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Supplementary material 1 from: Gerdes K, Kihara TC, Martínez Arbizu P, Kuhn T, Schwarz-Schampera U, Mah CL, Norenburg JL, Linley TD, Shalaeva K, Macpherson E, Gordon D, Stöhr S, Messing CG, Bober S, Guggolz T, Christodoulou M, Gebruk A, Kremenetskaia A, Kroh A, Sanamyan K, Bolstad K, Hoffman L, Gooday AJ, Molodtsova T (2021) Megafauna of the German exploration licence area for seafloor massive sulphides along the Central and South East Indian Ridge (Indian Ocean). Biodiversity Data Journal 9: e69955. https://doi.org/10.3897/BDJ.9.e69955

Gerdes, Klaas ; Kihara, Terue ; Martínez Arbizu, Pedro ; [et al.]

Pensoft Publishers ; 2021

In: Biodiversity Data Journal Vol. 9 ( 2021-09-28)

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In: Biodiversity Data Journal, Pensoft Publishers, Vol. 9 ( 2021-09-28)

Abstract: The growing interest in mineral resources of the deep sea, such as seafloor massive sulphide deposits, has led to an increasing number of exploration licences issued by the International Seabed Authority. In the Indian Ocean, four licence areas exist, resulting in an increasing number of new hydrothermal vent fields and the discovery of new species. Most studies focus on active venting areas including their ecology, but the non-vent megafauna of the Central Indian Ridge and South East Indian Ridge remains poorly known. In the framework of the Indian Ocean Exploration project in the German license area for seafloor massive sulphides, baseline imagery and sampling surveys were conducted yearly during research expeditions from 2013 to 2018, using video sledges and Remotely Operated Vehicles. This is the first report of an imagery collection of megafauna from the southern Central Indian- and South East Indian Ridge, reporting the taxonomic richness and their distribution. A total of 218 taxa were recorded and identified, based on imagery, with additional morphological and molecular confirmed identifications of 20 taxa from 89 sampled specimens. The compiled fauna catalogue is a synthesis of megafauna occurrences aiming at a consistent morphological identification of taxa and showing their regional distribution. The imagery data were collected during multiple research cruises in different exploration clusters of the German licence area, located 500 km north of the Rodriguez Triple Junction along the Central Indian Ridge and 500 km southeast of it along the Southeast Indian Ridge.

Type of Medium: Online Resource

ISSN: 1314-2828 , 1314-2836

URL: Article

DOI: 10.3897/BDJ.9.e69955

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DOI: 10.3897/BDJ.9.e69955.suppl1

Language: Unknown

Publisher: Pensoft Publishers

Publication Date: 2021

detail.hit.zdb_id: 2736709-5

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Whole-genome sequencing of patients with rare diseases in a national health system

Turro, Ernest ; Astle, William J. ; Megy, Karyn ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Vol. 583, No. 7814 ( 2020-07-02), p. 96-102

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In: Nature, Springer Science and Business Media LLC, Vol. 583, No. 7814 ( 2020-07-02), p. 96-102

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/s41586-020-2434-2

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Swietlik, Emilia M. ; Greene, Daniel ; Zhu, Na ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2021

In: Circulation: Genomic and Precision Medicine Vol. 14, No. 1 ( 2021-02)

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In: Circulation: Genomic and Precision Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 14, No. 1 ( 2021-02)

Abstract: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PAH, we integrated deep phenotyping with whole-genome sequencing data using Bayesian statistics. Methods: We analyzed 13 037 participants enrolled in the NBR study (NIHR BioResource—Rare Diseases), of which 1148 were recruited to the PAH domain. To test for genetic associations between genes and selected phenotypes of pulmonary hypertension, we used the Bayesian rare variant association method BeviMed. Results: Heterozygous, high impact, likely loss-of-function variants in the kinase insert domain receptor ( KDR ) gene were strongly associated with significantly reduced transfer coefficient for carbon monoxide (posterior probability=0.989) and older age at diagnosis (posterior probability=0.912). We also provide evidence for familial segregation of a rare nonsense KDR variant with these phenotypes. On computed tomographic imaging of the lungs, a range of parenchymal abnormalities were observed in the 5 patients harboring these predicted deleterious variants in KDR . Four additional PAH cases with rare likely loss-of-function variants in KDR were independently identified in the US PAH Biobank cohort with similar phenotypic characteristics. Conclusions: The Bayesian inference approach allowed us to independently validate KDR , which encodes for the VEGFR2 (vascular endothelial growth factor receptor 2), as a novel PAH candidate gene. Furthermore, this approach specifically associated high impact likely loss-of-function variants in the genetically constrained gene with distinct phenotypes. These findings provide evidence for KDR being a clinically actionable PAH gene and further support the central role of the vascular endothelium in the pathobiology of PAH.

