bluuebunny/crossref_metadata_2025_split huggingface dataset:
First Composite Woman-to-Woman Facial Transplantation in Turkey
Authors: Ozmen Selahattin , Findikcioglu Kemal , Sibar Serhat , Tuncer Serhan , Ayhan Suhan , Guz Galip , Unal Yusuf , Aslan Selcuk 
Published: December 2022

AbstractAfter the first face transplantation from woman to woman we performed in our clinic, it was aimed to eliminate the lack of knowledge about the subject in the literature by transferring our experiences and long-term results to the problems we had with the patient. A 20-year-old patient underwent partial osteomyocutaneous facial transplant (22nd facial transplant), which included 2 functional units of the face. The patient had no major problems in the early period and had a good aesthetic appearance. In the postoperative period, the patient ended her social isolation and adopted the transplanted face.In the late period, secondary surgical interventions, management of the problems caused by immunosuppression, and the patient's living in a remote location to our clinic were the difficulties encountered. Six revision surgeries were performed after the transplantation. Due to immunosuppression, opportunistic infections and metabolic problems required intermittent hospitalization. The patient died at the end of 56 months because of complications secondary to immunosuppression.A successful transplant involves the management of long-term problems rather than a successful tissue transfer in the early period. In today's conditions, long-term success can be achieved with a good patient compliance, as well as each team member should take an active role in the team at the transplantation centers. More case series are needed to adapt the standard treatment and follow-up protocols for solid organ transplantations for composite tissue allotransplantations. This will be possible by sharing the results and experiences transparently in the centers where face transplantation is performed worldwide.
Long-Term Outcomes in Patients With Peripheral Arterial Disease Who Undergo Free Flap Reconstruction for Chronic Lower Extremity Wounds
Authors: Bovill John D. , Huffman Samuel S. , Deldar Romina , Sayyed Adaah A. , Gupta Nisha J. , Truong Brian N. , Bekeny Jenna C. , Attinger Christopher E. , Akbari Cameron N. , Evans Karen K. 
Published: December 2022

BackgroundFree tissue transfer (FTT) is critical for limb salvage of chronic lower extremity (LE) wounds. In patients with peripheral arterial disease (PAD), FTT LE reconstruction can be challenging due to limited vessel selection for anastomosis. The study aims to evaluate our surgical and functional outcomes after FTT to LE in patients with PAD.MethodsA retrospective review identified patients who underwent LE free flap reconstruction between 2011 and 2021. All patients underwent preoperative arteriogram and subsequent FTT. Patients were classified into PAD or non-PAD cohorts, based on the presence of LE arterial stenoses or occlusions identified on arteriogram. Primary outcomes included complications, flap success, need for post-FTT vascular reintervention, limb salvage, and ambulatory status.ResultsA total of 253 patients underwent FTT to LE, with 84 patients (33.2%) in the PAD cohort. Patients with PAD had a higher prevalence of diabetes (83.3% vs 39.1%,P< 0.001) and end-stage renal disease (8.3% vs 2.4%,P= 0.028). Osteomyelitis was more common in the PAD group (73.8% vs 55.0%,P= 0.004). Free tissue transfer donor sites and flap composition were similar between cohorts. At a mean follow-up of 21.1 months, limb salvage rates were similar between non-PAD and PAD cohorts (90.5% vs 84.5%,P= 0.158), with no significant differences in ambulatory status or mortality. Higher complication rates occurred in the PAD cohort (38.1% vs 20.7%,P= 0.003), of which partial flap necrosis was more prevalent in the PAD group (6.0% vs 0.6%,P= 0.016). There was no difference in flap success rates between groups (P= 0.430). More postflap angiograms were performed in the PAD group (29.8% vs 7.1%,P< 0.001), with repeat percutaneous endovascular intervention performed in 68.0% of the PAD group versus 33.3% of the non-PAD group (P< 0.001).ConclusionsThis is the largest study to demonstrate excellent long-term limb salvage outcomes in patients with PAD who undergo FTT to LE. Percutaneous endovascular intervention and FTT are effective methods to achieve limb salvage in vasculopathic patients with chronic LE wounds.
De novoassembly and annotation of the Patagonian toothfish (Dissostichus eleginoides) genome
Authors: Ryder David , Stone David , Minardi Diana , Riley Ainsley , Avant Justin , Cross Lisa , Soeffker Marta , Davidson Deborah , Newman Andrew , Thomson Peter , Darby Chris , van Aerle Ronny 
Published: December 2022

