Dysplasia is a term used in pathology to refer to an abnormality in maturation of cells within a tissue. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells.
KAIST medical scientists have developed an advanced method for perfectly detecting low-level somatic mutation in patients with intractable epilepsy. Their study showed that deep sequencing replicates of major focal epilepsy genes accurately and efficiently identified low-level somatic mutations in intractable epilepsy.
Bronchopulmonary dysplasia is the most common illness that develops in babies born premature with underdeveloped lungs.
A single test for women has been shown to aid in predicting which cases of precancerous cervical disease will become more serious, helping with decisions on whether or not surgery is needed, according to a study led by Queen Mary University of London.
Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare disease.
Researchers from the University at Buffalo have successfully used technology to wirelessly tweak the functioning of a gene FGFR1. This gene is vital in the growth of embryos into adults. Their experiments were successful in the lab grown brain tissues and shows potential in therapeutics.
Researchers suggest a possible cell-based therapy to stimulate lung development in fragile premature infants who suffer from a rare condition called Bronchopulmonary Dysplasia, which in the most severe cases can lead to lifelong breathing problems and even death.
Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment's cause and develop a potential and desperately needed nanoparticle-based treatment.
By analyzing medical records of 901 adults who had surgery for a certain type of precancerous pancreatic cyst, researchers at Johns Hopkins Medicine and The Karolinska Institute in Sweden have updated parameters for an anatomical “marker” that can tell more precisely if these cysts are likely to develop into lethal pancreatic cancers.
Recently, extraordinary progress has been made in our understanding of the mechanisms and molecular pathways underlying focal and sclerotic bone diseases, rare disorders which have a strong genetic component.
On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society's Annual Meeting for their abstract, entitled "Clinical Characterization and Trial of Growth Hormone in Patients with Aggrecan Deficiency: 6 Month Data," and presented this at the PES Presidential Poster Session.
An international team of researchers, led by the University of Granada (UGR) in Spain, has successfully isolated a bioactive compound present in cocoa bean extract that has proven effective in combatting skeletal diseases such as achondroplasia.
Preterm infants with respiratory distress syndrome (RDS) face heightened risks of death, critical illness, and prolonged hospitalization, particularly if they progress to develop acute respiratory distress syndrome.
After examining data gathered over an 11-year period in a first-of-its-kind provincial study, University of Toronto clinician-scientist Marco Magalhaes has one vital message: dentists in Ontario are detecting more cases of oral cancer and pre-cancer than ever before -- and it's saving lives.
Combining a wealth of information derived from previous studies with data from more than 500 patients, an international team led by researchers from Johns Hopkins has developed a computer-based set of rules that more accurately predicts when patients with a rare heart condition might benefit--or not--from lifesaving implanted defibrillators.
Drug therapy may effectively treat a potentially life-threatening condition associated with cirrhosis and other chronic liver diseases, according to a new study by Mayo Clinic researchers.
The presence of oral bacteria in so-called cystic pancreatic tumours is associated with the severity of the tumour, a study by researchers at Karolinska Institutet in Sweden published in the journal Gut reports. It is hoped that the results can help to improve diagnosis and treatment of pancreatic cancer.
Researchers at Karolinska Institutet in Sweden have discovered a new and rare skeletal disease. In a study published in the journal Nature Medicine they describe the molecular mechanism of the disease, in which small RNA molecules play a role that has never before been observed in a congenital human disease.
A research group headed by Professor Outi Mäkitie, Unviersity of Helsinki, identified in families with childhood-onset osteoporosis disease-causing mutations in a gene that had previously not been connected with the skeletal system or osteoporosis.
A new study indicates that both high-grade abnormal cellular changes (dysplasia) and esophageal adenocarcinoma (a form of cancer) have increased in the last 25 years among people with a digestive condition known as Barrett's esophagus.
The American Thoracic Society has developed a new clinical practice guideline for home oxygen therapy for children. The guideline appears in the Feb. 1 edition of the Society's American Journal of Respiratory and Critical Care Medicine.