Group B Streptococcus Brain Abscess in a Neonate with Bilateral Otorrhea.

Introduction Group B streptococcus (GBS) is the leading cause of bacterial sepsis and meningitis in neonates worldwide, but brain abscess secondary to GBS is extremely rare. While temporal brain abscesses have been described as a sequelae of otogenic infections in children and adults, such a presentation has not been described in neonates. Case Description An 8-day-old female infant presented with a fever and irritability along with bilateral purulent otorrhea. Maternal GBS screening was negative, but the delivery was complicated by chorioamnionitis. Workup revealed neutrophilic pleocytosis in the cerebrospinal fluid and culture of the ear drainage was positive for GBS. Magnetic resonance imaging showed a circular lesion with rim enhancement within the left temporal lobe concerning for an abscess. The infant was treated with 14 days of intravenous vancomycin, cefepime, and metronidazole followed by 10 weeks of intravenous ampicillin. The hospital course was complicated by seizures and obstructive hydrocephalus requiring multiple neurosurgical interventions. Conclusion Brain abscess can occur as a sequela of GBS meningitis in neonates, but they are rare. Otogenic infections require prompt evaluation and treatment as they can progress to serious central nervous infections in neonates.

Bridging the Gap: Exploring Bronchopulmonary Dysplasia through the Lens of Biomedical Informatics.

Bronchopulmonary dysplasia (BPD), a chronic lung disease predominantly affecting premature infants, poses substantial clinical challenges. This review delves into the promise of biomedical informatics (BMI) in reshaping BPD research and care. We commence by highlighting the escalating prevalence and healthcare impact of BPD, emphasizing the necessity for innovative strategies to comprehend its intricate nature. To this end, we introduce BMI as a potent toolset adept at managing and analyzing extensive, diverse biomedical data. The challenges intrinsic to BPD research are addressed, underscoring the inadequacies of conventional approaches and the compelling need for data-driven solutions. We subsequently explore how BMI can revolutionize BPD research, encompassing genomics and personalized medicine to reveal potential biomarkers and individualized treatment strategies. Predictive analytics emerges as a pivotal facet of BMI, enabling early diagnosis and risk assessment for timely interventions. Moreover, we examine how mobile health technologies facilitate real-time monitoring and enhance patient engagement, ultimately refining BPD management. Ethical and legal considerations surrounding BMI implementation in BPD research are discussed, accentuating issues of privacy, data security, and informed consent. In summation, this review highlights BMI's transformative potential in advancing BPD research, addressing challenges, and opening avenues for personalized medicine and predictive analytics.

Leveraging transcriptomics to develop bronchopulmonary dysplasia endotypes: a concept paper.

IMPACT: Bronchopulmonary dysplasia has multiple definitions that are currently based on phenotypic characteristics. Using an unsupervised machine learning approach, we created BPD subclasses (e.g., endotypes) by clustering whole microarray data. T helper 17 cell differentiation was the most significant pathway differentiating the BPD endotypes. INTRODUCTION: Bronchopulmonary dysplasia (BPD) is the most common complication of extreme prematurity. Discovery of BPD endotypes in an unbiased format, derived from the peripheral blood transcriptome, may uncover patterns underpinning this complex lung disease. METHODS: An unsupervised agglomerative hierarchical clustering approach applied to genome-wide expression of profiling from 62 children at day of life five was used to identify BPD endotypes. To identify which genes were differentially expressed across the BPD endotypes, we formulated a linear model based on least-squares minimization with empirical Bayes statistics. RESULTS: Four BPD endotypes (A, B,C,D) were identified using 7,319 differentially expressed genes. Across BPD endotypes, 5,850 genes had a p value < 0.05 after multiple comparison testing. Endotype A consisted of neonates with a higher gestational age and birthweight. Endotypes B-D included neonates between 25 and 26 weeks and a birthweight range of 640 to 940 g. Endotype D appeared to have a protective role against BPD compared to Endotypes B and C (36% vs. 62% vs. 60%, respectively). The most significant pathway focused on T helper 17 cell differentiation. CONCLUSION: Bioinformatic analyses can help identify BPD endotypes that associate with clinical definitions of BPD.

A bioinformatics approach towards bronchopulmonary dysplasia.

