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Regional anesthesia relies on a sound understanding of anatomy and the utility of ultrasound in identifying relevant structures. We assessed the ability to identify the point at which the superficial peroneal nerve (SPN) emerges through the deep fascia by ultrasound on 26 volunteers (mean age 27.85 years ± 13.186; equal male: female). This point was identified, characterized in relation to surrounding bony landmarks (lateral malleolus and head of the fibula), and compared to data from 16 formalin‐fixed human cadavers (mean age 82.88 years ± 6.964; equal male: female). The SPN was identified bilaterally in all subjects. On ultrasound it was found to pierce the deep fascia of the leg at a point 0.31 (±0.066) of the way along a straight line from the lateral malleolus to the head of the fibula (LM‐HF line). This occurred on or anterior to the line in all cases. Dissection of cadavers found this point to be 0.30 (±0.062) along the LM‐HF line, with no statistically significant difference between the two groups (U = 764.000; exact two‐tailed P = 0.534). It was always on or anterior to the LM‐HF line, anterior by 0.74 cm (±0.624) on ultrasound and by 1.51 cm (±0.509) during dissection. This point was significantly further anterior to the LM‐HF line in cadavers (U = 257.700, exact two‐tailed P < 0.001). Dissection revealed the nerve to divide prior to emergence in 46.88% (n = 15) limbs, which was not identified on ultrasound (although not specifically assessed). Such information can guide clinicians when patient factors (e.g., obesity and peripheral edema) make ultrasound‐guided nerve localization more technically challenging. Clin. Anat. 32:390–395, 2019. © 2019 Wiley Periodicals, Inc.  相似文献   
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Background: Mutations in BEST1 account for autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare inherited retinal dystrophy with presenile cataracts and incomplete anterior segment development. The long-term clinical findings and visual prognosis of these patients continues to evolve over time.

Materials and Methods: The retina was assessed by fundus photography, fluorescein angiography, and spectral domain optical coherence tomography. Sanger dideoxy chain-termination sequencing identified mutations in BEST1. Bioinformatic tools were used to predict changes in splicing. An in vitro splicing assay was applied to evaluate for altered pre-mRNA splicing.

Results: Long-term follow up of the first ever reported ADVIRC proband revealed progressive foveal atrophy in both eyes 3 decades after his initial presentation. Progressive retinal ischemia, bilateral iris atrophy, and pseudophakodnesis were observed on follow up. The patient was heterozygous for a c.248G?>?A missense mutation in exon 4 of BEST1, affecting a highly conserved transmembrane domain. Although computational prediction models suggest a change in the binding probability of splicing-associated SR proteins, in vitro splicing assays failed to demonstrate an effect of the c.248G?>?A mutation on splicing of BEST1 exon 3 or exon 4.

Conclusions: Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. The causative mutation in this patient falls in the transmembrane domain of the BEST1 protein, with unclear functional consequences. Although previous studies showed alteration in pre-mRNA splicing, in vitro splicing assays failed to demonstrate this in our patient.  相似文献   
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ABSTRACT

Lacrosse has gained substantial popularity across age groups in the past few decades, but epidemiologic sex differences of lacrosse injuries in emergency settings have not been well described. We characterized and described lacrosse-related injuries presenting to United States Emergency Departments (US EDs) using data from the National Electronic Injury Surveillance System (NEISS). From 1997 to 2015, 7,587 lacrosse-related injuries were treated at US EDs (national estimate of 256,358 injuries). Males accounted for 75.5% of injuries. Average age was 16.0 ± 5.0 (range 5–71) years. Sprains/strains (25.4%), contusions/abrasions (23.9%), and fractures (18.7%) were the most common diagnoses. Females sustained a higher proportion of sprains/strains (36.0%) than males (21.9%) (p< 0.01), while males sustained a higher proportion of fractures (injury proportion ratios [IPR]; 21.3% vs. 10.8%, p< 0.01). Similar proportions of concussions were observed (IPR; 6.1% in males, 6.2% among females). Differences in injury patterns may be secondary to differences in rules and equipment between the two sports.  相似文献   
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