scholarly journals Clinical characterization of the pre-ictal state in the pediatric population: A caretaker's perspective

2017 ◽  
Vol 70 ◽  
pp. 193-197 ◽  
Author(s):  
Puja Patel ◽  
Victor Ferastraoaru ◽  
Dov Gold ◽  
Andrew Lipnick ◽  
Rana Jehle ◽  
...  
Keyword(s):  
2016 ◽  
Vol 136 (5) ◽  
pp. S53
Author(s):  
S. Bredif ◽  
G. Boyer ◽  
G. Bellemere ◽  
A. Moga ◽  
C. de Belilovsky ◽  
...  

2019 ◽  
Vol 38 (12) ◽  
pp. 1168-1172
Author(s):  
Viviana Sánchez-Encinales ◽  
Guillermo Ludwig ◽  
Esther Tamayo ◽  
Jose Maria García-Arenzana ◽  
Carmen Muñoz-Almagro ◽  
...  

2007 ◽  
Vol 38 (1) ◽  
pp. 78-82 ◽  
Author(s):  
Islem Abid ◽  
Susana Guix ◽  
Mahjoub Aouni ◽  
Rosa Pintó ◽  
Albert Bosch

2016 ◽  
Vol 110 (7) ◽  
pp. 414-420 ◽  
Author(s):  
Mahwish Younas ◽  
Fariha Siddiqui ◽  
Zobia Noreen ◽  
Syeda Sadia Bokhari ◽  
Oscar G. Gomez-Duarte ◽  
...  
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Apmis ◽  
2016 ◽  
Vol 124 (10) ◽  
pp. 872-880 ◽  
Author(s):  
Uzma Khalil ◽  
Mahwish Younus ◽  
Naeem Asghar ◽  
Fariha Siddiqui ◽  
Oscar G. Gómez-Duarte ◽  
...  

2013 ◽  
Vol 6 (2) ◽  
pp. 109-113
Author(s):  
Rafael José Pérez-Cambrodí ◽  
Francisco Sañudo Buitrago ◽  
Juan Pedro Ruiz Fortes ◽  
Genís Cardona

2020 ◽  
Author(s):  
Yazmina Lascano-Vaca ◽  
Esteban Ortiz-Prado ◽  
Lenin Gomez-Barreno ◽  
Katherine Simbaña-Rivera ◽  
Eduardo Vasconez ◽  
...  

Abstract Background: To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCAM) within the study period. Methods: A cross-sectional analysis of the pediatric population with a confirmed diagnosis of CF disease who attended HCAM , one of the largest tertiary-level hospitals in Ecuador, between 2017 and 2018 was performed. All demographic, clinical and genetic variables were obtained from the electronic medical records (EMR) stored by the hospital. Results: 47 patients with CF were included in the study. Gender distribution was similar between male (48.9%, n = 23) and female patients (51.1%, n = 24). The Tiffeneau-Pinelli index (FEV 1 /FVC) changed significantly after nine months post-diagnosis (85.55 ± 13.26; p < 0.05). The most common pathogenic genetic variants were F508del, found in 52.78% of the cohort (n = 19); H609R, found in 36.11% (n = 13); g.204099A>C, found in 14.1% (n = 7), followed by G85E and the N1303K with 11.11% (n = 3) each. Conclusions: To our best knowledge, this is the first study exploring the clinical, genetic and bacteriological profile of CF’s patients in Ecuador. Within the cohort of patients, an important and unique genetic feature was characterized by the presence of the g.204099A> C and the c.206359C>A homozygous polymorphism as well as the presence of the H609R variant, a mutation only reported among Ecuadorians.


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