Structurally diverse molecular deletions in the beta-globin gene cluster exhibit an identical phenotype on interaction with the beta S- gene

We have characterized a new deletion that increases hemoglobin F synthesis in an American black woman who is doubly heterozygous for this mutation and the beta S-gene. The 5' endpoint is 2.4 +/- 0.1 kilobases (kb) upstream from the delta-globin gene, and the 3' endpoint is 0.2 +/- 0.1 kb downstream from the beta-globin gene; the deletion is 12 kb long. Both members of the Alu moderately repetitive DNA sequence family, normally present upstream from the delta-globin gene, are preserved. The patient is asymptomatic with a mild anemia and 24.8% HbF. The patient's husband and daughter have a similar clinical syndrome, with HbF levels of 22.4% and 25.4%, respectively. Both husband and daughter are doubly heterozygous for the beta S-gene and the Ghana type of hereditary persistence of fetal hemoglobin (HPFH) deletion (HPFH-2). The 5' end of this deletion is in the psi beta-gene, and its total length is more than 70 kb. All three members of the family have normocytic red cells, of which 95% or more are F cells as detected by immunofluorescence. Previous studies have shown that culture of the erythroid progenitors (BFU-E) from both types of these compound heterozygotes in the presence of fetal sheep serum, rich in "switching factor," resulted in complete suppression of HbF synthesis. Although the newly described deletion resembles the Sicilian type of delta beta-thalassemia by its size and preservation of the Alu sequences, the clinical and biological phenotype produced by its interaction with the beta S-gene is very similar to that of the HPFH- type deletion.     

U.S. Public Health Service Response to the 2014–2015 Ebola Epidemic in West Africa: A Nursing Perspective

The 2014–2015 Ebola epidemic in West Africa has been the deadliest Ebola epidemic to date. In response to this deadly epidemic, the U.S. government declared this a top national security priority and members of the Commissioned Corps of the United States Public Health Service were tasked to provide direct patient care to Ebola virus disease patients. Commissioned Corps nurses provided the highest level of care under the most austere conditions. This article discusses the training, ethical dilemmas, and constant risk for potential exposure while working in an Ebola Treatment Unit.     

Two Terms—One Meaning: The Conundrum of Contemporary Nomenclature in Autism

TOPIC:  Autism as a diagnostic construct in the last decade has undergone a process of rapid evolution in the way that it is operationalized. A by-product of the important conceptual shift is that we have been left with two terms, autistic disorder and Asperger's disorder, that point to the same thing. The existence of two terms that cannot be clearly delineated results in confusion and an added element in an already anxiety-laden mix for all those trying to come to terms with the concept of autism.
PURPOSE:  This paper moves beyond contemporary arguments of whether autistic disorder and Asperger's disorder are different entities and uses a case study to consider the mechanism of the confusion caused, and highlight the importance of referent clarity.
SOURCES:  A review of sources in journals and texts related to the topic is included to complement the progressive review of the case study as the clients move through a 1-hour initial consult.
CONCLUSION:  The current diagnostic criteria are ambiguous posing the risk of confusion to parents, clinicians, and researchers. Nurses have an important role in assisting parents' construction of a unified concept of autism clinically, and through research. This paper moves beyond merely acknowledging the confusion that exists by considering the nature of the confusion, and through sharing the experience of one possible way of navigating it.