HPS

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HPS

Abbr. for “high-pressure sodium.”
References in periodicals archive ?
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder caused by mutations in one of ten different genes that lead to platelet dense granule deficiency.
Challenging cross-sectional images at my community/university hybrid hospital today alone included--no exaggeration--a spontaneously ruptured spleen in a patient with lymphoma; an atypical presentation of aspergillosis in a patient with vasculitis and emphysema; appendiceal mucoceles without and with appendicitis; complications of pulmonary embolism; and Hermansky-Pudlak syndrome (Good thing I went to that RSNA film panel two years ago--I was all over that last scan).
Numerous less common and rare entities are also discussed, including idiopathic nonspecific interstitial pneumonia (NSIP), advanced pulmonary Langerhans cell histiocytosis (PLCH) and smokingrelated interstitial fibrosis, end-stage pulmonary sarcoidosis, Erdheim-Chester disease (ECD), and Hermansky-Pudlak syndrome.
Differential diagnosis includes Hermansky-Pudlak syndrome and Griscelli syndrome.
Several genetic diseases, including Hermansky-Pudlak syndrome (HPS 1 and 3), are found with relatively high frequency on the island of Puerto Rico (1)(2).
Donna Appell, a registered nurse and founder of the Hermansky-Pudlak Syndrome (HPS) Network, writes in Chapter 4 about the importance of screening for this rare variant of albinism.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and platelet aggregation disorder.
The majority of these comprise the various forms of Hermansky-Pudlak syndrome.
A blind schoolteacher from Andhra Pradesh, who was suffering from a rare genetic condition called the Hermansky-Pudlak Syndrome (HPS), underwent successful double-lung transplantation at the Apollo Hospitals here.
The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radu (TAR), Glanzmann's thrombasthenia and Hermansky-Pudlak syndrome.
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.
Mutations in the binding site of AP3 also cause CN in patients with Hermansky-Pudlak syndrome type 2 (HPS2) [14].