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1.  Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity 
Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.
PMCID: PMC3974180  PMID: 24646511
Glycogen storage disease 1b; Autoimmunity; Thyroiditis; Growth hormone deficiency; Inflammatory bowel disease
2.  Retraction: Infantile colic, facts and fiction 
PMCID: PMC3973963  PMID: 24618350
3.  Pilot observational study on haemodynamic changes after surfactant administration in preterm newborns with respiratory distress syndrome 
Surfactant treatment reduces respiratory morbidity and mortality in preterm infants. Data on its haemodynamic consequences are conflicting. The aim was to characterise the haemodynamic effects of surfactant treatment on cardiac function in preterm newborns with respiratory distress syndrome (RDS).
Preterm infants (gestational age <34 weeks, birth weight <2000 g) with RDS, who received surfactant within 72 hours of life, were recruited.
Echocardiography was performed before surfactant, and 2 and 24 hours after. Left and right ventricular peak systolic, early diastolic and late diastolic myocardial velocities were measured using Tissue Doppler Imaging (TDI), while characteristics of the ductus arteriosus, pulmonary artery pressure, right ventricular (RVO) and left ventricular output were measured by standard echocardiography. Tricuspidal Annular Plane Systolic Excursion (TAPSE) was measured on the free wall of the tricuspid annulus.
Fourteen patients were studied. Surfactant was associated with a decrease in pulmonary pressure and an increase in RVO. The improvement of right ventricular function was also confirmed by a significant increase in right peak systolic velocity and in TAPSE. Left ventricular velocities did not change significantly after surfactant.
Surfactant administration in preterm infants with RDS did not impair myocardial contractility and was followed by increased RVO, in agreement with other parameters of right ventricular function. TDI and TAPSE appeared to be reliable and feasible in this population. The addition of TDI and TAPSE to standard neonatal echocardiography may provide additional information about cardiac function.
PMCID: PMC3984744  PMID: 24594243
Echocardiography; Preterm infant; Surfactant; Tissue doppler imaging; Tricuspidal annular plane systolic excursion
4.  Kawasaki disease in a girl with turner syndrome: a remarkable association 
We describe a girl with Turner syndrome, a genetic disorder of the X chromosome in a phenotypic female at increased risk of autoimmune and immunological diseases, who developed Kawasaki disease at the age of four years.
Given the possible relationship between these two disorders, we recommend suspecting Kawasaki disease in patients with Turner syndrome who present with persistent fever of unknown origin and who are not responsive to antibiotic therapy. Attention should be given to this phenomenon, as patients with Turner syndrome are themselves at higher risk of cardiovascular defects. Further studies are needed to better clarify this issue.
PMCID: PMC3944673  PMID: 24580845
5.  Epidemiology of Toxoplasma and CMV serology and of GBS colonization in pregnancy and neonatal outcome in a Sicilian population 
Aim of our study is to analyze the immunological status in pregnancy for two main TORCH agents, Toxoplasma and Cytomegalovirus (CMV), and the results of group B streptococcus (GBS) screening, assessing the risk for congenital infection in a population from Palermo, Italy.
We retrospectively analyzed the medical records of all inborn live newborns who were born in our division during 2012, gathering information about the mother, the pregnancy and neonatal hospitalization at birth. Whenever data were available, we categorized the serologic status of the mothers for Toxoplasma and CMV. We also considered the results of rectal and vaginal swabs for GBS. We compared the results in Italian and immigrant mothers. The neonatal outcome was evaluated in all cases at risk.
Prevalence of anti-Toxo IgG antibodies was 17.97%, and was significantly higher in immigrant women (30% vs 16.4% in Italian women; p = 0.0008). Prevalence of anti-CMV IgG antibodies was 65.87%. Again, it was significantly higher in immigrant women (91.4% vs 62.5%, p = 3.31e-08). We compared those data with a previous study performed in our hospital in 2005–2006, and found that the prevalence of anti-Toxoplasma and anti-CMV antibodies in our population has remained stable, both in the immigrant and in the local population. Seroconversion rates and neonatal infections were rare: no seroconversions were observed for Toxoplasma, 4 seroconversions for CMV. One neonatal Toxoplasma infection and two neonatal CMV infections were documented. In some cases with dubious patterns or probable persistence of IgM, we performed additional tests and follow-up. Vaginal and rectal swabs were positive for GBS in 7.98% of cases, with no significant difference between the Italian and the immigrant population. No GBS neonatal sepsis was documented.
