Publications by authors named "Diego Peroni"

170 Publications

Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.

Ann Am Thorac Soc 2021 Mar 24. Epub 2021 Mar 24.

Pisa University Hospital, 9257, Pediatrics, Pisa, Italy.

Rationale: Genotype-phenotype relationships are emerging in primary ciliary dyskinesia (PCD), but little is known about lung volume changes over time.

Objectives: To investigate evolution of static lung volumes with ultrastructural defects, gene mutations, BMI, and specific infections in PCD.

Methods: Prospective, longitudinal, single-center study in children and adults evaluated twice yearly for up to 10 years. Linear mixed effects models were used to assess associations between ciliary morphology, genetic mutations, and clinical features.

Results: 122 patients had 1096 visits. At enrollment, almost all spirometric and, especially in adults, plethysmographic parameters were significantly worse in absent inner dynein arms, central apparatus defects, and microtubular disorganization (IDA/CA/MTD) compared with Normal Electron Microscopy (EM) patients. Mean trend increase with time for residual volume (RV) was significantly higher in IDA/CA/MTD compared to outer dynein arms (ODA) defect and Normal EM groups. Mean trend of RV/total lung capacity (TLC) in IDA/CA/MTD was significantly worse than in all other groups. The steepest rise in lung volumes was in CCDC39/CCDC40, while hyperinflation increased less in DNAH5 and DNAH11 groups. RV/TLC showed a significantly steeper rise in patients with Pseudomonas aeruginosa compared to other infections, or without infection.

Conclusions: Patients with IDA/CA/MTD defects or CCDC39/CCDC40 mutations had the greatest increase in hyperinflation, while those with ODA defect and Normal EM or DNAH11 and DNAH5 mutations had less severe changes. We have robustly confirmed the worse prognosis for some genetic and ultrastructural defects, which association hitherto rested solely on spirometry.
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http://dx.doi.org/10.1513/AnnalsATS.202007-816OCDOI Listing
March 2021

The role of inflammatory mediators in epilepsy: Focus on developmental and epileptic encephalopathies and therapeutic implications.

Epilepsy Res 2021 Feb 18;172:106588. Epub 2021 Feb 18.

Pediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Viale Golgi 19, 27100 Pavia, Italy.

In recent years, there has been an increasing interest in the potential involvement of neuroinflammation in the pathogenesis of epilepsy. Specifically, the role of innate immunity (that includes cytokines and chemokines) has been extensively investigated either in animal models of epilepsy and in clinical settings. Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of epileptic disorders, in which uncontrolled epileptic activity results in cognitive, motor and behavioral impairment. By definition, epilepsy in DEE is poorly controlled by common antiepileptic drugs but may respond to alternative treatments, including steroids and immunomodulatory drugs. In this review, we will focus on how cytokines and chemokines play a role in the pathogenesis of DEE and why expanding our knowledge about the role of neuroinflammation in DEE may be crucial to develop new and effective targeted therapeutic strategies to prevent seizure recurrence and developmental regression.
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http://dx.doi.org/10.1016/j.eplepsyres.2021.106588DOI Listing
February 2021

Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review.

Sex Dev 2021 Mar 10:1-6. Epub 2021 Mar 10.

Division of Pediatrics, Department of Obstetrics, Gynecology and Paediatrics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy,

A 14-year-old boy with a 46,XY karyotype and persistent breast-3-stage gynecomastia is reported. The reproductive axis was investigated by standard laboratory methods and the androgen receptor (AR) gene was sequenced. Also, a literature review of phenotypes associated with the AR genetic variant p.Pro392Ser was performed. The boy presented with height in the upper normal range (+1.9 SDS) and normal body mass index (-0,3 SDS); pubertal development was PH5/G4 (mean testicular volume 15 mL; 0 SDS). Laboratory findings were normal for age and sex, except aromatization index (0.09; reference range 0.03-0.07). Analysis of the AR gene showed the single nucleotide variant c.1174C>T (p.Pro392Ser) in exon 1, leading to the diagnosis of minimal androgen insensitivity syndrome (AIS). This genetic variant is reported in other 8 patients with AIS and is associated with variable clinical phenotypes ranging from complete to partial and minimal AIS. To the best of our knowledge, this is the first adolescent in whom the p.Pro392Ser mutation is associated with isolated persistent gynecomastia. The underlying reason of phenotypic variability due to this AR mutation remains unknown. Persistent gynecomastia due to minimal AIS has been reported in few additional males with variable AR mutations. Since fertility troubles may occur in adult men with minimal AIS, early diagnosis can allow optimizing the clinical management.
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http://dx.doi.org/10.1159/000514067DOI Listing
March 2021

Cetirizine modifies quality of life and symptoms in children with seasonal allergic rhinitis: a pilot study.

Acta Biomed 2020 06 17;92(1):e2021003. Epub 2020 Jun 17.

