| 1. |
- Sliz, E., et al.
(författare)
-
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Meinander, H, et al.
(författare)
-
Manikin measurements versus wear trials of cold protective clothing (Subzero project)
- 2004
-
Ingår i: European Journal of Applied Physiology. - : Springer Science and Business Media LLC. - 1439-6327 .- 1439-6319. ; 92:6, s. 619-621
-
Tidskriftsartikel (refereegranskat)abstract
- The thermal insulation properties of clothing systems can be defined through physical measurements using thermal manikins or through wear trials using human test subjects. One objective of the European Subzero project was to define the relationship between physically measured thermal insulation values of cold-protective clothing and the corresponding physiological reactions on human test subjects. Four cold-protective clothing ensembles, intended for use in temperatures between 0 and -50degreesC, were measured with manikins in eight European laboratories and on human test subjects in four of these laboratories. The results showed that reasonably good reproducible values from the manikin tests can be achieved (CV <8%); however, the fit of the clothing on the manikin is a critical factor. There were greater individual differences in the wear trial results. Comparing the results from the manikin and the wear trials, good agreement in the thermal insulation values was shown if the amount of accumulated sweat was low. In these situations, which are normal when using cold protective clothing, the thermal comfort can also be determined with good accuracy by means of mathematical models based on manikin results. Special situations, e.g. for highly perspiring wearers, strong wind, or high friction between garment layers, need specific modelling; some suggestions have been made as a result of the Subzero project, but further research is required.
|
|
| 5. |
- Jussila, Miro-Pekka, et al.
(författare)
-
Late vertebral side effects in long-term survivors of irradiated childhood brain tumor
- 2018
-
Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 13:12
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose: Long-term side effects of the treatments are common in survivors of irradiated pediatric brain tumors. Ionizing radiation in combination with surgery and chemotherapy during childhood may reduce vertebral height and bone mineral density (BMD), and cause growth failure. The aim of this study was to evaluate the late consequences of tumor treatments on vertebrae in survivors of childhood brain tumors.Methods: 72 adult survivors (mean age 27.8 years, standard deviation 6.7) of irradiated childhood brain tumor were studied by spinal magnetic resonance imaging (MRI) for vertebral abnormalities from the national cohort of Finland. Patients were treated in five university hospitals in Finland between the years 1970 and 2008. Subject height and weight were measured and body mass index (BMI) was calculated. The morphology and height/ depth ratio of the vertebrae in the middle of the kyphotic thoracic curvature (Th8) and lumbar lordosis (L3) were examined. Vertebrae were analyzed by Genant's semiquantative (SQ) method and spinal deformity index (SDI) was calculated. BMD was measured by using dual X-ray absorptiometry.Results: 4.2% (3/72) of the patients had undiagnosed asymptomatic vertebral fracture and 5.6% (4/72) of patients had radiation- induced decreased vertebral body height. Male patients had flatter vertebrae compared with females. Patient age at the time of irradiation, BMI and irradiation area correlated to vertebral morphology differentially in males and females. BMD had no association with the vertebral shape. Patients who had received craniospinal irradiation were shorter than the general population.Conclusion: Childhood brain tumor survivors had a high number of vertebral abnormalities in young adulthood. Irradiation was associated with abnormal vertebral morphology and compromised final height. Male gender may predispose vertebrae to the side effects of irradiation.
|
|
| 6. |
|
|
