Track topics on Twitter Track topics that are important to you
The purpose of this study is to
1. better characterize the short term and long term natural history of hereditary spherocytosis (HS) including diagnosis, complications, and indications for and response to splenectomy
Patients with a new or established diagnosis of HS seen at Children's Medical Center will be asked to enroll in the study. Previous and current medical records will be reviewed to systematically catalogue their history of HS, including diagnosis, complications, hospitalizations, medications and laboratory data. Health-related quality of life questionnaires will be given to the patients and their parents at enrollment and periodically during the follow-up. Those who agree will have up to three small samples of blood collected and frozen for future laboratory studies of complications associated with HS and/or splenectomy.
We anticipate enrolling approximately 200 children and young adults with HS in this study and following them until adulthood (age 18-21 years).
Observational Model: Cohort, Time Perspective: Prospective
Children's Medical Center
University of Texas Southwestern Medical Center
Published on BioPortfolio: 2014-08-27T03:13:01-0400
To explore the feasibility of a new Dried Blood Spot (DBS) filtercard-based screening algorithm and thereby analyzing the prevalence of the Hereditary Angioedema in patients with unclear r...
The purpose of the registry/repository is to understand the natural history of tyrosinemia in our region and to provide a mechanism to store data and specimens to support the conduct of fu...
Development of a new mass spectrometry based biomarker for the early and sensitive diagnosis of hereditary angioedema disease type 1 from plasma
RATIONALE: Gathering medical and family history information from patients and family members may help doctors better understand hereditary colorectal cancer and hereditary polyposis syndro...
This study is a Phase 2 multicenter, randomized, placebo controlled, double-blind study. The primary objective of the study is to evaluate the effect of LJPC-401 (synthetic human hepcidin)...
To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in two individuals in a family.
Hereditary spherocytosis in the Hispanic population does not often present with severe hyperbilirubinemia. Spectrin and band 3 mutations are most frequent in this population.
Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 muta...
Development of additional parameters for complete blood count has emerged in recent hematology analyzers, leading to many publications. However, few studies have been conducted on advanced RBC paramet...
A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.
Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
A form of hereditary angioedema that occurs in women and is precipitated or worsened by high ESTROGEN levels. It is associated with mutations in the gene for FACTOR XII that result in its increased activity.
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...