Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.
RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.
The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
CREBBP; Intellectual disability; Plurimalformative syndrome; Rubinstein syndrome; Rubinstein-Taybi syndrome
children; cord blood platelet gel; epidermolysis bullosa; paediatric dermatology; platelet gel
As healthy children are the main reservoir of respiratory pathogens and the main cause of bacterial diffusion in the community, it could be interesting to investigate the type of screening that should be used during the early years of life in order to obtain a more precise estimate of Staphylococcus aureus circulation. The aim of this study was to evaluate oropharyngeal and nasal S. aureus carriage in otherwise healthy children and adolescents aged 6–17 years.
The oropharyngeal and nasal samples were collected in December 2013 from 497 healthy students attending five randomly selected schools in Milan, Italy, using an ESwab kit, and S. aureus was identified using the RIDA®GENE methicillin-resistant S. aureus (MRSA) system.
Two hundred and sixty-four subjects (53.1%) were identified as S. aureus carriers: 129 (25.9%) oropharyngeal carriers and 195 (39.2%) nasal carriers, of whom 60 (12.1%) were both oropharyngeal and nasal carriers. Oropharyngeal carriage increased with age (p < 0.001), whereas nasal carriage decreased. There was little or no agreement between oropharyngeal and nasal carriage in any of the age groups. MRSA was identified in only three cases (0.6%), always in nasal samples. There were no differences between the carriers and non-carriers in terms of the distribution of age, gender, ethnicity, the number of siblings in the household, exposure to passive smoking, previous clinical history, allergic sensitisation, or previous influenza, pneumococcal and meningococcal vaccinations. The frequency of male children was higher among the subjects with positive nasal and oropharyngeal swabs (66.7%) than among those with positive oropharyngeal swabs alone (46.4%; p = 0.02).
The oropharyngeal carriage of mainly methicillin-sensitive S. aureus is frequent in otherwise healthy children, including a relatively high proportion of those without nasal colonisation. These findings highlight the importance of adding throat to nasal screening when monitoring the circulation of S. aureus in the community.
Methicillin-resistant Staphylococcus aureus; Methicillin-sensitive Staphylococcus aureus; MRSA; MSSA; Staphylococcus aureus
Over the years 2009–2013, we conducted a prospective study within a network established by the Italian Society of Pediatrics to describe the in-hospital management of children hospitalized for acute bacterial meningitis in 19 Italian hospitals with pediatric wards.
Hospital adherence to the study was voluntary; data were derived from clinical records. Information included demographic data, dates of onset of first symptoms, hospitalization and discharge; diagnostic evaluation; etiology; antimicrobial treatment; treatment with dexamethasone; in-hospital complications; neurological sequelae and status at hospital discharge. Characteristics of in-hospital management of patients were described by causative agent.
Eighty-five patients were identified; 49.4% had received an antimicrobial treatment prior to admission. Forty percent of patients were transferred from other Centers; the indication to seek for hospital care was given by the primary care pediatrician in 80% of other children. Etiological agent was confirmed in 65.9% of cases; the most common infectious organism was Neisseria meningitidis (34.1%), followed by Streptococcus pneumoniae (20%). Patients with pneumococcal meningitis had a significant longer interval between onset of first symptoms and hospital admission. Median interval between the physician suspicion of meningitis and in-hospital first antimicrobial dose was 1 hour (interquartile range [IQR]: 1–2 hours). Corticosteroids were given to 63.5% of cases independently of etiology; 63.0% of treated patients received dexamethasone within 1 hour of antibiotic treatment, and 41.2% were treated for ≤4 days. Twenty-nine patients reported at least one in-hospital complication (34.1%). Six patients had neurological sequelae at discharge (7.1%). No deaths were observed.
We observed a rate of meningitis sequelae at discharge similar to that reported by other western countries. Timely assistance and early treatment could have contributed to the favorable outcome that was observed in the majority of cases. Adherence to recommendation for corticosteroid adjunctive therapy seems suboptimal, and should be investigated in further studies. Most meningitis cases were due to N. meningitidis and S. pneumoniae. Reaching and maintaining adequate vaccination coverage against pneumococcal and meningococcal invasive infections remains a priority to prevent bacterial meningitis cases.
