Exacerbations and Pseudomonas aeruginosa colonization are associated with altered lung structure and function in primary ciliary dyskinesia.

BACKGROUND: Recurrent bacterial infections of the respiratory tract are one of the major clinical features of the primary ciliary dyskinesia (PCD), a rare genetic disease due to malfunctioning of motile cilia. Chronic infections and persistent inflammation of the respiratory system result in progressive lung disease. Aim of the study was to highlight the main factors associated with clinical, functional and anatomical deterioration in PCD patients. METHODS: We retrospectively analyzed data from 58 patients with PCD, 37 adults and 21 children. The demographic and clinical data, forced expiratory volume at 1 s (FEV1) and forced vital capacity (FVC), sputum microbiology and imaging results (chest CT scores-modified Bhalla) were recorded. Patients were stratified according to the number of exacerbations (< 2/year vs ≥ 2/year) and chronic Pseudomonas aeruginosa (PA) colonization. The possible correlations between lung function and chest CT scores were assessed; we also evaluated the correlation between these parameters and the severity scores for bronchiectasis (BSI, FACED and e-FACED). RESULTS: Chest CT scores showed a significant correlation with FEV1 (p = 0.0002), age (p <  0.0001), BMI (p = 0.0002) and number of lung lobes involved (p <  0.0001). PA colonization had an overall prevalence of 32.6%: no significant difference in FEV1 between PA colonized and non-colonized patients was found (p = 0.70), while chest CT score was significantly worse in chronic PA colonized patients (p = 0.009). Patients with a high number of exacerbation (≥ 2/year) were older (p = 0.01), had lower FEV1 (p = 0.03), greater number of lobes involved (p < 0.001) and worse CT score than patients with low number of exacerbations (p = 0.001); they also had higher prevalence of PA chronic bronchial infection (33.3% versus 13.6%, p = 0.10). Multivariable linear regression analyses adjusted for gender, age and BMI showed positive associations between PA colonization and number of exacerbations with severity of disease (number of lobes involved, CT score, BSI, FACED, and e-FACED). CONCLUSIONS: In our PCD population the number of exacerbations (≥ 2/year) and PA colonization were the two most relevant factors associated with severity of disease.

Response to: Bias in the use of a SSClow/CCR3pos gate to capture basophils in chronic urticaria?

A response to Chirumbolo S, Bjørklund G, and Vella A, Bias in the use of a SSClow/CCR3pos gate to capture basophils in chronic urticaria? Immunobiology, 224(3), 2019, 353-354.

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants. The phenotype was evaluated through a detailed clinical examination of the major and minor ectodermal-derived structures. This study is the first to show that, after ED1, WNT10A is the second molecular candidate for EDI in a large Italian Caucasian population. The study confirmed that Phe228Ile is the most frequent WNT10A variant in Caucasian populations, and that WNT10A mutations are associated with large variability in EDI.

Nasal cytology in children: scraping or swabbing?

Nasal cytology has become a valuable tool in the assessment of a multitude of nasal pathologies in children. Collection methods differ significantly and even though the use of the nasal curette is regarded as the most reliable in adults, most practitioners use the nasal swab in children. However, no studies have validated the reliability and supposed better tolerability of the latter. We have compared these two sampling methods regarding their tolerability and analysed the diagnostic accuracy of the cotton nasal swab (NSW) to identify nasal cytotypes and rhinitis phenotypes, using nasal scraping (NSC) for comparison. In a multicentric prospective study we recruited 208 children and performed nasal cytology by means of NSW and NSC. Microscopic evaluating of the nasal cytotypes was performed and tolerability of NSW and NSC was tested. Our data revealed a significantly inferior diagnostic accuracy of NSW compared to NSC regarding reliability and cell counts. Our study is the first to shed light on the role of the sampling tools for pediatric nasal cytology. We documented a poor diagnostic accuracy of NSW, thus suggesting using only the nasal curette in clinical practice. Furthermore, tolerability did not differ between the two, refuting the common thesis that swabs are to be preferred when doing nasal cytology in children.

Isotonic saline in children with perennial allergic rhinitis.

