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Abstract 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.

Abstract This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. Many studies have informed on epidemiologic observations. Promising outcomes in prevention, diagnosis and treatment have been reported. We think that advances realized in 2018 can now be utilized to ameliorate patient care.

Abstract The aim of this guidance is to provide recommendations to clinicians and other interested parties on chronic urticaria in children. The Italian Society for Pediatrics (SIP), the Italian Society for Allergy and Immunology (SIAIP), the Italian Society for Pediatric dermatology (SIDerP) convened a multidisciplinary panel that prepared clinical guidelines for diagnosis and management of chronic urticaria in childhood. Key questions on epidemiology, natural history, diagnosis, and management were developed. The literature was systematically searched and evaluated, recommendations were rated and algorithms for diagnosis and treatment were developed. The recommendations focus on identification of diseases and comorbidities, strategies to recognize triggering factors, improvement of treatment by individualized care.

Abstract Lung function impairment is common in Congenital Diaphragmatic Hernia (CDH) survivors. The aim of this study was to evaluate, in children who underwent CDH surgical repair, mid and long-term consequences on respiratory impedance, investigating the impact of CDH on both resistance and reactance parameters, as well as bronchodilator response. Forced Oscillation Technique (FOT) parameters were collected from 12 patients (2–11 years). Resistance and reactance values at 8 Hz (Rrs8, Xrs8) and the area under the reactance curve (AX) were measured pre and post-salbutamol. Quantitative variables were compared using Mann-Whitney U test. Differences of categorical variables were evaluated using Fisher exact test. Statistically significant differences between measured and predicted values for Rrs8 (p = 0.04), Xrs8 (p = 0.02) and AX (p = 0.01) were found. When stratifying for age, significant difference between measured and predicted values was observed only in children

Abstract Violence against children includes all forms of violence against people under 18 years old whether perpetrated by parents or other caregivers, peers, partners, teacher or strangers. This is a public health, human rights, and social problem: levels of violence against children are frightfully high and it is estimated that up to 1 billion children aged 2–17 years, have experienced a type of violence. Very few studies provided physical violence perpetrated at school but it can have a physical impact, causing psychological distress, permanent physical disability and long-term physical or mental ill-health. Children who experienced any type of violence at school may develop reactive attachment disorder, modest physical inactivity, overweight or obesity, diabetes, smoking habits, heavy alcohol use, poor self-rated health, cancer, heart disease, and respiratory disease and other negative outcomes. Evidence from international studies clearly shows that nonviolent, positive discipline delivers better results, while any type of violence is associated with many negative one.

Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.

Abstract Background A physiologic test for estimating BPD rate has been developed by Walsh and collaborators. Actually there are not standard criteria for weaning from CPAP and/or oxygen therapy the premature babies. Aim of this study was to verify if a physiologic test, modified respect to that developed by Walsh and collaborators for estimating BPD rate, can be used as a clinical tool for weaning the premature babies from CPAP and/or oxygen therapy. Methods Neonates with BW 500–1250 g and GA ≤ 32 weeks, receiving FiO2 ≤ 0.30 by hood or CPAP, were prospectively studied at 28 days of life and at 36 weeks of postmestrual age. The test was performed in 3 steps: baseline, challenge (FiO2 and CPAP reduction to room air) and post test (room air). Monitoring of transcutaneous CO2 was added to SpO2 and the newborns passing the test were left in room air. Results Six of 23 tested babies (26%) passed the challenge at 28 days of life, 4 of 10 tested babies (40%) passed the challenge at 36 weeks. Median values of SpO2 were significantly higher in the neonates passing the test, respect to the failing patients. At the same time median values of TcPCO2 were significantly higher in the latter babies. Conclusion TcPCO2 monitoring appeared to be a new useful parameter for failure prediction of weaning. The test represented a clinical guide because the newborns passing it were left in room air.

