Because true neutral rotation of the distal fragment alone is not accurate in preventing malrotation deformity of the femur following intramedullary nailing, we recommend measuring AV in both intact and fractured femurs and correcting rotational malalignment if it exists at the time of femoral nailing. Rotational alignment did not change significantly unless we failed to externally reduce the fracture due to a flexion deformity of the proximal fragment.
We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-wide linkage analysis mapped the disease gene to the DFNA5 locus with a maximum two-point log odds score of 5.39 at [theta] = 0 for marker D7S2457. DNA sequencing of DFNA5 revealed a novel heterozygous IVS8+4 A>G substitution in the splice donor site of intron 8. Reverse transcriptase-polymerase chain reaction (RT-PCR) showed skipping of exon 8 in the mutant transcript. This mutation faithfully cosegregated with hearing loss in the family. In addition, the mutation was absent in 100 unrelated control DNA samples of Chinese origin. The IVS8+4 A>G mutation is predicted to create a shift in the reading frame and introduce a stop codon at position 372, thereby resulting in a prematurely truncated DFNA5 protein. Up to date, a total of four mutations in DFNA5 have been reported to lead to hearing impairment, all of them result in skipping of exon 8 at the mRNA level. Our findings provide further support for the hypothesis that DFNA5-associated hearing loss is caused by a very specific gain-of-function mutation.
Hearing was preserved in 11 of the 18 patients (61.1%): 2 of 5 patients whose tumors were larger than 20 mm (40%), and 9 of 13 patients with smaller tumors (69.2%). Among the 10 cases of ear endoscope-assisted surgery, hearing was preserved in 8 (80%). Intraoperative monitoring revealed that the waveform was influenced when the posterior labium of the internal acoustic meatus was ground and drilled, or when traction or electrocoagulation was performed near the opening of the internal acoustic meatus, especially when the internal auditory artery was clamped, the tumor in the internal acoustic meatus was treated, and the arachnoid vessels in the inner-most layer of the tumor surface were clamped or electrocoagulated.
Objective
High-level cognitive performance is important for navigating the complex environment of sport. The executive function domain may be of particular importance because it focuses on flexible thinking and self-control. It is unclear if high-level athletes exhibit similar executive function compared to recreational athletes. Therefore, the purpose of this study was to compare executive function between male and female Division-I collegiate athletes and recreationally active peers.
Methods
Thirty-seven Division-I athletes (16 females, 21 males) and 30 recreationally active college students (19 females, 11 males) participated. Participants completed the Flanker Inhibitory Control and Attention Test (FICA) and Dimensional Change Card Sort Test (DCCS) from the National Institute of Health Toolbox Cognitive Battery on a tablet to assess cognitive flexibility and attention and inhibitory control, respectively. Demographically-corrected T-scores were used for analysis. Two-way ANOVAs compared cognitive performance based on group and sex (p ≤ 0.05).
Results
There was a significant group-by-sex interaction for the FICA (p = 0.005). Female recreational athletes (50.68 ± 10.18) demonstrated higher FICA scores compared to female Division-I athletes (40.88 ± 7.35; p = 0.003, ES = 1.06). Male Division-I athletes (48.67 ± 10.39) also exhibited greater scores compared to female Division-I athletes (p = 0.015, ES = 0.83). There was no significant group-by-sex interaction (p = 0.84), group effect (p = 0.35), or sex effect (p = 0.43) for the DCCS.
Conclusions
Female Division-I athletes demonstrated poorer performance on the FICA compared to male Division-I athletes and recreational female athletes which may indicate a decreased ability to suppress motor responses caused by internal or external distractions. The significance of these findings for mitigating injury risk and improving athletic performance should be explored.
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