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In polygynous species, the sperm economy hypothesis predicts that males can adjust the amount of their ejaculate during copulation in response to (1) individual traits of females according to potential female fecundity, (2) future mating opportunities, and (3) risk of sperm competition. We tested this hypothesis in the crab Metacarcinus edwardsii by performing laboratory mating experiments to compare the response of males (sperm number and ejaculate weight delivered) in 3 sex-ratio scenarios: (1) equal, 1 female:1 male; (2) male-biased, 1 female:2 males; and (3) female-biased, 2 females:1 male. First, we determined if any variable, or an interaction between variables, could explain the variation in sperm or ejaculate amount delivered under an equal sex ratio. Second, we contrasted the ejaculate allocation among different sex-ratio scenarios. Under an equal sex ratio, males of M. edwardsii did not adjust their ejaculate allocation in response to any female trait. Male size was positively related to ejaculate delivery, indicating that the pair of vasa deferentia has ejaculate reserves that scale exponentially with male size. However, larger males delivered disproportionally more seminal fluid than sperm. Under a female-biased sex ratio, males did not show plasticity in their ejaculate allocation, but they increased their ejaculate investment (23%) per female under a male-biased sex ratio (i.e. risk of sperm competition). M. edwardsii presented a low level of ejaculate allocation, responding only when competitive males were perceived. In species with trans-molt sperm retention and long ejaculate storage, the risk of sperm competition is present all the time; therefore, males do not economize ejaculate even if more receptive females are available.

Background : Hereditary transthyretin-related amyloidosis is a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene (hATTR amyloidosis). Objective: The current study describes the demographic, clinical, and genetic characteristics of patients with suspected hATTR amyloidosis. Methods : This study is part of the "Hereditary transthyretin-related amyloidosis and longitudinal monitoring of TTR -positive patients" (TRAMmoni TTR ) study. This study included 3167 participants, along with their clinical details. Principal component (PC) analysis was used to analyze their clinical symptomatology. Next-generation sequencing of the TTR gene was performed and genotype-phenotype relationships were investigated. We compared the demographic and clinical characteristics using the principal components (PCs) and also compared participants with and without the TTR pathogenic variants. Results: We identified five main clinical phenotypes out of 22 single symptoms that explained 49% of the variation. The first two PCs referred to polyneuropathy and cardiomyopathy. We found significant differences between gender and PC-polyneuropathy and PC-cardiomyopathy, with male over-representation in the higher quantiles of PC-polyneuropathy and male under-representation in the lowest quantiles of PC-cardiomyopathy. We identified 92 participants with hATTR (3%), exhibiting 17 unique heterozygous TTR variants. The p.Val50Met variant was the most frequent. Furthermore, 503 participants (20%) were identified with ATTR and no relevant TTR variants (ATTRwt). We detected significant differences between the ATTRwt and hATTR groups, with male gender predominance in only the ATTRwt group and a positive family history of polyneuropathy and/or cardiomyopathy among the hATTR participants. Conclusions : The current clinical and genetic characterization of this cohort serves as a foundation for further longitudinal monitoring and assessment.

The increasing reliance on fossil fuels and the growing accumulation of organic waste necessitates the exploration of sustainable energy alternatives. Anaerobic digestion (AD) presents one such solution by utilizing secondary biomass to produce biogas while reducing greenhouse gas emissions. Given the crucial role of microbial activity in anaerobic digestion, a deeper understanding of the microbial community is essential for optimizing biogas production. While metagenomics has emerged as a valuable tool for unravelling microbial composition and providing insights into the functional potential in biodigestion, it falls short of interpreting the functional and metabolic interactions, limiting a comprehensive understanding of individual roles in the community. This emphasizes the significance of expanding the scope of metagenomics through innovative tools that highlight the often-overlooked, yet crucial, role of microbiota in biomass digestion. These tools can more accurately elucidate microbial ecological fitness, shared metabolic pathways, and interspecies interactions. By addressing current limitations and integrating metagenomics with other omics approaches, more accurate predictive techniques can be developed, facilitating informed decision-making to optimize AD processes and enhance biogas yields, thereby contributing to a more sustainable future., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Ostos, Flórez-Pardo and Camargo.)

Background: Perceived age (PA) has been associated with mortality, genetic variants linked to ageing and several age-related morbidities. However, estimating PA in large datasets is laborious and costly to generate, limiting its practical applicability., Objectives: To determine if estimating PA using deep learning-based algorithms results in the same associations with morbidities and genetic variants as human-estimated perceived age., Methods: Self-supervised learning (SSL) and deep feature transfer (DFT) deep learning (DL) approaches were trained and tested on human-estimated PAs and their corresponding frontal face images of middle-aged to elderly Dutch participants (n = 2679) from a population-based study in the Netherlands. We compared the DL-estimated PAs with morbidities previously associated with human-estimated PA as well as genetic variants in the gene MC1R; we additionally tested the PA associations with MC1R in a new validation cohort (n = 1158)., Results: The DL approaches predicted PA in this population with a mean absolute error of 2.84 years (DFT) and 2.39 years (SSL). In the training-test dataset, we found the same significant (p < 0.05) associations for DL PA with osteoporosis, ARHL, cognition, COPD and cataracts and MC1R, as with human PA. We also found a similar but less significant association for SSL and DFT PAs (0.69 and 0.71 years per allele, p = 0.008 and 0.011, respectively) with MC1R variants in the validation dataset as that found with human, SSL and DFT PAs in the training-test dataset (0.79, 0.78 and 0.71 years per allele respectively; all p < 0.0001)., Conclusions: Deep learning methods can automatically estimate PA from facial images with enough accuracy to replicate known links between human-estimated perceived age and several age-related morbidities. Furthermore, DL predicted perceived age associated with MC1R gene variants in a validation cohort. Hence, such DL PA techniques may be used instead of human estimations in perceived age studies thereby reducing time and costs., (© 2024 The Author(s). Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.)

