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1.  Congenital esophageal stenosis diagnosed in an infant at 9 month of age 
Esophageal stenosis is a relatively uncommon condition in pediatrics and requires an accurate diagnostic approach. Here we report the case of a 9-month old female infant who presented intermittent vomiting, dysphagia and refusal of solid foods starting after weaning. She was treated for gastroesophageal reflux. At first, radiological investigation suggested achalasia, while esophagoscopy revelaed a severe congenital esophageal stenosis at the distal third of the esophagus. She underwent four endoscopic balloon dilatations that then allowed her to swallow solid food with intermittent mild dysphagia. After 17 months of esomeprazole treatment off therapy impedance-pH monitoring was normal. At 29 months of follow-up the child is asymptomatic and eats without problems.
Infants with dysphagia and refusal of solid foods may have undiagnosed medical conditions that need treatment. Many disorders can cause esophageal luminal stricture; in the pediatric age the most common are peptic or congenital. Careful assessment with endoscopy is needed to diagnose these conditions early and referral to a pediatric gastroenterologic unit may be necessary.
PMCID: PMC4594644  PMID: 26444666
Dysphagia; Congenital esophageal stenosis; Infant; Endoscopic balloon dilatation
2.  Evaluation of 563 children with chronic cough accompanied by a new clinical algorithm 
This study aims to evaluate the children with chronic cough and to analyze their etiological factors according to the age groups.
Five hundred sixty-three children with chronic cough were included. The last diagnosis were established and were also emphasized according to the age groups.
The mean age was 5.4 ± 3.8 years (2-months–17-years) and 52 % of them were male. The most common final diagnosis from all the participants were: asthma (24.9 %), asthma-like symptoms (19 %), protracted bacterial bronchitis (PBB) (11.9 %), and upper airway cough syndrome (9.1 %). However, psychogenic cough was the second most common diagnosis in the subjects over 6 years of age.
Asthma and asthma-like symptoms were the most common diagnosis in children. Different age groups in children may have a different order of frequencies. Psychogenic cough should be thought of in the common causes especially in older children.
PMCID: PMC4595107  PMID: 26444536
Chronic cough; Child; Cough algorithm
3.  Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency 
Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown that the majority of individuals with NS have a mutation in the PTPN11 gene. Noonan syndrome children may show an impaired growth hormone (GH)/insulin-like growth factor axis. Moreover, recombinant human GH (rhGH) has been shown to improve growth rate in patients with NS, although data are still limited.
In the present study, we assessed growth response following GH therapy (0.25 mg/Kg/week) in 5 (2 M and 3 F) GH-deficient NS patients (NSGHD, mean age 8.5 years) and in 5 (2 M and 3 F) idiopathic GH deficient (IGHD, mean age 8.6 years) patients. We also evaluated the safety of rhGH therapy in NS patients with GHD.
At the beginning of GH treatment, height and growth rate were statistically lower in NSGHD children than in IGHD ones. During the first three years of rhGH therapy, NSGHD patients showed a slight improvement in height (from −2.71 SDS to −2.44 SDS) and growth rate (from −2.42 SDS to −0.23 SDS), although the values were always significantly lower than in IGHD children. After five years of rhGH treatment, height gain was higher in IGHD children (mean 28.3 cm) than in NSGHD patients (mean 23.6 cm).
During the first five years of rhGH therapy, regular cardiological and haematological check-ups were performed, leading to the conclusion that rhGH therapy was safe.
In conclusion, pre-pubertal NS children with GHD slightly increased their height and growth rate during the first years of GH therapy, although the response to rhGH treatment was significantly lower than IGHD children. Furthermore, the therapy appeared to be safe since no severe adverse effects were reported, at least during the first five years. However, a close follow-up of these patients is mandatory, especially to monitor cardiac function.
PMCID: PMC4595189  PMID: 26444854
Noonan syndrome; Children; Recombinant human growth hormone therapy; Short stature
4.  Teachers of various school grades and representations of epilepsy: problems, relational aspects and perspectives of life quality 
The analysis of the representations of the health of their students by teachers is key to the understanding of the attitudes and behaviors that, in general, take place inside the school community and the educational processes. In fact, social attitudes by teachers and individual within the school environment are often the result of simple categorization and stereotypes, which hinder the process of evolutionary change.
