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Intravenous administration of zidovudine (ZDV) during labour is a key step for vertical HIV transmission (VT) prevention, but there is no evidence of benefit when maternal HIV-RNA at delivery is50 copies/mL. The aim of this study is evaluating the appropriateness of intrapartum ZDV use in Italy.Observational study including mother-infant pairs with perinatal HIV exposure during 2002-2019, enrolled in the Italian Register for HIV Infection in Children. Univariable and multivariable logistic regression were used to evaluate factors associated with VT.A total of 3,861 infants, born from 3,791 pregnancies were included. The frequency of ZDV use was 79.9%, 92.1%, 93.7% and 92.8% when HIV-RNA was not available, ≥400 copies, between 50 and 399 copies, and50 copies/mL. Thirty-three out of 3861 (0.85%) infants were subsequently diagnosed with HIV, 25/3861 (0.6%) of them born to mothers receiving intrapartum ZDV, and 31 (93.9%) to mothers with HIV-RNA ≥50 copies/mL or not available. In women with HIV-RNA50 copies/mL, ART discontinuation during pregnancy was the strongest risk factor for VT (odds ratio, OR, 23.1, 95%CI 2.4-219.3), while a higher gestational age (OR 0.6, 95%CI 0.4-0.8) and PEP administration to the newborn (aOR 0.004, 95%CI0.0001-0.4) were protective factors. Intrapartum ZDV administration did not influence the final outcome in this group.In ART era, more transmission events may occur in utero, limiting value of intrapartum ZDV, particularly for women with suppressed HIV-RNA load. More attention to the HIV-RNA testing of mothers before delivery may avoid unnecessary ZDV use.

Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected individuals develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma and kidney failure. The purpose of this study was to identify potential biomarkers of the evolution of the disease in GSDIa patients. To this end, we analyzed the expression of exosomal microRNAs (Exo-miRs) in the plasma exosomes of 45 patients aged 6 to 63 years. Plasma from age-matched normal individuals were used as controls. We found that the altered expression of several Exo-miRs correlates with the pathologic state of the patients and might help to monitor the progression of the disease and the development of late GSDIa-associated complications.

Background Cardiovascular disease (CVD) is one of the main causes of mortality and morbidity in Italy. Hypercholesterolemia is a modifiable CVD risk factor. The detection and treatment of hypercholesterolemia can modify the natural history of CVD, making CVD risk for affected patients comparable to that of unaffected ones. In this scenario, the detection of families at high cardiovascular risk is the first step of CVD prevention. This multicenter, observational study is aimed at finding an effective and non-invasive screening strategy to detect families at high risk for CVD. Methods A survey investigating the knowledge of lipid and CVD issues was distributed to the parents of all infants born at the Neonatology Unit of Piacenza City Hospital and San Paolo Hospital in Milan over a 6 months period. Overall, 554 surveys have been collected. Results 26.8% newborns had parents who knew their own lipid profile, 40.2% had parents who knew the correct normal blood values of total cholesterol, 37.1% had parents who declared to have first or second degree relatives with lipid disorders, 33.7% had parents who declared to have first or second degree relatives with premature CVD Conclusion Collecting a problem-tailored and accurate family history seems to be a good strategy to detect high risk families. Our data suggest that the percentage of adults who are unaware of their lipid profile, with a positive family history for CVD and/or lipid disorders is higher than expected. As a result, even the number of undetected paediatric patients at high cardiovascular risk might be greater than expected.

Background It is now well established that atherosclerosis begins in childhood and evolves through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults. Main test Childhood is a critical phase during which atherosclerosis may begin to develop; in the presence of familial hypercholesterolemia, lifelong elevation of Low Density Lipoprotein cholesterol levels greatly accelerates atherosclerosis. These concepts, which have been largely developed from epidemiologic evidence, have not always been simple to implement in the paediatric clinical practice. The purpose of this article is to briefly review but also to highlight the rationale, the motivation and the methods in the process of identifying children and adolescents with familial hypercholesterolemia, an often hidden but very important genetic disease.

Background and aims: Familial Hypercholesterolaemia (FH) is characterised by a genetic alteration in the transport and metabolism of cholesterol that leads to elevated levels of total cholesterol (CT) and low-density lipoprotein cholesterol (LDL-C) and early onset of atherosclerosis. According to the current guidelines, diet and promotion of healthy habits are first-line treatments. Little is known about the effectiveness of cholesterol-lowering diet and healthy lifestyle habits on plasma cholesterol and lipid profile in children and adolescents with FH. The aim of the study is to investigate the effect of the nutritional counseling on plasma lipid profile in FH children at the first step of treatment. Methods: 115 FH children (2–17 years) were included in the study; dietary habits were evaluated through a Food Frequency Questionnaire (FFQ) and blood samples for lipid profile were collected at the enrollment (T0) and six months later (T1). Results: the lipid profile at T0 and T1, expressed as mean ± standard deviation in mg/dL, was, respectively: total cholesterol 285.9 ± 51.1 and 276.6 ± 46.8 (paired test difference p value < 0.01), LDL-cholesterol 214.9 ± 47.7 and 206.4 ± 46.6 (p value < 0.01), HDL-cholesterol 52.9 ± 13 and 54.4 ± 11.5 (p value 0.07), triglycerides 87 ± 46.7 and 82.2 ± 38.4 (p value 0.4), non-HDL cholesterol 233 ± 51.4 and 222.2 ± 47.4 (p < 0.01). In the dietary habits (weekly portions) we observed an improvement (p ≤ 001) for fruit and vegetables, fish, pulses, whole foods, and a reduction (p < 0.01) for meat, sausages, cheese, junk foods consumption. Conclusions: In FH children we have highlighted an improvement of the plasma lipid profile and in healthy dietary habits after nutritional counseling.

Glycomacropeptide (GMP) represents a good alternative protein source in Phenylketonuria (PKU). In a mouse model, it has been suggested to exert a prebiotic role on beneficial gut bacteria. In this study, we performed the 16S rRNA sequencing to evaluate the effect of 6 months of GMP supplementation on the gut microbiota of nine PKU patients, comparing their bacterial composition and clinical parameters before and after the intervention. GMP seems to be safe from both the microbiological and the clinical point of view. Indeed, we did not observe dramatic changes in the gut microbiota but a specific prebiotic effect on the butyrate-producer Agathobacter spp. and, to a lesser extent, of Subdoligranulum. Clinically, GMP intake did not show a significant impact on both metabolic control, as phenylalanine values were kept below the age target and nutritional parameters. On the other hand, an amelioration of calcium phosphate homeostasis was observed, with an increase in plasmatic vitamin D and a decrease in alkaline phosphatase. Our results suggest GMP as a safe alternative in the PKU diet and its possible prebiotic role on specific taxa without causing dramatic changes in the commensal microbiota.

