The power of stories in Pediatrics and Genetics

On the occasion of the opening ceremony of the 43rd Sicilian Congress of Pediatrics, linked with Italian Society of Pediatrics SIP, SIN, SIMEUP, SIAIP and SINP, held in Catania in November 2015, the Organizing Committee dedicated a tribute to Professor John Opitz and invited him to give a Masters Lecture for the attendees at the Congress. The theme expounded was "Storytelling in Pediatrics and Genetics: Lessons from Aesop and from Mendel". The contribution of John Opitz to the understanding of pediatric clinical disorders and genetic anomalies has been extremely relevant. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world

Macronutrient balance and micronutrient amounts through growth and development

Nutrition is essential for human growth, particularly in newborns and children. An optimal growth needs a correct diet, in order to ensure an adequate intake of macronutrients and micronutrients. Macronutrients are the compounds that humans consume in largest quantities, mainly classified in carbohydrates, proteins and fats. Micronutrients are instead introduced in small quantities, but they are required for an adequate growth in the pediatric age, especially zinc, iron, vitamin D and folic acid. In this manuscript we describe the most important macro and micronutrients for children's growth

Perinatal and newborn care in a two years retrospective study in a first level peripheral hospital in Sicily (Italy)

BACKGROUND: Two hundred seventy-five thousand maternal deaths, 2.7 million neonatal deaths, and 2.6 million stillbirths have been estimated in 2015 worldwide, almost all in low-income countries (LICs). Moreover, more than 20 million severe disabilities result from the complications of pregnancy, childbirth or its management each year. A significant decrease of mortality/morbidity rates could be achieved by providing effective perinatal and newborn care also in high-income countries (HICs), especially in peripheral hospitals and/or rural areas, where the number of childbirths per year is often under the minimal threshold recognized by the reference legislation. We report on a 2 years retrospective cohort study, conducted in a first level peripheral hospital in Cefalù, a small city in Sicily (Italy), to evaluate care provided and mortality/morbidity rates. The proposed goal is to improve the quality of care, and the services that peripheral centers can offer. METHODS: We collected data from maternity and neonatal records, over a 2-year period from January 2017 to December 2018. The informations analyzed were related to demographic features (age, ethnicity/origin area, residence, educational level, marital status), diagnosis at admission (attendance of birth training courses, parity, type of pregnancy, gestational age, fetal presentation), mode of delivery, obstetric complications, the weight of the newborns, their feeding and eventual transfer to II level hospitals, also through the Neonatal Emergency Transport Service, if the established criteria were present. RESULTS: Eight hundred sixteen women were included (age 18-48 years). 179 (22%) attended birth training courses. 763 (93%) were Italian, 53 foreign (7%). 175 (21%) came from outside the province of Palermo. Eight hundred ten were single pregnancies, 6 bigeminal; 783 were at term (96%), 33 preterm (4%, GA 30-41 WG); 434 vaginal deliveries (53%), 382 caesarean sections (47%). One maternal death and 28 (3%) obstetric complications occurred during the study period. The total number of children born to these women was 822, 3 of which stillbirths (3.6‰). 787 (96%) were born at term (>37WG), 35 preterm (4%), 31 of which late preterm. Twenty-one newborns (2.5%) were transferred to II level hospitals. Among them, 3 for moderate/severe prematurity, 18 for mild prematurity/other pathology. The outcome was favorable for all women (except 1 hysterectomy) and the newborns transferred, and no neonatal deaths occurred in the biennium under investigation. Of the remaining 798 newborns, 440 were breastfed at discharge (55%), 337 had a mixed feeding (breastfed/formula fed, 42%) and 21 were formula fed (3%). CONCLUSIONS: Although the minimal standard of adequate perinatal care in Italy is >500 childbirths/year, the aims of the Italian legislation concern the rationalization of birth centers as well as the structural, technological and organizational improvement of health facilities. Therefore, specific contexts and critical areas need to be identified and managed. Adequate resources and intervention strategies should be addressed not only to perinatal emergencies, but also to the management of mild prematurity/pathology, especially in vulnerable populations for social or orographic reasons. The increasing availability and spread of health care offers, even in HICs, cannot be separated from the goal of quality of care, which is an ethic and public health imperative

Standard and Specialized Infant Formulas in Europe: Making, Marketing, and Health Outcomes

Infant formulas are the only suitable substitute for human milk. The most common infant formulas are standard formulas based on cow's milk. In addition, there are formulas for infants showing signs and symptoms of intolerance and for clinical conditions such as allergy, prematurity, and gastrointestinal diseases. A comprehensive review of the literature was made to review the composition of standard and specialized infant formulas and analyze indications for use, real or presumed nutrition differences and properties, and impact on infant growth. A brief consideration on costs is outlined for each formula. Over the past few years, industrial production and advertising of infant formulas have increased. Human milk still remains the most complete source of nutrition for infants and should be continued according to the current recommendations. Few differences exist between infant formulas, both for the nutrition action and the macronutrient/micronutrient composition. Specialized infant formulas have limited indications for use and high costs. The role of the pediatrician is crucial in the management of infant nutrition, promotion of breastfeeding, and prescribing of specialized formulas only in specific clinical conditions

The future outlook on allergen immunotherapy in children: 2018 and beyond.

