Israel Medical Association Journal

Background: Primary pulmonary hypertension is a rare disorder, characterized by progressive pulmonary hypertension and right heart failure. It may be familial or sporadic. Mutations in bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor-beta receptor superfamily of receptors, underlie many cases of the disorder.

Objectives: To perform molecular analysis of a patient with familial PPH[1] and provide her and her family with suitable genetic counseling.

Methods: DNA was extracted from 10 ml whole blood, and the BMPR2 gene was screened for mutations. Individual exons were amplified by polymerase chain reaction and sequenced. Mutation confirmation and molecular characterization of additional family members was performed using restriction enzyme analysis followed by appropriate genetic counseling.

Results: We identified a novel T to C missense mutation expected to result in substitution of arginine for a conserved cysteine in the ligand-binding domain of BMPR2. Screening of family members demonstrated the presence of the mutation in the father and a younger asymptomatic sister of the index patient.

Conclusions: Molecular diagnosis in PPH allows for identification of at-risk family members and raises the option of earlier diagnosis and possibly instituting earlier treatment in affected individuals. However, molecular screening of asymptomatic family members raises difficult ethical questions that can only be resolved by conducting large multicenter prospective studies in BMPR2 carriers.

Background: Erysipelas is a skin infection generally caused by group A streptococci. Although penicillin is the drug of choice, some physicians tend to treat erysipelas with antibiotics other than penicillin.

Objectives: To define the pattern of antibiotic use, factors affecting antibiotic selection, and outcome of patients treated with penicillin versus those treated with other antimicrobial agents.

Methods: A retrospective review of charts of adult patients with discharge diagnosis of erysipelas was conducted for the years 1993-1996.

Results: The study group comprised 365 patients (median age 67 years). In 76% of the cases infection involved the leg/s. Predisposing condition/s were present in 82% of cases. Microorganisms were isolated from blood cultures in only 6 of 176 cases (3%), and Streptococcus spp. was recovered in four of these six patients. Cultures from skin specimens were positive in 3 of 23 cases. Penicillin alone was given to 164 patients (45%). Other antibiotics were more commonly used in the second half of the study period (P < 0.0001) in patients with underlying conditions (P = 0.06) and in those hospitalized in the dermatology ward (P< 0.0001). Hospitalization was significantly shorter in the penicillin group (P= 0.004). There were no in-hospital deaths.

Conclusions: We found no advantage in using antibiotics other than penicillin for treating erysipelas. The low yield of skin and blood cultures and their marginal impact on manage­ment, as well as the excellent outcome suggest that this infection can probably be treated empirically on an outpatient basis.