respiratory System" accounted for 74% of the reduction. A different pattern was instead seen for "Mental Disorders," which exhibited the smallest decrease during SC, and is the only category which rose already at the end of SC. ITS analysis confirmed the strong decrease during SC (level change, IRR 0.17, 95%CI 0.12-0.27) and a significant increase in MM (slope change, IRR 1.23, 95%CI 1.13-1.33), with the sharpest decline (-94%) and rise (+36%) observed in the "Diseases of the Respiratory System" category. Mental Disorders showed a significant increasing trend of 1% monthly over the whole study period exceeding pre-pandemic levels at the end of MM. Females and adolescents showed higher increasing rates both in SC and MM., Conclusion: NPIs appear to have influenced PED attendance in different ways according to diagnostic categories, mirroring different mechanisms of action. These effects are beneficial in some cases and harmful in others, and establishing a clear balance between pros and cons is a difficult task for public health decision makers. The role of NPIs on PED use appropriateness deserves investigation. The rise in pediatric mental disorders independent of the pandemic makes interventions addressing these issues urgent., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Puntoni, Maglietta, Caminiti, Miniaci, Lanari, Caramelli, Marchetti, De Fanti, Iughetti, Biasucci, Suppiej, Miceli, Ghizzi, Vergine, Aricò, Stella, Esposito and the Emilia-Romagna Paediatric COVID-19 network.)
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- 2024
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11. Adolescent with an abrupt onset of muscle pain and fever.
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Barberini R, Luglio A, De Fanti A, Iughetti L, and Trombetta A
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- Humans, Adolescent, Male, Diagnosis, Differential, Female, Fever etiology, Fever diagnosis, Myalgia etiology, Myalgia diagnosis
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Competing Interests: Competing interests: None declared.
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- 2024
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12. The impact of environmental factors and contaminants on thyroid function and disease from fetal to adult life: current evidence and future directions.
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Street ME, Shulhai AM, Petraroli M, Patianna V, Donini V, Giudice A, Gnocchi M, Masetti M, Montani AG, Rotondo R, Bernasconi S, Iughetti L, Esposito SM, and Predieri B
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- Humans, Adult, Endocrine Disruptors adverse effects, Female, Pregnancy, Thyroid Gland drug effects, Thyroid Diseases epidemiology, Thyroid Diseases chemically induced, Thyroid Diseases etiology, Environmental Exposure adverse effects, Environmental Pollutants toxicity, Environmental Pollutants adverse effects
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The thyroid gland regulates most of the physiological processes. Environmental factors, including climate change, pollution, nutritional changes, and exposure to chemicals, have been recognized to impact thyroid function and health. Thyroid disorders and cancer have increased in the last decade, the latter increasing by 1.1% annually, suggesting that environmental contaminants must play a role. This narrative review explores current knowledge on the relationships among environmental factors and thyroid gland anatomy and function, reporting recent data, mechanisms, and gaps through which environmental factors act. Global warming changes thyroid function, and living in both iodine-poor areas and volcanic regions can represent a threat to thyroid function and can favor cancers because of low iodine intake and exposure to heavy metals and radon. Areas with high nitrate and nitrite concentrations in water and soil also negatively affect thyroid function. Air pollution, particularly particulate matter in outdoor air, can worsen thyroid function and can be carcinogenic. Environmental exposure to endocrine-disrupting chemicals can alter thyroid function in many ways, as some chemicals can mimic and/or disrupt thyroid hormone synthesis, release, and action on target tissues, such as bisphenols, phthalates, perchlorate, and per- and poly-fluoroalkyl substances. When discussing diet and nutrition, there is recent evidence of microbiome-associated changes, and an elevated consumption of animal fat would be associated with an increased production of thyroid autoantibodies. There is some evidence of negative effects of microplastics. Finally, infectious diseases can significantly affect thyroid function; recently, lessons have been learned from the SARS-CoV-2 pandemic. Understanding how environmental factors and contaminants influence thyroid function is crucial for developing preventive strategies and policies to guarantee appropriate development and healthy metabolism in the new generations and for preventing thyroid disease and cancer in adults and the elderly. However, there are many gaps in understanding that warrant further research., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Street, Shulhai, Petraroli, Patianna, Donini, Giudice, Gnocchi, Masetti, Montani, Rotondo, Bernasconi, Iughetti, Esposito and Predieri.)
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- 2024
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13. Screening for sickle cell disease: focus on newborn investigations.