Bacterial meningitis; Children; Meningitis sequelae; Neisseria meningitidis; Streptococcus pneumoniae
In the immune system, the serum levels of immunoglobulin (Ig) increase gradually during ageing. Through B cell development, the Ig heavy chain expression is modulated by a regulatory region at the 3’ of the constant alpha gene (3’RR), in single copy in rodents and, due to a large duplication, in two copies in apes. The human 3’RR1 and 3’RR2 are both characterized by three enhancers, the central of which, namely hs1.2, is highly polymorphic. Human hs1.2 has four different variants with unique binding sites for transcription factors (e.g. NF-kB and SP1) and shows variable allelic frequencies in populations with immune disorders. In previous works, we have reported that in several autoimmune diseases the *2 allele of hs1.2 is genetically associated to high level of IgM in peripheral blood. In subjects with altered levels of circulating Ig, an increased level was associated to *2 allele of hs1.2 and low levels corresponded to high frequency of *1 allele.
During ageing there is a physiological increase of Ig concentrations in the serum. Therefore, for this study, we hypothesized that the hs1.2 variants may impact differently the levels of secreted Ig during the growth.
We have correlated the allelic frequencies of hs1.2 with IgM, IgG and IgA serum concentrations in two cohorts of healthy people of different age and after three years follow-up in children homozygous for the allele. Here we show that when the expression levels of Ig in children are low and medium, the frequencies of *1 and *2 alleles are the same. Instead, when the Ig expression levels are high, there is a significantly higher frequency of the allele *2. The follow-up of children homozygous for *1 and *2 alleles showed that the increase or decrease of circulating Ig was not dependent on the number of circulating mature B cells.
These data support the idea that under physiologic condition there is a switch of regulative pathways involved in the maturation of Ig during ageing. This mechanism is evidenced by hs1.2 variants that in children but not in adults participate to Ig production, coordinating the three class levels.
Electronic supplementary material
The online version of this article (doi:10.1186/s12865-014-0045-0) contains supplementary material, which is available to authorized users.
Genotyping; B cell markers; Immunoglobulin heavy chain; Enhancer hs1.2; Immune system regulation; NF-κB; SP1; Transcription factor consensus; Aging
Before a protein vaccine is introduced into a country, it is essential to evaluate its potential impact and estimate its benefits and costs. The aim of this study was to determine the genetic characteristics of Neisseria meningitidis B (NmB) in the pharyngeal secretions of 1375 healthy adolescents aged 13–19 y living in Milan, Italy, in September 2012, and the possible protection offered by the two currently available NmB protein vaccines. Ninety-one subjects were Nm carriers (6.6%), 29 (31.9%) of whom carried the NmB capsular gene. The 29 identified strains belonged to eight clonal complexes (CCs), the majority of which were in the ST-41/44/Lin.3 CC (n = 11; 37.9%). All of the identified strains harboured ƒHbp alleles representing a total of 15 sub-variants: the gene for NHBA protein was found in all but three of the studied strains (10.3%) with 13 identified sub-variants. There were 15 porA sub-types, seven of which were identified in just one CC. The findings of this study seem to suggest that both of the protein vaccines proposed for the prevention of invasive disease due to NmB (the 4-protein and the 2-protein products) have a composition that can evoke a theoretically effective antibody response against the meningococcal strains currently carried by adolescents living in Northern Italy. The genetic characteristics of NmB strains can be easily evaluated by means of molecular methods, the results of which can provide an albeit approximate estimate of the degree of protection theoretically provided by the available vaccines, and the possible future need to change their composition.
meningococcal vaccine; meningococcus B; meningococcus B vaccine; Neisseria meningitides; invasive bacterial disease
Relatively common in adults, intestinal tuberculosis is considered rare in children and adolescents. The protean manifestations of intestinal tuberculosis mean that the diagnosis is often delayed (sometimes even for years), thus leading to increased mortality and unnecessary surgery. The main diagnostic dilemma is to differentiate intestinal tuberculosis and Crohn’s disease because a misdiagnosis can have dramatic consequences.