AbstractPatagonian toothfish (Dissostichus eleginoides) is an economically and ecologically important fish species in the family Nototheniidae, found at depths between 70 and 2,500 meters on the southern shelves and slopes around the sub-Antarctic islands of the Southern Ocean. Genomic sequence data for this species is limited. Here, we report a high-quality assembly and annotation of theD. eleginoidesgenome, generated using a combination of Illumina, PacBio and Omni-C sequencing technologies. To aid the genome annotation, the transcriptome derived from a variety of toothfish tissues was also generated using both short and long read sequencing methods. The final genome assembly was 797.8 Mb with a N50 scaffold length of 3.5 Mb. Approximately 31.7% of the genome consisted of repetitive elements. A total of 35,543 putative protein-coding regions were identified, of which 50% have been functionally annotated. Transcriptomics analysis showed that approximately 64% of the predicted genes (22,617 genes) were found to be expressed in the tissues sampled. Comparative genomics analysis revealed that the anti-freeze glycoprotein (AFGP) locus ofD. eleginoidesdoes not contain any AFGP proteins compared to the same locus in the Antarctic toothfish (Dissostichus mawsoni). This is in agreement with previously published results looking at hybridization signals and confirms that Patagonian toothfish do not possess AFGP coding sequences in their genome. The high-quality genome assembly of the Patagonian toothfish will provide a valuable genetic resource for ecological and evolutionary studies on this and other closely related species.
Zn2+potentiation of OTOP proton channels identifies structural elements of the gating apparatus
Authors: Teng Bochuan , Kaplan Joshua P. , Liang Ziyu , Goldschen-Ohm Marcel , Liman Emily R. 
Published: December 2022

AbstractOtopetrin proteins (OTOPs) form proton-selective ion channels that are expressed in diverse cell types where they may mediate detection of acids or regulation of pH. In vertebrates there are three family members: OTOP1 is required for formation of otoconia in the vesibular system and it forms the receptor for sour taste, while the functions of OTOP2, and OTOP3 are not yet known. Importantly, the gating mechanisms of any of the OTOP channels are not well-understood, and until recently, it was not even known if the channels were gated. Here we show that Zn2+, as well as other transition metals including copper (Cu2+), potently activate murine OTOP3. Zn2+pre-exposure increases the magnitude of OTOP3 currents to a subsequent acid stimulus by as much as 10-fold. In contrast, OTOP2 currents are insensitive to potentiation by Zn2+. Swapping the extracellular tm 11-12 linker between OTOP3 and OTOP2 was sufficient to eliminate Zn2+potentiation of OTOP3 and confer Zn2+potentiation on OTOP2. We also show that H531 within the tm 11-12 linker is essential for potentiation of OTOP3 by Zn2+, likely by forming part of its binding site. Kinetic modeling of the data is consistent with Zn2+stabilizing the open state of the channel, possibly competing with H+for activation of the channels. These results establish the tm 11-12 linker as part of the gating apparatus of OTOP channels and a target for drug discovery. Zinc is an essential micronutrient and its regulation of OTOP channels will undoubtedly have important physiological sequelae.Significance StatementA family of proton-activated H+ion channels was recently identified that includes the sour receptor OTOP1. Here we show that members of the OTOP channel family are differentially sensitive to Zn2+, which strongly activates OTOP3 but not OTOP2. By studying chimeric channels, we identify structural elements in the extracellular linker between transmembrane domains 11-12 that are necessary and sufficient for Zn2+activation of OTOP channels. In addition to the taste system, OTOP channels play important roles in biomineralization in both vertebrate and invertebrates and are expressed in the digestive tract where their expression is a predictor of cancer prognosis. Our identification of the tm 11-12 linker as part of the gating apparatus makes it a promising target for pharmaceutical discovery.
Mechanical resistance of the environment affects root hair growth and nucleus dynamics
Authors: Pereira David , Alline Thomas , Lin Emilie , Asnacios Atef 
Published: December 2022