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Background and aim Seasonal allergic rhinitis (SAR) is a common disease in childhood that is characterized by bothersome symptoms and impaired quality of life (QoL). As histamine is the pivotal pathogenic mediator in SAR, antihistamines are the first-line option in the treatment. Cetirizine is a well-known effective antihistamine. This real-life pilot study aimed to investigate the effectiveness of a 4-week continuous cetirizine treatment in a group of Italian children with SAR. Methods Total symptom score (TSS) and the Pediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ) were assessed at baseline and the end of the treatment. Results Cetirizine significantly improved QoL (in all domains) and symptom severity (p<0.001 for both). Conclusions The present preliminary study showed that a 4-week cetirizine treatment was able to improve QoL significantly. Cetirizine treatment also significantly reduced symptom severity in Italian children with SAR and was safe.
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http://dx.doi.org/10.23750/abm.v92i1.9948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7975941PMC
June 2020

When a Neonate Is Born, So Is a Microbiota.

Life (Basel) 2021 Feb 16;11(2). Epub 2021 Feb 16.

Clinical and Experimental Medicine Department, Section of Pediatrics, University of Pisa, Via Roma, 55, 56126 Pisa PI, Italy.

In recent years, the role of human microbiota as a short- and long-term health promoter and modulator has been affirmed and progressively strengthened. In the course of one's life, each subject is colonized by a great number of bacteria, which constitute its specific and individual microbiota. Human bacterial colonization starts during fetal life, in opposition to the previous paradigm of the "sterile womb". Placenta, amniotic fluid, cord blood and fetal tissues each have their own specific microbiota, influenced by maternal health and habits and having a decisive influence on pregnancy outcome and offspring outcome. The maternal microbiota, especially that colonizing the genital system, starts to influence the outcome of pregnancy already before conception, modulating fertility and the success rate of fertilization, even in the case of assisted reproduction techniques. During the perinatal period, neonatal microbiota seems influenced by delivery mode, drug administration and many other conditions. Special attention must be reserved for early neonatal nutrition, because breastfeeding allows the transmission of a specific and unique lactobiome able to modulate and positively affect the neonatal gut microbiota. Our narrative review aims to investigate the currently identified pre- and peri-natal factors influencing neonatal microbiota, before conception, during pregnancy, pre- and post-delivery, since the early microbiota influences the whole life of each subject.
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http://dx.doi.org/10.3390/life11020148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920069PMC
February 2021

Acute cough in children and adolescents: A systematic review and a practical algorithm by the Italian Society of Pediatric Allergy and Immunology.

Allergol Immunopathol (Madr) 2021 1;49(2):155-169. Epub 2021 Mar 1.

Allergy Clinic, Casa di Cura Villa Montallegro, Genoa, Italy;

The current systematic review presented and discussed the most recent studies on acute cough in pediatric age. After that, the Italian Society of Pediatric Allergy and Immunology elaborated a comprehensive algorithm to guide the primary care approach to pediatric patients, such as infants, children, and adolescents, with acute cough. An acute cough is usually consequent to upper respiratory tract infections and is self-resolving within a few weeks. However, an acute cough may be bothersome, and therefore remedies are requested, mainly by the parents. An acute cough may significantly affect the quality of life of patients and their family.Several algorithms for the management of acute cough have been adopted and validated in clinical practice; however, unlike the latter, we developed an algorithm focused on pediatric age, and, also, in accordance to the Italian National Health System, which regularly follows the child from birth to all lifelong. Based on our findings, infants from 6 months, children, and adolescents with acute cough without cough pointers can be safely managed using well-known medications, preferably non-sedative agents, such as levodropropizine and/or natural compounds, including honey, glycerol, and herb-derived components.
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http://dx.doi.org/10.15586/aei.v49i2.45DOI Listing
March 2021

Chronic cough in childhood: A systematic review for practical guidance by the Italian Society of Pediatric Allergy and Immunology.

Allergol Immunopathol (Madr) 2021 1;49(2):133-154. Epub 2021 Mar 1.

Allergy Clinic, Casa di Cura Villa Montallegro, Genoa, Italy;

The current systematic review presented and discussed the most recent studies on pediatric chronic cough. In addition, the Italian Society of Pediatric Allergy and Immunology elaborated a comprehensive algorithm to guide the primary care approach to a pediatric patient with chronic cough.Several algorithms on chronic cough management have been adopted and validated in clinical practice; however, unlike the latter, we developed an algorithm focused on pediatric age, from birth until adulthood. Based on our findings, children and adolescents with chronic cough without cough pointers can be safely managed, initially using the watchful waiting approach and, successively, starting empirical treatment based on cough characteristics. Unlike other algorithms that suggest laboratory and instrumental investigations as a first step, this review highlighted the importance of a "wait and see" approach, consisting of parental reassurance and close clinical observation, also due to inter-professional collaboration and communication between general practitioners and specialists that guarantee better patient management, appropriate prescription behavior, and improved patient outcome. Moreover, the neonatal screening program provided by the Italian National Health System, which intercepts several diseases precociously, allowing to treat them in a very early stage, helps and supports a "wait and see" approach.Conversely, in the presence of cough pointers or persistence of cough, the patient should be tested and treated by the specialist. Further investigations and treatments will be based on cough etiology, aiming to intercept the underlying disease, prevent potentially irreversible tissue damage, and improve the general health of patients affected by chronic cough, as well as the quality of life of patients and their family.
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http://dx.doi.org/10.15586/aei.v49i2.44DOI Listing
March 2021

Application of exhaled nitric oxide (FeNO) in pediatric asthma.