A 13-year-old Caucasian, Italian female adolescent attended the Emergency Department complaining of abdominal pain, a fever of up to 38°C, night sweats, diarrhea with blood in stool, and a weight loss of about three kilograms over the previous two months. Physical examination revealed a marked skin pallor and considerable abdominal distension with relevant discomfort in all the abdominal quadrant. Laboratory tests revealed a decreased white blood cell count with anemia and increased C-reactive protein levels. The Mantoux tuberculin skin test was negative. A chest X-ray and an abdominal ultrasonography did not reveal any significant findings. The patient underwent colonoscopy that showed diffuse mucosal congestion and significant blood loss, and laparatomy showed small bowel and colon loops with a whitish appearance. A biopsy of the ileal mucosa revealed inflammation with noncaseating granulomas possibly due to bacterial infection. Given the suspicion of an opportunistic bacterial infection in a child with chronic inflammatory bowel disease (possibly Crohn’s disease), treatment with a third-generation cephalosporin was started. However, the abdominal pain, fever and poor general condition persisted and so, after 11 days, the patient underwent total body computed tomography and magnetic resonance imaging of the brain. On the basis of the radiological findings, miliary tuberculosis was suspected and bronchoscopy was performed and resulted positive for Mycobacterium tuberculosis. Miliary tuberculosis was confirmed and an effective treatment with four drugs was started.
This case shows that the manifestations of intestinal tuberculosis can be very difficult to diagnose and mimic those of Chron’s disease. Total body computed tomography and laparotomy with an intestinal biopsy for the detection of Mycobacterium tuberculosis are the means of avoid the risks of a misdiagnosis in children with unexplained chronic abdominal problems.
Emerging infections; Gastrointestinal infections; Intestinal tuberculosis; Mycobacterium tuberculosis; Tuberculosis
Wheezing during early life is a very common disorder, but the reasons underlying the different wheezing phenotypes are still unclear. The aims of this study were to analyse the potential correlations between the risk of developing recurrent wheezing and the presence of specific polymorphisms of some genes regulating immune system function, and to study the relative importance of the associations of different viruses and genetic polymorphisms in causing recurrent episodes.
The study involved 119 otherwise healthy infants admitted to hospital for a first episode of wheezing (74 of whom subsequently experienced recurrent episodes) and 119 age- and sex-matched subjects without any history of respiratory problem randomly selected from those attending our outpatient clinic during the study period. All of the study subjects were followed up for two years, and 47 single nucleotide polymorphisms (SNPs) in 33 candidate genes were genotyped on whole blood using an ABI PRISM 7900 HT Fast Real-time instrument.
IL8-rs4073AT, VEGFA-rs833058CT, MBL2-rs1800450CT and IKBKB-rs3747811AT were associated with a significantly increased risk of developing wheezing (p = 0.02, p = 0.03, p = 0.05 and p = 0.0018), whereas CTLA4-rs3087243AG and NFKBIB-rs3136641TT were associated with a significantly reduced risk (p = 0.05 and p = 0.04). IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increased risk of developing recurrent wheezing (p = 0.04, p = 0.04 and p = 0.03), whereas TLR3-rs3775291TC was associated with a significantly reduced risk (p = 0.03). Interestingly, the study of gene-environment interactions showed that rhinovirus was significantly associated with recurrent wheezing in the presence of IL4Ra-rs1801275GG and G (odds ratio [OR] 6.03, 95% confidence interval [CI]: 1.21-30.10, p = 0.03) and MAP3K1-rs702689AA (OR 4.09, 95% CI: 1.14-14.61, p = 0.03).
This study shows a clear relationship between the risk of wheezing and polymorphisms of some genes involved in the immune response. Although further studies are needed to confirm the results, these findings may be useful for the early identification of children at the highest risk of developing recurrent episodes and possibly subsequent asthma.
Asthma; Genetic polymorphisms; Lower respiratory tract infection; Recurrent wheezing; Respiratory viruses; Wheezing
A number of studies of adults have shown that pituitary deficiencies can develop in a considerable proportion of subjects during the acute phase of meningitis or years after the infection has disappeared. The results of the very few studies of the impact of pediatric meningitis on hypothalamic-pituitary function are conflicting.
In order to determine the incidence of pituitary dysfunction in children with central nervous system infection, we evaluated pituitary function and anthropometric parameters in 19 children with meningitis of different etiologies (15 males; mean age ± standard deviation [SD] at pituitary evaluation, 5.9 ± 4.0 years; mean time from the acute event ± SD, 18 ± 10 months).
