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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 98: Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#36 of 558)
  • High Attention Score compared to outputs of the same age (81st percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

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Chapter title
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
Chapter number 98
Book title
JIMD Reports, Volume 41
Published in
JIMD Reports, January 2018
DOI 10.1007/8904_2018_98
Pubmed ID
Book ISBNs
978-3-66-258080-6, 978-3-66-258081-3
Authors

Bryony Langford, Megan Besford, Aimée Hall, Lucy Eddowes, Oliver Timmis, James A. Gallagher, Lakshminarayan Ranganath, Langford, Bryony, Besford, Megan, Hall, Aimée, Eddowes, Lucy, Timmis, Oliver, Gallagher, James A., Ranganath, Lakshminarayan

Abstract

Alkaptonuria (AKU) is a rare disorder with no licensed treatment; nitisinone may reduce symptoms and progression. The All Alkaptonuria Severity Score Index (AKUSSI) measures disease severity in clinical, joint and spine domains, with 57 subcomponent feature scores. Our primary aim was to assess tools for validating scores such as the AKUSSI by detecting relationships between features both before and during nitisinone treatment. AKUSSI measurements from nitisinone-treated patients visiting the National AKU Centre between 01-Jun-2012 and 31-May-2016 were analysed pre-treatment, at first treatment and annually to Year 3 post-treatment. Principal component analysis (PCA) and redundancy analysis assessed whether any AKUSSI features contributed little information to the overall score. 65 AKU patients were included: 17 with a pre-treatment AKUSSI measurement (10 later received nitisinone) and 48 with a first measurement at their first treatment visit. In PCA, the first four principal components (PC1-PC4) explained ≥50% of AKUSSI variance at all visits (54.1-87.3%). Some features regularly dominated their domain's PC1: ears, aortic sclerosis, and nasal/temporal eye scores (clinical), pain-related scores (joint) and cervical, lumbar and thoracic spine scores (spine). Only the right-hand/wrist score was consistently redundant. Right eye (nasal) and left ear scores were redundant pre-treatment, potentially correlating with other dominant clinical PC1 features. PCA and redundancy analysis supported the AKUSSI as a robust AKU disease severity measure, although some AKUSSI features could be removed for simplicity. For small patient populations and rare diseases, PCA and redundancy analysis together can aid validation of disease severity metrics.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 17%
Student > Doctoral Student 2 17%
Student > Ph. D. Student 2 17%
Student > Master 1 8%
Researcher 1 8%
Other 0 0%
Unknown 4 33%
Readers by discipline Count As %
Medicine and Dentistry 4 33%
Biochemistry, Genetics and Molecular Biology 2 17%
Psychology 1 8%
Engineering 1 8%
Unknown 4 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 01 October 2020.
All research outputs
#3,735,217
of 23,043,346 outputs
Outputs from JIMD Reports
#36
of 558 outputs
Outputs of similar age
#81,873
of 442,416 outputs
Outputs of similar age from JIMD Reports
#2
of 22 outputs
Altmetric has tracked 23,043,346 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 558 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done particularly well, scoring higher than 93% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 442,416 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
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 has done particularly well, scoring higher than 90% of its contemporaries.