On these premises it was necessary to investigate the level of knowledge of the epilepsy syndrome, the representations by a group of teachers of the quality of life of people with epilepsy and the representations of the interpersonal relationships between students with epilepsy and their classmates.
We used an ad hoc questionnaire, with 33 multiple choice answers, focusing on these variables: work seniority, experience with epileptic students, special education or main teacher.
The sample consisted of 113 female teachers with a mean age of 44.4.
There aren’t significant differences between the answers of special education and main teachers: a) teachers with work seniority > 11 years showed a more than adequate knowledge of information about epilepsy. Moreover, in case of seizure in the classroom, first aid is to call an ambulance rather than administering rescue drugs; b) teachers, who have had a real experience, represent the epileptic student as more limited in the possibilities of getting married, having children, finding a job, and practising a sport; c) teachers, who have had a student with epilepsy don’t report interpersonal relationships with his/her classmates as being difficult. Moreover, they claim to have inadequate knowledge of the educational strategies needed to integrate the epileptic student with his/her classmates; d) there are some different answers for primary school teachers and for secondary school teachers.
Teachers demonstrate inaccurate information about epilepsy, its impact in educational contexts and management of seizures in the classroom. Also, critical areas have emerged indicating efforts should focus on education, sharing the role of teacher, awareness and integration in the class group.
PMCID: PMC4595060  PMID: 26437951
Concepts; Representations; Teachers; Epilepsy
5.  Italian guidelines for the management and treatment of neonatal cholestasis 
Hyperbilirubinemia is a frequent condition affecting newborns during the first two weeks of life and when it lasts more than 14 days it is defined as prolonged jaundice. This condition requires differential diagnosis between the usually benign unconjugated hyperbilirubinemia and the pathological conjugated hyperbilirubinemia, that is mainly due to neonatal cholestasis. It is important that the diagnosis of neonatal cholestasis be well-timed to optimize its management, prevent worsening of the patient’s outcome, and to avoid premature, painful, expensive, and useless tests. Unfortunately, this does not always occur and, therefore, the Task Force on Hyperbilirubinemia of the Italian Society of Neonatology presents these shared Italian guidelines for the management and treatment of neonatal cholestasis whose overall aim is to provide a useful tool for its assessment for neonatologists and family pediatricians.
PMCID: PMC4591626  PMID: 26428285
Jaundice; Conjugated hyperbilirubinemia; Cholestasis; Infant
6.  Femicide and murdered women’s children: which future for these children orphans of a living parent? 
To assess the prevalence of femicides in Italy over the last three years and the potential long lasting effects of these traumatic events for the children of a woman who dies a violent death.
The data used in this study come from an internet search for the number of femicides occurring in Italy between 1st January, 2012 and 31st October, 2014.
The total number of femicides was 319; the average age of murdered women was 47.50 ± 19.26. Cold arms in the form of sharp object -mostly knives- have caused the death of 102/319 women; firearms were used in 87/319 cases; asphyxiation was the chosen method in 52/319 cases. About the place where the femicides occurred, 209/319 were committed inside the victim’s house. Children of women who died a violent death were 417 with a total of 180 minors in less than three years. A total of 52/417 children were witness to the killing and, among these 30/52 were minors; in 18/417 cases, children were murdered together with their mother and among these 9/18 were minors.
Long-term studies are needed to ascertain what happens to these children, to understand what are the most appropriate psychological treatments, the best decisions about the contact with their father and the best placement for these children.
PMCID: PMC4587811  PMID: 26416660
Femicide; Intimate partner; Children; Treatment; Psychological
7.  Nocturnal enuresis: prevalence and risk factors among school-aged children with sickle-cell anaemia in a South-east Nigerian city 
Sickle-cell anaemia (SCA) is the most common inherited haemoglobinopathy affecting the Negroid race. Renal complications such as enuresis can occur during childhood. Reports show that children and adolescents with SCA may be at a higher risk of nocturnal enuresis than their counterparts with normal haemoglobin genotype.