Vitamin D (VD) is an essential micronutrient with multiple functions for human growth, and adequate intake should be guaranteed throughout life. However, VD insufficiency is observed in infants all over the world. Low VD concentration in the breast milk of non-supplemented mothers and low compliance to VD daily supplementation are the main causes of VD insufficiency, especially in the long term. Furthermore, VD supplementation dosages are still debated and differ by country. We conducted a systematic review to compare the most recent evidence on different postnatal VD supplementation strategies, determining whether supplementation given to the mother is as effective as that administered directly to the child, and whether different dosages and administration schedules differ significantly in terms of efficacy and safety. We identified 18 randomized controlled trials (RCTs) addressing the role of infant (n = 961), maternal (n = 652) or combined infant and maternal VD supplementation (n = 260 pairs). In all studies, similar outcomes emerged in terms of efficacy and safety. According to our findings, alternative approaches of VD supplementation may be adopted, especially in cases where the adherence to daily supplementation strategies is poor. This review shows that different dosages and supplementation strategies result in similar VD sufficiency rates. Therefore, international guidelines may be revised in the future to offer multiple and different options of supplementation for specific settings and ages.

Background: Intussusception represents the most common cause of abdominal emergency among young children but nearly 75% of cases are still considered idiopathic. Research design and methods: A case–control study was conducted among Sicilian children aged 0–59 months with a hospital admission for intussusception between 2009 and 2015 to identify factors associated with intussusception onset. Results: Overall, 125 cases and 190 controls were recruited for the study. Birth order (OR 1.49, 95%CI: 1.10, 2.02, P = 0.02) and having had gastroenteritis or having taken antibiotics during the 30 days prior to hospitalization (OR 11.55, 95%CI: 3.23, 41.23, P

Background: Many aspects of SARS-CoV-2 infection in children and adolescents remain unclear and optimal treatment is debated. The objective of our study was to investigate epidemiological, clinical and therapeutic characteristics of pediatric SARS-CoV-2 infection, focusing on risk factors for complicated and critical disease.Methods: The present multicenter Italian study was promoted by the Italian Society of Pediatric Infectious Diseases, involving both pediatric hospitals and general pediatricians/family doctors. All subjects under 18 years of age with documented SARS-CoV-2 infection and referred to the coordinating center were enrolled from March 2020.Results: As of 15 September 2020, 759 children were enrolled (median age 7.2 years, IQR 1.4; 12.4). Among the 688 symptomatic children, fever was the most common symptom (81.9%). Barely 47% of children were hospitalized for COVID-19. Age was inversely related to hospital admission (p < 0.01) and linearly to length of stay (p = 0.014). One hundred forty-nine children (19.6%) developed complications. Comorbidities were risk factors for complications (p < 0.001). Viral coinfections, underlying clinical conditions, age 5–9 years and lymphopenia were statistically related to ICU admission (p < 0.05).Conclusions: Complications of COVID-19 in children are related to comorbidities and increase with age. Viral co-infections are additional risk factors for disease progression and multisystem inflammatory syndrome temporarily related to COVID-19 (MIS-C) for ICU admission.

Background. Neonatal brain injury (NBI) can lead to a significant neurological disability or even death. After decades of intense efforts to improve neonatal intensive care and survival of critically ill newborns, the focus today is an improved long-term neurological outcome through brain-focused care. The goal of neuroprotection in the neonatal intensive care unit (NICU) is the prevention of new or worsening NBI in premature and term newborns. As a result, the neonatal neurocritical care unit (NNCU) has been emerging as a model of care to decrease NBI and improve the long-term neurodevelopment in critically ill neonates. Purpose. Neurocritical care (NCC) Sicilian project includes three academic sites with NICU in Sicily (Catania, Messina, and Palermo), and its primary goal is to develop neurocritical neonatal care unit (NNCU). Methods. In 2018, the three NICUs created a dedicated space for neonates with primary neurological diagnosis or at risk for neurological injuries—NNCU. Admission criteria for eligible patients and treatment protocols were created. Contact with parents, environmental protection, basic monitoring, brain monitoring, pharmacological therapy, and organization of the staff were protocolized. Results. Evaluation of the efforts to establish NNCU within existing NICU, current protocols, and encountered problems are shown. Implications for Practice. Our outcome confirmed the need for dedicated NNCU for neuroprotection of critically ill neonates at risk for a neurological injury. Although the literature on neonatal neurocritical care is still scarce, we see the value of such targeted approach to newborn brain protection and therefore we will continue developing our NNCU, even though there have been problems encountered. The project of building NNCU will continue to be closely monitored. Conclusions. The development of our neonatal neurocritical model of care is far from being completed. Although it is currently limited to the Sicilian area only, the goal of this paper is to share the development of this multicenter interdisciplinary project focused on a newborn brain protection. After evaluating our outcome, we strongly believe that a combined expertise in neonatal neurology and neonatal critical care can lead to an improved neurodevelopmental outcome for critically ill neonates, from the extremely preterm to those with brain injuries.

