112 research outputs found

    Osteoporose assoziierte Frakturen am Stammskelett

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    Jumper's fracture of the sacrum: a novel and reproducible way for successful reduction and fixation

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    PURPOSE Surgical treatment of jumper's fractures is a highly demanding situation for the surgeon due to its rareness and frequent association with severe concomitant injuries. There is no current consensus regarding a standard treatment approach, thus reducing quality of care. Our objectives were to describe, apply and assess a novel surgical technic. METHODS The presented research is an observational retrospective study of patients who underwent the described novel surgical intervention in a level 1 trauma center. We conducted analyses of the patient cohort using patient-related outcome measures at least 1 year after surgery, as well as investigating pain, quality of life and the clinical effectiveness of the procedure. RESULTS A total of 24 patients (17 male and 7 female) with an average age 47 ± 16.3~years were included. ISS scores ranged from 9 to 66 with a mean ISS of 40 ± 15. Clinical scores exist of 15 out of 24 patients (62.5%). The mean VAS score was 53.7 ± 12.9. The mean EQ-5D index was 0.68 ± 0.22. Significant negative correlation existed between the ISS value and the EQ-5D index (r = - 0.704; p < 0.005) and EQ-5D VAS (r = - 0.809; p < 0.001). Anatomical reduction was achieved in all patients (n = 24). Radiological follow-up was performed in 58%. CONCLUSION We present one of the largest studies with operatively treated jumper's fractures of the sacrum. The technique is capable of reproducibly restoring the physiological anatomy of the patient and allows pain-adapted mobilization

    Aortic remodelling in Fabry disease

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    Aims To evaluate thoracic aortic dilation in patients with Fabry disease (FD). Methods and results A cohort of 106 patients with FD (52 males; 54 females) from three European centres were studied. The diameter of the thoracic aorta was assessed at three levels (sinus of Valsalva, ascending aorta, and descending aorta) using echocardiograms and cardiovascular magnetic resonance imaging. Aortic dilation at the sinus of Valsalva was found in 32.7% of males and 5.6% of females; aneurysms were present in 9.6% of males and 1.9% of females. No aortic dilation was observed in the descending aorta. There was no correlation between aortic diameter at the sinus of Valsalva and cardiovascular risk factors. Conclusion Fabry disease should be considered as a cardiovascular disease that affects the heart and arterial vasculature, including the thoracic aorta. Thus, patients with FD should be closely monitored for the presence, and possible progression and complications of aortic dilation. Clinical Trial Registration: Protocol 101/01. Ethics committee, Faculty of Medicine, Lausann

    Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

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    BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease. We evaluated interventricular septum thickness (IVST), left ventricular posterior wall thickness (LVPWT), estimated glomerular filtration rate and severe clinical events.ResultsIn p.N215S males, mildly abnormal mean IVST and LVPWT values were observed in patients aged 25-34 years, and values gradually increased with advancing age. Mean values were similar to those of classic males. In p.N215S females, these abnormalities occurred primarily in patients aged 55-64 years. Severe clinical events in p.N215S patients were mainly cardiac (males 31%, females 8%) while renal and cerebrovascular events were rare. Renal impairment occurred in 17% of p.N215S males (mostly in patients aged 65-74 years), and rarely in females (3%).Conclusionp.N215S is a disease-causing mutation with severe clinical manifestations found primarily in the heart. Cardiac involvement may become as severe as in classic Fabry patients, especially in males

    How relevant is lumbar bone mineral density for the stability of symphyseal implants? A biomechanical cadaver study

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    PURPOSE Osteoporotic bone tissue appears to be an important risk factor for implant loosening, compromising the stability of surgical implants. However, it is unclear whether lumbar measured bone mineral density (BMD) is of any predictive value for stability of surgical implants at the pubic symphysis. This study examines the fixation strength of cortical screws in human cadaver specimens with different BMDs. METHODS The lumbar BMD of ten human specimens was measured using quantitative computed tomography (qCT). A cut-off BMD was set at 120~mg Ca-Ha/mL, dividing the specimens into two groups. One cortical screw was drilled into each superior pubic ramus. The screw was withdrawn in an axial direction with a steady speed and considered failed when a force decrease was detected. Required force (N) and pull-out distance (mm) were constantly tracked. RESULTS The median peak force of group 1 was 231.88~N and 228.08~N in group 2. While BMD values differed significantly (p < 0.01), a comparison of peak forces between both groups showed no significant difference (p = 0.481). CONCLUSION Higher lumbar BMD did not result in significantly higher pull-out forces at the symphysis. The high proportion of cortical bone near the symphyseal joint allows an increased contact of pubic screws and could explain sufficient fixation. This condition is not reflected by a compromised lumbar BMD in a qCT scan. Therefore, site-specific BMD measurement could improve individual fracture management