Coronary heart disease (CHD) is the main cause of death and morbidity in the world. Childhood is a critical period during which atherosclerosis may begin to develop; in the presence of familial hypercholesterolaemia (FH), the lifelong elevation of LDL cholesterol levels greatly accelerates atherosclerosis. Lowering LDL-C levels is associated with a well-documented reduction in cardiovascular disease risk. Current guidelines support the dietary and lifestyle approach as the primary strategy of intervention in children and adolescents with FH. Nutraceuticals (functional foods or dietary supplements of plant or microbial origin) are included in the EU guidelines as lifestyle interventions and may provide an additional contribution in reducing LDL levels when pharmacological therapy is not yet indicated. Meta-analyses of randomised clinical trials have demonstrated that the same nutraceuticals improve lipid profile, including lowering LDL-C, total cholesterol and triglyceride levels. In this narrative review, starting from current scientific evidence, we analyse the benefits and limitations of the nutraceuticals in children and adolescents with dyslipidaemia, and we try to evaluate their use and safety in clinical practice.

Little is known about the role of Lp(a) in the assessment of cardiovascular risk in the paediatric population. Trying to clarify the clinical relevance of Lp(a) in risk stratification, the aim of the study is to evaluate the association between Lp(a) plasma levels in children with familial hypercholesterolaemia (FH) and positive family history for premature cardiovascular disease (pCVD) in first- and second-degree relatives.653 Caucasian children and adolescents (334 females and 319 males), aged 2-17 years, with diagnosis of FH from a paediatric cohort included in the LIPIGEN Network, were selected. We compared family history of pCVD, lipid and genetic profile in two groups based on Lp(a) levels below or above 30 mg/dL. To determine the independent predictors of pCVD, a multivariate logistic regression was used, with all clinical characteristics and blood measurements as predictors.Subjects with Lp(a) 30 mg/dl more frequently reported positive family history of pCVD compared to subjects with Lp(a)≤30 mg/dl (69.90% vs 36.66%, p 0.0001), while did not show differences in terms of median [interquartile range] LDL-cholesterol level (153.00 [88.00 vs 164.50 [90.25] mg/dL, p = 0.3105). In the regression analysis, Lp(a) 30 mg/dl was an independent predictor of family history of pCVD. Comparing subjects with or without family history of pCVD, we reported significant differences for Lp(a) 30 mg/dl (46.25% vs 17.65%, p 0.0001), FH genetic mutation (50.48% vs 40.75%, p = 0,0157), as well as for LDL-cholesterol (p = 0.0013) and total cholesterol (p = 0.0101).Children/adolescents with FH and Lp(a) 30 mg/dl where more likely to have a positive family history of pCVD. Lp(a) screening in children and adolescents with FH may enhance risk assessment and help identify those subjects, children and relatives, at increased pCVD risk.

Background Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other potential therapeutic approaches have been reported before, these have never been tried as co- treatments. L-alanine oral supplementation (LAOS) has been proven to reduce muscle breakdown: we hereby report the first case of supplementation on a PD patient on ERT. Case presentation F. is a 9 y.o. infantile onset Pompe Disease (IOPD) girl ERT-treated since age 1 developing a progressive myopathy. We started her on LAOS and performed assessments at baseline, 6 and 9 months. At baseline, F.’s weight, height and BMI were within normal ranges, while body composition showed low fat mass -FM and high resting energy expenditure—REE levels. After LAOS, a progressive FM increase and REE reduction could be observed both at 6 and 9 months. Conclusions ERT is not curative for PD patients thus additional treatments could be considered to improve outcomes. Our patient showed physical signs of inability to accumulate energy when exclusively on ERT, while FM increase and REE reduction occurred when supplemented with LAOS, likely reflecting anabolic pathways’ implementation. This is the first case reporting potential LAOS benefits in PD-on ERT patients. Longitudinal case control studies are yet needed to evaluate possible efficacy of combined LAOS And ERT treatment in PD patients.

Phenylketonuria (PKU) is a rare metabolic disorder that leads to severe neurological abnormalities unless early treated with a strict phenylalanine (Phe)-restricted diet. The parents' involvement in PKU management is crucial and could lead to psychological distress; however, few studies have explored the parents' psychological wellbeing. The study aimed to: 1) evaluate the presence of psychological distress and impaired quality of life among parents of children with PKU, assessing the impact of the diagnosis and the impact of the treatment management; 2) explore the associations between parents' psychological outcomes and their children's blood-Phe levels.One hundred thirty-eight parents of patients with PKU (who need a Phe-restricted diet) and with a mild form (mild hyperphenylalaninemia-MHP, with no diet indication) filled-out self-report psychological questionnaires; Phe-levels of children with PKU were retrieved.Parents of children with PKU did not report higher levels of psychological distress neither compared with the normative scores nor with parents of children with MHP. Optimal Phe-levels were associated with a higher number of parents' depressive complaints, with a lower tendency to express anger feelings, with a lower social functioning, and a higher mental health.Parents of children with PKU showed a good psychological adaptation to their children's disease and treatment. Findings highlighted associations between parents' psychological wellbeing and their children's adherence to diet. Interestingly, an optimal adherence to the diet of their children was associated with parental low social functioning, a higher tendency to control the anger expression, and greater somatic depressive symptoms.

Phenylketonuria (PKU) management aims to control phenylalanine (Phe) intakes. In newborns and infants this implies possible titration of Human milk (HM) with supplementation of Phe-free formula. HM benefits, better if prolonged, are well known in healthy populations, suggesting it may be used in PKU patients. Despite that, the current literature does not define recommendations on how best perform it in such a population. The main purpose of this study was to evaluate nutrition approaches in newborns and infants affected by PKU and to define if differences can influence the duration of breastfeeding. Data from 42 PKU infants were reviewed. Of these, 67% were breastfed with the use of three different approaches. The type of approach used impacted the duration of breastfeeding, which was longer when using a pre-measured amount of Phe-free formula administered prior to HM. This is the first study to suggest a specific method for breastfeeding in PKU. Considering widely known breastfeeding benefits, both for patients and their mothers, our data should encourage adequate awareness on how to choose correct breastfeeding modalities.

Context Growth of male genitalia represents an important marker of sexual development. Testicle size is the primary measure and little is known regards penile length changes during puberty. Objective This work aims to assess penis growth and testosterone levels in obese vs normal-weight children and adolescents, to evaluate a possible influence of obesity on genital development in boys, and to establish a new method for measuring penis length that allows comparison of normal-weight and overweight boys. Methods We assessed anthropometric and genital development in 1130 boys from birth to age 20 years. Testosterone levels were also measured. A new method for penile length measurement was employed to minimize errors when comparing obese and nonobese children. Penis length was measured with a gentle, painless, straight positioning on a centimetric ruler without stretching, which is doable from the first years of life until the end of adolescence. Results Penis length and testosterone are strongly related in children during puberty. Penile length growth is significantly decreased (by about 10%) in obese boys when compared to normal-weight boys, with concomitantly reduced testosterone levels, across puberal phases. Conclusion Childhood obesity represents an important determinant of lower testosterone level and reduced penis development. A new method should be employed to improve penis measurement in normal-weight and overweight/obese boys. The possible significance of these observations for adult genital development and reproductive potential will require large longitudinal studies.