Background: Kawasaki Disease is a systemic vasculitis, particularly involving coronary arteries. Rare involvement of other vascular districts is described, as central nervous system arteries, leading to a vasculitic neuropathy. Sensorineural hearing loss and alterations of evoked potentials are uncommonly reported complications.Methods: In an observational monocentric study, 59 children (37 males; 22 females; mean age: 2.7 ± 2.2 years) with documented Kawasaki Disease were enrolled. No risk factors for hearing loss and/or neurological impairment were identified in the cohort. Brainstem auditory evoked potentials and visual evoked potentials were correlated with clinical, hamatological and radiological data, evaluated in the acute phase of the Kawasaki Disease, and during the follow-up.Results: Evoked potentials were altered in 39/59 patients (66%): of these, 27/39 (69%) showed altered IV and V waves and/or III-V interwave latencies of brainstem auditory evoked potentials; 4/39 (10%) showed pathological visual evoked potentials; 8/39 (21%) had abnormalities of both brainstem auditory evoked potentials and visual evoked potentials. No permanent deafness was reported.Conclusion: Abnormalities in visual evoked potentials were not significantly correlated with coronary artery lesions; however, the presence of abnormalities of brainstem auditory evoked potentials were associated with the risk of coronary artery lesions.

BackgroundLongitudinal research studies have demonstrated that experienced clinicians using standardized assessment measures can make a reliable diagnosis of autism spectrum disorders (ASDs) in children under age 3. Limited data are available regarding the sensitivity and specificity of these measures in community settings. The aims of this study were to determine how well a standardized diagnostic observational measure (Autism Diagnostic Observation Schedule - ADOS) functions alone, and with a brief parent measure within a community setting when administered by community clinicians.MethodsClinical records for 138 children between the ages of 24 and 36 months of age who were evaluated for possible ASD or social/language concerns at a hospital-based developmental evaluation clinic were examined. Evaluations were conducted by community-based clinical psychologists. Classification results obtained from standardized diagnostic measures were compared with case reviewer diagnosis, by reviewers blind to scores on diagnostic measures, using The Records-based Methodology for ASD Case Definition that was developed by the Metropolitan Atlanta Developmental Disabilities Surveillance Program.ResultsWhen compared with case review diagnosis, the ADOS demonstrated strong sensitivity and specificity for both Autism versus Not Autism and ASD versus Nonspectrum (NS) diagnoses in this young sample. The Social Communication Questionnaire (SCQ), using the lower cutoff of ≥12, had adequate sensitivity when differentiating Autism from Not Autism, but weak sensitivity when differentiating ASD from NS, missing about 80% of the children with pervasive developmental disorder - not otherwise specified. Using either the Modified Checklist for Autism in Toddlers or the SCQ in combination with the ADOS did not result in improved specificity over the ADOS alone and led to a drop in sensitivity when differentiating ASD from NS disorders.ConclusionsThese results demonstrate that following best practice guidelines, the ADOS can be successfully incorporated into clinical practice with relatively good sensitivity and specificity, and worked well with a referred sample of 2-year-olds. A parent questionnaire did not lead to any improvement in diagnostic classification above the ADOS used in isolation.

