Obstetric outcomes in pregnant COVID-19 women: the imbalance of von Willebrand factor and ADAMTS13 axis.

BACKGROUND: Thrombotic microangiopathy has been invoked as one of the most important mechanisms of damage in COVID-19 patients. Protease ADAMTS13 is a marker of microangiopathy responsible for controlling von Willebrand multimers size. Von Willebrand factor/ADAMTS13 ratio has been found impaired in COVID-19 patients outside pregnancy. METHODS: We prospectively investigated 90 pregnant women admitted to two tertiary academic hospitals in Italy with a laboratory-confirmed diagnosis of SARS-CoV-2 infection. Demographic, clinical information and routine laboratory data were collected at the hospital admission and until discharge. We investigated whether vonWillebrand /ADAMTS13 axis imbalance is a predictor of adverse outcomes. Logistic regression analysis, which controlled for potential confounders, was performed to evaluate the association between laboratory parameters and clinical outcomes. RESULTS: Most women (55.6%) were parae, with median gestational age at admission of 39 weeks. At hospital admission, 63.3% were asymptomatic for COVID-19 and 24.4% showed more than one sign or symptom of infection. Nulliparae with group O showed Willebrand / ADA MTS-13 ratios significantly lower than non-O, whereas in multiparae this difference was not observed. Logistic regression showed that ratio von Willebrand to ADAMTS13 was significantly and independently associated with preterm delivery (OR 1.9, 95%CI 1.1-3.5). CONCLUSION: This study shows an imbalance of vonWillebrand /ADAMTS13 axis in pregnant women with COVID-19, leading to a significantly higher and independent risk of preterm delivery. Monitoring these biomarkers might support decision making process to manage and follow-up pregnancies in this setting.

Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.

In the published article [1], an error has been noticed in the author group section.

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.

BACKGROUND: Neonatal severe primary hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder of calcium homeostasis, characterized by striking hyperparathyroidism, marked hypercalcemia and hyperparathyroid bone disease. We report the case of a newborn with a novel homozygous mutation of the CaSR, treated by successful subtotal parathyroidectomy, who had an acute presentation of the disease, i.e. out-of hospital cardiorespiratory arrest. . CASE PRESENTATION: A 8-day-old female newborn was admitted to the NICU of University of Bari "Aldo Moro" (Italy) after a cardiorespiratory arrest occurred at home. Severe hypercalcemia was found and different drug therapies were employed (Furosemide, Cinacalcet and bisphosphonate), as well as hyperhydration, until subtotal parathyroidectomy, was performed at day 32. Our patient's mutation was never described before so that a strict and individualized long-term follow-up was started. CONCLUSIONS: This case of NSHPT suggests that a near-miss event, labelled as a possible case of SIDS, could also be due to severe hypercalcemia and evidentiates the difficulties of the neonatal management of NSHPT. Furthermore, the identification of the specific CaSR mutation provides the substrate for prenatal diagnosis.

14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.

Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. By array-CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11-q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses NKX2-1, but not FOXG1 gene and HPE8 region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. © 2016 Wiley Periodicals, Inc.

New insights into childhood Vernal keratoconjunctivitis-associated factors.

The purpose of this study was to test for detectable serum levels of antibodies usually associated with immune-related diseases in children with Vernal keratoconjunctivitis (VKC) and seek for their family history of allergies and autoimmune disorders. The association of human leukocyte antigens (HLA) with VKC was also investigated. We enrolled 181 VKC children and assessed total and specific IgE, antithyroglobulin (AbTG), antithyroidperoxidase (AbTPO), antitransglutaminase (tTG), and antinuclear antibodies (ANA) by standard procedures. Class I and II HLA typing was also carried out following standard protocols, and it was compared with that of healthy subjects. Patients were positive for AbTG (22%), AbTPO (14.6%), and ANA (15.8%), and AbTG positivity was associated with VKC severity (mean ocular score ± SD positive vs. negative: 6.56 ± 2.1 vs. 4.82 ± 2.1; p = 0.03). We found that 12.2% of VKC cases had a positive family history for psoriasis, 6.4% for other cases of VKC, and 5.2% for thyroiditis, while 50.2% of them were atopic. The expression of HLA class I B37 was significantly higher in VKC patients than in controls (7.1% vs. 2.1%, p = 0.04), although not confirmed after multiple antigens testing analysis. Our study suggests a role of common components associated with immune-based diseases in the clinical expression of VKC.

