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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.

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., (© 2022. The Author(s).)

Background: Recent explorative studies suggest that propranolol reduces retinopathy of prematurity (ROP) progression, but the short-term effects of propranolol treatment at 1 year of corrected age have not been extensively evaluated. Methods: A multi-center retrospective observational cohort study was conducted to assess the physical development and the refractive outcome of infants with prior ROP treated with propranolol. Forty-nine infants treated with propranolol were compared with an equal number of patients who did not receive any propranolol therapy and represent the control group, with comparable anthropometrical characteristics and stages of ROP. Results: The weight, length, and head circumference at 1 year of corrected age were similar between infants who had been treated, or not, with propranolol, without any statistically significant differences. Refractive evaluation at 1 year showed spherical equivalent values decreasing with the progression of ROP toward more severe stages of the disease, together with an increasing number of infants with severe myopia. On the contrary, no differences were observed between infants who had been treated with propranolol and those who had not. Conclusion: This study confirms that the progression of ROP induces an increase of refractive errors and suggests that propranolol itself does not affect the refractive outcome. Therefore, if the efficacy of propranolol in counteracting ROP progression is confirmed by further clinical trials, the conclusion will be that propranolol might indirectly improve the visual outcome, reducing the progression of ROP., (Copyright © 2019 Filippi, Cavallaro, Perciasepe, Sandini, Araimo, Regiroli, Raffaeli, Bagnoli, Dal Monte, Calvani, Fortunato, Osnaghi, De Masi and Mosca.)

Introduction: Preterm infants (PIs) are at increased risk of vaccine-preventable diseases (VPDs). However, delayed vaccination start and low vaccine coverage are still reported. Areas covered: This systematic review includes 37 articles on preterm vaccination published in 2008-2018 in PubMed. Both live attenuated and inactivated vaccines are safe and well tolerated in PIs. Local reactions, apnea, and reactivity changes are the most frequently reported adverse events. Lower gestational age and birth weight, preimmunization apnea, longer use of continuous positive airway pressure (CPAP) are risk factors for apnea. The proportion of PIs who develop protective humoral and cellular immunity is generally similar to full terms although later gestational age is associated with increased antibody IgG concentrations (i.e. against certain pneumococcal serotypes, influenza, hepatitis B virus and poliovirus 1) and increased mononuclear cells proliferation (i.e. after inactivated poliovirus). Expert opinion: PIs can be safely and adequately protected by available vaccines with the same schedule used for full terms. Data at this regard have been retrieved by studies using a 3-dose primary series for pneumococcal and hexavalent vaccines. Further studies are needed regarding the 2 + 1 schedule. Apnea represents a nonspecific stress response in PIs, thus those hospitalized at 2 months should have cardio-respiratory monitoring after their first vaccination.

Aim: The effect of a supernumerary X chromosome on bones has not been reported, and this study evaluated bone mineral status and metabolism in nonmosaic triple X syndrome., Methods: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations. We also measured the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) Z-scores., Results: Patients with nonmosaic triple X syndrome showed significantly reduced AD-SoS (p < 0.005) and BTT Z-scores (p < 0.0001) compared to the control group, and these results persisted when we divided the sample into prepubertal and pubertal patients (p < 0.05). These patients also had significantly reduced ionised calcium (p < 0.005) and 25(OH)D levels (p < 0.005) and higher phosphate (p < 0.0001) and PTH (p < 0.0001) levels., Conclusion: Subjects with nonmosaic triple X syndrome exhibited a significant impairment in bone mineral status and metabolism similar to other X polisomy, such as Klinefelter's syndrome. This suggests the presence of a primary bone deficit and the need for regular and close monitoring of these subjects., (©2017 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Psoriasis was previously considered to be mostly a Th1 cell-related disorder, but Th17 cell has recently emerged as an important player in the pathogenesis of psoriasis. The Th17 immune pathway is increased in psoriatic patients, both in peripheral circulation and in skin lesions, and positively correlates with the Psoriasis Area and Severity Index. Anti-tumor necrosis factor alpha (TNF-α) agents, in addition to potent inhibition of TNF-α activity, are able to decrease IL-17 levels and Th17 cells in the skin and plasma of patients with moderate-to-severe psoriasis. We found a decrease in the median Th17 cell count in peripheral blood after 4 months' therapy with anti-TNF-α compared with baseline values, but the difference did not reach statistical significance, probably due to the small cohort size. Our data suggest that anti-TNF-α treatment for psoriasis is able to achieve a substantial Th17 cell count reduction in the peripheral blood of patients and that this decrease is significantly associated with an adequate response to biologic therapy, as previous studies in rheumatoid arthritis have shown., (© 2014 Wiley Periodicals, Inc.)

Cutaneous infections might occur in up to 80% of organ transplant recipients (OTR) and viral infections are the most common them. The risk of different skin infection is among related to the intensity of immunosuppression. During the first post-transplant period, herpes viruses are most common. After some months following transplantation, human papilloma viruses represent the most significant infections among OTR. Reactivation of herpes simplex virus in OTR can become more invasive, takes longer to heal, and shows greater potential for dissemination to visceral organs compared to the general population. Specific immunosuppressive drugs (namely muromonab and mycophenolate mofetil) have been associated with an increased risk of herpes virus reactivation after transplantation. On the other hand, there is evidence that the mTOR inhibitors, such as everolimus, may be associated with a decreased incidence of herpesvirus infections in transplant recipients. The incidence of herpes zoster in OTR is 10 to 100 fold higher than the general population, ranging from 1% to 12%. The chronic immunosuppression performed in OTR may lead to persistent replication of herpesviruses, dissemination of the virus with multivisceral involvement (hepatitis, pneumonitis, myocarditis, encephalitis and disseminated intravascular coagulation) and eventually, the emergence of antiviral-drug resistance. Viral warts are the most common cutaneous infection occurring in OTR. The number of warts increases with the duration of immunosuppressive therapy. Since warts in organ recipients are frequently multiple and only rarely undergo spontaneous regression, the therapeutic management of warts in patients treated with immunosuppressive drugs might be challenging. Imiquimod, 1% cidofovir ointment, acitretin proved to be useful off-label strategies for recalcitrant cutaneous viral warts in OTR. Extensive and atypical presentation of molluscum contagiosum has been also reported in OTR, with a prevalence between 3% to 6.9%. Giant molluscum contagiosum is a clinical variant in which large nodule greater than 0.5-1 cm in diameter are observed.