Role of apolipoprotein B in the clinical management of cardiovascular risk in adults: An expert clinical consensus from the national lipid association.

This National Lipid Association (NLA) Expert Clinical Consensus provides an overview of the physiologic and clinical considerations regarding the role of apolipoprotein B (apoB) measurement to guide clinical care based on the available scientific evidence and expert opinion. ApoB represents the total concentration of atherogenic lipoprotein particles in the circulation and more accurately reflects the atherogenic burden of lipoproteins when compared to low-density lipoprotein cholesterol (LDL-C). ApoB is a validated clinical measurement that augments the information found in a standard lipoprotein lipid panel; therefore, there is clinical value in using apoB in conjunction with a standard lipoprotein lipid profile when assessing risk and managing lipid-lowering therapy (LLT). ApoB has been shown to be superior to LDL-C in risk assessment both before and during treatment with LLT. In individuals, there can be discordance between levels of LDL-C and apoB, as well as LDL-C and non-high-density lipoprotein cholesterol (non-HDL-C), despite high levels of population-wide correlation. When there is discordance between LDL-C and apoB, or LDL-C and non-HDL-C, atherosclerotic cardiovascular disease risk generally aligns better with apoB or non-HDL-C. Additionally, apoB can be used in tandem with standard lipoprotein lipid measurements to diagnose distinct lipoprotein phenotypes. ApoB testing can inform clinical prognosis and care, as well as enable family cascade screening, when an inherited lipoprotein syndrome is identified. The NLA and other organizations will continue to educate clinicians about the role of apoB measurement in improving clinical risk assessment and dyslipidemia management. An urgent need exists to improve access and reimbursement for apoB testing.

The limits of the metapopulation: Lineage fragmentation in a widespread terrestrial salamander (Plethodon cinereus).

In vicariant species formation, divergence results primarily from periods of allopatry and restricted gene flow. Widespread species harboring differentiated, geographically distinct sublineages offer a window into what may be a common mode of species formation, whereby a species originates, spreads across the landscape, then fragments into multiple units. However, incipient lineages usually lack reproductive barriers that prevent their fusion upon secondary contact, blurring the boundaries between a single, large metapopulation-level lineage and multiple independent species. Here we explore this model of species formation in the Eastern Red-backed Salamander (Plethodon cinereus), a widespread terrestrial vertebrate with at least six divergent mitochondrial clades throughout its range. Using anchored hybrid enrichment data, we applied phylogenomic and population genomic approaches to investigate patterns of divergence, gene flow, and secondary contact. Genomic data broadly match most mitochondrial groups but reveal mitochondrial introgression and extensive admixture at several contact zones. While species delimitation analyses in BPP supported five lineages of P. cinereus, genealogical divergence indices (gdi) were highly sensitive to the inclusion of admixed samples and the geographic representation of candidate species, with increasing support for multiple species when removing admixed samples or limiting sampling to a single locality per group. An analysis of morphometric data revealed differences in body size and limb proportions among groups, with a reduction of forelimb length among warmer and drier localities consistent with increased fossoriality. We conclude that P. cinereus is a single species, but one with highly structured component lineages of various degrees of independence.

Peering through the hedge: Multiple datasets yield insights into the phylogenetic relationships and incongruences in the tribe Lilieae (Liliaceae).

