About 112,712 results

Lessons From Continuous Glucose Monitoring in Youth With Pre–Type 1 Diabetes, Obesity, and Cystic Fibrosis

Glucose abnormalities exist in the prediabetic state well before a diagnosis of diabetes is made, and continuous glucose monitoring (CGM) is a sensitive method to detect these early abnormalities. Although insufficient data exist to support CGM for diagnosing diabetes, glucose patterns on CGM can provide insight into disease pathophysiology. Our group has used CGM to study early dysglyce...

KALYDECO® (ivacaftor) - For Healthcare Professionals

Helpful information for your patients. Get product information intended for healthcare professionals. Resources. About KALYDECO. Studies and Data.

VILTEPSO® (viltolarsen) - For Healthcare Professionals

VILTEPSO is a treatment for Duchenne muscular dystrophy (DMD) in patients amenable to exon 53 skipping. Learn more about the clinical benefits.

Practice Advisory: Cell-free DNA to Screen for Single-Gene Disorders

Feb 20th, 2019 - The continued innovation in cell-free technology combined with the desire for a maternal blood test to predict the risk for fetal genetic disorders during a pregnancy has broadened the application of cell-free DNA screening beyond aneuploidy to single-gene disorders. Examples of single-gene disorders include various skeletal dysplasias, sickle cell disease and cystic fibrosis. Although this tec...

A phase 1/2 ascending dose study and open-label extension study of voxelotor in patients with sickle cell disease
Howard,J,et al

Jan 16th, 2019 - New treatments directly targeting polymerization of sickle hemoglobin (HbS), the proximate event in the pathophysiology of sickle cell disease (SCD), are needed to address the severe morbidity and early mortality associated with the disease. Voxelotor (GBT440) is a first-in-class, oral therapy specifically developed to treat SCD by modulating the affinity of hemoglobin for oxygen, thus inhibiti...

Maternal Smoking Before and During Pregnancy and the Risk of Sudden Unexpected Infant Death
Pediatrics Anderson,T.,et al

Mar 10th, 2019 - OBJECTIVES: Maternal smoking during pregnancy is an established risk factor for sudden unexpected infant death (SUID). Here, we aim to investigate the effects of maternal prepregnancy smoking, reduction during pregnancy, and smoking during pregnancy on SUID rates. METHODS: We analyzed the Centers for Disease Control and Prevention Birth Cohort Linked Birth/Infant Death Data Set (2007–2011: 20 ...

Home Oxygen Therapy for Children. An Official American Thoracic Society Clinical Practice Guideline
Hayes,D.,et al

Jan 31st, 2019 - Although home oxygen therapy is commonly required in the care of children, there is a striking lack of empirical evidence regarding implementation, monitoring, and discontinuation of supplemental oxygen therapy. The panel formulated and provided the rationale for clinical recommendations for home oxygen therapy based on scant empirical evidence, expert opinion, and clinical experience to aid cl...

Direct-to-consumer genetic testing

Apr 2nd, 2019 - Types of DTC genetic tests A broad range of genetic test types are offered DTC, including: Carrier testing for diseases such as cystic fibrosis and hemochromatosis Pharmacogenomic testing Testing for predisposition to complex diseases such as hereditary cancers, cardiovascular disease and depression Whole exome or genome sequencing Testing to determine ancestry

Guidelines Insights: Hepatobiliary Cancers, Version 2.2019
Benson,A.,et al

Mar 31st, 2019 - Incidence and mortality rates for cancer overall are declining, but both incidence and mortality rates for hepatocellular carcinoma (HCC) are increasing.1,2 Risk factors for development of HCC include infection with hepatitis B virus (HBV) and/or hepatitis C virus (HCV), and cirrhosis of the liver (eg, alcohol cirrhosis).3 Metabolic disorders (ie, obesity, diabetes, impaired glucose metabolism,...

ENDARI (L-glutamine oral powder)

Now available for treatment of sickle cell disease in pediatric patients 5 years and older and the first in nearly 20 years for adults.