Macronutrients and Micronutrients in Parenteral Nutrition for Preterm Newborns: A Narrative Review.

Preterm neonates display a high risk of postnatal malnutrition, especially at very low gestational ages, because nutritional stores are less in younger preterm infants. For this reason nutrition and growth in early life play a pivotal role in the establishment of the long-term health of premature infants. Nutritional care for preterm neonates remains a challenge in clinical practice. According to the recent and latest recommendations from ESPGHAN, at birth, water intake of 70-80 mL/kg/day is suggested, progressively increasing to 150 mL/kg/day by the end of the first week of life, along with a calorie intake of 120 kcal/kg/day and a minimum protein intake of 2.5-3 g/kg/day. Regarding glucose intake, an infusion rate of 3-5 mg/kg/min is recommended, but VLBW and ELBW preterm neonates may require up to 12 mg/kg/min. In preterm infants, lipid emulsions can be started immediately after birth at a dosage of 0.5-1 g/kg/day. However, some authors have recently shown that it is not always possible to achieve optimal and recommended nutrition, due to the complexity of the daily management of premature infants, especially if extremely preterm. It would be desirable if multicenter randomized controlled trials were designed to explore the effect of early nutrition and growth on long-term health.

Probiotics and Functional Gastrointestinal Disorders in Pediatric Age: A Narrative Review.

Assessment and management of pain are essential components of pediatric care. Pain in pediatric age is characterized by relevant health and socio-economic consequences due to parental concern, medicalization, and long-term physical and psychological impact in children. Pathophysiological mechanisms of nociception include several pathways in which also individual perception and gut-brain axis seem to be involved. In this narrative review, we analyze the rational and the current clinical findings of probiotic use in the management of functional gastrointestinal disorders (FGID) in pediatric age, with special focus on infantile colic, irritable bowel syndrome, constipation, and gastroesophageal reflux. Some specific probiotics showed a significant reduction in crying and fussing compared to placebo in breastfed infants with colic, although their exact mechanism of action in this disorder remains poorly understood. In irritable bowel syndrome, a limited number of studies showed that specific strains of probiotics can improve abdominal pain/discomfort and bloating/gassiness, although data are still scarce. As for constipation, whilst some strains appear to reduce the number of hard stools in constipated children, the evidence is not adequate to support the use of probiotics in the management of functional constipation. Similarly, although some probiotic strains could promote gastric emptying with a potential improvement of functional symptoms related to gastroesophageal reflux, current evidence is insufficient to provide any specific recommendation for the prevention or treatment of gastroesophageal reflux. In conclusion, probiotics have been proposed as part of management of pain in functional gastrointestinal disorders in pediatric age, but mechanisms are still poorly understood and evidence to guide clinical practice is currently inadequate.

COVID-19 Infection in Pregnancy: Obstetrical Risk Factors and Neonatal Outcomes-A Monocentric, Single-Cohort Study.

The effects of coronavirus disease 2019 caused by severe acute respiratory syndrome coronavirus 2 on pregnant women and neonates are mainly unknown, since limited data are available in the literature. We conducted a monocentric and cross-sectional study enrolling 122 un-vaccinated pregnant women with COVID-19 infection tested by RT-PCR nasopharyngeal swab. Only 4.1% of the patients had severe COVID-19 symptoms together with major respiratory symptoms and intensive care unit admission, whereas 35.25% of women had comorbidities and two-thirds of them were overweight or obese. COVID-19 was detected mainly in the third trimester (98.36%) and multiparous women (59.02%). The mode of delivery was influenced by mild-severe COVID-19 symptoms, with a higher number of urgent or emergent cesarean sections than spontaneous or operative vaginal births. Preterm births were associated with high BMI, mode of delivery (higher among cesarean sections), nulliparity, and severe COVID-19 symptoms. In cases of severe COVID-19 symptoms, there was a higher rate of respiratory distress syndrome among newborns. In the end, only the presence of a severe COVID-19 infection worsened the obstetrical and neonatal outcomes, with higher rates of urgent or emergent cesarean section, preterm births, and neonatal respiratory distress syndrome.

Universal Newborn Screening for Congenital Cytomegalovirus Infection - From Infant to Maternal Infection: A Prospective Multicenter Study.