The increasing use of genome-scale data has significantly facilitated phylogenetic analyses, contributing to the dissection of the underlying evolutionary mechanisms that shape phylogenetic incongruences, such as incomplete lineage sorting (ILS) and hybridization. Lilieae, a prominent member of the Liliaceae family, comprises four genera and approximately 260 species, representing 43% of all species within Liliaceae. They possess high ornamental, medicinal and edible values. Yet, no study has explored the validity of various genome-scale data in phylogenetic analyses within this tribe, nor have potential evolutionary mechanisms underlying its phylogenetic incongruences been investigated. Here, transcriptome, Angiosperms353, plastid and mitochondrial data, were collected from 50 to 93 samples of Lilieae, covering all four recognized genera. Multiple datasets were created and used for phylogenetic analyses based on concatenated and coalescent-based methods. Evolutionary rates of different datasets were calculated, and divergence times were estimated. Various approaches, including coalescence simulation, Quartet Sampling (QS), calculation of concordance factors (gCF and sCF), as well as MSCquartets and reticulate network inference, were carried out to infer the phylogenetic discordances and analyze their underlying mechanisms using a reduced 33-taxon dataset. Despite extensive phylogenetic discordances among gene trees, robust phylogenies were inferred from nuclear and plastid data compared to mitochondrial data, with lower synonymous substitution detected in mitochondrial genes than in nuclear and plastid genes. Significant ILS was detected across the phylogeny of Lilieae, with clear evidence of reticulate evolution identified. Divergence time estimation indicated that most of lineages in Lilieae diverged during a narrow time frame (ranging from 5.0 Ma to 10.0 Ma), consistent with the notion of rapid radiation evolution. Our results suggest that integrating transcriptomic and plastid data can serve as cost-effective and efficient tools for phylogenetic inference and evolutionary analysis within Lilieae, and Angiosperms353 data is also a favorable choice. Mitochondrial data are more suitable for phylogenetic analyses at higher taxonomic levels due to their stronger conservation and lower synonymous substitution rates. Significant phylogenetic incongruences detected in Lilieae were caused by both incomplete lineage sorting (ILS) and reticulate evolution, with hybridization and "ghost introgression" likely prevalent in the evolution of Lilieae species. Our findings provide new insights into the phylogeny of Lilieae, enhancing our understanding of the evolution of species in this tribe.

Unveiling the complexity of rifampicin drug susceptibility testing in Mycobacterium tuberculosis: comparative analysis with next-generation sequencing.

Introduction. The discordance between phenotypic and molecular methods of rifampicin (RIF) drug susceptibility testing (DST) in Mycobacterium tuberculosis poses a significant challenge, potentially resulting in misdiagnosis and inappropriate treatment.Hypothesis/gap statement. A comparison of RIF phenotypic and molecular methods for DST, including whole genome sequencing (WGS), may provide a better understanding of resistance mechanisms.Aim. This study aims to compare RIF DST in M. tuberculosis using two phenotypic and molecular methods including the GeneXpert RIF Assay (GX) and WGS for better understanding.Methodology. The study evaluated two phenotypic liquid medium methods [Lowenstein-Jensen (LJ) and Mycobacterium Growth Indicator Tube (MGIT)], one targeted molecular method (GX), and one WGS method. Moreover, mutational frequency in ponA1 and ponA2 was also screened in the current and previous RIF resistance M. tuberculosis genomic isolates to find their compensatory role.Results. A total of 25 RIF-resistant isolates, including nine from treatment failures and relapse cases with both discordant and concordant DST results on LJ, MGIT and GX, were subjected to WGS. The phenotypic DST results indicated that 11 isolates (44%) were susceptible on LJ and MGIT but resistant on GX. These isolates exhibited multiple mutations in rpoB, including Thr444>Ala, Leu430>Pro, Leu430>Arg, Asp435>Gly, His445>Asn and Asn438>Lys. Conversely, four isolates that were susceptible on GX and MGIT but resistant on LJ were wild type for rpoB in WGS. However, these isolates possessed several novel mutations in the PonA1 gene, including a 10 nt insertion and two nonsynonymous mutations (Ala394>Ser, Pro631>Ser), as well as one nonsynonymous mutation (Pro780>Arg) in PonA2. The discordance rate of RIF DST is higher on MGIT than on LJ and GX when compared to WGS. These discordances in the Delhi/CAS lineages were primarily associated with failure and relapse cases.Conclusion. The WGS of RIF resistance is relatively expensive, but it may be considered for isolates with discordant DST results on MGIT, LJ and GX to ensure accurate diagnosis and appropriate treatment options.