All of the subjects had a normal stature and growth velocity for their age and gender, and none of them was obese. On the basis of Tanner’s reference charts, 17 subjects (13 boys and all four girls) were pre-pubertal; two boys were in Tanner stage 2. None of the subjects had central hypothyroidism. All of the patients had normal serum of insulin growth factor (IGF)-I and prolactin. Their sex steroid and gonadotropin levels were concordant with their age and pubertal status. Early morning urine osmolality and serum electrolyte levels showed no signs of diabetes insipidus. All of the patients had normal plasma adrenocorticotropic hormone (ACTH) levels. Peak cortisol responses to the standard dose Synacthen test (SDST) were normal in all cases.
The results showed that hypopituitarism following infectious meningitis appears to be infrequent in childhood and children’s pituitary glands seem to be less vulnerable to damage than those of adults.
Hypopituitarism; Meningitis; GH deficiency; Hypodrenalism; Pediatric infectious diseases
Air pollution has many negative health effects on the general population, especially children, subjects with underlying chronic disease and the elderly. The aims of this study were to evaluate the effects of traffic-related pollution on the exacerbation of asthma and development of respiratory infections in Italian children suffering from asthma or wheezing compared with healthy subjects and to estimate the association between incremental increases in principal pollutants and the incidence of respiratory symptoms.
This prospective study enrolled 777 children aged 2 to 18 years (375 with recurrent wheezing or asthma and 402 healthy subjects). Over 12 months, parents filled out a daily clinical diary to report information about respiratory symptoms, type of medication used and healthcare utilization. Clinical data were combined with the results obtained using an air pollution monitoring system of the five most common pollutants.
Among the 329 children with recurrent wheezing or asthma and 364 healthy subjects who completed follow-up, children with recurrent wheezing or asthma reported significantly more days of fever (p = 0.005) and cough (p < 0.001), episodes of rhinitis (p = 0.04) and tracheitis (p = 0.01), asthma attacks (p < 0.001), episodes of pneumonia (p < 0.001) and hospitalizations (p = 0.02). In the wheezing/asthma cohort, living close to the street with a high traffic density was a risk factor for asthma exacerbations (odds ratio [OR] = 1.79; 95% confidence interval [CI], 1.13-2.84), whereas living near green areas was found to be protective (OR = 0.50; 95% CI, 0.31 -0.80). An increase of 10 μg/m3 of particulates less than 10 microns in diameter (PM10) and nitrogen dioxide (NO2) increased the onset of pneumonia only in wheezing/asthmatic children (continuous rate ratio [RR] = 1.08, 95% CI: 1.00-1.17 for PM10; continuous RR = 1.08, 95% CI: 1.01-1.17 for NO2).
There is a significant association between traffic-related pollution and the development of asthma exacerbations and respiratory infections in children born to atopic parents and in those suffering from recurrent wheezing or asthma. These findings suggest that environmental control may be crucial for respiratory health in children with underlying respiratory disease.
Air pollution; Asthma; NO2; PM10; Respiratory disease; Traffic-related pollutant; Wheezing
Identifying single nucleotide polymorphisms (SNPs) in the genes involved in sepsis may help to clarify the pathophysiology of neonatal sepsis. The aim of this study was to evaluate the relationships between sepsis in pre-term neonates and genes potentially involved in the response to invasion by infectious agents. The study involved 101 pre-term neonates born between June 2008 and May 2012 with a diagnosis of microbiologically confirmed sepsis, 98 pre-term neonates with clinical sepsis and 100 randomly selected, otherwise healthy pre-term neonates born during the study period. During the study, 47 SNPs in 18 candidate genes were genotyped on Guthrie cards using an ABI PRISM 7900 HT Fast real-time and MAssARRAY for nucleic acids instruments. Genotypes CT and TT of rs1143643 (the IL1β gene) and genotype GG of rs2664349GG (the MMP-16 gene) were associated with a significantly increased overall risk of developing sepsis (p = 0.03, p = 0.05 and p = 0.03), whereas genotypes AG of rs4358188 (the BPI gene) and CT of rs1799946 (the DEFβ1 gene) were associated with a significantly reduced risk of developing sepsis (p = 0.05 for both). Among the patients with bacteriologically confirmed sepsis, only genotype GG of rs2664349 (the MMP-16 gene) showed a significant association with an increased risk (p = 0.02). Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were associated with a significantly increased risk of developing severe sepsis (p = 0.05 and p = 0.01). Genotype AG of rs1800629 (the LTA gene) and genotypes CC and CT of rs1341023 (the BPI gene) were associated with a significantly increased risk of developing Gram-negative sepsis (p = 0.04, p = 0.04 and p = 0.03). These results show that genetic variability seems to play a role in sepsis in pre-term neonates by influencing susceptibility to and the severity of the disease, as well as the risk of having disease due to specific pathogens.
