To evaluate the association between the genetic polymorphism of the solute carrier organic anion transporter family member 1B1 (SLCO1B1, also known as organic anion transport polypeptide C) and hyperbilirubinemia in Chinese neonates.
183 infants with hyperbilirubinemia and 192 control subjects from the Fifth People’s Hospital of Shenzhen were recruited. Polymerase chain reaction, restriction fragment length polymorphisms and agarose gel electrophoresis techniques were used to detect genetic variants of SLCO1B1.
The study revealed that SLCO1B1 388 G > A occurred significantly more frequently in neonates with hyperbilirubinemia than in controls (RR = 1.50; 95% CI: 1.13–2.00). There were no significant differences in SLCO1B1 521 T > C between the hyperbilirubinemia and the control group (RR, 1.00; 95% CI, 0.72–1.40). No carriage of the C to A substitution at nucleotide 463 was detected.
The SLCO1B1 388 G > A variant is associated with neonatal hyperbilirubinemia in Chinese neonates.
Polymorphisms; Neonatal hyperbilirubinemia; Case-control study; Organic anion transport polypeptide C
Skin prick tests are the first investigation in allergy diagnostics and their use is described in all the guidelines on atopic eczema. However, the clinical usefulness of skin prick tests is the subject of great debate. On the one hand, skin prick tests allow the identification both of individuals at risk for food allergy and of the allergen inducing the eczematous flare. On the other hand, when performed by a non-specific specialist, positive skin prick tests to foods may wrongly lead to prolonged elimination diets, which may induce nutritional deficiencies and perhaps loss of tolerance to the avoided foods. Furthermore, skin prick tests increase health costs. A consensus on this topic has not yet been reached. Considering the diversity of clinical stages in which it occurs, atopic eczema presentation should be the starting point to determine whether or not skin prick tests should be carried out.
Atopic dermatitis; Atopic eczema; Skin prick test; Food allergy
The exact prevalence of food allergy in the general population is unknown, but almost 12% of pediatric population refers a suspicion of food allergy. IgE mediated reactions to food are actually the best-characterized types of allergy, and they might be particularly harmful especially in children. According to the “hygiene hypothesis” low or no exposure to exogenous antigens in early life may increase the risk of allergic diseases by both delaying the development of the immune tolerance and limiting the Th2/Th1 switch. The critical role of intestinal microbiota in the development of immune tolerance improved recently the interest on probiotics, prebiotics, antioxidants, polyunsaturated fatty acid, folate and vitamins, which seem to have positive effects on the immune functions.
Probiotics consist in bacteria or yeast, able to re-colonize and restore microflora symbiosis in intestinal tract. One of the most important characteristics of probiotics is their safety for human health. Thanks to their ability to adhere to intestinal epithelial cells and to modulate and stabilize the composition of gut microflora, probiotics bacteria may play an important role in the regulation of intestinal and systemic immunity. They actually seem capable of restoring the intestinal microbic equilibrium and modulating the activation of immune cells.
Several studies have been recently conducted on the role of probiotics in preventing and/or treating allergic disorders, but the results are often quite contradictory, probably because of the heterogeneity of strains, the duration of therapy and the doses administered to patients. Therefore, new studies are needed in order to clarify the functions and the utility of probiotics in food allergies and ion other types of allergic disorders.
Food allergy; Probiotics; Allergic disease; Intestinal microbiota; Children
Transcutaneous bilirubinometry is widely used to predict hyperbilirubinemia by using several devices. The aim of this study was to compare the predictive ability of BiliCheck vs JM-103 in identifying neonates not at risk of significant hyperbilirubinemia, putting the data obtained with the two instruments on our transcutaneous bilirubin nomogram built with the BiliCheck.
Transcutaneous bilirubin (TcB) measurement was performed when jaundice appeared in newborn babies and/or just before discharge from the hospital. It was performed at the forehead with the two instruments within 5 minutes by two experienced neonatologists, each one blind to the value obtained by the other. Blood samples were drawn to obtain total serum bilirubin (TSB) levels soon after TcB measurements.