Curr Opin Allergy Clin Immunol 2021 Apr;21(2):151-158

Pediatrics Unit, Pisa University Hospital.

Purpose Of Review: Fractional concentration of Nitric Oxide in the exhaled air (FeNO) is a moderately good biomarker of type-2 airway inflammation, and its measurement is feasible also in children. The available evidence is still not enough to support the routine use of FeNO to diagnose or manage asthma in every patient in clinical practice. However, its role in identifying asthma with eosinophilic inflammation is of particular interest in the management of severe asthma.

Recent Findings: In healthy subjects, FeNO levels increase with age and height, particularly in males, and are also influenced by ethnicity. FeNO measurement can support asthma diagnosis and help in predicting asthma development later in life in young children with recurrent wheezing. FeNO-guided asthma management is effective in reducing asthma exacerbations but may result in a higher daily dose of inhaled corticosteroids. FeNO can also be used as a marker to evaluate adherence to asthma treatment and predict response to different biologicals, especially Omalizumab and Dupilumab.

Summary: This review outlines recent data on the application of FeNO in childhood-onset asthma diagnosis and management, as well as in phenotyping subjects with severe asthma who may benefit from monoclonal antibodies administration.
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http://dx.doi.org/10.1097/ACI.0000000000000726DOI Listing
April 2021

Eosinophilic esophagitis: clinical, endoscopic, histologic and therapeutic differences and similarities between children and adults.

Therap Adv Gastroenterol 2021 31;14:1756284820980860. Epub 2021 Jan 31.

Gastroenterology Unit, Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Via Roma 67, Pisa (PI), 56124, Italy.

In the absence of secondary causes, eosinophilic esophagitis (EoE) is a chronic, local, progressive, T-helper type 2 immune-mediated disorder characterized by symptoms of esophageal dysfunction and eosinophil-predominant inflammation. In the last 20 years, the incidence and prevalence of EoE have risen sharply, and the chances of encountering affected patients in clinics and endoscopy rooms have increased. Nevertheless, it is estimated that the mean diagnostic delay of EoE is 4-6 years in both children and adults. Unfortunately, the longer the disease stays unrecognized, the likelier it is for the patient to have persistent or increased esophageal eosinophilic inflammation, to complain of non-resolving symptoms, and to develop fibrotic complications. Early detection depends on the recognition of initial clinical manifestations that vary from childhood to adulthood and even among patients of the same age. The disease phenotype also influences therapeutic approaches that include drugs, dietary interventions, and esophageal dilation. We have herein reviewed epidemiologic, clinical, endoscopic, and histologic features and therapeutic options of EoE focusing on differences and similarities between children and adults that may certainly serve in daily clinical practice.
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http://dx.doi.org/10.1177/1756284820980860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871287PMC
January 2021

Inhaled corticosteroids use in childhood respiratory diseases: an italian survey on pediatricians' prescription habits.

Ital J Pediatr 2021 Feb 15;47(1):34. Epub 2021 Feb 15.

Pediatrics and Neonatology Unit, "Sapienza" University, Latina, Italy.

Background: A national consensus document on inhaled corticosteroids (ICS) use in childhood, produced by the main Italian pediatric scientific societies, has been recently released. The aim of this study was to gather information on the current pediatricians' ICS prescription habits in Italy for the management of the most common pediatric respiratory diseases, namely allergic rhinitis (AR), asthma, preschool wheezing and laryngitis.

Methods: From the 1st October 2018 to the 31st January 2019 a link to an online questionnaire was sent monthly through a newsletter to the members of the Italian Society of Pediatrics. The questionnaire included 18 items on ICS use in the most common pediatric respiratory diseases. Data collection and reporting was based on STROBE Statement Checklist for cross-sectional studies.

Results: One thousand-two questionnaires were returned from primary care pediatricians (39.1%), hospital pediatricians (38.7%), private practicers (16.4%), university pediatricians (3.1%) and Pediatrics residents (2.7%). We found a good adherence to the international guidelines on AR, with prevalent use of oral antihistamine (60.6%) in the secretive phenotype and nasal ICS in the obstructive phenotype (64.8%). In asthma exacerbations ICS are not used in 53.4% of cases, but they are used at high dose in 27.9% and at low dose in 18.7% of cases. In intermittent asthma, ICS are not chosen as a daily controller therapy in 54.1% of cases, while they are chosen as a low dose daily therapy in 44.5% of cases (high dose in 1.4%). In children with persistent asthma, ICS are chosen as a daily low dose therapy in 67.4% of cases and as a daily high dose therapy in 31%. In the management of preschool wheezing, when a long-term treatment is needed, ICS are chosen both alone and in association with antileukotrienes in 71.4% of cases. Children affected by recurrent asthma exacerbations and wheezing are closely followed up, in particular by their primary care pediatricians. The preference for certain molecules in the treatment of different respiratory diseases also emerged.

