Impact of birth weight to placental weight ratio and other perinatal risk factors on left ventricular dimensions in newborns: a prospective cohort analysis.

OBJECTIVES: To investigate the association between birth weight to placental weight (BW/PW) ratio, and echocardiographic left ventricle (LV) morphology at birth, while accounting for other relevant perinatal factors. METHODS: A prospective cohort study was conducted on neonates at NewYork-Presbyterian Brooklyn Methodist Hospital from 2014 to 2018, categorized by their BW/PW percentile. Missing data were imputed with principal component analysis. Chi-squared and one-way analysis of variance were used to compare BW/PW groups and the best regression model was selected using a genetic and backward stepwise algorithm. RESULTS: We analyzed 827 neonates in three BW/PW groups: small (n=16), normal (n=488), and large (n=323). Placental thickness and smallest diameter were positively correlated with several LV parameters, including inter-ventricular septal thickness during diastole (IVSd) (p=0.002, p<0.001) and systole (IVSs) (p=0.001, p<0.001), LV posterior wall thickness at end of diastole (LVPWd) (p=0.003, p<0.001) and systole (LVPWs) (p<0.001, p<0.001), LV mass (p=0.017, p<0.001), and LV mass/volume (p=0.011, p<0.001). The BW/PW ratio correlated with an increased shortening fraction (estimate=0.29, 95 % CI 0.03-0.55, p=0.027). PW correlated with IVSs (p=0.019), while the longest placental diameter was linked to a decrease in LV internal dimension during diastole (LVIDd) (estimate=-0.07, p=0.039), LV mass (estimate=-0.11, p=0.024), and LV mass/volume (estimate=-0.55, p=0.005). CONCLUSIONS: This study found that several placental factors, including the BW/PW ratio, can independently affect LV dimension and morphology, highlighting the importance of fetal growth and placental health in the physiological adaptation of the fetal heart. More research is needed to establish causation and inform newborn prevention strategies.

Perinatal factors impacting echocardiographic left ventricular measurement in small for gestational age infants: a prospective cohort study.

INTRODUCTION: Infants born small for gestational age (SGA) have an increased risk of developing various cardiovascular complications. While many influencing factors can be adjusted or adapt over time, congenital factors also have a significant role. This study, therefore, seeks to explore the effect of perinatal factors on the left ventricular (LV) parameters in SGA infants, as assessed immediately after birth. METHODS AND MATERIALS: This single-center prospective cohort study, conducted between 2014 and 2018, involved healthy SGA newborns born > 35 weeks' gestation, delivered at New York-Presbyterian Brooklyn Methodist Hospital, and a gestational age (GA)-matched control group of appropriate for gestational age (AGA) infants. Data analysis was performed using multivariate linear regression in STATA. RESULTS: The study enrolled 528 neonates, 114 SGA and 414 AGA. SGA infants exhibited a mean GA of 38.05 weeks (vs. 38.54), higher male representation (69.3% vs. 51.5%), lower birth weight (BW) (2318g vs 3381g), lower Apgar scores at birth, and a higher rate of neonatal intensive care unit admission compared to AGA infants (41.2% vs.18.9%; p<0.001). Furthermore, SGA infants were more likely to be born to nulliparous women (63.16% vs. 38.16%; p<0.001), with lower body mass index (BMI) (29.8 vs. 31.7; p=0.004), a lower prevalence of gestational maternal diabetes (GDM) (14.9 % vs. 35.5%; p<0.001), and a higher prevalence of preeclampsia (18.4 % vs. 6.52%; p<0.001). BW was identified as the most significant predictor affecting most LV parameters in this study (p<0.001), except shortening fraction, asymmetric interventricular septal hypertrophy and Inter-ventricular septal thickness/LV posterior wall ratio (IVS/LVPW). Lower GA (coefficient = -0.09, p=0.002), insulin use in GDM (coefficient = 0.39, p=0.014), and low APGAR scores at 1 minute (coefficient = -0.07, p<0.001) were significant predictors of IVS during diastole (R-squared [R2]=0.24). High maternal BMI is marginally associated with LVPW during systole (R2=0.27, coefficient = 0.01, p=0.050), while male sex was a significant predictor of LV internal dimension during diastole (R2=0.29, p=0.033). CONCLUSION: This study highlights the significant influence of perinatal factors on LV parameters in SGA infants, with BW being the most influential factor. Although LV morphology alone may not predict future cardiovascular risk in the SGA population, further research is needed to develop effective strategies for long-term cardiovascular health management in this population.

Mutation analysis of B3GALTL in Peters Plus syndrome.

Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660 + 1G > A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459 + 1G > A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters anomaly but lack other classic features of this complex condition.

Perinatal/Neonatal case presentation: pulmonary artery sling associated with respiratory distress.

