Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.

Introduction: Rare and ultra-rare genetic conditions significantly contribute to infant morbidity and mortality, often presenting with atypical features and genetic heterogeneity that complicate management. Rapid genome sequencing (RGS) offers a timely and cost-effective approach to diagnosis, aiding in early clinical management and reducing unnecessary interventions. This pilot study represents the inaugural use of next-generation sequencing (NGS) as a diagnostic instrument for critically ill neonatal and pediatric ICU patients in a Turkish hospital setting. Methods: Ten infants were enrolled based on predefined inclusion criteria, and trio RGS was performed. The mean age of the participants was 124 days, with congenital abnormalities being the most common indication for testing. Three patients had consanguineous parents. The mean turnaround time from enrollment to delivery of results was 169 h, with a diagnostic yield of 50%. Results: Three patients received a definitive molecular diagnosis, impacting their clinical management. Two patients benefited from the exclusion of Mendelian conditions, leading to alternative diagnoses. Discussion: This study demonstrates the feasibility and results of RGS in Turkish hospital settings, emphasizing the importance of timely genetic diagnosis in reducing the diagnostic odyssey for families and improving patient care. Further research is needed to evaluate the cost-effectiveness and applicability of RGS in the Turkish healthcare system for children with diseases of uncertain etiology.

Safety of different cord clamping strategies in the early postnatal period.

BACKGROUND: This study aimed to evaluate the effect of ICC (cord clamping within the first 15 s), DCC (delayed cord clamping at 60 s), and cut-UCM (cut-umbilical cord milking, cord clamping within the first 15 s) groups on oxygen saturation (SpO2), heart rate (HR), and perfusion index (PI) up to 10 min after birth in newborn infants. METHODS: We conducted this randomized clinical trial in the delivery unit of a University Hospital with 189 infants born between 35 and 42 weeks of gestation. Participants were randomly assigned to one of three groups: ICC, DCC, and cut-UCM. The primary outcomes measured were SpO2, HR, and PI at the 1st, 3rd, 5th, and 10th minutes after birth. We utilized ANOVA and Bayesian calculations in this study. RESULTS: There was no difference between the ICC, DCC, and cut-UCM groups in SpO2, HR, and PI values at the 1st, 3rd, 5th, and 10th minutes of life, which did not significantly alter between the three groups in one-way ANOVA. Bayesian repeated-measure ANOVA calculations showed that SpO2 and heart rate results at the 1st, 3rd, 5th, and 10th minutes did not differ between ICC, DCC, and cut-UCM techniques with strong evidence. At the 3rd minute, PI was slightly higher in the DCC and cut-UCM groups compared to the ICC group, with anecdotal evidence. We found no difference between DCC and cut-UCM regarding the 3rd-minute PI, with moderate evidence. CONCLUSION: Umbilical clamping procedures (ICC, DCC, and cut-UCM) did not affect SpO2 and HR in the first ten minutes of life, but 3rd-minute PI values were slightly higher in DCC and cut-UCM compared with ICC among late preterm and term neonates.

Prongs or Mask for Nasal Continuous Positive Airway Pressure in Neonates: Which One Is More Comfortable?

BACKGROUND: Nasal continuous positive airway pressure (NCPAP) is a common mode of respiratory support in neonatal intensive care units. Our objective was to compare whether NCPAP given with nasal prongs compared with a nasal mask reduces the pain scores in preterm infants with respiratory distress. METHODS: Preterm infants on NCPAP due to respiratory distress were included in the study. All infants received NCPAP via the Infant Flow SiPAP. The COVERS pain scale was used to score the infants' pain. Each infant was studied alternating between nasal prongs and a nasal mask. Heart rate, respiratory rate, oxygen saturation, and transcutaneous CO2 (tcCO2) were monitored. Blood pressure and the infants' pain scores were determined every 30 minutes and the average of measurements was taken. RESULTS: The median (interquartile range) values of pain scores, respiratory rates, oxygen saturations, tcCO2 levels, and systolic blood pressures differed significantly and favored the nasal mask. CONCLUSIONS: This study demonstrates that continuous positive airway pressure via a nasal mask leads to a significant reduction in pain scores without altering the respiratory parameters of babies. On the basis of this study, it is possible to conclude that NCPAP applied via nasal mask may be a good alternative to NCPAP applied via nasal prongs.

Utility of the Platelet-to-Lymphocyte Ratio in Diagnosing and Predicting Treatment Success in Preterm Neonates with Patent Ductus Arteriosus.

