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| 2. |
- Rafati, Nima, et al.
(författare)
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Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies
- 2016
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Ingår i: G3. - : Oxford University Press (OUP). - 2160-1836. ; 6:7, s. 2213-2223
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which were scattered on genome assembly unassigned scaffolds. Read depth analysis at these loci revealed homozygosity or compound heterozygosity for two partially overlapping large deletions in the pseudoautosomal region (PAR) of chromosome X/Y in cases but not in the control pool. One of these deletions removes the entire coding region of the SHOX gene and both deletions remove parts of the CRLF2 gene located downstream of SHOX. The horse reference assembly of the PAR is highly fragmented, and in order to characterize this region we sequenced bacterial artificial chromosome (BAC) clones by single-molecule real-time (SMRT) sequencing technology. This considerably improved the assembly and enabled size estimations of the two deletions to 1602180 kb and 60280 kb, respectively. Complete association between the presence of these deletions and disease status was verified in eight other affected horses. The result of the present study is consistent with previous studies in humans showing crucial importance of SHOX for normal skeletal development.
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| 3. |
- Ali, Imran, et al.
(författare)
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Exposure to polychlorinated biphenyls and prostate cancer : population-based prospective cohort and experimental studies
- 2016
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Ingår i: Carcinogenesis. - : Oxford University Press. - 0143-3334 .- 1460-2180. ; 37:12, s. 1144-1151
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Tidskriftsartikel (refereegranskat)abstract
- Polychlorinated biphenyls (PCBs) are highly persistent environmental pollutants and are undesirable components of our daily food. PCBs are classified as human carcinogens, but the evidence for prostate cancer is limited and available data are inconsistent. We explored the link between non-dioxin-like PCB and grade of prostate cancer in a prospective cohort as well as in cell experiments. A population-based cohort of 32496 Swedish men aged 45-79 years was followed prospectively through 1998-2011, to assess the association between validated estimates of dietary PCB exposure and incidence of prostate cancer by grade (2789 cases, whereof 1276 low grade, 756 intermediate grade, 450 high grade) and prostate cancer mortality (357 fatal cases). In addition, we investigated a non-dioxin-like PCB153-induced cell invasion and related markers in normal prostate stem cells (WPE-stem) and in three different prostate cancer cell lines (PC3, DU145 and 22RV1) at exposure levels relevant to humans. After multivariable-adjustment, dietary PCB exposure was positively associated with high-grade prostate cancer, relative risk (RR) 1.35 [95% confidence interval (CI): 1.03-1.76] and with fatal prostate cancer, RR 1.43 (95% CI: 1.05-1.95), comparing the highest tertile with the lowest. We observed no association with low or intermediate grade of prostate cancer. Cell invasion and related markers, including MMP9, MMP2, Slug and Snail, were significantly increased in human prostate cancer cells as well as in prostate stem cells after exposure to PCB153. Our findings both from the observational and experimental studies suggest a role of non-dioxin-like PCB153 in the development of high-grade and fatal prostate cancer.
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| 4. |
- Andersson, Ove, et al.
(författare)
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A Second Glass Transition in Pressure Collapsed Type II Clathrate Hydrates
- 2018
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Ingår i: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-6106 .- 1520-5207. ; 122:15, s. 4376-4384
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Tidskriftsartikel (refereegranskat)abstract
- Type II clathrate hydrates (CHs) M-17 H2O, with M = tetrahydrofuran (THF) or 1,3-dioxolane, are known to collapse, or amorphize, on pressurization to similar to 1.3 GPa in the temperature range 77-140 K. On heating at 1 GPa, these pressure-amorphized CH states show a weak, stretched sigmoid-shaped, heat-capacity increase because of a glass transition. Here we use thermal conductivity and heat capacity measurements to show that also type II CH with M = cyclobutanone (CB) collapses on isothermal pressurization and undergoes a similar, weak, glass transition upon heating at 1 GPa. Furthermore, we reveal for both THF CH and CB CH a second, much more pronounced, glass transition at temperatures above the thermally weak glass transition on heating in the 0.2-0.7 GPa range. This result suggests the general occurrence of two glass transitions in water-rich (94 mol %) pressure-collapsed CHs. Because of a large increase in dielectric permittivity concurrently as the weak heat capacity increase, the first glass transition must be due to kinetic unfreezing of water molecules. The thermal features of the second glass transition, measured on isobaric temperature cycling, are typical of a glass liquid glass transition, which suggests that pressure-amorphized CHs transform reversibly to liquids.