The study aims to determine the prevalence of nocturnal enuresis and possible risk factors among school-aged children with SCA in a South-east Nigerian city.
A hospital-based and cross-sectional descriptive study of 70 school-aged children with SCA who met the study criteria, and 70 age- and sex-matched controls with normal haemoglobin genotype was conducted in the Paediatric Sickle-cell Anaemia Clinic of the University of Nigeria Teaching Hospital (UNTH) Enugu. Data was subjected to multivariate analysis using logistic regression model with nocturnal enuresis as the dependent variable and the possible risk factors as the independent variables.
The prevalence of nocturnal enuresis among the Subjects and the Controls was 31.4 and 21.4 % respectively (p = 0.180). It was significantly higher among male Subjects (48.7 %) than among male Controls (23.1 %) [OR (95 % CI) =8.14 (2.12–31.24), p < 0.001]; and among Subjects whose parents had a childhood history of enuresis [OR (95 %) =10.39 (2.45–44.05), p = 0.002]. The difference in the prevalence of enuresis in the female cohort was however not significant.
Children with SCA have a tendency to develop nocturnal enuresis when compared to their non-affected counterparts. Male gender and parental childhood history of nocturnal enuresis are potential socio-demographic risk factors.
PMCID: PMC4587835  PMID: 26416787
Sickle-cell anaemia; Nocturnal enuresis; Prevalence; Risk factors; School-aged children
8.  Potential causes of sudden cardiac death in nemaline myopathy 
PMCID: PMC4587851  PMID: 26416716
Non-compaction; Cardiomyopathy; Myopathy; Cardiac involvement; Sudden cardiac death; Ventricular arrhyhtmias
9.  Cranial ultrasound findings in late preterm infants and correlation with perinatal risk factors 
Late preterm infants are the most represented premature babies. They are exposed to a wide spectrum of brain lesions which are often clinically silent, supporting a possible role of cerebral ultrasound screening. Aim of the study is to describe the pattern of cranial ultrasound abnormalities in late preterm infants and to define the need for cranial ultrasound according to perinatal risk factors.
A hospital-based cranial ultrasound screening was carried out by performing two scans (at 1 and 5 weeks). Unfavorable cranial ultrasound at 5 weeks was defined as either persistent periventricular hyperechogenicity or severe abnormalities.
One thousand one hundred seventy-two infants were included. Periventricular hyperechogenicity and severe abnormalities were observed in, respectively, 19.6 % and 1 % of late preterms at birth versus 1.8 % and 1.4 % at 5 weeks. Periventricular hyperechogenicity resolved in 91.3 %. At the univariate analysis gestational age (OR 0.5, 95 % CI 0.32-0.77), Apgar score <5 at 5’ (OR 15.3, 1.35-173) and comorbidities (OR 4.62, 2.39-8.98) predicted unfavorable ultrasound at 5 weeks. At the multivariate analysis the accuracy in predicting unfavorable ultrasound, estimated by combined gestational age/Apgar/comorbidities ROC curve, was fair (AUC 74.6) and increased to excellent (AUC 89.4) when ultrasound at birth was included.
Gestational age and comorbitidies are the most important risk factors for detecting brain lesions. The combination of being born at 34 weeks and developing RDS represents the strongest indication to perform a cranial ultrasound. Differently from other studies, twin pregnancy doesn’t represent a risk factor.
PMCID: PMC4581101  PMID: 26400481
Late preterm infant; Cranial ultrasound; Brain injury; Perinatal risk factors
10.  Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report 
Preterm infants are at risk for neurodevelopmental sequelae even in absence of major cerebral lesions. The hypothesis that Human Recombinant Erythropoietin (rEpo) could improve the neurodevelopmental outcome in risk neonates has raised the highest interest in recent years.