In March 2020, northern Italy became the second country worldwide most affected by Covid-19 and the death toll overtook that in China. Hospital staff soon realized that Covid-19 was far more severe than expected from the few data available at that time. The Covid-19 pandemic forced hospitals to adjust to rapidly changing circumstances. We report our experience in a general teaching hospital in Milan, the capital of Lombardy, the most affected area in Italy. First, we briefly describe Lombardy's regional Covid-19-related health organizational changes as well as general hospital reorganization. We also provide a multidisciplinary report of the main clinical, radiological and pathological Covid-19 findings we observed in our patients.

Background Despite ibuprofen widely recognized safety profile, an increase of suspected adverse events has been reported in the last decade in parallel with its growing over-the-counter use. The aims of this study were to assess the therapeutic approach to the feverish child and to evaluate the main indications and the most frequent adverse events related to ibuprofen administration in children. Methods A specific questionnaire-form regarding the management of ibuprofen therapy in children was distributed among a sample of pediatricians all over the Italian territory between September and October 2020. An electronic data collection through a specifically designed web-based platform was performed among the participating pediatricians. Results One-hundred-eighty-one pediatricians completed the survey. In case of fever, 177 (98%) participants prescribe paracetamol, while only 4 (2%) preferred ibuprofen as first choice. One-hundred-twenty-eight pediatricians (71%) administer paracetamol alone, while 53 (29.2%) use the combined/alternating treatment with ibuprofen. Ibuprofen is mostly administered for musculoskeletal pain (30%), upper respiratory tract infection (20%), headache (15%) and post-surgical pain (9%). Sixty-three (35%) out of 181 participating pediatricians reported 191 adverse events during ibuprofen administration. The most common were gastrointestinal (GI), with GI bleeding being reported in 30/191 cases (15.7%), epigastric pain in 29/191 (15.1%), non-specified abdominal pain in 22/191 (11.1%) and nausea/vomiting in 21/191 (11%). Severe adverse events including kidney damage (3.1%), complicated infections (0.5%), pneumonia associated empyema (0.5%), soft tissue infection (0.5%) and disseminated intravascular coagulation (0.5%) were also reported. The adverse events led to a hospitalization in 12% of children. In 53/191 cases (28%) the adverse events were related to a wrong dosage or prolonged therapy or errors in frequency of administration. Conclusions This survey demonstrate a sufficient awareness of Italian pediatricians regarding ibuprofen-prescribing patterns with the only possible concern related to the relatively high percentage of pediatricians performing a combining/alternating use of paracetamol and ibuprofen. The reported adverse events were mild in most of the cases and often related to errors in dosage, frequency and treatment duration, emphasizing the need for a major caution of both practitioners and patients in their use.

From March 9 to May 3, 2020, lockdown was declared in Italy due to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Our aim was to evaluate how the SARS-CoV-2 pandemic and related preventive strategies affected pediatric emergency rooms (ERs) during this period. We performed a retrospective cohort multicenter study, comparing the lockdown period to the corresponding period in 2019. We examined 15 Italian pediatric ERs in terms of visit rates, specific diagnoses (grouped as air communicable diseases and non-air communicable diseases), and triage categories. During the lockdown period, ER admissions decreased by 81% compared to 2019 (52,364 vs. 10,112). All ER specific diagnoses decreased in 2020 and this reduction was significantly higher for air communicable diseases (25,462 vs. 2934, p &lt, 0.001). Considering the triage category, red codes remained similar (1% vs. 1%), yellow codes increased (11.2% vs. 22.3%), and green codes decreased (80.3% vs. 69.5%). We can speculate that social distancing and simple hygiene measures drastically reduced the spread of air communicable diseases. The increase in yellow codes may have been related to a delay in primary care and, consequently, in ER admissions.

During the last decade several paediatric studies have been published with different possible indications for probiotics, leading to a global increase of probiotics' market. Nevertheless, different study designs, multiple single/combined strains and small sample size still leave many uncertainties regarding their efficacy. In addition, different regulatory and quality control issues make still very difficult the interpretation of the clinical data. The objective of this review is to critically summarise the current evidence on probiotics' efficacy and safety on a different number of pathologies, including necrotizing enterocolitis, acute infectious diarrhoea, allergic diseases and functional gastrointestinal disorders in order to guide paediatric healthcare professionals on using evidence-based probiotics' strains. To identify relevant data, literature searches were performed including Medline-PubMed, the Cochrane Library and EMBASE databases. Considering probiotics strain-specific effects, the main focus was on individual probiotic strains and not on probiotics in general.

The most recent scientific evidence supports the consumption of cow's milk and dairy products as part of a balanced diet. However, these days, the public and practicing physicans are exposed to a stream of inconsistent (and often misleading) information regarding the relationship between cow's milk intake and health in the lay press and in the media. The purpose of this article, in this context, is to facilitate doctor-patient communication on this topic, providing physicians with a series of structured answers to frequently asked patient questions. The answers range from milk and milk-derived products' nutritional function across the life span, to their relationship with diseases such as osteoporosis and cancer, to lactose intolerance and milk allergy, and have been prepared by a panel of experts from the Italian medical and nutritional scientific community. When consumed according to appropriate national guidelines, milk and its derivatives contribute essential micro- and macronutrients to the diet, especially in infancy and childhood where bone mass growth is in a critical phase. Furthermore, preliminary evidence suggests potentially protective effects of milk against overweight, obesity, diabetes, and cardiovascular disease, while no clear data suggest a significant association between milk intake and cancer. Overall, current scientific literature suggests that an appropriate consumption of milk and its derivatives, according to available nutritional guidelines, may be beneficial across all age groups, with the exception of specific medical conditions such as lactose intolerance or milk protein allergy. Key teaching points: Milk and its derivatives contribute essential micro and macronutrients to the diet, when consumed according to appropriate national guidelines, especially in infancy and childhood where bone mass growth is in a critical phase. Preliminary evidence suggests potentially protective effects of milk against overweight, obesity, diabetes and cardiovascular disease No clear data are available about the association between milk intake and cancer. Current scientific literature suggests that an appropriate consumption of milk and its derivatives may be beneficial at all ages, with the exception of specific medical conditions such as lactose intolerance or milk protein allergy.