    P-475: Uncontrolled hypertension in Fabry disease

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    Fabry disease is a x-linked lysosomal storage disease leading to early death related to renal, cardiac, and cerebrovascular disease. Therefore, proper diagnosis and therapy of elevated blood pressure may improve morbidity and mortality of these patients. However, the prevalence of uncontrolled hypertension in Fabry disease is unknown. We examined blood pressure of patients with Fabry disease using a large international database, the Fabry Outcome Survey (FOS). We defined uncontrolled hypertension as a systolic blood pressure (SBP) ≥130, and/or a diastolic blood pressure (DBP) ≥ 80 mmHg (threshold for blood pressure control in renal disease, JNC7). We used the short MDRD-GFR formula for assessment of renal function, and we classified chronic kidney disease according to K/DOQI. Among 459 patients with Fabry disease, 306 had blood pressure readings entered in the database. Mean SBP was 124.6 ± 16.9 mmHg and mean DBP was 73.6 ± 11.7 mmHg (mean age: 38.4 ± 15.6 years, 142 females, 164 males). Fourty-three percent of men and and 28% of women showed uncontrolled hypertension. In 291 patients both, blood pressure readings and GFR estimates, were available. In patients with normal GFR (>90 ml/min/1.73m2) mean SBP was 119.5 ± 15.6 mmHg and mean DBP was 69.7 ± 11.1 mmHg (n=120). In patients with mild decreased GFR (60-89 ml/min/1.73m2) mean SBP was 126.7 ± 15.9 mmHg and mean DBP was 75.0 ± 11.0 mmHg (n=110). In patients with moderate decreased GFR (30-59 ml/min/1.73m2) mean SBP was 132.7 ± 20.8 mmHg and mean DBP was 79.0 ± 13.3 mmHg (n=41). In 70 patients blood pressure readings were available before start of enzyme replacemen therapy (ERT) with agalsidase alfa (Replagal, TKT 5S Europe, 0.2 mg/kg bodyweight fortnightly i.v.), in 87 at 12 months and in 76 at 24 months of therapy. At baseline, at 12 and at 24 months of ERT, 39%, 30% and 42%of the patients presented with uncontrolled hypertension, respectively. Our study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus, there is need for improvement of blood pressure control in these patients. Am J Hypertens (2004) 17, 206A-206A; doi: 10.1016/j.amjhyper.2004.03.54

    Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease

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    Background: Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood pressure (BP). The prevalence of uncontrolled hypertension, as well as the effect of enzyme replacement therapy on BP, in patients with Fabry disease is unknown. Methods: We examined uncontrolled hypertension (systolic BP [SBP] ≥130 mm Hg or diastolic BP [DBP] ≥80 mm Hg) among 391 patients with Fabry disease who were participating in the Fabry Outcome Survey (FOS). Results: Uncontrolled hypertension was present in 57% of men and 47% of women. In patients with chronic kidney disease (CKD) stage 1 (n100), median SBP was 120 mm Hg and median DBP was 74 mm Hg. In patients with CKD stage 2 (n172), median SBP was 125 mm Hg and median DBP was 75 mm Hg. In patients with CKD stage 3 (n63), median SBP was 130 mm Hg and median DBP was 75 mm Hg. There was a significant decrease in both SBP and DBP during a 2-year course of enzyme replacement therapy. Conclusions: This study revealed a high prevalence of uncontrolled hypertension among patients with Fabry disease. Thus there is a need to improve BP control and renoprotection in patients with Fabry diseas

    Strain control of hybridization between dark and localized excitons in a 2D semiconductor