A group of preterm neonates born at a gestational age ≤ 30 weeks and free from major cerebral lesions or major visual impairment, were included in the study if they had a complete neurologic evaluation for at least 24 months of postmenstrual age. They were assigned to group I in the case they had been treated with rEpo or group II if untreated. The aim was to evaluate whether rEpo, given at the high cumulative doses utilized for hematologic purposes, is able to improve the neurodevelopmental outcome in preterm infants born at a gestational age ≤ 30 weeks. A group of 104 preterm neonates were studied: 59 neonates who received rEpo for 6.9 ± 2.4 weeks at a median cumulative dose of 6300 UI/Kg (6337 ± 2434 UI/Kg), starting at a median age of 4 days and 45 neonates who were born in the period preceding the routine use of rEpo. The neurodevelopmental quotient at 24 month postmenstrual age was assessed utilizing the Griffiths’ Mental Developmental Scales.
Our results failed to show any difference in the Developmental Quotient at 24 month. Bronchopulmonary dysplasia, minor intraventricular hemorrhages and blood transfusions were the clinical features significantly related to the Developmental Quotient.
Our results do not support the hypothesis that rEpo, administered with the schedule utilized for hematologic purposes, improve the neurodevelopmental outcome of preterm neonates, at least those preterm infants free from major impairments.
PMCID: PMC4574078  PMID: 26376632
11.  Comparative outcome analysis of home-initiated non-medical interventions among toddlers with orally ingested substances 
Poison management guidelines recommend contacting or visiting poison centers directly after exposure. However, some parents initiated non-medical interventions on their children before visiting these centers. Aim was to evaluate the clinical and hospital outcomes of such practices among toddlers with orally ingested medication or chemical substances at a tertiary care facility.
Retrospective cohort, based on four-arm outcome analysis. Exposures were gender, age, body mass index, arrival time to facility (hours) presented in Median [Interquartile range]. Clinical outcomes were vital signs, physical examination, diagnostic tests; Hospital outcomes were in-hospital admission, length of hospital stay (hours) presented in Median [Interquartile range], hospital cost ($US). Bivariate analysis (nonparametric tests), binary logistic/linear regression were conducted. Significance at p < 0.05.
Between 2009–2011, 165 (all previously healthy) toddlers were (Males = 58 %, females = 42 %) and had normal weights in 70 %. Witnessed incidents were in 85 %. Two control groups [Medication (control) = 72, Chemical (control) = 48] directly visited the facility after incident, while two intervention groups [Medication (intervention) = 27, Chemical (intervention) = 18] received orally administered water, salt/sugar solutes, milk/yogurt, lemon juice and/or manually induced vomiting before the visit. Abnormal clinical outcomes in total were in vital signs = 15 %, physical examination = 42 % and diagnostic tests = 26 %; hospital outcomes were admission = 16 %, length of stay range (2 hours–7.5 days), cost range (667–11,500). Bivariate analysis: Length of stay in Medication (intervention) = 9[5.4–12.0] hours significantly higher than Medication (control) = 5[2.7–7.5] hours, p = 0.003; abnormal physical examination in Chemical (intervention) = 77.8 % significantly higher than Chemical (control) = 37.5 %, p = 0.004. In regression: intervention significantly increased length of stay (t = 0.213, adj. P = 0.035); lower weight toddlers were at higher risk of admission (Beta = -0.51, adj. P = 0.018); delayed arrival time significantly increased abnormal physical examination (Beta = 0.29, adj. P = 0.003). No significant control/intervention group differences regarding abnormal vital signs (adj. P = 0.148), physical examination (adj. P = 0.781), diagnostic tests (adj. P = 0.285), admission (adj. P = 0.499), and cost (adj. P = 0.102).
Home-initiated non-medical interventions didn't improve the clinical and hospital outcomes. It has delayed the arrival time to emergency department, which added the risk of encountering abnormal physical examination, and in return increased the average length of hospital stay.
PMCID: PMC4570254  PMID: 26373531
12.  Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature 
The adrenocortical rest tumours are the very rare entity in the pediatric population. They are usually found along the gonadal descent paths (celiac axis, the broad ligamen, the adnexa of the testes or the spermatic cord). They have been also described to occur at rare ectopic sites like intracranial locations, placenta, kidney, pancreas and liver.
