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Phosphodiesterase 3A (PDE3A) gene mutations have recently been associated with hypertension and brachydactyly syndrome (HTNB). This report shows how the recent recognition of the role of the PDE3A gene in HTNB facilitated the diagnosis of HTNB in a 20-year-old female who could not be diagnosed at her initial presentation at 6 years of age.

Background: Common peroneal nerve (CPN) palsy after primary total knee arthroplasty represents a relatively rare but serious complication. Recently, there has been a growing interest in prophylactic CPN decompression in high-risk patients with significant combined valgus and flexion deformity. This study aimed to examine outcomes at our institution in those undergoing prophylactic CPN decompression at the time of total knee arthroplasty. Methods: A retrospective evaluation of a single-institution experience with selected patients at high risk for CPN palsy who underwent prophylactic nerve decompression through a separate incision at the time total knee arthroplasty was performed between July 1, 2018 and December 31, 2022. Patient demographics as well as perioperative and intraoperative clinical and radiographic measurements were collected and analyzed. Results: A total of 14 patients (15 knees) met our inclusion criteria. The mean preoperative femorotibial angle was 18.6° of valgus (range 13°-22°). The mean preoperative flexion contracture was 4.3° (range 0°-25°). The patients with flexion contractures preoperatively had a mean combined valgus/flexion contracture deformity of 28.8° (range 23°-38°) . There was preservation of nerve function in all knees. No knees required subsequent operative intervention within 90 days of surgery. Conclusions: Early experience with prophylactic CPN release in our high-risk population demonstrates preservation of nerve function in all patients and is reasonable to consider in patients with a large preoperative combined valgus/flexion deformity. Further studies with larger sample sizes would be beneficial in verification of the results with this technique, as well as determining an angular deformity threshold for which CPN release should be considered.

Background: Knee osteoarthritis (OA) is a widespread and debilitating disease that continues to plague patients. Over the past decade, neuromuscular electrical stimulation (NMES) therapy has shown promise in alleviating knee OA-related symptoms. This study sought to evaluate the efficacy and safety of a home-based NMES therapy for reduction of pain, stiffness, and function associated with knee OA. Material and methods: A randomized, sham-controlled, double-blind, multicenter trial was conducted with 12-week follow-up in 156 knee OA patients receiving either home-based NMES therapy or a modified low-voltage NMES therapy. Outcome measures including knee pain, stiffness, and functionality were collected at baseline through week 12 after the therapy. The primary endpoint was the percentage change from baseline (PCFB) in the Visual Analog Scale (VAS) pain for a patient-nominated physical activity. Secondary endpoints included VAS for general knee pain, Western Ontario and McMaster Universities Osteoarthritis Index, Knee Injury and Osteoarthritis Outcome Score Joint Replacement, and isometric quadriceps strength test. Results: A clinically meaningful reduction for VAS Nominated Activity was higher in the per-protocol treatment-compliant NMES group than that in the sham low-voltage NMES group at week 12 (PCFB of 42.8% vs 38.6%, P = .562). This was similarly true for the Western Ontario and McMaster Universities Osteoarthritis Index pain subscale (PCFBs of 36.8% vs 26.6%, P = .038). Similar trends and reductions of pain were observed for VAS General, Knee Injury and Osteoarthritis Outcome Score Joint Replacement Pain subscale, and isometric quadriceps strength. Conclusion: Home-based NMES treatment resulted in a clinically meaningful reduction of knee pain, stiffness, and knee functional improvements at week 12 compared with sham NMES treatment.

Background: Percutaneous transradial placement of the Sentinel cerebral embolic protection device (CEPD) (Boston Scientific) is indicated during transcatheter aortic valve replacement to capture embolic material in patients without excessive tortuosity of the right subclavian/innominate arteries. We aimed to generate a quantitative tortuosity index (TI) from the preoperative computed tomographic angiography (CTA) as an objective measure of tortuosity to determine suitability for CEPD placement. Methods: Eighty-one patients considered for CEPD were included in this study. A centerline of the right subclavian/innominate arteries was generated from preoperative CTA scans. Three-dimensional Cartesian coordinates of landmarks along the centerline were used to calculate curvature. Tortuosity was derived as a change in angulation along each vessel segment. Peak and average TI values were calculated. Results: Sixty-seven patients had CEPD placement attempted. Unsuccessful CEPD placement occurred in 3 of 67 (4.4%) patients. The peak tortuosity for the successful, unsuccessful, and visually tortuous (not attempted) cohorts were 49.66 ± 11.96°/cm, 113.92 ± 5.70°/cm, and 70.44 ± 17.01°/cm, respectively. The peak and average TI of the successful cohort follows a normal distribution. A proposed TI cutoff for safe CEPD was peak tortuosity of 74°/cm and average tortuosity of 30°/cm, 2 standard deviations above the peak and average TI of the successful cohort. All unsuccessful CEPD patients fell outside the boundaries. Half of the visually tortuous patients were within the boundaries but did not have CEPD attempted. Conclusions: A novel TI based on preoperative CTA can assist in selecting patients for transradial CEPD. Our proposed quantitative tool may help to appropriately include and exclude patients for CEPD placement.