Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in endoglin (ENG) or activin A receptor type II-like 1 (ACVRL1) account for around 90% of HHT patients, 10% of those are large deletions or duplications. We report here the first observation of two distinct, large ENG deletions segregating in one pedigree. An ENG exon 4-7 deletion was observed in a patient with HHT. This deletion was identified in several affected family members. However, some affected family members had an ENG exon 3 deletion instead. These deletions were detected by multiplex ligation-dependent probe amplification and confirmed by mRNA sequencing and an oligo-CGH array. Linkage analysis revealed that one individual with the exon 3 deletion inherited the same chromosome from his mother who has the exon 4-7 deletion. This finding has important clinical implications because it shows that targeted family-specific mutation analysis for exon deletions could have led to the misdiagnosis of some affected family members.

[A giant tubal myoma in a 20-year old pregnant woman]. / Olbrzymi miesniak jajowodu u 20-letniej ciezarnej.

In a 20-year-old pregnant woman a giant tubal myoma was diagnosed and treated surgically in the first trimester of pregnancy. The further course of the disease was uneventful. The patient was delivered at term without complications, the newborn was in good health. The available literature suggested that tubal myoma is a rare condition.

Health promotion behaviors in nursing students.

The purpose of the study was to determine if there were significant differences in wellness behaviors in three groups of nursing students. One group of students had completed a course entitled Health Promotion Behaviors, one group had participated in a personalized health assessment program in an interdisciplinary health clinic, and one group that served as the control had no unusual treatment. The intent was to determine if either teaching strategy was more effective in promoting health behaviors. The Lifestyle Assessment Questionnaire as well as physiological parameters, such as apical pulse and systolic and diastolic blood pressure, and a height/weight ratio were used to measure wellness behaviors. While the findings revealed significant differences in the treatment groups with regard to exercise and pulse rate, the overall trend was for wellness behaviors to actually decrease in all groups over the course of six months. The results are discussed with their implications for nursing education.

Defining scholarly activity in nursing education.

In an attempt to address the question of what activities should be considered scholarly, thereby warranting their inclusion in a nursing faculty evaluation model, a study was undertaken which surveyed all National League for Nursing accredited baccalaureate educational programs. The items in the instrument were generated utilizing the Delphi method and a pilot study established inter-respondent reliability. A response rate of 73% was attained. Scholarly activity was considered highly important in evaluation for promotion and tenure in over 50% of the schools. There were distinct differences in the activities deemed scholarly when respondents were broken down into categories such as size and type of institution and the existence or non-existence of graduate nursing programs in the same institution.