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| 2. |
- Clark, Andrew G., et al.
(author)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Journal article (peer-reviewed)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 3. |
- Morita, Y, et al.
(author)
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ASXL1 mutations with serum EPO levels predict poor response to darbepoetin alfa in lower-risk MDS: W-JHS MDS01 trial
- 2022
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In: International journal of hematology. - : Springer Science and Business Media LLC. - 1865-3774 .- 0925-5710. ; 116:5, s. 659-668
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Journal article (peer-reviewed)abstract
- Darbepoetin alfa (DA) is used to treat anemia in lower-risk (IPSS low or int-1) myelodysplastic syndromes (MDS). However, whether mutations can predict the effectiveness of DA has not been examined. The present study aimed to determine predictive gene mutations. The primary endpoint was a correlation between the presence of highly frequent (≥ 10%) mutations and hematological improvement-erythroid according to IWG criteria 2006 by DA (240 μg/week) until week 16. The study included 79 patients (age 29–90, median 77.0 years; 52 [65.8%] male). Frequently (≥ 10%) mutated genes were SF3B1 (24 cases, 30.4%), TET2 (20, 25.3%), SRSF2 (10, 12.7%), ASXL1 (9, 11.4%), and DNMT3A (8, 10.1%). Overall response rate to DA was 70.9%. Multivariable analysis including baseline erythropoietin levels and red blood cell transfusion volumes as variables revealed that erythropoietin levels and mutations of ASXL1 gene were significantly associated with worse response (odds ratio 0.146, 95% confidence interval 0.042–0.503; p = 0.0023, odds ratio 0.175, 95% confidence interval 0.033–0.928; p = 0.0406, respectively). This study indicated that anemic patients who have higher erythropoietin levels and harbor ASXL1 gene mutations may respond poorly to DA. Alternative strategies are needed for the treatment of anemia in this population. Trial registration number and date of registration: UMIN000022185 and 09/05/2016.
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| 4. |
- De Marco, O., et al.
(author)
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The messy death of a multiple star system and the resulting planetary nebula as observed by JWST
- 2022
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In: Nature Astronomy. - : Springer Science and Business Media LLC. - 2397-3366. ; 6:12, s. 1421-1432
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Journal article (peer-reviewed)abstract
- Planetary nebulae—the ejected envelopes of red giant stars—provide us with a history of the last, mass-losing phases of 90% of stars initially more massive than the Sun. Here we analyse images of the planetary nebula NGC 3132 from the James Webb Space Telescope (JWST) Early Release Observations. A structured, extended hydrogen halo surrounding an ionized central bubble is imprinted with spiral structures, probably shaped by a low-mass companion orbiting the central star at about 40–60 au. The images also reveal a mid-infrared excess at the central star, interpreted as a dusty disk, which is indicative of an interaction with another closer companion. Including the previously known A-type visual companion, the progenitor of the NGC 3132 planetary nebula must have been at least a stellar quartet. The JWST images allow us to generate a model of the illumination, ionization and hydrodynamics of the molecular halo, demonstrating the power of JWST to investigate complex stellar outflows. Furthermore, new measurements of the A-type visual companion allow us to derive the value for the mass of the progenitor of a central star with excellent precision: 2.86 ± 0.06 M⊙. These results serve as pathfinders for future JWST observations of planetary nebulae, providing unique insight into fundamental astrophysical processes including colliding winds and binary star interactions, with implications for supernovae and gravitational-wave systems.
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| 5. |
- Ghadri, J. R., et al.
(author)
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International Expert Consensus Document on Takotsubo Syndrome (Part I): Clinical Characteristics, Diagnostic Criteria, and Pathophysiology
- 2018
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In: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 39:22, s. 2032-2046
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Journal article (peer-reviewed)abstract
- Takotsubo syndrome (TTS) is a poorly recognized heart disease that was initially regarded as a benign condition. Recently, it has been shown that TTS may be associated with severe clinical complications including death and that its prevalence is probably underestimated. Since current guidelines on TTS are lacking, it appears timely and important to provide an expert consensus statement on TTS. The clinical expert consensus document part I summarizes the current state of knowledge on clinical presentation and characteristics of TTS and agrees on controversies surrounding TTS such as nomenclature, different TTS types, role of coronary artery disease, and etiology. This consensus also proposes new diagnostic criteria based on current knowledge to improve diagnostic accuracy.
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| 6. |
- Ghadri, J. R., et al.