The term weaning describes the time period in which a progressive reduction of breastfeeding or the feeding of infant-formula takes place while the infant is gradually introduced to solid foods. It is a crucial time in an infant’s life as not only does it involve with a great deal of rapid change for the child, but it is also associated with the development of food preferences, eating behaviours and body weight in childhood and also in adolescence and adulthood. Therefore, how a child is weaned may have an influence later, on the individual’s entire life. Babies are traditionally first introduced to solid foods using spoon-feeding, in most countries. Beside to traditional approach, an alternative method, promoting infant self-feeding from six months of age, called baby-led weaning or “auto-weaning”, has grown in popularity. This approach causes concern to healthy professionals and parents themselves as data from observational studies pointed out to a potential risk of iron and energy inadequacy as well as choking risk. Aim of this systematic review was to critically examine the current evidence about baby-led weaning approach and to explore the need for future research. A systematic search was conducted in Cochrane library databases and DARE (Database of Abstract of Reviews of Effects), EMBASE and MEDLINE in the period 2000–2018 (up to March 1st) to address some key questions on baby-led weaning. Prisma guidelines for systematic reviews has been followed. After the inclusion/exclusion process, we included for analysis of evidence 12 articles, 10 observational cross-sectional studies and 2 randomized controlled trials. Pooling of results from very different outcomes in the studies included was not possible. Both randomized trials have potential bias; therefore, the quality of the evidence is low. There are still major unresolved issues about baby-led weaning that require answers from research and that should be considered when advices are requested from health professionals by parents willing to approach this method.

Introduction 6-Pyruvoyl-tetrahydropterin synthase deficiency (PTPSd) is a rare autosomal recessive disorder of synthesis of biogenic amines, which is characterized by variable neurological impairment and hyperphenylalaninemia. We aimed to assess the long-term clinical outcome of this disorder and the factors affecting it. Methods At total of 28 PTPSd patients (aged 19.9 ± 10.9 years) underwent clinical (neurological and psychiatric) and neuropsychological assessment (BRIEF, VABS-II, and IQ). Based on CSF homovanillic (HVA) and 5-hydroxyindolacetic acid (5-HIAA) and pterin concentrations at diagnosis, patients were classified as having either a severe [SF; low level of CSF, HVA, and 5-HIAA with altered neopterin/biopterin (Neo/Bio)] or mild form (MF; normal HVA and 5-HIAA with altered Neo/Bio) of PTPSd. Results Approximately 36% of patients had MF PTPSd. At the last examination, 43% of patients had movement disorders (2 MF, 10 SF), 43% of patients had variable degrees of intellectual disability (SF only), 39% met the criteria for a psychiatric disorder (3 MF, 9 SF). Applying a linear regression model, we found that HVA and phenylalanine levels at birth had a significant influence on IQ, BRIEF, and VABS-II variability. Lastly, 5-HIAA further contributed to VABS-II variability. The disease showed a self-limiting clinical course and its treatment, although delayed, is effective in improving the neurological status. Conclusions Neurodevelopmental impairment due to PTPSd shows a self-limiting course. A continuous improvement in the neurological condition has been observed in patients receiving treatment, even when delayed. The severity of brain biogenic amine depletion at diagnosis predicts neurological and psychiatric outcomes.

Background The use of media device, such as smartphone and tablet, is currently increasing, especially among the youngest. Adolescents spend more and more time with their smartphones consulting social media, mainly Facebook, Instagram and Twitter because. Adolescents often feel the necessity to use a media device as a means to construct a social identity and express themselves. For some children, smartphone ownership starts even sooner as young as 7 yrs, according to internet safety experts. Material and methods We analyzed the evidence on media use and its consequences in adolescence. Results In literature, smartphones and tablets use may negatively influences the psychophysical development of the adolescent, such as learning, sleep and sigh. Moreover, obesity, distraction, addiction, cyberbullism and Hikikomori phenomena are described in adolescents who use media device too frequently. The Italian Pediatric Society provide action-oriented recommendations for families and clinicians to avoid negative outcomes. Conclusions Both parents and clinicians should be aware of the widespread phenomenon of media device use among adolescents and try to avoid psychophysical consequences on the youngest.

Varicocele is a rather common andrological condition in adolescents, which can adversely affect testicular growth and seminal parameters, leading to infertility in about 20% of adults. The aim of this study was to investigate if treating varicocele before the age of 18 is a beneficial option to improve testicular hypotrophy and seminal parameters and if minimally invasive techniques could be an appropriate treatment choice for adolescent varicocele associated with spermatic vein reflux. A percutaneous scleroembolization was performed in sixty-four consecutive young patients (13-19 years old) with left varicocele, preceded by a fluoroscopy. In thirty-four of them, semen samples were also collected. We examined semen samples and testicles dimensions before and after percutaneous varicocelectomy, compared to a nonoperated control group, with a six-month follow-up. Total sperm count and sperm morphology were significantly increased in the intervention group. Left testicular volume significantly increased in both groups, while only correction of varicocele improved spermatozoa release per unit of testis volume. We conclude that early varicocelectomy by percutaneous scleroembolization significantly ameliorates seminiferous tubules activity in the critical adolescent phase of testicular growth. It is suggested that adolescents should be; offered varicocele repair as soon as possible in order to improve reproductive potential.

Childhood obesity represents an important public health issue worldwide and is strongly linked to metabolic alterations such as hypertension, insulin resistance, and dyslipidemia. The constellation of these conditions is commonly known as Metabolic Syndrome (MetS). Metabolic syndrome is not just a simple cluster of metabolic complications due to excess of adipose tissue, but is considered a risk factor for cardiovascular diseases. Evidence from several human and animal studies suggests that environmental and nutritional exposure during pregnancy may affect the newborn development and future health through epigenetic changes, playing a potential role in determining obesity and obesity-related complications. Understanding how nutritional epigenetic mechanisms contribute to the “transgenerational risk” for obesity and metabolic dysfunction is crucial in order to develop early prevention strategies for children’s health. Nutrigenetics is the science that studies the role of nutrients in gene expression. Long Chain Polyunsaturated Fatty Acids (LCPUFAs) are known for their health benefits, especially in relation to their ability to modulate inflammation and improve some obesity-associated comorbidities, mainly by decreasing plasma triglycerides. Recent nutrigenetic research is focusing on the potential role of LCPUFAs in influencing epigenetic markers. In this review, we present the most recent updates about the possible interaction between n-3 LCPUFAs and epigenetic pathways in metabolic syndrome. Literature from MEDLINE® and the Cochrane database between May 2005 and December 2018 has been scanned.

Retinol palmitate oral administration is convenient, but it is difficult to assess/monitor its nutritional status in preterm infants and literature is controversial about the administration route and the effectiveness of vitamin A supplementation. We primarily evaluated retinol plasma levels to assess the vitamin A nutritional status in preterm infants (

Background Vitamin D (vitD) is involved in important regulatory functions of the innate and adaptive immune system. So, it has been hypothesized that vitD might influence the course of atopic dermatitis (AD). Also obesity may have impact on immune system. The aim of our study was to investigate vitamin D status and body mass index (BMI) in urban children with AD. Methods 52 children with AD and 43 healthy children were enrolled. SCORAD, BMI and serum vitD levels were evaluated. Results There was an association between vitamin D and the AD occurrence but neither between vitamin D and the AD severity, nor between vitamin D and BMI. A positive correlation was observed between BMI and the AD severity in males. Conclusions This study highlights the complex inter-relationships among atopic dermatitis severity, vitamin D and body mass index and suggests the need to investigate the role of genetic factors and/or gender-related differences to possibly identify new prevention strategies.

