scholarly journals Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

2020 ◽  
Vol 129 (2) ◽  
pp. 150-160 ◽  
Author(s):  
Olga Azevedo ◽  
Andreas Gal ◽  
Rui Faria ◽  
Paulo Gaspar ◽  
Gabriel Miltenberger-Miltenyi ◽  
...  
2021 ◽  
Vol 132 (2) ◽  
pp. S27
Author(s):  
Jennifer Coker ◽  
Ashlee R. Stiles ◽  
Deeksha Bali ◽  
Sara P. Young ◽  
Marie T. McDonald ◽  
...  

2013 ◽  
Vol 426 ◽  
pp. 114-120 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Yu-Hsiu Huang ◽  
Yann-Jang Chen ◽  
Shu-Min Kao ◽  
Hsiang-Yu Lin ◽  
...  
Keyword(s):  

Author(s):  
Shivani Yadav ◽  
Srishti Tripathi ◽  
Soumya Agarwal ◽  
Titiksha Hans ◽  
Anshul Choudhary ◽  
...  

Background: According to Global Burden of Skin Disease study data, 2013, Acne affects nearly 85% of adolescents and young adults in the age group 12-25 years.1 traditionally it was considered to be a transitory disease of teenagers and young adults; however recent study reports indicate it to be a disease affecting all age groups in adults. Aims: To study the clinical profile of adult acne, grade the severity using global acne grading system (GAGS) and to determine the proportion of Polycystic Ovary Syndrome (PCOS) in women with adult acne. Material and Methods: Patients with acne in the age group of 25-60 years were included in the study. A detailed examination of clinical profile of acne was done along with grading of severity of acne using GAGS. Also, documentation of hyperandrogenism using Ferriman Gallwey score for hirsutism and diagnosis of PCOS using Rotterdam criteria was done in all female patients of acne. Results: A total of 105 patients were included in the study. Among these, 82.9% were women and 17.1% were men. The mean age of the patients was 28.04±3.60 years. Persistent acne was observed in 85.7%, while late onset in 14.3%. Most common site of involvement was cheek (98%), followed by chin (76%), and forehead (64.7%). Mild grade acne was observed in 93.3% patients. Hyperpigmentation was seen in 78.1% while scarring was observed in 52.4% patients. A total of 8% female patients had PCOS according to Rotterdam criteria. Conclusion: We found a predominance of females and persistent acne. Although the prevalence of PCOS was low in adult female acne patients, they were affected by more severe grades of acne and risk of hyperpigmentation and scarring was higher as compared to non-PCOS patients.


2020 ◽  
Vol 36 (11) ◽  
pp. 1832.e1-1832.e4
Author(s):  
Giulia De Angelis ◽  
Zoi Tsoumani ◽  
Anna Reid ◽  
Gaetano Nucifora ◽  
Richard Bruce Irwin ◽  
...  

2019 ◽  
Vol 20 (10) ◽  
pp. 1182-1182
Author(s):  
Constantin Gatterer ◽  
Dietrich Beitzke ◽  
Raute Sunder-Plassmann ◽  
Gere Sunder-Plassmann ◽  
Senta Graf

Circulation ◽  
2002 ◽  
Vol 105 (12) ◽  
pp. 1407-1411 ◽  
Author(s):  
B. Sachdev ◽  
T. Takenaka ◽  
H. Teraguchi ◽  
C. Tei ◽  
P. Lee ◽  
...  

2008 ◽  
Vol 39 (3) ◽  
pp. 233-237 ◽  
Author(s):  
Yoshiro Nagao ◽  
Haruko Nakashima ◽  
Yukiko Fukuhara ◽  
Michie Shimmoto ◽  
Akihiro Oshima ◽  
...  

2020 ◽  
Vol 21 ◽  
Author(s):  
Diego A. Ávila-Sánchez ◽  
Esther Cambronero-Cortinas ◽  
Manuel Barreiro-Pérez ◽  
Juan L. Rodríguez-Hernández ◽  
Brais Díaz-Fernández ◽  
...  

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