Background: John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz's early life was marked by adversities. Despite these challenges, he pursued a remarkable career, immigrating to the United States at 15 years and becoming a renowned scientist in institutions like Iowa State University and the University of Wisconsin, where he made groundbreaking contributions to clinical genetics. Main body: A testament to his compassionate nature, Opitz dedicated himself to understanding and treating rare genetic disorders, earning him eponymous recognition in several medical conditions. His impact extended beyond academia, as evidenced by his collaborative efforts with Sicilian universities to advance clinical genetics in Italy. Opitz's teaching style emphasized simplicity, empathy, and meticulous clinical examination, leaving an indelible mark on students and colleagues. Conclusion: John M. Opitz's towering intellect, compassionate demeanor, and profound impact on medicine and genetics made him a figure of enduring significance. His legacy lives on through the countless lives he touched, the knowledge he transmitted, and the enduring friendships he forged. In remembering John Opitz, we honor not only a man, but also a myth—a symbol of resilience, humanity, and scientific excellence. [ABSTRACT FROM AUTHOR]

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

The infiltration procedure with hyaluronic acid has proven to be effective and safe in the integrated multimodal therapy of hip osteoarthritis. Ultrasound represents a diagnostic and therapeutic support to the infiltration procedure; it is hence possible to carry out an appropriate study of the hip in the pre-infiltration phase. Through ultrasound-guiding, the infiltration therapy can be performed with precision, safety, and maximum comfort for the patient. Ultrasound imaging allows us to study the capsular space and the identification of the capsular line, and after the introduction of hyaluronic acid, the capsular expansion of the hip can be a parameter of treatment efficacy. This study evaluates the extent of capsular expansion of the hip in ultrasound after infiltration therapy and its correlation with a positive outcome.

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations.Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of CNTNAP2 gene inherited from a healthy father.Conclusions: A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to CNTNAP2 gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced.

The most known effects of endogenous Cushing’s syndrome are the phenotypic changes and metabolic consequences. However, hypercortisolism can exert important effects on other endocrine axes. The hypothalamus–pituitary–thyroid axis activity can be impaired by the inappropriate cortisol secretion, which determinates the clinical and biochemical features of the “central hypothyroidism”. These findings have been confirmed by several clinical studies, which also showed that the cure of hypercortisolism can determine the recovery of normal hypothalamus–pituitary–thyroid axis activity. During active Cushing’s syndrome, the “immunological tolerance” guaranteed by the hypercortisolism can mask, in predisposed patients, the development of autoimmune thyroid diseases, which increases in prevalence after the resolution of hypercortisolism. However, the immunological mechanism is not the only factor that contributes to this phenomenon, which probably includes also deiodinase-impaired activity. Cushing’s syndrome can also have an indirect impact on thyroid function, considering that some drugs used for the medical control of hypercortisolism are associated with alterations in the thyroid function test. These considerations suggest the utility to check the thyroid function in Cushing’s syndrome patients, both during the active disease and after its remission.

Abstract 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.

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

Abstract This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications, including non-pharmacologic treatments, follow-up, lifestyle and prevention of cardiovascular risks in the long-term through a set of 17 recommendations. Guidelines, however, should not be considered a norm that limits the treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient’s condition, and disease severity or individual complications.

Abstract This review provides an overview of a remarkable number of significant studies in pediatrics that have been published over the past year in the Italian Journal of Pediatrics. We have selected information from papers presented in the Journal that deal with allergy, endocrinology, gastroenterology, genetics, immunology, infectious diseases, neonatology, nephrology, neurology, pulmonology. The relevant epidemiologic findings, and developments in prevention, diagnosis and treatment of the last year have been discussed and placed in context. We think that advances achieved in 2017 will help readers to make the future of patients better.

Abstract Background The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. Methods The preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years). Results A wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date. Conclusions This study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.

Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization analysis using Sex-determining Region Y probe revealed no signal on the derivative Y chromosome. At the admittance, height was 84.5 cm (− 1.24 SDS); SPAN was 79 cm; sitting height: 72.4 cm; weight was 17.5 kg. Bone age was 1.2 years. Multiplex Ligation Probe Amplification showed a heterozygous deletion of the Short Stature Homeobox-containing gene and of the pseudoautosomal region-1. This result correlated with Leri-Weill Syndrome. She started Growth Hormone treatment, with a good response. The case described shows a rare translocation, involving the X chromosome and including SHOX gene and the pseudoautosomal region-1. At our knowledge, this is the first case of a patient with a karyotype 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2) and Short Stature Homeobox-containing gene haploinsufficiency, successfully treated with Growth Hormone.