bluuebunny/crossref_metadata_2025_split huggingface dataset:
Stripes and loss of color in ball pythons (Python regius) are associated with variants affecting endothelin signaling
Authors: Dao Uyen M , Lederer Izabella , Tabor Ray L , Shahid Basmah , Graves Chiron W , Seidel Hannah S ,   BIO306W Consortium, Abdeljalil Bayan , Bailey Garrett , Belman John (Teddy) , Camac Keith , Ellis Aaron , Fatima Amber , Garcia Delaney , Gregory Shannon , Haley Amber , Harrison Chloe , Kosanovich Carly , Melcher Corey , Miracle Lindsey , Pineda Natalia , Redding Catherine , Salsido Audrey , Satler Caitlin , Sealy Jake , Shukla Ananya , Strasser Hannah , Tanna Nehul , Veenhuis Evan , Wasiuddin Syed , Watson Anna , Weaver Madyson , Wells Raymond , Weymouth Kathleen 
Published: June 2023

Abstract
Color patterns in nonavian reptiles are beautifully diverse, but little is known about the genetics and development of these patterns. Here, we investigated color patterning in pet ball pythons (Python regius), which have been bred to show color phenotypes that differ dramatically from the wildtype form. We report that several color phenotypes in pet animals are associated with putative loss-of-function variants in the gene encoding endothelin receptor EDNRB2: (1) frameshift variants in EDNRB2 are associated with conversion of the normal mottled color pattern to skin that is almost fully white, (2) missense variants affecting conserved sites of the EDNRB2 protein are associated with dorsal, longitudinal stripes, and (3) substitutions at EDNRB2 splice donors are associated with subtle changes in patterning compared to wildtype. We propose that these phenotypes are caused by loss of specialized color cells (chromatophores), with loss ranging from severe (fully white) to moderate (dorsal striping) to mild (subtle changes in patterning). Our study is the first to describe variants affecting endothelin signaling in a nonavian reptile and suggests that reductions in endothelin signaling in ball pythons can produce a variety of color phenotypes, depending on the degree of color cell loss.
Safeguarding Sex: The Technopolitics of Humanitarian Genomic Accountability
Authors: Sandvik Kristin Bergtora , Westendorf Jasmine-Kim 
Published: June 2023

AbstractThis paper is about the intersection of technological utopianism with the safeguarding rush in international aid and the DNA imaginations that it has given rise to. It explores the implications of the centering of DNA technology in efforts to prevent and punish sexual exploitation and abuse by aid workers and asks what types of accountability DNA approaches yield. The article examines the discursive power of DNA imaginaries in shaping the politics and practice of safeguarding in the humanitarian sector. We consider the type of solutionism at play in the technological imaginary of consumer genomics as an appropriate mode of “catching” sexual predators among aid workers, as well as to the political interests in getting safeguarding “implemented” as rapidly (and simply) as possible. We argue that there are significant implications emerging from how the “turn to DNA” ties genetic and racialized biosurveillance to humanitarian accountability. This concerns how the humanitarian system thinks about consent and coercion and about children’s rights and bodily integrity. Moreover, we argue that drawing from the current moral crisis of safeguarding in aid, the project itself exemplifies how a discursive (white) genetic nationalism was able to shore up considerable political support and financial resources from Australian and UK political actors with little critical attention.
Susceptibility profile and β-lactamase content of global Pseudomonas aeruginosa isolates resistant to ceftolozane/tazobactam and/or imipenem/relebactam—SMART 2016–21
Authors: Karlowsky James A , Lob Sibylle H , Estabrook Mark A , Siddiqui Fakhar , DeRyke C Andrew , Young Katherine , Motyl Mary R , Sahm Daniel F 
Published: June 2023

Abstract

Objectives
To determine susceptibility profiles and β-lactamase content for ceftolozane/tazobactam-resistant and imipenem/relebactam-resistant Pseudomonas aeruginosa isolates collected in eight global regions during 2016–21.

Methods
Broth microdilution MICs were interpreted using CLSI breakpoints. PCR to identify β-lactamase genes or WGS was performed on selected isolate subsets.