BACKGROUND: We investigated the predictive ability of the platelet-to-lymphocyte ratio (PLR) in preterm infants to discriminate those with and without hemodynamically significant PDA (hsPDA and non-hsPDA), hsPDA defined by those requiring medical intervention. METHODS: This observational retrospective cohort study included premature neonates (<34 weeks gestational age) with routine complete blood counts in a neonatal intensive care unit. RESULTS: PLR values on the 1st, 2nd, 3rd, and 7th days of birth were higher and lymphocyte counts were lower in the hsPDA than in the non-hsPDA group. Plateletcrit (PCT) values on the 2nd and 3rd days of birth were lower in the hsPDA group. All hsPDAs closed with medical therapy. CONCLUSIONS: PLR may be a supportive tool for predicting those preterm infants with PDAs requiring medical intervention. This may serve as a guide for future studies investigating the predictive value of PCT and PLR for hsPDA in preterm infants.

New Diagnostic Possibilities for Early Onset Neonatal Sepsis: Red Cell Distribution Width to Platelet Ratio.

Aims: Red cell distribution width to platelet ratio (RPR) has been reported as a useful inflammatory marker and prognostic indicator of adult inflammatory diseases. In the present study, red cell distribution width (RDW) and RPR parameters, which are parts of a complete blood count analysis, were compared to the traditional C reactive protein (CRP) and procalcitonin (PCT) parameters to investigate the potential to predict early onset sepsis (EOS) in neonates with or without positive blood cultures. Methods: An observational, retrospective cohort study was conducted to evaluate newborns born in our hospital. Results: RDW, RPR, CRP, PCT, Immature to total neutrophil ratio (I/T), and white blood cell (WBC) counts were higher in suspected and proven EOS compared to control group. Conclusion: We believe that RPR may be used in diagnosis of early onset neonatal sepsis and may be a good alternative to other tools as a readily available biomarker.

A Neglected and Promising Predictor of Severe Hyperbilirubinemia Due to Hemolysis: Carboxyhemoglobin.

Aims: We investigated the relationship between total serum bilirubin (TSB) and carboxyhemoglobin (COHb) in term neonates with detected and treated hemolysis within a particular time frame with the aim of augmenting the case for early diagnosis and prevention of morbidity in hemolysis. Materials and Methods: The study group comprised term newborns who were above the 95th percentile for TSB, underwent intravenous immunoglobulin (IVIG) or applied total exchange transfusion due to hemolysis. Newborns without hemolysis who were above the 95th TSB percentile and required phototherapy comprised the control group. Results: At a cutoff COHb value of 2.2%, 80.8% sensitivity, 95.5% specificity, 18.1 likelihood ratio, positive predictive value of 94.7%, and negative predictive value of 83.2% were identified. Conclusion: We found that COHb is a sensitive and specific method for detecting hemolysis, and it can be used in the early diagnosis of hemolytic diseases causing early and severe hyperbilirubinemia.

Platelet to Lymphocyte Ratio in Neonates: A Predictor of Early onset Neonatal Sepsis.

BACKGROUND: Neonatal sepsis (NS) is a common systemic disease that causes morbidity and mortality in newborns. But there is no ideal biomarker that can be used in the early diagnosis of NS. In recent studies, platelet to lymphocyte ratio (PLR) has been reported to play a critical role in the inflammatory process. In this study, we aimed to contribute to the research about whether or not PLR can be used as an early predictor of the diagnosis of NS. METHODS: This retrospective cohort study was conducted among the newborns born in Izmir Buca Maternity and Pediatric Hospital between March 2015-February 2016. During these twelve months, 611 neonates with Early-Onset Sepsis (EOS) were admitted to our neonatal intensive care unit. One hundred and forty-nine neonates with suspected EOS, 67 neonates with proven EOS and 92 healthy neonates were enrolled in the study. RESULTS: Platelet to lymphocyte ratio (PLR) values of the three groups were calculated 56.5 ± 17.8 vs. 62.4± 14.9 vs. 15.3 ± 2.1, respectively. PLR values of suspected or proven EOS group were significantly higher than the control group. PLR has AUC 0.89 to 0.93, the cutoff value of 39.5 to 57.7, the sensitivity of 88.9% to 91.3% and specificity of 94.7% to 97.6%, the positive predictive value of 94.3% to 97.4%, and negative predictive value of 88.6% to 91.8% in suspected and proven sepsis diagnosis. CONCLUSIONS: Our results suggest that PLR can be used as a parameter in the prediction of neonatal sepsis.

Spontaneous splenic rupture in a patient with congenital afibrinogenemia.

Afibrinogenemia is a rare bleeding disorder which is observed with an incidence of 1:1 000 000. It is an autosomal recessive disease and occurs as a result of mutation in one of the three genes which code the three polypeptide chains of fibrinogen. Basic clinical findings include spontaneous bleeding, bleeding after minor trauma or due to surgery. Splenic rupture in afibrinogenemia has been reported only in 6 cases so far. In this article, we present a 15-year old congenital afibrinogenemia patient with spontaneous splenic rupture.