The prevalence of Toxoplasma IgG antibodies in pregnant women was low in our population, if compared with European countries and with other parts of Italy, and is significantly higher in immigrant women. The prevalence of CMV IgG antibodies was intermediate if compared to other countries, and it was higher in immigrant women. GBS positivity was low, and comparable in Italian and immigrant mothers. Neonatal infection was rare for all these agents.
PMCID: PMC3936856  PMID: 24559197
Epidemiology; Toxoplasma; CMV; GBS; Intrauterine infection
6.  Glutathione S transferase theta1 and mu1 gene polymorphisms and phenotypic expression of asthma in Egyptian children: a case–control study 
Asthma is the result of a complex interaction between environmental factors and genetic variants that confer susceptibility. The glutathione S-transferases (GSTT1 and GSTM1) are phase II enzymes thought to protect the airways from oxidative stress. Few and contradictory data are available on the association between asthma development and GSTT1 and GSTM1 polymorphisms in different ethnic groups. The current study aimed to investigate whether these polymorphisms are associated with asthma development in the Egyptian population.
The cross-sectional study was performed on 94 asthmatic children 6 -12 yrs and 90 matched healthy controls. Candidates were subjected to clinical evaluation and measurement of absolute blood eosinophilic count, total serum IgE, and GSTT1 and GSTM1 genotype by multiplex PCR technique.
The results for GSTT1 null genotype were 87.2% and 97.2% for asthmatic children and controls respectively and showed to be significantly more in controls (P =0.007, OR:0.683, CI: 0.034 -0.715). The results for GSTM1 null genotype were 50% and 61.1% for asthmatic children and controls respectively and showed to be nonsignificant (p = 0.130, OR: 1.000, CI: 0.54- 1.86). Also, no association was detected between GSTT1 and GSTM1 polymorphisms and atopic conditions or asthma severity.
The significant detection of GSTT1 null genotype more in controls than in asthmatics with no association with other atopic manifestations or asthma severity and the lack of association detected between GSTM1 polymorphism in relation to asthma, atopy or asthma severity confirm the uncertain role of those genes in the development of asthma.
PMCID: PMC3974057  PMID: 24559168
Asthma; Children; Egyptian; Glutathione S-transferase; Polymorphism
7.  Serum trace elements in obese Egyptian children: a case–control study 
To date, only a few studies on child obesity concerned Trace Elements (TE). TE is involved in the pathogenesis of obesity and obesity related diseases. We tried to assess trace elements status [zinc (Zn), copper (Cu), selenium (Se), iron (Fe), and chromium (Cr)] in obese Egyptian children and their relationships with serum leptin and metabolic risk factors of obesity.
This was a case–control study performed with 80 obese children (BMI ≥ 95thcentile for age and gender) and 80 healthy non-obese children with comparable age and gender as the control group. For all subjects, serum Zn, Cu, Se, Fe, ferritin and Cr as well as biochemical parameters including lipid profile, serum glucose and homeostasis model assessment of insulin resistance (HOMA-IR) were assessed. Levels of serum leptin were measured by (enzyme-linked immunosorbent assay [ELISA] method), and serum insulin was measured by an electrochemiluminesce immunoassay.
Compared to the control group, serum Zn, Se, and Fe levels were significantly lower (all P < 0.01) and serum Cu level was significantly higher (P < 0.01) in the obese children. Meanwhile, no significant differences were observed in serum ferritin or Cr levels (P > 0.05). A significant negative correlation was found between serum leptin and zinc levels in the obese children (r = −0.746; P < 0.01). Further, serum Zn showed significant negative correlations with total cholesterol TC levels (P < 0.05) and were positively correlated with high density lipoprotein- cholesterol HDL-C levels (P < 0.01) in the obese children. In addition, serum Se levels showed significant positive correlations with HOMA-IR values in the obese children (P < 0.01).
The obese children may be at a greater risk of developing imbalance (mainly deficiency) of trace elements which may be playing an important role in the pathogenesis of obesity and related metabolic risk factors.