Results
Ceftolozane/tazobactam-resistant [from 0.6% (Australia/New Zealand) to 16.7% (Eastern Europe)] and imipenem/relebactam-resistant [from 1.3% (Australia/New Zealand) to 13.6% (Latin America)] P. aeruginosa varied by geographical region. Globally, 5.9% of isolates were both ceftolozane/tazobactam resistant and imipenem/relebactam resistant; 76% of these isolates carried MBLs. Most ceftolozane/tazobactam-resistant/imipenem/relebactam-susceptible isolates carried ESBLs (44%) or did not carry non-intrinsic (acquired) β-lactamases (49%); 95% of imipenem/relebactam-resistant/ceftolozane/tazobactam-susceptible isolates did not carry non-intrinsic β-lactamases. Isolates that carried indicators of strong PDC (Pseudomonas-derived cephalosporinase) up-regulation without a mutation known to expand the spectrum of PDC, or non-intrinsic β-lactamases, showed an 8-fold increase in ceftolozane/tazobactam modal MIC; however, this rarely (3%) resulted in ceftolozane/tazobactam resistance. Isolates with a PDC mutation and an indicator for PDC upregulation were ceftolozane/tazobactam non-susceptible (MIC,  ≥ 8 mg/L). MICs ranged widely (1 to &gt;32 mg/L) for isolates with a PDC mutation and no positively identified indicator for PDC up-regulation. Imipenem/relebactam-resistant/ceftolozane/tazobactam-susceptible isolates without non-intrinsic β-lactamases frequently (91%) harboured genetic lesions implying OprD loss of function; however, this finding alone did not account for this phenotype. Among imipenem-non-susceptible isolates without non-intrinsic β-lactamases, implied OprD loss only shifted the distribution of imipenem/relebactam MICs up by 1–2 doubling dilutions, resulting in ∼10% imipenem/relebactam-resistant isolates.

Conclusions
P. aeruginosa with ceftolozane/tazobactam-resistant/imipenem/relebactam-susceptible and imipenem/relebactam-resistant/ceftolozane/tazobactam-susceptible phenotypes were uncommon and harboured diverse resistance determinants.
AACC/NKF Guidance Document on Improving Equity in Chronic Kidney Disease Care
Authors: Pierre Christina C , Marzinke Mark A , Ahmed Sofia B , Collister David , Colón-Franco Jessica M , Hoenig Melanie P , Lorey Thomas , Palevsky Paul M , Palmer Octavia Peck , Rosas Sylvia E , Vassalotti Joseph , Whitley Cameron T , Greene Dina N 
Published: June 2023

Abstract

Background
Kidney disease (KD) is an important health equity issue with Black, Hispanic, and socioeconomically disadvantaged individuals experiencing a disproportionate disease burden. Prior to 2021, the commonly used estimated glomerular filtration rate (eGFR) equations incorporated coefficients for Black race that conferred higher GFR estimates for Black individuals compared to non-Black individuals of the same sex, age, and blood creatinine concentration. With a recognition that race does not delineate distinct biological categories, a joint task force of the National Kidney Foundation and the American Society of Nephrology recommended the adoption of the CKD-EPI 2021 race-agnostic equations.

Content
This document provides guidance on implementation of the CKD-EPI 2021 equations. It describes recommendations for KD biomarker testing, and opportunities for collaboration between clinical laboratories and providers to improve KD detection in high-risk populations. Further, the document provides guidance on the use of cystatin C, and eGFR reporting and interpretation in gender-diverse populations.

Summary
Implementation of the CKD-EPI 2021 eGFR equations represents progress toward health equity in the management of KD. Ongoing efforts by multidisciplinary teams, including clinical laboratorians, should focus on improved disease detection in clinically and socially high-risk populations. Routine use of cystatin C is recommended to improve the accuracy of eGFR, particularly in patients whose blood creatinine concentrations are confounded by processes other than glomerular filtration. When managing gender-diverse individuals, eGFR should be calculated and reported with both male and female coefficients. Gender-diverse individuals can benefit from a more holistic management approach, particularly at important clinical decision points.
Epibulbar osseous choristoma: a case report
Authors: Alhasseny Khitam Fakhir , Abdulsahib Ali Mohammed 
Published: June 2023

Abstract
Peribulbar osseous choristoma is a benign, solid nodule; it is a subtype of epibulbar choristomas (belongs to single tissue choristomas), consisting of pure bony tissues. Epibulbar osseous choristoma is the rarest subtype of epibulbar choristomas, with only 65 cases reported since the mid-19th century; so, the rarity of the disease drove me to report it. A 7-year-old female presented with a painless left ocular superotemporal mass, which was present since birth and located under the conjunctiva. The primary diagnoses included lipodermoid and subconjunctival foreign bodies. Ocular interventions included a B-scan, examination under anesthesia and surgical excision of the mass in toto, and the histopathological examination showed that it was an osseous choristoma.
SUPREME: multiomics data integration using graph convolutional networks
Authors: Kesimoglu Ziynet Nesibe , Bozdag Serdar 
Published: June 2023