A total of 627 paired-sample measurements were obtained from 298 newborn babies. Out of the total population studied, 16 newborn babies (5.4%) showed significant hyperbilirubinemia defined as TSB value >17 mg/dL, or as need for phototherapy treatment according to the AAP guidelines. TcB measurements showed false negative results in the first 60 hours of life using both devices. After the 60th hour of life, TcB measurements using both devices successfully predicted newborn babies not at risk of significant hyperbilirubinemia, being the JM-103 more reliable than BC because of fewer false positive results.
Our study shows that both BC and JM-103 can exclude subsequent significant hyperbilirubinemia when the measurements are performed after the 60th hour of life. Nevertheless, the transcutaneous pre-discharge screening should be considered only as the first step, and it has to be followed by a follow-up through the first days after discharge.
Newborn; Neonatal jaundice; Transcutaneous bilirubin measurements
VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies.
Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia.
Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype).
The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.
Esophageal atresia; Tracheo-esophageal fistula; VATER; VACTERL; Association; Congenital malformations; Anomalies
The role of breakfast as an essential part of an healthy diet has been only recently promoted even if breakfast practices were known since the Middle Age. The growing scientific evidences on this topic are extremely sector-based nevertheless breakfast could be regarded from different point of views and from different expertises. This approach, that take into account history, sociology, anthropology, medicine, psychology and pedagogy, is useful to better understand the value of this meal in our culture. The aim of this paper was to analyse breakfast-related issues based on a multidisciplinary approach with input by specialists from different fields of learning.
Breakfast is now recommended as part of a diet because it is associated with healthier macro- and micronutrient intakes, body mass index and lifestyle. Moreover recent studies showed that breakfast improves cognitive function, intuitive perception and academic performance. Research demonstrates the importance of providing breakfast not only to children but in adults and elderly too. Although the important role breakfast plays in maintaining the health, epidemiological data from industrialised countries reveal that many individuals either eat a nutritionally unhealthy breakfast or skip it completely.
The historical, bio-psychological and educational value of breakfast in our culture is extremely important and should be recognized and stressed by the scientific community. Efforts should be done to promote this practice for the individual health and well-being.
Breakfast; Dietary choices; Diet; Multidisciplinary approach; Nutrition
This study aims to investigate the incidence and the relative risk factors of retinopathy of prematurity (ROP) and posterior-ROP (P-ROP): ROP in Zone I and posterior Zone II, as well as to analyze the occurrence of surgical treatment of ROP and to evaluate the short term outcome of the disease in Italy.
It is a prospective multicenter observational study; all infants with a birth weight (BW) ≤ 750 g and/or a gestational age (GA) ≤27 weeks born between January 1st 2008 and December 31st 2009 in 25 III level Italian neonatal intensive care units were eligible for the study.
421 infants were examined: 265 (62.9%) developed ROP and 102 (24.2%) P-ROP.
Following the multivariate analysis erythropoietin-therapy (p < 0.0001) and intraventricular hemorrhage (IVH) (p = 0.003) were significantly associated with ROP while gestational age ≤24 weeks (p = 0.011) and sepsis (p = 0.002) were associated with the onset of P-ROP. Eighty nine infants (34%) required surgical treatment; following the multivariate analysis P-ROP was an independent factor associated with the need of surgical treatment (p < 0.0001). A favorable outcome was reported in 251 (94.7%) newborns affected by ROP. Adverse outcome occurred in 14 patients: all of them underwent surgery and showed P-ROP.
P-ROP is the most aggressive type of ROP. It associates with lower GA and sepsis. Obstetricians and Neonatologists must focus on the reduction of severe preterm births and on the prevention of neonatal early and late onset sepsis in order to reduce the incidence of P-ROP.