Promoting a healthy lifestyle during the first years of life is a key strategy for controlling obesity risk in later life, having good-quality epidemiological data on eating habits of infants and toddlers can improve awareness and possibly the education given by pediatricians to parents and children. With this aim, we performed a survey about the dietary pattern of Italian children in early childhood. We described the intake of energy, macronutrients and fiber, minerals, and vitamins of 443 Italian children (range 6.4&ndash, 131 months), through a three-day food record filled out by their parents and assessed by family pediatricians. The results were compared with the Italian Dietary Reference Values. The median protein intake, in g/kg per body weight, exceeded the average requirement in all age groups, and in the 12&ndash, 36 month period, the intake as % of energy was outside the reference range (&gt, 15%). The majority of the children consumed quantities of simple carbohydrates (consisting of both natural sugars and free or added sugars, 82.3% of the children in the study) and saturated fats (69% of the children in the study) above the limits of the Italian Dietary Reference Values, with low intake of fiber and polyunsaturated fats. Median mineral intake, in our study, was different depending on age, while vitamin D intake was very low in all age groups. This is one of the few studies reporting on the nutrient intake of Italian children with reference to nutrition recommendations in order to identify the principal nutritional errors. The present results underline the need for healthcare policies starting from the first years of life in order to ameliorate nutrient intake during childhood, possibly impacting long-term health outcomes.

The aim of the present study was to apply the Check-all-that-apply (CATA) method in an ambulatory context involving subjects with phenylketonuria (PKU) to obtain a sensory description and to find the drivers of liking of low-phenylalanine products (Glycomacropeptide vs. L-amino acids formulas). 86 subjects with PKU (age range: 8&ndash, 55 years) evaluated 8 samples: 4 L-amino acid formulas and 4 Glycomacropeptide (GMP) formulas, flavored with neutral, chocolate, strawberry and tomato aromas. Participants were asked to indicate which sensory attributes characterized each formulations and to score the overall liking. Significant differences were found regarding liking scores (F = 65.29, p &lt, 0.001). GMP samples flavored with chocolate and strawberry, described as sweets, with a mild and natural taste and odor, were the most appreciated. Overall, GMP formulas obtained higher liking scores compared to L-amino acid formulas. Tomato flavored samples, described as bitter, salty, with artificial color, with strong taste and odor, obtained the lowest scores. In conclusion, CATA questionnaire seems to be a suitable method also in ambulatory context since this approach suggested that different foods and beverages with GMP could be developed to improve dietary treatment compliance of subjects with PKU from school age onwards.

Tuberous Sclerosis Complex (TSC) is a multisystemic condition caused by mutations in TSC1 or TSC2, but a pathogenic variant is not identified in up to 10% of the patients. The aim of this study was to delineate the phenotype of pediatric and adult patients with a definite clinical diagnosis of TSC and no mutation identified in TSC1 or TSC2. We collected molecular and clinical data of 240 patients with TSC, assessing over 50 variables. We compared the phenotype of the homogeneous group of individuals with No Mutation Identified (NMI) with that of TSC patients with a TSC1 and TSC2 pathogenic variant. 9.17% of individuals were classified as NMI. They were diagnosed at an older age (p = 0.001), had more frequent normal cognition (p 0.001) and less frequent epilepsy (p = 0.010), subependymal nodules (p = 0.022) and giant cell astrocytomas (p = 0.008) than patients with TSC2 pathogenic variants. NMI individuals showed more frequent bilateral and larger renal angiomyolipomas (p = 0.001; p = 0.003) and pulmonary involvement (trend) than patients with TSC1 pathogenic variants. Only one NMI individual had intellectual disability. None presented with a subependymal giant cell astrocytoma. Other medical problems not typical of TSC were found in 42.86%, without a recurrent pattern of abnormalities. Other TSC-associated neuropsychiatric disorders and drug-resistance in epilepsy were equally frequent in the three groups. This study provides a systematic clinical characterization of patients with TSC and facilitates the delineation of a distinctive phenotype indicative of NMI patients, with important implications for surveillance.

Background and aims Phenylalanine (Phe) restricted diet, combined with Phe-free l -amino acid supplementation, is the mainstay of treatment for phenylketonuria (PKU). Being the diet a key factor modulating gut microbiota composition, the aim of the present paper was to compare dietary intakes, gut microbiota biodiversity and short chain fatty acids (SCFAs) production in children with PKU, on low-Phe diet, and in children with mild hyperphenylalaninemia (MHP), on unrestricted diet. Methods and Results We enrolled 21 PKU and 21 MHP children matched for gender, age and body mass index z-score. Dietary intakes, including glycemic index (GI) and glycemic load (GL), and fecal microbiota analyses, by means of denaturing gradient gel electrophoresis (DGGE) and Real-time PCR were assessed. Fecal SCFAs were quantified by gas chromatographic analysis. Results We observed an increased carbohydrate (% of total energy), fiber and vegetables intakes (g/day) in PKU compared with MHP children (p = 0.047), as well a higher daily GI and GL (maximum p Compared with MHP, PKU showed a lower degree of microbial diversity and a decrease in fecal butyrate content (p = 0.02). Accordingly, two of the most abundant butyrate-producing genera, Faecalibacterium spp. and Roseburia spp., were found significantly depleted in PKU children (p = 0.02 and p = 0.03, respectively). Conclusion The low-Phe diet, characterized by a higher carbohydrate intake, increases GI and GL, resulting in a different quality of substrates for microbial fermentation. Further analyses, thoroughly evaluating microbial species altered by PKU diet are needed to better investigate gut microbiota in PKU children and to eventually pave the way for pre/probiotic supplementations.

Long-term cognitive outcome and treatment of adult early treated (ET)PKU patients is a main issue in PKU research. We questioned whether the intellectual development of ETPKU patients is stable and to what extent its variation may be predicted by the quality of metabolic control. The aims of the present longitudinal retrospective study were to assess in young adult ETPKU patients: i) the relationship between IQ and metabolic control during the first two decades of life; and ii) the intra- and interindividual variability in the developmental trajectory which cannot be predicted by the disease’s biomarkers. We collected biochemical data from 65 ETPKU patients (diagnostic blood Phe > 360 μmol/l) who were assessed twice for IQ (Wechsler Intelligence Scale) during their lifetime (mean age: 10.2 and 19.6 years, respectively). Results show that in ETPKU patients IQ over the second decade of life remained stable in about half of the patients (51%); while the rest experienced a gain (7 to 15 points) or loss (7 to 28 points) in IQ scores (23 and 26% respectively) whatever the quality of metabolic control was. The main factor affecting the second IQ was the value of the first IQ (p

A current aim of nutrigenetics is to personalize nutritional practices according to genetic variations that influence the way of digestion and metabolism of nutrients introduced with the diet. Nutritional epigenetics concerns knowledge about the effects of nutrients on gene expression. Nutrition in early life or in critical periods of development, may have a role in modulating gene expression, and, therefore, have later effects on health. Human breast milk is well-known for its ability in preventing several acute and chronic diseases. Indeed, breastfed children may have lower risk of neonatal necrotizing enterocolitis, infectious diseases, and also of non-communicable diseases, such as obesity and related-disorders. Beneficial effects of human breast milk on health may be associated in part with its peculiar components, possible also via epigenetic processes. This paper discusses about presumed epigenetic effects of human breast milk and components. While evidence suggests that a direct relationship may exist of some components of human breast milk with epigenetic changes, the mechanisms involved are still unclear. Studies have to be conducted to clarify the actual role of human breast milk on genetic expression, in particular when linked to the risk of non-communicable diseases, to potentially benefit the infant’s health and his later life.

