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Silt-rich meltwater plume deposits (MPDs) analyzed from marine sediment cores have elucidated relationships that are clearly connected, yet difficult to constrain, between subglacial hydrology, ice-marginal landforms, and grounding-zone retreat patterns for several glacial catchments. Few attempts have been made to infer details of subglacial hydrology, such as flow regime, geometry of drainage pathways, and mode(s) of sediment transport through time, from grain-scale characteristics of MPDs. Using sediment samples from MPD, till, and grounding-zone proximal diamicton collected offshore of six modern and relict glacial catchments in both hemispheres, we examine grain shape distributions and microtextures (collectively, grain micromorphology) of the silt fraction to explore whether grains are measurably altered from their subglacial sources via meltwater action. We find that 75 % of all imaged grains (n = 9400) can be described by 25 % of the full range of measured shape morphometrics, indicating grain shape homogenization through widespread and efficient abrasive processes in subglacial environments. Although silt grains from MPDs exhibit edge rounding more often than silt grains from tills, grain surface textures indicative of fluvial transport (e.g., v-shaped percussions) occur in only a modest number of grains. Furthermore, MPD grain surfaces retain several textures consistent with transport beneath glacial ice (e.g., straight or arcuate steps, (sub)linear fractures) in comparable abundances to till grains. Significant grain shape alteration in MPDs compared to their till sources is observed in sediments from glacial regions where (1) high-magnitude, potentially catastrophic meltwater drainage events are inferred from marine sediment records and (2) submarine landforms suggest supraglacial melt contributed to the subglacial hydrological budget. This implies that quantifiable grain shape alteration in MPDs could reflect a combination of high-energy flow of subglacial meltwater, persistent sediment entrainment, and/or long sediment transport distances through subglacial drainage pathways. Integrating grain micromorphology into analysis of MPDs in site-specific studies could therefore aid in distinguishing periods of persistent, well-connected subglacial discharge from periods of sluggish or disorganized drainage. In the wider context of deglacial marine sedimentary and bathymetric records, a grain micromorphological approach may bolster our ability to characterize ice response to subglacial meltwater transmission through time. This work additionally demonstrates that glacial and fluvial surface textures are retained on silt-sized quartz grains in adequate amounts for microtexture analysis, which has heretofore been conducted exclusively on the sand fraction. Therefore, grain microtextures can be examined on silt-rich glaciogenic deposits that contain little to no sand as a means to evaluate sediment transport processes.

The increasing anthropogenic CO2 forcing of the climate system calls for a better understanding of how polar ice sheets may respond to accelerating global warming. The sensitivity of the Greenland ice sheet to polar amplification, changes in ocean heat transport, and deteriorating perennial sea ice conditions makes the Northeast Greenland margin a pertinent location with respect to understanding the impact of climate change on ice sheet instability and associated sea level rise. Throughout the Cenozoic, ocean heat fluxes toward and along Northeast Greenland have been controlled by water mass exchanges between the Arctic and Atlantic oceans. A key element here is the current flow through oceanic gateways, notably the Fram Strait and the Greenland–Scotland Ridge. To gain a long-term (million-year) perspective of ice sheet variability in this region, it is essential to understand the broader context of ice–ocean–tectonic interactions. Coupling between the ice sheet, the subsurface, the ocean, and sea ice are readily observable today in Northeast Greenland, but geological records to illuminate long-term trends and their interplay with other parts of the global climate system are lacking. Consequently, the NorthGreen workshop was organized by the Geological Survey of Denmark and Greenland in collaboration with Aarhus (Denmark) and Stockholm (Sweden) universities in November 2022 to develop mission-specific platform (MSP) proposals for drilling the Northeast Greenland margin under the umbrella of the MagellanPlus Workshop Series Programme of the European Consortium for Ocean Research Drilling (ECORD). Seventy-one participants representing a broad scientific community discussed key scientific questions and primary targets that could be addressed through scientific drilling in Northeast Greenland. Three pre-proposals were initiated during the workshop targeting Morris Jesup Rise, the Northeast Greenland continental shelf, and Denmark Strait.

Using a conceptual model, we examine how hydraulically controlled exchange flows in silled fjords affect the relationship between the basal glacier melt and the features of warm intermediate Atlantic Water (AW) outside the fjords. We show that an exchange flow can be forced to transit into the hydraulic regime if the AW interface height decreases, the AW temperature increases, or the production of glacially modified water is boosted by subglacial discharge. In the hydraulic regime, the heat transport across the sill becomes a rate-limiting factor for the basal melt, which is suppressed. An interplay between processes near the ice–ocean boundary and the hydraulically controlled exchange flow determines the melt dynamics, and the sensitivity of the basal melt to changes in the AW temperature is reduced. The model results are discussed in relation to observations from the Petermann, Ryder, and 79∘ N glaciers in northern Greenland.

