Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023. We included children under 3 months of age who had a genetic confirmation of PCD, as evidenced by the presence of two pathogenic variants in recognized genes. Genetic testing targeted regional genetic variants in previously identified PCD genes. Eight patients were included. The median age at diagnosis was 12.5 days. Three (38%) were born prematurely < 34 weeks gestational age. All patients were presented with respiratory distress and hypoxemia after birth. The median duration of oxygen support was 23 days, and upper lobe atelectasis was present in five patients (63%). Congenital cardiac malformation was present in four patients. Organ laterality defects were present in four patients. Genetic mutations identified were in the DNAAF5, DNAL1, DNAAF3, and DNAH1 genes.     Conclusion: Neonatal diagnosis of PCD is uncommon, especially in atypical presentations such as children without laterality defects or preterms. Focusing on a genetic diagnosis of the local tribal pathogenic variants promotes a potential cost-efficient test leading to earlier diagnosis. There is a need for a standardized protocol for earlier diagnosis of PCD in high-consanguinity areas. What is Known: • Primary ciliary dyskinesia (PCD) typically presents after birth in term neonates. • Diagnosing PCD during neonatal and infancy stages is challenging, particularly in children without laterality defects. What is New: • A novel genetic-based diagnostic approach was implemented on the neonatal population in a highly consanguine community, focusing on direct testing for regional genetic variants, leading to early and rapid diagnosis of PCD.

A neonate with metabolic acidosis: Intentional ethylene glycol poisoning.

We present a rare case of the intentional poisoning of a neonate. An 8-day old child presented to an academic pediatric emergency department (ED) with respiratory distress and decreased intake. In the ED the patient was stabilized, and workup uncovered an anion gap metabolic acidosis. Blood, urine, and CSF cultures were negative at 48 h and a metabolic screen revealed elevated glycine. Calcium oxalate crystals were later found in the urinalysis, raising concern for ethylene glycol poisoning. The patient's father admitted to mixing antifreeze with the child's formula. The workup of an ill or distressed neonate should be methodical, ruling out sepsis, inborn errors of metabolism, cardiac disease, trauma, and less common etiologies such as intestinal catastrophes, renal or hepatic disease, neurologic disease, drug withdrawal, non-accidental trauma, formula mixing errors, and poisoning.

Accuracy of predicting neonatal distress using a five-level classification of fetal heart rate monitoring.

AIM: To assess the accuracy of neonatal distress prediction using the five-level classification of fetal heart rate (FHR) and management protocol of the Japan Society of Obstetrics and Gynecology (JSOG). METHODS: A case-control study was conducted. Vertex singleton pregnant women who delivered after 37 weeks' gestation from 2013 to 2015 were enrolled. The participants were categorized into two groups; controls were levels 1-3 (n = 1184), whereas cases were levels 4-5 (n = 117) group. Neonatal distress was defined as Apgar score < 8 points at 5 min or umbilical cord artery pH < 7.1. RESULTS: There were 117 cases (9.0%). The frequency of the neonatal distress was observed in 1.3% controls and 6.8% cases (P < 0.01). Diagnostic accuracy of neonatal distress for cases showed a 6.8% positive-predictive value, 34.8% sensitivity, 91.5% specificity and 98.7% negative-predictive value. Among various obstetrical conditions, high sensitivity (100%) for prediction of neonatal distress was observed in women with chromosome abnormalities, placental abruption, umbilical cord abnormalities and excessive labor pain. Conversely, relatively low specificity (<50%) was observed in cases with oligohydramnios and excessive labor pain. CONCLUSION: The five-level classification scheme was efficient for neonatal distress prediction. However, depending on the obstetric condition, the FHR findings and neonatal condition might be independent.

Bile Acids Pneumonia: A Respiratory Distress Syndrome in Early-Term Neonates.

