The absence of a positive family history (PFH) in 10%-25% of patients poses a diagnostic challenge for autosomal dominant polycystic kidney disease (ADPKD). In the Toronto Genetic Epidemiology Study of Polycystic Kidney Disease, 210 affected probands underwent renal function testing, abdominal imaging, and comprehensive and mutation screening. From this cohort, we reviewed all patients with and without an apparent family history, examined their parental medical records, and performed renal imaging in all available parents of unknown disease status. Subsequent reclassification of 209 analyzed patients revealed 72.2% (151 of 209) with a PFH, 15.3% (32 of 209) with disease, 10.5% (22 of 209) with an indeterminate family history, and 1.9% (four of 209) with PFH in retrospect. Among the patients with cases, we found two families with germline mosaicism and one family with somatic mosaicism. Additionally, analysis of renal imaging revealed that 16.3% (34 of 209) of patients displayed atypical PKD, most of which followed one of three patterns: asymmetric or focal PKD with PFH and an identified or mutation (15 of 34), asymmetric and PKD with proven or suspected somatic mosaicism (seven of 34), or focal PKD without any identifiable or mutation (eight of 34). In conclusion, PKD without an apparent family history may be due to disease, missing parental medical records, germline or somatic mosaicism, or mild disease from hypomorphic and mutations. Furthermore, mutations of a newly identified gene for ADPKD, , and somatic mosaicism need to be considered in the mutation-negative patients with focal disease.
Background: It is undetermined which factors predict return to work after arthroscopic rotator cuff repair. Purpose: To identify which factors predicted return to work at any level and return to preinjury levels of work 6 months after arthroscopic rotator cuff repair. Study Design: Case-control study; Level of evidence, 3. Methods: Multiple logistic regression analysis of prospectively collected descriptive, preinjury, preoperative, and intraoperative data from 1502 consecutive primary arthroscopic rotator cuff repairs, performed by a single surgeon, was performed to identify independent predictors of return to work at 6 months postoperatively. Results: Six months after arthroscopic rotator cuff repair, 76% of patients had returned to work, and 40% had returned to preinjury levels of work. Return to work at 6 months was likely if patients were still working after their injuries but before surgery (Wald statistic [W] = 55, P < .0001), were stronger in internal rotation preoperatively (W = 8, P = .004), had full-thickness tears (W = 9, P = .002), and were female (W = 5, P = .030). Patients who continued working postinjury but presurgery were 1.6 times more likely to return to work at any level at 6 months compared to patients who were not working ( P < .0001). Patients who had a less strenuous preinjury level of work (W = 173, P < .0001), worked at a mild to moderate level post injury but presurgery, had greater preoperative behind-the-back lift-off strength (W = 8, P = .004), and had less preoperative passive external rotation range of motion (W = 5, P = .034) were more likely to return to preinjury levels of work at 6 months postoperatively. Specifically, patients who worked at a mild to moderate level postinjury but presurgery were 2.5 times more likely to return to work than patients who were not working, or who were working strenuously postinjury but presurgery ( p < 0.0001). Patients who nominated their preinjury level of work as “light” were 11 times more likely to return to preinjury levels of work at 6 months compared to those who nominated it as “strenuous” ( P < .0001). Conclusion: Six months after rotator cuff repair, patients who continued to work after injury but presurgery were the most likely to return to work at any level, and patients who had less strenuous preinjury levels of work were the most likely to return to their preinjury levels of work. Greater preoperative subscapularis strength independently predicted return to work at any level and to preinjury levels.