Receptor Discordance in Metastatic Breast Cancer; a review of clinical and genetic subtype alterations from primary to metastatic disease.

PURPOSE: Receptor and subtype discordance between primary breast tumours and metastases is a frequently reported phenomenon. The aim of this article is to review the current evidence on receptor discordance in metastatic breast cancer and to explore the benefit of performing a repeat biopsy in this context. METHODS: Searches were undertaken on PubMed and Clinicaltrials.gov for relevant publications and trials. CONCLUSION: The current guidelines recommend offering to perform a biopsy of a metastatic lesion to evaluate receptor status. The choice of systemic therapy in metastatic disease is often based on the receptor status of the primary lesion. As therapeutic decision making is guided by subtype, biopsy of the metastatic lesion to determine receptor status may alter treatment. This article discusses discordance rates, the mechanisms of receptor discordance, the effect of discordance on treatment and survival outcomes, as well as highlighting some ongoing clinical trials in patients with metastatic breast cancer.

Patients' and Providers' Perspectives of the Transition of Care from Hospital to Community for Hispanic/Latino Adults with Diabetes.

INTRODUCTION: Transition of care is a critical point of care for Hispanic/Latino patients with diabetes, who face higher rates of diabetes-related complications and hospital readmission and challenges during the transition of care from hospital to the community. METHODS: Using semi-structured interviews, with questions tailored to each group, we explored patients' and providers' perspectives of their experiences and challenges during the transition of care of Hispanic/Latino adult patients with diabetes from the hospital to the community. RESULTS: Overlapping themes emerged from both patient and provider interviews identifying common barriers regarding the transition of care, including discordance due to language/communication barriers, perceived burden/nuisance, lack/unawareness of available resources, and lack of patient education. CONCLUSIONS: Findings in this study provide a frame of reference that can be used to address challenges facing Hispanic/Latino patients with diabetes. The uniqueness of this study is its exploration of the perspectives of patients and healthcare providers and the overlapping themes that emerged. Additionally, timely outpatient follow-up care, education, and reducing communication discordance can help with lowering readmission rates for patients with diabetes, especially those who are medically disadvantaged and have language barriers.

Phylogenomics and pervasive genome-wide phylogenetic discordance among fin whales (Balaenoptera physalus).

Phylogenomics has the power to uncover complex phylogenetic scenarios across the genome. In most cases, no single topology is reflected across the entire genome as the phylogenetic signal differs among genomic regions due to processes, such as introgression and incomplete lineage sorting. Baleen whales are among the largest vertebrates on Earth with a high dispersal potential in a relatively unrestricted habitat, the oceans. The fin whale (Balaenoptera physalus) is one of the most enigmatic baleen whale species, currently divided into four subspecies. It has been a matter of debate whether phylogeographic patterns explain taxonomic variation in fin whales. Here we present a chromosome-level whole genome analysis of the phylogenetic relationships among fin whales from multiple ocean basins. First, we estimated concatenated and consensus phylogenies for both the mitochondrial and nuclear genomes. The consensus phylogenies based upon the autosomal genome uncovered monophyletic clades associated with each ocean basin, aligning with the current understanding of subspecies division. Nevertheless, discordances were detected in the phylogenies based on the Y chromosome, mitochondrial genome, autosomal genome and X chromosome. Furthermore, we detected signs of introgression and pervasive phylogenetic discordance across the autosomal genome. This complex phylogenetic scenario could be explained by a puzzle of introgressive events, not yet documented in fin whales. Similarly, incomplete lineage sorting and low phylogenetic signal could lead to such phylogenetic discordances. Our study reinforces the pitfalls of relying on concatenated or single locus phylogenies to determine taxonomic relationships below the species level by illustrating the underlying nuances which some phylogenetic approaches may fail to capture. We emphasize the significance of accurate taxonomic delineation in fin whales by exploring crucial information revealed through genome-wide assessments.