Conclusions: Pediatricians' ICS prescription habits in Italy should be improved, especially in the management of asthma. Future surveys on a more numerous sample will be useful to analyze differences in prescription habits on the basis of pediatricians' work settings and geographical distribution.
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http://dx.doi.org/10.1186/s13052-021-00988-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885514PMC
February 2021

Could nutritional supplements act as therapeutic adjuvants in COVID-19?

Ital J Pediatr 2021 Feb 15;47(1):32. Epub 2021 Feb 15.

Clinical and Experimental Medicine, Division of Pediatrics, University of Pisa, Via Roma 57, 56126, Pisa, PI, Italy.

Background: The role of the immune system and inflammatory response in the pathogenesis of the severe manifestations of coronavirus disease 2019 (COVID-19) is well known. Currently, different therapies active on the immune system are used for the management of COVID-19. The involvement of the immune system also opens the opportunity for the use of nutritional supplements with antimicrobial and immunomodulatory activity.

Main Aspects: Nutritional supplements with antimicrobial and immunomodulatory activity are promising therapeutic adjuvants for the treatment of COVID-19, and also for the prevention of viral spreading. In particular, the role of vitamin D, probiotics, lactoferrin, and zinc is of significant clinical interest, although there are only a few data on their use in COVID-19 patients. Their molecular actions, together with the results of studies performed on other respiratory infections, strongly suggest their potential utility in COVID-19. This article discusses the main properties of these nutritional supplements and their potential applicability in the prevention and treatment of COVID-19.

Conclusion: The supplementation with vitamin D, probiotics, lactoferrin and zinc could have a role both in preventing SARS-CoV-2 infection and in mitigating the clinical course in infected patients, contributing in the prevention of immune-mediated organ damage.
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http://dx.doi.org/10.1186/s13052-021-00990-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7883952PMC
February 2021

Nutritional Factors in the Prevention of Atopic Dermatitis in Children.

Front Pediatr 2020 12;8:577413. Epub 2021 Jan 12.

Department of Health Sciences, University of Milan, Milan, Italy.

Atopic dermatitis is one of the most frequent chronic skin diseases worldwide and often develops within the first few years of life. Recent advancements in our knowledge of its pathophysiology have brought to light the role of genetic predisposition and environmental triggers. With the increasing prevalence of allergic diseases, there is a strong need for a better understanding of the various modifiable eliciting factors of such conditions. The concomitant rise in food allergy and insights into the skin barrier function has highlighted the role of nutrition and diet in the prevention and modification of allergic disorders. Furthermore, the identification of the skin as an important route of sensitization, and the risk of progression to asthma later in life, stress the significance of optimizing our management of skin inflammation in the prevention of allergies. Many nutritional factors, including the type of maternal diet during pregnancy, the duration of breastfeeding, the epicutaneous exposure of allergenic food proteins in the first few years of life, the timing of the introduction of complementary foods, the supplementation of vitamins and probiotics/prebiotics during prenatal and early life, have been assessed as potential targets for the prevention of atopy and eczema. Here, we review the latest data addressing prenatal and perinatal nutritional and dietary interventions in the primary prevention of atopic dermatitis. Also, we define knowledge gaps and targets for future research in the prevention of atopic dermatitis.
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http://dx.doi.org/10.3389/fped.2020.577413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7874114PMC
January 2021

Complete Androgen Insensitivity Syndrome: From Bench to Bed.

Int J Mol Sci 2021 Jan 27;22(3). Epub 2021 Jan 27.

Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy.

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.
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http://dx.doi.org/10.3390/ijms22031264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7865707PMC
January 2021

PTSD in parents of children with severe diseases: a systematic review to face Covid-19 impact.

Ital J Pediatr 2021 Jan 14;47(1). Epub 2021 Jan 14.

Department of Clinical and Experimental Medicine, Psychiatric Clinic, Azienda Ospedaliero-Universitaria Pisana, University of Pisa, Pisa, Italy.

Context: The literature agrees on the impact of post-traumatic stress symptoms in parents of seriously ill children but there is less clarity about the real extent and gender differences of this psychopathological risk. The recent Covid-19 outbreak highlighted new burdens for researchers on Post Traumatic Stress Disorder (PTSD) and clear evidence-based knowledge on this issue is timely needed.

Objective: In this review, we present a synthesis of the updated evidence on PTSD rates in parents of children with severe diseases. We also aim to try to understand if research in this field has been refined over time with the long-term intent to better face the new challenges of Covid-19 in the paediatric field.

Data Sources: The PubMed database was searched.

Study Selection: Studies were included if they assessed PTSD in parents of children diagnosed with physical illnesses.

