Browsing by Issue Date, starting with "2017-07"
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- 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.
- Vacuum-assisted closure therapy after resection of giant basal cell carcinoma of the scalpPublication . Pereira, S.; Malta, W.; Canha, A.; Polónia, J.Management of complicated wounds is a challenge in head and neck reconstruction. Although the negative pressure wound therapy or wound vacuum-assisted closure has been widely used in complicated wounds and shows promising results, its application in the head and neck region after reconstruction for the head and neck cancer is rarely presented. A 77-year-old woman underwent a radical resection of an extensive basal cell carcinoma of the scalp and forehead involving the periosteum, where classic reconstruction was difficult, but successfully treated with negative pressure wound therapy. Negative pressure wound therapy is an efficacious tool in cases of complex and extensive defects, when we expect immediate reconstruction with poor results, as would be probable with this scalp lesion.
- Annular elastolytic giant cell granuloma: a "visible" diagnosisPublication . Raposo, I.; Mota, F.; Lobo, I.; Brandão, J.; Selores, M.Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of undetermined cause, characterized by annular plaques with raised erythematous borders in sun-exposed skin. The typical histologic features are dermal infiltration by multinucleated giant cells, elastin degeneration, and elastophagocytosis. The authors describe a clinical case of AEGCG, which exhibited an excellent response to hydroxycloroquine.
- Infantile bullous pemphigoid with "string of pearls sign"Publication . Raposo, I.; Machado, S.; Sampaio, R.; Selores, M.Bullous pemphigoid (BP) is an immune mediated bullous disease that is manifested by urticarial plaques with superimposed subepidermal blisters and significant pruritus. It is generally found in the elderly, but is rare in the pediatric population. A 5-month-old girl previously diagnosed with hand-foot-mouth disease was examined in our dermatology department owing to vesicles and bullae, initially located to the hands and feet, which progressed with new lesions. Tense vesicles and bullae distributed in an annular string of pearls pattern on the abdomen and facial and cervical regions were noted. Histologic and immunologic findings were consistent with the diagnosis of infantile BP. Disease control was obtained with oral prednisolone and dapsone; the patient was still in clinical remission 6 months after treatment cessation. The differential diagnosis of the clinical presentation of the lesions in our patient is of note, given that this blistering pattern is frequently reported in association with linear IgA bullous dermatosis.
- Predictive clinical model of tumor response after chemoradiation in rectal cancerPublication . Santos, M.; Silva, C.; Rocha, A.; Nogueira, C.; Castro-Poças, F.; Araujo, A.; Matos, E.; Pereira, C.; Medeiros, R.; Lopes, C.Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response. The ability to predict tumor response before treatment may significantly have impact the selection of patients for nCRT in rectal cancer. The aim is to identify potential predictive pretreatment factors for Mandard response and build a clinical predictive model design. 167 patients with locally advanced rectal cancer were treated with nCRT and curative surgery. Blood cell counts in peripheral blood were analyzed. Pretreatment biopsies expression of cyclin D1, epidermal growth factor receptor (EGFR), vascular endothelial growth factor (VEGF) and protein 21 were assessed. A total of 61 single nucleotide polymorphisms were characterized using the Sequenom platform through multiplex amplification followed by mass-spectometric product separation. Surgical specimens were classified according to Mandard TRG. The patients were divided as: "good responders" (Mandard TRG1-2) and "poor responders" (Mandard TGR3-5). We examined predictive factors for Mandard response and performed statistical analysis. In univariate analysis, distance from anal verge, neutrophil lymphocyte ratio (NLR), cyclin D1, VEGF, EGFR, protein 21 and rs1810871 interleukin 10 (IL10) gene polymorphism are the pretreatment variables with predictive value for Mandard response. In multivariable analysis, NLR, cyclin D1, protein 21 and rs1800871 in IL10 gene maintain predictive value, allowing a clinical model design.