Retinopathy of prematurity (ROP); Posterior ROP; Plus-disease; Laserterapy; Extremely preterm infants
Background and methods
Soluble-lymphocyte subsets (sCD19 + CD23+ B cells and sCD4 + CD25+ T cells), soluble-adhesion molecules (sE-selectin) and interleukin-12 (sIL-12) were assayed to evaluate the pathogenesis of steroid sensitive nephrotic syndrome in 48 patients diagnosed with steroid sensitive nephrotic syndrome (SSNS) in active (AS) and remission stages (RS).
The ratios of soluble CD19 and sCD19 + CD23 increased in patients with AS with respect to the patients with RS and controls (p < 0.05). Increased sCD19 + CD23 ratios were preserved in the patients with RS when compared with the controls (p < 0.05). Moreover, the ratios of sCD4 + CD25 lymphocyte subsets were not significantly different among the groups. Similarly, serum sIL-12 levels were not considerably disparate between the AS and RS. Serum sE-selectin levels were higher in the patients with AS relative to the controls (p < 0.01) and RS (p < 0.05). No significant correlations were noted between sE-selectin and lymphocyte subset ratios, serum sIL-12 and immunoglobulin levels. There was a positive correlation between sE-selectin, triglyceride (r = 0.757, p < 0.0001) and cholesterol (r = 0.824, p < 0.0001) levels in patients with the AS.
The present results indicate that the patients with SSNS appear to have abnormalities in sCD23 + CD19+ cells, defect in T regulatory cell activity, and injury in endothelial cells as indicated by the presence high sE-selectin. These abnormalities might play a role in the pathogenesis of nephrotic syndrome. sIL-12 seems to have no role in pathogenesis of nephrotic syndrome reflecting normal Th1 response.
Steroid sensitive nephrotic syndrome; sCD19 + CD23+ B cells; sCD4 + CD25+ T cells; sE-selectin; Interleukin-12
In order to help assess resident performance during training, the Residency Affair Committee of the Pediatric Residency Program of the University of Padua (Italy) administered a Resident Assessment Questionnaire (ReAQ), which both residents and faculty were asked to complete. The aim of this article is to present the ReAQ and its validation.
The ReAQ consists of 20 items that assess the six core competencies identified by the Accreditation Council of Graduate Medical Education (ACGME). A many-facet Rasch measurement analysis was used for validating the ReAQ.
Between July 2011 and June 2012, 211 evaluations were collected from residents and faculty. Two items were removed because their functioning changed with the gender of respondents. The step calibrations were ordered. The self evaluations (residents rating themselves) positively correlated with the hetero evaluations (faculty rating residents; Spearman’s ρ = 0.75, p < 0.001). Unfortunately, the observed agreement among faculty was smaller than expected (Exp = 47.1%; Obs = 41%), which indicates that no enough training to faculty for using the tool was provided.
In its final form, the ReAQ provides a valid unidimensional measure of core competences in pediatric residents. It produces reliable measures, distinguishes among groups of residents according to different levels of performance, and provides a resident evaluation that holds an analogous meaning for residents and faculty.
Resident; Pediatrics; Evaluation; Medical residency
Methadone is commonly prescribed as a substitute for illicit opioids. Use of methadone during pregnancy is associated with neonatal abstinence syndrome (NAS), reduced head circumference as well as a slight increase in neonatal mortality and morbidity. Less is known about the effects of methadone on the visual system.
We report two Italian cases of nystagmus in infants born from mothers exposed to methadone during pregnancy. Ophthalmic or central disorders were excluded as a cause of nystagmus in both infants. The first case was followed at 3, 6 and 12 months while the second one was evaluated at 5 and 8 months. Both infants had normal neurological and cognitive development. Their first evaluation revealed different characteristics but both showed progressive improvement in ocular disorder, persistence of pendular horizontal nystagmus and nearly normal visual acuity.
This report, the first description of Italian cases of nystagmus related to use of methadone during pregnancy, underlies the importance of a careful investigation of drug use in pregnancy in cases of unexplained congenital nystagmus.