Background: Itch, common in dermatological conditions, is often accompanied by psychological distress and reduced quality of life. However, research on the prevalence and associated factors of itch with skin conditions in general populations is limited., Objectives: This cross-sectional study aimed to determine the lifetime prevalence of itch with skin conditions and to identify its associated factors in individuals aged > 50 years., Methods: Participants from the Rotterdam Study, a population-based cohort, were interviewed to assess whether they had ever had an itchy skin condition, defining lifetime itch with skin conditions. Over 20 demographic, lifestyle, dermatological and nondermatological factors were recorded. Multivariable logistic regression analysis explored associations between these factors and itch with skin conditions, reported as odds ratios (ORs) with 95% confidence intervals (CIs)., Results: In total, 5246 eligible participants were included (age range 51-100 years, median age 67; 56.0% women). The results revealed a -lifetime prevalence of 33.7% for itch with skin conditions. Factors significantly associated with itch were female sex (OR 1.26, 95% CI 1.11-1.43), body mass index (1.02, 1.01-1.03), self-reported atopic dermatitis (4.29, 3.74-4.92), presence of atopic dermatitis (1.97, 1.60-2.43), self--reported psoriasis (2.31, 1.77-3.01), presence of psoriasis (2.11, 1.55-2.87), self-reported dry skin (1.95, 1.73-2.20), self-reported asthma (1.40, 1.08-1.83), renal impairment (1.45, 1.17-1.79), and clinically relevant depressive (1.85, 1.52-2.25) and anxiety symptoms (1.36, 1.11-1.66)., Conclusions: This study reveals a substantial one-third lifetime prevalence of itch with skin conditions in individuals aged > 50 years. Significant associations with diverse lifestyle, demographic, dermatological and, intriguingly, nondermatological factors, including renal impairment, imply additional contributors to induction or persistence of itch in individuals with skin conditions., Competing Interests: Conflicts of interest No products produced by Unilever were tested in this study. However, it is possible that this study could be used to promote products and services in the future, leading to financial gain. L.M.P. has received consulting fees from Centogene. L.C. has received flash glucose sensors for research ­purposes. Other authors declare no conflict of interest., (© The Author(s) 2024. Published by Oxford University Press on behalf of British Association of Dermatologists.)

Background: Efficient identification of individuals at high risk of skin cancer is crucial for implementing personalized screening strategies and subsequent care. While Artificial Intelligence holds promising potential for predictive analysis using image data, its application for skin cancer risk prediction utilizing facial images remains unexplored. We present a neural network-based explainable artificial intelligence (XAI) approach for skin cancer risk prediction based on 2D facial images and compare its efficacy to 18 established skin cancer risk factors using data from the Rotterdam Study., Methods: The study employed data from the Rotterdam population-based study in which both skin cancer risk factors and 2D facial images and the occurrence of skin cancer were collected from 2010 to 2018. We conducted a deep-learning survival analysis based on 2D facial images using our developed XAI approach. We subsequently compared these results with survival analysis based on skin cancer risk factors using cox proportional hazard regression., Findings: Among the 2810 participants (mean Age = 68.5 ± 9.3 years, average Follow-up = 5.0 years), 228 participants were diagnosed with skin cancer after photo acquisition. Our XAI approach achieved superior predictive accuracy based on 2D facial images (c-index = 0.72, 95% CI: 0.70-0.74), outperforming that of the known risk factors (c-index = 0.59, 95% CI 0.57-0.61)., Interpretation: This proof-of-concept study underscores the high potential of harnessing facial images and a tailored XAI approach as an easily accessible alternative over known risk factors for identifying individuals at high risk of skin cancer., Funding: The Rotterdam Study is funded through unrestricted research grants from Erasmus Medical Center and Erasmus University, Rotterdam, Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. G.V. Roshchupkin is supported by the ZonMw Veni grant (Veni, 549 1936320)., Competing Interests: The authors declare the following financial interests which may be considered potential competing interests: The Erasmus MC Department of Dermatology has received an unrestricted research grant from SkinVision B.V. None of the authors received any direct fees for consulting or salary from the company. T.E. Sangers reports receiving personal consultancy fees from Mylan B.V. and speakers honoraria from Pfizer, Janssen-Cilag, UCB, and Eli Lilly. There are no other declarations of interest., (© 2024 The Author(s).)

Background: Although acne is a prevalent multifactorial inflammatory skin condition, few studies were performed in multiethnic populations., Objectives: To study the prevalence and determinants of acne in a multiethnic study at the start of puberty., Methods: This cross-sectional study is embedded in Generation R, a population-based prospective study from Rotterdam, the Netherlands. Three-dimensional facial photos at the center visit in 2016-2019 (of ∼13-year-olds) were used to grade acne severity using the Global Evaluation of the Acne Severity (GEA). Analyses were stratified by biological sex and explored through chi-square tests and multivariable ordinal logistic regression., Results: A total of 4561 children (51% girls) with a median age of 13.5 (IQR 13.3-13.6) were included. The visible acne prevalence (GEA 2-5) for girls vs boys was 62% vs 45% and moderate-to-severe acne (GEA 3-5) 14% vs 9%. Higher puberty stages (adjusted odds ratios: 1.38 [1.20-1.59] and 2.16 [1.86-2.51] for girls and boys, respectively) and darker skin colors V and VI (adjusted odds ratios: 1.90 [1.17-3.08] and 2.43 [1.67-3.56]) were associated with more severe acne in both sexes, and being overweight in boys (adjusted odds ratio: 1.58 [1.15-2.17])., Limitations: Cross-sectional design., Conclusions: Acne prevalence was high at the age of 13 years and was associated with advanced puberty, darker skin color, and weight status., Competing Interests: Conflicts of interest Author Witkam was financially supported by L’Oréal. Authors Dal Belo, Pourhamidi, Raynaud, Moreau, and Aguilar are employees of L’Oréal and had a role on the analysis and writing of the manuscript. The other authors have no conflicts of interest to declare., (Copyright © 2023 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Syndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported in three cases of syndromic thrombocytopenia. Here, we report two additional, unrelated individuals identified retrospectively in our data repository with heterozygous variants in RAP1B: NM&#95;001010942.2(RAP1B):c.35G>A, p.(Gly12Glu) (de novo) and NM&#95;001010942.2(RAP1B):c.178G>A, p.(Gly60Arg). Both individuals had thrombocytopenia, as well as congenital malformations, and neurological, behavioural, and dysmorphic features, in line with previous reports. Our data supports the causal role of monoallelic RAP1B variants that disrupt RAP1B GTPase activity in syndromic congenital thrombocytopenia., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The Rotterdam Study is a population-based cohort study, started in 1990 in the district of Ommoord in the city of Rotterdam, the Netherlands, with the aim to describe the prevalence and incidence, unravel the etiology, and identify targets for prediction, prevention or intervention of multifactorial diseases in mid-life and elderly. The study currently includes 17,931 participants (overall response rate 65%), aged 40 years and over, who are examined in-person every 3 to 5 years in a dedicated research facility, and who are followed-up continuously through automated linkage with health care providers, both regionally and nationally. Research within the Rotterdam Study is carried out along two axes. First, research lines are oriented around diseases and clinical conditions, which are reflective of medical specializations. Second, cross-cutting research lines transverse these clinical demarcations allowing for inter- and multidisciplinary research. These research lines generally reflect subdomains within epidemiology. This paper describes recent methodological updates and main findings from each of these research lines. Also, future perspective for coming years highlighted., (© 2024. Springer Nature B.V.)