In the Highly Active Antiretroviral Therapy (HAART) era, the prognosis of children perinatally infected with HIV-1 has significantly improved, so the number of perinatally-infected females entering child-bearing age and experiencing motherhood is increasing.
A description of the medical history and pregnancy outcomes of women with perinatal acquired HIV-1 infection enrolled in the Italian Register for HIV infection in Children.
Twenty-three women had 29 pregnancies. They had started an antiretroviral therapy at a median of 7.7 years (interquartile range, IQR 2.3 - 11.4), and had experienced a median of 4 therapeutic regimens (IQR 2–6). Twenty women (87%) had taken zidovudine (AZT) before pregnancy, in 14 cases as a starting monotherapy. In 21 pregnancies a protease inhibitor-based regimen was used. At delivery, the median of CD4+ T lymphocytes was 450/μL (IQR 275–522), and no viral load was detectable in 15 cases (reported in 21 pregnancies). Twenty-eight children were delivered through caesarean section (median gestational age: 38 weeks, IQR 36–38, median birth weight: 2550 grams, IQR 2270 – 3000). Intravenous AZT was administered during delivery in 26 cases. All children received oral AZT (median: 42 days, IQR 31 – 42), with no adverse events reported. No child acquired HIV-1 infection.
Despite a long history of maternal infection, multiple antiretroviral regimens and, perhaps, the development of drug-resistant viruses, the risk of mother-to-child transmission does not seem to have increased among the second-generation of HIV-1 exposed infants.
HIV-1; Drug-resistant virus; AZT; Vertical transmission
It has been shown that nasal saline irrigation (NSI) alone can be effective in children with infectious and/or allergic respiratory problems, but no study has assessed the awareness or clinical use of NSI among practising pediatricians. The main aim of this study was to evaluate the use of NSI in pre-school children by primary care pediatricians working in northern Italy.
Nine hundred randomly selected National Health Service primary care pediatricians with an e-mail address were sent an e-mail asking whether they were willing to respond to a questionnaire regarding the use of NSI. The 870 who answered positively were sent an anonymous questionnaire by post and e-mail that had 17 multiple-choice items.
Completed questionnaires were received from 860 of the 870 primary care pediatricians (98.8%). NSI was used by almost all the respondents (99.3%), although with significant differences in frequency. It was considered both a prophylactic and a therapeutic measure by most of the respondents (60.3%), who prescribed it every day for healthy children and more frequently when they were ill. Most of the primary care pediatricians (87%) indicated an isotonic solution as the preferred solution, and the most frequently recommended administration devices were a nasal spray (67.7%) and bulb syringe (20.6%). Most of the pediatricians (75.6%) convinced parents to use NSI by explaining it could have various beneficial effects, and two-thirds (527/854; 61.7%) thought that most of the parents agreed about the importance of NSI. Analysis of possible associations between NSI prescribing behaviour and the demographic data revealed an associations with age and gender, with pediatricians aged <50 years prescribing NSI more frequently than their older counterparts (p < 0.01), and females prescribing NSI more frequently than males (p < 0.01).
In Northern Italy, most primary care pediatricians prescribe NSI for both the prophylaxis and therapy of upper respiratory tract problems in pre-school children. However, many aspects of the procedure are not clarified, and this reduces parental compliance. Given the medical and economic advantages of NSI, this situation should be changed as soon as possible.