Introduction: Most infants at risk for cytomegalovirus (CMV)-associated sensorineural hearing loss (SNHL) are unrecognized because of the absence of a universal neonatal CMV screening. The search of CMV-DNA by molecular methods in salivary swabs was demonstrated to be a reliable approach. This study describes the results obtained by carrying out a universal screening for congenital CMV (cCMV) infection including all live-born newborns in three Italian sites, as well as the therapeutic interventions and clinical outcome of the CMV-infected neonates. Moreover, CMV maternal infection's characteristics were evaluated. Methods: To confirm or exclude cCMV infection, a CMV-DNA-positive result on a first salivary swab was followed by repeated saliva and urine samples collected within 21 days of age. Breast milk samples were also collected. The search of CMV-DNA was performed with a single automated quantitative commercial real-time PCR assay, regardless of the type of samples used. Results: A total of 3,151 newborns were enrolled; 21 (0.66%) of them were congenitally infected (median saliva viral load at screening, 6.65 [range, 5.03-7.17] log10 IU/ml). Very low/low viral load in screening saliva samples (median value, 1.87 [range, 1.14-2.59] log10 IU/ml) was associated with false-positive results (n = 54; 1.7%). CMV-DNA was detected in almost half of the breast milk samples of mother-infant pairs with a false-positive result, suggesting that contamination from breast milk may not be the only explanation in the study population. cCMV infection confirmation with the search of CMV-DNA in a urine sample proved to be the gold standard strategy, since false-positive results were observed in 4/54 (7.5%) of the repeated saliva samples. Symptomatic cCMV infection was observed in 3/21 (14.3%) infants; notably, one (4.7%) developed moderate unilateral SNHL at 5 months after birth. Finally, two symptomatic cCMV infections were associated with primary maternal infection acquired in the first trimester of gestation; one newborn with severe cCMV symptoms was born to a mother with no CMV checkups in pregnancy. Conclusion: Without universal neonatal CMV screening, some infected infants who develop late neurological sequelae may not be recognized and, consequently, they are not able to benefit early from instrumental and therapeutic interventions to limit and/or treat CMV disease.

Lecithinized superoxide dismutase in the past and in the present: Any role in the actual pandemia of COVID-19?

The Coronavirus disease 19 (Covid-19) pandemic is devastating the public health: it is urgent to find a viable therapy to reduce the multiorgan damage of the disease. A validated therapeutic protocol is still missing. The most severe forms of the disease are related to an exaggerated inflammatory response. The pivotal role of reactive oxygen species (ROS) in the amplification of inflammation makes the antioxidants a potential therapy, but clinical trials are needed. The lecitinized superoxide dismutase (PC-SOD) could represent a possibility because of bioaviability, safety, and its modulatory effect on the innate immune response in reducing the harmful consequences of oxidative stress. In this review we summarize the evidence on lecitinized superoxide dismutase in animal and human studies, to highlight the rationale for using the PC-SOD to treat COVID-19.

Infantile Functional Gastrointestinal Disorders and Maternal Psychological Status: A Narrative Review.

BACKGROUND: Functional gastrointestinal disorders are often extremely distressing for the infant and parents, leading to infant discomfort and crying, parental anxiety, repeated healthcare consultations, and escalating healthcare costs. AIM: In this narrative review, we analyzed the relationship between maternal psychological status during pregnancy and postpartum and the main infantile functional gastrointestinal disorders. MATERIALS AND METHODS: The narrative review was conducted searching scientific databases for articles reporting on infantile functional gastrointestinal disorders in association with maternal depressive or anxiety disorders. RESULTS: Seven studies were suitable. DISCUSSION: Maternal psychological disorders may be correlated to infantile functional gastrointestinal disorders. Whether it is the excessive crying that favors the onset of maternal psychological disorders or, in contrast, an altered attachment style due to the maternal status that facilitates the onset of functional gastrointestinal disorders in the infant is still an open question. Recent findings revealed that both anxious and depressed mothers are more likely to have an adverse gut microbiome. CONCLUSION: A healthy interaction of the mother-baby dyad is advantageous in ensuring the mental and physical development of the offspring. Gynecologists, general practitioners and pediatricians should be alert for early identification of mothers at risk with the aim to initiate timely targeted interventions. Further research on the role of microbiota and the possible therapeutic approaches with probiotics is required.

In-hospital and web-based intervention to counteract vaccine hesitancy in very preterm infants' families: a NICU experience.