Clinical case
Here we present a unusual case of an ectopic, virilising, primary adrenocortical tumour localized in the spinal region in a 8 years-old-boy.
This is the first case of functional ectopic, adrenocortical tumour localized in the spinal region in a pediatric population. We discuss here the clinical presentation and the diagnostic challenges and provide the review of the literature.
PMCID: PMC4557221  PMID: 26329697
13.  The effect of the facilitated tucking position in reducing vaccination-induced pain in newborns 
This study was conducted to evaluate the pain perceptions of newborns during the hepatitis B (HBV) vaccinations performed in the facilitated tucking position and the classical holding position, respectively.
The randomized controlled experimental study was conducted between 1 September 2014 and 30 December 2014 at the neonatal intensive care unit of a Turkish university hospital. One group of infants was held in the facilitated tucking position (the treatment group; n = 30) during HBV vaccination; infants in the other group were held in the classical holding position (the control group; n = 30) during HBV vaccination. The Neonatal Infant Pain Scale (NIPS) scores of the infants in the treatment and control groups were compared during procedure. Also, the infants’ physiological parameters were compared before, during, and after the procedure. Descriptive statistics, a chi-square test, and an independent samples t-test were used to assess the data.
The mean pain scores of infants vaccinated in the facilitated tucking position (2.83 ± 1.18) were significantly statistically lower than the scores of infants vaccinated in the classical holding position (6.47 ± 1.07) (p < 0.05).
The pain perceptions of newborns held in the facilitated tucking position during HBV vaccination were lower. The facilitated tucking position, a non-pharmacological method, is recommended as an effective and useful method for reducing pain during the procedure.
PMCID: PMC4546124  PMID: 26293573
14.  Italo-Swiss “Chalk and blackboard interactive 2-day workshop”—participants feedback 
Ten “chalk and blackboard interactive workshops” have taken place between 2011 and 2015 in Southern Switzerland or Italy. Students, residents and expert pediatricians meet during 2 days and discuss 10–15 cases. Pediatricians promote reasoning, provide supporting information and correct statements. Emphasis is placed on history taking and examination, and on all participants being involved in a stimulating atmosphere. Thirty-seven participants were asked, ≥3 months after workshop-completion, to evaluate the workshop and a recent teaching session. Thirty answered and scored the workshop as excellent (N = 24) or above average (N = 6). The scores assigned to the workshop were higher (P < 0.001) than those assigned to the lecture-based teaching.
PMCID: PMC4545977  PMID: 26289728
Medical education; Problem-based-learning; Case-based learning; Residents
15.  Cost of care and social consequences of very low birth weight infants without premature- related morbidities in Italy 
Aim of this study was to estimate the cost that is borne by the Italian National Health Service, families, and social security due to very low birth weight infants (VLBWIs) without prematurity-related morbidities up to the age of 18 months. We followed up on 150 VLBWIs and 145 comparable full-term infants (FTIs) who were born in one of 25 different neonatal intensive care units upon discharge from the hospital and at six and 18 months of age. The average length of the primary hospitalisation of the VLBWIs was 59.7 days (SD 21.6 days), with a total cost of €20,502 (SD €8409), compared with three days (SD 0.4 days) with a total cost of €907 (SD €304) for the FTIs. The total societal cost of the VLBWIs for the first 18 months of life was €58,098 (SD €21,625), while the corresponding figure for FTIs was €24,209 (SD €15,557). Among VLBWIs, both low birth weight and gestational age were correlated with the length of hospitalisation after birth (r2 = 0.61 and r2 = 0.57, respectively; p values < 0.0005). Our findings highlight that the existing DRGs and tariffs inadequately reflect the actual costs for Italian National Health Service.
