ABSTRACT
This case presents a somewhat unique and different phenotype of hereditary spastic paraplegia from previously reported kinase D-interacting substrate of 220 kDa (KIDINS220) gene mutation-related disease. We report a unique putative causative heterozygous mutation in KIDINS220 in a pure hereditary spastic paraplegia (HSP) patient expanding the HSP group further. We also deliberate on how our case was different from prior KIDINS220-related pathologies including spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome, and the observation of KIDINS220 and aquaporin-4 (AQP4) downregulation in the ventricular ependymal lining of idiopathic normal pressure hydrocephalus (iNPH) patients. These findings warrant further investigations of the biology of KIDINS220. With the advent of new gene editing technologies like Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR-associated protein 9 (Cas9), variants such as ours provide an opportunity for targeted precision medicine.
ABSTRACT
Purpose: To determine whether there is a difference in clinical results among open subpectoral (SB), arthroscopic low-in-groove suprapectoral (SP), and arthroscopic top-of-groove (TOG) locations in terms of patient-reported outcome measures for biceps tenodesis (BT) procedures using a global, self-reporting registry. Methods: We identified patients who underwent BT surgery in the Surgical Outcomes System registry. The inclusion criteria were isolated primary surgical procedures for BT, excluding patients with rotator cuff and labral repairs. Additional search requirements included repair location and 100% compliance with pretreatment and 2-year follow-up surveys. This study measured clinical outcomes comparing the 3 aforementioned techniques using the American Shoulder and Elbow Surgeons (ASES) score, visual analog scale (VAS) pain score, and Single Assessment Numeric Evaluation (SANE) score before treatment and at 3 months, 6 months, 1 year, and 2 years postoperatively. In addition, postoperative VAS pain scores were collected at 2 and 6 weeks. Statistical analysis was conducted using analysis of variance (Kruskal-Wallis test) and the Wilcoxon test. Results: A total of 1,923 patients from the Surgical Outcomes System registry qualified for the study; of these, 879 underwent the SB technique, 354 underwent the SP technique, and 690 underwent the TOG technique. There was no statistically significant difference in the demographic characteristics among the groups except that the TOG group was older: 60.76 years versus 54.56 years in the SB group and 54.90 years in the SP group (P < .001). In all groups, the ASES score statistically improved from before treatment (mean, 49.29 ± 0.63) to 2 years postoperatively (mean, 86.82 ± 0.80; P < .05). There were no statistically significant differences among the 3 groups in the VAS, ASES, and SANE scores at all time points (P > .12) except for the VAS score at 1 year (P = .032) and the ASES score at 3 months (P = .0159). At 1 year, the mean VAS score in the SB group versus the TOG group was 1.146 ± 1.27 versus 1.481 ± 1.62 (P = .032), but the minimal clinically important difference (MCID) was not met. The 3-month ASES Index scores in the SB, SP, and TOG groups were 68.991 ± 18.64, 66.499 ± 17.89, and 67.274 ± 16.9, respectively (P = .0159), and similarly, the MCID was not met. At 2 years, the ASES scores in the SB, SP, and TOG groups improved from 49.986 ± 18.68, 49.54 ± 16.86, and 49.697 ± 7.84, respectively, preoperatively to 86.00 ± 18.09, 87.60 ± 17.69, and 86.86 ± 16.36, respectively, postoperatively (P > .12). Conclusions: The SB, SP, and TOG BT procedures each resulted in excellent clinical improvement based on patient-reported outcome measures from a global registry. On the basis of the MCID, no technique was clinically superior to the other techniques in terms of VAS, ASES, or SANE scores at any time point up to 2 years. Level of Evidence: Level III, retrospective comparative study.