BACKGROUND: Vaccine hesitancy is a global problem, carrying significant health risks for extremely vulnerable population as that of preterm infants. Social media are emerging as significant tools for public health promotion. Our aim was to evaluate both the coverage and the timeliness of routine immunizations in a cohort of preterm infants (< 33 weeks of gestational age) at 24 months of age whose families have been subjected to in-hospital and web-based interventions to counteract vaccine hesitancy. METHODS: For a period of 2 years parents of preterm infants were instructed during their follow up visits by a member of the NICU team to get correct informations about vaccines from a social network page. Vaccination rates of preterm infants were assessed at 24 months of chronological age with an electronic database and compared to both general population and historical cohort. RESULTS: Coverage and timeliness of vaccinations at 24 months of age of 170 preterm infants were analyzed in December 2019. Gestational age and birth weight median (IQR) were, respectively, 31.0 (5.0) weeks and 1475.0 (843.8) g. Coverage rates were similar to those of the regional population (p > 0.05), while timeliness of administration was significantly delayed compared to the recommended schedule (p < 0.001). Age of administration was not correlated with either body weight and gestational age at birth (Spearman rank, p > 0.05). DTaP-IPV-HBV-Hib 2nd and 3rd doses, MMR and Varicella vaccines coverage data were higher compared to historical cohort (p < 0.05). CONCLUSION: Increasing vaccine confidence through web-based interventions could have a positive impact on vaccination acceptance of parents of preterm infants, although timeliness results still delayed. There is a strong need to develop different and effective vaccination strategies to protect this very vulnerable population.

Perinatal Transmission and Outcome of Neonates Born to SARS-CoV-2-Positive Mothers: The Experience of 2 Highly Endemic Italian Regions.

INTRODUCTION: COVID-19 is the disease caused by the novel coronavirus SARS-CoV-2, responsible of the pandemic declared in March 2020 and still ongoing. COVID-19 affects all ages but presents less complications and fatalities in children. Neonatal infections have rarely been reported worldwide, and vertical transmission is uncertain. METHODS: We conducted a prospective cohort study of all infants born to SARS-CoV-2-positive mothers admitted to 2 hospitals in South (Bari) and North (Varese) of Italy from April to December 2020. A molecular nasopharyngeal swab for SARS-CoV-2 using a reverse transcriptase polymerase chain reaction was made at birth for all enrolled newborns to evaluate vertical transmission of infection. We also evaluated postnatal transmission with a second nasopharyngeal swab made at 1 month of life and described maternal and neonatal clinical findings and short-term outcomes. RESULTS: 176/179 (97%) newborns were SARS-CoV-2 negative at birth and 151/156 (97%) infants were still negative at 1 month of life. All newborns were asymptomatic. Seventy percent of newborns were breastfed during hospitalization. At 1 month of life, 76% of infants were breastfed. CONCLUSION: According to our results, vertical and perinatal infection is very rare. Breastfeeding does not increase the risk of COVID-19 and should be encouraged.

Pregnancy Complications, Correlation With Placental Pathology and Neonatal Outcomes.

Purpose: We aimed to clarify and contribute to a better comprehension of associations and correlations between placental histological findings, pregnancy evolution, and neonatal outcomes. Study Design: This is a longitudinal and prospective observational study, performed between May 2015 and May 2019, on 506 pregnant women. Clinical data related to pregnancy outcome, neonatal health status, and placental histology were primarily collected. Twin pregnancies or malformed newborns were excluded and therefore the study was conducted on 439 cases. These cases have been then subdivided into the following study groups: (a) 282 placentas from pathological pregnancies; and, (b) a control group of 157 pregnancies over 33 weeks of gestational age, defined as physiological or normal pregnancies due to the absence of maternal, fetal, and early neonatal pathologies, most of which had undergone elective cesarean section for maternal or fetal indication. Results: A normal placenta was present in 57.5% of normal pregnancies and in 42.5% of pathological pregnancies. In contrast, placental pathology was present in 26.2% of normal pregnancies and 73.8% of pathological pregnancies. Comparison of the neonatal health status with the pregnancy outcome showed that, among the 191 newborns classified as normal, 98 (51.3%) were born from a normal pregnancy, while 93 (48.7%) were born from mothers with a pathological pregnancy. Among the 248 pathological infants, 59 (23.8%) were born from a mother with a normal pregnancy, while 189 (76.2%) were born from pregnancies defined as pathological. Conclusion: Placental histology must be better understood in the context of natural history of disease. Retrospective awareness of placental damage is useful in prevention in successive pregnancy, but their early identification in the evolving pregnancy could help in association with biological markers or more sophisticated instruments for early diagnosis.

Vegetarian and Vegan Weaning of the Infant: How Common and How Evidence-Based? A Population-Based Survey and Narrative Review.