Pediatric acute myeloid leukemia (pAML) is characterized by heterogeneous cellular composition, driver alterations and prognosis. Characterization of this heterogeneity and how it affects treatment response remains understudied in pediatric patients. We used single-cell RNA sequencing and single-cell ATAC sequencing to profile 28 patients representing different pAML subtypes at diagnosis, remission and relapse. At diagnosis, cellular composition differed between genetic subgroups. Upon relapse, cellular hierarchies transitioned toward a more primitive state regardless of subtype. Primitive cells in the relapsed tumor were distinct compared to cells at diagnosis, with under-representation of myeloid transcriptional programs and over-representation of other lineage programs. In some patients, this was accompanied by the appearance of a B-lymphoid-like hierarchy. Our data thus reveal the emergence of apparent subtype-specific plasticity upon treatment and inform on potentially targetable processes., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background/purpose: Cutaneous squamous cell carcinoma (cSCC) is one of the most common malignancies worldwide. While several environmental risk factors for cSCC are well established, there is conflicting evidence on cigarette smoking (and its potential causal effect) and cSCC risk. Furthermore, it is unclear if these potential associations represent causal, modifiable risk factors for cSCC development. This study aims to assess the nature of the associations between cigarette smoking traits (smoking initiation, amount smoked, and lifetime smoking exposure) and cSCC risk using two-sample Mendelian randomization analyses., Methods: Genetic instruments, based on common genetic variants associated with cigarette smoking traits ( P  < 5 × 10 -8 ), were derived from published genome-wide association studies (GWASs). For cSCC, we used GWAS summary statistics from the Kaiser Permanente GERA cohort (7701 cSCC cases and 60,167 controls; all non-Hispanic Whites)., Results: We found modest evidence that genetically determined lifetime smoking was associated with cSCC (inverse-variance weighted method: OR[95% CI] = 1.47[1.09-1.98]; P  = .012), suggesting it may be a causal risk factor for cSCC. We did not detect any evidence of association between genetically determined smoking initiation or amount smoked and cSCC risk., Conclusion: Study findings highlight the importance of smoking prevention and may support risk-stratified cSCC screening strategies based on carcinogen exposure and other genetic and clinical information., Competing Interests: None disclosed., (© 2023 by the American Academy of Dermatology, Inc. Published by Elsevier Inc.)

Population-based studies available to analyze the prevalence, risk factors, and longitudinal outlook of actinic keratoses (AKs) are limited. These features mentioned earlier were assessed using Rotterdam study participants aged ≥40 years who underwent a full-body skin examination by a dermatology-trained physician. ORs with 95% confidence intervals were calculated for the associations between risk factors and the presence of AK. Among 8,239 eligible participants, the prevalence of one or more AKs was 21.1% (95% confidence interval = 20.2-22.0) and was higher in men. Male sex, age, lighter hair and eye color, baldness, genetic risk score, and digital photoaging measures (digitally assessed pigmented spots, telangiectasias, and global facial wrinkling) had a positive association with AK. Cigarette smokers had reduced odds of having AK, with current smokers having the lowest risk. Among patients with two AK assessments, there was no difference in the presence of AK during follow-up between treated and untreated participants. In conclusion, genetic risk score and digital photoaging measures showed associations with increased lesion count. At the individual level, patients were most likely to decrease in AK severity group over time, possibly regardless of whether or not participants were treated., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our laboratory were analyzed. Patients' clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype-phenotype analysis was performed. The median age at diagnosis was 10.6 years (range 0-64.5 years), with 287 unique pathogenic/likely pathogenic (P/LP) variants identified, expanding NPC1 allelic heterogeneity. Importantly, 73 P/LP variants were previously unpublished. The most frequent variants detected were: c.3019C > G, p.(P1007A), c.3104C > T, p.(A1035V), and c.2861C > T, p.(S954L). Loss of function (LoF) variants were significantly associated with earlier age at diagnosis, highly increased biomarker levels, and a visceral phenotype (abnormal abdomen and liver morphology). On the other hand, the variants p.(P1007A) and p.(S954L) were significantly associated with later age at diagnosis (p < 0.001) and mildly elevated biomarker levels (p ≤ 0.002), consistent with the juvenile/adult form of NPC1. In addition, p.(I1061T), p.(S954L), and p.(A1035V) were associated with abnormality of eye movements (vertical supranuclear gaze palsy, p ≤ 0.05). We describe the largest and most heterogenous cohort of NPC1 patients published to date. Our results suggest that besides its utility in variant classification, the biomarker PPCS might serve to indicate disease severity/progression. In addition, we establish new genotype-phenotype relationships for "frequent" NPC1 variants., (© 2023. The Author(s).)

