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Article ; Online: Multidisciplinary Aspects of 104 Patients With Pierre Robin Sequence.

Filip, Charles / Feragen, Kristin Billaud / Lemvik, Jorunn Skartveit / Lindberg, Nina / Andersson, Els-Marie / Rashidi, Mitra / Matzen, Michael / Høgevold, Hans Erik

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

2015 Volume 52, Issue 6, Page(s) 732–742

Abstract: Objective: To describe Pierre Robin sequence patients with a cleft palate from a multidisciplinary ... perspective.: Patients: A total of 104 individuals with Pierre Robin sequence and cleft palate, born ... continuous positive airway pressure, and/or a tracheotomy. The mean weight percentile for newborns with Pierre Robin sequence was 30.9 ...

Abstract	Objective: To describe Pierre Robin sequence patients with a cleft palate from a multidisciplinary perspective. Patients: A total of 104 individuals with Pierre Robin sequence and cleft palate, born between 1980 and 2010. Method: Data were collected retrospectively and compared with large control groups. Results: Of 104 patients, 19 (18.3%) were treated with a nasopharyngeal or oropharyngeal tube, continuous positive airway pressure, and/or a tracheotomy. The mean weight percentile for newborns with Pierre Robin sequence was 30.9. It decreased to 29.9 at the time of cleft palate repair (mean age, 13.7 months) (P = .78). Of 87 patients, 30 (34.5%) developed normal speech after cleft palate repair. Of 93 nonsyndromic Pierre Robin sequence patients, 31 (33.3%) had or are having surgery for velopharyngeal insufficiency, a rate that is significantly higher when compared with a control group of cleft palate-only patients (19.4%; P = .004). Of 31 patients, 25 (80.6%) developed normal resonance after surgery for velopharyngeal insufficiency. There was no significant difference in the rate of syndromes between the Pierre Robin sequence patients and a control group of cleft palate patients without Pierre Robin sequence (P = .25). Seven of 39 boys (17.9%) with Pierre Robin sequence had a diagnosis of autism spectrum disorder. Conclusion: Even though the mean weight percentile for newborns with Pierre Robin sequence was low, the patients did not show a growth spurt during the first year of life. The high rate of velopharyngeal insufficiency after cleft palate repair in patients with Pierre Robin sequence needs further investigation. Also, the high rate of autism spectrum disorder among boys with Pierre Robin sequence prompts further investigation.
Language	English
Publishing date	2015-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	1069409-2
ISSN	1545-1569 ; 0009-8701 ; 1055-6656
ISSN (online)	1545-1569
ISSN	0009-8701 ; 1055-6656
DOI	10.1597/14-161
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Article ; Online: Bilateral Hypodontia in Adolescents With Pierre Robin Sequence.

Andersson, Els-Marie / Feragen, Kristin Billaud / Mikalsen, Daniel / Kaul, Juli / Holla, Thomas M / Filip, Charles

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

2015 Volume 52, Issue 4, Page(s) 452–457

Abstract: ... in the permanent dentition of children with Pierre Robin sequence (PRS).: Patients and method: The sample consisted of 78 ...

Abstract	Objective: To describe the frequency of hypodontia and left-right symmetry of hypodontia in the permanent dentition of children with Pierre Robin sequence (PRS). Patients and method: The sample consisted of 78 children born with PRS between 1980 and 2006 and referred to the Oslo Cleft Lip and Palate Team (OCLPT). Data were collected retrospectively from the archives of the OCLPT. Panoramic radiographs were evaluated to document hypodontia; third molars were excluded. Results: Of the 78 children with PRS, hypodontia was found in 33 (42%). Of the 33 children with hypodontia, 27 (82%) showed hypodontia in the micrognathic lower arch, 24 (73%) were missing two or more permanent teeth, and 2 (6%) had oligodontia. The teeth most often missing were the mandibular second premolar (72%), followed by the maxillar second premolar (29%). Most cases of hypodontia 21 (64%) occurred bilaterally. Bilateral hypodontia of the mandibular second premolar occurred in 27 (73%) of the patients. Conclusion: Hypodontia was found in 33 (42%) of the children with PRS, which is seven times higher than the prevalence among children without PRS (6%). Unlike in the general population, bilateral hypodontia was more common than unilateral hypodontia in the micrognathic mandible of children with PRS.
Language	English
Publishing date	2015-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	1069409-2
ISSN	1545-1569 ; 0009-8701 ; 1055-6656
ISSN (online)	1545-1569
ISSN	0009-8701 ; 1055-6656
DOI	10.1597/AAID-JOI-D-11-00190
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Article ; Online: Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.