BACKGROUND: Vegetarian and vegan weaning have increasing popularity among parents and families. However, if not correctly managed, they may lead to wrong feeding regimens, causing severe nutritional deficiencies requiring specific nutritional support or even the need for hospitalization. AIM: To assess the prevalence of vegetarian and vegan weaning among Italian families and to provide an up-to-date narrative review of supporting evidence. MATERIALS AND METHODS: We investigated 360 Italian families using a 40-item questionnaire. The narrative review was conducted searching scientific databases for articles reporting on vegetarian and vegan weaning. RESULTS: 8.6% of mothers follow an alternative feeding regimen and 9.2% of infants were weaned according to a vegetarian or vegan diet. The breastfeeding duration was longer in vegetarian/vegan infants (15.8 vs. 9.7 months; p < 0.0001). Almost half of parents (45.2%) claim that their pediatrician was unable to provide sufficient information and adequate indications regarding unconventional weaning and 77.4% of parents reported the pediatrician's resistance towards alternative weaning methods. Nine studies were suitable for the review process. The vast majority of authors agree on the fact that vegetarian and vegan weaning may cause severe nutritional deficiencies, whose detrimental effects are particularly significant in the early stages of life. DISCUSSION AND CONCLUSION: Our results show that alternative weaning methods are followed by a significant number of families; in half of the cases, the family pediatrician was not perceived as an appropriate guide in this delicate process. To date, consistent findings to support both the safety and feasibility of alternative weaning methods are still lacking. Since the risk of nutritional deficiencies in the early stages of life is high, pediatricians have a pivotal role in guiding parents and advising them on the most appropriate and complete diet regimen during childhood. Efforts should be made to enhance nutritional understanding among pediatricians as an unsupervised vegetarian or vegan diet can cause severe nutritional deficiencies with possible detrimental long-term effects.

Premature Birth is an Independent Risk Factor for Early Adiposity Rebound: Longitudinal Analysis of BMI Data from Birth to 7 Years.

Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs physiologically between five and seven years of age. AR timing has a great impact on patients' health, since early adiposity rebound (EAR) is associated with the development of metabolic syndrome later in life. We aimed to investigate the prevalence of EAR in a cohort of inborn preterm infants admitted to the Neonatal Intensive Care Section of the Policlinico University Hospital of Bari, Italy. Secondarily, we assessed whether some determinants such as (1) gender; (2) delivery mode; (3) birth weight and classification into small, normal, or large for gestational age; (4) type of feeding; (5) breastfeeding duration; (6) timing of introduction of solid food; (7) parental education; and (8) parental pre-pregnancy body mass index (BMI) influenced EAR in this cohort. The tertiary aim was to evaluate the prevalence of obesity or being overweight at seven years of age in children according to early versus timely AR. This is a prospective, population-based longitudinal study conducted at the Neonatal Intensive Care Section of the Policlinico University Hospital of Bari, Italy. Inborn preterm infants admitted to the neonatal ward between 2009 and 2011 were eligible. Enrolled preterm infants were evaluated at birth and at 1, 3, 6, 9, 12, 15, 18, and 24 months and 3, 4, 5, 6, and 7 years of age. Weight and height data were analyzed, and BMI was calculated. AR was assessed in the growth trajectory in a body mass index (BMI) plot. Of the 250 preterm newborns included, 100 completed the seven-year follow-up and entered the final analysis, 138 were lost during the seven-year follow-up, and in 12 cases parents withdrew over the course of the study. The prevalence of EAR in our cohort of preterm newborns was 54% at seven years of age. Early adiposity rebound was associated with being large for gestational age (LGA) at birth. No other factors were associated with EAR. Early adiposity rebounders had a significantly higher BMI at seven years compared to children with timely AR (17.2 ± 2.7 vs. 15.6 ± 2.05, p = 0.021). No significant differences were found in the prevalence of obesity or being overweight at seven years of age in children with early or timely AR (29% vs. 14%, p = 0.202). Ex-preterm infants have an increased risk of EAR. Since EAR may lead to long-term detrimental health effects with the onset of various chronic diseases (e.g., obesity, metabolic syndrome, etc.), healthcare providers should be prepared to counteract its occurrence, especially in delicate sub-populations of infants.

Hydrolyzed Protein Formula for Allergy Prevention in Preterm Infants: Follow-Up Analysis of a Randomized, Triple-Blind, Placebo-Controlled Study.