PMCID: PMC3936780  PMID: 24555483
Trace elements; Obesity; Children
8.  Efficacy of paracetamol for the treatment of patent ductus arteriosus in preterm neonates 
Inhibitors of the cyclo-oxygenase component of prostaglandin-H2 synthetase, namely indomethacin and ibuprofen, are commonly used in the treatment of hemodynamically significant patent ductus arteriosus. These drugs are associated with serious adverse events, including gastrointestinal perforation, renal failure and bleeding. The role of paracetamol, an inhibitor of the peroxidase component of prostaglandin-H2 synthetase, has been proposed for the treatment of patent ductus arteriosus. We report a series of 8 neonates (birth weight: 724 ± 173 g; gestational age: 26 ± 2 weeks) treated with paracetamol for a hemodynamically significant patent ductus arteriosus, because of contraindications to ibuprofen or indomethacin. Successful closure was achieved in 6 out of 8 babies (75%). Median ductal diameter was significantly reduced after treatment (from 1.2 mm, range 1.0-2.5 mm to 0.6 mm, range 0.0-2.5 mm, p = 0.038). No adverse or side effects were observed during treatment. On the basis of these results, paracetamol could be considered a promising and safe therapy for the treatment of patent ductus arteriosus in neonates.
PMCID: PMC3940001  PMID: 24555510
Patent ductus arteriosus; Paracetamol; COX-inhibitors; Ibuprofen; Indomethacin
9.  Epidemiological study on behavioural and emotional problems in developmental age: prevalence in a sample of Italian children, based on parent and teacher reports 
The aim of this study is to examine the prevalence of behavioural and emotional problems in a sample of school children living in Campania, a region of South Italy.
The Child Behavior Checklist (CBCL) Parent Report Form (PRF) and the CBCL Teacher Rating Form (TRF) were administered to parents and teachers of a sample of school children aged 8-9 yr.
The subjects (SS) eligible for the study were 3072. In 2137 (69.5%) cases parents returned the envelopes back. 1228 (57.4%) subjects were excluded because of lack of signed consensus, unfilled or incomplete forms. Parents reported children’s behavioural or emotional Total Problems in 14.7% of the SS. (5.2% borderline, 9.5% clinical), Internalizing Problems in 18.5% (8.0% borderline, 10.5% clinical), and Externalizing Problems in 8.5% (3.8% borderline, 4.7% clinical) respectively. At the Competence Scale of CBCL more than 2/3 of the sample show high rate for Total Competence Problem (24.3% borderline, 47.3% clinical.) Teachers reported 8.7% of SS having Total Problems, (4.3% borderline, 4.4% clinical), Internalizing problems were detected in 13.3% of the sample (4.9% borderline and 8.4% clinical), while Externalizing problems were reported for 9.6% of SS (4.1% borderline and 5.5% clinical). In the sub-scale of Academic Performances teachers report a high number of subjects with problems, 18.7%, whose 4.3% had a “borderline” score, and 14.4% had a “clinical” score.
Concerning Total Problems (clinical and borderline SS, 14.7% as reported by parents, 8.7% as reported by teachers) we obtained a prevalence similar to that reported in the rest of the country, with differences in gender (males 13.2%, females 16.0% as reported by parents; males 7.4%, females 9.7% as reported by teachers). The difficulties in social and relationship competencies area were higher (4/10 children). This datum should be cautiously evaluated because the possible inadequacy of CBCL competences scale.
PMCID: PMC3972618  PMID: 24533835
Behavioral problems; CBCL; Emotional well-being
10.  Annual acknowledgement of manuscript reviewers 
Contributing reviewers
The editors of Italian Journal of Pediatrics would like to thank all our reviewers who have contributed to the journal in Volume 39 (2013).
PMCID: PMC3923234
11.  Cytophagic histiocytic panniculitis, hemophagocytic lymphohistiocytosis and undetermined autoimmune disorder: reconciling the puzzle 
Cytophagic histiocytic panniculitis is a rare disease, associated with either nonmalignant conditions or subcutaneous panniculitis-like T-cell lymphoma, and often also associated with hemophagocytic lymphohistiocytosis (HLH). We report the case of a 11-year-old boy with a history of secondary HLH who, after a local trauma, developed a painful, indurated plaque over the right thigh associated with relapsing HLH. Histopathologic findings from skin biopsy specimens revealed significant lobular panniculitis with benign histiocytes showing hemophagocytosis. High-dose intravenous methylprednisolone and cyclosporine A treatment was highly effective. A genetic study after a new, relapsing episode of HLH revealed an heterozygous missense mutation on STX 11 gene inherited from the mother.