Type of Medium: Online Resource

ISSN: 2574-8300

URL: Article

DOI: 10.1161/CIRCGEN.120.003155

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2021

detail.hit.zdb_id: 2927603-2

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Germline selection shapes human mitochondrial DNA diversity

Wei, Wei ; Tuna, Salih ; Keogh, Michael J. ; [et al.]

American Association for the Advancement of Science (AAAS) ; 2019

In: Science Vol. 364, No. 6442 ( 2019-05-24)

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In: Science, American Association for the Advancement of Science (AAAS), Vol. 364, No. 6442 ( 2019-05-24)

Abstract: Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother–offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.

Type of Medium: Online Resource

ISSN: 0036-8075 , 1095-9203

URL: Article

DOI: 10.1126/science.aau6520

RVK:

TA 1000

RVK:

WA 15000

Language: English

Publisher: American Association for the Advancement of Science (AAAS)

Publication Date: 2019

detail.hit.zdb_id: 128410-1

detail.hit.zdb_id: 2066996-3

detail.hit.zdb_id: 2060783-0

SSG: 11

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Thaventhiran, James E. D. ; Lango Allen, Hana ; Burren, Oliver S. ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Vol. 583, No. 7814 ( 2020-07-02), p. 90-95

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In: Nature, Springer Science and Business Media LLC, Vol. 583, No. 7814 ( 2020-07-02), p. 90-95

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/s41586-020-2265-1

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre study

Geriatric Medicine Research Collaborative ; Faheem, Waleed ; Nandra, Taran ; [et al.]

Springer Science and Business Media LLC ; 2023

In: European Geriatric Medicine Vol. 14, No. 2 ( 2023-01-25), p. 325-332

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In: European Geriatric Medicine, Springer Science and Business Media LLC, Vol. 14, No. 2 ( 2023-01-25), p. 325-332

Abstract: Delirium is a neuropsychiatric disorder delineated by an acute change in cognition, attention, and consciousness. It is common, particularly in older adults, but poorly recognised. Frailty is the accumulation of deficits conferring an increased risk of adverse outcomes. We set out to determine how severity of frailty, as measured using the CFS, affected delirium rates, and recognition in hospitalised older people in the United Kingdom. Methods Adults over 65 years were included in an observational multi-centre audit across UK hospitals, two prospective rounds, and one retrospective note review. Clinical Frailty Scale (CFS), delirium status, and 30-day outcomes were recorded. Results The overall prevalence of delirium was 16.3% (483). Patients with delirium were more frail than patients without delirium (median CFS 6 vs 4). The risk of delirium was greater with increasing frailty [OR 2.9 (1.8–4.6) in CFS 4 vs 1–3; OR 12.4 (6.2–24.5) in CFS 8 vs 1–3]. Higher CFS was associated with reduced recognition of delirium (OR of 0.7 (0.3–1.9) in CFS 4 compared to 0.2 (0.1–0.7) in CFS 8). These risks were both independent of age and dementia. Conclusion We have demonstrated an incremental increase in risk of delirium with increasing frailty. This has important clinical implications, suggesting that frailty may provide a more nuanced measure of vulnerability to delirium and poor outcomes. However, the most frail patients are least likely to have their delirium diagnosed and there is a significant lack of research into the underlying pathophysiology of both of these common geriatric syndromes.

Type of Medium: Online Resource

ISSN: 1878-7657

URL: Article

DOI: 10.1007/s41999-022-00737-y

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2023

detail.hit.zdb_id: 2556794-9

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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy : A 30-Month Nonrandomized Controlled Open-Label Extension Trial

Mah, Jean K. ; Clemens, Paula R. ; Guglieri, Michela ; [et al.]