Congenital nystagmus; Methadone; Pregnancy
Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation is often associated. The triple A syndrome gene, designated AAAS, is localized on chromosome 12q13. It consists of 16 exons, encoding for a 546 aminoacid protein called ALADIN (Alacrimia-Achalasia-aDrenal Insufficiency Neurologic disorder).
We report on a 13 year-old boy presenting with Addison’s disease, dysphagia, muscle weakness, excessive fatigue and recent onset gait ataxia. The analysis of the AAAS gene revealed a homozygous missense mutation in exon 12. It was a T > G transversion at nucleotide position 1224, resulting in a change of leucine at amino acid position 381 into arginine (Leu381Arg or L381R). Brain appearance was found normal at magnetic resonance imaging (MRI) and functional spectroscopy analysis showed normal levels of the main metabolites. Spine MRI showed a cystic cavity within the spinal cord (syringomyelia), localized between the sixth cervical vertebra and the first thoracic vertebra. Cerebellar tonsils descended 7 mm caudal to foramen magnum, consistently with a mild type 1 Chiari malformation. Mild posterior inter-vertebral disk protrusions were evident between T9 and T10 and between L4 and L5.
To our knowledge, this is the first report describing type 1 Chiari malformation and multiple spinal cord abnormalities in a patient with Allgrove syndrome.
Allgrove syndrome; Achalasia; Alacrimia; Adrenal failure; Syringomyelia
Male circumcision (MC) is one of the oldest and most common operations performed all over the world. It can be performed at different ages, using different surgical techniques, for different religious, cultural and medical reasons.
Our aim is to examine and compare the various methods of analgesia and different surgical procedures reported in literature that are applied in infant MC. We performed a PubMed, MEDLINE, EMBASE and Cochrane search in the papers published since 2000: 14 studies met the inclusion criteria, most of them showing that a combined pharmacological and non-pharmacological intervention is the best analgesic option, in particular when the dorsal penile nerve block is combined with other treatments. The Mogen surgical procedure seems to be the less painful surgical intervention, when compared with Gomco clamp or PlastiBell device. Only 3 papers studied groups of at least 20 babies each with the use of validated pain scales. Data show a dramatic decrease of pain with dorsal penile nerve block, plus acetaminophen associated to oral sucrose or topic analgesic cream. However, no procedure has been found to definetively eliminate pain; the gold standard procedure to make MC totally painfree has not yet been established.
Male circumcision (MC); Newborn; Analgesia; Pain management
Therapeutic options currently available for neonatal seizures are still unsatisfactory both in terms of efficacy and of risk for long-term neurotoxicity, even if there is growing recognition of their potential to worsen neurodevelopmental outcome. A recent paper by Slaughter and colleagues entitled “Pharmacological treatment of neonatal seizures: a systematic review” has been published with the aim to provide a treatment algorithm, but, due to the relative paucity of clinical studies, it relies mainly on traditional antiepileptic drugs and does not distinguish between different neonatal populations, especially preterm and hypothermic neonates, who might require a dedicated approach in order to improve seizure control and reduce side effects.
Neonatal seizures; Therapy; Antiepileptics; Anticonvulsants; Newborns
A deficiency in vitamin D (25OHD) is common throughout the world in both adults and children, being related to skin pigmentation, sun exposure, dietary intake and obesity. Limited data are available for the neonatal age. The aim of the study is to understand the differences in 25OHD levels with respect to skin colour and ethnicity in newborns.
We randomly enrolled 62 neonates, born at term and appropriate for gestational age. Thirty two were born from Italian mothers with fair skin (FS) and 30 from non-Caucasian mothers (North African, African, Asian and Latin American): 10 with light olive/light brown (LOB) and 20 with medium brown/black skin (MBB). Vitamin D was measured in the cord blood at birth and in neonatal serum during metabolic screening.