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Mosca A, Paleari R, Palazzi G, Pancaldi A, Iughetti L, Venturelli D, Rolla R, Pavanello E, Ceriotti F, Ammirabile M, Capri S, Piga A, and Ivaldi G
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- Humans, Infant, Newborn, Italy epidemiology, Anemia, Sickle Cell diagnosis, Anemia, Sickle Cell epidemiology, Anemia, Sickle Cell blood, Neonatal Screening methods
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Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is at most universal and mandatory. The essential laboratory issues are reviewed, from sampling aspects (cord blood or peripheral), to the analytical (analytical methods dedicated to neonatal screening and adult carrier detection) and post analytical (reporting, informative) ones. An economic analysis based on data collected in the province of Modena is also proposed, clearly showing that neonatal screening is also beneficial from an economic point of view., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)
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- 2024
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14. The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.
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Ciancia S, Madeo SF, Calabrese O, and Iughetti L
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The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their early recognition is a challenge for the pediatrician, who will be also involved in the follow-up of these children, often establishing a close relationship with them and their families and becoming a referral figure. In this review, we aim to provide the pediatrician with a general knowledge of the approach to treating a child with a genetic syndrome associated with dysmorphic features. We will discuss the red flags, the most common manifestations, the analytic collection of the family and personal medical history, and the signs that should alert the pediatrician during the physical examination. We will offer an overview of the physical malformations most commonly associated with genetic defects and the way to describe dysmorphic facial features. We will provide hints about some tools that can support the pediatrician in clinical practice and that also represent a useful educational resource, either online or through apps downloaded on a smartphone. Eventually, we will offer an overview of genetic testing, the ethical considerations, the consequences of incidental findings, and the main indications and limitations of the principal technologies.
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- 2024
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15. Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
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Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, and Delvecchio M
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- Humans, Endocrine System Diseases genetics, Phenotype, Prader-Willi Syndrome genetics, Genetic Association Studies
- Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Madeo, Zagaroli, Vandelli, Calcaterra, Crinò, De Sanctis, Faienza, Fintini, Guazzarotti, Licenziati, Mozzillo, Pajno, Scarano, Street, Wasniewska, Bocchini, Bucolo, Buganza, Chiarito, Corica, Di Candia, Francavilla, Fratangeli, Improda, Morabito, Mozzato, Rossi, Schiavariello, Farello, Iughetti, Salpietro, Salvatoni, Giordano, Grugni and Delvecchio.)
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- 2024
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16. Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric hospital admissions in North Italian hospitals, 2017 to 2022: a quasi-experimental study interrupted time-series analysis.
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Maglietta G, Puntoni M, Caminiti C, Pession A, Lanari M, Caramelli F, Marchetti F, De Fanti A, Iughetti L, Biasucci G, Suppiej A, Miceli A, Ghizzi C, Vergine G, Aricò M, Stella M, and Esposito S
- Subjects
- Humans, Italy epidemiology, Child, Adolescent, Child, Preschool, Female, Male, Physical Distancing, Hospitals, Pediatric statistics & numerical data, SARS-CoV-2, Communicable Disease Control, Infant, Quarantine statistics & numerical data, Schools, Controlled Before-After Studies, Pandemics, COVID-19 epidemiology, COVID-19 prevention & control, Interrupted Time Series Analysis, Hospitalization statistics & numerical data
- Abstract
Background: The use of Non-Pharmaceutical Interventions (NPIs), such as lockdowns, social distancing and school closures, against the COVID-19 epidemic is debated, particularly for the possible negative effects on vulnerable populations, including children and adolescents. This study therefore aimed to quantify the impact of NPIs on the trend of pediatric hospitalizations during 2 years of pandemic compared to the previous 3 years, also considering two pandemic phases according to the type of adopted NPIs., Methods: This is a multicenter, quasi-experimental before-after study conducted in 12 hospitals of the Emilia-Romagna Region, Northern Italy, with NPI implementation as the intervention event. The 3 years preceding the beginning of NPI implementation (in March 2020) constituted the pre-pandemic phase. The subsequent 2 years were further subdivided into a school closure phase (up to September 2020) and a subsequent mitigation measures phase with less stringent restrictions. School closure was chosen as delimitation as it particularly concerns young people. Interrupted Time Series (ITS) regression analysis was applied to calculate Hospitalization Rate Ratios (HRR) on the diagnostic categories exhibiting the greatest variation. ITS allows the estimation of changes attributable to an intervention, both in terms of immediate (level change) and sustained (slope change) effects, while accounting for pre-intervention secular trends., Results: Overall, in the 60 months of the study there were 84,368 cases. Compared to the pre-pandemic years, statistically significant 35 and 19% decreases in hospitalizations were observed during school closure and in the following mitigation measures phase, respectively. The greatest reduction was recorded for "Respiratory Diseases," whereas the "Mental Disorders" category exhibited a significant increase during mitigation measures. ITS analysis confirms a high reduction of level change during school closure for Respiratory Diseases (HRR 0.19, 95%CI 0.08-0.47) and a similar but smaller significant reduction when mitigation measures were enacted. Level change for Mental Disorders significantly decreased during school closure (HRR 0.50, 95%CI 0.30-0.82) but increased during mitigation measures by 28% (HRR 1.28, 95%CI 0.98-1.69)., Conclusion: Our findings provide information on the impact of COVID-19 NPIs which may inform public health policies in future health crises, plan effective control and preventative interventions and target resources where needed., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Maglietta, Puntoni, Caminiti, Pession, Lanari, Caramelli, Marchetti, De Fanti, Iughetti, Biasucci, Suppiej, Miceli, Ghizzi, Vergine, Aricò, Stella, Esposito and on behalf of Emilia-Romagna Paediatric COVID-19 network.)