PMCID: PMC3974103  PMID: 24524345
Panniculitis; Histiocytes; Hemophagocytosis
12.  Management of plastic bronchitis with nebulized tissue plasminogen activator: another brick in the wall 
Plastic bronchitis is a rare complication of a variety of respiratory diseases and congenital heart disease surgery, particularly Fontan procedure. Bronchial casts with rubber-like consistency develop acutely and may cause severe life-threatening respiratory distress. The management of plastic bronchitis is yet not well defined. Early intermittent, self-administered nebulization of tissue plasminogen activator was found to be effective in preventing deterioration of acute respiratory symptoms in a patient with primary ciliary dyskinesia and recurrent cast formation. Further investigation into new therapeutic strategies for this devastating disease is advocated.
PMCID: PMC3974171  PMID: 24524376
Plastic bronchitis; Tissue plasminogen activator; Primary ciliary dyskinesia
13.  Empirical examination of the indicator ‘pediatric gastroenteritis hospitalization rate’ based on administrative hospital data in Italy 
Awareness of the importance of strengthening investments in child health and monitoring the quality of services in the pediatric field is increasing. The Pediatric Quality Indicators developed by the US Agency for Healthcare Research and Quality (AHRQ), use hospital administrative data to identify admissions that could be avoided through high-quality outpatient care. Building on this approach, the purpose of this study is to perform an empirical examination of the ‘pediatric gastroenteritis admission rate’ indicator in Italy, under the assumption that lower admission rates are associated with better management at the primary care level and with overall better quality of care for children.
Following the AHRQ process for evaluating quality indicators, we examined age exclusion/inclusion criteria, selection of diagnostic codes, hospitalization type, and methodological issues for the ‘pediatric gastroenteritis admission rate’. The regional variability of hospitalizations was analyzed for Italian children aged 0–17 years discharged between January 1, 2009 and December 31, 2011. We considered hospitalizations for the following diagnoses: non-bacterial gastroenteritis, bacterial gastroenteritis and dehydration (along with a secondary diagnosis of gastroenteritis). The data source was the hospital discharge records database. All rates were stratified by age.
In the study period, there were 61,130 pediatric hospitalizations for non-bacterial gastroenteritis, 5,940 for bacterial gastroenteritis, and 38,820 for dehydration. In <1-year group, the relative risk of hospitalization for non-bacterial gastroenteritis was 24 times higher than in adolescents, then it dropped to 14.5 in 1- to 4-year-olds and to 3.2 in 5- to 9-year-olds. At the national level, the percentage of admissions for bacterial gastroenteritis was small compared with non-bacterial, while including admissions for dehydration revealed a significant variability in diagnostic coding among regions that affected the regional performance of the indicator.
For broadest application, we propose a ‘pediatric gastroenteritis admission rate’ that consists of including bacterial gastroenteritis and dehydration diagnoses in the numerator, as well as infants aged <3 months. We also suggest adjusting for age and including day hospital admissions. Future evaluation by a clinical panel at the national level might be helpful to determine appropriate application for such measures, and make recommendations to policy makers.
PMCID: PMC3923239  PMID: 24512747
Health services research; Quality of care; Quality indicators; Pediatrics; Gastroenteritis
14.  International Child Health Elective for Pediatric Residents 
There are increasing evidence highlighting the importance of incorporating issues of global health into pre- and post-graduate medical curricula. Medical international cooperation is a fundamental component of strategies to include global health issues in post-graduate medical curricula.
Here we describe a seven-year cooperation between the Non Governmental Organization (NGO) “Doctors for Africa CUAMM” and the Pediatric Residency Program (PRP) of the University of Padua (Italy) that offers residents a well-articulated personalized international child’s health (ICH) elective in Africa, called “Junior Project Officer”. The elective includes: a careful candidate selection process; pre-departure educational course; preceptorship in Padua and Africa, personalized learning objectives, a personalized job description, a six-month hands-on learning experience in Africa, evaluation of the experience, and formal private and open feed-backs/reports.
Between 2006 and 2012, 14 residents aged from 27 to 31 years, six attending the III, nine the IV and two the V year of residency completed the six-month stage in Africa. All worked in pediatric in-patient units; seven also worked in out-patient clinics, six in emergency rooms and seven in community health centers. Eleven were involved in teaching activities and four in clinical research projects. All residents claimed to have achieved their learning objectives.