25OHD levels were (mean ± SD) 21.4 ± 11 ng/ml in cord blood and 14.9 ± 7 ng/ml in serum after birth. 25OHD values were higher in cord blood (p < 0.01) and neonatal serum (p < 0.001) in subjects supplemented with Vitamin D. Newborn FS showed higher vitamin D levels in cord blood when compared to LOB and MBB (p < 0.01), and higher levels in neonatal serum when compared to LOB (p < 0.01). In cord blood, 25OHD levels were higher in Italian newborns than in North African (p < 0.004) and African (p < 0.01). In neonatal serum, 25OHD levels were higher in Italian infants only when compared with North African infants (p < 0.03).
The present study shows a high prevalence of vitamin D insufficiency and deficiency in newborns with significant differences observed to be due to ethnicity, skin colour and maternal supplementation during the pregnancy.
Vitamin D; Newborn; Ethnicity; Skin colour
Sickle Cell Disease (SCD) is the most common genetic disease worldwide. Neurological events are among the most worrisome clinical complications of SCD and are frequently accompanied by cognitive impairment. Intellectual function in SCD may vary according to genetic and environmental factors. Immigrant children with SCD are increasing at a global level and display specific health care needs. The aim of our multicenter study was to describe the intellectual function of first generation African immigrants with SCD and the influence of sociodemographic factors on its characteristics.
The Wechsler Intelligence Scales were administered to evaluate broad intellectual functions in children with SCD and in age-matched healthy siblings. Patients’ clinical, socio-demographic, Magnetic Resonance Imaging (MRI) and Angiography (MRA) data were correlated to intellectual function scores.
68 children, mean age 8.95 years were evaluated. 72% spoke three languages, 21% two. FSIQ was <75 in 25% of the children. Mean VIQ was lower than PIQ in 75%. Mean verbal subtest scores were lower than performance scores. Female gender, number of languages spoken at home and mother’s employment were associated with single subtest performances (p < 0.05). MRA was abnormal in 73.4% and MRI in 35.9%. No significant correlation was established between silent lesions and intellectual function, even if patients with lesions performed worse. Fifteen siblings performed better than patients on cognitive domains, including language (p < 0.05).
Immigrant bilingual children with SCD seem to display a rate of cognitive impairment similar to their monolingual counterparts but a more pronounced and precocious onset of language difficulties. Adjunctive tests need to be considered in this group of patients to better define their specific deficits.
The incidence of severe acute respiratory tract infections in children caused by Mycoplasma pneumoniae (syn. Schizoplasma pneumoniae) and Chlamydophila pneumoniae (formerly Chlamydia pneumoniae) varies greatly from year to year and place to place around the world. This study investigated the epidemiology of M. pneumoniae and C. pneumoniae infections among children hospitalized with acute respiratory infections in Suzhou, China in the year 2006, and associations between incidence rates and climatic conditions.
Nasopharyngeal aspirates obtained from 1598 patients (aged 26.4 ± 28.3 months; range, 1 month to 13 years) were analyzed with real-time PCR and ELISA. Meteorological data were obtained from the weather bureau.
About 18.5% of patients were infected with M. pneumoniae and, C. pneumoniae, or both. Isolated M. pneumoniae infection was positively correlated with increasing age (χ2 = 34.76, P < 0.0001). Incidence of M. pneumoniae infection was seasonal with a peak in summer (P < 0.0001) and minimum in winter (P = 0.0001), whereas C. pneumoniae infection was low only in autumn (P = 0.02). Monthly mean temperature was strongly correlated with the incidence of M. pneumoniae infection (r = 0.825, P = 0.001).
M. pneumoniae and C. pneumoniae are important infectious agents in hospitalized children with acute respiratory tract infections. M. pneumoniae infection showed a strong direct correlation with environmental temperature.
