Publications by authors named "Christiana Farkouh-Karoleski"

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.

View Article and Find Full Text PDF

Objective: Pulmonary vein stenosis (PVS) is an emerging cause of pulmonary hypertension in preterm infants. It is an often lethal condition with poor long.term prognosis and high mortality.

View Article and Find Full Text PDF
Article Synopsis
  • * A study found important genetic variants in the LONP1 and ALYREF genes, with LONP1 showing a significant role in CDH risk through both new and rare inherited mutations.
  • * Research on mice lacking Lonp1 revealed severe lung issues, supporting the gene's critical role in lung development and the associated high mortality in CDH cases.
View Article and Find Full Text PDF

Unlabelled: Neonatal follow-up (NFU) clinics play an essential role in the multidisciplinary care of preterm patients. Despite the inherent value of NFU clinics, many clinical programs report poor compliance with follow-up visits. Preterm infants followed with difficulty in the long-term have higher rates of disability and lower IQ scores, even after adjustment of significant perinatal and sociodemographic variables.

View Article and Find Full Text PDF

Purpose: Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes.

Methods: We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo variants.

View Article and Find Full Text PDF

Background: Congenital diaphragmatic hernia (CDH) occurs in 1 out of 2500-3000 live births. Right-sided CDHs (R-CDHs) comprise 25% of all CDH cases, and data are conflicting on outcomes of these patients. The aim of our study was to compare outcomes in patients with right versus left CDH (L-CDH).

View Article and Find Full Text PDF

Background: Infants with congenital diaphragmatic hernia (CDH) are at risk for growth failure because of inadequate caloric intake and high catabolic stress. There is limited data on resting energy expenditure (REE) in infants with CDH.

Aims: To assess REE via indirect calorimetry (IC) in term infants with CDH who are no longer on respiratory support and nearing hospital discharge with advancing post-conceptional age and to assess measured-to-predicted REE using predictive equations.

View Article and Find Full Text PDF

Background: Simulation training is an effective method to teach neonatal resuscitation (NR), yet many pediatrics residents do not feel comfortable with NR. Rapid cycle deliberate practice (RCDP) allows the facilitator to provide debriefing throughout the session. In RCDP, participants work through the scenario multiple times, eventually reaching more complex tasks once basic elements have been mastered.

View Article and Find Full Text PDF

Objective How Latino parents perceive and understand antenatal counseling for extreme prematurity, < 26 weeks of gestational age (GA), is not clear. We aim to characterize Latino parental perceptions of antenatal counseling in order to construct and validate a Spanish decision-aid (SDA) to improve parental knowledge of prematurity after antenatal consults. Methods This is a three-phased, prospective, multicenter study.

View Article and Find Full Text PDF

Ventilation practices have changed significantly since the initial reports in the mid 1980 of successful use of permissive hypercapnia and spontaneous ventilation [often called gentle ventilation (GV)] in infants with congenital diaphragmatic hernia (CDH). However, there has been little standardization of these practices or of the physiologic limits that define GV. We sought to ascertain among Diaphragmatic Hernia Research and Exploration; Advancing Molecular Science (DHREAMS) centers' GV practices in the neonatal management of CDH.

View Article and Find Full Text PDF

Objectives: Congenital diaphragmatic hernia (CDH) survivors often have gastrointestinal disorders, and limited outcome data exist. This study reviewed risk factors for low weight and use of feeding tubes after CDH repair at 1 year of age. The hypothesis was that patients who required extracorporeal membrane oxygenation (ECMO) or with significant pulmonary arterial hypertension (PAH) would have lower weight percentiles and more often require tube feedings.

View Article and Find Full Text PDF

Objectives: While acquired pulmonary vein stenosis (PVS) is an often lethal anomaly with poor long-term prognosis and high mortality, little is known about the causes of this disease process. The purpose of this study was to describe the possible association between acquired PVS and necrotising enterocolitis (NEC) in premature infants.

Study Design: We performed a retrospective review of all premature infants (<37 weeks' gestation) diagnosed with acquired PVS in our institution.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_session6r8vhfsrtcbrspa61082nl33fjjsr7lc): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

File: /var/www/html/index.php
Line: 316
Function: require_once