Background: Detection of measurable residual disease detection (MRD) by flow cytometry after the first course of chemotherapy is a standard measure of early response in patients with acute myeloid leukemia (AML). Myeloid leukemia associated with Down Syndrome (ML-DS) is a distinct form of AML. Differences in steady-state and regenerating hematopoiesis between patients with or without DS are not well understood. This understanding is essential to accurately determine the presence of residual leukemia in patients with ML-DS., Methods: A standardized antibody panel defined quantitative antigen expression in 115 follow-up bone marrow (BM) aspirates from 45 patients following chemotherapy for ML-DS or DS precursor B-cell acute lymphoblastic leukemia (B-ALL-DS) with the "difference from normal (ΔN)" technique. When possible, FISH and SNP/CGH microarray studies were performed on sorted cell fractions., Results: 93% of BM specimens submitted post chemotherapy had a clearly identifiable CD34 + CD56 + population present between 0.06% and 2.6% of total non-erythroid cells. An overlapping CD34 + HLA-DR heterogeneous population was observed among 92% of patients at a lower frequency (0.04%-0.8% of total non-erythroid cells). In B-ALL-DS patients, the same CD34 + CD56 + HLA-DR heterogeneous expression was observed. FACS-FISH/Array studies demonstrated no residual genetic clones in the DS-specific myeloid progenitor cells., Conclusions: Non-malignant myeloid progenitors in the regenerating BM of patients who have undergone chemotherapy for either ML-DS or B-ALL-DS express an immunophenotype that is different from normal BM of non-DS patients. Awareness of this DS-specific non-malignant myeloid progenitor is essential to the interpretation of MRD by flow cytometry in patients with ML-DS., (© 2023 International Clinical Cytometry Society.)

The echinoderm Loxechinus albus has a symbiotic relationship with the pinnotherid crustacean Pinnaxodes chilensis . Females of the crustacean develop in the terminal section of the sea urchin's digestive system, remaining there for life. This relationship has been suggested as commensalism. However, a potential negative impact on gonadal development and on the morphology of the sea urchin's digestive system suggest that it is instead parasitic. To study if there is a negative impact of the crustacean symbiont on the host, specimens of L. albus of all sizes were collected from a rocky shore in southern Chile. The gonadal and somatic tissues of sea urchins that were and were not harboring the pinnotherid were weighed and compared. Our results show that the presence of the pinnotherid was related to sea urchin gonads of lower biomass, decreased gonadosomatic index levels, and alterations in the morphology of the terminal portion of the host digestive system. The lower gonadal biomass suggests a negative impact on gamete production as well as a diversion of energy due to changes of the digestive system tissues and the potential consumption of algal food by the resident crustacean. These results suggest that the prolonged relationship between these two species is one of parasitism rather than one of commensalism.

Background: Looking older for one's chronological age is associated with a higher mortality rate. Yet it remains unclear how perceived facial age relates to morbidity and the degree to which facial ageing reflects systemic ageing of the human body., Objectives: To investigate the association between ΔPA and age-related morbidities of different organ systems, where ΔPA represents the difference between perceived age (PA) and chronological age., Methods: We performed a cross-sectional analysis on data from the Rotterdam Study, a population-based cohort study in the Netherlands. High-resolution facial photographs of 2679 men and women aged 51.5-87.8 years of European descent were used to assess PA. PA was estimated and scored in 5-year categories using these photographs by a panel of men and women who were blinded for chronological age and medical history. A linear mixed model was used to generate the mean PAs. The difference between the mean PA and chronological age was calculated (ΔPA), where a higher (positive) ΔPA means that the person looks younger for their age and a lower (negative) ΔPA that the person looks older. ΔPA was tested as a continuous variable for association with ageing-related morbidities including cardiovascular, pulmonary, ophthalmological, neurocognitive, renal, skeletal and auditory morbidities in separate regression analyses, adjusted for age and sex (model 1) and additionally for body mass index, smoking and sun exposure (model 2)., Results: We observed 5-year higher ΔPA (i.e. looking younger by 5 years for one's age) to be associated with less osteoporosis [odds ratio (OR) 0.76, 95% confidence interval (CI) 0.62-0.93], less chronic obstructive pulmonary disease (OR 0.85, 95% CI 0.77-0.95), less age-related hearing loss (model 2; B = -0.76, 95% CI -1.35 to -0.17) and fewer cataracts (OR 0.84, 95% CI 0.73-0.97), but with better global cognitive functioning (g-factor; model 2; B = 0.07, 95% CI 0.04-0.10)., Conclusions: PA is associated with multiple morbidities and better cognitive function, suggesting that systemic ageing and cognitive ageing are, to an extent, externally visible in the human face., Competing Interests: Conflicts of interest D.A.G. is a Unilever employee and as an author had an influence on the analyses and interpretation of the results. Although no products were tested, these results could be used more generally to promote antiageing products and services that lead to financial gain for Unilever., (© The Author(s) 2023. Published by Oxford University Press on behalf of British Association of Dermatologists. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Ice scouring is one of the strongest agents of disturbance in nearshore environments at high latitudes. In depths, less than 20 m, grounding icebergs reshape the soft-sediment seabed by gouging furrows called ice pits. Large amounts of drift algae (up to 5.6 kg/m 2 ) that would otherwise be transported to deeper water accumulate inside these features, representing an underestimated subsidy. Our work documents the distribution and dimensions of ice pits in Fildes Bay, Antarctica, and evaluates their relationship to the biomass and species composition of algae found within them. It also assesses the rates of deposition and advective loss of algae in the pits. The 17 ice pits found in the study area covered only 4.2% of the seabed but contained 98% of drift algal biomass, i.e., 60 times the density (kg/m 2 ) of the surrounding seabed. Larger ice pits had larger and denser algal accumulations than small pits and had different species compositions. The accumulations were stable over time: experimentally cleared pits regained initial biomass levels after one year, and advective loss was less than 15% annually. Further research is needed to understand the impacts of ice scouring and subsequent algal retention on ecosystem functioning in this rapidly changing polar environment.