Acute respiratory tract infection; Mycoplasma pneumoniae; Chlamydophila pneumoniae; Epidemiology; China
3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn of metabolism due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme involved both in the ketogenic pathway and leucine catabolism. Acute decompensations present with lethargy, cianosis, hypotonia, vomiting and metabolic acidosis with hypoketotic hypoglycemia. We report the case of a 3 days male with sudden hypoglycemic crisis initially misdiagnosed as a sepsis. HMG-CoA lyase deficiency was achieved through acyl-carnitines profile (showing a typical increasing of 3-hydroxy-isovaleryl and 3-methylgluraryl carnitines) and urinary organic acids analysis (disclosing elevation of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids). This case underlines the need of suspecting such inborn metabolic disorder in cases with hypoglycemia and metabolic acidosis. Acyl-carnitine and urinary organic acids profiles are essential to achieve a prompt diagnosis of treatable metabolic disorders in order to prevent their acute crisis with serious or even fatal consequences.
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.
Dyke-Davidoff-Masson syndrome; Fetal ventriculomegaly; Cerebral hemiatrophy; Contrast enhanced-MRI angiography; Developmental delay; Hemiparesis
Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow’s milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option.
Infant with FPIES presented to our emergency department with vomiting, watery stools, hypothension and metabolic acidosis after ingestion of rice beverage. Intravenous fluids and steroids were administered with good clinical response. Subsequently, a double blind placebo control food challenge (DBPCFC) was performed using rice beverage and hydrolyzed formula (eHF) as placebo. The “rice based formula” induced emesis, diarrhoea and lethargy. Laboratory investigations reveal an increase of absolute count of neutrophils and the presence of faecal eosinophils. The patient was treated with both intravenous hydration and steroids. According to Powell criteria, oral food challenge was considered positive and diagnosis of FPIES induced by rice beverage was made. Patient was discharged at home with the indication to avoid rice and any rice beverage as well as to reintroduce hydrolyzed formula. A case of FPIES induced by rice beverage has never been reported. The present case clearly shows that also beverage containing rice proteins can be responsible of FPIES. For this reason, the use of rice beverage as cow’s milk substitute for the treatment of non IgE-mediated food allergy should be avoided.
Allergy; Enterocolitis; Rice beverage; Proteins
Dysphagia is a known complication in Pompe Disease (PD), a severe metabolic myopathy due to alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) with alglucosidase alfa is the only approved therapy for PD. Presently no data are available on the effects of ERT on dysphagia in PD patients. The aim of this work is to evaluate the course of this complication in a 6 years old boy affected by PD after treatment with ERT.
Dysphagia was assessed by Videofluoroscopic Swallowing Study (VFSS) at baseline, before the start of ERT and after 36 months of therapy. We used the Dysphagia Severity Rating Scale (DSS) to define the severity grade of dysphagia.
VFSS performed at baseline revealed complete incoordination of oral stage swallowing which was classified as a grade 1 dysphagia according to DSS. After 36 months of treatment VFSS revealed normal swallowing, classified as grade 0 by DSS.
Our results suggest that ERT is effective in improving dysphagia. VFSS may be a useful tool to investigate and monitor swallowing disorders in patients affected by PD.
Glycogen storage disease type II; Deglutition disorders; Enzyme replacement therapy
Feeding small for gestational age (SGA) newborns is extremely challenging and the neonatologist should be brave and cautious at the same time. Although these babies have a high risk of milk intolerance and necrotising enterocolitis, enteral feeding guidelines are not well established and practice varies widely among different neonatal units. Currently available studies on this topic include extremely and very low birth weight neonates, but are not focused specifically on small for gestational age infants. This review analyzes papers focused on feeding interventions in order to provide the best available evidences about the optimum timing for introduction of enteral feeding, how fast feed volume can be advanced, which milk and which feeding method is more appropriate in SGA infants.
Newborn; Small for gestational age; Feeding; Nutrition
Recurrent respiratory infections are one of the most important causes of morbidity in childhood. When immune functions are still largely immature, the airway epithelium plays a primary defensive role since, besides providing a physical barrier, it is also involved in the innate and the adaptive immune responses. A study was therefore designed to evaluate in vitro whether pidotimod, a synthetic dipeptide able to stimulate the inflammatory and immune effector cells, could activate bronchial epithelial cell functions involved in response to infections.
