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.     

Penicillium piceum infection: diagnosis and successful treatment in chronic granulomatous disease.

Infections due to Penicillium species other than P.marneffei are rare. We identified a boy with X-linked chronic granulomatous disease (X-CGD) with a pulmonary nodule and adjacent rib osteomyelitis caused by Penicillium piceum. The only sign of infection was an elevated sedimentation rate. P. piceum was isolated by fine needle aspirate and from excised infected tissues. Surgical removal and one year of voriconazole treatment were very well tolerated and led to complete recovery. Microbiological, microscopic and molecular studies support the fungal diagnosis. P. piceum should be considered as a relevant pathogen in immunocompromised patients.     

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.     

Mood change and empathy decline persist during three years of internal medicine training.

PURPOSE: To examine longitudinal changes in mood and empathy over the course of the internal medicine residency. METHOD: The authors conducted a cohort study of 61 residents who completed the Profile of Mood States (POMS) and the Interpersonal Reactivity Index (IRI) at six time points during their internal medicine residency at a university-based program. (POMS was administered five times, and IRI was administered six times.) The main outcomes measured were trends in mood disturbances and multiple domains of empathy over the three-year residency, and comparisons to norms. RESULTS: Response rates varied from Time 1 to Time 6 (98%, 72%, 79%, 79%, 94%, and 95%, respectively). Interns had better scores on four POMS subscales: Depression-Dejection (p = .0031), Anger-Hostility (p < .0001), Fatigue-Inertia (p < .0001), and Vigor-Activity (p < .0001) compared with later administrations, especially midinternship. By the end of residency all POMS scores were returning towards baseline (effects sizes in the .20 s), but only depression was no longer significantly different. IRI scores showed the decline in Empathic Concern remained over residency whereas Personal Distress peaked midinternship year but approached baseline at the end of residency. Compared with the general population, the graduating residents were less tense, depressed, and confused. Personal Distress was significantly lower than the norm group. CONCLUSIONS: Internal medicine residency presents challenges resulting in common mood disturbances. Although graduating residents appear to be better off than the population norms, some domains of their mood disturbances and empathy never fully recover from their internship year.