A strong partnership between the NGO and the PRP, and well-articulated personalized learning objectives and job description contributed to a successful ICH elective.
PMCID: PMC3922587  PMID: 24499625
Pediatrics; Medical education; International cooperation; Global health
15.  Incidence of unlicensed and off-label prescription in children 
Many common drugs have not been licensed for use in children.
This study evaluated the incidence of unlicensed and off-label prescriptions at the Department of Pediatrics during a period of six months. A total of 8,559 prescriptions for 4,282 children were processed.
Off-label and unlicensed prescriptions were found in 9.01% and 1.26% of all prescriptions, respectively. Unlicensed prescriptions were significantly more common in boys (1.5%) than in girls (1.0%) (p = 0.037). There was no significant difference between off-label prescriptions in boys (9.0%) and in girls (9.1%) (p = 0.89). The prescription of unlicensed drugs was significantly more frequent in school age children (p < 0.0001). The most commonly prescribed unlicensed drugs were angiotensin-converting enzyme inhibitors; among off-label drugs, antihistamines and bronchodilators.
This study shows that the incidence of unlicensed and off-label drug prescriptions in our patients is not as high as in other studies.
PMCID: PMC3915231  PMID: 24495454
Prescribing habits; Off-label drug use; Pediatric outpatient clinics
17.  Autoimmune haematological disorders in two Italian children with Kabuki Syndrome 
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of Italian children with autoimmune haematological disorders complicating Kabuki syndrome.
PMCID: PMC3917534  PMID: 24460868
Kabuki syndrome; Immune haemolytic anaemia; Immune thrombocytopenia; Autoimmune haematological disorders; KMT2D; MLL2; KDM6A
18.  Auxology – an editorial 
Auxology (Greek αυξω - I let grow) is the science of human growth and development. Significant public interest focuses on questions like: how does my child grow? How did our ancestors grow? How do other people around the world grow? Are there advantages to being tall and disadvantages to being short? Am I too fat? And many questions are related to the treatment of growth failure.
PMCID: PMC3930903  PMID: 24456842
Auxology; Human growth; Body height; Developmental tempo; Community
19.  Empirical validation of the “Pediatric Asthma Hospitalization Rate” indicator 
Quality assessment in pediatric care has recently gained momentum. Although many of the approaches to indicator development are similar regardless of the population of interest, few nationwide sets of indicators specifically designed for assessment of primary care of children exist. We performed an empirical analysis of the validity of “Pediatric Asthma Hospitalization Rate” indicator under the assumption that lower admission rates are associated with better performance of primary health care.
The validity of “Pediatric Asthma Hospitalization Rate” indicator proposed by the Agency for Healthcare Research and Quality in the Italian context was investigated with a focus on selection of diagnostic codes, hospitalization type, and risk adjustment. Seasonality and regional variability of hospitalization rates for asthma were analyzed for Italian children aged 2–17 years discharged between January 1, 2009, and December 31, 2011 using the hospital discharge records database. Specific rates were computed for age classes: 2–4, 5–9, 10–14, 15–17 years.
In the years 2009–2011 the number of pediatric hospitalizations for asthma was 14,389 (average annual rate: 0.52 per 1,000) with a large variability across regions. In children aged 2–4 years, the risk of hospitalization for asthma was 14 times higher than in adolescents, then it dropped to 4 in 5- to 9-year-olds and to 1.1 in 10- to 14-year-olds. The inclusion of diagnoses of bronchitis revealed that asthma and bronchitis are equally represented as causes of hospital admissions and have a similar seasonality in preschool children, while older age groups experience hospital admissions mainly in spring and fall, this pattern being consistent with a diagnosis of atopic asthma. Rates of day hospital admissions for asthma were up to 5 times higher than the national average in Liguria and some Southern regions, and close to zero in some Northern regions.
The patterns of hospitalization for pediatric asthma in Italy showed that at least two different indicators are needed to measure accurately the quality of care provided to children. The candidate indicators should also include day hospital admissions to better assess accessibility. Future evaluation by a structured clinical panel review at the national level might be helpful to refine indicator definitions and risk groupings, to determine appropriate application for such measures, and to make recommendations to policy makers.
