Dysplasia News and Research

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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.

Advanced method to accurately detect low-level somatic mutation in intractable epilepsy

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.

16 Aug 2019

New therapy improves survival rate to 99% in preemies with chronic lung condition

Bronchopulmonary dysplasia is the most common illness that develops in babies born premature with underdeveloped lungs.

6 Aug 2019

Single test can predict progression of untreated precancerous cervical disease

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.

31 Jul 2019

Researchers reveal molecular cause for severe multi-organ disorder

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.

18 Jul 2019

Gene modulation goes wireless hacking the "boss gene"

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.

16 Jul 2019

Scientists suggest possible cell-based therapy for premature infants with rare lung condition

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.

27 Jun 2019

Scientists pinpoint cause of fatal respiratory disorder that turns babies' lips and skin blue

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.

19 Jun 2019

Early removal of some pancreatic cysts could decrease cancer risk, save lives

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.

From Johns Hopkins Medicine 15 May 2019

Reviews provide overview of advances in the knowledge of focal and sclerotic bone diseases

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.

13 May 2019

Researchers study the impact of and treatment for aggrecan deficiency

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.

8 May 2019

Bioactive compounds in cocoa bean extract could be used to develop new treatment for skeletal diseases

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.

7 May 2019

New noninvasive ventilation strategy benefits preterm infants with neonatal ARDS

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.

1 May 2019

Dentists detect more cases of oral cancer and pre-cancer than ever before

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.

30 Apr 2019

New computer program predicts risk of life-threatening arrhythmias

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.

28 Mar 2019

Mayo Clinic study identifies potential new drug therapy for liver diseases

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.

22 Mar 2019

Oral bacteria in pancreas associated with tumor severity

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.

14 Mar 2019

Researchers discover new and rare skeletal disease

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.

25 Feb 2019