The editors of Italian Journal of Pediatrics would like to thank all our reviewers who have contributed to the journal in Volume 39 (2013).
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.
Health services research; Quality of care; Quality indicators; Pediatrics; Gastroenteritis
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.
Pediatrics; Medical education; International cooperation; Global health
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.
Prescribing habits; Off-label drug use; Pediatric outpatient clinics
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.
Kabuki syndrome; Immune haemolytic anaemia; Immune thrombocytopenia; Autoimmune haematological disorders; KMT2D; MLL2; KDM6A
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.
Auxology; Human growth; Body height; Developmental tempo; Community
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.
Health services research; Quality of care; Quality indicators; Pediatrics; Asthma
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.
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.
RB1; Tumor; Hemangioendothelioma; Liver; Chromosome 13q; Deletion; Syndrome
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.
Celiac disease; HLA; Malnourishment
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.
Methicillin-resistant Staphylococcus aureus; Nasal carriage; Risk factors
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.
Chronic granulomatous disease; Invasive pulmonary aspergillosis; Posaconazole
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.
Food allergy; Nutritional status; Dietary intake; Cow's milk allergy; Follow-up
The epidemic of childhood allergic disorders has been associated to the decline of infectious disease. However, exposure to many triggers (airborne viruses, tobacco smoke, pollution, indoor allergens, etc.) contribute to the disease. Breast feeding practices, nutrition, dietary and obesity also play a multifaceted role in shaping the observed worldwide trends of childhood allergies. Guidelines for treatment are available, but their implementation is suboptimal. Then developed countries are slowing learning integrating the development of suitable guidelines with implementation plans. Awareness, psychosocial and family factors strongly influence asthma and food allergy control. Moreover, monitoring tools are necessary to facilitate self-management. By taking into consideration these and many other pragmatic aspects, national public health programs to control the allergic epidemic have been successful in reducing its impact and trace the need for future research in the area.
Asthma; Food allergies; Environmental risk factors; Parental atopy; Guidelines; Hygiene hypothesis; Infections; Management; Nutrition; Dietary; Prediction; Prevention; Therapy
An increased but unpredictable risk of malnutrition is associated with hospitalization, especially in children with chronic diseases. We investigated the applicability of Screening Tool for Risk of Impaired Nutritional Status and Growth (STRONGkids), an instrument proposed to estimate the risk of malnutrition in hospitalized children. We also evaluated the role of age and co-morbidities as risk for malnutrition.
The STRONGkids consists of 4 items providing a score that classifies a patient in low, moderate, high risk for malnutrition. A prospective observational multi-centre study was performed in 12 Italian hospitals. Children 1–18 years consecutively admitted and otherwise unselected were enrolled. Their STRONGkids score was obtained and compared with the actual nutritional status expressed as BMI and Height for Age SD-score.
Of 144 children (75 males, mean age 6.5 ± 4.5 years), 52 (36%) had an underlying chronic disease. According to STRONGkids, 46 (32%) children were at low risk, 76 (53%) at moderate risk and 22 (15%) at high risk for malnutrition. The latter had significantly lower Height for Age values (mean SD value -1.07 ± 2.08; p = 0.008) and BMI values (mean SD-values -0.79 ± 2.09; p = 0.0021) in comparison to other groups. However, only 29 children were actually malnourished.
The STRONGkids is easy to administer. It is highly sensitive but not specific. It may be used as a very preliminary screening tool to be integrated with other clinical data in order to reliably predict the risk of malnutrition.
Pediatrics; Children; Hospital malnutrition; Screening tool; Chronic disease
Turner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome.
Sixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined.
Out of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto’s thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves’ disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0–9.9, 10–19.9 and 20–29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05).
Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173).
When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was statistically higher in the X isochromosome group (Fisher exact test p = 0.0315).
Our data confirm a high frequency of thyroid autoimmunity in Italian Turner patients. Patients with X isochromosome are more prone to develop thyroid autoimmunity. Further, an early assay of autoantibodies and monitoring thyroid hormones is fundamental for detecting hypothyroidism earlier and start adequate replacement therapy.
Turner syndrome; Autoimmunity; Autoantibodies; Thyroid disease; Karyotype analysis
Epidemiological studies show that vitamin D deficiency and insufficiency are common worldwide and associated with many diseases including asthma. Our aim was to evaluate vitamin D insufficiency and its clinical consequences.
This cross-sectional study was carried out on 170 children consisted of 85 who were asthmatic and 85 who were not, aged 2 to 14 years in Tekirdag, Turkey, from September 2009 to May 2010. Children’s basal serum D vitamin levels were determined, and their eating habits, vitamin D intake, exposure to sunlight and use of health services during the previous year were investigated. The severity of asthma and levels of asthma control were assessed according to the Global Initiative for Asthma guidelines.