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- 2024
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17. Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
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Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, Russo G, Salerno M, Striano P, Valerio G, and Wasniewska M
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- Humans, Child, Adolescent, Male, Female, Gender Identity, Italy, Adolescent Medicine, Gender Dysphoria therapy, Neuropsychiatry, Diabetes Mellitus
- Abstract
Background: In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD., Main Body: Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care., Conclusion: Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents., (© 2024. The Author(s).)
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- 2024
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18. Minipuberty in Male Full-term Neonates Appropriate and Small for Gestational Age and in Preterm Babies: Data from a Single Centre
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Boncompagni A, Pietrella E, Passini E, Grisolia C, Tagliazucchi M, Tagliafico E, Lugli L, Berardi A, Iughetti L, and Lucaccioni L
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- Infant, Newborn, Infant, Female, Male, Humans, Gestational Age, Longitudinal Studies, Birth Weight, Fetal Growth Retardation, Infant, Premature, Infant, Small for Gestational Age
- Abstract
Objective: The postnatal activation of the hypothalamic-pituitary-gonadal (HPG) axis is usually known as “minipuberty”. There are still open questions about its biological function and significance depending on sex, gestational age (GA) and birth weight (BW) with few available longitudinal data., Methods: A single-centre, longitudinal study to quantify urinary follicle stimulating hormone (uFSH), luteinizing hormone (uLH) and testosterone (uTs) in male neonates. Neonates were enrolled and stratified into three subgroups: full-term boys appropriate for GA (FT AGA); FT boys with BW ≤3rd centile [FT small for gestational age (SGA)]; and preterm (PT) boys ≤33 weeks of GA. Urinary hormones were correlated to simultaneous auxological parameters, linear growth and external genitalia at scheduled time-points., Results: Forty-six boys were recruited, with subgroup sizes FT AGA n=23, FT SGA n=11 and PT n=12. PT boys display a pulsatile pattern of urinary gonadotropins (uGns) with higher levels of uLH and a gradual increase of uTs. Testicular descent started from 29-32 weeks with the peak of uTs. During the first 12-months post-term age (PTA), FT AGA boys displayed a better linear growth (p<0.05). PT showed higher uGns levels until 3-months PTA. PT babies had higher uLH levels than FT AGA, with a peak at 7 and 30 days, during the first 90 days of life (p<0.001) and higher uTs levels. Correlation analysis between penile growth of all neonates and uTs was significant (p=0.04) but not within subgroups., Conclusion: This study investigated postnatal HPG axis activation in term and PT infants. Minipuberty may involve an early window of opportunity to evaluate the functionality of the HPG axis. Further studies with a long-term follow-up are needed with a special focus on possible consequences of GA and BW., Competing Interests: Conflict of interest: None declared., (©Copyright 2024 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)
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- 2024
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19. Neurodevelopmental outcome of neonatal seizures: A longitudinal study.