Pulmonary artery sling is a very rare cause of pediatric respiratory distress. The estimated prevalence of the disease was first determined by Yu et al. in 2008 as 59 per million school-aged children. Associated symptoms are cough, wheezing, and feeding difficulty, all of which are common in routine outpatient pediatric clinical encounters. We report a case of a premature male neonate twin who was admitted to the neonatal intensive care unit with respiratory distress and pneumothorax. His presentation, as well as the etiology of his pulmonary disease, was felt to be consistent with those of numerous other premature infants. Akin to this was his delayed discharge on account of his slow progress with oral feeding. Parents gave a history of tachypnea and feeding difficulty to his doctors. He presented twice to the emergency room in respiratory distress. At 4 months of age, while in hospital for a pulmonary infection, he had an echocardiogram that revealed a pulmonary artery sling. We review the literature on this vascular anomaly, discuss its diagnosis and management, and critique the clinical thinking that determined this child's course from the perspective of availability heuristics.

A Case of Beare-Stevenson Syndrome with Unusual Manifestations.

BACKGROUND: Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes. CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, skin/mucosal tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes. Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene. CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.

Ontogeny and the effects of corticosteroid pretreatment on aquaporin water channels in the ovine cerebral cortex.

The aim of the present study was to determine the ontogeny and effects of corticosteroid pretreatment on aquaporin 4 (AQP4) channel mRNA and protein expression in the cerebral cortex of sheep during development. A portion of the cerebral cortex was snap-frozen from fetuses of dexamethasone- and placebo-treated ewes at 60%, 80% and 90% of gestation, dexamethasone- and placebo-treated newborn lambs and adult sheep. Cerebral cortical samples were obtained 18 h after the last of four 6 mg dexamethasone or placebo injections were given over 48 h to the ewes and adult sheep. Lambs were treated with 0.01 mg kg(-1) dexamethasone or placebo in the same schedule as the ewes and adult sheep. Amplification of an ovine AQP4 cDNA fragment was accomplished by reverse transcription-polymerase chain reaction using primers based on a homologous bovine sequence. The resulting cDNA was used to determine AQP4 channel mRNA expression by Northern hybridisation using phosphorimaging. The relative abundance of AQP4 mRNA was normalised to the ovine ribosomal gene L32. A portion of the frontal cortex was also analysed for AQP4 protein expression by Western immunoblot. Densitometry was performed and the results expressed as a ratio to an adult brain pool. Aquaporin 4 channel mRNA and protein were detectable as early as at 60% gestation. There were no changes in AQP4 mRNA expression among the fetal, newborn and adult groups or after dexamethasone pretreatment in any age group. The expression of the AQP4 protein was higher (P < 0.05) in fetuses at 80% and 90% of gestation (2.9- and 3.3-fold, respectively), in lambs (3.2-fold) and in adult sheep (3.8-fold) compared with fetuses at 60% of gestation, as well as in adult sheep (1.3-fold) compared with fetuses at 80% of gestation. Dexamethasone pretreatment resulted in decreases (P < 0.05) in AQP4 protein expression in the lambs and adult sheep, but not in the fetal groups. We conclude that: (1) AQP4 mRNA and protein were expressed early in fetal and throughout ovine development; (2) protein, but not mRNA, expression increased between 60% and 80% of gestation and did not differ from adult levels by 90% of gestation; and (3) dexamethasone pretreatment resulted in decreases in AQP4 protein expression in lambs and adult sheep, but not in fetuses. The maturational increases in AQP4 protein expression and dexamethasone-related decreases in expression were post-transcriptional, because changes in AQP4 mRNA expression were not observed.

Rheumatic fever in a 2-year-old child.

A 2-year-old boy with a history of presumed viral pharyngitis presented with rheumatic fever. The episode of pharyngitis was not treated with antibiotic at five years of age, physicians should be aware of the sequelae of untreated group A beta-hemolytic streptococcal pharyngitis.

Ranitidine and late-onset sepsis in the neonatal intensive care unit.

AIMS: The objective of the study was to examine the effect of ranitidine on the incidence of late onset sepsis. METHODS: This study was based on information extracted from charts of 569 infants admitted to the neonatal intensive care unit (NICU) from July 2003 to July 2005. All infants admitted for seven or more days were included. Late-onset neonatal sepsis was defined as a positive blood culture with clinical signs of sepsis after seven days of life. Outcome measures included the use of ranitidine, type of infection and infectious agent, birth weight gestational age, and type of care in the NICU. RESULTS: Of the 569 infants admitted, 53 (9.3%) were treated with ranitidine. Of 74 infants who developed late-onset sepsis, 23 infants received ranitidine and 51 did not. Infants receiving ranitidine were at 7-times greater risk of late-onset sepsis (OR 6.99; 95% CI: 3.78-12.94; P<0.0001). The birth weights and gestational ages of infants with sepsis receiving ranitidine and those not receiving ranitidine were comparable, P=0.59. CONCLUSION: The use of ranitidine in infants admitted to the NICU elevates the risk of late-onset sepsis. The pathological mechanisms need to be further studied. The safety of widespread use of ranitidine in neonates is controversial.