Background: Allergic diseases are a major public health burden worldwide. Evidence suggests that early nutrition might play a key role in the future development of allergies and the use of hydrolyzed protein formulas have been proposed to prevent allergic disease, mainly in term infants with risk factors. Aim: To evaluate the preventive effect of a hydrolyzed protein formula vs. an intact protein formula on allergy development in preterm infants with or without risk factors. Methods: We performed a 3-year follow-up study of a previous triple-blind, placebo-controlled randomized trial. Evidence of atopic dermatitis, asthma and IgE-mediated food allergies were evaluated according to a validated parental questionnaire (Comprehensive Early Childhood Allergy Questionnaire). Food sensitization was also investigated by skin prick test at 3 years of chronological age. Results: Of the 30 subjects in the intact protein formula group and 30 in the extensively hydrolyzed formula group, respectively 18 and 16 completed the 3-year follow-up and entered the final analysis. No group differences in the incidence of atopic dermatitis, asthma, IgE-mediated food allergies, and food sensitization were found. Conclusion: Despite the small number of cases, extensively hydrolyzed protein formula seems to be ineffective in allergic diseases prevention in preterm neonates. Further adequately powered, randomized controlled trials evaluating hydrolyzed protein formula administration to prevent allergic diseases in preterm neonates are needed.

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.

Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a homozygous deletion affecting the last exons of the COLQ gene in a CMS patient born to consanguineous parents of Pakistani origin. Electromyography (EMG), electroencephalography (EEG), clinical exome sequencing (CES), and single nucleotide polymorphism (SNP) array analyses were performed. The subject was born at term after an uneventful pregnancy and developed significant hypotonia and dystonia, clinical pseudoseizures, and recurring respiratory insufficiency with a need for mechanical ventilation. CES analysis of the patient revealed a homozygous deletion of the COLQ gene located on the 3p25.1 chromosome region. The SNP-array confirmed the presence of deletion that extended from exon 11 to the last exon 17 with a size of 19.5 Kb. Our results add new insights about the underlying pathogenetic mechanisms expanding the spectrum of causative COLQ mutations. It is relevant, considering the therapeutic implications, to apply suitable molecular approaches so that no type of mutation is missed: "each lost mutation means a baby treated improperly".

Resveratrol plus carboxymethyl-ß-glucan in infants with common cold: A randomized double-blind trial.

OBJECTIVES: To evaluate effectiveness of a nasal resveratrol/carboxymethyl-ß-glucan solution compared to nasal saline solution: a) on common cold symptoms by means of a validated measure scale (CARIFS score), b) on Rhinovirus infection and CCL2, CCL5, IL8, IL6, CXCL10 and TLR2 expression in nasal swabs, c) on frequency of relapses after 30 days of follow-up. METHODS: 89 infants with respiratory infection symptoms were randomly assigned to receive either a nasal resveratrol/carboxymethyl-ß-glucan solution or nasal saline solution.All patients were evaluated with CARIFS score at enrollment, after 48 h, 7 and 30 days by physicians and parents. Nasal swabs were obtained at enrollment, after 48 h and after one week. RESULTS: CARIFS score improved in both groups. Episodes of sneezing and cough were fewer in study group after 7 days of follow-up (p < 0.05). No significant differences were found on nasopharyngeal swabs in Rhinovirus detection and cytokines expression after 48 h, nor in 30 days relapses. TLR2 expression was significantly higher in Rhinovirus infected children of the study group. No adverse effects occurred. CONCLUSIONS: These data suggest that a solution containing resveratrol plus carboxymethyl-ß-glucan might have a positive impact on both clinical and socio-economic burden due to infant common cold.

Acute Bronchiolitis: Is There a Role for Lung Ultrasound?

INTRODUCTION: Viral bronchiolitis is a common cause of lower respiratory tract infection in the first year of life, considered a health burden because of its morbidity and costs. Its diagnosis is based on history and physical examination and the role of radiographic examination is limited to atypical cases. Thus far, Lung Ultrasound (LUS) is not considered in the diagnostic algorithm for bronchiolitis. METHODS: PubMed database was searched for trials reporting on lung ultrasound examination and involving infants with a diagnosis of bronchiolitis. RESULTS: Eight studies were suitable. CONCLUSIONS: This review analyzed the current evidence about the potential usefulness of LUS in the clinical management of bronchiolitis. Literature supports a peculiar role of LUS in the evaluation of the affected children, considering it as a reliable imaging test that could benefit the clinical management of bronchiolitis.