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Lugli L, Bariola MC, Guidotti I, Pugliese M, Roversi MF, Bedetti L, Della Casa Muttini E, Miselli F, Ori L, Lucaccioni L, Bertoncelli N, Rossi K, Crestani S, Bergonzini P, Iughetti L, Ferrari F, and Berardi A
- Subjects
- Humans, Male, Female, Infant, Newborn, Longitudinal Studies, Infant, Neurodevelopmental Disorders etiology, Risk Factors, Seizures etiology, Electroencephalography, Magnetic Resonance Imaging
- Abstract
Introduction: Neonatal seizures (NS) are the most common neurological emergency in the neonatal period. The International League Against Epilepsy (ILAE) proposed a new classification of NS based on semiology and highlighted the correlation between semiology and aetiology. However, neurodevelopmental outcomes have not been comprehensively evaluated based on this new classification., Aims: To evaluate neurodevelopmental outcomes and potential risk factors for severe outcomes in NS., Methods: Patients with video electroencephalogram confirmed NS were evaluated. Seizure aetiology, cerebral magnetic resonance imaging (MRI) data, background electroencephalograms data, general movements, and neurodevelopmental outcomes were analysed. Severe outcomes were one of the following: death, cerebral palsy, Griffiths developmental quotient <70, epilepsy, deafness, or blindness., Results: A total of 74 neonates were evaluated: 62 (83.8 %) with acute provoked NS (primarily hypoxic-ischaemic encephalopathy), and 12 (16.2 %) with neonatal-onset epilepsies (self-limited neonatal epilepsy, developmental and epileptic encephalopathy, cerebral malformations). Of these, 32 (43.2 %) had electrographic seizures, while 42 (56.7 %) had electroclinical seizures - 38 (90.5 %) were motor (42.1 % clonic) and 4 (9.5 %) were non-motor phenomena. Severe outcomes occurred in 33 of the 74 (44.6 %) participants. In multivariate analysis, neonatal-onset epilepsies (odds ratio [OR]: 1.3; 95 % confidence interval [CI]: 1.1-1.6), status epilepticus (OR: 5.4; 95 % CI: 1.5-19.9), and abnormal general movements (OR: 3.4; 95 % CI: 1.9-7.6) were associated with severe outcomes., Conclusions: At present, hypoxic-ischaemic encephalopathy remains the most frequent aetiology of NS. The prognosis of neonatal-onset epilepsies was worse than that of acute provoked NS, and status epilepticus was the most predictive factor for adverse outcomes., Competing Interests: Declaration of competing interest The Authors of the paper declare that there are no conflicts of interest., (© 2024 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)
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- 2024
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20. Investigating Eating Habits of Children Aged between 6 Months and 3 Years in the Provinces of Modena and Reggio Emilia: Is Our Kids' Diet Sustainable for Their and the Planet's Health?
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Palandri L, Rocca L, Scasserra MR, Vigezzi GP, Odone A, Iughetti L, Lucaccioni L, and Righi E
- Abstract
A healthy and balanced diet is crucial for children's well-being and aids in preventing diet-related illnesses. Furthermore, unhealthy dietary habits indirectly impact children's health, as the food industry stands as one of the primary drivers of climate change. Evidence shows the Mediterranean diet is sustainable for both children's and the planet's health. The aim of this cross-sectional study was to evaluate the eating habits of children aged between 6 months and 3 years, in the province of Modena and Reggio Emilia, in Italy, along with their adherence to the guidelines for a healthy diet, and examine the role of pediatricians in promoting knowledge about nutrition and sustainability. In our sample (218 children), most children exceeded the recommended meat and cheese intake, while consuming insufficient amounts of vegetables, fruit, and legumes. Vegetable and fruit consumption declined with the increase in age category while eating sweets, soft drinks, and processed food increased. Incorporating school meals' data into this analysis, we observed a modification in dietary compliance, characterized by an increase in meat and cheese consumption, alongside improvements in the intake of vegetables, fruits, fish, eggs, and legumes. This study suggests that supporting an integrated approach that combines social and educational initiatives is crucial. Future research should prioritize fostering sustainable eating habits within communities to facilitate dietary habits' transformation and encourage healthier lifestyles.
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- 2024
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21. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.
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Di Caprio A, Rossi C, Bertucci E, Bedetti L, Bertoncelli N, Miselli F, Corso L, Bondi C, Iughetti L, Berardi A, and Lugli L
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- Humans, Genotype, Phenotype, Frameshift Mutation, Histone Acetyltransferases genetics, Intellectual Disability genetics, Intellectual Disability diagnosis
- Abstract
Arboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease. Moreover, because of the wide and unspecific spectrum of ARTHS, identification of the syndrome during prenatal life rarely occurs. Therefore, reported cases of KAT6A syndrome have been identified primarily through clinical or research exome sequencing in a gene-centric approach. In order to expands the genotypic and phenotypic spectrum of ARTHS, we describe prenatal and postnatal findings in a patient with a novel frameshift KAT6A pathogenic variant, displaying a severe phenotype with previously unreported clinical features., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)
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- 2024
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