Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

BACKGROUND: Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. CASES PRESENTATION: We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin ichtyosis (HI), epidermolytic ichtyosis (EI) and autosomal recessive ichtyosis with hypotrichosis (ARIH). Target next generation sequencing (NGS) analysis identified three novel mutations of the ABCA12, KRT1 and ST14 genes, respectively associated to such congenital ichtyoses, not reported in literature. Genomic investigation allowed to provide the more appropriate management to each patient, based on an individualized approach. CONCLUSIONS: Our report highlights the wide genetic heterogeneity and phenotypic variability of CI. It expands the current knowledge on such diseases, widening their genomic database, and providing a better clinical characterization. Furthermore, it underlines the clinical relevance of NGS, which is essential to address the management of patients. Indeed, it may guide towards the most adequate approach, preventing clinical obstinacy for subjects with more severe forms and unfavorable outcomes (together with the support, in such situations, of bioethicists included within the multidisciplinary care team), as well as reassuring families in those with milder course and favorable evolution.

Surveying family access: kangaroo mother care and breastfeeding policies across NICUs in Italy.

BACKGROUND: Studies on the application of developmental care initiatives in Italian NICUs are rather scarce. We aimed to assess parental access to the NICUs and facilities offered to the family members and to test "the state of art" regarding kangaroo mother care (KMC) and breastfeeding policies in level III Italian NICUs. METHODS: A questionnaire both in paper and in electronic format was sent to all 106 Italian level III NICUs; 86 NICUs (i.e., 80% of NICUs) were completed and returned. The collected data were analysed. In addition, a comparison between the 2017 survey results and those of two previous surveys conducted from 2001 to 2006 was performed. RESULTS: In total, 53 NICUs (62%) reported 24-h open access for both parents (vs. 35% in 2001 and 32% in 2006). Parents were requested to temporarily leave the unit during shift changes, emergencies and medical rounds in 55 NICUs (64%). Some parental amenities, such as an armchair next to the crib (81 units (94%)), a room for pumping milk and a waiting room, were common, but others, such as family rooms (19 units (22%)) and adjoining accommodation (30 units (35%)), were not. KMC was practised in 81 (94%) units, but in 72 (62%), i.e., the majority of units, KMC was limited to specific times. In 11 (13%) NICUs, KMC was not offered to the father. The average duration of a KMC session, based on unit staff estimation, was longer in 24-h access NICUs than in limited-access NICUs. KMC documentation in medical records was reported in only 59% of questionnaires. Breastfeeding was successful in a small proportion of preterm infants staying in the NICU. CONCLUSION: The number of 24-h access NICUs doubled over a period of 13 years. Some basic family facilities, such as a dedicated kitchen, rooms with dedicated beds and showers for the parents, remain uncommon. KMC and breastfeeding have become routine practices; however, the frequency and duration of KMC sessions reported by NICU professionals still do not meet the WHO recommendations.

Development of a Weighted-Incidence Syndromic Combination Antibiogram (WISCA) to guide the choice of the empiric antibiotic treatment for urinary tract infection in paediatric patients: a Bayesian approach.

BACKGROUND: To evaluate the ability of Weighted-Incidence Syndromic Combination Antibiograms (WISCA) to inform the selection of empirical antibiotic regimens for suspected paediatric community-acquired urinary tract infections. METHODS: Data were collected from outpatients (< 15 years) accessing the emergency rooms of Padua University-Hospital and Mestre Dell' Angelo-Hospital (Venice) between January 1st, 2016, and December 31st, 2018. WISCAs were developed by estimating the coverage of eight regimens using a Bayesian hierarchical model adjusted for age, sex, and previous antibiotic treatment or renal/urological comorbidities. RESULTS: 385 of 620 urine culture requests were included in the model analysis. The most frequently observed bacterium was E. coli (85% and 87%, Centre A and B). No centre effect on coverage estimates was found, and data were successfully pooled together. Coverage ranged from 77.8% (Co-trimoxazole) to 97.6% (Carbapenems). Complex cases and males had significantly lower odds of being covered by a regimen than non-complex cases and females (odds ratio (OR) 0.49 [95% HDI, 0.38-0.65], and OR: 0.73 [95% HDIs, 0.56-0.96] respectively). Children aged 3-5 years had lower odds of being covered by a regimen than other age groups, except for neonates. CONCLUSIONS: The developed WISCAs provide highly informative estimates on coverage patterns overcoming the limitation of combination antibiograms and expanding the framework of previous Bayesian WISCA algorithm.

Infantile perineal protrusion in two monochorionic twins.

Case Report Two female monochorionic-monoamniotic twins showed the same kind of infantile perineal protrusion (IPP) at birth. Lesions in both twins progressively healed until resolution in 6 weeks' time; none of the twins have manifested, till date, alvus disturbances. Discussion and Literature Review A literature review numbers approximately 100 reports of IPP. This condition has been classically classified into three categories: congenital/familiar (i.e., female sex, positive parental history of IPP), acquired (mainly due to constipation), and associated with lichen sclerosus et atrophicus. Conclusions and Final Remarks This case report describes, for the first time, the presence of IPP in monochorionic-monoamniotic twins, supporting the existence of hereditary/genetic factors in the developing of this condition.

Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.

Genomic imprinting is an epigenetic phenomenon resulting in differential expression of maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted genes often results in contrasting phenotypes, depending on parental origin. The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the growth restriction-associated Silver-Russell syndrome (SRS) have been linked with a variety of epigenetic and genetic defects affecting a cluster of imprinted genes at chromosome 11p15.5. Paternally derived and maternally derived 11p15.5 duplications represent infrequent findings in BWS and SRS, respectively. Here, we report a case in which a 6.5 Mb duplication of 11p15.4-pter resulted in SRS and BWS phenotypes in a child and her mother, respectively. Molecular analyses demonstrated that the duplication involved the maternal chromosome 11p15 in the child and the paternal chromosome 11p15 in the mother. This observation provides a direct demonstration that SRS and BWS represent specular images, both at the clinical and molecular levels.

Knowledge gained by pediatric residents after neonatal resuscitation program courses.

BACKGROUND: The efficacy of the Neonatal Resuscitation Program (NRP) courses was previously evaluated, demonstrating good retention of knowledge in the participants. However, there is a lack of information regarding the participants' performance in relation to the different steps of neonatal resuscitation. We aimed to assess the knowledge gained and retained by pediatric residents who participated in a NRP course in relation to the different steps. METHODS: An 80-item questionnaire derived from the standard test contained in the American Heart Association and American Academy of Pediatrics Neonatal Resuscitation Manual was given to 25 pediatric residents before, immediately after and 6 months after the course. RESULTS: The percentages of correct answers significantly improved from before (37.6 +/- 3.1%) to immediately after the course (94.1 +/- 0.9%) (P < 0.001). The percentages at the 6 months follow-up test (62.7 +/- 2.2%) significantly decreased from posttest (P < 0.001), but remained significantly higher with respect to pretest performance (P < 0.001). The percentages of correct answers were different among the four neonatal resuscitation steps during the entire study (pretest, posttest and follow-up test). CONCLUSIONS: The knowledge gained by pediatric residents participating in the NRP course was very high, but was only partially retained over time. In particular, it was different among the four steps of neonatal resuscitation suggesting further studies on teaching resuscitation.