Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice

2020 ◽  
Author(s):  
Courtney M. Studwell ◽  
Emily G. Kelley ◽  
Janet S. Sinsheimer ◽  
Christina G. S. Palmer ◽  
Kimberly LeBlanc ◽  
...  
Keyword(s):  
Undiagnosed Disease ◽  
Genetic Result

scholarly journals Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

2018 ◽  
Vol 379 (22) ◽  
pp. 2131-2139 ◽  
Author(s):  
Kimberly Splinter ◽  
David R. Adams ◽  
Carlos A. Bacino ◽  
Hugo J. Bellen ◽  
Jonathan A. Bernstein ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Undiagnosed Disease

scholarly journals Early Detection of Public Health Emergencies of International Concern through Undiagnosed Disease Reports in ProMED-Mail

2020 ◽  
Vol 26 (2) ◽  
pp. 336-339 ◽  
Author(s):  
Camille Rolland ◽  
Clément Lazarus ◽  
Coralie Giese ◽  
Bastien Monate ◽  
Anne-Sophie Travert ◽  
...  
Keyword(s):  
Public Health ◽  
Early Detection ◽  
Public Health Emergencies ◽  
Undiagnosed Disease

Clues to duration of undiagnosed disease from retinopathy and maculopathy at diagnosis in type 2 diabetes: a cross-sectional study

2010 ◽  
Vol 95 (9) ◽  
pp. 1229-1233 ◽  
Author(s):  
J. D. Ellis ◽  
T. Zvandasara ◽  
G. Leese ◽  
R. McAlpine ◽  
C. J. MacEwen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Undiagnosed Disease

Nailfold capillaroscopy alterations in androgenetic alopecia: A case–control study

2021 ◽  
Vol 0 ◽  
pp. 1-8
Author(s):  
Lei Cao ◽  
Yajuan Wu ◽  
Yuanbo Huang ◽  
Zhongming Li ◽  
Jing Zhu ◽  
...  
Keyword(s):  
Case Control Study ◽  
Independent Predictor ◽  
Case Control ◽  
Nailfold Capillaroscopy ◽  
Androgenetic Alopecia ◽  
Healthy Controls ◽  
Limited Sample ◽  
Undiagnosed Disease ◽  
Control Study ◽  
Nailfold Capillaries

Background: Androgenetic alopecia is considered to be an independent predictor of mortality from diabetes mellitus and heart disease. However, whether androgenetic alopecia causes changes in microcirculation is unknown. Objective: The objective of the study was to investigate whether alterations in nailfold capillaries occur in androgenetic alopecia patients. Methods: The nailfold capillaroscopy images of androgenetic alopecia patients and matched controls were collected and analyzed. Results: The frequencies of avascular areas, dilated, bushy and bizarre capillaries and capillary disorganization, nailfold capillaroscopy scores of 2 or scores both 2 and 3 were significantly higher in the androgenetic alopecia group than in the healthy controls (9.0% vs. 0%, 57.7% vs. 19.2%, 3.8% vs. 0%, 2.8% vs. 1.3%, 3.8% vs. 0%, 38.5% vs. 12.8% and 39.7% vs. 12.8%, respectively). Limitations: The results of this study may be biased on account of the limited sample size or the presence of an undiagnosed disease in participants which could alter the nailfold capillaries. Conclusion: Bushy, bizarre and dilated capillaries, capillary disorganization, avascular areas and nailfold capillaroscopy scores of 2 or 2 and 3 were more common in androgenetic alopecia patients than in healthy controls. These findings indicate that abnormalities in microcirculation may be involved in androgenetic alopecia.

Effect of genetic diagnosis on patients with previously undiagnosed disease

2019 ◽  
Author(s):  
Splinter K ◽  
Adams DR ◽  
Bacino CA ◽  
Bellen HJ ◽  
Bernstein JA ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Undiagnosed Disease

Hearing Impairment and Undiagnosed Disease: The Potential Role of Clinical Recommendations

2017 ◽  
Vol 60 (1) ◽  
pp. 231-237
Author(s):  
Nicole M. Marlow ◽  
John Malaty ◽  
Ara Jo ◽  
Rebecca J. Tanner ◽  
Valery M. Beau de Rochars ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Potential Role ◽  
Clinical Recommendations ◽  
Undiagnosed Disease
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