Data Extraction: Of 240 studies, 4 were included.

Results: Analysis of the 4 studies revealed 2 studies with PTSD rates around 20% and in line with previous best-evidence. All 4 studies tried to provide more data on fathers, however, all the studies present the lack of a control group.

Limitations: The limited number of studies, which also differ widely in the methodology used.

Conclusions: Methodological errors evidenced in all the 4 studies limit their reliability, making the understanding of the paediatric caregiver's concern regarding PTSD still difficult. More sound research is needed.
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http://dx.doi.org/10.1186/s13052-021-00957-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7807213PMC
January 2021

Use of Soy-Based Formulas and Cow's Milk Allergy: Lights and Shadows.

Front Pediatr 2020 17;8:591988. Epub 2020 Nov 17.

Section of Paediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Soybean () is a species of legume native to East Asia and used in childhood diet for over 2,000 years in the East. Soy protein formulas have been available for almost a century. Nowadays, the increase in cow's milk allergy and vegetarian dietary preferences are driving consumers toward cow's milk alternatives. In this paper, we reviewed the nutritional composition of soy-based infant formula and discussed their possible use in pediatric age, mainly focusing on prevention and treatment of cow's milk allergy. Protein quality is determined by digestibility and amino acid content. Purified or concentrated vegetable proteins (e.g., soy protein and gluten) have high digestibility (>95%), similar to those of animal ones. For some intact vegetable products (e.g., whole cereals and pulses), protein digestibility is lower (80-90%). Food processing and heat treatment also influence protein digestibility. Considering these data, we tried to evaluate the possible use of soybean and derivatives in pediatric age, including the nutritional composition of soy formulas and the clinical indications for their use. Moreover, since plant-based beverages are being perceived as healthy by consumers and their use is growing on the market, we recommend that soy drink should not be used as a substitute for infant formulas or cow's milk in children younger than 24 months.
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http://dx.doi.org/10.3389/fped.2020.591988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7707102PMC
November 2020

Probiotics in the prevention and treatment of atopic dermatitis.

Pediatr Allergy Immunol 2020 11;31 Suppl 26:43-45

Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Pisa, Italy.

The use of probiotic supplements might change the composition of the intestinal flora of children, subsequently modulating the immune system's reactivity. The effects of probiotic administration for the prevention/treatment of allergic diseases and atopic dermatitis, in particular, are still so controversial that no definitive recommendation can be made at this stage. Differences in strain specificity, timing, and length of administration all contribute to diversifying the conclusions of this review.
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http://dx.doi.org/10.1111/pai.13364DOI Listing
November 2020

Immunological Outcomes of Allergen-Specific Immunotherapy in Food Allergy.

Front Immunol 2020 3;11:568598. Epub 2020 Nov 3.

Swiss Institute of Allergy and Asthma Research (SIAF), University of Zurich, Davos, Switzerland.

IgE-mediated food allergies are caused by adverse immunologic responses to food proteins. Allergic reactions may present locally in different tissues such as skin, gastrointestinal and respiratory tract and may result is systemic life-threatening reactions. During the last decades, the prevalence of food allergies has significantly increased throughout the world, and considerable efforts have been made to develop curative therapies. Food allergen immunotherapy is a promising therapeutic approach for food allergies that is based on the administration of increasing doses of culprit food extracts, or purified, and sometime modified food allergens. Different routes of administration for food allergen immunotherapy including oral, sublingual, epicutaneous and subcutaneous regimens are being evaluated. Although a wealth of data from clinical food allergen immunotherapy trials has been obtained, a lack of consistency in assessed clinical and immunological outcome measures presents a major hurdle for evaluating these new treatments. Coordinated efforts are needed to establish standardized outcome measures to be applied in food allergy immunotherapy studies, allowing for better harmonization of data and setting the standards for the future research. Several immunological parameters have been measured in food allergen immunotherapy, including allergen-specific immunoglobulin levels, basophil activation, cytokines, and other soluble biomarkers, T cell and B cell responses and skin prick tests. In this review we discuss different immunological parameters and assess their applicability as potential outcome measures for food allergen immunotherapy that may be included in such a standardized set of outcome measures.
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http://dx.doi.org/10.3389/fimmu.2020.568598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670865PMC
November 2020

Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?

Minerva Pediatr 2020 Nov 17. Epub 2020 Nov 17.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.23736/S0026-4946.20.06134-4DOI Listing
November 2020

Structural and functional development in airways throughout childhood: Children are not small adults.

Pediatr Pulmonol 2021 Jan 24;56(1):240-251. Epub 2020 Nov 24.

Allergology Section, Paediatrics Unit, Pisa University Hospital, Pisa, Italy.