Allergen immunotherapy (AIT) is the only currently available immune-modifying and aetiological treatment for patients suffering from IgE-mediated diseases. In childhood, it represents a suitable therapeutic option to intervene during the early phases of respiratory allergic diseases such as rhino-conjunctivitis and asthma, which is when their progression may be more easily influenced. A growing body of evidence shows that oral immunotherapy represents a promising treatment option in children with persistent IgE- mediated food allergy. The efficacy of AIT is under investigation also in patients with extrinsic atopic dermatitis, currently with controversial results. Furthermore, AIT might be a strategy to prevent the development of a new sensitization or of a (new) allergic disease. However, there are still some methodological criticisms, such as: a) the regimen of administration and the amount of the maintenance dose are both largely variable; b) the protocols of administration are not standardized; c) the description and classification of side effects is variable among studies and needs to be standardized; d) quality of life and evaluation of health economics are overall missing. All these aspects make difficult to compare each study with another. In addition, the content of major allergen(s) remains largely variable among manufacturers and the availability of AIT products differences among countries. The interest and the attention to AIT treatment are currently fervent and increasing. Well-designed studies are awaited in the near future in order to overcome the current gaps in the evidence and furtherly promote implementation strategies

Indole diterpenoid natural products as the inspiration for new synthetic methods and strategies.

Indole terpenoids comprise a large class of natural products with diverse structural topologies and a broad range of biological activities. Accordingly, indole terpenoids have and continue to serve as attractive targets for chemical synthesis. Many synthetic efforts over the past few years have focused on a subclass of this family, the indole diterpenoids. This minireview showcases the role indole diterpenoids have played in inspiring the recent development of clever synthetic strategies, and new chemical reactions

Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

Guideline on management of the acute asthma attack in children by Italian Society of Pediatrics.

BACKGROUND: Acute asthma attack is a frequent condition in children. It is one of the most common reasons for emergency department (ED) visit and hospitalization. Appropriate care is fundamental, considering both the high prevalence of asthma in children, and its life-threatening risks. Italian Society of Pediatrics recently issued a guideline on the management of acute asthma attack in children over age 2, in ambulatory and emergency department settings. METHODS: The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology was adopted. A literature search was performed using the Cochrane Library and Medline/PubMed databases, retrieving studies in English or Italian and including children over age 2 year. RESULTS: Inhaled ß2 agonists are the first line drugs for acute asthma attack in children. Ipratropium bromide should be added in moderate/severe attacks. Early use of systemic steroids is associated with reduced risk of ED visits and hospitalization. High doses of inhaled steroids should not replace systemic steroids. Aminophylline use should be avoided in mild/moderate attacks. Weak evidence supports its use in life-threatening attacks. Epinephrine should not be used in the treatment of acute asthma for its lower cost / benefit ratio, compared to β2 agonists. Intravenous magnesium solphate could be used in children with severe attacks and/or forced expiratory volume1 (FEV1) lower than 60% predicted, unresponsive to initial inhaled therapy. Heliox could be administered in life-threatening attacks. Leukotriene receptor antagonists are not recommended. CONCLUSIONS: This Guideline is expected to be a useful resource in managing acute asthma attacks in children over age 2

Symptomatic seizures in preterm newborns: a review on clinical features and prognosis

Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements.Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial cranial ultrasound and brain magnetic resonance at term-equivalent age. Unfavourable outcomes following seizures in preterm infants include death, neurodevelopmental impairment, epilepsy, cerebral palsy, hearing and visual impairment. As experimental evidence suggests a detrimental role of seizures per se in determining subsequent outcome, they should be promptly treated with the aim to reduce seizure burden and long-term disabilities. However, neonatal seizures show low response to conventional anticonvulsant drugs, and this is even more evident in preterm newborns, due to intrinsic developmental factors. As a consequence, as literature does not provide any specific guidelines, due to the lack of robust evidence, off-label medications are often administered in clinical practice