Abstract
To pave the road towards precision medicine in cancer, patients with similar biology ought to be grouped into same cancer subtypes. Utilizing high-dimensional multiomics datasets, integrative approaches have been developed to uncover cancer subtypes. Recently, Graph Neural Networks have been discovered to learn node embeddings utilizing node features and associations on graph-structured data. Some integrative prediction tools have been developed leveraging these advances on multiple networks with some limitations. Addressing these limitations, we developed SUPREME, a node classification framework, which integrates multiple data modalities on graph-structured data. On breast cancer subtyping, unlike existing tools, SUPREME generates patient embeddings from multiple similarity networks utilizing multiomics features and integrates them with raw features to capture complementary signals. On breast cancer subtype prediction tasks from three datasets, SUPREME outperformed other tools. SUPREME-inferred subtypes had significant survival differences, mostly having more significance than ground truth, and outperformed nine other approaches. These results suggest that with proper multiomics data utilization, SUPREME could demystify undiscovered characteristics in cancer subtypes that cause significant survival differences and could improve ground truth label, which depends mainly on one datatype. In addition, to show model-agnostic property of SUPREME, we applied it to two additional datasets and had a clear outperformance.
Placing of the recently observed bottom strange states BsJ(6063) and BsJ(6114) in bottom spectra
Authors: Garg Ritu , Gupta Pallavi , Upadhyay Alka 
Published: June 2023

Abstract
We employ the heavy quark effective theory (HQET) to give spin-parity quantum numbers for the bottom strange states BsJ(6063) and BsJ(6114) recently observed by the LHCb Collaboration [9]. By exploring flavor-independent parameters $\Delta _{F}^{(c)} =\Delta _{F}^{(b)}$ and $\lambda _{F}^{(c)} = \lambda _{F}^{(b)}$ appearing in the HQET Lagrangian, we calculate the masses of the experimentally missing bottom strange meson states 2S, 1P, 1D. The parameter ΔF appears in the HQET Lagrangian and gives the spin-averaged mass splitting between excited-state doublets (F) and ground-state doublets (H). Another parameter λF comes from first-order corrections in the HQET Lagrangian and gives hyperfine splittings. We also analyze these bottom strange masses by taking 1/mQ corrections, which lead to modifications of parameter terms of $\Delta _{F}^{(b)} =\Delta _{F}^{(c)} + \delta \Delta _F$ and $\lambda _{F}^{(b)} = \lambda _{F}^{(c)}\delta \lambda _F$. Further, we analyze their two-body decays, couplings, and branching ratios via the emission of light pseudoscalar mesons. Based on the predicted masses and decay widths, we tentatively identify the states BsJ(6063) as 23S1 and BsJ(6114) as 13D1. Our predictions provide crucial information for future experimental studies.
Examining the impact of a multimedia intervention on decisional conflict and psychological distress among early-stage breast cancer patients: results from a nationwide RCT
Authors: Marziliano Allison , Miller Suzanne M , Fleisher Linda G , Ropka Mary E , Stanton Annette L , Wen Kuang-Yi , Cornelius Talea , Lapitan Emmanuel , Diefenbach Michael A 
Published: June 2023

Abstract
We conducted a nationwide, randomized controlled trial to evaluate the impact of Healing Choices, a novel interactive education and treatment decision program rooted in the self-regulation theory framework, on decisional conflict and psychological distress at 2-month post-intervention in women with early-stage breast cancer. Patients were randomized to receive the National Cancer Institute’s standard print material (control) or standard print material plus Healing Choices (the intervention). The final sample at 2-month post-intervention consisted of N = 388 participants (intervention: n = 197; control: n = 191). There were no significant differences in decisional conflict or its subscales; however, psychological distress was higher in the intervention group (16.09 ± 10.25) than in the control group (14.37 ± 8.73) at follow-up, B = 1.88, 95% CI [−0.03, 3.80], t(383) = 1.94, p = .05. Upon further examination, we found that engagement with the intervention was low—41%—prompting as-treated analyses, which showed no difference in distress between users and nonusers and a positive impact of Healing Choices on decisional conflict: decisional support subscale: users (35.36 ± 15.50) versus nonusers (39.67 ± 15.99), B = −4.31 (s.e. = 2.09), p = .04. Multiple recommendations for moving ahead stem from this work: (i) intent-to-treat analyses appeared to cause distress, cautioning against interventions that may lead to information overload; (ii) engagement with the intervention is low and future work needs to focus on increasing engagement and monitoring it throughout the study; and (iii) in studies with low engagement, as-treated analyses are critical.
Arterial Resection for Pancreatic Cancer: Feasibility and Current Standing in a High-Volume Center
Authors: Ren Lei , Jäger Carsten , Schorn Stephan , Pergolini Ilaria , Göß Rüdiger , Safak Okan , Kießler Maximilian , Martignoni Marc E. , Novotny Alexander R. , Friess Helmut , Ceyhan Güralp O. , Demir Ihsan Ekin 
Published: June 2023