(author)
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International Expert Consensus Document on Takotsubo Syndrome (Part II): Diagnostic Workup, Outcome, and Management
- 2018
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In: European Heart Journal. - : Oxford University Press (OUP). - 0195-668X .- 1522-9645. ; 39:22, s. 2047-2062
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Journal article (peer-reviewed)abstract
- The clinical expert consensus statement on takotsubo syndrome (TTS) part II focuses on the diagnostic workup, outcome, and management. The recommendations are based on interpretation of the limited clinical trial data currently available and experience of international TTS experts. It summarizes the diagnostic approach, which may facilitate correct and timely diagnosis. Furthermore, the document covers areas where controversies still exist in risk stratification and management of TTS. Based on available data the document provides recommendations on optimal care of such patients for practising physicians.
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| 8. |
- Mircheff, A K, et al.
(author)
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Class II antigen expression by lacrimal epithelial cells. An updated working hypothesis for antigen presentation by epithelial cells
- 1991
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In: Investigative Ophthalmology and Visual Science. - 0146-0404 .- 1552-5783. ; 32:8, s. 2302-2310
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Journal article (peer-reviewed)abstract
- It has been suggested that aberrant expression of Class II histocompatibility antigens (HLA) is involvedin T cell activation and leads to autoimmunity. Although Class II antigen expression was foundin various nonlymphoid tissues, including salivary glands, its expression on lacrimal epithelial cells hasnot been reported. In this study, 12 cadaver lacrimal glands were analyzed for HLA-DR and for thenumbers and distributions of T suppressor cells (Ts), T helper cells (Th), B cells, and macrophages.None of these cases exhibited the high numbers of inflammatory cells, tissue damage, and fibrosischaracteristic of Sjogren's syndrome. The HLA-DR-positive epithelial cells were detected in ten cases;they represented from less than 1% to more than 70% of the epithelial cells. In these ten positive cases,there were greater numbers of T cells per millimeter squared (229 ± 94 [mean ± the standard error ofthe mean]) than in the two HLA-DR-negative cases (37 ± 1 [mean ± range]). Three lacrimal glandspecimens tested were negative for immunoglobulin (Ig) G-bearing B cells, and two of the three specimenstested had IgA-bearing cells. Acinar cells were isolated from rat and rabbit lacrimal glands andcultured overnight in serum-free media supplemented with several potential mediators of Class IIantigen expression: interferon-7, carbachol, or isoproterenol. Freshly isolated cells did not expressClass II antigens at detectable levels, but in most experiments, they began to express the antigen evenin the absence of putative mediators. In light of results from recent studies of antigen presentation andepithelial cell membrane dynamics, these findings suggest a hypothesis in which Class II antigen-expressingepithelial cells present antigenic peptides that are generated in the intracellular compartmentsin communication with the basal-lateral membrane assembly and recycling pathway.
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| 9. |
- Rurangirwa, Akashi Andrew, 1978, et al.
(author)
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Quality of antenatal care services in Rwanda: Assessing practices of health care providers 11 Medical and Health Sciences 1117 Public Health and Health Services
- 2018
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In: Bmc Health Services Research. - : Springer Science and Business Media LLC. - 1472-6963. ; 18:1
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Journal article (peer-reviewed)abstract
- Background: Although most pregnant women in Rwanda visit antenatal care (ANC) clinics, little has been studied about the quality of services being provided. We investigated the ANC providers' (HCPs) current practices in relation to prevention, management and referral of maternal conditions as well as the information provided to pregnant women attending ANC services in Rwanda. Methods: This facility-based, cross-sectional study included 312 ANC providers as participants and a review of 605 ANC medical records from 121 health centers. Data collection was performed using an interviewer-administered questionnaire and a structured observation checklist. For the analyses, descriptive statistics and bi-and multivariable logistic regression were used. Results: Nurses and midwives in ANC services failed to report a number of pregnancy-related conditions that would need urgent referral to a higher level of health care. Midwives did somewhat better than nurses in reporting these conditions. There was no statistically significant difference in how nurses and midwives informed pregnant women about pregnancy-related issues. Ever been trained in how to manage a pregnant woman exposed to violence was reported by 14% of the participants. In 12, 13 and 15% of the medical records there was no report on tetanus immunization, anthelmintic treatment and syphilis testing, respectively. Conclusion: The providers in ANC clinics reported suboptimal practices on conditions of pregnancy that needed urgent referral for adequate management. Information to pregnant women on danger signs of pregnancy, recommended medicines and tests do not seem to be consistently provided. Midwifery training in Rwanda should be expanded so that most of staff at ANC clinics are trained as midwives to help lower maternal and child mortality and morbidity. © 2018 The Author(s).
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