BEAS-2B cell line (human bronchial epithelial cells infected with a replication-defective Adenovirus 12-SV40 virus hybrid) were cultured in the presence of pidotimod, with or without tumor necrosis factor (TNF)-α or zymosan to assess: a) intercellular adhesion molecule (ICAM)-1 expression, by flow cytometry; b) toll-like receptor (TLR)-2 expression and production, by immunofluorescence flow cytometry and western blotting; d) interleukin (IL)-8 release, by enzyme-linked immunosorbent assay (ELISA); e) activated extracellular-signal-regulated kinase (ERK1/2) phosphorylation and nuclear factor-kappa B (NF-kB) activation, by western blotting.
The constitutive expression of ICAM-1 and IL-8 release were significant up-regulated by TNF-α (ICAM-1) and by TNF-α and zymosan (IL-8), but not by pidotimod. In contrast, an increased TLR-2 expression was found after exposure to pidotimod 10 and 100 μg/ml (p < 0.05) and to the association pidotimod 100 μg/ml + TNF-α (p < 0.05). Western blot analysis substantiated that the constitutive TLR-2 expression was significantly increased after exposure to all the stimuli. Finally, while a remarkable inhibition of TNF-α -induced ERK1/2 phosphorylation was observed in the presence of pidotimod, both TNF-α and pidotimod were effective in inducing NF-kB protein expression in the cytoplasm and its nuclear translocation.
Through different effects on ERK1/2 and NF-kB, pidotimod was able to increase the expression of TLR-2 proteins, surface molecules involved in the initiation of the innate response to infectious stimuli. The lack of effect on ICAM-1 expression, the receptor for rhinovirus, and on IL-8 release, the potent chemotactic factor for neutrophils (that are already present in sites of infection), may represent protective functions. If confirmed in vivo, these activities may, at least in part, clarify the mechanism of action of this molecule at airway level.
Recurrent respiratory infections; Immunostimulants; Toll like receptor-2; ICAM-1
In this review, we summarize the progresses in allergy, endocrinology, gastroenterology, hematology, infectious diseases, neurology, nutrition and respiratory tract illnesses that have been published in The Italian Journal of Pediatrics in 2012. The induction of Treg activity by probiotics might be effective for promoting tolerance towards food allergens. Nasal cytology is useful in patients with rhinitis for diagnosing chronic non-allergic non-infectious diseases. Atopic eczema is associated both with an aberrant skin matrix and impaired systemic immune response. Therefore, isolated topical treatment may have suboptimal effect. Diagnostic work-up of exercise-induced anaphylaxis, including exercise challenge test, is necessary to reach a diagnosis. Studies may support a role for nutrition on prevention of asthma and cardiovascular diseases. Clinicians need to early identify adolescent menstrual abnormalities to minimize sequelae, and to promote health information. In Multiple Endocrine Neoplasia type 2B investigations include acetylcholinesterase study of rectal mucosa followed by the molecular analysis of RET mutation. Low adherence to gluten-free diet and osteopenia are common problems in children with diabetes mellitus type 1 and celiac disease. In infantile colic, laboratory tests are usually unnecessary and the treatment is based on reassurance. Prevalence of obesity and stunting is elucidated by several studies. Evidences are growing that dietetic measures are needed to prevent obesity in children with acute leukemia. Treatment studies for infectious diseases show promise for probiotics along with standard triple therapy in children with Helicobacter pilori infection, while zinc has no effect on pneumonia. Educational programs about the proper management of the febrile child are warranted. A new hour-specific total serum bilirubin nomogram has been shown to be able to predict newborns without hyperbilirubinemia after 48 to 72 hours of life. Newborns with hypoxic-ischemic encephalopathy present ECG and cardiac enzymes alterations leading to reduced neonatal survival. Rehabilitation programs including sensory integration therapy and motor performance, may improve activities of daily life in children with developmental coordination disorder. Aerobic exercise training in addition to chest physiotherapy might be useful in children with cystic fibrosis. Studies on effectiveness of leukotriene receptor antagonists, alone or with other drugs in preschool wheezing are needed.