The difference between mean vitamin D levels in the asthmatic group (mean +/- SD) 16.6 +/- 8.5 ng/mL and the healthy control group (mean +/- SD) 28.2 +/- 19.5 ng/mL was found to be statistically significant (p < 0.001). Children in the asthma group had less exposure to sunlight and ate a diet less rich in vitamin D (p < 0.001). A significant difference was observed between the groups regarding the frequency of respiratory tract infections leading to emergency unit admissions and number of hospitalizations (p < 0.001). It was also shown that a decrease in vitamin D level increased the severity of asthma (p < 0.001) and decreased the frequency of controlled asthma (p = 0.010).
This study has demonstrated the correlation between plasma 25 (OH) D levels and childhood asthma. Evidently, this relationship being influenced by multiple factors other than vitamin D, further studies should be conducted to explore the interrelation between all such factors.
Focal epilepsy with ictal abdominal pain is an unusual partial epilepsy characterized by paroxysmal episodes of abdominal or visceral pain, disturbance of awareness and electroencephalographic abnormalities. We describe a new case of ictal abdominal pain in which gastrointestinal complaints were the only manifestation of seizures and review the previously described pediatric patients. In our patient clinical findings, ictal EEG abnormalities, and a good response to antiepileptic drugs allowed us to make a diagnosis of focal epilepsy with ictal abdominal pain. This is a rare epileptic phenomenon that should be suspected in patients with unexplained paroxysmal abdominal pain and migraine-like symptoms. We suggest that, after the exclusion of more common etiologies, focal epilepsy with ictal abdominal pain should be considered in patients with paroxysmal abdominal pain and ictal EEG abnormalities.
Recently, studies suggesting that vitamin D deficiency correlates with the severity and frequency of Type 1 (insulin-dependent) diabetes mellitus (T1DM) and that vitamin D supplementation reduces the risk of developing T1DM have been reported.
In this study, we aimed to assess vitamin D status in Egyptian children and adolescents with T1DM.
This was a case–control study including 80 T1DM diagnosed cases aged 6 to 16 years and 40 healthy children with comparable age and gender as the control group. For all subjects, serum 25 (OH) D levels were measured by ELISA, Serum parathyroid hormone (PTH) and serum insulin were measured by an electrochemiluminesce immunoassay. Serum glucose, Glycosylated hemoglobin (HbA1c) levels and homeostasis model assessment of insulin resistance (HOMA-IR) were also assessed.
Compared to the control group, serum vitamin D levels were not significantly lower in diabetic subjects (24.7 ± 5.6 vs 26.5 ± 4.8 ng/ml; P > 0.05). Among diabetic cases 44(55%) were vitamin D deficient; meanwhile 36(45%) cases had normal vitamin D level (P < 0.01). In addition, 26(32.5%) diabetic cases had 2ry hyperparathyroidism and 54(67.5%) cases had normal parathyroid hormone level; meanwhile, none of the control group had 2ry hyperparathyroidism (P < 0.01). Furthermore, we found a significant difference between vitamin D deficient diabetic cases and those with normal vitamin D level as regards HOMA-IR and diabetes duration (P < 0.01).
Public health message on the importance of vitamin D status; especially in diabetic children and adolescents, should be disseminated to the public.
Vitamin D; Parathyroid hormone; Diabetic; Children
We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.
The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven’s Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.
WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven’s Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.
Prader-Willi syndrome; Uniparental disomy (UPD); Cognitive profile; Behavior; Intellectual quotient (IQ)
The development of neurological complications due to varicella zoster virus (VZV) reactivation is relatively uncommon, particularly in the case of immunocompetent patients. Only a few cases have been described in the literature, most of which involved adult or elderly patients.
Two days after his pediatrician had diagnosed herpes zoster and prescribed oral acyclovir 400 mg three times a day, a 14-year-old boy was admitted to our hospital because of mild fever, severe headache, slowness, drowsiness and vomiting. A cerebrospinal fluid examination was performed and showed an increased protein concentration (95 mg/dL), normal glucose level (48 mg/dL; blood glucose level, 76 mg/dL) and lymphocytic pleocytosis (1,400 lymphocytes/μL), and VZV DNA was detected by means of polymerase chain reaction (1,250 copies/mL). The results of immunological screening for HIV, lymphocyte subpopulation counts, serum immunoglobulin and complement (C3 and C4) levels, vaccine responsiveness and lymphocytes stimulation tests were unremarkable. Acyclovir was administered intravenously at a dose of 10 mg/kg three times a day and continued for 10 days. The therapy was highly effective and the patient’s clinical condition rapidly improved: fever disappeared after two days, and all of the signs and symptoms of neurological involvement after four days. The skin lesions resolved in about one week, and no pain or dysesthesia was ever reported. Given the favourable evolution of the illness, the child was discharged without further therapy after the 10-day treatment. The findings of a magnetic resonance examination immediately after the discontinuation of the antiviral therapy were normal, and a control examination carried out about four weeks later did not find any sign or symptom of disease.