Background and Objective: Bronchopulmonary dysplasia (BPD) is the most common morbidity associated with prematurity and remains a significant clinical challenge. Bioinformatic approaches, such as genomics, transcriptomics, and proteomics, have emerged as novel methods for studying the underlying mechanisms driving BPD pathogenesis. These methods can be used alongside clinical data to develop a better understanding of BPD and potentially identify the most at risk neonates within the first few weeks of neonatal life. The objective of this review is to provide an overview of the current state-of-the-art in bioinformatics for BPD research. Methods: We conducted a literature review of bioinformatics approaches for BPD using PubMed. The following keywords were used: "biomedical informatics", "bioinformatics", "bronchopulmonary dysplasia", and "omics". Key Content and Findings: This review highlighted the importance of omic-approaches to better understand BPD and potential avenues for future research. We described the use of machine learning (ML) and the need for systems biology methods for integrating large-scale data from multiple tissues. We summarized a handful of studies that utilized bioinformatics for BPD in order to better provide a view of where things currently stand, identify areas of ongoing research, and concluded with challenges that remain in the field. Conclusions: Bioinformatics has the potential to enable a more comprehensive understanding of BPD pathogenesis, facilitating a personalized and precise approach to neonatal care. As we continue to push the boundaries of biomedical research, biomedical informatics (BMI) will undoubtedly play a key role in unraveling new frontiers in disease understanding, prevention, and treatment.

Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate.

Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm-2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions revealed the diagnosis of disseminated JXG with notable atypical features. Somatic mutation analysis showed a novel MYH9-FLT3 fusion, but a bone marrow biopsy was negative. The lesions faded over time, relative to patient's growth and normal neurodevelopment was noted at 18 months of age. JXG should be considered in the differentials of blueberry muffin rash in an infant. Although, JXG is mostly a self-limited condition, congenital disseminated JXG may be associated with significant morbidity and mortality.

Trauma-Informed Care in the Neonatal Intensive Care Unit: Through the Lens of the COVID-19 Pandemic.

Trauma is rooted in an individual's experience of an event that leads to physical or mental harm and can have a long-lasting, unfavorable effect on their well-being and functioning. Being aware of the effects of trauma, recognizing its signs, understanding how it informs individual responses, and actively trying to prevent re-traumatization are the tenets of trauma-informed care. Admission to the neonatal intensive care unit (NICU) is widely considered to be an extremely stressful time for parents and infants alike. With the emergence of the coronavirus disease 2019 (COVID-19) pandemic, there were significant changes in healthcare delivery. Widespread closures, restrictions due to infection control measures, the spread of misinformation, increased psychosocial hardships, and amplification of cultural, gender, and racial biases intensified NICU-related stressors. Adoption of the principles of trauma-informed care, as defined by the Substance Abuse Mental Health Services Administration, to the NICU can help buffer some of these stressors. We present a review of these principles viewed through the lens of the COVID-19 pandemic. The lessons learned will help inform practices and policies and allow us to navigate similar challenges more effectively in the future.

Impact of Intrauterine Growth Restriction and Placental Insufficiency on Nutritional Outcomes of Extremely Low Birth Weight Infants.

Introduction The aim of our study was to assess the impact of intrauterine growth restriction (IUGR) and placental insufficiency (PI) on the nutritional outcomes of extremely low birth weight (ELBW) infants. Methods We conducted a six-year retrospective case-control study that included 117 ELBW infants. Of these, 58 infants had IUGR and 59 were born appropriate-for-gestational age (AGA). Infants with IUGR were further divided based on the presence or absence of PI, as determined by umbilical arterial doppler velocimetry on serial ultrasounds. Results IUGR infants with PI had the lowest enteral calorie intake at 28 days of life (DOL) (median intake- IUGR+PI: 32 vs IUGR-PI: 93 vs AGA: 110 kcal/kg/day; p-value 0.011) and at 36 weeks corrected gestational age (CGA) (median intake- IUGR+PI: 102 vs IUGR-PI: 125 vs AGA: 119 kcal/kg/day; p-value 0.012). These infants also trended towards requiring a longer duration of total parenteral nutrition (TPN) (median duration - IUGR+PI: 35 vs IUGR-PI: 25 vs AGA: 21 days; p-value 0.054) and higher incidence of conjugated hyperbilirubinemia (IUGR+PI: 43% IUGR-PI: 29% vs AGA: 16%; p-value 0.058), but these results did not reach statistical significance. Despite challenges with enteral nutrition, IUGR infants with PI showed good catch-up growth and had higher growth velocities over the first month of life, compared to AGA controls. Conclusion IUGR in the presence of PI is associated with significantly poorer enteral nutritional outcomes in ELBW infants. However, with the support of optimal parenteral nutrition these infants showed good catch-up growth.

