Congenital Diseases - Biotech, Pharma and Life Science Channel
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the heart, gut or skeletal system. They can be corrected by surgery, medications or are carried through life.
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PubMed Articles
Novel use of Coblation technology in an unusual congenital tracheal stenosis.
Background: We report the case of an unusual late presentation of congenital tracheal stenosis in a 13-year-old boy. He was treated with minimally invasive Coblation resection of the stenotic segment,...
Use of global assays to understand clinical phenotype in congenital factor VII deficiency.
Congenital factor VII (FVII) deficiency is characterized by genotypic variability and phenotypic heterogeneity. Traditional screening and factor assays are unable to reliably predict clinical bleeding...
Coronary Sinus Obstruction after Atrioventricular Canal Defect Repair.
The coronary sinus can become obstructed with any instrumentation at or near the ostium such as in atrioventricular canal defect repairs. This complication may lead to a wide range of consequences inc...
Aortic Dissection in Hospitalized Children and Young Adults: A Multiinstitutional Study.
OBJECTIVE.: To describe the incidence, characteristics, and outcomes of hospitalized children and young adults with aortic dissection (AD). DESIGN.: Retrospective review. SETTING.: The Pediatric Healt...
Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family.
INTRODUCTION. Chorea due to a mutation in the TITF1 gene, which is also known as benign hereditary chorea, is an autosomal dominant disorder that usually begins before the age of 5 years. In most case...
Neural tube defects (NTDs) are complex congenital malformations resulting from incomplete neurulation. Our previous work has demonstrated that motor and sensory neurons develop defectively in rat embr...
Three-dimensional echocardiography (3DE), a novel approach employed in detecting congenital heart disease (CHD), has gained popularity since it was made commercially available in 2002. This modality i...
To evaluate the feasibility of implementing a pulse oximetry screening protocol at a city of mild elevation with a specific focus on the false-positive screening rate. Pulse oximetry screening was per...
The aim of this study was to provide data on various dimensions of the normal cochlea using three-dimensional reconstruction based on high-resolution micro-CT images. The petrous parts of 39 temporal...
Supernumerary kidneys- a rare anatomic variant.
Supernumerary kidneys are a rare congenital anomaly with fewer than 100 cases reported over the years. A fused supernumerary kidney is a still rarer entity. We present imaging findings in two cases of...
News Articles
Clues to Congenital Heart Disease
A large-scale genomic analysis found that non-inherited mutations in hundreds of genes together account for about 1 in 10 cases of severe congenital heart defects, the most common type of birth defect...
Allied Healthcare Group shares ride high on back of strong prospects for its CardioCel product
Allied Healthcare Group (ASX:AHZ) shares jumped over 12% today as the market continued to recognise the prospects for its CardioCel product for the treatment of congenital heart disease and value with...
Pulse Oximetry Screening for Newborns a Reality in North Carolina
Raleigh, NC (PRWEB) May 17, 2013 On May 8, 2013, Governor McCrory signed Senate Bill 98 into law which expands the newborn screening program to include screening for congenital heart disease utiliz...
Mutation Explains One Type of Blue-Baby Syndrome
Newswise - PHILADELPHIA - Total anomalous pulmonary venous connection (TAPVC), one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't conn...
A Step Closer To Understanding What Causes Congenital Heart Disease
Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de n...
Total anomalous pulmonary venous connection (TAPVC), one type of "blue baby" syndrome, is a potentially deadly congenital disorder that occurs when pulmonary veins don't connect normally to the left a...
Genome-Sequencing Diagnostics For Rare Diseases: A Cautionary Tale
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with su...
Researchers Find 10% of Heart Disease Due to Spontaneous Mutations
Yale News | Yale researchers scanned the genomes of 1800 individuals and found that 10% of congenital heart disease is due to de novo mutations, not found in affected newborn's parents.
Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections
Abnormalities in how pulmonary veins connect to the heart underlie a type of congenital heart disease. Jonathan Epstein and his colleagues show that this condition, termed anomalous pulmonary venous c...
Events
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Companies
AGTC is focused on the research and development of novel therapeutics for patients with unmet medical needs utilizing AGTCâs proprietary, non-pathogenic adeno-associat...
Texas Childrenâs Heart Center is a self-contained pediatric heart treatment facility within Texas Children's Hospital. Its unique design provides a single point of care inclu...
Founded in 1969, Childrenâs HeartLink is a nonprofit organization partnering with health care centers in underserved regions of the world to promote sustainable cardiac care...
Clinical Trials
This trial is conducted globally. The aim of the trial is to investigate safety, efficacy and pharmacokinetics (the exposure of the trial drug in the body) of NNC 0129-0000-1003 (N8-GP) in...
Heart Failure in Adult Patients With a History of Congenital Heart Disease
In today's world of advanced surgery, children born with congenital heart disease (CHD) are surviving into adulthood. However, the surgical procedures these children undergo do not cure th...
Pilot Study of Mycophenolate Mofetil in Congenital Uropathies
Congenital or hereditary structural anomalies of the genitourinary tract account for approximately half of all cases of end stage renal disease in the pediatric population. Despite optimal...
Thrombin Generation in Neonates
Children having open heart surgery must be on a heart-lung bypass machine. It is essential that the blood in the heart-lung machine does not clot. This is accomplished by giving a drug cal...
Effects of Pioglitazone in Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, an autosomal recessive condition, is mainly caused by mutations in the gene 21-hydroxylase and is treated with glucocorticoids in a slightly supraphysiologi...
Stereo Photogrammetry Imaging in Normal Volunteers and Patients With Head and Facial Malformations
This study will use stereo photogrammetry to: 1) characterize facial features of genetic and congenital malformations; 2) define facial features associated with normal growth and developme...
Event Related Potentials in Infants and Adults
This study will explore the development of visual perception and the brain activity that underlies it. It will examine electrical activity in the brain while people are processing characte...
Improving the Results of Bone Marrow Transplantation for Patients With Severe Congenital Anemias
People with severe congenital anemias, such as sickle cell anemia, thalassemia, and Diamond Blackfan anemia, have been cured with bone marrow transplantation (BMT). The procedure, however...
Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders
The congenital absence of teeth, commonly referred to as hypodontia or tooth agenesis, is a common developmental anomaly of human dentition that affects approximately 20% of the population...
OBJECTIVES: I. Determine the pharmacokinetics of exogenous liothyronine administered in children undergoing the modified Fontan procedure. II. Determine the liothyronine supplementation...
Videos
Fibular Hemimelia and Congenital Femoral Deficiency
www.lifebridgehealth.org/icll Fibular Hemimelia and Congenital Femoral Deficiency are two types of conditions that affect the lower limbs. Simply put, it is ...
Medical and Biotech [MESH] Definitions
Lower Extremity Deformities, Congenital
Congenital structural abnormalities of the LOWER EXTREMITY.
Upper Extremity Deformities, Congenital
Congenital structural abnormalities of the UPPER EXTREMITY.
Lymphatic Abnormalities
Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
Reticulocytosis
An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA.
Adrenogenital Syndrome
Abnormal SEX DIFFERENTIATION caused by disorders of the GONADS or the ADRENAL GLANDS, such as CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.