PMCID: PMC4545779  PMID: 26286526
16.  Risk factors for celiac disease 
Celiac Disease (CD) is an immune-mediated systemic disorder elicited by gluten and related prolamines in genetically susceptible individuals and it is the result of the interaction between genetic and environmental factors. Among genetic risk factors, the strongest association is with the HLA class II DQ region; nevertheless at least 39 non-HLA loci are associated with CD. Gluten is the main environmental trigger of the disease. In addition, infant feeding and weaning practices as well as timing of gluten introduction in the diet have been suggested to contribute to CD risk. Furthermore a role for infectious agents and microbiota composition in disease development has also been proposed.
Aim of this short review is to discuss the current knowledge on both genetic and environmental risk factors for the development of CD; moreover we will provide a brief overview of the possible strategies that could be envisaged to prevent this condition, at least in the population at-risk.
PMCID: PMC4535670  PMID: 26268374
17.  From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis 
Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic cystadenomas and epididymal cystadenomas have been diagnosed in males and cystadenomas of the broad ligament of the uterus have been diagnosed in females.
The following paper presents the diagnostic way in a boy with vision disorders as the first symptom. Hypertension retinopathy and extremely elevated blood pressure were observed during ophthalmologic consultation. Complications of arterial hypertension were confirmed by echocardiography, which diagnosed hypertension cardiomyopathy. Hypertension retinopathy was confirmed by optical coherence tomography. Examinations performed in the neurology, cardiology, and finally endocrinology indicated a bilateral phaeochromocytoma as the cause of arterial hypertension. Moreover, some genetic investigations showed a mutation in the VHL ex.1 p.Y112 C gene responsible for the hereditary form of phaeochromocytoma which confirmed von Hippel-Lindau syndrome. After surgical treatment of phaeochromocytoma the patient needed careful management according to the surveillance protocol for von Hippel-Lindau disease.
PMCID: PMC4535675  PMID: 26268347
Arterial hypertension; Pheochromocytoma; von Hippel-Lindau syndrome
18.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes 
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.
Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.
A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.
PMCID: PMC4526284  PMID: 26242548
19.  Methicillin-resistant Staphylococcus aureus mandibular osteomyelitis in an extremely low birth weight preterm infant 
Methicillin-resistant Staphylococcus aureus (MRSA) is an established nosocomial pathogen with frequent multidrug resistance. The immaturity of the immune system along with intravascular lines and empirical antibiotic treatments place hospitalized preterm infants at major risk of MRSA infection.
We report a case of MRSA mandibular osteomyelitis complicating a persistent S. aureus bacteremia in a 23-week preterm infant. From the first weeks of life, the infant showed recurrent C-reactive protein (CRP) elevation, associated with S. aureus bacteremia. Antibiotic courses, including vancomycin and linezolid, were performed with transitory normalization of blood parameters. On day 74, the infant suddenly deteriorated and showed a significant increase of both CRP and procalcitonin. Empiric vancomycin and piperacillin-tazobactam treatment was started; nevertheless, she developed a progressive hard swelling of neck and mandible. Radiological evaluation revealed a mandibular osteomyelitis complicated by an abscess, whose culture grew MRSA. Vancomycin was thus changed to teicoplanin and complete clinical and radiological healing was gradually achieved.
In the presence of major risk factors, persistent bacteremia and nonspecific symptoms, a localized focus of infection should be suspected. Microbiological diagnosis should always be attempted and antibiotic treatment should be guided by both susceptibility results and clinical response.
PMCID: PMC4523912  PMID: 26239708
20.  Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? 
Osteochondroma generally occurs as a single lesion and it is not a heritable disease. When two or more osteochondroma are present, this condition represents a genetic disorder named hereditary multiple exostoses (HME). Growth hormone deficiency (GHD) has rarely been found in HME patients and a few data about growth therapy (GH) therapy effects in development/growth of solitary or multiple exostoses have been reported.
Case presentation
We describe the clinical features of 2 patients (one with osteochondroma and one with HME) evaluated before and after GH therapy. In the first patient, the single osteochondroma was noticed after the start of treatment; the other patient showed no evidence of significant increase in size or number of lesions related to GH therapy.
