Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.

Safety use of high frequency oscillatory ventilation in transport of newborn infants affected by severe respiratory failure: preliminary data in central Tuscany.

BACKGROUND: Neonatal Emergency Transport Services play a fundamental role in neonatal care. Stabilization before transport of newborns suffering from severe respiratory failure is often a challenging problem and some critically ill infants may benefit from High Frequency Oscillatory Ventilation (HFOV) as rescue treatment. In these cases, transition to conventional ventilation for transport may cause a deterioration in clinical conditions. HFOV during neonatal transport has been only exceptionally used, due to technical difficulties. Since May 2018, a new neonatal transport unit is available at the Neonatal Protected Transport Service of the Meyer University Hospital in Florence, equipped with a pulmonary ventilator capable of delivering HFOV. Therefore, we conducted an analysis on patients transferred in HFOV to Neonatal Intensive Care Unit (NICU), in order to evaluate the safety and feasibility of its use during neonatal transport. METHODS: A retrospective analysis was performed reviewing medical records of the neonates transported by Meyer Children Hospital's Neonatal Transport Service between May 2018 and December 2020, and newborns treated with HFOV during ground neonatal transport were identified. Safety was assessed by the comparison of vital signs, hemogas-analysis values and pulmonary ventilator parameters, at the time of departure and upon arrival in NICU. The dose of inotropes, the main respiratory complications (air leak, dislocation or obstruction of the endotracheal tube, loss of chest vibrations) and the number of deaths and transfer failures were recorded. RESULTS: Out of the approximate 400 newborns transported during the analysis period, 9 were transported in HFOV. We did not find any statistically significant difference in vital parameters, hemogas-analytical values and pulmonary ventilator settings recorded before and after neonatal transport of the nine patients' parameters (p > 0,05). No patient required additional inotropes during transport. No transport-related deaths or significant complications occurred during transport. CONCLUSIONS: The interest of our report is in the possibility of using HFOV during inter-hospital neonatal transfer. As far as our experience has shown, HFOV appears to be safe for the transportation of newborns with severe respiratory failure. Nevertheless, further larger, prospective and multicentre studies are needed to better evaluate the safety and efficacy of HFOV during neonatal transport.

Feeding Practices in Very Preterm and Very Low Birth Weight Infants in an Area Where a Network of Human Milk Banks Is in Place.

Background: Great variability in enteral feeding practices for very preterm (<32 weeks gestational age-GA) and very low birth weight infants (VLBW; ≤1,500 g) have been reported. We aimed to describe data on enteral feeding in Tuscany (Italy), where a network of 6 donor milk banks is in place. Methods: A 4-years (2012-2015) observational study was performed analyzing the database "TIN Toscane online" on very preterm and VLBW infants. The database covers all 25 hospitals with a neonatal unit. Results: Data concerning the beginning of enteral nutrition were available for 1,302 newborns with a mean (standard deviation) GA of 29.3 (2.9) weeks, while information at the time of full enteral nutrition was available for 1,235 and at discharge for 1,140. Most infants (74.1%) started enteral feeding during the first 24 h of life. Overall, 80.1% of newborns were fed exclusive human milk, donor milk having the larger prevalence of use (66.8%). Few infants (13.3%) started with exclusive mother's milk. Full enteral feeding was achieved using exclusive human milk in most cases (80%). Full enteral feeding was reached earlier in newborns who were fed human milk than in those fed formula, regardless of GA. Sixty-four percent of infants were still fed with any human milk at discharge. When data at the achievement of full enteral nutrition and at discharge were analyzed stratified by the type of milk used to start enteral feeding, newborns initially fed donor milk presented the highest prevalence (91.3%) of exclusive human milk at full enteral feeding, an important period to prevent necrotizing enterocolitis, while no differences were observed at discharge. Conclusions: Donor milk was widely used for newborns during the first hours of life, when mother's milk availability may be quite challenging. Starting enteral nutrition with donor milk was associated with early start of enteral feeding and early achievement of full enteral nutrition without affecting mother lactation. The overall prevalence of human milk at discharge (when donor milk is not available anymore) was high (64%), irrespective of the type of milk used to start nutrition.