AbstractRoot hair (RH) cells are important for the growth and survival of seedlings. They favor plant-microbe interactions, nutrients, and water uptake. RH cells increase drastically the surface of exchange of the root system with the surrounding environment. To be able to invade the soil, RH cells have to penetrate a dense and porous medium exhibiting a variety of physical properties. The soil’s physical properties, such as mechanical resistance, impact the growth and survival of plants. Consequently, studying the effect of soil resistance on the growth of RH is essential to improve our understanding of plant growth. Here we investigate the effect of the mechanical resistance of the culture medium on RH-physical and phenotypical parameters such as length, time, and speed of growth. We also analyze the impact of the environment on the positioning, and movement of the nucleus inside the growing cells. To do so, Arabidopsis Thaliana seedlings were cultured in a custom-made microfluidic-like system, in solid media with agar concentrations ranging from 0.5% to 1.25%. We show that the time of growth of RH cells is independent of the mechanical resistance of the surrounding environment, while the RH speed decreases when the mechanical resistance increases. As a consequence, the RH cells are shorter in stiffer environments. Moreover, we show that the speed of the nucleus adapts to the mechanical resistance of the environment and follows the same trend as the average speed of the RH tip. Eventually, during RH growth, the nucleus-to-tip distance was found to decrease when the stiffness of the environment was increased, indicating mechanotransduction from the cell surface to the nucleus.
The first fossil replete ant worker establishes living food storage in the Eocene
Authors: Sawh Indira , Bae Eunice , Camilo Luciana , Lanan Michele , Lucky Andrea , Morais Menezes Henrique , Fiorentino Gianpiero , Sosiak Christine , Khadempour Lily , Barden Phillip 
Published: December 2022

AbstractWorker specialization extends the behavioral and ecological repertoire of ant colonies. Specialization may relate to colony defense, brood care, foraging, and, in some taxa, storage. Replete workers swell the crop and gaster to store liquid food, which can be accessed by other colony members through trophallaxis. This storage ability, known as repletism, has independently evolved across several ant lineages, but the temporal history of this trait has not yet been investigated. Here, we describe the first fossil replete in the extinct speciesLeptomyrmex neotropicusBaroni Urbani, 1980 preserved in Miocene-age Dominican amber. Together with new evidence of repletism inL. neotropicus’extant sister species,L. relictusBoudinot et al., 2016, we reconstruct the pattern of acquisition and descent in this storage-linked trait. Our ancestral state reconstruction suggests thatLeptomyrmexacquired replete workers in the Eocene and may therefore represent the earliest instance of so-called “honeypot” ants among all known ants, both living and extinct.
Dissecting the Human Leptomeninges at single-cell resolution
Authors: Kearns Nicola , Iatrou Artemis , Flood Danny , De Tissera Sashini , Mullaney Zachary M. , Xu Jishu , Gaiteri Chris , Bennett David A. , Wang Yanling 
Published: December 2022

AbstractEmerging evidence shows that the meninges conduct essential immune surveillance and immune defense at the brain border, and the dysfunction of meningeal immunity contributes to aging and neurodegeneration. However, no study exists on the molecular properties of cell types within human leptomeninges. Here, we provide the first single nuclei profiling of dissected postmortem leptomeninges from aged individuals. We detect diverse cell types, including unique meningeal endothelial, mural, and fibroblast subtypes. For immune cells, we show that most T cells express CD8 and bear characteristics of tissue-resident memory T cells. We also identify distinct subtypes of border-associated macrophages (BAMs) that display differential gene expressions from microglia and express risk genes for Alzheimer’s Disease (AD), as nominated by genome-wide association studies (GWAS). We discover cell-type-specific differentially expressed genes in individuals with Alzheimer’s dementia, particularly in fibroblasts and BAMs. Indeed, when cultured, leptomeningeal cells display the signature ofex vivoAD fibroblasts upon amyloid-β treatment. We further explore ligand-receptor interactions within the leptomeningeal niche and computationally infer intercellular communications in AD. Thus, our study establishes a molecular map of human leptomeningeal cell types, providing significant insight into the border immune and fibrotic responses in AD.
Evaluation of the causal associations between brain imaging-derived phenotypes and type 2 diabetes: a bidirectional Mendelian randomization study
Authors: Dong Shan-Shan , Yu Ke , Tang Shi-Hao , Guo Jing , Guo Yan , Yang Tie-Lin 
Published: December 2022