Breugem, Corstiaan C / Evans, Kelly N / Poets, Christian F / Suri, Sunjay / Picard, Arnaud / Filip, Charles / Paes, Emma C / Mehendale, Felicity V / Saal, Howard M / Basart, Hanneke / Murthy, Jyotsna / Joosten, Koen F M / Speleman, Lucienne / Collares, Marcus V M / van den Boogaard, Marie-José H / Muradin, Marvick / Andersson, Maud Els-Marie / Kogo, Mikihiko / Farlie, Peter G /

Don Griot, Peter / Mossey, Peter A / Slator, Rona / Abadie, Veronique / Hong, Paul

JAMA pediatrics

2016 Volume 170, Issue 9, Page(s) 894–902

Abstract: Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia ...

Abstract	Importance: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. Objective: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. Evidence review: Based on a literature review and expert opinion, a clinical consensus report was generated. Findings: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. Conclusions and relevance: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.
MeSH term(s)	Consensus ; Diagnosis, Differential ; Humans ; Infant ; Infant, Newborn ; Pierre Robin Syndrome/diagnosis ; Practice Guidelines as Topic
Language	English
Publishing date	2016-07-18
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2701223-2
ISSN	2168-6211 ; 2168-6203
ISSN (online)	2168-6211
ISSN	2168-6203
DOI	10.1001/jamapediatrics.2016.0796
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Book ; Conference proceedings ; Online: (Table T2) Stable iron isotope ratios and amount of iron extracted by different methods from ODP Site 207-1260 sediments, supplementary data to: Clayton, Robin E; Nederbragt, Alexandra J; Malinovsky, Dmitry; Andersson, Per; Thurow, Juergen W (2006): Data report: Iron isotope geochemistry of mid-Cretaceous organic-rich sediments at Demerara Rise (ODP Leg 207). In: Mosher, DC; Erbacher, J; Malone, MJ (eds.) Proceedings of the Ocean Drilling Program, Scientific Results, College Station, TX (Ocean Drilling Program), 207, 1-14

Clayton, Robin E / Andersson, Per / Malinovsky, Dmitry / Nederbragt, Alexandra J / Thurow, Juergen W

2006

Abstract: Fe isotope measurements are presented for 10 samples from the Cenomanian-Turonian black shale unit in Hole 1260B at Demerara Rise. The samples bracket the latest Cenomanian ocean anoxic event and were selected to ascertain whether Fe isotopes can be used ...

Abstract	Fe isotope measurements are presented for 10 samples from the Cenomanian-Turonian black shale unit in Hole 1260B at Demerara Rise. The samples bracket the latest Cenomanian ocean anoxic event and were selected to ascertain whether Fe isotopes can be used to gain a better understanding of oceanic redox conditions during the mid-Cretaceous. Three extraction procedures were used to provide Fe extracts that represent the Fe oxide (average FeCBD = 0.07 wt%, N = 8), Fe oxide-sulfide-carbonate (average FeAR = 0.34 wt%, N = 10), and total Fe fractions (average FeHF = 0.81 wt%, N = 10). Fe isotope measurements were conducted on all FeAR extracts as a priority as these were considered to best reflect changes in the redox environment. d56Fe values range between 0.02 per mil ± 0.09 per mil and -0.77 per mil ± 0.05 per mil and appear to correlate negatively with the C/N ratio and oxygen index of total organic carbon. Isotopic measurements of two Fe oxide (FeCBD) extracts show a much heavier isotopic composition (d56Fe = 0.74 per mil ± 0.08 per mil and 0.63 per mil ± 0.04 per mil), which suggests isotopic partitioning between different mineral components in the sediment.
Language	English
Dates of publication	2006-9999
Size	Online-Ressource
Publisher	PANGAEA - Data Publisher for Earth & Environmental Science
Publishing place	Bremen/Bremerhaven
Document type	Book ; Conference proceedings ; Online
Note	This dataset is supplement to doi:10.2973/odp.proc.sr.207.109.2006
DOI	10.1594/PANGAEA.776004
Database	Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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Article ; Online: Trends in Survival After First Myocardial Infarction in People With Diabetes.

Glynn, Linn / Lind, Marcus / Andersson, Tomas / Eliasson, Björn / Hofmann, Robin / Nyström, Thomas

Journal of the American Heart Association

2024 , Page(s) e034741

Abstract: Background: The aim of this study was to investigate temporal trends in survival and subsequent cardiovascular events in a nationwide myocardial infarction population with and without diabetes.: Methods and results: Between 2006 and 2020, we ... ...

