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 assess the short-term effi cacy of a 4-week ultrasound curriculum taught by American fi rst-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 profi ciency and to evaluate the physicians' perceptions of the student-instructors' depth of knowledge and skill in point of care ultrasound.
Hyperhidrosis impairs quality of life (QOL) in hidradenitis suppurativa (HS) patients and may exacerbate HS. However, there is limited literature on whether hyperhidrosis treatments improve HS disease. To systematically review literature on efficacy and tolerability of hyperhidrosis treatments in HS patients. In May 2021, MEDLINE and EMBASE databases were systematically searched by two reviewers per PRISMA guidelines for articles on hyperhidrosis and HS. Sixteen articles met inclusion criteria (2 randomized controlled trials [RCTs], one case-control study, three cross-sectional studies, 10 case-studies/ series), encompassing 252 HS patients across studies. They examined botulinum toxin A (BTX-A) (n = 6) and B (BTX-B) (n = 1), suction-curettage (n = 1), diode laser (n = 1), and microwave-based energy device (MED) (n = 3). Overall, BTX treatments improve HS severity, QOL, hyperhidrosis, and were well-tolerated. Suction-curettage did not improve disease. One HS patient tolerated diode laser well, with improvement in sweating and HS. One RCT studying MED was discontinued due to adverse events. Two studies reported MED-induced HS. BTX was overall helpful in HS patients, including in patients without concomitant hyperhidrosis. However, more prospective studies are needed to examine its utility in HS. There is potential harm of MEDs in HS. Most studies examining hyperhidrosis treatments in HS patients are low level of evidence. Larger RCTs should examine the efficacy and tolerability of hyperhidrosis treatments in HS.
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