Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the disease. Among these include mutations in the genes SERPINH1 and FKBP10, which encode the type I procollagen chaperones HSP47 and FKBP65, respectively, and predominantly produce a moderately severe form of OI. Little is known about the biochemical consequences of the mutations and how they produce OI. We have identified a new OI mutation in SERPINH1 that results in destabilization and mislocalization of HSP47 and secondarily has similar effects on FKBP65. We found evidence that HSP47 and FKBP65 act cooperatively during posttranslational maturation of type I procollagen and that FKBP65 and HSP47 but fail to properly interact in mutant HSP47 cells. These results thus reveal a common cellular pathway in cases of OI caused by HSP47 and FKBP65 deficiency.

Background

The purpose of this study was to use point-of-care ultrasound (POCUS) to investigate the relationship between tobacco smoke exposure and the characteristics of the common carotid artery (CCA). The effect of both primary and secondary smoking on CCA properties was evaluated.

Methods

We performed a prospective cross-sectional study across 20 primary care clinics in Bandung, West Java, Indonesia in July 2016. Point of care ultrasound was performed on a convenience sample of Indonesian patients presenting to clinic. The CCA wall stiffness and carotid intima-media thickness (CIMT) were measured during diastole and systole. These measurements were correlated with smoke exposure and cardiovascular disease.

Results

We enrolled 663 patients in the study, with 426 patients enrolled in the smoking category and 237 patients enrolled in the second-hand smoke category. There was an overall positive correlation with the measured lifestyle factors and the ultrasound-measured variables in the group of individuals who smoked. For all variables, age seemed to contribute the most out of all of the lifestyle factors for the positive changes in CIMT and CCA wall stiffness.

Conclusion

Our data yielded correlations between CCA properties and cardiovascular risk, as well as between CIMT and arterial stiffness. We were also able to demonstrate an increase in thickness of the CIMT in patients who have been exposed by tobacco through the use of ultrasound. Further large scale studies comparing patients with multiple cardiac risk factors need to be performed to confirm the utility of ultrasound findings of cardiovascular disease and stroke.

BACKGROUND:The purpose of this study was to assess the short-term efficacy of a 4-week ultrasound curriculum taught by American first-year medical students to general practitioners working in public health care clinics, or puskesmas, in Bandung, Indonesia. METHODS:We performed a prospective, observational study of Indonesian health care practitioners from public clinics in Bandung, Indonesia. These practitioners were enrolled in a 4-week ultrasound training course taught by first-year American medical students. A total of six sessions were held comprising of 38 ultrasound milestones. A pre-course and post-course written exam and practical exam was taken by each participant. RESULTS:We enrolled 41 clinicians in the course. The average pre-course exam score was 35.2% with a 2.4% pass rate, whereas the average post-course exam score was 82.0% with a 92.7% pass rate. The average practical score at the completion of the course was 83.2% (SD=0.145) with 82.9% of the class passing (score above 75.0%). CONCLUSION:Our data suggests that first-year medical students can effectively teach ultrasound to physicians in Indonesia using a 4-week intensive ultrasound training course. Future studies are needed to determine the amount of training required for proficiency and to evaluate the physicians' perceptions of the student-instructors' depth of knowledge and skill in point of care ultrasound.