A consequential one-night stand: Episodic historical hybridization leads to mitochondrial takeover in sympatric desert ant-eating spiders.

Disentangling the genomic intricacies underlying speciation and the causes of discordance between sources of evidence can offer remarkable insights into evolutionary dynamics. The ant-eating spider Zodarion nitidum, found across the Middle East and Egypt, displays yellowish and blackish morphs that co-occur sympatrically. These morphs additionally differ in behavioral and physiological features and show complete pre-mating reproductive isolation. In contrast, they possess similar sexual features and lack distinct differences in their mitochondrial DNA. We analyzed both Z. nitidum morphs and outgroups using genome-wide and additional mitochondrial DNA data. The genomic evidence indicated that Yellow and Black are reciprocally independent lineages without signs of recent admixture. Interestingly, the sister group of Yellow is not Black but Z. luctuosum, a morphologically distinct species. Genomic gene flow analyses pinpointed an asymmetric nuclear introgression event, with Yellow contributing nearly 5 % of its genome to Black roughly 320,000 years ago, intriguingly aligning with the independently estimated origin of the mitochondrial DNA of Black. We conclude that the blackish and yellowish morphs of Z. nitidum are long-diverged distinct species, and that the ancient and modest genomic introgression event registered resulted in a complete mitochondrial takeover of Black by Yellow. This investigation underscores the profound long-term effects that even modest hybridization events can have on the genome of organisms. It also exemplifies the utility of phylogenetic networks for estimating historical events and how integrating independent lines of evidence can increase the reliability of such estimations.

Role of ultrasound-guided vacuum-assisted breast biopsy in the management of radiologic-pathologic discordance: a retrospective single-centre study.

PURPOSE: To evaluate the efficacy of US-guided vacuum-assisted biopsy (US-VAB) in radiologic-pathologic (rad-path) discordance in women with suspicious breast lesions. METHODS: Two thousand three hundred and sixty patients with 2385 BI-RADS category 4 and 5 lesions underwent percutaneous US-guided CNB. Thirty-six lesions were classified as discordant benign and underwent second-line US-VAB. A 14-gauge needle was utilized for CNB and 10-gauge for US-VAB. Final pathology was the reference standard for women who underwent surgery, imaging follow-up in other cases. Rates of malignancy for US-VAB and subsequent surgery were evaluated. Lesions with upgrade and no upgrade to second-line VAB were compared in terms of patient's age, lesion type and characteristics, size and BI-RADS category. Positive predictive value (PPV), negative predictive value (NPV) for BI-RADS categories and diagnostic performance for second-line US-VAB were calculated. p value < 0.05 was considered statistically significant (t-test, Mann-Whitney, χ2). RESULTS: US-VAB identified 10 B2, 9 B3 and 17 B5 lesions with upgrade to malignancy of 47.2% (17/36). There were 8 invasive no special type, 7 ductal in situ, 1 invasive lobular carcinoma and 1 angiosarcoma, and their distribution among BI-RADS categories was: 2/2 in BI-RADS 5 (100%), 12/18 in BI-RADS 4C (67%) and 3/16 in BI-RADS 4B lesions (19%) (p = 0.006). Of the remaining 19 lesions, 6 underwent surgery and 2 were upgraded to ductal carcinoma in situ; 13 underwent radiological follow-up and one resulted malignant. False-negative rate for US-VAB was 15.8% (3/19) with final upgrade to malignancy of 55% (20/36). The univariate analysis revealed mass shape (p = 0.008) and BI-RADS categories (p = 0.006) to be associated with upgrade to malignancy. Sensitivity, specificity, PPV, NPV and accuracy for US-VAB were 85, 100, 100, 84 and 92%, respectively. CONCLUSIONS: US-VAB identified almost 50% of cancers missed by CNB, avoiding surgical biopsies and validating as an effective mini-invasive approach in rad-path discordance.

