Long-term clinical outcomes of patients with hematologically unexplained cytopenia after routine assessment: A single center study.

Objective: We investigated mortality and long-term development of malignant hematological disease, cancer, liver-, renal-, and rheumatic disease in patients with unexplained cytopenia (UC).

Methods: We screened all patients referred to the outpatient clinic at the Department of Hematology, Rigshospitalet, Copenhagen, with a suspected myeloid neoplasm from June 2009 to the end of 2012. Through registry linkage, we obtained information on hospital-based ICD-10 diagnoses and survival.

Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature.

Objective: Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. Mutations in the NKX2-5 gene, located on chromosome 5, are associated with ASD, often combined with conduction disturbances, cardiomyopathies, complex CHD, and sudden cardiac death as well. Here, we show that NKX2-5 mutations primarily occur in ASD patients with conduction disturbances and heritable ASD.