Isotonic saline solution; Hypertonic saline solution; Nasal saline irrigation; Nasal spray; Respiratory tract infection
The most important reasons cited by the opponents of vaccines are concerns about vaccine safety. Unlike issues such as autism for which no indisputable documentation of direct relationship with vaccine use is available, immune thrombocytopenic purpura (ITP) is an adverse event that can really follow vaccine administration, and may limit vaccine use because little is known about which vaccines it may follow, its real incidence and severity, the risk of chronic disease, or the possibility of recurrences after new doses of the same vaccine. The main aim of this review is to clarify the real importance of thrombocytopenia as an adverse event and discuss how it may interfere with recommended vaccination schedules. The available data clearly indicate that ITP is very rare and the only vaccine for which there is a demonstrated cause-effect relationship is the measles, mumps and rubella (MMR) vaccine that can occur in 1 to 3 children every 100,000 vaccine doses. However, also in this case, the incidence of ITP is significantly lower than that observed during the natural diseases that the vaccine prevents. Consequently, ITP cannot be considered a problem limiting vaccine use except in the case of children suffering from chronic ITP who have to receive MMR vaccine. In these subjects, the risk-benefit ratio of the vaccine should be weighed against the risk of measles in the community.
adverse events; immune thrombocytopenic purpura; MMR; platelets; vaccine safety; vaccine
As vitamin D (VD) has a significant regulatory effect on innate and adaptive immunity, the aim of this prospective, randomized, single-blinded, placebo-controlled study was to measure the impact of VD administration on the immune response to trivalent influenza vaccination (TIV). A total of 116 children (61 males, 52.6%; mean age 3.0 ± 1.0 y) with a history of recurrent acute otitis media (AOM), who had not been previously vaccinated against influenza, were randomized to receive daily VD 1,000 IU or placebo by mouth for four months. All of them received two doses of TIV (Fluarix, GlaxoSmithKline Biologicals) one month apart, with the first dose administered when VD supplementation was started. There was no difference in seroconversion or seroprotection rates, or antibody titers, in relation to any of the three influenza vaccine antigens between the VD and placebo groups, independently of baseline and post-treatment VD levels. The safety profile was also similar in the two groups. These data indicate that the daily administration of VD 1,000 IU for four months from the time of the injection of the first dose of TIV does not significantly modify the antibody response evoked by influenza vaccine.
acute otitis media, children; influenza, influenza vaccination, trivalent influenza vaccine, vitamin D, vitamin D supplementation
acute otitis media; influenza; influenza vaccine; vitamin D; vitamin D supplementation
There are few prospective evaluations of point-of-care ultrasonography (US) for the diagnosis of pediatric community-acquired pneumonia (CAP). In particular, there are very few data concerning the efficiency of US in comparison with that of chest radiography (CR) in defining different kinds of lung alterations in the various pulmonary sections. The aim of this study was to bridge this gap in order to increase our knowledge of the performance of US in diagnosing CAP in childhood.
A total of 103 children (56 males, 54.4%; mean age ± standard deviation 5.6 ± 4.6 years) admitted to hospital with a clinical diagnosis of suspected CAP were prospectively enrolled and underwent CR (evaluated by an independent expert radiologist) and lung US (performed by a resident in paediatrics with limited experience in US). The performance of US in diagnosing CAP (i.e. its sensitivity, specificity, and positive and negative predictive values) was compared with that of CR.
A total of 48 patients had radiographically confirmed CAP. The sensitivity, specificity, and positive and negative predictive values of US in comparison with CR were respectively 97.9%, 94.5%, 94.0% and 98.1%. US identified a significantly higher number of cases of pleural effusion, but the concordance of the two methods in identifying the type of CAP was poor.
US can be considered a useful means of diagnosing CAP in children admitted to an Emergency Department with a lower respiratory tract infection, although its usefulness in identifying the type of lung involvement requires further evaluation.
Chest radiography; Community-acquired pneumonia; Lower respiratory tract infection; Lung ultrasonography; Pneumonia; Radiology
The microbiota of the gastrointestinal tract have profound influence at multiple levels, even on the development and maintenance of lung immunity and inflammation. Aim of this review is to evaluate the current knowledge about the specific impact on children’s respiratory tract infections from probiotics, live microbes with the power to modify intestinal microbial populations and exert subsequent benefits for the host.
The role of probiotics in gastrointestinal and allergic diseases has been largely assessed, but the number of studies performed so far in the field of respiratory tract infections is small, though some data show that probiotic administration might display clinical advantages. Probiotic strain identity and host genetic differences may account for differential modulation of immune responses by probiotics. Current laboratory and clinical data regarding the possibility of the role of probiotics on preventing the development of respiratory tract infections are contradictory, and are somewhat insufficient to recommend strongly their routine use. Further study of gastrointestinal-respiratory interactions is likely to yield important insights into the pathogenesis of different pulmonary diseases, and improve our knowledge in the prophylactic role of probiotics in children affected by recurrent upper respiratory tract infections.