We report the results of amino acid racemization (AAR) analyses of aspartic acid (Asp) and glutamic acid (Glu) in the planktic Neogloboquadrina pachyderma, and the benthic Cibicidoides wuellerstorfi, foraminifera species collected from sediment cores from the Arctic Ocean. The cores were retrieved at various deep-sea sites of the Arctic, which cover a large geographical area from the Greenland and Iceland seas (GIS) to the Alpha and Lomonosov ridges in the central Arctic Ocean. Age models for the investigated sediments were developed by multiple dating and correlation techniques, including oxygen isotope stratigraphy, magnetostratigraphy, biostratigraphy, lithostratigraphy, and cyclostratigraphy. The extent of racemization (D/L values) was determined on 95 samples (1028 subsamples) and shows a progressive increase downcore for both foraminifera species. Differences in the rates of racemization between the species were established by analysing specimens of both species from the same stratigraphic levels (n=21). Aspartic acid (Asp) and glutamic acid (Glu) racemize on average 16 ± 2 % and 23 ± 3 % faster, respectively, in C. wuellerstorfi than in N. pachyderma. The D/L values increase with sample age in nearly all cases, with a trend that follows a simple power function. Scatter around least-squares regression fits are larger for samples from the central Arctic Ocean than for those from the Nordic Seas. Calibrating the rate of racemization in C. wuellerstorfi using independently dated samples from the Greenland and Iceland seas for the past 400 ka enables estimation of sample ages from the central Arctic Ocean, where bottom water temperatures are presently relatively similar. The resulting ages are older than expected when considering the existing age models for the central Arctic Ocean cores. These results confirm that the differences are not due to taxonomic effects on AAR and further warrant a critical evaluation of existing Arctic Ocean age models. A better understanding of temperature histories at the investigated sites, and other environmental factors that may influence racemization rates in central Arctic Ocean sediments, is also needed.

The oxygen isotopic composition of benthic foraminiferal tests (δ18Ob) is one of the pre-eminent tools for correlating marine sediments and interpreting past terrestrial ice volume and deep-ocean temperatures. Despite the prevalence of δ18Ob applications to marine sediment cores over the Quaternary, its use is limited in the Arctic Ocean because of low benthic foraminiferal abundances, challenges with constructing independent sediment core age models, and an apparent muted amplitude of Arctic δ18Ob variability compared to open-ocean records. Here we evaluate the controls on Arctic δ18Ob by using ostracode Mg/Ca paleothermometry to generate a composite record of the δ18O of seawater (δ18Osw) from 12 sediment cores in the intermediate to deep Arctic Ocean (700–2700 m) that covers the last 600 kyr based on biostratigraphy and orbitally tuned age models. Results show that Arctic δ18Ob was generally higher than open-ocean δ18Ob during interglacials but was generally equivalent to global reference records during glacial periods. The reduced glacial–interglacial Arctic δ18Ob range resulted in part from the opposing effect of temperature, with intermediate to deep Arctic warming during glacials counteracting the whole-ocean δ18Osw increase from expanded terrestrial ice sheets. After removing the temperature effect from δ18Ob, we find that the intermediate to deep Arctic experienced large (≥1 ‰) variations in local δ18Osw, with generally higher local δ18Osw during interglacials and lower δ18Osw during glacials. Both the magnitude and timing of low local δ18Osw intervals are inconsistent with the recent proposal of freshwater intervals in the Arctic Ocean during past glaciations. Instead, we suggest that lower local δ18Osw in the intermediate to deep Arctic Ocean during glaciations reflected weaker upper-ocean stratification and more efficient transport of low-δ18Osw Arctic surface waters to depth by mixing and/or brine rejection.