Probiotics and synbiotics are used to treat chronic illnesses due to their roles in immune system modulation and anti-inflammatory response. They have been shown to reduce inflammation in a number of immune-related disorders, including systemic lupus erythematosus (SLE), human immunodeficiency virus (HIV), and chronic inflammatory skin conditions such as psoriasis and atopic dermatitis (AD). Akkermansia muciniphila ( A. muciniphila ) and Faecalibacterium prausnitzii ( F. prausnitzii ) are two different types of bacteria that play a significant part in this function. It has been established that Akkermansia and Faecalibacterium are abundant in normal populations and have protective benefits on digestive health while also enhancing the immune system, metabolism, and gut barrier of the host. They have the potential to be a therapeutic target in diseases connected to the microbiota, such as immunological disorders and cancer immunotherapy. There has not been a review of the anti-inflammatory effects of Akkermansia and Faecalibacterium , particularly in immunological diseases. In this review, we highlight the most recent scientific findings regarding A. muciniphila and F. prausnitzii as two significant gut microbiota for microbiome alterations and seek to provide cutting-edge insight in terms of microbiome-targeted therapies as promising preventive and therapeutic tools in immune-related diseases and cancer immunotherapy.

To study how Odontaster validus can influence the spatial structure of Antarctic benthic communities and how they respond to disturbance, it is necessary to assess potential dietary shifts in different habitats. We investigated the diets of O. validus from Maxwell Bay and South Bay in the West Antarctic Peninsula. A multifaceted approach was applied including in situ observations of cardiac stomach everted contents, isotopic niche, and trophic diversity metrics. Results confirm the flexible foraging strategy of this species under markedly different environmental conditions, suggesting plasticity in resource use. The data also showed evidence of isotopic niche expansion, high δ 15 N values, and Nacella concinna as a common food item for individuals inhabiting a site with low seasonal sea ice (Ardley Cove), which could have significant ecological implications such as new trophic linkages within the Antarctic benthic community. These results highlight the importance of considering trophic changes of key species to their environment as multiple ecological factors can vary as a function of climatic conditions.

Reproduction involves high energetic costs which are related to behaviour and gamete production. In females energy allocation to gamete production has been well documented. However, estimations of male investment in seminal material are scarce. The present study aims to assess and compare male investment in four brachyuran species by determining biochemical substrates present in the vasa deferentia to subsequently estimate energetic investment during the reproductive cycle. We identified two groups with contrasting energy investments. Two species, Homalaspis plana and Romaleon setosum, showed high investment due to significant quantities of proteins and lipids. Both species are characterised by large and complex vasa deferentia, and the formation of a remarkably large sperm plug deposited to the female after copulation as a sperm competition avoidance strategy. In contrast, Metacarcinus edwardsii and Taliepus dentatus invested little energy in their smaller-sized and simpler vasa deferentia. Morpho-functional traits may play a key role in determining the investment, which may also be influenced by mechanisms (i.e. mating tactics) to prevent sperm competition and the intensity of polygyny. This study emphasises the high amount of energy males invest in seminal material and highlights the diversity of mating strategies in Brachyura, which are reflected even on the physiological level., (© 2022. The Author(s).)

Elucidating the processes responsible for maintaining the population connectivity of marine benthic species mediated by larval dispersal remains a fundamental question in marine ecology and fishery management. Understanding these processes becomes particularly important in areas with a biogeographic break and unidirectional water movement along the sides of the break. Based on variability at 4209 single-nucleotide polymorphisms in 234 individuals, we determine the genetic structure, temporal genetic stability, and gene flow among populations of the commercially important mola rock crab Metacarcinus edwardsii in a system in southern Chile with a biogeographic break at latitude 42°S. Specimens were collected at eight sites within its geographic distribution, with collection at four of these sites was performed twice. Using population genetic approaches, we found no evidence of geographic or temporal population differentiation. Similarly, we found no evidence of an effect on gene flow of the biogeographic break caused by the the West Wind Drift Current. Moreover, migration analyses supported gene flow among all sites but at different rates for different pairs of sites. Overall, our findings indicate that M. edwardsii comprises a single large population with high levels of gene flow among sites separated by over 1700 km and demonstrate temporal stability in its genetic structure., (© 2022. The Author(s).)

Genome size (GS) or DNA nuclear content is considered a useful index for making inferences about evolutionary models and life history in animals, including taxonomic, biogeographical, and ecological scenarios. However, patterns of GS variation and their causes in crustaceans are still poorly understood. This study aimed to describe the GS of five Neotropical Synalpheus non-gambarelloides shrimps ( S. apioceros, S. minus, S. brevicarpus, S. fritzmueller , and S. scaphoceris ) and compare the C-values of all Caridea infraorder in terms of geography and phylogenetics. All animals were sampled in the coast of São Paulo State, Brazil, and GS was assessed by flow cytometry analysis (FCA). The C-values ranged from 7.89 pg in S. apioceros to 12.24 pg in S. scaphoceris . Caridean shrimps had higher GS than other Decapoda crustaceans. The results reveal a tendency of obtaining larger genomes in species with direct development in Synalpheus shrimps. In addition, a tendency of positive biogeographical (latitudinal) correlation with Caridea infraorder was also observed. This study provides remarkable and new protocol for FCA (using gating strategy for the analysis), which led to the discovery of new information regarding GS of caridean shrimps, especially for Neotropical Synalpheus , which represents the second-largest group in the Caridea infraorder.