Abstract	Background: The aim of this study was to investigate temporal trends in survival and subsequent cardiovascular events in a nationwide myocardial infarction population with and without diabetes. Methods and results: Between 2006 and 2020, we identified 2527 individuals with type 1 diabetes, 48 321 individuals with type 2 diabetes and 243 170 individuals without diabetes with first myocardial infarction in national health care registries. Outcomes were trends in all-cause death after 30 and 365 days, cardiovascular death and major adverse cardiovascular events (ie, nonfatal stroke, nonfatal myocardial infarction, cardiovascular death, and heart failure hospitalization). Pseudo-observations were used to estimate the mortality risk, with 95% CIs, using linear regression, adjusted for age and sex. Individuals with type 1 diabetes were younger (62±12.2 years) and more often women (43.6%) compared with individuals with type 2 diabetes (75±10.8 years; women, 38.1%), and individuals without diabetes (73±13.2 years; women, 38.4%). Early death decreased in people without diabetes from 23.1% to 17.5%, (annual change -0.48% [95% CI, -0.52% to -0.44%]) and in people with type 2 diabetes from 22.6% to 19.3% (annual change, -0.33% [95% CI, -0.43% to -0.24%]), with no such significant trend in people with type 1 diabetes from 23.8% to 21.7% (annual change, -0.18% [95% CI, -0.53% to 0.17%]). Similar trends were observed with regard to 1-year death, cardiovascular death, and major adverse cardiovascular events. Conclusions: During the past 15 years, the trend in survival and major adverse cardiovascular events in people with first myocardial infarction without diabetes and with type 2 diabetes have improved significantly. In contrast, a similar improvement was not seen in people with type 1 diabetes.
Language	English
Publishing date	2024-05-18
Publishing country	England
Document type	Journal Article
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.123.034741
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Collaboration in Hybrid Spaces

Jennie Sivenbring / Robin Andersson Malmros

Journal for Deradicalization, Vol Winter, Iss 29, Pp 54-

The Case of Nordic Efforts to Counter Violent Extremism

2021 Volume 91

Abstract: In this article, we analyze policy regulating the multiagency organizational approaches used in Nordic countries to prevent violent extremism. From an institutional logic perspective and a conceptualization of multiagency work as conducted in hybrid ... ...

Abstract	In this article, we analyze policy regulating the multiagency organizational approaches used in Nordic countries to prevent violent extremism. From an institutional logic perspective and a conceptualization of multiagency work as conducted in hybrid spaces, we analyze and develop a new theoretical framework to explain how central policies inhabit distinctive logics that compete, mix, and co-exist in these spaces, and how they inscribe specific power relations embedded in dominant discourses.
Keywords	institutional logics ; multiagency approaches ; nordic countries ; policy ; violent extremism ; Political science ; J ; Political science (General) ; JA1-92
Language	German
Publishing date	2021-12-01T00:00:00Z
Publisher	Daniel Koehler
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Transfer learning identifies sequence determinants of cell-type specific regulatory element accessibility.

Salvatore, Marco / Horlacher, Marc / Marsico, Annalisa / Winther, Ole / Andersson, Robin

NAR genomics and bioinformatics

2023 Volume 5, Issue 2, Page(s) lqad026

Abstract: Dysfunction of regulatory elements through genetic variants is a central mechanism in the pathogenesis of disease. To better understand disease etiology, there is consequently a need to understand how DNA encodes regulatory activity. Deep learning ... ...

Abstract	Dysfunction of regulatory elements through genetic variants is a central mechanism in the pathogenesis of disease. To better understand disease etiology, there is consequently a need to understand how DNA encodes regulatory activity. Deep learning methods show great promise for modeling of biomolecular data from DNA sequence but are limited to large input data for training. Here, we develop ChromTransfer, a transfer learning method that uses a pre-trained, cell-type agnostic model of open chromatin regions as a basis for fine-tuning on regulatory sequences. We demonstrate superior performances with ChromTransfer for learning cell-type specific chromatin accessibility from sequence compared to models not informed by a pre-trained model. Importantly, ChromTransfer enables fine-tuning on small input data with minimal decrease in accuracy. We show that ChromTransfer uses sequence features matching binding site sequences of key transcription factors for prediction. Together, these results demonstrate ChromTransfer as a promising tool for learning the regulatory code.
Language	English
Publishing date	2023-03-29
Publishing country	England
Document type	Journal Article
ISSN	2631-9268
ISSN (online)	2631-9268
DOI	10.1093/nargab/lqad026
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Article ; Online: Transcription factor expression is the main determinant of variability in gene co-activity.

van Duin, Lucas / Krautz, Robert / Rennie, Sarah / Andersson, Robin

Molecular systems biology

2023 Volume 19, Issue 7, Page(s) e11392

Abstract: Many genes are co-expressed and form genomic domains of coordinated gene activity. However, the regulatory determinants of domain co-activity remain unclear. Here, we leverage human individual variation in gene expression to characterize the co- ... ...