ABSTRACTOBJECTIVETo investigate whether the association between brain imaging-derived phenotypes (IDPs) and Type 2 diabetes (T2D) related traits is causal.DESIGNTwo sample, bidirectional Mendelian randomization study.SETTINGGenome wide association study (GWAS) summary data taken from various cohorts comprised of the general population (mainly composed of Europeans).PARTICIPANTSSummary data were used from previous GWAS. For IDPs, the data included up to 33,224 European individuals from the UK Biobank. For T2D-related traits, the number of participants ranged from 63,396 to 455,313.MAIN OUTCOME MEASURESA total of 587 reliable IDPs and five T2D-related traits (T2D, fasting glucose, 2h-glucose post-challenge, glycated hemoglobin, and fasting insulin).RESULTSWe identified 3 IDPs with potential causal effects on T2D or fasting insulin. For example, we observed that the area of the right rostral middle frontal cortex was negatively associated with the T2D risk (OR = 0.74, 95% CI 0.65 to 0.85,P= 1.31 × 10−5). In addition, we identified potential causal effects of T2D-related traits on 6 IDPs. For example, T2D was negatively associated with the volumes of the right superior frontal gyrus (β = -0.05, 95% CI -0.08 to -0.03,P= 2.17 × 10−5) and the right paracentral lobule (β = -0.05, 95% CI -0.07 to -0.02,P= 1.74 × 10−4).CONCLUSIONSOur results revealed strong genetic evidence for the bidirectional causal associations between brain neuroimaging phenotypes and T2D-related traits. This will contribute to better prediction and intervention for the risk of T2D.
An International Consensus Definition for Contextual Factors: Findings from a Nominal Group Technique
Authors: Cook Chad E , Bailliard Antoine , Bent Jennifer , Bialosky Joel , Carlino Elisa , Colloca Luana , Esteves Jorge E , Newell Dave , Palese Alvisa , Reed William R. , Vilardaga Jennifer Plumb , Rossettini Giacomo 
Published: December 2022

AbstractEmerging literature suggests contextual factors are important components of therapeutic encounters and may substantially influence clinical outcomes of a treatment intervention. At present, a single consensus definition of contextual factors, which is universal across all health-related conditions is lacking. The objective of this study was to create a consensus definition of contextual factors to better refine this concept for clinicians and researchers. The study used a multi-stage virtual Nominal Group Technique (vNGT) to create and rank contextual factor definitions. Nominal group techniques are a form of consensus-based research, and are beneficial for identifying problems, exploring solutions and establishing priorities. The 10 international vNGT participants had a variety of clinical backgrounds and research specializations and were all specialists in contextual factors research. The initial stages of the vNGT resulted in the creation of 14 independent contextual factor definitions. After a prolonged discussion period, the initial definitions were heavily modified, and 12 final definitions were rank ordered by the vNGT participants from first to last. A sixth round was used to identify a final consensus, which reflected the complexity of contextual factors and included three primary domains: 1) an overall definition; 2) qualifiers that serve as examples of the key areas of the definition; and 3) how contextual factors may influence clinical outcomes. Our consensus definition of contextual factors seeks to improve the understanding and communication between clinicians and researchers. These are especially important in recognizing their potential role in moderating/mediating clinical outcomes.
Haemochromatosis genetic variants and musculoskeletal outcomes: 11.5 year follow-up in the UK Biobank cohort study
Authors: Banfield Lucy R , Knapp Karen M , Pilling Luke C , Melzer David , Atkins Janice L 
Published: December 2022

