In addition, POL6014 may show therapeutic benefit for a range of neutrophilic pulmonary diseases with high medical need such as non-cystic fibrosis bronchiectasis, alpha-1 antitrypsin deficiency or primary ciliary dyskinesia
Lucy Dixon was born with a rare disease, primary ciliary dyskinesia
, which means her organs are in mirror image and she catches infections regularly
Primary ciliary dyskinesia
(PCD) is a rare genetic disorder involving number of human organs like upper and lower respiratory tract, spermatozoa in male and fallopian tube in females.
Approximately one half of patients with primary ciliary dyskinesia
are having Kartagener syndrome.
There are at least 2 inherited disorders that are commonly associated with CRS with polyp formation: cystic fibrosis (CF) and primary ciliary dyskinesia
These successes were followed by Marfan syndrome and the Primary Ciliary Dyskinesia
Retained, thickened secretions in concert with ciliary dyskinesia
, obstructed ostia as well as the antigravitational placement of the ostia, especially of the maxillary antrum, perpetuate the disease process.
These include such conditions as polycystic kidney disease, retinitis pigmentosa in the eye, and rare inherited disorders such as Alstrom syndrome, Bardet-Biedl syndrome, primary ciliary dyskinesia
Congenital bronchiectasis can be exemplified by a condition known as Kartagener's syndrome, also known as primary ciliary dyskinesia
syndrome, in which the patient displays situs inversus, chronic sinusitis, and bronchiectasis.
If associated with primary ciliary dyskinesia
, sinusitis and bronchiectasis and infertility in males, it is called Kartagener Syndrome found in 25% of patients (3).
But how about propionic academia, cutaneous malignant melanoma, cri-du-chat syndrome and primary ciliary dyskinesia
Incidence of congenital heart defects is more (95%) with situs inversus incompletes 25% of individuals with situs inversus have primary ciliary dyskinesia
They address diseases like Marfan and Goodpasture's syndromes, sarcoidosis, autoimmune pulmonary alveolar proteinosis, hereditary haemorrhagic telangiectasia, Hermansky-Pudlak syndrome, primary ciliary dyskinesia
, cystic fibrosis, scleroderma lung disease, and alpha-1 antitrypsin deficiency, and their epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnosis, conventional management and treatment strategies, and future therapies and directions.
These ultrastructural features are consistent with complete ciliary aplasia which is a rare form of primary ciliary dyskinesia
Both children had a pair of rare genetic diseases--Miller syndrome, characterized by craniofacial abnormalities, and primary ciliary dyskinesia
, which affects the respiratory tract.