scholarly journals Personalized Proteomics for Precision Diagnostics in Hearing Loss: Disease-Specific Analysis of Human Perilymph by Mass Spectrometry

ACS Omega ◽  
2021 ◽  
Author(s):  
Heike A. Schmitt ◽  
Andreas Pich ◽  
Nils K. Prenzler ◽  
Thomas Lenarz ◽  
Jennifer Harre ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Hearing Loss ◽  
Specific Analysis ◽  
Disease Specific

scholarly journals Global and site‐specific analysis of protein glycosylation in complex biological systems with Mass Spectrometry

2019 ◽  
Vol 38 (4-5) ◽  
pp. 356-379 ◽  
Author(s):  
Haopeng Xiao ◽  
Fangxu Sun ◽  
Suttipong Suttapitugsakul ◽  
Ronghu Wu
Keyword(s):  
Mass Spectrometry ◽  
Biological Systems ◽  
Protein Glycosylation ◽  
Site Specific ◽  
Specific Analysis

Quality of life measures in otitis media

2013 ◽  
Vol 127 (5) ◽  
pp. 442-447 ◽  
Author(s):  
E J Maile ◽  
R Youngs
Keyword(s):  
Quality Of Life ◽  
Hearing Loss ◽  
Hearing Impairment ◽  
Otitis Media ◽  
Chronic Otitis Media ◽  
Pure Tone Audiometry ◽  
Quality Of Life Measures ◽  
Generic Measures ◽  
Disease Specific

AbstractDisabling hearing impairment is the world's most common disability. Traditionally, hearing levels measured by pure tone audiometry have been used to define and quantify hearing loss. The effects of disabling hearing loss on patients' quality of life can be profound, and audiometric data alone may not correlate with quality of life measures. Generic measures of quality of life can be used to compare different diseases, and as such are useful in resource allocation and burden of disease studies. Their disadvantage is that they are not disease-specific and can therefore under-estimate the effects of a disease on patients' quality of life. Disease-specific measures are more sensitive. In chronic otitis media, additional factors such as discharge augment the effect of hearing loss alone on quality of life. Many of the quality of life measures developed for chronic otitis media have been used to assess improvement following reconstructive surgery. Quality of life measures have also been used to assess the effect of paediatric otitis media. Quality of life measures also have utility in the developing world, where hearing impairment is a huge burden.

scholarly journals Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

2021 ◽  
Author(s):  
Mayher J Patel ◽  
Marina T DiStefano ◽  
Andrea M Oza ◽  
Madeline Y Hughes ◽  
Emma H Wilcox ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Pathology ◽  
Genetic Disorders ◽  
Medical Genetics ◽  
Sequence Variant ◽  
Variant Interpretation ◽  
Disease Specific

AbstractPurposeThe ClinGen Variant Curation Expert Panels (VCEPS) provide disease-specific rules for accurate variant interpretation. Using hearing loss-specific American College of Medical Genetics/Association for Molecular Pathology (HL-specific ACMG/AMP) guidelines, the ClinGen Hearing Loss VCEP (HL VCEP) illustrates the utility of expert specifications in resolving conflicting variant interpretations.MethodsA total of 157 variants across nine hearing loss genes were curated and submitted to ClinVar by the HL VCEP. The curation process consisted of collecting published and unpublished data for each variant by biocurators, followed by bi-monthly meetings of an expert curation subgroup that reviewed all evidence and applied the HL-specific ACMG/AMP guidelines to reach a final classification.ResultsBefore expert curation, 75% (117/157) of variants had single or multiple VUS submissions (17/157) or had conflicting interpretations in ClinVar (100/157). After applying the HL-specific ACMG/AMP guidelines, 24% (4/17) of VUS variants and 69% (69/100) of discordant variants were resolved into Benign (B), Likely Benign (LB), Likely Pathogenic (LP), or Pathogenic (P). Overall, 70% (109/157) variants had unambiguous classifications (B, LB, LP, P). We quantify the contribution of the HL-specified ACMG/AMP codes to variant interpretation.ConclusionExpert specification and application of the HL-specific ACMG/AMP guidelines effectively resolved discordant interpretations in ClinVar. This study supports the utility of ClinGen VCEPs in helping the community move towards more consistent variant interpretations, which will improve the care of patients with genetic disorders.

Glycan reductive amino acid coded affinity tagging (GRACAT) for highly specific analysis of N-glycome by mass spectrometry

2019 ◽  
Vol 1089 ◽  
pp. 90-99 ◽  
Author(s):  
Yuying Wang ◽  
Yan Cai ◽  
Ying Zhang ◽  
Haojie Lu
Keyword(s):  
Mass Spectrometry ◽  
Amino Acid ◽  
Specific Analysis

Abstract 5567: Pancreatic disease-specific carriers of the CA 19-9 antigen identified by antibody microarrays and mass spectrometry

2010 ◽  
Author(s):  
Tingting Yue ◽  
Mary C. Hurley ◽  
Randel E. Brand ◽  
Philip C. Andrews ◽  
Brian B. Haab
Keyword(s):  
Mass Spectrometry ◽  
Pancreatic Disease ◽  
Antibody Microarrays ◽  
Disease Specific
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