Children are not small adults and this fact is particularly true when we consider the respiratory tract. The anatomic peculiarities of the upper airway make infants preferential nasal breathers between 2 and 6 months of life. The pediatric larynx has a more complex shape than previously believed, with the narrowest point located anatomically at the subglottic level and functionally at the cricoid cartilage. Alveolarization of the distal airways starts conventionally at 36-37 weeks of gestation, but occurs mainly after birth, continuing until adolescence. The pediatric chest wall has unique features that are particularly pronounced in infants. Neonates, infants, and toddlers have a higher metabolic rate, and consequently, their oxygen consumption at rest is more than double that of adults. The main anatomical and functional differences between pediatric and adult airways contribute to the understanding of various respiratory symptoms and disease conditions in childhood. Knowing the peculiarities of pediatric airways is helpful in the prevention, management, and treatment of acute and chronic diseases of the respiratory tract. Developmental modifications in the structure of the respiratory tract, in addition to immunological and neurological maturation, should be taken into consideration during childhood.
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http://dx.doi.org/10.1002/ppul.25169DOI Listing
January 2021

The Role of Diet Diversity and Diet Indices on Allergy Outcomes.

Front Pediatr 2020 15;8:545. Epub 2020 Sep 15.

Section of Allergy and Immunology, Children Hospital Colorado, University of Colorado, Denver, CO, United States.

Nutrients in foods are not eaten in isolation and food intake interacts in a complex manner, affecting health and disease outcomes. For this reason, focusing on the whole "pattern" of dietary intake instead of the single nutrients or groups of nutrients when studying diseases outcomes is increasingly appealing and growing. Diet diversity refers to the variety of foods being eaten, and the terms, diversity or variety, are often used interchangeably. When the overall diet is characterized by healthy foods, diet diversity will reflect a diversity/variety of healthy foods eaten over a period of time. The introduction of solid foods in the 1st year of life is considered a measure of increased diet diversity. Consuming a diverse range of foods and food allergens in the first year of life may increase intake of important nutrients and positively affect the gut microbiome structure and function. Intake of omega-3 fatty acids and fibers/prebiotics may be particularly important but more information is required about dose and which individuals are most likely to benefit. Increased diet diversity in the first year of life is also associated with reduced food allergy outcomes. In addition to diet diversity, diet indices are considered measures of overall diet quality and can be used as a simple assessment of dietary intake. The focus of this paper is to review and critically address the current knowledge of the association between diet diversity and diet indices and allergy outcomes. Based on the current evidence, we recommend the introduction of solid foods, including common allergenic solids, during the 1st year of life, according to the infant's neuro-developmental abilities and familial or cultural habits. For infants with severe AD and/or FA, medical assessment may be advisable before introducing common food allergens into the diet. Limited evidence exist about the role of diet indices in pregnancy and allergic disease in the offspring, and the most promising results indicate a reduction in childhood wheeze and/or asthma intake.
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http://dx.doi.org/10.3389/fped.2020.00545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522364PMC
September 2020

The extra-lymphoid compartment of breast milk: Not a simple transfer of passive immunization.

J Leukoc Biol 2021 Apr 8;109(4):693-695. Epub 2020 Oct 8.

Department of Clinical and Experimental Medicine-Unit of Pediatrics, University of Pisa, Pisa, Italy.

Discussion on how breast milk shows similarity to the immune gut micro-environment, creating a sort of immune "extended gut" between mother and child; helps advance the newborn's immune endowment by further tuning mucosal immunity and CD8 memory cells in the early life intestine.
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http://dx.doi.org/10.1002/JLB.1CE0720-447RRDOI Listing
April 2021

Dietary Interventions and Nutritional Factors in the Prevention of Pediatric Asthma.

Front Pediatr 2020 18;8:480. Epub 2020 Aug 18.

Section of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Asthma is the most frequent chronic disease in children, and its pathogenesis involves genetic, epigenetic, and environmental factors. The rapid rise in the prevalence of asthma registered over the last few decades has stressed the need to identify the environmental and modifiable factors associated with the development of the disease. In particular, there is increasing interest in the role of modifiable nutritional factors specific to both the prenatal and post-natal early life as, during this time, the immune system is particularly vulnerable to exogenous interferences. Several dietary factors, including maternal diet during pregnancy, the duration of breastfeeding, the use of special milk formulas, the timing of the introduction of complementary foods, and prenatal and early life supplementation with vitamins and probiotics/prebiotics, have been addressed as potential targets for the prevention of asthma. In this review, we outline recent findings on the potential role of prenatal and perinatal dietary and nutritional interventions for the primary prevention of pediatric asthma. Moreover, we addressed unmet needs and areas for future research in the prevention of childhood-onset asthma.
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http://dx.doi.org/10.3389/fped.2020.00480DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461983PMC
August 2020

Asthma in children and adolescents: the ControL'Asma project.

Acta Biomed 2020 09 15;91(11-S):e2020002. Epub 2020 Sep 15.

Department of Pediatrics, Policlinico Umberto I, Sapienza University, Rome, Italy; “ControL’Asma” Study Group.