The purpose of this study was to test the hypothesis that the genetic diversity of commercially significant species of King Crabs ( Lithodes spp.) along the south-eastern Pacific (SEP) comprises different independent evolutionary units (IEUs) with spatially isolated distribution. Nine localities from inner and open waters along the SEP Chilean coast (39°S-55°S) were sampled. We analyzed sequences from 173 individuals for the mitochondrial gene Cytochrome oxidase I (COX-I), 151 individuals for the Internal Transcribed Spacer 1 (ITS) and 135 for the structural ribosomal RNA (28S). Genetic delimitation was performed through three analytical methods: ABGD, GMYC, and its Bayesian implementation, bGMYC. Bayesian phylogenetic analyses and haplotype networks were also performed. Divergence time between clades was assessed for the COX-I marker and estimated from known evolutionary rates for this marker in other crustacean species and fossil calibration from other Anomuran species. Delimitation analyses, phylogenetic analyses, and mitochondrial haplotype networks suggested the presence of two deeply divergent mitochondrial lineages of Lithodes in the SEP, referred to as Clade1 and Clade 2. Nuclear markers showed low phylogenetic resolution and therefore were unsuitable for molecular species delimitation. Divergence time analysis of the mitochondrial lineages suggests a separation between Clades of approximately 2.3 Mya. The divergence time obtained suggested that Pliocene glaciations and deglaciations cycles could be involved in hybridization events between Lithodes IEUs at southern tip of South American coasts. The different frequencies of Lithodes haplotypes in inner and open water environments along SEP coasts could be explained by events such as the last glacial maximum or by differences in the adaptation of each clade to different environments. These findings support the necessity of evaluating the taxonomic status of Lithodes individuals found along SEP coasts under an integrative taxonomy approach or through markers with other evolution rates than those already used., Competing Interests: None declared., (© 2022 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd.)

Globally, species distributions are shifting in response to environmental change, 1 and those that cannot disperse risk extinction. 2 Many taxa, including marine species, are showing poleward range shifts as the climate warms. 3 In the Southern Hemisphere, however, circumpolar oceanic fronts can present barriers to dispersal. 4 Although passive, southward movement of species across this barrier has been considered unlikely, 5 , 6 the recent discovery of buoyant kelp rafts on beaches in Antarctica 7 , 8 demonstrates that such journeys are possible. Rafting is a key process by which diverse taxa-including terrestrial, e.g., Lindo, 9 Godinot, 10 and Censky et al., 11 and marine, e.g., Carlton et al. 12 and Gillespie et al. 13 species-can cross oceans. 14 Kelp rafts can carry passengers 7 , 15-17 and thus can act as vectors for long-distance dispersal of coastal organisms. The small numbers of kelp rafts previously found in Antarctica 7 , 8 do not, however, shed much light on the frequency of such dispersal events. 18 We use a combination of high-resolution phylogenomic analyses (>220,000 SNPs) and oceanographic modeling to show that long-distance biological dispersal events in Southern Ocean are not rare. We document tens of kelp (Durvillaea antarctica) rafting events of thousands of kilometers each, over several decades (1950-2019), with many kelp rafts apparently still reproductively viable. Modeling of dispersal trajectories from genomically inferred source locations shows that distant landmasses are well connected, for example South Georgia and New Zealand, and the Kerguelen Islands and Tasmania. Our findings illustrate the power of genomic approaches to track, and modeling to show frequencies of, long-distance dispersal events., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2022 Elsevier Inc. All rights reserved.)

AbstractThe migratory behavior of freshwater shrimps may be affected by natural barriers in limnetic environments. This study evaluated the river areas separated by natural barriers, such as waterfalls, which affect the amphidromous shrimps' ( Potimirim brasiliana ) population features and reproductive aspects. Results indicate that in the Félix and Prumirim Rivers from southeastern Brazil shrimps show few differences in sampling areas, and these differences may not be causally related to the waterfalls. This is demonstrated by the absence of a pattern in the size and sex ratio in each area and the absence of a significant difference in most reproductive aspects. The presence of juveniles and reproductive individuals in all sampling areas strongly indicates a constant migration along them in both rivers, indicating that all individuals evaluated correspond to one single patchy population structure for each river. This migration conducted by P. brasiliana , such as its crawling behavior, demonstrated that it would be important to maintain the minimum number of individuals flowing between the different river sampling areas in this shrimp group. Thus, based on a helpful model observed in P. brasiliana , the results help us understand how natural barriers may affect the populations of amphidromous shrimp and how the migration behavior up- and downstream can help sustain the population. This premise can help future construction decisions and impacts of unnatural barriers, such as dams.

Background: Interactions between the skin barrier, immune system, and microbiome underlie the development of atopic dermatitis (AD)., Objective: To investigate the skin and nasal microbiome in relation to filaggrin gene (FLG) mutations., Methods: A cross-sectional study including 77 children with difficult-to-treat AD. The entire encoding region of FLG was screened for mutations using single molecule molecular inversion probes and next-generation sequencing. Bacterial swabs from the anterior nares, lesional and nonlesional skin were analyzed using 16S rRNA sequencing. For skin samples, additional qPCR was performed for Staphylococcus aureus and Staphylococcus epidermidis., Results: The prevalence of patients with a mutation in FLG was 40%, including 10 different mutations. Analyzing bacterial swabs from all three niches showed a significant effect for both niche and FLG mutation status on the overall microbiome composition. Using a subset analysis to test the effect of FLG mutation status per niche separately did not show a significant association to the microbiome. Shannon diversity and S. aureus abundance were significantly affected by the niche, but not by the presence of an FLG mutation., Conclusions: Our results suggest only a minor role for FLG mutation status on the overall microbiome, which is rather caused by differences in the present genera than by microbe richness and evenness., (© 2022 The Author(s) Published by S. Karger AG, Basel.)

Individual bacteria communicate by the release and interpretation of small molecules, a phenomenon known as quorum sensing (QS). We hypothesized that QS compounds extruded by Photorhabdus could be interpreted by Bacillus -a form of interspecies communication. We interrogate the structure-activity relationship within the recently discovered pyrone QS network and reveal the exquisite structural features required for targeted phenotypic behavior. The interruption of QS is an exciting, nonbiocidal approach to tackling infection, and understanding its nuances can only be achieved by studies such as this., Competing Interests: The authors declare no competing financial interest., (© 2021 The Authors. Published by American Chemical Society.)