American Medical Association (AMA) ; 2022

In: JAMA Network Open Vol. 5, No. 1 ( 2022-01-25), p. e2144178-

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In: JAMA Network Open, American Medical Association (AMA), Vol. 5, No. 1 ( 2022-01-25), p. e2144178-

Type of Medium: Online Resource

ISSN: 2574-3805

URL: Article

DOI: 10.1001/jamanetworkopen.2021.44178

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2022

detail.hit.zdb_id: 2931249-8

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FH Potsdam

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A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Bancroft, Elizabeth K ; Page, Elizabeth C ; Brook, Mark N ; [et al.]

Elsevier BV ; 2021

In: The Lancet Oncology Vol. 22, No. 11 ( 2021-11), p. 1618-1631

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In: The Lancet Oncology, Elsevier BV, Vol. 22, No. 11 ( 2021-11), p. 1618-1631

Type of Medium: Online Resource

ISSN: 1470-2045

URL: Article

DOI: 10.1016/S1470-2045(21)00522-2

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2049730-1

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Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Thaventhiran, James E. D. ; Lango Allen, Hana ; Burren, Oliver S. ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Vol. 584, No. 7819 ( 2020-08-06), p. E2-E2

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In: Nature, Springer Science and Business Media LLC, Vol. 584, No. 7819 ( 2020-08-06), p. E2-E2

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/s41586-020-2556-6

RVK:

TA 1000

RVK:

UA 1000

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WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Wissenschaftspark Albert Einstein

TH Wildau

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A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk

Redondo, Maria J. ; Geyer, Susan ; Steck, Andrea K. ; [et al.]

American Diabetes Association ; 2018

In: Diabetes Care Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894

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In: Diabetes Care, American Diabetes Association, Vol. 41, No. 9 ( 2018-09-01), p. 1887-1894

Abstract: We tested the ability of a type 1 diabetes (T1D) genetic risk score (GRS) to predict progression of islet autoimmunity and T1D in at-risk individuals. RESEARCH DESIGN AND METHODS We studied the 1,244 TrialNet Pathway to Prevention study participants (T1D patients’ relatives without diabetes and with one or more positive autoantibodies) who were genotyped with Illumina ImmunoChip (median [range] age at initial autoantibody determination 11.1 years [1.2–51.8], 48% male, 80.5% non-Hispanic white, median follow-up 5.4 years). Of 291 participants with a single positive autoantibody at screening, 157 converted to multiple autoantibody positivity and 55 developed diabetes. Of 953 participants with multiple positive autoantibodies at screening, 419 developed diabetes. We calculated the T1D GRS from 30 T1D-associated single nucleotide polymorphisms. We used multivariable Cox regression models, time-dependent receiver operating characteristic curves, and area under the curve (AUC) measures to evaluate prognostic utility of T1D GRS, age, sex, Diabetes Prevention Trial–Type 1 (DPT-1) Risk Score, positive autoantibody number or type, HLA DR3/DR4-DQ8 status, and race/ethnicity. We used recursive partitioning analyses to identify cut points in continuous variables. RESULTS Higher T1D GRS significantly increased the rate of progression to T1D adjusting for DPT-1 Risk Score, age, number of positive autoantibodies, sex, and ethnicity (hazard ratio [HR] 1.29 for a 0.05 increase, 95% CI 1.06–1.6; P = 0.011). Progression to T1D was best predicted by a combined model with GRS, number of positive autoantibodies, DPT-1 Risk Score, and age (7-year time-integrated AUC = 0.79, 5-year AUC = 0.73). Higher GRS was significantly associated with increased progression rate from single to multiple positive autoantibodies after adjusting for age, autoantibody type, ethnicity, and sex (HR 2.27 for GRS & gt;0.295, 95% CI 1.47–3.51; P = 0.0002). CONCLUSIONS The T1D GRS independently predicts progression to T1D and improves prediction along T1D stages in autoantibody-positive relatives.

Type of Medium: Online Resource

ISSN: 0149-5992 , 1935-5548

URL: Article

DOI: 10.2337/dc18-0087

Language: English

Publisher: American Diabetes Association

Publication Date: 2018

detail.hit.zdb_id: 1490520-6

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BTU Cottbus

Wissenschaftspark Albert Einstein

EUV Frankfurt

TH Wildau

FH Potsdam

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