Intrahepatic cholestasis of pregnancy (ICP) complicates among 0.2-2% of pregnancies and has been associated with adverse perinatal outcomes, including sudden stillbirth, meconium strained fluid, preterm birth, perinatal asphyxia, and transient tachypnea of the newborn. The diagnosis of "bile acids pneumonia" was previously proposed and a causative role of bile acids (BA) was supposed with a possible mechanism of action including surfactant dysfunction, inflammation, and chemical pneumonia. In the last few years, the role of lung ultrasound (LUS) in the diagnosis and management of neonatal respiratory distress syndrome has grown, and LUS scores have been introduced in the literature, as an effective predictor of the need for surfactant treatment among neonates with respiratory distress syndrome. We present four cases of infants born from pregnancies complicated by ICP, who developed respiratory distress syndrome early after birth. Lung ultrasound showed the same pattern for all infants, corresponding to a homogeneous alveolar-interstitial syndrome characterized by a diffuse coalescing B-line pattern (white lung). All infants evaluated require non-invasive respiratory support and in three cases surfactant administration, despite the near-term gestational age, with rapid improvement of respiratory disease and a good clinical outcome.

Rapid biophysical analyses of gastric aspirates from risk newborns for lung maturity assessment after corticosteroid therapy.

BACKGROUND: One of the main causes for the higher mortality among risk newborn children (including preterm infants) is neonatal respiratory distress syndrome (NRDS), which develops as a result of primary deficiency or secondary inactivation of alveolar surfactant (AS). Therefore, fast and early diagnostics of risk newborns lung maturity is crucial for their prompt therapy. MATERIALS AND METHODS: Gastric aspirates (GA) were collected from 77 infants divided into three groups: a control of 38 healthy full-term infants; 16 prematurely newborns with NRDS, and 23 prematurely born infants after in vitro fertilization and corticosteroid therapy (CST). Surface parameters: equilibrium (γeq), maximal (γmax) and minimal (γmin) surface tension, and the shape of hysteresis curves of GA monolayers were measured by axisymmetric drop shape analysis (ADSA) of a pending drop. In addition, the morphology of GA monolayers was studied by Brewster angle microscopy (BAM). RESULTS: Our results showed that only γmin values were reliable and were significantly lower in full-term infants, as compared to the risk neonates. The results obtained were proved by the shape of hysteresis curves of GA surface active films. BAM images of GA monolayers from NRDS group showed impaired surface morphology due to the surfactant insufficiency, as compared to the control group. Corticosteroid therapy improved both GA surface characteristics and monolayer morphology. CONCLUSIONS: GAs analyses by ADSA and BAM are fast and informative approaches for lung maturity assessment. In addition, the corticosteroid therapy applied improved all GAs surface parameters due to AS maturation.

Neurobehavioral development prior to term-age of preterm infants and acute stressful events during neonatal hospitalization.

BACKGROUND: Neonatal Intensive Care Units (NICUs) protect preterm infants; otherwise, this is a stressful environment including painful stimuli. AIMS: To compare early neurobehavioral development prior to term-age in preterm infants at 34-36weeks of post-conceptional age in different gestational ages, and to examine the effects of prematurity level and acute stressful events during NICU hospitalization on neurobehavioral development. STUDY DESIGN: Cross-sectional design. SUBJECTS: Forth-five preterm infants, 34-36weeks of post-conceptional age, were distributed into groups: extreme preterm (EPT; 23-28weeks of gestational age; n=10), moderate preterm (MPT; 29-32weeks of gestational age; n=10), late preterm (LPT; 34-36weeks of gestational age; n=25). OUTCOME MEASURES: All of the neonates were evaluated using the Neurobehavioral Assessment of Preterm Infant (NAPI) prior to 37weeks of post-conceptional age. The Neonatal Infant Stressor Scale (NISS) was applied for EPT and MPT infants during NICU hospitalization, and medical charts were analyzed. RESULTS: The EPT group experienced significantly more acute stressful events during NICU hospitalization than the MPT group. The MPT group had lower scores in motor development and vigor than the EPT and LPT group, and they exhibited poorer quality crying than the LPT group. Motor development and vigor and alertness and orientation in preterm infants were predicted by prematurity level and acute stressful events. CONCLUSION: The extreme preterm was exposed to higher stressful experiences than moderate and late preterm infants. However, the moderate preterm infants presented more vulnerable than the other counterparts in motor and vigor outcomes.