RESUMO
Background: Studies have shown that higher pitch counts are directly related to a greater incidence of elbow and shoulder pain among youth baseball pitchers. Purpose/Hypothesis: The purpose of this study was to examine the effect of different pitching restriction rules on the number of pitches thrown in youth baseball leagues. We hypothesized that more pitches would be thrown in leagues with inning restrictions versus leagues with pitch count restrictions as well as in leagues with a longer mound distance (from pitching mound to home plate). Study Design: Cohort study; Level of evidence, 2. Methods: Pitch count data were collected for 2 consecutive years over a 10-week season from 3 different leagues of 9- to 12-year-old baseball players in a single city. The Eastern league had a pitch count restriction and 46-ft (14.02-m) mound distance. The Southeastern and South leagues' pitching restrictions were based on innings per week. The Southeastern league had a 50-ft (15.24-m) mound distance, while the South league had a 46-ft mound distance. Comparisons of total seasonal pitches thrown were made of the 3 highest-volume pitchers on each team. League averages for each value were then compared utilizing analysis of variance with Bonferroni post hoc analysis. The number of pitchers in each league who threw >600 pitches per season was compared using the chi-square test. Results: No significant difference in seasonal pitch counts or innings pitched was noted between the Eastern and South leagues, which differed only in their pitching restrictions. The Southeastern league, with a longer mound distance, was found to have higher seasonal pitch counts per thrower (598 ± 195 pitches) than the South league (463 ± 198 pitches) for the 3 highest-volume throwers for each team (P = .004). The Southeastern league also had a significantly larger number of pitchers who threw >600 pitches per season (33 vs 20 for Eastern and 13 for South; P = .009). Conclusion: There was no significant difference in seasonal pitch counts when the leagues in this study differed based on pitching restrictions. However, the league with a greater mound distance (Southeastern) had higher seasonal pitch counts for the highest-volume throwers. Pitching restrictions based on pitch counts, as opposed to innings, may be advisable.
RESUMO
BACKGROUND: In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and son with a WFS1 variant NM_006005.3:c.2508 G > T, p. (Lys836Asn) detected with next-generation sequencing, which is novel at the nucleotide level. In this Greek family, the proband and mother had sensorineural hearing loss and mild non-progressive vision loss with optic nerve atrophy. An initial optic atrophy panel that did not test for WFS1 was unremarkable, but a broader inherited retinal dystrophy panel found the WFS1 variant. CONCLUSION: This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.
