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.     

The effects of a 0.12% chlorhexidine-digluconate-containing mouthrinse versus a placebo on plaque and gingival inflammation over a 3-month period

Abstract Several previous studies have evaluated the effects of 0.12% chlorhexidine digluconate (ChD) mouthrinses on plaque and gingival inflammation. However, previously, none have been based in general dental practices. The aim of this study was to evaluate the potential to conduct controlled periodontal clinical trials in co-operation with general dental practitioners (gdps). The project took place in 5 general dental practices in the South of England. 121 healthy subjects (24 at 4 sites and 25 at the 5th). aged 18-65 years, mean 35 ± 12) years participated in a double-blind, randomised study during which they received full mouth assessments for plaque and gingival bleeding at baseline, 6 and 12 weeks. 60 subjects were randomly asigned to use the 0.12% ChD mouth wash and 6i the placebo. The assessments were carried out by 5 gpds, who had previously achieved inter-examiner κ scores of 0.78–0.85 (mean 0.81) for the plaque index (PlI), and of 0.73–0.94 (mean 0.87) for a modified gingival index (mGI), and who maintained κ scores of 0.51–0.90 for PII and of 0.73–1.00 for mGI during the 12 months required to complete the study. 98 subjects (48 ChD and 50 placebo) completed the study. Even though the baseline levels of plaque and gingivitis were low, by week 12, mean whole mouth piaque score of the ChD mouthwash users had fallen from 1.33 at baseline to 0.96 and was significantly lower (p < 0.001) than for the placebo users, 1.31 at baseline to 1.13. Whole-mouth gingival bleeding score fell from 0.56 to 0.42 in the ChD mouthwash group but was unchanged (0.54–0.55) in the placebo group. A subsidiary data analysis which considered the effects at sites indicated that within these overall differences, the ChD users experienced almost 2× the reduction from plaque score 2 at baseline at proximal molar sites over a 12-week period (50.6% ChD versus 27.6% placebo). It was concluded that 0.12% ChD mouthwash reduced plaque accumulation fay 28% and gingival inflammation by 25% over a 12–week period, that it is feasible for a group of gdps to maintain high levels of inter–examiner consistency in the use of PlI and mGI, that it is also feasible to carry out such a multicentre study in general dental practice, and that the use of mean mouth scores per subject to analyse the effects of mouthrinses may well mask variations in response throughout the mouth.     

Lumbar Puncture Ordering and Results in the Pediatric Population: A Promising Data Source for Surveillance Systems

Background: The Centers for Disease Control and Prevention is incorporating laboratory data into real-time surveillance systems. When normal patterns of laboratory test orders and results are modeled, aberrations can be detected. Because many test orders are available electronically well before results, atypical patterns of test ordering may signal outbreaks.
Objectives: The authors sought to characterize baseline patterns in the ordering and early results of lumbar punctures, motivated by the possibility of using these data for real-time surveillance for early detection of meningitis or encephalitis outbreaks.
Methods: Retrospective cohorts of pediatric emergency department patients at a single hospital (1993–2003) and from the National Hospital and Ambulatory Medical Care Survey (1992–2000) were used for analysis.
Results: Test ordering exhibits seasonal patterns, with monthly peaks in January and August (p < 0.0001). For the hospital cohort, the rate of cerebrospinal fluid pleocytosis exhibits seasonal patterns (p < 0.0001), with a peak from August to October. This is strongly associated with the rate and pattern of clinical neurologic disease (p < 0.0001). A long-term secular decline in daily test ordering is evident, dropping from 5.3 to 2.9 in the hospital sample, and from 371.8 to 185.3 in the national sample (p < 0.001). The long-term rate of pleocytosis has declined (p < 0.0001), though the yield of testing for pleocytosis has improved (p = 0.0104).
Conclusions: Laboratory test patterns correspond with those of clinical disease and are a promising source of surveillance data. Using such data for real-time monitoring requires specific adjustments for patient age, periodicities, and secular trends.