Hemihypertrophy of one leg and congenital retroperitoneal tumor: Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) belongs to the so-called imprinting disorders and has an incidence of 1:15’000 – 26’000. It is characterized as an overgrowth syndrome with variable expression of symptoms such as exomphalos, macroglossia, neonatal hypoglycemia, earlobe creases, hemihypertrophy, perinatal overgrowth and an increased risk of embryonic tumors. Genomic imprinting leads to an altered expression of gene parts dependent on parental heredity due to DNA-methylation. The affected (imprinted) regions in BWS are typically located on chromosome 11p15.5. The respective genes have regulatory function for cellular growth with the epigenetic changes leading to either decreased inhibition or increased expression of growth promoting genes. In BWS, about 50 % of the infants show a loss of methylation in the Imprinting Control Region (ICR)-2, normally expressed by the maternal chromosome only, leading to a reduced expression of a growth inhibitor gene (CDKN1C). In 5 –10 % of BWS, gain of methylation in the telomeric ICR-1 results in an increased expression of the insulin-growth-factor-2 gene (usually only expressed by the paternal allele) and a reduced expression of the oncosuppressor gene H19 which is usually expressed by the maternal allele. 20 –25 % of patients with BWS show paternal uniparental disomy (UPD) of chromosome 11 (patUPD11) resulting in an altered methylation at both regions ICR-1 and ICR-2 with only paternal alleles. In 10 % of all BWS cases, the reason remains unclear with unknown molecular defects

Face masks for the public during the covid-19 crisis

No abstract available

Musical and vocal interventions to improve neurodevelopmental outcomes for preterm infants

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: We will assess the overall efficacy of auditory stimulation for physiological and neurodevelopmental outcomes in preterm infants (< 37 weeks' gestation), compared to standard care. In addition, we will determine specific effects of various musical and vocal interventions for physiological, anthropometrical, social‐emotional, neurodevelopmental short‐ and long‐term outcomes in preterm infants, parental well‐being, and bonding

Maternal and perinatal outcomes following pre-Delta, Delta, and Omicron SARS-CoV-2 variants infection among unvaccinated pregnant women in France and Switzerland: a prospective cohort study using the COVI-PREG registry

BACKGROUND SARS-CoV-2 positive pregnant women are at higher risk of adverse outcomes, but little evidence is available on how variants impact that risk. We aim to evaluate maternal and perinatal outcomes among unvaccinated pregnant women that tested positive for SARS-CoV-2, stratified by pre-Delta, Delta, and Omicron periods. METHODS This prospective study enrolled women from March 2020 to September 2022. Exposure to the different SARS-CoV-2 variants was defined by their periods of predominance. The primary outcome was severe maternal adverse outcome defined as either intensive care unit admission, acute respiratory distress syndrome, advanced oxygen supplementation, or maternal death. The secondary outcomes were preterm birth and other perinatal outcomes. FINDINGS Overall, 1402, 262, and 391 SARS-CoV-2 positive pregnant women were enrolled during the pre-Delta, Delta, and Omicron periods respectively. Severe maternal adverse outcome was reported in 3.4% (n = 947/1402; 95% confidence intervals (95%CI) 2.5-4.5), 6.5% (n = 7/262; 95%CI 3.8-10.2), and 1.0% (n = 4/391; 95%CI 0.3-2.6) of women during the pre-Delta, Delta, and Omicron periods. The risk of severe maternal adverse outcome was higher during the Delta vs pre-Delta period (adjusted risk ratio (aRR) = 1.8; 95%CI 1.1-3.2) and lower during the Omicron vs pre-Delta period (aRR = 0.3; 95%CI, 0.1-0.8). The risks of hospitalization for COVID-19 were 12.6% (n = 176/1402; 95%CI 10.9-14.4), 17.2% (n = 45/262; 95%CI 12.8-22.3), and 12.5% (n = 49/391; 95%CI 9.4-16.2), during the pre-Delta, Delta, and Omicron period, respectively. Pregnancy complications occurred after SARS-CoV-2 exposure in 30.0% (n = 363/1212; 95%CI 27.4-32.6), 35.2% (n = 83/236; 95%CI 29.1-41.6), and 30.3% (n = 105/347; 95%CI 25.5-35.4) of patients during the pre-Delta, Delta, and Omicron periods, respectively. Stillbirths were reported in 0.5% (n = 6/1159; 95%CI 0.2-1.1), 2.8% (n = 6/210; 95%CI 1.0-6.0), and 0.9% (n = 2/213; 95%CI 0.1-3.4) or patients during the pre-Delta, Delta, and Omicron periods respectively. INTERPRETATION The Delta period was associated with a higher risk of severe maternal adverse outcome and the Omicron period with a lower risk of severe adverse outcome compared to pre-Delta era. The reported risk of hospitalization was high during the Omicron period and should not be trivialized. FUNDING Swiss Federal Office of Public Health, Fondation CHUV

Case report: Intrapulmonary tidal volumes in a preterm infant with chest wall rigidity