The Arctic's glacial history has classically been interpreted from marine records in terms of the fluctuations of the Eurasian and North American ice sheets. However, the extent and timing of the East Siberian Ice Sheet (ESIS) have remained uncertain. A recently discovered glacially scoured cross-shelf trough extending to the edge of the continental shelf north of the De Long Islands has provided additional evidence that glacial ice existed on parts of the East Siberian Sea (ESS) during previous glacial periods MIS 6 and 4. This study concentrates on defining the heavy mineral signature of glacigenic deposits from the East Siberian continental margin which were collected during the 2014 SWERUS-C3 expedition. The cores studied are 20-GC1 from the East Siberian shelf, 23-GC1 and 24-GC1 from the De Long Trough (DLT), and 29-GC1 from the southern Lomonosov Ridge (LR). Heavy mineral assemblages were used to identify prominent parent rocks in hinterland and other sediment source areas. The parent rock areas include major eastern Siberian geological provinces such as the Omolon massif, the Chukotka fold belt, the Verkhoyansk fold belt, and possibly the Okhotsk–Chukotka volcanic belt. The primary riverine sources for the ESS sediments are the Indigirka and Kolyma rivers, the material of which was glacially eroded and re-deposited in the DLT. The higher abundances of amphiboles in the heavy mineral assemblages may indicate ESS paleovalley of the Indigirka River as a major pathway of sediments, while the Kolyma River paleovalley pathway relates to a higher share of pyroxenes and epidote. The mineralogical signature in the DLT diamicts, consisting predominantly of amphiboles and pyroxenes with a minor content of garnet and epidote, shows clear delivery from the eastern part of the ESIS. Although the physical properties of the DLT glacial diamict closely resemble a pervasive diamict unit recovered from the southern LR, their source material is slightly different. The assemblages with elevated amphibole and garnet content, along with higher titanite and ilmenite content of the southern LR ice-rafted diamict, emphasise the Verkhoyansk fold belt as a possible primary source. The presence of glacial sediments and the recovered glacial–tectonic features on the East Siberian continental shelf and slope, along with the results from this heavy mineral analysis, imply that glacial ice not only grew out of the East Siberian shelf but also from the De Long Islands, and that there was also ice rafting related sediment transportation to the southern LR from westerly sources, such as the Laptev Sea.

Abstract In preclinical studies, p53 loss of function impacts chemotherapy response, but this has not been consistently validated clinically. We trained a TP53-loss phenocopy gene expression signature from pan-cancer clinical samples in the TCGA. In vitro, the TP53-loss phenocopy signature predicted chemotherapy response across cancer types. In a clinical dataset of 3003 breast cancer samples treated with neoadjuvant chemotherapy, the TP53-loss phenocopy samples were 56% more likely to have a pathologic complete response (pCR), with a significant association between TP53-loss phenocopy and pCR in both ER positive and ER negative tumors. In an independent clinical validation in the I-SPY2 trial (N = 987), we confirmed the association with neoadjuvant chemotherapy pCR and found higher rates of chemoimmunotherapy response in TP53-loss phenocopy tumors compared to non-TP53-loss phenocopy tumors (64% vs. 28%). The TP53-loss phenocopy signature predicts chemotherapy response across cancer types in vitro, and in a proof-of-concept clinical validation is associated with neoadjuvant chemotherapy response across multiple clinical breast cancer cohorts.

Background: Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phenotypes of individuals with CDG-1 syndromes, most of which are inherited as autosomal recessive traits, although X-linked inheritance has also been reported. Pathogenic variants in the asparagine-linked glycosylation 13 homolog (ALG13) gene have been implicated in the aetiology of developmental and epileptic encephalopathy (DEE) 36 (OMIM:*300776, DEE36). The NM_001099922.3:c.320A>G; p.(Asn107Ser) variant is the most frequently described pathogenic variant in ALG13, with 59 females and 2 males with this variant reported to date., Methods: We report on a male with a de novo, hemizygous variant in ALG13: c.320A>G; p.(Asn107Ser), whose phenotype resembles that of two previously reported males with the same variant., Results: All three males have a de novo mutation, infantile spasms, DEE, drug-resistant epilepsy, intellectual disability, dysmorphic findings, recurrent infections, skeletal anomalies, brain abnormalities and a movement disorder: a phenotype not consistently reported in males with other pathogenic variants in ALG13., Conclusion: The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype-phenotype correlation., (© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Ataxia telangiectasia (A-T) (OMIM 208900) is an autosomal recessive multisystem disorder characterised by progressive cerebellar ataxia, telangiectasias, immunodeficiency and a predisposition to malignancy. 'Variant' A-T has later onset of neurological symptoms and slower progression compared with the 'classic' form. A woman presented with short stature in late childhood. Karyotype revealed rearrangements involving chromosomes 7 and 14. A chromosomal breakage disorder gene panel demonstrated compound heterozygote mutations in her ATM gene including one mutation c.7271T>G with residual ATM function, confirming the diagnosis of variant A-T. Since diagnosis, she has developed progressive cerebellar ataxia and telangiectasias. Long-standing restrictive and aversive feeding behaviours presented challenges for her management and necessitated gastrostomy., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Central Arctic, interglacial intervals have traditionally been associated with diverse and intense bioturbation, and abundant foraminifera, interpreted as indicating relatively low sea-ice concentrations and productive surface waters, while glacial intervals, typically barren, support the inverse. In this respect, the Yermak Plateau is anomalous. Biomarker studies suggest that glacial intervals were characterized by comparatively open water, while interglacials are marked by severe sea-ice conditions. Here we study downcore Ethological Ichno Quotient (EIQ) variations in trace fossils and bioturbation to test the hypothesis that different ethological classes vary in accordance with late Pleistocene changes in sea-ice extent, with deposit feeders increasing during reduced sea-ice cover and chemosymbiotic traces increasing during periods of thick perennial sea-ice conditions. Our results generally demonstrate that the abundance of traces like Planolites, Scolicia, and burrows produced by deposit feeders increase during episodes of seasonal sea-ice cover. In contrast, intervals with more severe sea-ice conditions are characterized by chemosymbiotic traces such as Chondrites and Trichichnus/Mycellia, suggesting lower food delivery and poorly ventilated bottom water conditions. The study thus confirms previous reconstructions of sea-ice conditions on the Yermak Plateau during interglacials, demonstrating that bioturbation variation provides insights into bentho-pelagic coupling under variable sea ice regimes in the Arctic Ocean., (© 2023. Springer Nature Limited.)

