RESUMO
Host genetic factors have been proposed as determinants of the variable progression of Chagas disease (ChD). Two polymorphisms, H558R and A572D, of the voltage-gated sodium channel α-subunit SCN5A gene were studied in chagasic patients in order to determine their contribution to the susceptibility to the development and/or to the progression of the cardiovascular disease. A total of 104 patients were classified as seronegative or seropositive for Trypanosoma cruzi antibodies. Clinical evaluation, electrocardiograms (ECG) and echocardiograms (Echo) were performed to detect any conduction and/or structural alteration. Patients were classified into: G1: without ECG and/or Echo alterations, G2: with ECG alterations and G3: with ECG and Echo alterations. H558R and A572D polymorphisms were detected by PCR. Cardiac alterations were more frequent in G2 + G3 seropositive patients. For H558R polymorphism, the C allele was significantly increased in seropositive G2 + G3 patients (P = 0.049. OR = 2.08; 95% CI = 1.12-4.33). When comparing the disease cardiac progression (G2 vs G3), the genotypes from the H558R polymorphism were associated to more intense cardiac alterations (P = 0.018). For A572D polymorphism, no associations were found. The results suggest a possible involvement of SCN5A polymorphisms in the susceptibility to chronic ChD and the disease progression, contributing to the elucidation of the molecular mechanism underlying this complex myocardiopathy. In this regard, this is the first work that studies this gene in the context of chagasic cardiomyopathy.
Assuntos
Cardiomiopatia Chagásica/genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Polimorfismo Genético , Adulto , Idoso , Argentina , Cardiomiopatia Chagásica/patologia , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Canal de Sódio Disparado por Voltagem NAV1.5/metabolismoRESUMO
Liposarcomas, tumores adiposos propios en edad adulta, excepcional en niños, reportándose solo el 6% de los casos en la 2da década de la vida, dos tercios son lipomas, 30% lipoblastomas y 2% liposarcomas. Lactante menor de 10 meses con aumento de volumen progresivo en región gemelar derecha de 3 meses de evolución, masa palpable de 10,5 x 19 cm, renitente, no dolorosa, bordes definidos, circulación colateral, funcionalidad normal. Ecosonogramas: no concluyente. Biopsia insicional: fibrolipomas adultos diferenciados. Biopsia excisional: tumor lipomatoso gigante con patrón mixoide consono con lipoma. Inmunohistoquimico: liposarcoma de bajo grado, positivo para proteína s-100.
Liposarcoma, fatty tumors described in adults, rare in children, reporting only 6% of cases in the 2nd decade of life, two-thirds are lipomas, 30% lipoblastomas and 2% liposarcoma. A 10 month old infant with progressive increase of the right gastrocnemius region with a 3 months evolution, with palpable mass of 10.5 x 19 cm, painless, defined borders, collateral circulation and normal functionality. Ecosonograms: inconclusive. Incisional biopsy reports: differentiated adult fibrolipomas. Excisional biopsy reports: giant lipomatous tumor with myxoid pattern consistent with lipoma. Immunohistochemical reports: low-grade liposarcoma positive for s-100 protein.
RESUMO
Although there is a wide list of free flaps options for soft tissue reconstruction of complex upper extremity injuries, the omental flap has some useful anatomical and biochemical advantages. We report 13 patients who underwent hand or upper extremity reconstruction with omental free flaps. Nine patients had extensive tissue damage, resulting with digital cyanosis and hypothermia, and some of them with areas of cutaneous necrosis, or avulsed tissues with tendons and bones exposed or infected. The remaining four patients had minor extensive tissue damage without circulatory problems. Patient's average age was 34.6 years. Twelve flaps were harvested through laparotomy and one laparoscopically. All flaps were covered with a skin graft. None of the flaps were lost. The average follow-up time was 20 months. There was one major and two minor donor site complications. One patient had minor loss of the skin graft in the recipient site, and two required minor additional surgeries to improve the appearance or function of the hand or upper extremity. There were no late abdominal complications in any patient. The morphological appearance and functional results were favorable in 11 of them, and permitted their reincorporation into society without the need for additional complex surgeries. Only two patients had a poor outcome. Our experience confirms that the omental flap may be a good option for reconstruction of some complex hand and upper extremity injuries.