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Approximately 30,000 people in the United States are living with Cystic Fibrosis (CF), according to the Cystic Fibrosis Foundation. CF occurs at increased frequency in Caucasians and individuals of Ashkenazi Jewish descent, but can occur in any ethnic group. It is a disorder of mucus production, primarily affecting the pulmonary, gastrointestinal and reproductive systems. Although there is some variability of clinical expression, most individuals with CF require lifelong medical care and experience reduced life expectancy. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out if they are carriers and at risk of having a baby with CF. It is standard of care to offer carrier screening for CF to Caucasian and Ashkenazi Jewish individuals and to inform couples of other ethnic backgrounds of CF testing. If both parents are found to be carriers, prenatal diagnosis by CVS or amniocentesis is available.
Study finds significant variation over diuretics use in BPD patients

Study finds significant variation over diuretics use in BPD patients

Even though there is little data to support the extended use of diuretic medications to help reduce fluid build-up in the lungs of premature infants, researchers at Nationwide Children's Hospital have found significant variation in how babies receive these medications at hospitals across the nation. [More]
Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome. [More]
Chronic obstructive pulmonary disease (COPD) inflammatory subtypes: an interview with Dr Vanessa McDonald, University of Newcastle, Australia

Chronic obstructive pulmonary disease (COPD) inflammatory subtypes: an interview with Dr Vanessa McDonald, University of Newcastle, Australia

COPD is defined as a preventable and treatable disease associated with significant extrapulmonary consequences that may contribute to severity. The pulmonary component of COPD is characterised by airflow limitation that is not fully reversible. The airflow limitation is usually progressive with an abnormal inflammatory response of the lungs to noxious particles (GOLD Strategy Document). Airflow obstruction in COPD is not highly variable and largely irreversible. [More]
Nearly 90% of young children continue to struggle with ADHD symptoms despite treatment

Nearly 90% of young children continue to struggle with ADHD symptoms despite treatment

A study published in the March 2013 issue of the Journal of the American Academy of Child and Adolescent Psychiatry found that 9 out of 10 young children with moderate to severe attention-deficit/hyperactivity disorder (ADHD) continue to experience serious to severe symptoms and impairment long after their original diagnoses, and in many cases, despite treatment. [More]
AAP, ACMG release guidelines on best practices for genetic testing and screening of children

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children. [More]
Stem cell line could also advance research into liver cancers, cystic fibrosis

Stem cell line could also advance research into liver cancers, cystic fibrosis

Chronic or acute, liver failure can be deadly. Toxins take over, the skin turns yellow and higher brain function slows. "There is no effective therapy at the moment to deal with the toxins that build up in your body," said Neil Talbot, a Research Animal Scientist for the USDA Agricultural Research Service. "Their only option now is to transplant a liver." [More]
GLP-1 pancreatitis concerns justified

GLP-1 pancreatitis concerns justified

Study results have raised further concerns over a link between pancreatitis and the use of glucagon-like peptide-1 (GLP-1)-based therapies for patients with Type 2 diabetes. [More]

Children's Oakland CF Center wins 2012 Quality Care Award from Cystic Fibrosis Foundation

Children's Hospital & Research Center Oakland's Cystic Fibrosis Center was recently awarded the Cystic Fibrosis Foundation's 2012 Quality Care Award. This prestigious award recognizes cystic fibrosis (CF) centers committed to improving the quality of patient care and providing better health outcomes for people with the life-threatening genetic disease. Children's Hospital Oakland was among 4 out of 22 centers in the country to receive the CF Foundation's award. [More]
Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera. [More]
New approach could make gene therapy dramatically more effective for HIV patients

New approach could make gene therapy dramatically more effective for HIV patients

A research team from Case Western Reserve University School of Medicine has discovered an approach that could make gene therapy dramatically more effective for patients. [More]

LASAG trial for severe influenza initiated

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Daily antibacterial baths can safely reduce risk of bloodstream infections in critically ill children

Daily antibacterial baths can safely reduce risk of bloodstream infections in critically ill children

Daily baths with an ordinary antibacterial cleanser can safely reduce the risk of dangerous bloodstream infections in critically ill children, according to a trial conducted in five pediatric hospitals and led by investigators at the Johns Hopkins Children's Center. [More]
Researchers to develop new diagnostic tools and treatments for people with rare diseases

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale. [More]
Normalizing p62 protein levels in immune system cells could reduce infection in CF patients

Normalizing p62 protein levels in immune system cells could reduce infection in CF patients

New research suggests that lowering excessive levels of a protein in immune system cells could be a strategy to clear an infection that is deadly to patients with cystic fibrosis (CF). [More]

Celtaxsys commences CTX-4430 Phase 1 study to treat pulmonary inflammation

Celtaxsys, Inc., a private biopharmaceutical company developing a new class of drugs to treat chronic inflammatory disorders, today announced the initiation of a first-in-human Phase 1 clinical study of CTX-4430, which blocks the pro-inflammatory enzyme Leukotriene A4 Hydrolase (LTA4H). [More]
Crofelemer receives FDA approval for treatment of HIV associated diarrhea

Crofelemer receives FDA approval for treatment of HIV associated diarrhea

Glenmark Pharmaceuticals Limited announced today that the US Food and Drug Administration has provided Marketing approval to its partner in US, Salix Pharmaceuticals Limited, for Crofelemer 125 mg delayed-release tablets for the symptomatic relief of non-infectious diarrhea in patients with human immunodeficiency virus (HIV)/ acquired immune deficiency syndrome (AIDS) on anti-retroviral therapy (ART). [More]

AAV-based gene therapy cocktail may help extend lives of children with Canavan disease

Results of a clinical trial that began in 2001 show that a gene therapy cocktail conveyed into the brain by a molecular special delivery vehicle may help extend the lives of children with Canavan disease, a rare and fatal neurodegenerative disorder. [More]
Patients with sickle cell disease rely more on emergency room

Patients with sickle cell disease rely more on emergency room

Patients with sickle cell disease rely more on the emergency room as they move from pediatric to adult health care, according to researchers at Washington University School of Medicine in St. Louis. [More]

Viewpoints: GOP attack on Medicare, Medicaid could hurt critical programs; Will says Obama is repeating his overreach on health care

Congressional Republicans are insisting that big cuts to Medicare and Medicaid be on the table in the negotiations over the so-called fiscal cliff and deficit reduction. That stance is largely a political move against two programs, which have been critical to the public welfare for the past half-century. [More]
CLCA1 molecule plays a special role in the mucus pathway

CLCA1 molecule plays a special role in the mucus pathway

Respiratory conditions that restrict breathing such as asthma and chronic obstructive pulmonary disease (COPD) are common killers worldwide. But no effective treatments exist to address the major cause of death in these conditions - excess mucus production. [More]