Children with HDM allergy suffer from perennial allergic rhinitis (PAR). The present pilot study evaluated nasal lavage with isotonic saline (0.9%) in 25 children (mean age 8.9 years; 13 males) with HDM-dependent PAR, assessing: nasal symptoms severity and parental perception of rhinitis control, sleep, and school performance. Nasal symptoms, rated by total symptom score, parental perception of PER control, sleep quality, and school performance, measured by visual analogue scale, were significantly improved by nasal lavage (p < 0.001) after treatment. The effects tended to persist also during the follow-up. In conclusion, the present pilot study provides the first evidence that nasal lavage with isotonic saline relieved the nasal symptoms of children with PAR and improved the parental perception of the disease.

Hypertonic saline monotherapy in children with perennial allergic rhinitis: a pilot study.

Perennial allergic rhinitis (PAR) is very common in children and has a relevant impact on their families. House dust mites (HDM) are the most relevant cause of PAR. The present pilot study aimed to evaluate whether hypertonic saline (3%) nasal spray as monotherapy is able to improve: nasal symptom severity and parental perception of rhinitis control, sleep, and school performance in HDM-mono-sensitized children with PAR. Globally, 25 children (13 males and 12 females; mean age 9.5±3.1 years) were treated for 3 weeks. They were visited at baseline, at the end of treatment, and after a 2-week follow-up. Hypertonic saline significantly reduced total symptom score, and improved the perception, according to their parents, of rhinitis control, sleep, and school performance. In conclusion, the present pilot study provided the first evidence that 3% hypertonic saline monotherapy was able to relieve nasal symptoms and parental perception of PAR impact as well as being safe and well tolerated.

[Primary ciliary dyskinesia: clinical and genetic aspects]. / Discinesia ciliare primitiva: aspetti clinici e genetici.

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease, characterized by ciliary disfunction and impaired mucociliary clearance, resulting in a range of clinical manifestations such as chronic bronchitis, bronchiectasis, chronic rhino-sinusitis, chronic otitis media, situs viscerum inversus in almost 40-50% of cases and male infertility. The triad situs viscerum inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. Up to now little is known about genetic, diagnostic and therapeutic aspects of primary motile ciliary diseases in children: for this reason, diagnosis is generally delayed and almost all treatments for PCD are not based on randomized studies but extrapolated from cystic fibrosis guidelines. The aim of this review is to propose to pediatricians a summary of current clinical and diagnostic evidence to obtain better knoledwge of this condition. The earlier diagnosis and the right treatment are both crucial to improve the prognosis of PCD.

[Hemangiomas in infancy]. / Gli emangiomi dell'infanzia.

Hemangiomas are the most common tumors of childhood. Although most hemangiomas remain innocuous, a significant minority may be associated with important complications. The morphology and location of a hemangioma of infancy are critically important factors in determining potential risk for complications. Ongoing research on pathogenesis will provide new opportunities for interventional and preventive therapies.

Tolerance to a rice hydrolysate formula in children allergic to cow's milk and soy.

BACKGROUND: Even hydrolysed cow's milk formulae may retain residual allergens and there are few nutritional options for children with cow's milk allergy (CMA) who also react to soy. OBJECTIVE: To assess clinical tolerance to a rice-based hydrolysate in children with such a clinical presentation. PATIENTS AND METHODS: Eighteen children (six girls and 12 boys; median age 5 years; range 1-9 years) with CMA, who developed clinical reactions to a soy-based formula after 2-18 months' treatment, were recruited between January 1998 and June 1999. Clinical evaluation was by skin prick test (SPT) with cow's milk, casein, lactalbumin, soy and rice allergen extracts, fresh cow's milk, soy and hydrolysated rice formula (HRF). Serology was investigated by CAP system technology and immunoblotting. Assessment of the rice formula was carried out by double-blind, placebo-controlled food challenge with rice hydrolysate. RESULTS: Thirteen children had positive SPT to casein, 10 to lactalbumin, eight to rice and two to rice hydrolysate. Positive serology was found in all patients' sera tested with cow's milk, with soy in 13 sera and with rice in seven. Double-blinded, placebo-controlled challenge with an HRF was negative in all cases. CONCLUSIONS: Children allergic to cow's milk and soy tolerate an HRF clinically. This suggests that rice hydrolysate may be used as a protein source for children with multiple food-induced reactions.