Leigh's disease, a fatal finding in the common world: A case report.

Leigh syndrome is a neurodegenerative mitochondrial disorder of childhood characterized by symmetrical spongiform lesions in the brain. The clinical presentation of Leigh's syndrome can vary significantly. However, in the majority of cases, it usually presents as a progressive neurological disease involving motor and cognitive development. It is common to see signs and symptoms of the midbrain and brainstem involvement. Limited data are present on the brain processes occurring in Leigh's syndrome which can be attributed to fatal respiratory failure. Raised lactate levels in the blood and/or cerebrospinal fluid are noted. Magnetic resonance imaging (MRI) findings such as necrotic, symmetrical lesions in the BG/brain stem are helpful in arriving at the diagnosis of Leigh's syndrome. It's of utmost importance to determine whether fatal respiratory failure can be predicted based on clinical characteristics and findings on MRI. In our report, we presented 3 cases from rural India, including a 2-year-old male child presenting with UMN lesion signs, a 3-month-old female infant with delayed developmental milestones with lab results suggestive of Leigh's disease, and a 12-year-old female child with epistaxis and generalized weakness. As discussed above, all 3 cases presented differently with a variety of signs and symptoms and would have gone undiagnosed without the use of brain imaging. The study concluded with the impression that while MRI is essential to the initial diagnosis of Leigh's disease, MRI alone cannot be used to predict fatal respiratory failure in patients with Leigh's disease. In any dilemma regarding diagnosis even with MRI, molecular studies remain the gold standard.

Comparison of Airway Pressure Release Ventilation to High-Frequency Oscillatory Ventilation in Neonates with Refractory Respiratory Failure.

Background: Airway pressure release ventilation (APRV) is a relatively new mode of ventilation in neonates. We hypothesize that APRV is an effective rescue mode in infants failing conventional ventilation and it is comparable in survival rates to rescue with high-frequency oscillatory ventilation (HFOV). Methods: This is a 6-year retrospective cohort study of infants that failed synchronized intermittent mandatory ventilation (SIMV) and were rescued with either APRV or HFOV. For comparison, we divided infants into two groups (28-37 and >37 weeks) based on their corrected gestational age (CGA) at failure of SIMV. Results: Ninety infants were included in the study. Infants rescued with APRV (n = 46) had similar survival rates to those rescued with HFOV (n = 44)-28-37 weeks CGA (APRV 78% vs. HFOV 84%, p = 0.68) and >37 weeks CGA (APRV 76% vs. HFOV 72%, p = 0.74). Use of APRV was not associated with an increase in pneumothorax (APRV 0% and HFOV 10%, p = 0.31, in 28-37 weeks CGA, and APRV 0% and HFOV 4%, p = 0.22, in >37 weeks CGA). Conclusion: APRV can be effectively used to rescue infants with refractory respiratory failure on SIMV. When compared to HFOV, rescue with APRV is not associated with an increase in mortality or pneumothorax.

Magnetic Resonance Imaging Assessment of Pulmonary Vascularity in Infants with Congenital Diaphragmatic Hernia: A Novel Tool for Direct Assessment of Severity of Pulmonary Hypertension and Hypoplasia.

OBJECTIVES: To assess the feasibility of magnetic resonance imaging (MRI) for postnatal assessment of pulmonary vascularity in infants with congenital diaphragmatic hernia (CDH). STUDY DESIGN: Infants with prenatally diagnosed CDH (n = 24) received postnatal pulmonary MRI. Infants with nonpulmonary birth defects served as controls (n = 5). Semiautomatic segmentation was performed to obtain total vascular volume using time of flight images to assess vascularity. RESULTS: Average vascular density (vascular volume/lung volume) in control infants was 0.23 ± 0.06 mm3/mm3 compared with 0.18 ± 0.06 mm3/mm3 in infants with CDH is (P = .09). When stratified further based on CDH severity, the difference between control infants and moderate CDH group was statistically significant. (0.23 mm3/mm3 vs 0.15 mm3/mm3, P = .01). Ipsilateral vascular density on MRI in infants with CDH significantly correlated with the prenatal pulmonary hypertensive index (P = .0004, Spearman R = +0.87) and with number of days on mechanical ventilation (P = .04, Spearman R = -0.44), total days on inhaled nitric oxide (P = .02, Spearman R = -0.47), use of epoprostenol for acute pulmonary hypertension (PH) (0.14 mm3/mm3 vs 0.20 mm3/mm3, P = .005), and use of sildenafil for chronic PH (0.15 mm3/mm3 vs 0.19 mm3/mm3, P = .03). CONCLUSIONS: Our results suggest that postnatal pulmonary vascularity assessed by MRI strongly correlates with prenatal and postnatal markers of PH severity and that pulmonary vascularity may serve as a direct measure of pulmonary vascular hypoplasia in infants with CDH.