PMCID: PMC3899920  PMID: 24447802
Health services research; Quality of care; Quality indicators; Pediatrics; Asthma
20.  Psychotherapy versus usual care in pediatric migraine and tension-type headache: a single-blind controlled pilot study 
Despite growing interest in psychotherapy in child and adolescent headache, efficacy studies in this research field have focused mainly on cognitive-behavioral therapies. Whereas relaxation and cognitive-behavioral techniques, in particular, have been found to reduce the intensity and frequency of headache in children and adolescents, data on psychodynamic psychotherapy in this population are lacking.
Our aim was to explore the effectiveness of a brief psychodynamic psychotherapy program in the treatment of idiopathic headache in childhood and adolescence.
Thirty-three newly diagnosed idiopathic headache sufferers aged 6–18 years, consecutively referred to our outpatient services, were randomized to receive either a brief cycle of psychodynamic psychotherapy (eight sessions administered at two-week intervals) or usual care (clinical interview, neurological examination, counselling, symptomatic therapy).
The two groups were evaluated at baseline (T0) and at six months (T1) to be assessed for headache characteristics (i.e. frequency, intensity and duration), quality of life (i.e. the EuroQoL score), patient’s global health status (i.e. the Clinical Global Impression score), and emotional-behavioral symptoms (i.e. Child Behavior Checklist scores).
The two groups were fairly similar with reference to the main demographic and clinical variables. The T0/T1 comparison showed a statistically significant improvement in headache frequency (p = 0.005), intensity (p < 0.001) and duration (p = 0.002), a statistically significant improvement in the CGI score (p = 0.018), and a borderline improvement in the EuroQoL score (p = 0.053) in the group receiving psychotherapy.
According to our pilot findings, a brief psychodynamic psychotherapy program may be more effective than usual care in children and adolescents with idiopathic headache.
PMCID: PMC3899919  PMID: 24444140
21.  De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 
Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a 3-year-old girl carrying a de novo 13q13.3-21.32 interstitial deletion. She showed developmental delay, growth retardation and mild dysmorphism including curly hair, high forehead, short nose, thin upper lip and long philtrum. An abnormal mass was surgically removed from her liver resulting in a hemangioendothelioma. Array analysis allowed us to define a deleted region of about 27.87 Mb, which includes the RB1 gene. This is the first report of a 13q deletion associated with infantile hemangioendothelioma of the liver.
PMCID: PMC3896849  PMID: 24433316
RB1; Tumor; Hemangioendothelioma; Liver; Chromosome 13q; Deletion; Syndrome
22.  Late diagnosis of celiac disease in an asymptomatic infant with growth failure 
The clinical spectrum for celiac disease (CD) is broad and includes cases with either typical (intestinal) or atypical (extraintestinal) features, often making the diagnosis of CD very difficult.
We describe the case of a girl presenting with stunted growth and malnourishment. She was evaluated at 14 months for decreased growth rate without any signs of gastrointestinal, renal or endocrine disorders. She was evaluated for CD, but resulted negative for anti-tTG antibodies.
At the age of 4.1 years, she exhibited basal dental enamel hypoplasia, iron deficiency anaemia despite repeated iron supplementation, with persistent reduced height (-2.79 SDS), BMI (-0.76 SDS), growth velocity (-1.79 SDS) and delayed bone age (1.5 year). The CD screening was repeated and very high anti-tTG-IgA (128 IU/ml, normal values < 7 IU/ml) and anti-tTG-IgG (77 IU/ml, normal values < 7 IU/ml) values were found. HLA genotyping revealed an HLA DQ2 haplotype. A duodenal biopsy revealed severe villous atrophy with crypt hyperplasia and increased intraepithelial lymphocytes (> 40 IELs/100 epithelial cells) confirming the diagnosis of CD. A gluten-free diet was started and after only four months, her growth velocity increased from 4.83 cm/year (-1.79 SDS) to 6.53 cm/year (-0.15 SDS).
In conclusion, we report the development of a positive serology for CD in an asymptomatic child with growth retardation, who previously was investigated for CD and resulted negative. Therefore, when faced with retarded growth in young patients, after excluding other malabsorption conditions and even when CD serological markers are negative, the paediatric endocrinologist should request HLA genotyping, before the intestinal biopsy, in order to check for the presence of risk alleles.