The control of asthma is the objective of asthma management. However, it is difficult to obtain in clinical practice. The Italian Society of Allergy and Clinical Immunology promoted the nationwide project "ControL'Asma" to investigate the real situation in a group of children and adolescents with asthma. The preliminary outcomes demonstrated that many asthmatic subjects do not achieve adequate asthma control. Moreover, asthma in Italian children and adolescents was usually more frequent in males, had an early onset and allergic phenotype with very frequent rhinitis comorbidity, uncontrolled and partly controlled asthma affected about the half of subjects. However, this project suggested that the assessment of asthma symptom perception by VAS could be a reliable tool in the asthma management.
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http://dx.doi.org/10.23750/abm.v91i11-S.10295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023065PMC
September 2020

Circulating microRNAs associated with C-type natriuretic peptide in childhood obesity.

Peptides 2020 11 20;133:170387. Epub 2020 Aug 20.

Laboratory of Biochemistry and Molecular Biology, Institute of Clinical Physiology, CNR, Pisa, Italy. Electronic address:

Circulating microRNAs (miRNAs) are potential biomarkers of metabolic disease implicated in the pathogenesis of obesity and at present, no data are available on a possible contribution of C-type natriuretic peptides (CNP)-linked miRNAs to childhood obesity. Our aims were to 1) perform an in silico-analysis to identify miRNAs targeting CNP gene; 2) recognize CNP-linked miRNAs associated with obesity; 3) characterize their circulating profiling in normal-weight (N) and obese adolescents (O). A clinical examination was performed in 25 N and 52 O adolescents. CNP plasma levels were detected by immunometric assay while miRNA expression was carried out on peripheral blood using Real-Time PCR. Plasma CNP resulted significantly lower in O than in N (5.58 ± 0.62 vs.14.78 ± 1.35 pg/mL, p < 0.0001). In silico-analysis disclosed several specific circulating CNP-linked miRNAs among which miR-33a-3p, miR-223-5p and miR-142-5p also associated with obesity. MiR-199-5p and miR-4454, known to be associated with obesity but not with CNP, were also studied. miR-223-5p and miR-33a-3p resulted significantly (p = 0.05) higher in O (0.97 ± 0.1; 0.85 ± 0.1, respectively) than in N (0.66 ± 0.11; 0.51 ± 0.08, respectively). Plasma CNP correlated inversely with miR-33a-3p (p = 0.036), miR-223-5p (p = 0.004), miR-199-5p (p = 0.003) and miR-4454 (p < 0.0001). Significantly positive correlations were observed between miR-33a-3p and miR-223-5p (p = 0.002) and between miR-199-5p and miR-4454 (p = 0.0001). Applying a multiple linear regression model, miR-142-5p, miR-199a-5p, miR-223-5p, miR33a-3p, diastolic blood pressure (DBP) and age were independent determinants of CNP. Our results underline the concept that expanding our knowledge on the behaviour of circulating miRNA profile may have a promising role for early identification of obese children at increased risk of cardiometabolic alterations.
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http://dx.doi.org/10.1016/j.peptides.2020.170387DOI Listing
November 2020

The Human Breast Milk Metabolome in Overweight and Obese Mothers.

Front Immunol 2020 21;11:1533. Epub 2020 Jul 21.

Neonatal Intensive Care Unit, Department of Surgical Sciences, AOU and University of Cagliari, Monserrato, Italy.

Pre-pregnancy body mass index (BMI) is a major relevance factor, since maternal overweight and obesity can impair the pregnancy outcome and represent risk factors for several neonatal, childhood, and adult conditions, including excessive weight gain, cardiovascular disease, diabetes mellitus, and even behavioral disorders. Currently, breast milk (BM) composition in such category of mothers was not completely defined. In this field, metabolomics represents the ideal technology, able to detect the whole profile of low molecular weight molecules in BM. Limited information is available on human BM metabolites differences in overweight or obese compared to lean mothers. Analyzing all the metabolomics studies published on Medline in English language, this review evaluated the effects that 8 specific types of metabolites found altered by maternal overweight and obesity (nucleotide derivatives, 5-methylthioadenosine, sugar-alcohols, acylcarnitine and amino acids, polyamines, mono-and oligosaccharides, lipids) can exert on the risk of offspring obesity development and other potentially associated health outcomes and complications. However, metabolites variations in samples collected from overweight and obese mothers and the potentially correlated effects highlighted below still need further investigations and should be confirmed in future metabolomics studies on larger samples. Finally, the positive or negative influence of maternal overweight and obesity on the offspring, potentially exerted by breastfeeding, should be analyzed in close correlation with maternal age, genetic and environmental factors, including diet, and taking into account the interactions occurring between BM metabolites and lactobiome. The evaluation of all the factors affecting BM metabolites in overweight and obese mothers can lead to the comprehensive description of such biofluid and the related effects on breastfed subjects, potentially highlighting personalized needs of BM supplementation or short- and long-term prevention strategies to optimize offspring health.
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http://dx.doi.org/10.3389/fimmu.2020.01533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7385070PMC
July 2020

Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.

J Bone Miner Metab 2021 Mar 8;39(2):212-223. Epub 2020 Aug 8.