BACKGROUND Chest wall rigidity is a known side effect of fentanyl use, which is why fentanyl is usually combined with a muscle relaxant such as mivacurium. Verifying endotracheal intubation is difficult in case of a rigid chest wall. CASE PRESENTATION We present the case of a preterm infant (29 completed weeks gestation, birth weight 1,150 g) with a prolonged chest wall rigidity after fentanyl administration for intubation despite adequate doses of mivacurium. This resulted in a pronounced desaturation without any effect on heart rate. Clinically, the infant showed no chest wall movement despite intubation and common tools to verify intubation (including end-tidal carbon dioxide measurement and auscultation) were inconclusive. However, using electrical impedance tomography (EIT), we were able to demonstrate minimal tidal volumes at lung level and thereby, EIT was able to accurately show correct placement of the endotracheal tube. CONCLUSIONS This case may increase vigilance for fentanyl-induced chest wall rigidity in the neonatal population even when simultaneously administering mivacurium. Higher airway pressures exceeding 30 mmHg and the use of μ-receptor antagonists such as naloxone should be considered to reverse opioid-induced chest wall rigidity. Most importantly, our data may imply a relevant clinical benefit of using EIT during neonatal intubation as it may accurately show correct endotracheal tube placement

Rescue nasopharyngeal tube for preterm infants non-responsive to initial ventilation after birth

BACKGROUND Physiological changes during the insertion of a rescue nasopharyngeal tube (NPT) after birth are unclear. METHODS Observational study of very preterm infants in the delivery room. Data were extracted at predefined timepoints starting with first facemask placement after birth until 5 min after insertion of NPT. End-expiratory lung impedance (EELI), heart rate (HR) and SpO$_{2}$/FiO$_{2}$-ratio were analysed over time. Changes during the same time span of NIPPV via facemask and NIPPV via NPT were compared. RESULTS Overall, 1154 inflations in 15 infants were analysed. After NPT insertion, EELI increased significantly [0.33 AU/kg (0.19-0.57), p < 0.001]. Compared with the mask period, changes in EELI were not significantly larger during the NPT period [median difference (IQR) = 0.14 AU/kg (-0.14-0.53); p = 0.12]. Insertion of the NPT was associated with significant improvement in HR [52 (33-96); p = 0.001] and SpO$_{2}$/FiO$_{2}$-ratio [161 (69-169); p < 0.001] not observed during the mask period. CONCLUSIONS In very preterm infants non-responsive to initial facemask ventilation after birth, insertion of an NPT resulted in a considerable increase in EELI. This additional gain in lung volume was associated with an immediate improvement in clinical parameters. The use of a NPT may prevent intubation in selected non-responsive infants. IMPACT After birth, a nasopharyngeal tube may be considered as a rescue airway in newborn infants non-responsive to initial positive pressure ventilation via facemask. Although it is widely used among clinicians, its effect on lung volumes and physiological parameters remains unclear. Insertion of a rescue NPT resulted in a considerable increase in lung volume but this was not significantly larger than during facemask ventilation. However, insertion of a rescue NPT was associated with a significant and clinically important improvement in heart rate and oxygenation. This study highlights the importance of individual strategies in preterm resuscitation and introduces the NPT as a valid option

Early prediction of pulmonary outcomes in preterm infants using electrical impedance tomography

INTRODUCTION Electrical impedance tomography (EIT) allows assessment of ventilation and aeration homogeneity which may be associated with respiratory outcomes in preterm infants. METHODS This was a secondary analysis to a recent randomized controlled trial in very preterm infants in the delivery room (DR). The predictive value of various EIT parameters assessed 30 min after birth on important respiratory outcomes (early intubation <24 h after birth, oxygen dependency at 28 days after birth, and moderate/severe bronchopulmonary dysplasia; BPD) was assessed. RESULTS Thirty-two infants were analyzed. A lower percentage of aerated lung volume [OR (95% CI) = 0.8 (0.66-0.98), p = 0.027] as well as a higher aeration homogeneity ratio (i.e., more aeration in the non-gravity-dependent lung) predicted the need for supplemental oxygen at 28 days after birth [9.58 (5.16-17.78), p = 0.0028]. Both variables together had a similar predictive value to a model using known clinical contributors. There was no association with intubation or BPD, where numbers were small. DISCUSSION In very preterm infants, EIT markers of aeration at 30 min after birth accurately predicted the need for supplemental oxygen at 28 days after birth but not BPD. EIT-guided individualized optimization of respiratory support in the DR may be possible

Interventions to Reduce Medication Dispensing, Administration, and Monitoring Errors in Pediatric Professional Healthcare Settings: A Systematic Review