PMCID: PMC3896748  PMID: 24428915
Celiac disease; HLA; Malnourishment
23.  Methicillin-resistant Staphylococcus aureus nasal colonization in a department of pediatrics: a cross-sectional study 
We describe methicillin-resistant Staphylococcus aureus (MRSA) nasal carriage at admission in patients admitted to a Department of Pediatrics.
All patients received a nasal swab at admission. A questionnaire was administered and molecular genetics analyses were performed on all identified MRSA isolates.
We enrolled 785 patients, affected with both acute and chronic diseases. MRSA nasal colonization prevalence was 1.15% (CI: 0.5607%-2.093%). Methicillin-sensitive Staphylococcus aureus (MSSA) nasal colonization prevalence at admission was 19.75% (CI 17.07%-22.64%). Only one MRSA isolate carried the SCCmec V variant; all other isolates carried the SCCmecIV variant. Five out of 9 MRSA-colonized patients had an underlying condition. Antibiotic therapy in the previous 6 months was a protective factor for both MRSA (OR 0,66; 95% CI: 0,46-0,96) and MSSA (OR 0,65; 95% CI: 0,45-0,97) colonization. A tendency to statistical significance was seen in the association between hospitalization in the 6 months prior to admission and MRSA colonization at admission (OR 4,92; 95% CI: 0,97-24,83). No patient was diagnosed with an S. aureus infection during hospitalization.
The majority of our MRSA colonizing isolates have community origins. Nevertheless, most MRSA-colonized patients had been hospitalized previously, suggesting that strains that circulate in the community also circulate in hospital settings. Further studies should elucidate the role of children with frequent contact with health care institutions in the circulation of antibiotic resistant strains between the hospital and the community.
PMCID: PMC3896672  PMID: 24410796
Methicillin-resistant Staphylococcus aureus; Nasal carriage; Risk factors
24.  Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report 
Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an echinocandin, combination therapy, or further use of azoles. Posaconazole is a triazole derivative which is effective in Aspergillosis prophylaxis and treatment. Rarely, surgical therapy may be needed in some patients. Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.
Chronic granulomatous disease (CGD) is an inherited immundeficiency caused by defects in the phagocyte nicotinamide adenine dinucleotidephosphate (NADPH) oxidase complex which is mainstay of killing microorganisms. CGD is characterized by recurrent life-threatening bacterial and fungal infections and by abnormally exuberant inflammatory responses leading to granuloma formation, such as granulomatous enteritis, genitourinary obstruction, and wound dehiscence. The diagnosis is made by neutrophil function testing and the genotyping.
Herein, we present a case with CGD who had invasive pulmonary aspergillosis refractory to voriconazole and liposomal amphotericine B combination therapy that was controlled with posaconazole treatment and pulmonary surgery.
PMCID: PMC3914384  PMID: 24401677
Chronic granulomatous disease; Invasive pulmonary aspergillosis; Posaconazole
25.  Nutritional management and follow up of infants and children with food allergy: Italian Society of Pediatric Nutrition/Italian Society of Pediatric Allergy and Immunology Task Force Position Statement 
Although the guidelines on the diagnosis and treatment of food allergy recognize the role of nutrition, there is few literature on the practical issues concerning the nutritional management of children with food allergies.
This Consensus Position Statement focuses on the nutritional management and follow-up of infants and children with food allergy.
It provides practical advices for the management of children on exclusion diet and it represents an evidence-based consensus on nutritional intervention and follow-up of infants and children with food allergy.
Children with food allergies have poor growth compared to non-affected subjects directly proportional to the quantity of foods excluded and the duration of the diet. Nutritional intervention, if properly planned and properly monitored, has proven to be an effective mean to substantiate a recovery in growth.
Nutritional intervention depends on the subject’s nutritional status at the time of the diagnosis.
The assessment of the nutritional status of children with food allergies should follow a diagnostic pathway that involves a series of successive steps, beginning from the collection of a detailed diet-history.
It is essential that children following an exclusion diet are followed up regularly.
The periodic re-evaluation of the child is needed to assess the nutritional needs, changing with the age, and the compliance to the diet.
The follow- up plan should be established on the basis of the age of the child and following the growth pattern.
PMCID: PMC3914356  PMID: 24386882
Food allergy; Nutritional status; Dietary intake; Cow's milk allergy; Follow-up

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