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| 5. |
- Andersson, Ove, et al.
(författare)
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Sub-Tg features of glasses formed by cooling glycerol under pressure – Additional incompatibility of vibrational with configurational states in the depressurized, high density glass
- 2016
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Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 145
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Tidskriftsartikel (refereegranskat)abstract
- The vibrational state of a glass is naturally incompatible with its configurational state, which makes the glass structurally unstable. When a glass is kept at constant temperature, both the vibrational and configurational states of a glass change with time until it becomes metastable (equilibrium) liquid and the two states become compatible. The process, known as structural relaxation, occurs at a progressively higher rate during heating, and the properties of a glass change accordingly. We add to this incompatibility by depressurizing a glass that had been formed by cooling a liquid under a high pressure, p, and then investigate the effects of the added incompatibility by studying thermal conductivity, κ, and the heat capacity per unit volume ρCp of the depressurized glass.We use glycerol for the purpose and study first the changes in the features of κ and of ρCp during glass formation oncooling under a set of different p. We then partially depressurize the glass and study the effect of the p-induced instability on the features of and Cp as the glass is isobarically heated to the liquid state.At a given low p, the glass configuration that was formed by cooling at high-p had a higher κ than the glass configuration that was formed by cooling at a low p. The difference is more when the glass is formed at a higher p and/or is depressurized to a lower p. On heating at a low p, its κ decreases before its glass-liquid transition range is reached. The effect is the opposite of the increase in observed on heating a glass at the same p under which it was formed. It is caused by thermally assisted loss of the added incompatibility of configurational and vibrational states of a high-p formed glass kept at low p. If a glass formed under a low-p is pressurized and then heated under high p, it would show the opposite effect, i.e., its κ would first increase to its high p value before its glass-to-liquid transition range.
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| 6. |
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| 7. |
- Andersson, Ove
(författare)
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Thermal conductivity of normal and deuterated water, crystalline ice, and amorphous ices
- 2018
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Ingår i: Journal of Chemical Physics. - : American Institute of Physics (AIP). - 0021-9606 .- 1089-7690. ; 149:12
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Tidskriftsartikel (refereegranskat)abstract
- The effect of deuteration on the thermal conductivity kappa of water, crystalline ice, and amorphous ices was studied using the pressure induced amorphization of hexagonal ice, ice Ih, to obtain the deuterated, D2O, forms of low-density amorphous (LDA), high-density amorphous (HDA), and very-high density amorphous (VHDA) ices. Upon deuteration, kappa of ice Ih decreases between 3% and 4% in the 100-270 K range at ambient pressure, but the effect diminishes on densification at 130 K and vanishes just prior to amorphization near 0.8 GPa. The unusual negative value of the isothermal density rho dependence of kappa for ice Ih, g = (d ln kappa/d ln rho)(T) = -4.4, is less so for deuterated ice: g = -3.8. In the case of the amorphous ices and liquid water, kappa of water decreases by 3.5% upon deuteration at ambient conditions, whereas K of HDA and VHDA ices instead increases by up to 5% for pressures up to 1.2 GPa at 130 K, despite HDA's and VHDA's structural similarities with water. The results are consistent with significant heat transport by librational modes in amorphous ices as well as water, and that deuteration increases phonon-phonon scattering in crystalline ice. Heat transport by librational modes is more pronounced in D2O than in H2O at low temperatures due to a deuteration-induced red-shift of librational mode frequencies. Moreover, the results show that kappa of deuterated LDA ice is 4% larger than that of normal LDA at 130 K, and both forms display an unusual temperature dependence of kappa, which is reminiscent of that for crystals (kappa similar to T (-1)), and a unique negative pressure dependence of kappa, which likely is linked to local-order structural similarities to ice Ih.