Abstract	Many genes are co-expressed and form genomic domains of coordinated gene activity. However, the regulatory determinants of domain co-activity remain unclear. Here, we leverage human individual variation in gene expression to characterize the co-regulatory processes underlying domain co-activity and systematically quantify their effect sizes. We employ transcriptional decomposition to extract from RNA expression data an expression component related to co-activity revealed by genomic positioning. This strategy reveals close to 1,500 co-activity domains, covering most expressed genes, of which the large majority are invariable across individuals. Focusing specifically on domains with high variability in co-activity reveals that contained genes have a higher sharing of eQTLs, a higher variability in enhancer interactions, and an enrichment of binding by variably expressed transcription factors, compared to genes within non-variable domains. Through careful quantification of the relative contributions of regulatory processes underlying co-activity, we find transcription factor expression levels to be the main determinant of gene co-activity. Our results indicate that distal trans effects contribute more than local genetic variation to individual variation in co-activity domains.
MeSH term(s)	Humans ; Transcription Factors/genetics ; Gene Expression Regulation ; Genome ; Genomics
Chemical Substances	Transcription Factors
Language	English
Publishing date	2023-05-09
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2193510-5
ISSN	1744-4292 ; 1744-4292
ISSN (online)	1744-4292
ISSN	1744-4292
DOI	10.15252/msb.202211392
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Article ; Online: Transcription factor expression is the main determinant of variability in gene co‐activity

Lucas vanDuin / Robert Krautz / Sarah Rennie / Robin Andersson

Molecular Systems Biology, Vol 19, Iss 7, Pp n/a-n/a (2023)

2023

Abstract: Abstract Many genes are co‐expressed and form genomic domains of coordinated gene activity. However, the regulatory determinants of domain co‐activity remain unclear. Here, we leverage human individual variation in gene expression to characterize the co‐ ... ...

Abstract	Abstract Many genes are co‐expressed and form genomic domains of coordinated gene activity. However, the regulatory determinants of domain co‐activity remain unclear. Here, we leverage human individual variation in gene expression to characterize the co‐regulatory processes underlying domain co‐activity and systematically quantify their effect sizes. We employ transcriptional decomposition to extract from RNA expression data an expression component related to co‐activity revealed by genomic positioning. This strategy reveals close to 1,500 co‐activity domains, covering most expressed genes, of which the large majority are invariable across individuals. Focusing specifically on domains with high variability in co‐activity reveals that contained genes have a higher sharing of eQTLs, a higher variability in enhancer interactions, and an enrichment of binding by variably expressed transcription factors, compared to genes within non‐variable domains. Through careful quantification of the relative contributions of regulatory processes underlying co‐activity, we find transcription factor expression levels to be the main determinant of gene co‐activity. Our results indicate that distal trans effects contribute more than local genetic variation to individual variation in co‐activity domains.
Keywords	co‐activity domains ; co‐regulation ; gene regulation ; individual variation ; transcriptional decomposition ; Biology (General) ; QH301-705.5 ; Medicine (General) ; R5-920
Subject code	570
Language	English
Publishing date	2023-07-01T00:00:00Z
Publisher	Wiley
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Promoter or enhancer, what's the difference? Deconstruction of established distinctions and presentation of a unifying model.

Andersson, Robin

BioEssays : news and reviews in molecular, cellular and developmental biology

2015 Volume 37, Issue 3, Page(s) 314–323

Abstract: Gene transcription is strictly controlled by the interplay of regulatory events at gene promoters and gene-distal regulatory elements called enhancers. Despite extensive studies of enhancers, we still have a very limited understanding of their mechanisms ...

Abstract	Gene transcription is strictly controlled by the interplay of regulatory events at gene promoters and gene-distal regulatory elements called enhancers. Despite extensive studies of enhancers, we still have a very limited understanding of their mechanisms of action and their restricted spatio-temporal activities. A better understanding would ultimately lead to fundamental insights into the control of gene transcription and the action of regulatory genetic variants involved in disease. Here, I review and discuss pros and cons of state-of-the-art genomics methods to localize and infer the activity of enhancers. Among the different approaches, profiling of enhancer RNAs yields the highest specificity and may be superior in detecting in vivo activity. I discuss their apparent similarities to promoters, which challenge the established view of enhancers and promoters as distinct entities, and present a unifying model of regulatory elements in transcriptional regulation, in which activity, transcriptional output and regulatory function is context specific.
MeSH term(s)	Animals ; Enhancer Elements, Genetic ; Gene Expression Regulation ; Humans ; Models, Genetic ; Promoter Regions, Genetic ; Transcription Factors/physiology ; Transcription Initiation Site ; Transcription, Genetic
Chemical Substances	Transcription Factors
Language	English
Publishing date	2015-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	50140-2
ISSN	1521-1878 ; 0265-9247
ISSN (online)	1521-1878
ISSN	0265-9247
DOI	10.1002/bies.201400162
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