Background:
Arterial resection (AR) during pancreatectomy for curative R0 resection of pancreatic ductal adenocarcinoma (PDAC) remains a controversial procedure with high morbidity.

Objective:
To investigate the feasibility and oncological outcomes of pancreatectomy combined with AR at a high-volume center for pancreatic surgery.

Methods:
We retrospectively analyzed our experience in PDAC patients, who underwent pancreatic resection with AR and/or venous resection (VR) between 2007 and 2021.

Results:
In total 259 PDAC patients with borderline resectable (n = 138) or locally advanced (n = 121) PDAC underwent vascular resection during tumor resection. From these, 23 patients had AR (n = 4 due to intraoperative injury, n = 19 due to suspected arterial infiltration). However, 12 out of 23 patients (52.2%) underwent simultaneous VR including 1 case with intraoperative arterial injury. In comparison, 11 patients (47.8%) underwent AR only including 3 intraoperative arterial injury patients. Although the operation time and bleeding rate of patients with AR were respectively longer and higher than in VR, no significant difference was detected in postoperative complications between VR and AR (P = 0.11). The final histopathological findings of PDAC patients were similar, including M stage, regional lymph node metastases, and R0 margin resection. The mortality of the entire cohort was 6.2% (16/259), with a tendency to increase mortality in the AR cohort, yet without statistical significance (VR: 5% vs AR: 21.1%; P = 0.05). Although 19 (82.6%) patients had PDAC in the final histopathology, only 6 were confirmed to have infiltrated arteria. The microscopic distribution of PDAC in these infiltrated arterial walls on hematoxylin-eosin staining was classified into 3 patterns. Strikingly, the perivascular nerves frequently exhibited perineural invasion.

Conclusions:
AR can be performed in high-volume centers for pancreatic surgery with an acceptable morbidity, which is comparable to that of VR. However, the likelihood of arterial infiltration seems to be rather overestimated, and as such, AR might be avoidable or replaced by less invasive techniques such as divestment during PDAC surgery.
Hyperpigmented Mycosis Fungoides Masquerading as Longstanding Lichen Planus Pigmentosus: A Diagnostic Pitfall
Authors: Böer-Auer Almut , Jones Christian , Jepson Jordan , Asgari Masoud 
Published: June 2023

Background:Mycosis fungoides (MF) is a rare primary cutaneous T-cell lymphoma, accounting for 50%–60% of all cutaneous T-cell lymphoma cases. It has a prevalence of approximately 5–6 cases per 1 million people annually and a higher incidence in dark-skinned populations.Case presentation:We report a case of hyperpigmented MF in a 72-year-old dark-skinned man with a 5-year history of progressive, widespread poikilodermatous patches and thin plaques on the back and bilateral legs. The patient had been treated for lichen planus pigmentosus for 5 years without significant response to therapy.Assessment:Multiple biopsies revealed a band-like lymphoid infiltrate in the dermis, accompanied by intraepidermal lymphocytes, some of which had larger hyperchromatic nuclei. CD4+T lymphocytes were predominant over CD8+T-positive cells located along the epidermis, dermoepidermal junction, and in the dermis.Diagnosis:A diagnosis of hyperpigmented MF was made based on the clinical, histopathological, and immunohistochemical findings.Conclusion:This case report highlights the importance of considering hyperpigmented MF as a differential diagnosis in patients with longstanding lichen planus pigmentosus, particularly when there is a lack of response to therapy.
A Case of Circumscribed Palmar or Plantar Hypokeratosis and a Mini-review of the Literature
Authors: Atak Tugba , Gonul Muzeyyen , Magsudova Leyla , Gökce Aysun , Kartal Selda Pelin 
Published: June 2023