AbstractBackgroundThe iron overload disorder haemochromatosis is primarily caused by the homozygousHFEp.C282Y variant, but the scale of excess related musculoskeletal morbidity is uncertain.MethodsWe estimated haemochromatosis-genotype associations with clinically diagnosed musculoskeletal outcomes and joint replacement surgeries in the UK Biobank community cohort. 451,143 European ancestry participants (40-70 years at baseline) were followed in hospital records (mean 11.5 years). Cox proportional hazards models estimatedHFEp.C282Y and p.H63D associations with incident outcomes.ResultsMale p.C282Y homozygotes (n=1,294) had increased incidence of osteoarthritis (n=52, HR: 2.12 [95% CI:1.61-2.80]; p=8.8*10-8), hip replacement (n=88, HR:1.84 [95% CI: 1.49-2.27]; p=1.6*10-8), knee replacement (n=61, HR:1.54 [95% CI:1.20-1.98]; p=8.4*10-4), ankle and shoulder replacement, compared to males with noHFEmutations. Cumulative incidence analysis, using Kaplan-Meier lifetable probabilities demonstrated 10.4% of male homozygotes were projected to develop osteoarthritis and 15.5% to have hip replacements by age 75, versus 5.0% and 8.7% respectively without mutations. Male p.C282Y homozygotes also had increased incidence of femoral fractures (n=15, HR:1.72 [95% CI: 1.03-2.87]; p=0.04) and osteoporosis (n=21, HR:1.71 [95% CI: 1.11-2.64, p=0.02), although the latter association was limited to those with liver fibrosis/cirrhosis diagnoses. Female p.C282Y homozygotes had increased incidence of osteoarthritis only (n=57, HR:1.46, [95% CI: 1.12-1.89]; p=0.01). Male p.C282Y/p.H63D compound heterozygotes experienced a modest increased risk of hip replacements (n= 234, HR: 1.17 [95% CI: 1.02–1.33] p=0.02), but this did not pass multiple testing corrections.ConclusionsIn this large community cohort, the p.C282Y homozygote genotype was associated with substantial excess musculoskeletal morbidity in males. WiderHFEgenotype testing may be justified, including in orthopaedic clinics serving higherHFEvariant prevalence populations.Abstract Figure
Effects of Pod-Based Electronic Cigarette Use on Vascular Health and Relation to Volatile Organic Compound Exposure in Young Adults
Authors: Majid Sana , Fetterman Jessica L. , Weisbrod Robert M. , Behrooz Leili , Stokes Andrew , Blaha Michael J. , Conklin Daniel , Srivastava Sanjay , Robertson Rose Marie , Bhatnagar Aruni , Keith Rachel J. , Hamburg Naomi M. 
Published: December 2022

ABSTRACTBackgroundPod-based electronic cigarettes (e-cigarettes) use that contain nicotine salts is frequent among youth and young adults; thus, we compared the vascular health effects of pod-based e-cigarette use to combustible cigarette use.Methods and ResultsWe performed a two center observational, cross-sectional study of healthy adults recruited from the community (aged 18-45, N=106) in 3 groups: pod-based e-cigarette users (N=48); combustible cigarette users (N=21); and tobacco nonusers (N=37) and assessed the acute (following structured use) and chronic (resting state after 6 hour tobacco abstinence) effects of pod-based e-cigarette use on endothelial function (brachial artery flow-mediated dilation), blood pressure, and heart rate. Among the pod-based e-cigarette users, 64% were exclusive users including 37% who had never used combustible cigarettes. Pod-based e-cigarette users and combustible cigarette users had higher systolic blood pressure compared to non-users (121±11mmHg, 121±13mmHg, 112±10 mmHg, P=0.0004). Structured pod-based e-cigarette use acutely decreased flow-mediated dilation (−3.2±2.7%), raised systolic and diastolic blood pressure (6±8mmHg, 4±5mmHg) and heart rate (5±7bpm), similar to combustible cigarette use (−2.6±2.6%, 9±8mmHg, 6±5mmHg, 6±6bpm P=0.83, 0.3, 0.4, 0.56 vs pod-based), and to a greater extent than nonuse (0.3±4.1%, 0.7±5mmHg, 0.3±3mmHg, -3±4bpm, P=1.0x10−7, 0.002, 0.003, 2.6x10−7). Differences remained robust in models adjusted for age, sex, and race. The effect of pod-based cigarette use was similar in adults who had never used combustible cigarettes. Levels of acrolein, acrylamide, acrylonitrile, and crotonaldehyde were associated with the changes in vascular health measures.ConclusionsOverall, our findings suggest that pod-based e-cigarette use has acute and chronic vascular effects in healthy young adults including those who never used combustible cigarettes. Select metabolites derived from volatile organic compounds were associated with the vascular changes suggesting relevance to vascular health.