Three Leading National Public Health Organizations Ring The Alarm About All-time Highs Of STDs

Oct 7th, 2019 - Data released this week by the Centers for Disease Control and Prevention (CDC) show STDs have surged for the fifth consecutive year, reaching an all-time high in the U.S. These dangerous trends in chlamydia, gonorrhea, and syphilis show no sign of slowing and affect millions of lives each year in the United States. Particularly worrisome is the emerging trend of newborn syphilis (congenital sy...

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries
The American Journal of Gastroenterology; Kwo,P.,et al

Jun 30th, 2017 - Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with al...

Antidepressant use in pregnancy and the risk of cardiac defects.
The New England Journal of Medicine; Huybrechts KF, Palmsten K et. al.

Jun 18th, 2014 - Whether the use of selective serotonin-reuptake inhibitors (SSRIs) and other antidepressants during pregnancy is associated with an increased risk of congenital cardiac defects is uncertain. In particular, there are concerns about a possible association between paroxetine use and right ventricular outflow tract obstruction and between sertraline use and ventricular septal defects. We performed ...

Sleep environment risks for younger and older infants.
Pediatrics Colvin JD, Collie-Akers V et. al.

Jul 15th, 2014 - Sudden infant death syndrome and other sleep-related causes of infant mortality have several known risk factors. Less is known about the association of those risk factors at different times during infancy. Our objective was to determine any associations between risk factors for sleep-related deaths at different ages. A cross-sectional study of sleep-related infant deaths from 24 states during 2...

School-age outcomes of very preterm infants after antenatal treatment with magnesium su...
JAMA Doyle LW, Anderson PJ et. al.

Sep 16th, 2014 - Antenatal magnesium sulfate given to pregnant women at imminent risk of very preterm delivery reduces the risk of cerebral palsy in early childhood, although its effects into school age have not been reported from randomized trials. To determine the association between exposure to antenatal magnesium sulfate and neurological, cognitive, academic, and behavioral outcomes at school age. The ACTOM...

Antidepressants during pregnancy and autism in offspring: population based cohort study.
BMJ (Clinical Research Ed.); Rai D, Lee BK et. al.

Jul 20th, 2017 - Objectives To study the association between maternal use of antidepressants during pregnancy and autism spectrum disorder (ASD) in offspring.Design Observational prospective cohort study with regression methods, propensity score matching, sibling controls, and negative control comparison.Setting Stockholm County, Sweden.Participants 254 610 individuals aged 4-17, including 5378 with autism, liv...

Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infect...
MMWR. Morbidity and Mortality Weekly Report; Delaney A, Mai C et. al.

Jan 25th, 2018 - Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed dat...

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a mu...
Lancet (London, England); McDonald CM, Campbell C et. al.

Jul 21st, 2017 - Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of disease; therefore, mutation-specific therapies aimed at restoring dystrophin protein production are being explored. We aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation DMD. We did this multi...

Liver and combined lung and liver transplantation for cystic fibrosis: analysis of the ...
Pediatric Transplantation; Arnon R, Annunziato RA et. al.

Jan 11th, 2011 - A proportion of patients with CF develop cirrhosis and portal hypertension. LT and combined LLT are rarely performed in patients with CF. To determine the outcome of LT and LLT in patients with CF. Patients with CF who had LT or LLT between 10/1987 and 5/2008 were identified from UNOS database. A total of 182 children (<18 yr) and 48 adults underwent isolated LT for CF. Seven more children and ...

The incidence of visual impairment due to retinopathy of prematurity (ROP) and concomit...
The British Journal of Ophthalmology; van Sorge AJ, Termote JU et. al.

Feb 11th, 2011 - To determine the incidence of visual impairment (VI) caused by retinopathy of prematurity (ROP) and concomitant disabilities in preterm neonates born between 2000 and 2009 in the Netherlands. Data were retrieved from the Dutch institutes for the visually impaired. They were compared with similar Dutch studies conducted in 1975-1987, 1986-1994 and 1994-2000. Records of 42 infants with VI due to ...