Division of Dentistry and Oral Surgery, Department of Surgical Specialties, University-Hospital, Pisa, Italy.

Introduction: Rickets, growth failure, and recurrent periapical abscesses with fistulae are main signs in patients with X-linked hypophosphatemic rickets (XLH). Prevalence of abscesses, pulp chamber features, biochemical findings, disease severity, and PHEX gene mutation were examined.

Materials And Methods: Pulp chambers size, shape, and morphology were assessed by orthopantomography in XLH patients (n = 24, age 5.8 ± 1.6 years) and in sex and age-matched healthy controls (n = 23, age 6.2 ± 1.4 years). XLH patients received conventional treatment (3.5 ± 1.9 years). Pulp chamber features were assessed in teeth of primary dentition and in the permanent left mandibular first molar and compared with those of controls. Rickets severity score was assessed at wrist, knee, and ankle.

Results: The mean pulp chamber area/tooth area ratio, mean pulp chamber height/pulp chamber width ratio, and prominence of pulp horns into the tooth crown in primary and secondary molars were significantly higher in patients than in controls and in patients suffered abscesses than in patients without abscesses. Sixteen patients (67%) had a history of abscesses; incisors were affected more than canines and molars. Severity of rickets and mean serum parathyroid hormone (PTH) levels were significantly higher, and mean serum 1,25-dihydroxyvitamin D [1,25(OH)D] levels significantly lower in patients suffered abscesses than in patients without abscesses. PHEX gene mutations were not correlated with dental phenotype and disease severity.

Conclusion: Enlarged pulp chambers with altered shape and morphology affected the majority of XLH patients predisposing to recurrent periapical abscesses with fistulae. Dental phenotype was associated with severity of rickets, high serum PTH, and low serum 1,25(OH)D levels.
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http://dx.doi.org/10.1007/s00774-020-01136-8DOI Listing
March 2021

Challenges and management of neurological and psychiatric manifestations in SARS-CoV-2 (COVID-19) patients.

Neurol Sci 2020 Sep 6;41(9):2353-2366. Epub 2020 Aug 6.

Pediatric Neurology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

COVID-19 is a pandemic caused by human coronavirus (HCoV) SARS-CoV-2, which originated in Wuhan, China, at the end of 2019 and spread globally during 2020. Due to the difficulty of clinical decision-making during this period, our study group reviewed current literature focusing on the neurological and psychiatric aspects of COVID-19. Despite the knowledge on this newly discovered virus which is constantly evolving, different pieces of evidence reported an association between COVID-19 and neurological symptoms like headache, dizziness, taste and smell disorders and complications involving the nervous system eventually triggered by the pathologic processes elicited by SARS-CoV-2. It seems that younger patients are less prone to develop severe forms of COVID-19. However, neurological signs have been reported in paediatric patients as well, and in some cases, the infection presented neurological sequelae. Furthermore, children with particular neurological diseases or treated with specific drugs (e.g. immune-suppressant therapies) must be carefully monitored during this pandemic. Neurologists should be aware of the main drug-drug interactions and the neurological side effects of COVID-19 treatments. Notably, adverse mental health impact has been reported in patients with SARS-CoV-2, which could be related either to the social strain or to the eventual neurotropic effects of the virus, which in other infections have been proven to promote the onset of psychiatric symptoms. Further, psychiatric population may be more vulnerable to the infection and at higher risk for adverse outcomes.
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http://dx.doi.org/10.1007/s10072-020-04544-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7410516PMC
September 2020

Go With Your Gut: The Shaping of T-Cell Response by Gut Microbiota in Allergic Asthma.

Front Immunol 2020 14;11:1485. Epub 2020 Jul 14.

Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Pisa, Italy.

Novel methods in immunological research and microbiome evaluation have dramatically changed several paradigms associated with the pathogenesis of allergic asthma (AAS). Ovalbumin and house dust mite-induced AAS in germ-free or specific pathogen-free mice are the two leading experimental platforms that significantly contribute to elucidate the relationship between AAS and gut microbiota. Beyond the exacerbation of T helper (Th) 2 responses, a complex network of immunological interaction driven by gut microbiota could modulate the final effector phase. Regulatory T cells are abundant in gastrointestinal mucosa and have been shown to be pivotal in AAS. The gut microbiota could also influence the activity of other T cell subsets such as Th9, Th17, and populations of effector/memory T lymphocytes. Furthermore, gut microbiota metabolites drive the hematopoietic pattern of dendritic cells and ameliorate lung Th2 immunity in AAS models. The administration of probiotics has shown conflicting results in AAS, and limited evidence is available on the immunological pathways beyond their activity. Moreover, the impact of early-life gut dysbiosis on AAS is well-known both experimentally and clinically, but discrepancies are observed between preclinical and clinical settings. Herein, our aim is to elucidate the most relevant preclinical and clinical scenarios to enlighten the potential role of the gut microbiota in modulating T lymphocytes activity in AAS.
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http://dx.doi.org/10.3389/fimmu.2020.01485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372123PMC
July 2020