A better understanding of the effects of different probiotic strains and a deeper insight into their mechanisms of action are needed for the validation of specific strains carrying a potential to modify the frequency and severity of RTIs in infants and children. No data have been collected in pediatric patients with chronic underlying diseases, and yet there are no published data concerning treatment of RTIs with probiotics. The very few studies published so far do not indicate which micro-organism or administration regimen might exert beneficial effects as a prevention tool of RTIs both in healthy children and in those with recurrent RTIs. Further research to establish the role of probiotics in the treatment and prevention of RTIs, including those involving the lower respiratory tract, are required and should also clarify if any susceptible subgroups of respiratory diseases exist, and how these subgroups benefit from supplementation with certain probiotic strains.
Acute otitis media; Children; Prevention; Probiotics; Respiratory tract infection; Upper respiratory tract infections
Although individual occurrence is rare, syndromic obesity with mental retardation has been reported in conjunction with 140 different diseases.
The patient was born at term after a pregnancy complicated by threatened miscarriage. A diagnosis of Bardet-Biedl syndrome (BBS; OMIM #209900) was made in another hospital when she was 8 years old, but other clinical problems emerged subsequently. She came to our attention for the first time when she was 14 years old. The clinical picture, characterized by the presence of ophtalmological, renal, endocrinological, and liver disorders associated with a peculiar weight growth pattern, was more suggestive for Alström syndrome (ALMS; OMIM #203800); consequently, a genetic study was performed. Genetic analysis revealed a novel compound heterozygous frameshift mutation on exon 8 of ALMS1 (c. [3251_3258delCTGACCAG] and c. [6731delA]), which has not previously been described.
Early onset of retinal degeneration associated with obesity represents a diagnostic challenge in paediatric and genetic practice, although the absence of skeletal abnormalities and developmental delay could help in addressing the clinical diagnosis. Confirmation of clinical suspicion by genetic analysis has been diriment in this case, since only a single gene is known to cause ALMS.
Alström syndrome; Bardet-Biedl syndrome; Cone-rod dystrophy; Obesity; Syndromic obesity
Orbital cellulitis is an infrequent complication of acute ethmoiditis possibly leading to life- or visual-threatening complications. Despite its natural history is well known, its clinical evolution may widely vary among patients, and even in the most favourable cases long-term sequelae may persist. We here provide a step-by-step iconographic description of a periorbital and orbital cellulitis occurring in a child with ipsilateral acute rhinosinusitis. Our report shows that an unusual long-term evolution of periorbital and orbital cellulitis is possible also in apparently favourable cases.
Rhinosinusitis; Orbital cellulitis; Children
Air pollution has many effects on the health of both adults and children, but children’s vulnerability is unique. The aim of this review is to discuss the possible molecular mechanisms linking air pollution and asthma in children, also taking into account their genetic and epigenetic characteristics.
Air pollutants appear able to induce airway inflammation and increase asthma morbidity in children. A better definition of mechanisms related to pollution-induced airway inflammation in asthmatic children is needed in order to find new clinical and therapeutic strategies for preventing the exacerbation of asthma. Moreover, reducing pollution-induced oxidative stress and consequent lung injury could decrease children’s susceptibility to air pollution. This would be extremely useful not only for the asthmatic children who seem to have a genetic susceptibility to oxidative stress, but also for the healthy population. In addition, epigenetics seems to have a role in the lung damage induced by air pollution. Finally, a number of epidemiological studies have demonstrated that exposure to common air pollutants plays a role in the susceptibility to, and severity of respiratory infections.
Air pollution has many negative effects on pediatric health and it is recognised as a serious health hazard. There seems to be an association of air pollution with an increased risk of asthma exacerbations and acute respiratory infections. However, further studies are needed in order to clarify the specific mechanism of action of different air pollutants, identify genetic polymorphisms that modify airway responses to pollution, and investigate the effectiveness of new preventive and/or therapeutic approaches for subjects with low antioxidant enzyme levels. Moreover, as that epigenetic changes are inheritable during cell division and may be transmitted to subsequent generations, it is very important to clarify the role of epigenetics in the relationship between air pollution and lung disease in asthmatic and healthy children.
Air pollution; Asthma; Lung disease; Particulate matter; Pediatric pulmonology; Respiratory tract infection