It is necessary to investigate GH secretion in patients with osteochondroma or HME and short stature because they could benefit from GH replacement therapy. Moreover, careful clinical and imaging follow-up of exostoses is mandatory.
PMCID: PMC4524199  PMID: 26239617
21.  Analysis of hospitalizations due to intussusception in Sicily in the pre-rotavirus vaccination era (2003–2012) 
Intussusception is the most common cause of bowel obstruction in infants with an incidence ranging from 9–328 cases per 100,000 infants aged 0–11 months. Causes underlining this clinical manifestation are still unknown. Possible relationship with a withdrawn tetravalent rotavirus vaccine was not confirmed by post-licensure studies and actually no increased risk of intussusception was found between infants vaccinated with both the recently licensed rotavirus vaccines. Aim of this study is to analyze the intussusception hospitalizations in Sicily from 2003 to 2012 before the introduction of rotavirus universal vaccination and its possible relation with rotavirus gastroenteritis trend.
Were collected data from hospital discharge records occurred from 1st January 2003 to 31st December 2012 in Sicily.
Intussusception cases were defined as all hospitalizations with an ICD-9-CM code of 560.0 on any discharge diagnoses. As a proxy for the severity of cases were considered ICD-9-CM procedure codes accounting for surgical or radiologic reduction.
A total of 340 intussusception cases were hospitalized in Sicily from 2003 to 2012 in children aged 0–59 months. 46.8 % occurred in the age class 0–11 months.
Hospitalization rate for intussusception was 11.4 cases per 100,000 per year (32.6 cases per 100,000 among 0–11 months children; 7.3 cases per 100,000 among 12–59 months children), with a M:F sex ratio of 1.8.
During hospitalization only 25 % of intussusceptions had a spontaneous resolution, 56.5 % of cases required a surgical intervention.
From 2003 to 2012 intussusception cases were equally distributed during the year without any seasonality, while gastroenteritis hospitalizations due to rotavirus infection have a typically late winter and spring distribution.
In Sicily from 2003 to 2012 hospitalizations due to intestinal invagination were higher among children aged 0–11 months with observed rates similar to other European countries. Regional baseline data analysis of intussusception among 0–59 children is recognized as an evidence-based public health strategy by international health authorities. Indeed, this strategy is necessary to compare any post-licensure age or sex-related change in intussusception trend after universal rotavirus vaccination introduction.
PMCID: PMC4522101  PMID: 26232152
Intestinal invagination; International classification of diseases; Hospitalization rates; Rotavirus gastroenteritis; Seasonality
22.  Nutritional status of adolescents with cystic fibrosis treated at a reference center in the southeast region of Brazil 
Several factors can interfere with the full physical and emotional growth of adolescents, among them chronic diseases. The aim was to determine the nutritional status of adolescents and to associate it with puberty, pancreatic sufficiency, lung function and age range of Cystic Fibrosis (CF) diagnosis.
An observational, cross-sectional, retrospective and analytical study was conducted using the data of medical records. Setting: Reference center in the northeastern region of the state of São Paulo – Brazil. Patients: All adolescents with CF attended in 2010 were included. Some variables included: pancreatic sufficiency (steatocrit >2 %), pancreatic enzymes replacement (yes/no), pubertal status-Tanner criteria (prepubertal: M1/G1, pubertal: M2/G2 to M4/G4, postpubertal: M5/G5), age at CF diagnosis (<2 and ≥2 years of age), Lung function, measured as a predicted forced expiratory volume in 1 s (FEV1). Main outcome measures Nutritional indicators: body mass index for age (BMI/A) and height for age (H/A) with z-score calculated with Anthro Plus software. Cut-off reference points: ≥ z-score −3 and < z-score −2 (thinness); z-score −2 and ≤ z-score-z +1 (normal weight); >z-score +1 (overweight or obesity), and z-score <−2 (low or very low H/A). The groups were compared by the Kruskal-Wallis test. Level of significance: p < 0.05.
