Browsing by Author "Ramos, P."
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- A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional managementPublication . Pinto, Al.; MacDonald, A.; Cleto, E.; Almeida, M.; Ramos, P.; Rocha, J.Pinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr 2017; 59: 189-192. The objective was to describe the nutritional management of a 4-year-old child with glucose-6-phosphate dehydrogenase (G6PD) deficiency. A 4-year-old male child, African descent, born from non-consanguineous parents presented with a clinical history of frequent respiratory infections, usually treated with antibiotics. At 30 months of age, G6PD diagnosis was made after eating one portion (40 - 60 g) of fava beans, resulting in severe hemolytic anemia hospitalization for 5 days. Diagnosis was confirmed by G6PD activity measurement. Nutritional counseling was given to avoid dietary oxidative stressors particularly the exclusion of fava beans and accidental ingestion of other similar beans. Dietary intake of high vitamin C containing foods was discouraged and adequate hydration advised. Nutritional management is crucial in preventing acute stress events in patients with G6PD deficiency.
- Transancestral mapping and genetic load in systemic lupus erythematosusPublication . Langefeld, C.; Ainsworth, H.; Cunninghame Graham, D.; Kelly, J.; Comeau, M.; Marion, M.; Howard, T.; Ramos, P.; Croker, J.; Morris, D.; Sandling, J.; Almlöf, J.; Acevedo-Vásquez, E.; Alarcón, G.; Babini, A.; Baca, V.; Bengtsson, A.; Berbotto, G.; Bijl, M.; Brown, E.; Brunner, H.; Cardiel, M.; Catoggio, L.; Cervera, R.; Cucho-Venegas, J.; Dahlqvist, S.; D'Alfonso, S.; Da Silva, B.; de la Rúa Figueroa, I.; Doria, A.; Edberg, J.; Endreffy, E.; Esquivel-Valerio, J.; Fortin, P.; Freedman, B.; Frostegård, J.; García, M.; de la Torre, I.; Gilkeson, G.; Gladman, D.; Gunnarsson, I.; Guthridge, J.; Huggins, J.; James, J.; Kallenberg, C.; Kamen, D.; Karp, D.; Kaufman, K.; Kottyan, L.; Kovács, L.; Laustrup, H.; Lauwerys, B.; Li, Q.; Maradiaga-Ceceña, M.; Martín, J.; McCune, J.; McWilliams, D.; Merrill, J.; Miranda, P.; Moctezuma, J.; Nath, S.; Niewold, T.; Orozco, L.; Ortego-Centeno, N.; Petri, M.; Pineau, C.; Pons-Estel, B.; Pope, J.; Raj, P.; Ramsey-Goldman, R.; Reveille, J.; Russell, L.; Sabio, J.; Aguilar-Salinas, C.; Scherbarth, H.; Scorza, R.; Seldin, M.; Sjöwall, C.; Svenungsson, E.; Thompson, S.; Toloza, S.; Truedsson, L.; Tusié-Luna, T.; Vasconcelos, C.; Vilá, L.; Wallace, D.; Weisman, M.; Wither, J.; Bhangale, T.; Oksenberg, J.; Rioux, J.; Gregersen, P.; Syvänen, A.; Rönnblom, L.; Criswell, L.; Jacob, C.; Sivils, K.; Tsao, B.; Schanberg, L.; Behrens, T.; Silverman, E.; Alarcón-Riquelme, M.; Kimberly, R.; Harley, J.; Wakeland, E.; Graham, R.; Gaffney, P.; Vyse, T.Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10-8), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect. The risk allele count (genetic load) exhibits an accelerating pattern of SLE risk, leading us to posit a cumulative hit hypothesis for autoimmune disease. Comparing results across the three ancestries identifies both ancestry-dependent and ancestry-independent contributions to SLE risk. Our results are consistent with the unique and complex histories of the populations sampled, and collectively help clarify the genetic architecture and ethnic disparities in SLE.