The aim of this preliminary study was to explore the effect size of different dietary long chain polyunsaturated supplementations on blood lipid profile in children with primary hyperlipidemia. Thirty-six children (8-13 years) were recruited. After an 8-week stabilization period on the Step I diet, they were randomized to additionally receive for a 16-week period one capsule (500 mg) daily of docosahexaenoic acid (DHA) alone or a DHA plus eicosapentaenoic acid (EPA) mixture (45.6% DHA; 41.6% EPA) or wheat germ oil (control). An effect size (as percentage change from baseline) of +8%, -12% and -16% for high-density lipoprotein cholesterol (HDL-C), total cholesterol/HDL-C ratio and triglycerides was observed in children supplemented with DHA, compared to +2%, -8% and -12%, respectively, in children supplemented with DHA plus EPA. This preliminary study suggests powered trials appear feasible and are warranted to evaluate efficacy of n-3 long-chain polyunsaturated fatty acid dietary supplementations on the blood lipid profile of children with primary hyperlipidemia.

Background and aims No data exist in the current literature on the glycemic index (GI) and glycemic load (GL) of the diet of phenylketonuric (PKU) children. The aims of this study were to examine the dietary GI and GL in PKU children on a low-phenylalanine (Phe)-diet and to evaluate whether an association may exist between the carbohydrate quality and the metabolic profile. Methods Twenty-one PKU children (age 5–11 years) and 21 healthy children, gender and age matched, were enrolled. Dietary (including GI and GL) and blood biochemical assessments were performed. Results No difference was observed for daily energy intake between PKU and healthy children. Compared to healthy controls, PKU children consumed less protein ( p = 0.001) and fat ( p = 0.028), and more carbohydrate (% of total energy, p = 0.004) and fiber ( p = 0.009). PKU children had higher daily GI than healthy children (mean difference (95% confidence interval), 13.7 (9.3–18.3)) and higher GL (31.7 (10.1–53.2)). PKU children exhibited lower blood total and low density lipoprotein cholesterol (LDL) levels ( p p = 0.014) than healthy children, while glucose and insulin concentrations did not differ. In PKU children the dietary GL was associated with triglyceride glucose index (Spearman's correlation coefficient = 0.515, p = 0.034). Conclusion In PKU children a relationship of the dietary treatment with GI and GL, blood triglycerides and triglyceride glucose index may exist. Improvement towards an optimal diet for PKU children could include additional attention to the management of dietary carbohydrate quality.

Wheezing is the most common symptom associated with asthma in young children. There is a lack of well-designed prospective studies on the relationship of exclusive breastfeeding with wheezing in infants. This prospective cohort study investigated whether a relationship exists of exclusive breastfeeding with wheezing at 12 months of age.A series of 1632 mother-infant pairs were sequentially recruited. Mothers were trained at hospital on breastfeeding practices and how to recognise wheezing. At hospital discharge they received a calendar-diary to record the date at stopping breastfeeding and at onset of wheezing. Data were collected by telephone interviews through 12 months post-delivery. Breastfeeding was in accordance with the World Health Organisation and wheezing with the International Classification of Diseases (ICD-10-CM code R06.2).At 12 months 1522 mother-infant pairs were participating. Breastfeeding started in 95.9% of them and was exclusive in 86.1%. The incidence of wheezing ever and recurrent wheezing at 12 months of age was 33.7% and 10.0%, respectively. Duration of exclusive breastfeeding was shorter in wheezing than non-wheezing infants (median 2.6 months vs. 4.1 months, P0.001). After adjustment for confounders each month of exclusive breastfeeding reduced the risk of wheezing ever by 11% and of recurrent wheezing by 15%, at 12 months of age.Longer duration of exclusive breastfeeding reduces the risk of wheezing throughout the first 12 months of life. These findings would be relevant to all healthcare operators and mothers, also to improve their awareness about the best feeding practices for the infant's health.

Salicylic acid (SA), a phenolic compound produced by plants, may play a beneficial role on health. This pilot study evaluated whether there might be an association between serum SA and fruit and vegetable (FV) consumption in obese and normal-weight children. Thirty-four obese children (17 boys and 17 girls) and 34 normal-weight children were recruited. Dietary intake was evaluated by the 7-day dietary record. Serum SA was measured using gas chromatography-mass spectrometry method. FV intake in obese and normal-weight children was not different between groups (175.00 (97.66) g versus 192.29 (90.54) g, p = .455). Obese children had lower serum SA than normal-weight children [mean difference, −0.025; 95% CI (−0.044; −0.006) μmol/L]. Serum SA was not associated with daily intake of FV in obese (p = .111) and normal-weight (p = .092) children. Further studies are needed to evaluate the role of FV on serum SA, taking into account also the quantity and the type.

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by deregulation of the mTOR pathway, and represents one of the leading genetic causes of epilepsy. mTOR inhibitors (Sirolimus and Everolimus) are currently approved only for the treatment of growing subependymal giant cell astrocytomas, renal angiomyolipomas and lymphangioleiomyomatosis in TSC. However, preclinical and clinical evidence supports their potential role in effectively treating TSC-associated epilepsy, but no consensus on its use in seizures has been reached yet and there are few data on epilepsy outcome after the suspension of mTOR inhibitors treatment. We report for the first time on a patient in whom discontinuation of Everolimus (prescribed for growing subependymal giant cell astrocytomas) was associated with a relapse of seizures twice, and control of seizures was regained after reintroducing the medicine. This clinical report supports the promising potential of Everolimus in treating epilepsy in TSC, and specifically underlines the non-permanent effect on seizures after withdrawal.

Atopic dermatitis (AD) is the most common chronic inflammatory skin disease. It affects infancy, but it is also highly prevalent in adults and it is one of the disease burdens for the patients and their families. Nowadays, AD is recognized as a heterogenous disease with different subtypes with variable clinical manifestations which is affected by the impairments of the skin barrier. The severity of AD dictates the level of treatment. Current AD treatment focuses on restoration of the barrier function, mainly through the use of moisturizers and corticosteroids to control the inflammation, topical calcineurin inhibitors, and immunosuppresive drugs in the most severe cases. However, targeted disease-modifying therapies are under investigation. The most recent findings on the skin microbial dysbiosis is a promising future direction for the development of new treatments. We need to improve the understanding of the complex microbiome-host interactions, the role of autoimmunity, the comparative effectiveness of therapies and the ways to appropriately implement the educational strategies.