Thirty adolescents. Median (min;max)  age: 14.4 (10.1;19.8) years. BMI/A and H/A z-score, respectively: early diagnosis of CF (−0.8; −1.1) or late diagnosis of CF (−0.5;-0.8); with pancreatic insufficiency (−0.7; −0.8) or without pancreatic insufficiency (−0.8; −0.5) and prepubertal (−0.8; −0.7) pubertal (−0.2; −1.5) or postpubertal (−0.7; -0.5). No significant difference (p > 0.05) was observed. Patients with and without pancreatic insufficiency, presented H/A borderline z-score (p = 0.05). Association between H/A and FEV1 was borderline (p = 0.05).
Adolescents presented adequate nutritional status, although with slightly lower values than those of developed countries. FEV1 lower levels occurred more frequently in adolescents with low H/A.
PMCID: PMC4520093
Cystic fibrosis; Nutritional status; Adolescent; Puberty; Pancreatic insufficiency
23.  48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome 
Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed.
Case presentation
Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid’s apex.
Considering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients.
PMCID: PMC4501294  PMID: 26168786
Cranio-cervical junction; Klinefelter syndrome; Fraccaro syndrome; Sex chromosomal aneuploidies; X chromosome
24.  Efficacy of acupuncture in children with asthma: a systematic review 
We performed a systematic review of the efficacy of various types of acupuncture in the treatment of asthma in children.
We searched the MEDLINE, Embase, and Cochrane Library databases up to October 20, 2014. Randomized controlled trials (RCTs) of children and adolescents (<18 years of age) with asthma were included. Data extraction was applied, and methodologic quality was assessed.
A total of 32 articles were assessed for eligibility, and seven studies comprising 410 patients were included in the systematic review. Two RCTs showed significant improvement in peak expiratory flow (PEF) variability for acupuncture (traditional and laser) vs. control, with one showing significant improvement in asthma-specific anxiety level, but no significant differences in other lung function parameters or quality of life. Another RCT reported significant benefits of laser acupuncture on lung function parameters but did not describe or report statistical analyses. One crossover RCT showed significant improvements in response to both acupuncture and placebo acupuncture, with better improvements with acupuncture compared to placebo acupuncture (forced exhaled volume in 1 s [FEV1], PEF). Two additional crossover RCTs showed no significant differences between single sessions of laser acupuncture and placebo acupuncture on baseline, postacupuncture, and postinduced bronchoconstriction values (% predicted FEV1, maximum expiratory flow). A recent study showed a significant effect of acupuncture paired with acupressure on medication use and symptoms in preschool-age children. Methodologic and reporting variability remains an issue. However, the results suggest that acupuncture may have a beneficial effect on PEF or PEF variability in children with asthma.
The efficacy of acupuncture on other outcome measures is unclear. Large-scale RCTs are needed to further assess the efficacy of acupuncture in the treatment of asthma in children.
PMCID: PMC4491888  PMID: 26149519
Acupuncture; Asthma; Child; Systematic review
25.  Suicide in pediatrics: epidemiology, risk factors, warning signs and the role of the pediatrician in detecting them 
Epidemiological data suggests suicide is uncommon in childhood but becomes an extremely serious issue among adolescents.
Several risk factors have been identified and include the presence of psychiatric illness, a previous suicide attempt, family factors, substance abuse, sexual and physical abuse, disorders in gender identity or bullying. Pediatricians have a primary role in searching for these risk factors, recognizing them and acting synergistically with other specialists to prevent and treat suicidal behavior.
Pediatricians should also be able to identify the “warning signs” for suicide since their presence implies a need for immediate action, as attempted suicide may occur in a few hours or days.
The use of antidepressant drugs and its association with suicidal risk in pediatric age is another topic of ongoing debate. Food and Drug Administration has recently introduced the so-called “black box” on antidepressants’ packages with the aim of gaining attention to the possible risk of suicide among adolescents who are treated with antidepressants, with a warning that the risk of suicide is higher when starting a therapy or while adjusting its dosage.
PMCID: PMC4494780  PMID: 26149466
Suicide; Risk factors; Protective factors; Warning signs; Antidepressive drugs

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