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Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Implementing A Hearing Screening Readiness Assessment Tool For Preterm And Term Neonates In The Newborn Intensive Care Unit: A Pilot Project, Mckenzie Blatt, Adrienne Johnson, Jennifer L. Hamilton, Carly Alston, Belinda Chan May 2023

Implementing A Hearing Screening Readiness Assessment Tool For Preterm And Term Neonates In The Newborn Intensive Care Unit: A Pilot Project, Mckenzie Blatt, Adrienne Johnson, Jennifer L. Hamilton, Carly Alston, Belinda Chan

Journal of Early Hearing Detection and Intervention

Newborn intensive care unit (NICU) patients are at risk for hearing loss. Early detection mitigates consequences of speech and language delay. The Joint Committee on Infant Hearing (JCIH) recommends hearing screening (HS) on all infants by 1 month of age. Often hearing screening is performed around the time of NICU discharge, often beyond JCIH recommendations. Automated auditory brainstem response (AABR) screening can be performed once an infant reaches 32 to 34 weeks corrected gestational age (GA). Our project aimed to reduce HS delay among NICU infants. We created and implemented a HS assessment tool defining gestational age and medical stability …


Clinical Utility Of Neutrophil To Lymphocyte Ratio In Sickle Cell Disease With Vaso-Occlusive Crisis, Satish Maharaj, Simone Chang Jan 2023

Clinical Utility Of Neutrophil To Lymphocyte Ratio In Sickle Cell Disease With Vaso-Occlusive Crisis, Satish Maharaj, Simone Chang

Hematology/Oncology and Stem Cell Therapy

Background and objectives: The neutrophil-to-lymphocyte ratio represents a universally accessible value that correlates with inflammation and prognosis in several disease states; however, the role of this biomarker in sickle cell disease remains poorly explored. Hence, the objective of the present study was to determine its potential clinical utility in patients with sickle cell disease.

Patients: Herein, we retrospectively reviewed 143 patients with sickle cell disease who presented to the emergency department with fever and painful vaso-occlusive crisis.

Results: The examined cohort had a prevalence of 11% confirmed bacterial infection, with approximately two-thirds reporting the use of hydroxyurea. The neutrophil-to-lymphocyte ratio …


The Association Of Rs187238, Rs19465518 And Rs1946519 Il-8 Polymorphisms With Acute Kidney Injury In Preterm Infants, Fiva Aprilia Kadi Nov 2021

The Association Of Rs187238, Rs19465518 And Rs1946519 Il-8 Polymorphisms With Acute Kidney Injury In Preterm Infants, Fiva Aprilia Kadi

BioMedicine

ABSTRACT

Background: Interleukin 18 (IL-18) promoter polymorphisms (-656G>T, -607C>A, and -137G>C) affect serum IL-18 (sIL-18) levels and are associated with renal injury.

Purpose: This study aimed to determine the diagnostic utility of sIL-18 and urine IL-18 (uIL-18) as biomarkers for acute kidney injury (AKI) and analyse the association of IL-18 polymorphisms to AKI in preterm infants.

Methods: Blood and urine samples were collected from 56 preterm infants with AKI and 56 without AKI to measure serum creatinine (SCr), sIL-18, and uIL-18. Genotyping of polymorphisms was performed and analysed, with AUC-ROCs analysis used to evaluate …


Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak Aug 2021

Classical Findings Of Infantile Hepatic Hemangiomas, Senayit Demie, Michael Bossak

HCA Healthcare Journal of Medicine

Introduction

Hemangiomas are benign vascular tumors that are common during infancy. They are most commonly noted as superficial bright red lesions on the skin but can also be found deeper as subcutaneous lesions. Patients with multifocal cutaneous hemangiomas are at risk of visceral involvement with the liver being most commonly affected. Most hemangiomas can be monitored clinically as they are self-limiting. Despite this, hepatic hemangiomas can have serious complications including large arteriovenous shunts leading to cardiac compromise as well as severe hepatomegaly which can cause abdominal compartment syndrome, impaired ventilation and renal vein compression.

Clinical Findings

A six-month-old female, born …


Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp Nov 2019

Is It Fair To Compare? A Patient And Family Experience Of Two Healthcare Systems And Neurosurgical Teams Within A Two-Week Period, Laura Miller Cpxp

Patient Experience Journal

As the mother of a 28-year-old son with cerebral palsy and hydrocephalus, and as a healthcare consultant focused on patient experience and professional development, I have a unique perspective and skill set. Recently he experienced symptoms that included an excruciating headache, neck pain and lethargy. Fearing his ventriculoperitoneal shunt had malfunctioned, he went to the emergency room and was later admitted on the neuro inpatient floor for a three-day hospitalization. His original shunt had been placed in 1991, and he never had an issue with until August 2018. While in the hospital, he was informed that he was no longer …


Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre Aug 2019

Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre

SMU Data Science Review

Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve …