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JIMD Reports, Volume 41

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Cover of 'JIMD Reports, Volume 41'

Table of Contents

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    Book Overview
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    Chapter 72 Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment
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    Chapter 74 Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation
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    Chapter 76 Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
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    Chapter 80 Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example
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    Chapter 81 Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
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    Chapter 84 The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients
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    Chapter 90 Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing
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    Chapter 98 Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
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    Chapter 102 Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
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    Chapter 103 Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature
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    Chapter 104 Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series
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    Chapter 105 Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress
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    Chapter 106 P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years
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    Chapter 109 Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
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    Chapter 120 Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
Attention for Chapter 80: Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example
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Chapter title
Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example
Chapter number 80
Book title
JIMD Reports, Volume 41
Published in
JIMD Reports, January 2018
DOI 10.1007/8904_2017_80
Pubmed ID
Book ISBNs
978-3-66-258080-6, 978-3-66-258081-3
Authors

Adam C. Cotton, R. B. Bell, H. A. Jinnah, Cotton, Adam C., Bell, R. B., Jinnah, H. A.

Abstract

Treatment recommendations for rare disorders often are limited by a lack of data from objective clinical trials. As a result, recommendations are often based on expert opinion. Because expert opinions sometimes conflict, many patients turn to the Internet for guidance from others who may have tried a treatment. The increasing numbers of patients and families who post opinions regarding outcomes allow for systematic data collection regarding specific treatments from the patient perspective. We used social media research methods to determine the opinions of family members or other caregivers regarding permanent removal of teeth for treatment of self-injurious biting (SIB) in patients with Lesch-Nyhan disease (LND), a particularly difficult treatment decision where expert opinion is divided. A content analysis of social media postings was used to systematically interpret caregiver posts about tooth extraction from families and other caregivers of patients with LND who posted comments regarding physical or emotional well-being after tooth extraction. A scale was used to rate all posted opinions. Scores ranged from 1 to 5, with 1 being completely negative and 5 being completely positive. 170 comments from 46 unique individuals were collected and scored by two raters. Inter-rater reliability, determined using a correlation coefficient across all postings, was 0.85, suggesting a high degree of reliability. The overall average caregiver sentiment score was 4.86, which is an overwhelmingly positive endorsement of tooth extraction as a means for controlling SIB. These methods provide a simple strategy for recommending treatment strategies based on real-world experience when objective clinical trials are unviable.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 6 19%
Researcher 4 13%
Other 2 6%
Student > Master 2 6%
Student > Doctoral Student 1 3%
Other 4 13%
Unknown 13 41%
Readers by discipline Count As %
Medicine and Dentistry 6 19%
Psychology 4 13%
Arts and Humanities 2 6%
Nursing and Health Professions 1 3%
Agricultural and Biological Sciences 1 3%
Other 4 13%
Unknown 14 44%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 16 December 2017.
All research outputs
#20,456,235
of 23,012,811 outputs
Outputs from JIMD Reports
#496
of 556 outputs
Outputs of similar age
#378,166
of 442,319 outputs
Outputs of similar age from JIMD Reports
#20
of 22 outputs
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So far Altmetric has tracked 556 research outputs from this source. They receive a mean Attention Score of 2.9. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.