Here, we describe four new species of Crellidae Dendy, 1922 and discuss characters and relationships from published molecular phylogenies including crellid sponges. New species proposed are Crella (Pytheas) chiloensis Fernandez, Gastaldi, Pardo Hajdu, sp. nov., from southern Chile (15 m depth), C. (P.) desventuradae Fernandez, Gastaldi, Zapata-Herndez Hajdu, sp. nov., from Desventuradas Archipelago (1020 m depth), Crella (P.) santacruzae Fernandez, Gastaldi, Thompson Hajdu, sp. nov., from deep waters off Argentina (750 m depth) and Crellomima sigmatifera Fernandez, Gastaldi Hajdu, sp. nov., from the Chilean fjords region (ca. 20 m depth). These new species are set apart from each other and from known species mainly due to aspects of their spiculation. Chelae microscleres and acanthostyles supply characters that might be used to infer phylogenetic relationships and to verify the monophyly of Crella Gray, 1867 and Crellidae, which has seemingly been contradicted by preliminary molecular data available in the systematics literature. Our own interpretation of phylogenetic affinities, in the light of morphological characters from previous taxonomic studies, argues for a classification reassessment of materials (vouchers) included in these molecular phylogenies, especially in the case of Crella incrustans (Carter, 1885). We argue that currently available molecular phylogenetic outcomes for crellid sponges are not supportive of the polyphyly of Crella and Crellidae.

Ultraviolet (UV) light and incompletely understood genetic and epigenetic variations determine skin color. Here we describe an UV- and microphthalmia-associated transcription factor (MITF)-independent mechanism of skin pigmentation. Targeting the mitochondrial redox-regulating enzyme nicotinamide nucleotide transhydrogenase (NNT) resulted in cellular redox changes that affect tyrosinase degradation. These changes regulate melanosome maturation and, consequently, eumelanin levels and pigmentation. Topical application of small-molecule inhibitors yielded skin darkening in human skin, and mice with decreased NNT function displayed increased pigmentation. Additionally, genetic modification of NNT in zebrafish alters melanocytic pigmentation. Analysis of four diverse human cohorts revealed significant associations of skin color, tanning, and sun protection use with various single-nucleotide polymorphisms within NNT. NNT levels were independent of UVB irradiation and redox modulation. Individuals with postinflammatory hyperpigmentation or lentigines displayed decreased skin NNT levels, suggesting an NNT-driven, redox-dependent pigmentation mechanism that can be targeted with NNT-modifying topical drugs for medical and cosmetic purposes., Competing Interests: Declaration of interests D.E.F. and E.R. have a patent filed on “Methods and compositions for enhancing skin pigmentation” (publication number WO/2016/077817, May 19, 2016.). D.E.F. has a financial interest in Soltego, Inc., a company developing SIK inhibitors for topical skin darkening treatments that might be used for a broad set of human applications. D.E.F.’s interests were reviewed and are managed by Massachusetts General Hospital and Partners HealthCare in accordance with their conflict-of-interest policies. B.P.K. is an inventor on patents and patent applications filed by Mass General Brigham that describe genome engineering technologies. B.P.K. consults for Avectas Inc., ElevateBio, and EcoR1 capital and is an advisor to Acrigen Biosciences. Q.Y.W. is a shareholder in Mymiel Skincare. L.I.Z. is a founder and stockholder of Fate Therapeutics, CAMP4 Therapeutics, Amagma Therapeutics, and Scholar Rock. He is a consultant for Celularity and Cellarity. H.W. is an employee and shareholder of Johnson and Johnson., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: Infants with less diverse gut microbiota seem to have higher risks of atopic diseases in early life, but any associations at school age are unclear., Objectives: This study sought to examine the associations of diversity, relative abundance, and functional pathways of stool microbiota with atopic diseases in school-age children., Methods: We performed a cross-sectional study within an existing population-based prospective cohort among 1440 children 10 years of age. On stool samples, 16S ribosomal RNA gene sequencing was performed, and taxonomic and functional tables were produced. Physician-diagnosed eczema, allergy, and asthma were measured by questionnaires, allergic sensitization by skin prick tests, and lung function by spirometry., Results: The α-diversity of stool microbiota was associated with a decreased risk of eczema (odds ratio [OR], 0.98; 95% CI, 0.97, 1.00), and β-diversity was associated with physician-diagnosed inhalant allergy (R 2  = 0.001; P = .047). Lachnospiraceae, Ruminococcaceae&#95;UCG-005, and Christensenellaceae&#95;R-7&#95;group species were associated with decreased risks of eczema, inhalant allergic sensitization, and physician-diagnosed inhalant allergy (OR range, 0.88-0.94; 95% CI range, 0.79-0.96 to 0.88-0.98), while Agathobacter species were associated with an increased risk of physician-diagnosed inhalant allergy (OR, 1.23; 95% CI, 1.08-1.42). Functional pathways related to heme and terpenoid biosynthesis were associated with decreased risks of physician-diagnosed inhalant allergy and asthma (OR range, 0.89-0.86; 95% CI range, 0.80-0.99 to 0.73-1.02). No associations of stool microbiota with lung function were observed., Conclusions: The diversity, relative abundance and functional pathways of stool microbiota were most consistently associated with physician-diagnosed inhalant allergy in school-age children and less consistently with other atopic diseases., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Mutations in the filaggrin gene (FLG) affect epidermal barrier function and increase the risk of atopic dermatitis (AD). We hypothesized that FLG mutations affect immune cell composition in a general pediatric population. Therefore, we investigated whether school-aged children with and without FLG mutations have differences in T- and B-cell subsets., Methods: This study was embedded in a population-based prospective cohort study, the Generation R Study, and included 523 children of European genetic ancestry aged 10 years. The most common FLG mutations in the European population (R501X, S1085CfsX36, R2447X, and S3247X) were genotyped. Additionally, 11-color flow cytometry was performed on peripheral blood samples to determine helper T (Th), regulatory T (Treg), and CD27 + and CD27 - memory B cells. Subset analysis was performed in 358 non-AD and 102 AD cases, assessed by parental questionnaires., Results: FLG mutations were observed in 8.4% of the total population and in 15.7% of the AD cases. Children with any FLG mutation had higher Th22 cell numbers compared to FLG wild-type children in the general and non-AD population. Children with and without FLG mutations had no difference in Th1, Th2, Th17, Treg, or memory B-cell numbers. Furthermore, in children with AD, FLG mutation carriership was not associated with differences in T- and B-cell subsets., Conclusions: School-aged children of a general population with FLG mutations have higher Th22 cell numbers, which reflects the immunological response to the skin barrier dysfunction. FLG mutations did not otherwise affect the composition of the adaptive immunity in this general pediatric population., (© 2021 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