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    The interface between a ferro- or ferrimagnetic insulator and a normal metal can support spin currents polarized collinear with and perpendicular to the magnetization direction. The flow of angular momentum perpendicular to the magnetization direction (“transverse” spin current) takes place via spin torque and spin pumping. The flow of angular momentum collinear with the magnetization (“longitudinal” spin current) requires the excitation of magnons. In this article we extend the existing theory of longitudinal spin transport [Bender and Tserkovnyak, Phys. Rev. B 91, 140402(R) (2015)] in the zero-frequency weak-coupling limit in two directions: We calculate the longitudinal spin conductance nonperturbatively (but in the low-frequency limit) and at finite frequency (but in the limit of low interface transparency). For the paradigmatic spintronic material system YIG|Pt, we find that nonperturbative effects lead to a longitudinal spin conductance that is ca. 40% smaller than the perturbative limit, whereas finite-frequency corrections are relevant at low temperatures ≲100K only, when only few magnon modes are thermally occupied

    Strain control of hybridization between dark and localized excitons in a 2D semiconductor

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    Mechanical strain is a powerful tuning knob for excitons, Coulomb-bound electron-hole complexes dominating optical properties of two-dimensional semiconductors. While the strain response of bright free excitons is broadly understood, the behavior of dark free excitons (long-lived excitations that generally do not couple to light due to spin and momentum conservation) or localized excitons related to defects remains mostly unexplored. Here, we develop a technique capable of straining pristine suspended WSe2 kept at cryogenic temperatures up to 3\% to study the strain behavior of these fragile many-body states. We find that under the application of strain, dark and localized excitons in monolayer WSe2 - a prototypical 2D semiconductor - are brought into energetic resonance, forming a new hybrid state that inherits the properties of the constituent species. The characteristics of the hybridized state, including an order-of-magnitude enhanced light/matter coupling, avoided-crossing energy shifts, and strain tunability of many-body interactions, are all supported by first-principles calculations. The hybridized exciton reported here may play a critical role in the operation of single quantum emitters based on WSe2. Furthermore, the techniques we developed may be used to fingerprint unidentified excitonic statesComment: 15 pages, 5 figure

    Modified less invasive anterior subcutaneous fixator for unstable Tile-C-pelvic ring fractures

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    Background Operative procedures for unstable pelvic ring fractures remain controversially discussed. Minimally invasive treatment options for pelvic ring fractures have several benefits for the patient. But they can also provide disadvantages. Anterior subcutaneous pelvic fixation (INFIX) has shown promising biomechanical results in pelvic ring fractures, but there is a high complication rate of nerve injuries. An additional screw to the INFIX seems to be more stable. The aim of this study is to compare biomechanical stability of a new modified unilateral INFIX fixing the unilateral injured pelvic ring with the standard INFIX. Methods 24 composite synthetic full pelvises were used in this study. 4 groups each with a number of six pelvic specimens were randomly assigned. A C1.3-type pelvic fracture was made with an osteotomy of the sacrum and an osteotomy of the anterior pelvic ring. Fracture fixation was performed within the four groups: (1) unilateral INFIX, (2) “extended” unilateral INFIX + additional pubic ramus pedicle screw, (3) bilateral INFIX, (4) “extended” bilateral INFIX + additional pubic ramus pedicle screw. All specimens were cyclic loaded with 200 N until maximum of 300 N. Distance/dislocation of the fracture fragments were detected with 3D-ultrasound measuring system. Stiffness was calculated. Results Extended unilateral INFIX showed the lowest mean dislocation. Lowest rotational stability was displayed by the standard bilateral INFIX. A significant difference (P = 0.04) was shown between the extended unilateral INFIX and the “standard” bilateral INFIX in terms of rotational stability. Extended unilateral INFIX showed significantly improved stability of anterior fracture dislocation (P = 0.01) and unilateral INFIX showed the highest rotational stiffness. Anterior fixation stiffness of the unilateral INFIX was significantly improved using an additional symphysis/pubic ramus screw (P = 0.002). Conclusion Extended unilateral INFIX (+ additional pubic ramus pedicle screw) is a feasible minimally invasive treatment for anterior pelvic ring fractures. Higher stability and lower probability of bilateral nerve damage is provided by the extended unilateral INFIX compared to the standard bilateral INFIX
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