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About 418 results

ALLMedicine™ Hermansky-Pudlak Syndrome Center

Research & Reviews  153 results

Immune Regulation in Ulcerative Colitis or Crohn s Disease
https://clinicaltrials.gov/ct2/show/NCT00001184

Jun 24th, 2022 - This natural history protocol provides for the evaluation of patients with idiopathic inflammatory bowel diseases (ulcerative colitis, Crohn's disease, IBD associated with immunodeficiency and genetic diseases such as chronic granulomatous disease...

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Jun 24th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066931
Respiratory Research; Abudi-Sinreich S, Bodine SP et. al.

May 6th, 2022 - HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1ep/ep (pale ear) is a naturally occurring HPS-1 mou...

The Microscopy-Based Assay to Study and Analyze the Recycling Endosomes using SNARE Tra...
https://doi.org/10.3791/63087
Journal of Visualized Experiments : JoVE; Bhatt AM, Setty SRG

Mar 1st, 2022 - Recycling endosomes (REs) are tubular-vesicular organelles generated from early/sorting endosomes in all cell types. These organelles play a key role in the biogenesis of melanosomes, a lysosome-related organelle produced by melanocytes. REs deliv...

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Clinicaltrials.gov  9 results

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001456

Jun 24th, 2022 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...

Immune Regulation in Ulcerative Colitis or Crohn s Disease
https://clinicaltrials.gov/ct2/show/NCT00001184

Jun 24th, 2022 - This natural history protocol provides for the evaluation of patients with idiopathic inflammatory bowel diseases (ulcerative colitis, Crohn's disease, IBD associated with immunodeficiency and genetic diseases such as chronic granulomatous disease...

23andMe IPF Research Study
https://clinicaltrials.gov/ct2/show/NCT05028894

Sep 16th, 2021 - This study will recruit 1,000 people who have been diagnosed with IPF or Hermansky-Pudlak syndrome (HPS). Eligible participants who consent to participate in 23andMe Research and the IPF Research Study will receive a 23andMe Health + Ancestry kit ...

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
https://clinicaltrials.gov/ct2/show/NCT02368340

Jun 24th, 2020 - Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. Pulmonary fibrosis causes short...

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001596

Oct 16th, 2017 - Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism and a platelet storage pool defect. The most serious complication of this disorder, which is common in Puerto Rico, is pulmonary fibrosis, ...

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News  5 results

Method could improve diagnosis of platelet disorders
https://www.mdedge.com/hematology-oncology/article/188476/thrombosis/method-could-improve-diagnosis-platelet-disorders
HT Staff

Feb 10th, 2016 - SIM image of platelets Courtesy of Dan Cutler A proof-of-concept study suggests structured illumination microscopy (SIM) enables accurate diagnosis of Hermansky-Pudlak syndrome (HPS), an autosomal recessive disorder characterized by platelet dysfu.

Surgical bleeding risk ‘remarkable’ with platelet disorders
https://www.mdedge.com/surgery/article/100829/bleeding-disorders/surgical-bleeding-risk-remarkable-platelet-disorders
Patrice Wendling

Jun 26th, 2015 - VIENNA – Inherited platelet function disorders are associated with a significant bleeding risk during surgery, a retrospective, multicenter study shows. “The frequency of excessive bleeding assessed by one of three criteria at surgery is pretty re.

New Immune Disease Cripples White Cells
https://www.medpagetoday.com/genetics/generalgenetics/39756

Jun 11th, 2013 - Action Points A newly-described immunodeficiency syndrome of neutrophil defects, bone marrow fibrosis, nephromegaly, and life-threatening infections arises from a genetic mutation that impairs movement of proteins within cells. Note that although ...

A Clinical Variant of Familial Hermansky-Pudlak Syndrome
https://www.medscape.com/viewarticle/448111

Abstract and Introduction Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with ...

A Clinical Variant of Familial Hermansky-Pudlak Syndrome
https://www.medscape.com/viewarticle/448111_3

Literature Review/Discussion General aspects. In a classic study in Puerto Rico, of 693 persons with albinism, HPS was found in 495 (approximately 5/6 albino Puerto Ricans).[9] In the affected subjects, the consistent finding was storage pool defi...

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