The relationship of low prepregnant body mass index with breastfeeding was investigated in 1272 women who delivered a term infant with birthweight ≥ 2500 g at the San Paolo Hospital in Milan, Northern Italy. Underweight was defined using the Institute of Medicine’s cutoff of 19.8 kg/m2. Women were interviewed via telephone through 12 months postdelivery about breastfeeding practices. Education level (high versus low, odds ratio [OR], 1.41), primiparity (OR, 1.35), vaginal delivery (OR, 0.74), and birthweight of the infant (normal versus high, OR, 1.89) were associated with low, as opposed to normal, pre-pregnant body mass index. After adjustment for these confounders, no difference was found between underweight and normal weight women for initiation or duration of breastfeeding (mean adjusted difference, 0.4; 95% confidence interval [95% CI], -0.1 to 0.9 months) or exclusive breastfeeding (0.1 [95% CI, -0.1 to 0.3] months). Underweight mothers of healthy term infants may not be at increased risk for not initiating or shorter breastfeeding.

Research findings are inconsistent about improvement of specific cardio-metabolic variables after lifestyle intervention in obese children. The aim of this trial was to evaluate the effect of a 1-year intervention, based on normocaloric diet and physical activity, on body mass index (BMI), blood lipid profile, glucose metabolism and metabolic syndrome. Eighty-five obese children aged ≥6 years were analyzed. The BMI z-score was calculated. Fasting blood samples were analyzed for lipids, insulin and glucose. The homeostatic model assessment of insulin resistance (HOMA-IR) was calculated and insulin resistance was defined as HOMA-IR &gt, 3.16. HOMA-β%, quantitative insulin sensitivity check index and triglyceride glucose index were calculated. The metabolic syndrome was defined in accordance with the International Diabetes Federation criteria. At the end of intervention children showed a reduction (mean (95% CI)) in BMI z-score (−0.58 (−0.66, −0.50)), triglycerides (−0.35 (−0.45, −0.25) mmol/L) and triglyceride glucose index (−0.29 (−0.37, −0.21)), and an increase in HDL cholesterol (0.06 (0.01, 0.11) mmol/L). Prevalence of insulin resistance declined from 51.8% to 36.5% and prevalence of metabolic syndrome from 17.1% to 4.9%. Nutritional-behavioral interventions can improve the blood lipid profile and insulin sensitivity in obese children, and possibly provide benefits in terms of metabolic syndrome.

A great deal of attention has been focused on adverse effects of tobacco smoking on conception, pregnancy, fetal, and child health. The aim of this paper is to discuss the current evidence regarding short and long-term health effects on child health of parental smoking during pregnancy and lactation and the potential underlying mechanisms. Studies were searched on MEDLINE(®) and Cochrane database inserting, individually and using the Boolean ANDs and ORs, 'pregnancy', 'human lactation', 'fetal growth', 'metabolic outcomes', 'obesity', 'cardiovascular outcomes', 'blood pressure', 'brain development', 'respiratory outcomes', 'maternal or paternal or parental tobacco smoking', 'nicotine'. Publications coming from the reference list of studies were also considered from MEDLINE. All sources were retrieved between 2015-01-03 and 2015-31-05. There is overall consistency in literature about negative effects of fetal and postnatal exposure to parental tobacco smoking on several outcomes: preterm birth, fetal growth restriction, low birth weight, sudden infant death syndrome, neurodevelopmental and behavioral problems, obesity, hypertension, type 2 diabetes, impaired lung function, asthma and wheezing. While maternal smoking during pregnancy plays a major role on adverse postnatal outcomes, it may also cumulate negatively with smoking during lactation and with second-hand smoking exposure. Although this review was not strictly designed as a systematic review and the PRISMA Statement was not fully applied it may benefit the reader with a promptly and friendly readable update of the matter. This review strengthens the need to plan population health policies aimed to implement educational programs to hopefully minimize tobacco smoke exposure during pregnancy and lactation.

Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF) criteria has been suggested in children. Docosahexaenoic acid (DHA) has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DHA content in plasma and erythrocytes and components of the metabolic syndrome included in the IDF criteria (obesity, alteration of glucose metabolism, blood lipid profile, and blood pressure) and non-alcoholic fatty liver disease in obese children. The current evidence is inconsistent and no definitive conclusion can be drawn in the pediatric population. Well-designed longitudinal and powered trials need to clarify the possible association between blood DHA status and metabolic syndrome.

Breastfeeding is a well-recognised investment in the health of the mother-infant dyad. Nevertheless, many professionals still advise breastfeeding mothers to temporarily discontinue breastfeeding after contrast media imaging. Therefore, we performed this review to provide health professionals with basic knowledge and skills for appropriate use of contrast media. A joint working group of the Italian Society of Radiology (SIRM), Italian Society of Paediatrics (SIP), Italian Society of Neonatology (SIN) and Task Force on Breastfeeding, Ministry of Health, Italy prepared a review of the relevant medical literature on the safety profile of contrast media for the nursing infant/child. Breastfeeding is safe for the nursing infant of any post-conceptional age after administration of the majority of radiological contrast media to the mother; only gadolinium-based agents considered at high risk of nephrogenic systemic fibrosis (gadopentetate dimeglumine, gadodiamide, gadoversetamide) should be avoided in the breastfeeding woman as a precaution; there is no need to temporarily discontinue breastfeeding or to express and discard breast milk following the administration of contrast media assessed as compatible with breastfeeding. Breastfeeding women should receive unambiguous professional advice and clear encouragement to continue breastfeeding after imaging with the compatible contrast media. • Breastfeeding is a well-known investment in the health of the mother-infant dyad. • Breastfeeding is safe after administration of contrast media to the mother. • There is no need to temporarily discontinue breastfeeding following administration of contrast media.

To determine whether granulocyte-colony stimulating factor and erythropoietin are effective in the therapy of neutropenia and anaemia related to human immunodeficiency virus (HIV) infection and to anti-retroviral agents, we recruited 11 HIV-infected children (mean age 4 years 10 months). All the children were given granulocyte-colony stimulating factor at a dosage of 5 μ-g/kg twice or three times a week while erythropoietin was administered additionally to three patients at a dosage of 50 U/kg twice a week. Both agents were administered subcutaneously for at least 4 months. Leukocyte and neutrophil counts significantly increased during the treatment (after 1 month, P = 0.003 and P = 0.009, respectively). Erythropoietin prevented blood transfusions and increased haemoglobin levels in the three children treated. No side-effects were recorded during the administration of either agent. Granulocyte-colony stimulating factor and erythropoietin appear to be safe and useful agents in the management of HIV-infected children.

