A literature review at genome scale: improving clinical variant assessment

Christopher A Cassa; Daniel M Jordan; Ivan Adzhubei; Shamil Sunyaev

doi:10.1038/gim.2017.230

Familial Eruptive Syringomas: Case Report and Review of the Literature

Journal of Cutaneous Medicine and Surgery ◽

10.2310/7750.2012.12027 ◽

2013 ◽

Vol 17 (2) ◽

pp. 84-88 ◽

Cited By ~ 5

Author(s):

Jenny Lau ◽

Richard M. Haber

Keyword(s):

Case Report ◽

Literature Review ◽

Rare Clinical Entity ◽

Benign Neoplasms ◽

Review Of The Literature ◽

Causative Gene ◽

Unusual Condition ◽

Clinical Variant ◽

Insight Into

Background: Syringomas are benign neoplasms of eccrine origin. A clinical variant is eruptive syringomas, which presents as firm, smooth, yellow to pigmented papules that appear as successive crops on the neck, axillae, chest, abdomen, and/or periumbilical region. To our knowledge, there are only 10 published reports of familial eruptive syringomas. Herein we describe the eleventh report of familial eruptive syringomas, review the literature on this unusual presentation, and suggest a novel classification of familial syringomas based on our literature review. Observations: We report two cases of eruptive syringoma within a family. Eruptive syringomas were widely distributed on the trunk of a healthy 16-year-old female and her 19-year-old brother. Both the 19-year-old man and his mother also had infraorbital syringomas. Conclusion: Familial eruptive syringomas are a rare clinical entity that is likely autosomal dominantly inherited. Future reports of this unusual condition may provide further insight into the etiology of familial syringomas, and genetic analysis of cases may enable the causative gene mutation to be determined.

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A literature review at genome scale: improving clinical variant assessment

10.1101/193870 ◽

2017 ◽

Author(s):

Christopher A. Cassa ◽

Daniel M. Jordan ◽

Ivan Adzhubei ◽

Shamil Sunyaev

Keyword(s):

Impact Factor ◽

Rare Variants ◽

Structural Features ◽

Mendelian Disease ◽

Citation Data ◽

Large Numbers ◽

Predictive Algorithms ◽

Disease Associations ◽

Genome Scale ◽

Variant Assessment

AbstractIntroduction: Over 150,000 variants have been reported to cause Mendelian disease in the medical literature. It is still difficult to leverage this knowledge base in clinical practice as many reports lack strong statistical evidence or may include false associations. Clinical laboratories assess whether these variants (along with newly observed variants that are adjacent to these published ones) underlie clinical disorders.Materials and Methods: We measured whether citation data—including journal impact factor and the number of cited variants (NCV) in each gene with published disease associations—can be used to improve variant assessment.Results: Surprisingly, we find that impact factor is not predictive of pathogenicity, but the NCV score for each gene can provide statistical support of pathogenicity. When combining this gene-level citation metric with variant-level evolutionary conservation and structural features, classification accuracy reaches 89.5%. Further, variants identified in clinical exome sequencing cases have higher NCV scores than simulated rare variants from ExAC in matched genes and consequences (p<2.22x10-16).Discussion: Aggregate citation data can complement existing variant-based predictive algorithms, and can boost their performance without accessing and reviewing large numbers of manuscripts. The NCV is a slow-growing metric of scientific knowledge about each gene’s association with disease.Funding: This research was supported by NIH NHGRI grant HG007229 (C.C.) and NIGMS grant GM078598 (I.A., D.J., and S.S.).

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Poikilodermatous Mycosis Fungoides: About 3 Cases and Literature Review

10.47363/jdmrs/2020(1)105 ◽

2020 ◽

pp. 1-2

Author(s):

Elharrouni Alaoui Aicha ◽

◽

Elloudi Sara ◽

Douhi Zakia ◽

Baybay Hanane ◽

...

Keyword(s):

Literature Review ◽

Mycosis Fungoides ◽

Early Stage ◽

The Body ◽

Low Risk ◽

Histological Features ◽

Clinical Variant ◽

Risk Of Disease ◽

Clinical Conditions

Poikilodermatous mycosis fungoides (PMF) is a rare clinical variant of early-stage MF with peculiar histological features. Poikiloderma occurs in many different clinical conditions, which makes a diagnosis procedure more complicated. PMF belongs to a group of MF variants with low risk of disease progression.We report 3 cases presented with mottled skin aspect of erythema, poikilodermatous patches (hypopigmentation, hyperpigmentation, atrophy, and telangiectasia) on more than 50-80% of the body. Based on clinical, histopathological, and immunohistochemical findings, we established the diagnosis of PMF

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Effect of Computerized Auditory Training on Speech Perception of Adults With Hearing Impairment

Perspectives on Aural Rehabilitation and Its Instrumentation ◽

10.1044/arri20.3.91 ◽

2013 ◽

Vol 20 (3) ◽

pp. 91-106 ◽

Cited By ~ 6

Author(s):

Rachel Pizarek ◽

Valeriy Shafiro ◽

Patricia McCarthy

Keyword(s):

Hearing Loss ◽

Speech Perception ◽

Literature Review ◽

Low Cost ◽

Experimental Designs ◽

Auditory Training ◽

Hearing Impairments ◽

Communicative Disorders ◽

And Training

Computerized auditory training (CAT) is a convenient, low-cost approach to improving communication of individuals with hearing loss or other communicative disorders. A number of CAT programs are being marketed to patients and audiologists. The present literature review is an examination of evidence for the effectiveness of CAT in improving speech perception in adults with hearing impairments. Six current CAT programs, used in 9 published studies, were reviewed. In all 9 studies, some benefit of CAT for speech perception was demonstrated. Although these results are encouraging, the overall quality of available evidence remains low, and many programs currently on the market have not yet been evaluated. Thus, caution is needed when selecting CAT programs for specific patients. It is hoped that future researchers will (a) examine a greater number of CAT programs using more rigorous experimental designs, (b) determine which program features and training regimens are most effective, and (c) indicate which patients may benefit from CAT the most.

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Taking Care of Children After Traumatic Brain Injury

Perspectives on School-Based Issues ◽

10.1044/sbi13.3.79 ◽

2012 ◽

Vol 13 (3) ◽

pp. 79-86 ◽

Cited By ~ 1

Author(s):

Julie Haarbauer-Krupa

Keyword(s):

Traumatic Brain Injury ◽

Brain Injury ◽

Literature Review ◽

School Setting ◽

Leadership Role ◽

Speech Language Pathologists ◽

Educational Information ◽

Taking Care

AbstractPurpose: The purpose of this article is to inform speech-language pathologists in the schools about issues related to the care of children with traumatic brain injury.Method: Literature review of characteristics, outcomes and issues related to the needs serving children.Results: Due to acquired changes in cognition, children with traumatic brain injury have unique needs in a school setting.Conclusions: Speech-Language Pathologists in the school can take a leadership role with taking care of children after a traumatic brain injury and coordination of medical and educational information.

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