Diffuse Chorangiomatosis as a Cause of Cardiomegaly, Microangiopathic Hemolytic Anemia and Thrombocytopenia in a Newborn.

INTRODUCTION: The hallmark of diffuse chorangiomatosis is capillary dysvasculogenesis, diffusely involving the placenta. It can cause massive placental enlargement and may have adverse fetal effects. CASE REPORT: A 32 weeks gestation male infant was born via cesarean section and had a placenta weighing 900 g. There was diffuse vascular proliferation involving the stem villi and intermediate villi. Short Nucleotide Polymorphism (SNP) microarray analysis of the placenta showed no biparental mosaicism or loss of heterozygosity, ruling out placental mesenchymal dysplasia. The infant also had cardiomegaly, microangiopathic hemolytic anemia and thrombocytopenia which spontaneously improved over time. CONCLUSION: Diffuse chorangiomatosis can be associated with hemolysis, thrombocytopenia and cardiomegaly in the newborn. However, once delivered, these findings can spontaneously resolve over time.

Facial Asymmetry in a Crying Newborn: A Comparison of Two Cases and Review of Literature.

Facial asymmetry in a crying newborn can be due to a variety of different causes. Neonatal asymmetric crying facies (NACF) is a specific phenotype, which is often underrecognized. It is defined as asymmetry of the mouth and lips with grimacing or smiling, but a symmetric appearance at rest. NACF needs to be differentiated from complete facial palsy in a newborn, which can occur due to traumatic or developmental etiologies. Developmental causes can be present in isolation or may be a part of a recognized syndrome. While asymmetric lower lip depression may be seen in both conditions, complete facial palsy is also associated with upper and mid face deformities. We present a case of NACF and compare it to a case of facial palsy due to perinatal trauma. The purpose of this case series is to clarify some of the confusing nomenclatures and highlight the differences in the physical exam findings, diagnosis, and eventual prognosis of these cases.

Amniotic fluid: Source of trophic factors for the developing intestine.

The gastrointestinal tract (GIT) is a complex system, which changes in response to requirements of the body. GIT represents a barrier to the external environment. To achieve this, epithelial cells must renew rapidly. This renewal of epithelial cells starts in the fetal life under the influence of many GIT peptides by swallowing amniotic fluid (AF). Development and maturation of GIT is a very complex cascade that begins long before birth and continues during infancy and childhood by breast-feeding. Many factors like genetic preprogramming, local and systemic endocrine secretions and many trophic factors (TF) from swallowed AF contribute and modulate the development and growth of the GIT. GIT morphogenesis, differentiation and functional development depend on the activity of various TF in the AF. This manuscript will review the role of AF borne TF in the development of GIT.

Early Vitamin K Deficiency Bleeding in a Neonate Associated with Maternal Acute Fatty Liver of Pregnancy.

Introduction Acute fatty liver of pregnancy (AFLP) is a rare but potentially fatal condition occurring in the third trimester or early postpartum period. It is characterized by microvesicular fatty infiltration of the liver. Clinically, the three most prominent derangements in women with AFLP are hepatic dysfunction, renal insufficiency, and impaired coagulation. AFLP is associated with an increased incidence of morbidity and mortality in neonates, though the exact cause for this remains unclear. Deficiency of vitamin K in patients with liver disease has been widely reported. Case Description We present a unique case of severe intracranial bleeding because of the early vitamin K deficiency in a neonate whose mother had AFLP along with accompanying renal insufficiency. Conclusion We suggest that monitoring infants born to mothers with AFLP, for vitamin K deficiency bleeding will help reduce morbidity and mortality in these infants.