Objectives-How the material properties of the human supraspinatus tendon change following arthroscopic rotator cuff repair is undetermined. Shear wave elastography ultrasound is a relatively new, noninvasive measure of tissue stiffness. We aimed to evaluate any temporal changes in stiffness and/or thickness of supraspinatus tendons in humans following primary arthroscopic rotator cuff repair.Methods-Shear wave elastography was performed at three predetermined regions by a single sonographer at 1-, 6-, 12-, 24-, and 52 weeks postoperatively in 50 consecutive single-row inverted mattress primary arthroscopic rotator cuff repairs. One-way ANOVA with Tukey's correction and Spearman's correlation tests was performed.Results-Of 50 patients, two retore by 1-week and were excluded. Two patients retore at 6 weeks, two at 12 weeks, and one at 24 weeks. The mean tendon stiffness in 48 patients at the tendon footprint increased by 21% (1.32 m/s) at 6 months (P < .001), with the lateral tendon stiffening before the medial tendon. Tendon thickness decreased by 11% (0.6 mm) at 6 weeks (P = .008), then stabilized to 24 weeks. Tendons that were less elastographically stiff at 1 week were more likely to be thinner at 6-weeks (r = .38, P = .010).Conclusions-The data supports the hypothesis that rotator cuff tendons repaired using the single-row inverted-mattress technique take 6 weeks to heal to bone. Unlike in other tendons, there was no hypertrophic healing response. Prior to 6 weeks, the tendon may stretch/thin-out, particularly if its material properties, as assessed by shear wave elastography, are inferior. The material properties of the tendon improved at the tendon insertion site first, then medially out to 12 months post-repair.
Background: Superior capsule reconstruction (SCR) is an option for the treatment of massive, irreparable rotator cuff tears. However, which materials yield the strongest constructs remains undetermined. Purposes: We sought to investigate whether SCR with polytetrafluoroethylene (PTFE) or human dermal allograft (HDA), 2 or 3 glenoid anchors, and suture or minitape resulted in better failure load properties at the patch-glenoid interface. Methods: We conducted a biomechanical study in 30 glenoid-sided SCR repairs in Sawbones models divided into 5 groups. Each was pulled to failure to assess mode of failure, peak load (N), stiffness (N/mm), yield load (N), peak energy (N m), and ultimate energy (N m). The 5 groups were as follows: group 1—PTFE, 2 anchors, and suture; group 2—PTFE, 2 anchors, and minitape; group 3—HDA, 2 anchors, and suture; group 4—HDA, 2 anchors, and minitape; group 5—PTFE, 3 anchors, and minitape. Results: Repairs failed by button-holing of suture/minitape. Group 5 had greater peak load, stiffness, yield load, and peak energy (384 ± 62 N; 24 ± 3 N/mm; 343 ± 42 N; 4 ± 2 N m) than group 3 (226 ± 67 N; 16 ± 4 N/mm; 194 ± 74 N; 2 ± 1 N m) or group 4 (274 ± 62 N; 17 ± 4 N/mm; 244 ± 50 N; 2 ± 1 N m) and greater ultimate energy (8 ± 3 N m) than all other groups. Conclusions: This biomechanical study of SCR repairs in Sawbones models found that yield load was greater in PTFE than HDA, 3 anchors were better than 2, and minitape was no better than suture.
The renin-angiotensin system (RAS) operates within adipose tissue. Obesity-related changes can affect adipose RAS, predisposing to hypertension, type 2 diabetes, and possibly severe COVID-19. We evaluated the in vitro research on human adipose RAS and identified gaps in the literature. Medline (Ovid), Embase (Ovid), Web of Science, Scopus, and 1findr were searched to identify relevant studies. Fifty primary studies met our inclusion criteria for analysis. Expression of RAS components ( n = 14), role in differentiation ( n = 14), association with inflammation ( n = 15) or blood pressure ( n = 7) were investigated. We found (1) obesity-related changes in RAS were frequently studied (30%); (2) an upswing of articles investigating adipose ACE-2 expression since the COVID-19 pandemic; (3) a paucity of papers on AT2R and Ang (1–7)/MasR which counterbalance Ang II/ART1; (4) weight loss lowered adipose ACE-2 mRNA expression; and (5) angiotensin receptor blockers (ARBs) reduced deleterious effects of angiotensin II. Overall, these studies link Ang II/ATR1 signalling to impaired adipogenesis and a pro-inflammatory dysfunctional adipose tissue, with ATR1 blockade limiting these responses. ACE-2 may mitigate Ang II effects by converting it to Ang(1–7) which binds MasR. More work is needed to understand adipose RAS in various pathologic states such as obesity and COVID-19 infection.T.
