Generalized,severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long‐term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.     

Bone mineral density testing in healthy postmenopausal women. The role of clinical risk factor assessment in determining fracture risk.

The ease of measurement and the quantitative nature of bone mineral densitometry (BMD) is clinically appealing. Despite BMD's proven capability to stratify fracture risk, data indicate that clinical risk factors provide complementary information on fracture susceptibility that is independent of BMD. Methods to quantify fracture risk using both clinical and BMD variables would have great appeal for clinical decision-making. We describe a procedure for quantifying hip fracture risk (5-yr and remaining lifetime) based on (1) the individual's age alone (base model, assuming average clinical risk factors and bone density), (2) incorporation of multiple patient-specific clinical risk factor data in the base model, and (3) incorporation of both patient-specific clinical risk factor data and BMD results.     

Septal rupture repaired in the acute stage of myocardial infarction. Clinical, hemodynamic and angio-coronarography findings in the evaluation of surgical risk

Between 1977 and 1987, 27 consecutive patients (16 men, 11 women, mean age 66 years, range 54 to 75 years) with ventricular septal rupture complicating acute myocardial infarction underwent surgical repair. The purpose of this retrospective study was to analyse the post-operative mortality factors from clinical, haemodynamic and operative data in all patients and also from coronary angiographic data in 23/27 patients whose haemodynamic status allowed this type of exploration. Seventeen patients (63 p. 100) died during the first post-operative month, 10 survived and were discharged. Factors that influenced the prognosis were: (1) inferiorly-located necrosis associated with a 75 p. 100 mortality rate (9 out of 12 patients), as opposed to 53 p. 100 (8 out of 15 patients) with anterior necrosis; (2) right ventricular dysfunction, observed in 83 p. 100 of patients with inferior necrosis and 53 p. 100 with anterior necrosis, which was responsible for 7 out of 9 deaths in the inferior necrosis subgroup and contributed to 3 out of 8 deaths in the anterior necrosis subgroup; this established a cause-effect relationship between right ventricular function and the overmortality of patients with inferior necrosis; (3) independently of the haemodynamic status, two- and three-vessel lesions (56 p. 100 of all lesions) which had an 84 p. 100 mortality rate as opposed to 40 p. 100 with one-vessel lesions; (4) the presence of a state of shock which was associated with a 78 p. 100 mortality rate as opposed to 55 p. 100 in patients without shock. We conclude that when permitted by the patient's haemodynamic status coronary angiography should be part of the pre-operative evaluation to assess the operative risk and guide the surgical procedure.     

RN-BSN programs: associate degree and diploma nurses' perceptions of the benefits and barriers to returning to school.

The nursing profession is facing a serious shortage in all areas including BSN completion programs. The purpose of this study was to explore associate degree and diploma nurses' perceptions of the benefits and barriers to RN-BSN programs. In addition, factors that would facilitate degree completion in academia and work environments were examined.