Abstract:
Circumscribed palmar or plantar hypokeratosis (CPPH) is a new dermatologic disorder that firstly defined Pérez A et al in 2002. Since that time, further cases of CPPH have been reported by different authors in different countries. We report a 69-year-old Turkish woman who presented with asymptomatic, erythematous patches on the thenar region of the left hand and on the second left finger. Skin biopsy showed histological features of CPPH. In this article, it was emphasized that CPPH may be seen more frequently than expected and the clinical and pathological features of this disease with suspected malignant transformation should be known.
Creating a Surgical Biobank: The Hershey Medical Center Experience
Authors: Mankarious Marc M. , Connelly Tara M. , Harris Leonard , Deiling Sue , Yochum Gregory S. , Koltun Walter A. 
Published: June 2023

BACKGROUND:
Tissue harvesting at the time of surgery offers surgeons and scientists a unique opportunity to discover and better understand disease pathophysiology. Tissue biobanking presents challenges in patient consents, specimen collection, preparation, and storage, but the potential for scientific discovery justifies the effort. Although the number of tissue biobanks is increasing worldwide, information regarding necessary infrastructure, process flow, and management of expected obstacles is lacking.

OBJECTIVE:
To provide a framework and motivation for clinician scientists intending to start an intestinal tissue biobank under their direction.

DATA SOURCES:
The Carlino Family Inflammatory Bowel and Colorectal Diseases Biobank is housed at the Milton S. Hershey Medical Center.

STUDY SELECTION:
Review.

INTERVENTION:
Implementation of a surgical tissue biobank at a large tertiary care institution.

MAIN OUTCOME MEASURES:
Assess critical challenges and obstacles over the years as well as keys to the success of the program.

RESULTS:
Over 2 decades, the institutional biobank grew from an IBD biobank to one which now incorporates thousands of surgical specimens representing numerous colorectal diseases. This was done through a process of refinement focusing on patient recruitment and an efficient consenting and specimen management process. The biobank’s success is further insured by institutional, external, and philanthropic support; scientific collaborations; and sharing of biological specimens with other groups of dedicated researchers.

LIMITATIONS:
This is a single-center experience in collecting surgically resected colorectal specimens.

CONCLUSIONS:
Surgical specimen biobanks are essential in studying disease cause using genomics, transcriptomics, and proteomic technologies. Therefore, surgeons, clinicians, and scientists should build biobanks at their institutions to promote further scientific discovery and improve specimen diversity.
Intrastromal corneal ring segments: effect of depth of implantation in visual, refractive, and topographic outcomes in patients with keratoconus
Authors: Neves Cruz Carlos , Franqueira Nuno , Mendes José Carlos , Oliveira Mariana , Monteiro Tiago 
Published: June 2023

Purpose:
To evaluate visual, refractive, and topographic outcomes of intracorneal ring segment implantation in relation to the achieved segment depth, using the manual technique.

Setting:
Ophthalmology Department, Hospital de Braga, Braga, Portugal.

Design:
Retrospective cohort study.

Methods:
We obtained 104 eyes of 93 patients with keratoconus submitted to Ferrara intracorneal ring segment (ICRS) implantation, using a manual technique. Subjects were divided into 3 groups according to the achieved depth of implantation: 40% to 70% (Group 1), 70% to 80% (Group 2), and 80% to 100% (Group 3). Visual, refractive, and topographic variables were evaluated at baseline and 6 months. Topographic measurement was performed using Pentacam. Thibos-Horner and Alpins methods were used to analyze the vectorial change of refractive and topographic astigmatism, respectively.

Results:
We found a significant improvement of uncorrected distance visual acuity and corrected distance visual acuity in all groups at 6 months (P < .005); no differences were observed regarding safety and efficacy indexes in the 3 groups (P > .05). Manifest cylinder and spherical equivalent significantly reduced in all groups (P < .05). Topographic evaluation showed a significant improvement of all parameters in the 3 groups (P < .05). A shallower (Group 1) or deeper (Group 3) implantation was associated with topographic cylinder overcorrection, a higher magnitude of error, and a higher mean centroid postoperative corneal astigmatism.

Conclusions:
ICRS implantation with the manual technique showed to be equally effective in visual and refractive outcomes despite the depth of implantation; however, shallower or deeper implants were associated with topographic overcorrection and a higher mean centroid postoperative astigmatism, which explain the lower topographic predictability associated with manual surgery for ICRS implantation.