The Rotterdam Study is an ongoing prospective, population-based cohort study that started in 1989 in the city of Rotterdam, the Netherlands. The study aims to unravel etiology, preclinical course, natural history and potential targets for intervention for chronic diseases in mid-life and late-life. It focuses on cardiovascular, endocrine, hepatic, neurological, ophthalmic, psychiatric, dermatological, otolaryngological, locomotor, and respiratory diseases. In response to the COVID-19 pandemic, a substudy was designed and embedded within the Rotterdam Study. On the 20th of April, 2020, all living non-institutionalized participants of the Rotterdam Study (n = 8732) were invited to participate in this sub-study by filling out a series of questionnaires administered over a period of 8 months. These questionnaires included questions on COVID-19 related symptoms and risk factors, characterization of lifestyle and mental health changes, and determination of health care seeking and health care avoiding behavior during the pandemic. As of May 2021, the questionnaire had been sent out repeatedly for a total of six times with an overall response rate of 76%. This article provides an overview of the rationale, design, and implementation of this sub-study nested within the Rotterdam Study. Finally, initial results on participant characteristics and prevalence of COVID-19 in this community-dwelling population are shown., (© 2021. The Author(s).)

Background: Seborrheic dermatitis (SD) is a chronic inflammatory skin disease with a multifactorial aetiology. Malassezia yeasts have been associated with the disease but the role of bacterial composition in SD has not been thoroughly investigated., Objectives: To profile the bacterial microbiome of SD patients and compare this with the microbiome of individuals with no inflammatory skin disease (controls)., Methods: This was a cross sectional study embedded in a population-based study. Skin swabs were taken from naso-labial fold from patients with seborrheic dermatitis (lesional skin: n = 22; non-lesional skin SD: n = 75) and controls (n = 465). Sample collection began in 2016 at the research facility and is still ongoing. Shannon and Chao1 α- diversity metrics were calculated per group. Associations between the microbiome composition of cases and controls was calculated using multivariate statistics (permANOVA) and univariate statistics., Results: We found an increased α-diversity between SD lesional cases versus controls (Shannon diversity: Kruskal-Wallis rank sum: Chi-squared: 19.06; global p-value = 7.7x10-5). Multivariate statistical analysis showed significant associations in microbiome composition when comparing lesional SD skin to controls (p-value = 0.03;R2 = 0.1%). Seven out of 13 amplicon sequence variants (ASVs) that were significantly different between controls and lesional cases were members of the genus Staphylococcus, most of which showed increased composition in lesional cases, and were closely related to S. capitis S. caprae and S. epidermidis., Conclusion: Microbiome composition differs in patients with seborrheic dermatitis and individuals without diseases. Differences were mainly found in the genus Staphylococcus., Competing Interests: The authors have declared that no competing interests exist.

Background: An association has been reported between early life Staphylococcus aureus nasal carriage and higher risk of childhood eczema, but it is unclear whether this relationship is causal and associations with other bacterial species are unclear., Objective: To examine the associations of early life nasal and nasopharyngeal bacterial carriage with eczema phenotypes, and the direction of any associations identified., Methods: Among 996 subjects of a population-based prospective cohort study, nasal swabs for Staphylococcus  aureus, and nasopharyngeal swabs for Streptococcus pneumoniae, Moraxella catarrhalis and Haemophilus influenzae were collected and cultured from age 6 weeks to 6 years. Never, early, mid-, late transient and persistent eczema phenotypes were identified from parental-reported physician-diagnosed eczema from age 6 months until 10 years. Multinomial regression models and cross-lagged models were applied., Results: Staphylococcus aureus nasal carriage at 6 months was associated with an increased risk of early transient and persistent eczema (OR (95% CI): 2.69 (1.34, 5.39) and 4.17 (1.12, 15.51)). The associations between Staphylococcus aureus nasal carriage and eczema were mostly cross-sectional, and not longitudinal. No associations of Staphylococcus pneumoniae, Moraxella catarrhalis and Haemophilus influenza nasopharyngeal bacterial carriage with eczema and eczema phenotypes were observed (OR range (95% CI): 0.71 (0.35, 1.44) to 1.77 (0.84, 3.73))., Conclusions: Early life Staphylococcus aureus nasal carriage, but not Staphylococcus pneumoniae, Moraxella catarrhalis and Haemophilus influenza nasopharyngeal carriage, was associated with early transient and persistent eczema. Staphylococcus aureus nasal carriage and eczema were mostly cross-sectionally associated, and not longitudinally, making a causal relationship in either direction unlikely., (© 2021 The Authors. Clinical & Experimental Allergy published by John Wiley & Sons Ltd.)

Active predators obtain energy and nutrients from prey through complex processes in which the energy gained must exceed the energy invested in finding and ingesting the prey. In addition, the amount of energy available will vary with the prey that are selected for consumption. The muricid gastropod Acanthina monodon inhabits rocky shores, where it routinely feeds on the mytilids Semimytilus algosus and Perumytilus purpuratus. In this study, S. algosus was highly preferred by the predator (over 90% were eaten) versus P. purpuratus (only 9% were eaten) when offered a mixed diet. The energetic cost of attacking one S. algosus individual was 91 J bivalve-1 while for P. purpuratus it was slightly higher: 95 J bivalve-1. Also, whereas A. monodon required on average 19 h to consume S. algosus, successful attacks on P. purpuratus required about 32% more time (25 h). In addition, a longer resting time was needed by the predator after preying on P. purpuratus before it initiated another attack. Moreover, the active metabolic costs associated with successfully attacking the prey increased 3.2 times over the basal metabolic costs when attacking S. algosus, but only by 2.5 times when attacking P. purpuratus. The calculations associated with preying on each species showed that the energetic gain per unit time likely accounts for the predator's preference for attacking S. algosus, even though predation on both species provided net energy gains for the predator. However, as S. algosus occurs seasonally at our study site, P. purpuratus would probably also be consumed due to its constant availability throughout the whole year., Competing Interests: The authors have declared that no competing interests exist.