VZV reactivation can also lead to various neurological complications in immunocompetent children. Prompt therapy with acyclovir and the integrity of the immune system are important in conditioning outcome, but other currently unknown factors probably also play a role.
Herpes zoster; Varicella; Varicella zoster virus; VZV reactivation
Fibroblast Growth Factor (FGF) 23 influences endothelial integrity and few reports have studied the association between FGF23 and Kawasaki syndrome (KS), a childhood vasculitis displaying a high risk of subsequent cardiac abnormalities (CaA).
To investigate the genetic variation in the FGF23 gene in a cohort of KS children and its association with serum FGF23 levels and eventual development of CaA, including both coronary artery dilatations and aneurysms.
Patients and methods
84 Italian KS children were recruited; 24/84 (28.6%) developed CaA. Each patient underwent evaluation of serum FGF23 levels and FGF23 genotype: the frequency of the c.212-37insC (rs3832879) polymorphism in intron 1 was examined and compared with sex, age at disease onset, fever duration, laboratory data, and occurrence of CaA. Univariate statistical analysis of categorical parameters was performed by the Pearson’s Chi-square test or Fisher’s exact test as appropriate. Parametric variables were assessed by Student’s t-test for unpaired data. Independent predictors of disease were studied by a logistic regression model.
28/84 patients carried the FGF23 polymorphism (33.3%) and had higher serum FGF23 levels (p < 0.01). FGF23 polymorphism was significantly associated with CaA compared to wild type FGF23 children (respectively, p = 0.03 and p = 0.05). The comparison with demographical, clinical or laboratory data was not significant.
The prevalent segregation of the c.212-37insC polymorphism in children with CaA advocates a possible functional FGF23 role in the predisposition to higher serum levels of FGF23 and potential occurrence of any coronary artery abnormalities in KS.
Kawasaki syndrome; Fibroblast growth factor 23; Cardiac abnormalities; Child
Prevalence of celiac disease in developed countries is assessed about 1:100–1:150. The real prevalence is unknown because mass screenings are expensive and difficult to organize. Moreover celiac disease can affect people at every age and studies on asymptomatic subjects at different ages are not comparable. In this study we wanted to know the real prevalence of celiac disease in children in the Republic of San Marino. We also analysed concordance of different tests used and costs of mass screening.
The study started in 1993. From 1993 to 1997 children aged 6, 10 and 14 were screened. Since 1997 only children aged 6 were monitored, in order to have a homogeneous population. In fact, every child born since 1980 was taken into account. Children were recruited by classroom lists of students for general paediatric examination. Until 2005 the screening test was based on dosage of antibodies anti-gliadin (AGA) IgA and IgG on venous blood. Since 2006 these tests were replaced by anti-transglutaminase IgA antibodies (ATTG). Anti-endomysial antibodies (EMA) were performed if result of any between either AGA or ATTG tests was positive or borderline; if EMA was positive, then an endoscopy with histological examination was performed to confirm the final diagnosis.
Attendance to paediatric examination was 96%, submission to blood test was 87%. 42 on 5092 (0,8%; 1:125) children resulted affected by celiac disease. Histology always confirmed diagnosis by serology except for two cases. AGA test (until 2005) yielded 28 on 4304 (0,7% 1:143); ATTG test (since 2006) revealed 14 positive cases on 788 (1,8%; 1:55) leading to a larger percentage of diagnosis. EMA antibodies always confirmed positivity of ATTG.
Prevalence of celiac disease in children of Republic of San Marino is comparable to other North-European Countries. Sensitivity of ATTG proved much higher than that of anti-gliadin antibodies. Concordance between ATTG and EMA was 100%. Concordance between serology and histology was approximately 100%. Cost of screening was yearly about 5000 euros (250 children screened every year).
Celiac disease; Antitransglutaminase antibodies; Screening; Children; Prevalence; Antiendomysial antibodies; Anti gliadin antibodies
Type 1 diabetes mellitus may be associated with many autoimmune diseases with the common autoimmune pathogenesis. We describe the case of a girl suffering from Type 1 diabetes mellitus and autoimmune Hashimoto's thyroiditis since the childhood and, due to the onset of Juvenile Idiopathic Arthritis during adolescence, for three years practiced therapy with an anti-TNF drug, etanercept . Currently her inflammatory markers are normal, arthritis is inactive and diabetes is well controlled. During the treatment with anti-TNF drug we observed a significative reduction of insulin dose, probably due to an increased tissue sensitivity secondary to the suppression of the activity of TNF-alpha. Several clinical trials that have evaluated the effect of immunomodulatory agents in diabetic patients, especially in those with recent onset of disease, were already performed but further studies of longer duration on a larger population are needed to assess the role of biologic drugs and immunotherapy in this group of patients.
Type 1 diabetes mellitus; Autoimmune Hashimoto's thyroiditis; Juvenile idiopathic arthritis; Polyarthritis; Rheumatoid factor; Autoimmunity; Immunotherapy; Tumor necrosis factor; Anti-TNF therapy; Etanercept