| 1. |
|
|
| 2. |
- Hasle, Henrik, et al.
(author)
-
Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia : an international retrospective study.
- 2007
-
In: Blood. - 0006-4971. ; 109:11, s. 4641-7
-
Journal article (peer-reviewed)abstract
- Monosomy 7 (-7) and deletion 7q \del(7q)] are rare in childhood acute myeloid leukemia (AML). We retrospectively collected data on 258 children with AML or refractory anemia with excess blasts in transformation (RAEB-T) and -7 or del(7q) with or without other cytogenetic aberrations \+/- other]. Karyotypes included -7 (n = 90), -7 other (n = 82), del(7q) (n = 21), and del(7q) other (n = 65). Complete remission (CR) was achieved in fewer patients with -7 +/- other compared with del(7q) +/- other (61% versus 89%, P < .001). Overall, the 5-year survival rate was 39% (SE, 3%). Survival was superior in del(7q) +/- other compared with -7 +/- other (51% versus 30%, P < .01). Cytogenetic aberrations considered favorable in AML \t(8;21)(q22;q22), inv(16)(p13q22), t(15;17)(q22;q21), t(9;11)(p22;q23)] (n = 24) were strongly associated with del(7q) and a higher 5-year survival rate compared with del(7q) without favorable cytogenetics (75% versus 46%, P = .03). Patients with -7 and inv(3),-5/del(5q), or + 21 had a 5-year survival rate of 5%. Stem cell transplantation analyzed as a time-dependent variable had no impact on overall survival. However, patients not achieving CR had a 31% survival rate after stem cell transplantation. Childhood AML with chromosome 7 aberrations represents a heterogeneous group of disorders with additional cytogenetic aberrations having a major prognostic impact which should be reflected in future risk-group stratification.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Tudor-Locke, C, et al.
(author)
-
BMI-referenced cut points for pedometer-determined steps per day in adults.
- 2008
-
In: Journal of physical activity & health. - 1543-3080. ; 5 Suppl 1
-
Journal article (peer-reviewed)abstract
- The goal of this study was to establish preliminary criterion-referenced cut points for adult pedometer-determined physical activity (PA) related to weight status defined by body mass index (BMI).
|
|
| 6. |
|
|
| 7. |
- Wojcik, J. M., et al.
(author)
-
Post-bottleneck mtDNA diversity in a free-living population of European bison: implications for conservation
- 2009
-
In: Journal of Zoology. - : Wiley. - 0952-8369 .- 1469-7998. ; 277:1, s. 81-87
-
Journal article (peer-reviewed)abstract
- A free-living population of European bison Bison bonasus in the Bialowieza Primeval Forest originated from only seven founder animals after a severe bottleneck that occurred at the beginning of the 20th century. Consequently, the contemporary population of the species is characterized by low genetic diversity. We studied a total of 195 individuals (127 males and 68 females). A 1429 bp fragment of mitochondrial DNA (mtDNA) including the D-loop region was analyzed in 87 individuals and revealed only three distinct haplotypes. Nucleotide (pi) and haplotype (H-d) diversity values were estimated for the European bison and were compared with pi and H-d estimated from three individuals of American bison Bison bison. Very low diversity values were found in the European bison in comparison with the diversity values found in the American bison. The low mtDNA variability in the European bison is in concordance with theoretical expectations for a species that has undergone a severe and recent bottleneck. A management strategy for the preservation of the rare and very rare haplotypes present in the Bialowieza population of the European bison is discussed. Furthermore, all 195 individuals were investigated for heteroplasmy involving these three haplotypes, in order to detect a possible association between heteroplasmy and the incidence of males affected by posthitis, a disease that affects the male reproductive organs, leading to necrotic lesions. Heteroplasmy was found in 15 females, in 17 males affected by posthitis and in 11 non-affected males, and no significant association was found.
|
|
| 8. |
- Kowalik, Iwona, et al.
(author)
-
Structural and optical properties of low-temperature ZnO films grown by atomic layer deposition with diethylzinc and water precursors
- 2009
-
In: Journal of Crystal Growth. - : Elsevier BV. - 0022-0248. ; 311:4, s. 1096-1101
-
Journal article (peer-reviewed)abstract
- We report on properties of low-temperature (LT) ZnO films grown by the atomic layer deposition method with diethylzinc (DEZn) precursor. It is shown that the ZnO thin film crystallographic orientation, quality of the surface, and optical properties depend on the main growth parameters like temperature, pulsing, and purging time and thus can be varied in controllable manner. All the presented results were obtained for ZnO layers grown at temperature between 90 and 200 degrees C. (C) 2008 Elsevier B.V. All rights reserved.
|
|
| 9. |
- Kozyrev, Sergey V, et al.
(author)
-
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
- 2008
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 40:2, s. 211-216
-
Journal article (peer-reviewed)abstract
- Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance(1-3). In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta 2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.
|
|
| 10. |
- Tudor-Locke, Catrine, et al.
(author)
-
BMI referenced cut points for pedometer determined steps/day in adults
- 2008
-
In: Journal of Physical Activity and Health. - : Human Kinetics. - 1543-3080 .- 1543-5474. ; 5:Suppl 1, s. 126-139
-
Journal article (peer-reviewed)abstract
- Background:The goal of this study was to establish preliminary criterion-referenced cut points for adult pedometer-determined physical activity (PA) related to weight status defined by body mass index (BMI).Methods:Researchers contributed directly measured BMI and pedometer data that had been collected (1) using a Yamax-manufactured pedometer, (2) for a minimum of 3 days, (3) on ostensibly healthy adults. The contrasting groups method was used to identify age- and gender-specific cut points for steps/d related to BMI cut points for normal weight and overweight/obesity (defined as BMI <25 and ≥25 kg/m2, respectively).Results:Data included 3127 individuals age 18 to 94 years (976 men, age = 46.8 ± 15.4 years, BMI = 27.3 ± 4.9; 2151 women, age = 47.4 ± 14.9 years, BMI = 27.6 ± 6.4; all gender differences NS). Best estimated cut points for normal versus overweight/obesity ranged from 11,000 to 12,000 steps/d for men and 8000 to 12,000 steps/d for women (consistently higher for younger age groups).Conclusions:These steps/d cut points can be used to identify individuals at risk, or the proportion of adults achieving or falling short of set cut points can be reported and compared between populations. Cut points can also be used to set intervention goals, and they can be referred to when evaluating program impact, as well as environmental and policy changes.
|
|