International incidence rates (IRs) and trends of childhood type 1 diabetes (T1D) vary. Recent data from Ireland and other high incidence countries suggested a stabilisation in IRs of T1D in children aged under 15 years. Our primary objective was to report the IR of T1D in children in Ireland from 2019 to 2021 and evaluate if age, sex and season of diagnosis had changed. Incident cases of T1D in those aged under 15 years were identified prospectively by clinicians nationally and reported to the Irish Childhood Diabetes National Register (ICDNR). Following case verification, capture-recapture methodology was applied, and IRs calculated. Numbers of children including age, sex and season of diagnosis per year were evaluated. There were 1027 cases, 542 males (53%). The direct standardised incidence rates (SIRs) increased by 21% overall and were 31.1, 32.2 and 37.6/100,000/year, respectively, with no significant sex difference. The highest IRs were in the 10-14-year category until 2021, then changed to the 5-9-year category (40% of cases). Whilst autumn and winter remain dominant diagnostic seasons, seasonality differed in 2021 with a greater number presenting in spring., Conclusion: The incidence of childhood T1D in Ireland is increasing, observed prior to the COVID-19 pandemic, and shifting to an earlier age at diagnosis for the first time. The pattern of seasonality also appears to have changed. This may reflect an increased severity of diabetes with important implications for healthcare providers., What Is Known: • Ireland has a very high incidence of T1D in childhood, which had stabilised following a rapid rise, similar to other high incidence countries. • The incidence rate is consistently highest in older children (10-14 years)., What Is New: • Irish IR is no longer stable and has increased again, with the highest incidence occurring in the younger 5-9 age category for the first time. • The seasonality of diagnosis has changed during the COVID-19 pandemic years of 2020-2021., (© 2023. The Author(s).)

Competing Interests: Declaration of Competing Interest None.

Aim: To estimate the prevalence, and evaluate presentation, treatment response, treatment side effects, and long-term seizure outcomes in all known cases of children with Down syndrome and infantile spasms on the island of Ireland., Method: This was a 10-year retrospective multicentre review of clinical records and investigations, focusing on treatment response, side effects, and long-term outcomes., Results: The prevalence of infantile spasms in Down syndrome was 3.0% during the study period. Fifty-four infants were identified with median age of spasm onset at 201 days (interquartile range [IQR] 156-242). Spasm cessation was achieved in 88% (n=46) at a median of 110 days (IQR 5-66). The most common first-line medications were prednisolone (n=20, 37%), vigabatrin (n=18, 33.3%), and sodium valproate (n=9, 16.7%). At follow-up (median age 23.7mo; IQR 13.4-40.6), 25% had ongoing seizures and 85% had developmental concerns. Treatment within 60 days did not correlate with spasm cessation. Seventeen children (31%) experienced medication side effects, with vigabatrin accounting for 52%., Interpretation: Prednisolone is an effective and well-tolerated medication for treating infantile spasms in Down syndrome. Despite the high percentage of spasm cessation, developmental concerns and ongoing seizures were common., (© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)