| 1. |
- Dalgaard, Marlene D., et al.
(författare)
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A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
- 2012
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 49:1, s. 58-65
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Tidskriftsartikel (refereegranskat)abstract
- Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. The incidence of these disorders has increased over the last few decades, and testicular cancer now affects 1% of the Danish and Norwegian male population. Methods To identify genetic variants that span the four TDS phenotypes, the authors performed a genome-wide association study (GWAS) using Affymetrix Human SNP Array 6.0 to screen 488 patients with symptoms of TDS and 439 selected controls with excellent reproductive health. Furthermore, they developed a novel integrative method that combines GWAS data with other TDS-relevant data types and identified additional TDS markers. The most significant findings were replicated in an independent cohort of 671 Nordic men. Results Markers located in the region of TGFBR3 and BMP7 showed association with all TDS phenotypes in both the discovery and replication cohorts. An immunohistochemistry investigation confirmed the presence of transforming growth factor beta receptor type III (TGFBR3) in peritubular and Leydig cells, in both fetal and adult testis. Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. Conclusions The association of single-nucleotide polymorphisms in the TGFBR3 and BMP7 genes, which belong to the transforming growth factor b signalling pathway, suggests a role for this pathway in the pathogenesis of TDS. Integrating data from multiple layers can highlight findings in GWAS that are biologically relevant despite having border significance at currently accepted statistical levels.
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| 2. |
- Albertsson, Josefin, et al.
(författare)
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The risks of ankylosis of 89 avulsed human teeth stored in saliva prior to replantation-A re-evaluation of a long-term clinical study
- 2021
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Ingår i: Dental Traumatology. - : John Wiley & Sons. - 1600-4469 .- 1600-9657. ; 37:4, s. 537-545
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Tidskriftsartikel (refereegranskat)abstract
- Background/Aim: The survival of an avulsed tooth highly depends on the emergency management. The aim of this study was to evaluate the risk of ankylosis for avulsed human teeth stored in saliva preceded by various dry storage conditions prior to replantation. Material and methods: Data include 74 patients (54 male and 20 female) with 89 avulsed and replanted teeth (16 immature teeth, 73 mature teeth). Patient ages ranged from 6 to 36 years (median: 13.0 years). All teeth were stored in saliva before replantation. Treatment and follow-up were performed according to a standardized procedure. Follow-up periods ranged from 7 months to 20 years (mean 5.3 years). The risk of ankylosis over time was estimated by the Aalen-Johansen method in relation to the length of dry storage and the stage of root development. The effect of risk factors (root development and length of dry time) on the risk of ankylosis was analysed by Cox regression analysis. Results: For mature teeth, dry storage for 5 min or less before saliva storage resulted in a 47.4% (95% confidence interval (CI): 32.8-60.7) ankylosis rate. When dry storage was >5 min and <20 min, the risk of ankylosis was 76.8% (95% CI: 45.7-91.5). When dry storage exceeded 20 min prior to saliva storage, ankylosis increased to 89.3% (95% CI: 68.0-96.7). Ankylosis also increased with increasing saliva storage time. Specifically, one additional minute of wet time increased the ankylosis hazard rate (HR) by approximately 1% (CI = [0%, 2%], p = .052). Teeth with mature root development were significantly more frequently affected by ankylosis than teeth with immature root development (HR: 2.4 (95% CI: 1.0-5.5), p = .04). Conclusion: Temporary storage in saliva should be encouraged if an avulsed permanent tooth cannot be immediately replanted or a suitable storage medium such as milk or saline is not immediately available at the place of the accident.
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| 3. |
- Gul, Abdulaziz, et al.
(författare)
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Risk of ankylosis of avulsed teeth immediately replanted or stored under favorable storage conditions before replantation : A long-term clinical study
- 2024
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Ingår i: Dental Traumatology. - : John Wiley & Sons. - 1600-4469 .- 1600-9657. ; 40:2, s. 137-143
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/AIM: There are few long-term clinical follow-up studies on human teeth replanted immediately or after storage in a suitable storage medium prior to replantation. This study aimed to assess the risk of ankylosis in avulsed human teeth replanted immediately or after storage in physiological media for a short time.MATERIAL: Data from 116 patients with 145 replanted avulsed permanent teeth were selected from a comprehensive dental trauma database in Copenhagen University Hospital. The following teeth were selected: Group 1 comprised 36 teeth replanted immediately (dry time <6 min; wet time <6 min). Group 2 comprised 61 teeth replanted after physiologic storage media (saliva and saline) (dry time <6 min; wet time >5 min; wet time ranged from 7 to 170 min, and mean wet time was 59 min). Group 3 (control) included 48 teeth replanted after dry storage (dry time > 60 min).METHOD: Clinical and radiographic registrations were carried out according to a standardized protocol; follow-up ranged from 7 months to 23 years. Ankylosis was diagnosed by percussion test and radiographs and related to the conditions prior to replantation and stage of root development.RESULTS: The overall risk of ankylosis was 17.2% [95% CI: 4.61; 29.79] for immediately replanted teeth, 55.3% [95% CI: 42.54; 68.00] for teeth stored in physiologic media before replantation, and 85.7% [95% CI: 75.70; 95.73] for teeth stored dry more than 1 h. Mature teeth showed a significantly higher risk of ankylosis than immature teeth.CONCLUSION: This clinical long-term study has verified earlier experimental studies showing that immediate reimplantation has the lowest risk of ankylosis. Physiologic storage media are good alternatives that also reduce the risk of ankylosis compared to dry storage, where ankylosis is more likely although not always seen. Mature teeth are significantly more likely to develop ankylosis.
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| 4. |
- Skov, Morten W., et al.
(författare)
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Risk prediction of atrial fibrillation based on electrocardiographic interatrial block
- 2018
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Ingår i: Journal of the American Heart Association. - 2047-9980. ; 7:11
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Tidskriftsartikel (refereegranskat)abstract
- Background--The electrocardiographic interatrial block (IAB) has been associated with atrial fibrillation (AF). We aimed to test whether IAB can improve risk prediction of AF for the individual person. Methods and Results--Digital ECGs of 152 759 primary care patients aged 50 to 90 years were collected from 2001 to 2011. We identified individuals with P-wave ≥120 ms and the presence of none, 1, 2, or 3 biphasic P-waves in inferior leads. Data on comorbidity, medication, and outcomes were obtained from nationwide registries. We observed a dose-response relationship between the number of biphasic P-waves in inferior leads and the hazard of AF during follow-up. Discrimination of the 10-year outcome of AF, measured by time-dependent area under the curve, was increased by 1.09% (95% confidence interval 0.43-1.74%) for individuals with cardiovascular disease at baseline (CVD) and 1.01% (95% confidence interval 0.40-1.62%) for individuals without CVD, when IAB was added to a conventional risk model for AF. The highest effect of IAB on the absolute risk of AF was observed in individuals aged 60 to 70 years with CVD. In this subgroup, the 10-year risk of AF was 50% in those with advanced IAB compared with 10% in those with a normal P-wave. In general, individuals with advanced IAB and no CVD had a higher risk of AF than patients with CVD and no IAB. Conclusions--IAB improves risk prediction of AF when added to a conventional risk model. Clinicians may consider monitoring patients with IAB more closely for the occurrence of AF, especially for high-risk subgroups.
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