The calcium intakes of 35 072 Italian schoolchildren aged 7 – 10 years were investigated as part of a nation-wide survey of nutritional patterns. The Friuli, Piedmont, Latium and Sicily regions of Italy were selected as representative of the nation's north–south and east–west socio-economic divisions. A food-frequency questionnaire was used to assess the nutritional intakes of the whole sample. The validity of the food-frequency questionnaire method was assessed in a sub-sample of children by traditional methods: 24-h dietary recall and a weighted food diary. The data indicate that the mean calcium intakes of girls were below the recommended daily intake of 800 mg in all of the regions except Sicily, and that the calcium intakes of boys were above the recommended daily intake in all of the regions except Friuli. These results suggest that there may be deficiencies in the calcium intakes of this age-group in the wider population, particularly in girls. Food-frequency questionnaires are potentially valuable as part of a multi-method approach in large-scale nutritional monitoring.

Elena M. Faioni*, Gessica Fontana, Giovanni Carpani, Enza D’Auria, Giuseppe Banderali, Gianalessandro Moroni, Marco Cattaneo DMCO, University of Milano and Hematology and Thrombosis Unit, Ospedale San Paolo, Via A. di Rudini, 8, 20142 Milan, Italy Blood Transfusion Center, Ospedale San Paolo, Milan, Italy Department of Pediatrics and Neonatology, University of Milano, Ospedale San Paolo, Milan, Italy

Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive spasticity and/or ataxia, recurrent severe respiratory infections, gastrointestinal problems, mild facial dysmorphisms (midface hypoplasia, depressed nasal bridge, large ears) and epilepsy. Epilepsy can occur in50% of cases, but the types of seizures and the electroclinical findings in affected male individuals have been poorly investigated up to the present. Herein we describe eight patients with MECP2 duplication syndrome and a specific clinical and electroencephalographic pattern.Array CGH of genomic DNA from the probands was performed, and an Xq28 duplication ranging from 209 kb to 6.36 Mb was found in each patient. Electroencephalography studies and clinical and seizure features of all the patients were analyzed.We found that epilepsy tended to occur between late childhood and adolescence. Episodes of loss of tone of the head and/or the trunk were the most represented seizure types. Generalized tonic-clonic seizures were rarely observed. The typical interictal EEG pattern showed abnormal background activity, with generalized slow spike and wave asynchronous discharge with frontotemporal predominance. Sleep electroencephalography studies also demonstrated abnormal background activity; spindles and K complex were often abnormal in morphology and amplitude. Response to therapy was generally poor and drug resistance was a significant feature.Although these cases and a review of the literature indicate that epilepsy associated with MECP2 duplication syndrome cannot be considered a useful marker for early diagnosis, epilepsy is present in90% of adolescent patients and shows a peculiar electroclinical pattern. Consequently, it should be considered a significant sign of the syndrome, and an EEG follow-up of these patients should be encouraged from early childhood. Moreover, the definition of a more specific epileptic phenotype could be useful in order to suspect MECP2 duplication syndrome in older undiagnosed patients.

Three children with acquired immunodeficiency syndrome (AIDS) and chronic anaemia and leucopenia were treated with 5 μg/kg recombinant granulocyte colony-stimulating factor subcutaneously three times a week and 50 IU/kg erythropoietin subcutaneously twice a week. The therapy was not interrupted during the follow-up period. All children showed an increase of leukocyte count and haemoglobin levels. No transfusion was necessary and the number of admissions into hospital fell. These results suggest that combined therapy with granulocyte colony-stimulating factor and erythropoietin may improve leukopenia and anaemia, which is not zidovudine-related, in children who have AIDS.

Determinants of exclusive versus predominant breastfeeding in the maternity ward and the relationship with later feeding practices were investigated in 1656 mothers who breastfed exclusively or predominantly in the maternity ward. Mothers were interviewed through 12 months postdelivery about feeding practices. Information about the World Heath Organization’s (WHO’s) 10 steps was collected. At hospital stay, breastfeeding was predominant in 43% of infants. Cesarean section (odds ratio [OR] = 1.75), mother’s overweight (OR = 1.74), and non-compliance with the WHO’s steps 6 (OR = 1.58), 7 (OR = 1.43), and 8 (OR = 1.76) were determinants of predominant, as opposed to exclusive, breastfeeding. Mothers exclusively, rather than predominantly, breastfeeding in the hospital showed a longer duration of full breastfeeding (mean = 3.6 vs 3.1 months), later introduction of formula (3.8 vs 3.3 months), and lower rate of introduction of formula within 1 month (23% vs 30%). Hospitals need to be compliant with the WHO’s steps, and Baby-Friendly Hospital Initiatives should be promoted.

Aim: To investigate infant feeding practices through the first year of life in Italy, and to identify factors associated with the duration of breastfeeding and early introduction of solid foods. Methods: Structured phone interviews on feeding practices were conducted with 2450 Italian-speaking mothers randomly selected among women who delivered a healthy-term singleton infant in November 1999 in Italy. Interviews were performed 30 d after delivery and when the infants were aged 3, 6, 9 and 12 mo. Type of breastfeeding was classified according to the WHO criteria. Results: Breastfeeding started in 91.1% of infants. At the age of 6 and 12mo, respectively, 46.8% and 11.8% of the infants was still breastfed, 68.4% and 27.7% received formula, and 18.3% and 65.2% were given cow's milk. Solids were introduced at the mean age of 4.3 mo (range 1.6–6.5 mo). Introduction of solids occurred before age 3 and 4 mo in 5.6% and 34.2% of infants, respectively. The first solids introduced were fruit (73.1%) and cereals (63.9%). The main factors (negatively) associated with the duration of breastfeeding were pacifier use (p > 0.0001), early introduction of formula (p > 0.0001), lower mother's age (p > 0.01) and early introduction of solids (p= 0.05). Factors (negatively) associated with the introduction of solids foods before the age of 3 mo were mother not having breastfed (p > 0.01), early introduction of formula (p > 0.01), lower infant bodyweight at the age of 1 mo (p= 0.05) and mother smoking (p= 0.05). Conclusion: The duration of breastfeeding in Italy is still inadequate, as well as compliance with international recommendations for timing of introduction of complementary foods. National guidelines, public messages and educational campaigns should be promoted in Italy.

The antitussive efficacy and tolerability of dropropizine and of its enantiomer levodropropizine were evaluated in children with non-productive cough; 258 were evaluable for tolerability and 254 for efficacy. Patients randomly received either 1 mg/kg dropropizine or 2 mg/kg levodropropizine orally, three times daily for 3 days. There were statistically significant decreases in the frequency of coughing spells and nocturnal awakenings after both levodropropizine and dropropizine treatments ( P < 0.001). Gastrointestinal symptoms were mild in the two groups; somnolence was twice as frequent in the dropropizine group (10.3% vs 5.3%) and the difference is clinically relevant, though not statistically significant. Levodropropizine is as effective as an antitussive as dropropizine, but appears to carry a lower risk of daytime somnolence.