RESUMEN
Partial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions. Inv dup del(2p) has been reported in patients who manifest the clinical findings of trisomy 2p syndrome. Here we report on a 2-month-old girl with inv dup del(2p) and clinical manifestations that overlap those found commonly in partial 2p trisomy, as previously reported in the literature. Her clinical picture helps delineate the phenotype of 2p duplication disorders.
Asunto(s)
Deleción Cromosómica , Inversión Cromosómica/genética , Cromosomas Humanos Par 2/genética , Análisis Citogenético/métodos , Duplicación de Gen , Trisomía/genética , Bandeo Cromosómico , Cromosomas Artificiales Bacterianos/genética , Hibridación Genómica Comparativa , Resultado Fatal , Femenino , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , EmbarazoRESUMEN
Direct oral anticoagulants or warfarin? Rate or rhythm control? Here's how to determine which strategies to pursue and when.
Asunto(s)
Anticoagulantes/uso terapéutico , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/tratamiento farmacológico , Guías de Práctica Clínica como Asunto , Warfarina/uso terapéutico , Administración Oral , Adulto , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estados Unidos/epidemiologíaRESUMEN
The clinical and biologic relevance of the t(14;18) and features of germinal center (GC) differentiation in diffuse large B-cell lymphoma (DLBCL) remain controversial. The authors examined the association of t(14;18) with GC-associated markers and clinical features in 44 de novo DLBCLs (22 nodal and 22 primary extranodal). CD10, bcl-2, and bcl-6 were expressed in 50%, 62%, and 54% of cases respectively. There were no significant differences in expression of these markers between nodal and extranodal cases. Coexpression of CD10 and bcl-6 was seen in 12 of 41 cases, and was more frequent in nodal than extranodal DLBCL (9 of 21 vs. 3 of 20; P = 0.05). A CD10+/bcl-6+ phenotype was not significantly associated with bcl-2 expression, stage, complete remission rate, or survival. The t(14;18) was found in 7 of 44 (16%) cases (6 nodal, 1 extranodal; P = 0.09). It was associated with a CD10+/bcl-6+ phenotype (5 of 7 vs. 7 of 27; P = 0.015) and a trend toward more frequent bcl-6 expression (6 of 7 vs. 15 of 34; P = 0.09), but no association with bcl-2 expression, CD10, clinical stage, complete remission, or survival. Among nodal or high-stage (III-IV) DLBCL, cases with the t(14;18) showed a trend toward decreased survival (P = 0.12).