Allergy; Endocrinology; Gastroenterology; Hematology; Infectious diseases; Neurology; Nutrition; Respiratory tract illnesses
Antibiotic resistance is one of the most serious public health concerns worldwide and is increasing at an alarming rate, making daily treatment decisions more challenging. This study is aimed at identifying local bacterial isolates and their antimicrobial susceptibility patterns to avoid irrational antibiotic use, especially in settings where unguided management occurs and febrile illnesses are predominant.
Material and methods
A hospital-based prospective cross-sectional study was conducted from September 2011 to February 2012. Febrile children were serially recruited and demographic and clinical data were collected using a standardized data collection tool. A blood culture was performed and identification of the isolates was undertaken using in-house biochemical tests. Susceptibility to common antibiotics was investigated using the disc diffusion methods.
Of the 1081 children admitted during the study period, 317 (29.3%) met the inclusion criteria and were recruited, of whom 195 (61.5%) and 122 (38.5%) were male and female respectively. The median age was 18 months with an interquartile range of 9 to 36 months. Of the 317 children, 251 (79.2%) were below or equal to 36 months of age. The prevalence of bacteremia was 6.6%. A higher prevalence of bacteraemia was observed in children below 36 months than in those ≥ 36 months (7.5% vs. 3.0%, p = 0.001). Predictors of bacteraemia were an axillary temperature of >38.5 °C (OR =7, 95% CI = 2.2 - 14.8, p-value = 0.0001), a positive malaria slide (OR =5, 95% CI = 3.0 - 21.2, p-value = 0.0001) and a high neutrophils’ count (OR =21 95% CI = 5.6 - 84, p-value = 0.0001). Escherichia coli and Klebsiella pneumoniae accounted for 7 (33.3%) and 6 (28.6%) of all the isolates respectively. Others gram-negatives bacteria were Citrobacter spp 2 (9.5%), Enterobacter spp 1 (4.25%), Pseudomonas spp 2 (9.5%), Proteus spp 1 (4.25%) and Salmonella spp 1 (4.25%). These isolates were highly resistant to ampicillin (95%), co-trimoxazole (90%), tetracycline (90%), gentamicin (80%), augmentin (80%), chloramphenicol (65%), ceftriaxone (35%), cefotaxime (35%) ciprofloxacin (30%), amikacin (30%), ceftazidime (25%) and norfloxacine (10%).
Multi-resistant gram-negative bacteria are the commonest cause of bacteremia in under-fives attending the Bugando Medical Centre, Mwanza, Tanzania. A high body temperature, a positive malaria slide and a high absolute neutrophils’ count were all independent risk factors found to predict bacteremia. A higher mortality rate was observed in children with bacteraemia. Continuous epidemiological surveillance should be conducted so that a proper and effective antibiotics management can be instituted, especially in children with a high grade fever, a positive malaria slide and a high neutrophils’ count.
Hepcidin is classified as a type II acute phase protein; its production is a component of the innate immune response to infections.
To evaluate the alterations of serum hepcidin in children during and following an acute febrile infection.
Materials and methods
22 children with fever of acute onset (< 6 hours) admitted to the 2nd Department of Pediatrics-University of Athens. Based on clinical and laboratory findings our sample formed two groups: the viral infection group (13 children) and the bacterial infection group (9 children). Hepcidin, ferritin and serum iron measurements were performed in all subjects.
Serum hepcidin values did not differ notably between children with viral and bacterial infection, but a significant reduction of hepcidin was noted in both groups post-infection.
Our study provides clinical pediatric data on the role of hepcidin in the face of an acute infection. In our sample of children, hepcidin was found to rise during the acute infection and fall post-infection.
Hepcidin; Acute infection; Children; Marker