Introduction: Pediatric patients cared for in professional healthcare settings are at high risk of medication errors. Interventions to improve patient safety often focus on prescribing; however, the subsequent stages in the medication use process (dispensing, drug administration, and monitoring) are also error-prone. This systematic review aims to identify and analyze interventions to reduce dispensing, drug administration, and monitoring errors in professional pediatric healthcare settings. Methods: Four databases were searched for experimental studies with separate control and intervention groups, published in English between 2011 and 2019. Interventions were classified for the first time in pediatric medication safety according to the "hierarchy of controls" model, which predicts that interventions at higher levels are more likely to bring about change. Higher-level interventions aim to reduce risks through elimination, substitution, or engineering controls. Examples of these include the introduction of smart pumps instead of standard pumps (a substitution control) and the introduction of mandatory barcode scanning for drug administration (an engineering control). Administrative controls such as guidelines, warning signs, and educational approaches are lower on the hierarchy and therefore predicted by this model to be less likely to be successful. Results: Twenty studies met the inclusion criteria, including 1 study of dispensing errors, 7 studies of drug administration errors, and 12 studies targeting multiple steps of the medication use process. A total of 44 interventions were identified. Eleven of these were considered higher-level controls (four substitution and seven engineering controls). The majority of interventions (n = 33) were considered "administrative controls" indicating a potential reliance on these measures. Studies that implemented higher-level controls were observed to be more likely to reduce errors, confirming that the hierarchy of controls model may be useful in this setting. Heterogeneous study methods, definitions, and outcome measures meant that a meta-analysis was not appropriate. Conclusions: When designing interventions to reduce pediatric dispensing, drug administration, and monitoring errors, the hierarchy of controls model should be considered, with a focus placed on the introduction of higher-level controls, which may be more likely to reduce errors than the administrative controls often seen in practice. Trial Registration Prospero Identifier: CRD42016047127

Creative music therapy for long-term neurodevelopment in extremely preterm infants: Results of a feasibility trial

AIM: We tested the feasibility of a future randomised clinical trial (RCT) in which Creative Music Therapy (CMT), a family-integrating individualised approach in neonatal care, could improve neurodevelopment in extremely preterm infants (EPTs). METHODS: In this feasibility trial, 12 EPTs received CMT, while the remaining 19 received standard neonatal care. Socio-demographic data and perinatal complications were compared between groups as risk factors. Bayley Scales of Infant and Toddler Development at 2-year follow-up (FU2) and KABC-II-Kaufman Assessment Battery for Children at 5-year follow-up (FU5) were analysed using the Mann-Whitney U-tests. RESULTS: Twenty-seven (87.1%) and 18 (58.1%) EPTs attended the FU2 and FU5 examination, respectively. The rate of neurodevelopmental risk factors at birth of the two groups was quite similar. While there was no difference in the FU2 outcomes between groups, there were higher values in the CMT group's Fluid-Crystallised Index of the KABC-II. CONCLUSION: Our results indicate neither a beneficial nor a detrimental effect of CMT on neurodevelopment at 2 years but a trend of improved cognitive outcomes at 5 years more similar to cognitive scores of term-born infants than of standard treatment EPTs. The findings favour an RCT but must be interpreted cautiously due to the reduced sample size and non-randomised design

Individual contextual factors in the validation of the Bernese pain scale for neonates: protocol for a prospective observational study

Background: The Bernese Pain Scale for Neonates (BPSN) is a multidimensional pain assessment tool that is already widely used in clinical settings in the German speaking areas of Europe. Recent findings indicate that pain responses in preterm neonates are influenced by individual contextual factors, such as gestational age (GA), gender and the number of painful procedures experienced. Currently, the BPSN does not consider individual contextual factors. Therefore, the aim of this study is the validation of the BPSN using a large sample of neonates with different GAs. Furthermore, the influence of individual contextual factors on the variability in pain reactions across GA groups will be explored. The results will be used for a modification of the BPSN to account for individual contextual factors in future clinical pain assessment in neonates. Methods and design: This prospective multisite validation study with a repeated measures design will take place in three university hospital neonatal intensive care units (NICUs) in Switzerland (Bern, Basel and Zurich). To examine the impact of GA on pain responses and their variability, the infants will be stratified into six GA groups ranging from 24 0/7 to 42 0/7. Among preterm infants, 2–5 routine capillary heel sticks within the first 14 days of life, and among full-term infants, two heel sticks during the first days of life will be documented. For each heel stick, measurements will be video recorded for each of three phases: baseline, heel stick, and recovery. The infants’ pain responses will be rated according to the BPSN by five nurses who are blinded as to the number of each heel stick and as to the measurement phases. Individual contextual factors of interest will be extracted from patient charts. Discussion: Understanding and considering the influence of individual contextual factors on pain responses in a revised version of the BPSN will help the clinical staff to more appropriately assess pain in neonates, particularly preterm neonates hospitalized in NICUs. Pain assessment is a first step toward appropriate and efficient pain management, which itself is an important factor in later motor and cognitive development in this vulnerable patient population. Trial registration: The study is registered in the database of Clinical Trial gov. Study ID-number: NCT 02749461. Registration date: 12 April 2016. Keywords: Pain assessment, Premature infants, Contextual factors, Diagnosti