Background Interposition graft rotator cuff repair is one option for the treatment of massive, otherwise irreparable rotator cuff tears. It is undetermined how different suturing techniques influence morphology at the patch‐tendon interface in interposition rotator cuff repairs, particularly with respect to increased cross‐sectional area at the repair site post‐exposure to cyclic loading, which may influence healing. We aimed to analyze how the morphology of the grafts used in polytetrafluoroethylene (PTFE) interposition rotator cuff repairs differed according to whether the graft was secured using the multiple mattress technique or the weave technique respectively. Methods Twelve PTFE interposition rotator cuff repairs (two groups, n = 6) were cyclically loaded. The thickness, width, cross‐sectional area at the individual patches and at the repair site, and patch elongation were compared between repairs using the ‘multiple mattress’ technique and repairs that used the ‘weave’ technique. Results At all loads, repair site cross‐sectional area and thickness was greater in the weave group than in the multiple mattress group (P<0.05), despite repair site width being greater in the multiple mattress group (P<0.05). No significant differences in elongation were found between the multiple mattress and weave groups. Conclusion Greater repair site cross‐sectional area under cyclic loading was observed in polytetrafluoroethylene interposition rotator repairs that used the weave technique than in those that used the multiple mattress technique. Increased repair site cross‐sectional area in the weave group occurred due to increased thickness and decreased width relative to the multiple mattress group. No differences in cross‐sectional area were found between groups at the individual patches.
BACKGROUND Postinjury multiple organ failure (MOF) is the leading cause of late death in trauma patients. Although MOF was first described 50 years ago, its definition, epidemiology, and change in incidence over time are poorly understood. We aimed to describe the incidence of MOF in the context of different MOF definitions, study inclusion criteria, and its change over time. METHODS Cochrane Library, EMBASE, MEDLINE, PubMed, and Web of Science databases were searched for articles published between 1977 and 2022 in English and German. Random-effects meta-analysis was performed when applicable. RESULTS The search returned 11,440 results, of which 842 full-text articles were screened. Multiple organ failure incidence was reported in 284 studies that used 11 unique inclusion criteria and 40 MOF definitions. One hundred six studies published from 1992 to 2022 were included. Weighted MOF incidence by publication year fluctuated from 11% to 56% without significant decrease over time. Multiple organ failure was defined using four scoring systems (Denver, Goris, Marshall, Sequential Organ Failure Assessment [SOFA]) and 10 different cutoff values. Overall, 351,942 trauma patients were included, of whom 82,971 (24%) developed MOF. The weighted incidences of MOF from meta-analysis of 30 eligible studies were as follows: 14.7% (95% confidence interval [CI], 12.1–17.2%) in Denver score >3, 12.7% (95% CI, 9.3–16.1%) in Denver score >3 with blunt injuries only, 28.6% (95% CI, 12–45.1%) in Denver score >8, 25.6% (95% CI, 10.4–40.7%) in Goris score >4, 29.9% (95% CI, 14.9–45%) in Marshall score >5, 20.3% (95% CI, 9.4–31.2%) in Marshall score >5 with blunt injuries only, 38.6% (95% CI, 33–44.3%) in SOFA score >3, 55.1% (95% CI, 49.7–60.5%) in SOFA score >3 with blunt injuries only, and 34.8% (95% CI, 28.7–40.8%) in SOFA score >5. CONCLUSION The incidence of postinjury MOF varies largely because of lack of a consensus definition and study population. Until an international consensus is reached, further research will be hindered. LEVEL OF EVIDENCE Systematic Review and Meta-analysis; Level III.
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