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| 8. |
- Andersson, Ove, et al.
(författare)
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Transitions in pressure collapsed clathrate hydrates
- 2015
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Ingår i: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-6106 .- 1520-5207. ; 119:9, s. 3846-3853
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Tidskriftsartikel (refereegranskat)abstract
- Type II clathrate hydrates (CHs), or ice clathrates, are inclusion compounds in which a hydrogen-bonded cage-like structure of H2O accommodates molecules of suitable size, known as guest molecules. CHs have similar local geometrical arrangements of the hydrogen-bonded water network as ice and both are known to collapse to amorphous states on isothermal pressurization at temperatures below about 140 K. Moreover, the collapsed CH states undergo a glass, or glass-like, transition at 140 K on heating at 1 GPa, which is identical to that of collapsed ice, or high density amorphous ice. Here we use thermal conductivity and dielectric measurements to study the transition behavior of two type II CHs with tetrahydrofuran and 1,3 dioxolane, respectively, as guest molecules. After their collapsed states have been heated to well above the glass transition at 1 GPa, we find transitions corresponding to the high to low density amorphous ice transition of ice with only slightly shifted temperature-pressure (T-p) coordinates compared to those of pure water. Thus, collapsed CHs show the same transition behaviors as cold water, which provide the basis for the model that explains the unusual temperature and pressure behaviors of waters properties in terms of two distinct types of liquid water. Collapsed CHs are, however, more stable than collapsed ice and can therefore be studied in a wider T-p interval. The results suggest sluggish homogenizing and phase separation processes, which affect the transition behaviors of collapsed CHs.
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| 9. |
- Andersson, Sten-Ove, et al.
(författare)
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Doctors' and nurses' perceptions of military pre-hospital emergency care - When training becomes reality
- 2017
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Ingår i: International Emergency Nursing. - : Elsevier. - 1755-599X .- 1878-013X. ; 32, s. 70-77
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Forskningsöversikt (refereegranskat)abstract
- The aim of this study was to identify physicians' and nurses' perceptions of military pre-hospital emergency care before and after an international mission. A qualitative empirical study with a phenomeno-graphic approach was used. The results after pre-deployment training can be categorised as (1) learning about military medicine and (2) taking care of the casualty. The results after an international mission can be categorised as (1) collaborating with others, (2) providing general health care and (3) improving competence in military medicine. These results indicate that the training should be developed in order to optimise pre-deployment training for physicians and nurses. This may result in increased safety for the provider of care, while at the same time minimising suffering and enhancing the possibility of survival of the injured. (C) 2017 Elsevier Ltd. All rights reserved.
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| 10. |
- Andersson, Sten-Ove, et al.
(författare)
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Fixing the wounded or keeping lead in the air-tactical officers' views of emergency care on the battlefield.
- 2015
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Ingår i: Military medicine. - : Association of Military Surgeons Us. - 0026-4075 .- 1930-613X. ; 180:2, s. 224-229
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to identify tactical officers' views of prehospital emergency care in the field before an international mission. A qualitative study with a phenomenographic approach based on interviews was used. The result of this study is a set of descriptive categories on a collective level, showing the variation in how the tactical officers perceived the phenomenon of emergency care in the battlefield. The result can be viewed as (1) noncombat-oriented including being able to do one's specialist task, being able to talk with local people, and being able to give first aid, and (2) combat-oriented including soldiers' skills and roles in the unit, being able to act in the unit, and being able to lead the care of injured. These findings are important for officers' preparation for international missions. The interaction between military and medical knowledge on-site care should be developed between the tactical officer and the medical personnel in order to minimize suffering and to enhance the possibility for survival of the casualty.
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