Related Experiment Videos
Initial report from the Hunter Outcome Survey
J Edmond Wraith1, Michael Beck, Roberto Giugliani
1From the 1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, United Kingdom. ed.wraith@cmmc.nhs.uk
Summary
The Hunter Outcome Survey (HOS) tracks Hunter syndrome (Mucopolysaccharidosis II), a rare genetic disorder. It aims to improve understanding of the disease
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Biochemical pathways
Background:
- Hunter syndrome, or Mucopolysaccharidosis II, is a rare X-linked genetic disorder.
- It results from a deficiency in the iduronate-2-sulfatase enzyme, leading to glycosaminoglycan accumulation.
- This accumulation contributes to the complex pathophysiology of the syndrome.
Purpose of the Study:
- To establish the Hunter Outcome Survey (HOS) for a comprehensive understanding of Hunter syndrome.
- To describe the natural history of this rare genetic disorder.
- To evaluate the long-term efficacy and impact of enzyme replacement therapy (ERT).
Main Methods:
- HOS is an international, multicenter, long-term observational study.
- Data is collected from patients with confirmed Hunter syndrome diagnoses during routine physician visits.
- An electronic database captures vital signs, lab values, organ involvement, and functional test results.
Main Results:
- As of May 2007, 263 patients from 16 countries were enrolled in HOS.
- 24% of enrolled patients were receiving enzyme replacement therapy.
- Median ages for symptom onset and diagnosis were 1.5 and 3.5 years, respectively, with otitis media and abdominal hernia being early symptoms.
Conclusions:
- HOS serves as a crucial resource for advancing knowledge of Hunter syndrome.
- The survey provides valuable insights into the disease's natural progression.
- It highlights the role of enzyme replacement therapy in managing Hunter syndrome, encouraging patient and physician participation.
Related Concept Videos
00:48Optimal Foraging
How animals obtain and eat their food is called foraging behavior. Foraging can include searching for plants and hunting for prey and depends on the species and environment.
02:16Surveys
Often, psychologists develop surveys as a means of gathering data. Surveys are lists of questions to be answered by research participants, and can be delivered as paper-and-pencil questionnaires, administered electronically, or conducted verbally. Generally, the survey itself can be completed in a short time, and the ease of administering a survey makes it easy to collect data from a large number of people.
01:25Types of Reports I: Hand-off Report
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
01:21Types of Reports II: Incident or Occurrence Report
An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
04:49Robbers Cave
During the 1950s, the landmark Robbers Cave experiment demonstrated that when groups must compete with one another, intergroup conflict, hostility, and even violence may result. At the Oklahoman summer camp, two troops of boys—termed the Rattlers and the Eagles—took part in a week-long tournament. During this time, their negativity culminated in derogatory name-calling, fistfights, and even vandalism and destruction of property. However, this work also revealed that such tension could be...
01:07Data Collection by Survey
The systematic method of obtaining and analyzing accurate information of a population is called data collection. A survey is a standard method of data collection that involves collecting information from a target human population about their experience, opinion, or knowledge of a product, service, or process. The responses are recorded and interpreted. The most common survey examples are written questionnaires, face-to-face or telephonic conversations, focus groups, and electronic (e-mail or...