Nutritional value of a rice-hydrolysate formula in infants with cows' milk protein allergy: a randomized pilot study.

This study was designed to assess whether a rice-hydrolysate formula allows normal growth and adequate metabolic balance in infants with cows' milk protein allergy. Infants (seven females, nine males; aged 6-14 months) were randomly assigned to receive a rice-hydrolysate formula (n = 8) or a soy formula (control group, n = 8). Standardized growth indices (Z scores) and biochemical parameters were evaluated during a 6-month treatment period. Infants in both groups showed normal growth patterns during the study, and no adverse reactions were seen. Mean plasma biochemical parameters were within the normal ranges, and did not differ between groups. In conclusion, rice-hydrolysate formula may be a nutritionally suitable alternative for infants with cows' milk protein allergy. Larger studies, with satisfactory power, should be undertaken to confirm these findings.

A 1-year trial of lamivudine for chronic hepatitis B in children.

We carried out a 1-year trial to evaluate the efficacy and tolerability of lamivudine, an oral nucleoside analogue, in a small group of children with vertically acquired chronic hepatitis B. Patients were assessed for serum alanine aminotransferase (ALT) and serum hepatitis B virus (HBV) DNA at baseline and every 4 weeks thereafter, and for hepatitis B s antigen, hepatitis B e antigen and their antibodies every 12 weeks. Analysis of HBV mutation was undertaken at entry and on the occasion of the last positive control of HBV DNA. Lamivudine suppressed serum HBV DNA to undetectable levels in all treated patients within 24 weeks. Serum ALT levels returned to normal values within 36 weeks. Therapy was well tolerated, and although nausea and vomiting were reported in one child, it was not necessary to stop treatment. A new observation was that, contrary to previous data, seroconversion appeared to occur earlier in children with lower ALT levels at baseline.

Growth in the first two years of uninfected children born to HIV-1 seropositive mothers.

OBJECTIVE: To assess the growth curves of uninfected infants born to type 1 human immunodeficiency virus (HIV-1) seropositive mothers by means of standardised anthropometric indices. METHODS: The z scores (National Center for Health Statistics-World Health Organization data) of weight for age, length for age, and weight for length of 92 uninfected full term infants born to HIV positive mothers were compared with those of 65 bottle fed full term infants born to healthy mothers at 0, 1, 2, 3, 4, 6, 9, 12, 18, and (in a subgroup) 24 months of age. Confounders were also recorded. RESULTS: The study population had a lower length for age z score at birth (95% confidence intervals (CI): 0.02, -0.58) and higher weight for length z scores at 1 (95% CI: 0.21, 0.63), 2 (95% CI: 0.25, 0.66), and 3 (95% CI: 0.0, 0.48) months compared with the reference group. After a temporary recovery, the length for age z score difference increased progressively from the 4th month onwards and was significant at 18 (95% CI: -0.31, -1.05) and 24 (95% CI: -0.02, -0.91) months. The difference between the length for age z scores at birth was associated with maternal covariates, but the between group difference at 18 months was apparent even after adjustment for covariates. CONCLUSION: Uninfected infants born to HIV positive mothers have a rapid weight gain immediately after birth. A decrease in length progression during the second year might be a result of the social risk connected with the family environment and an unfavourable programming related to the maternal HIV status.

Body mass index development during the first 6 months of life in infants born to human immunodeficiency virus-seropositive mothers.

The development of body mass index (BMI) was measured during the first 6 months of life in three groups of infants [human immunodeficiency virus (HIV) -uninfected, n = 92; later symptomatic HIV-infected, n = 18; early symptomatic HIV-infected, n = 9] born to HIV-positive mothers and compared with a reference group (n = 65) born to healthy mothers. A trend towards lower values in the two groups of HIV-infected infants was already evident at birth. Among the four groups, HIV-uninfected infants showed the highest BMI values while the early-infected infants showed the lowest BMI values at all measurements. The later-infected group had a value close to the reference at 1 month, and then increased at slower rates than the uninfected and the reference groups. Infants born to HIV-positive mothers may have higher energy and nutrient requirements after birth, either to sustain an increased BMI development (when uninfected) or to meet catabolic mechanisms (when infected).