Comparative Analysis of the Diagnostic Value of S-Detect Technology in Different Planes Versus the BI-RADS Classification for Breast Lesions.

RATIONALE AND OBJECTIVES: S-Detect, a deep learning-based Computer-Aided Detection system, is recognized as an important tool for diagnosing breast lesions using ultrasound imaging. However, it may exhibit inconsistent findings across multiple imaging planes. This study aims to evaluate the diagnostic performance of S-Detect in different planes and identify factors contributing to these inconsistencies. MATERIALS AND METHODS: A retrospective cohort study was conducted on 711 patients with 756 breast lesions between January 2019 and January 2022. S-Detect was utilized to assess lesions in radial and anti-radial planes. BI-RADS classifications were employed for comparative analysis. The diagnostic performance was compared within each group, and p-values were computed for intergroup comparisons. Univariable and multivariable analyses were conducted to identify factors contributing to diagnostic inconsistency in S-Detect across planes. RESULTS: Among 756 breast lesions, 668 (88.4%) exhibited consistent S-Detect outcomes across planes while 88 (11.6%) were inconsistent. In the consistent group, the diagnostic accuracy and area under the curve (AUC) of S-Detect were significantly higher than those of BI-RADS (accuracy: 91.2% vs. 84.9%, p = 0.045; AUC: 0.916 vs. 0.859, p = 0.036). In the inconsistent group, the diagnostic accuracy and AUC of S-Detect in radial and anti-radial planes were lower than those of BI-RADS (accuracy: 47.7% for radial, 52.2% for anti-radial vs. 69.3% for BI-RADS, p = 0.014, p-anti = 0.039; AUC: 0.503 for radial, 0.497 for anti-radial vs. 0.739 for BI-RADS, p = 0.042, p-anti <0.001). Diagnostic inconsistency in S-Detect across planes was significantly associated with lesion size, indistinct or angular margins, and enhancement posterior acoustic features (p < 0.05). CONCLUSION: S-Detect has outperformed BI-RADS in diagnostic precision under conditions of inter-planar concordance. However, its diagnostic efficacy is compromised in scenarios of inter-planar discordance. Under these circumstances, the results of S-Detect should be carefully referenced.

Discordant ALK Status in Non-Small Cell Lung Carcinoma: A Detailed Reevaluation Comparing IHC, FISH, and NGS Analyses.

ALK detection was performed on 2813 EGFR-unmutated NSCLC cases by simultaneous use of immunohistochemistry (VENTANA® anti-ALK D5F3, Roche Molecular Systems, Inc., Rotkreuz, Switzerland) and fluorescence in situ hybridization with the ALK break apart and the ALK/EML4 fusion probe (ZytoVision, Bremerhaven, Germany). A total of 33 cases were positive discordant (FISH-positive, IHC-negative) and 17 cases were negative discordant (FISH-negative, IHC-positive). This study's aim was to reevaluate the methods used and compare discordant samples to positive concordant samples in order to ellucidate the differences. FISH signal variants were examined and compared. Positive discordant cases featured one pattern of ALK rearrangement in 41.4%, two patterns in 48.3%, and three patterns in 10.3% of analysed samples, with a higher variability of detected patterns and a higher number of ALK copy gains. Positive concordant cases displayed one pattern of rearrangement in 82%, two patterns in 17.8%, and three patterns in 0.6% of analysed samples. The association between number of patterns and concordance/discordance was statistically significant (p < 0.05). Eleven positive discordant and two negative concordant cases underwent NGS analysis, which resulted in identification of ALK fusion in one positive discordant and two negative discordant cases. Positive protein expression regardless of FISH result correlated more with a positive NGS result compared to samples with a positive FISH result with negative protein expression. FISH analysis was able to detect atypical or heterogenous patterns of rearrangement in a proportion of cases with negative protein expression, which may be associated with more extensive genetic alterations rather than true ALK rearrangement.

Principle, technique and application of grassland improvement.

Global grassland degradation poses a significant threat to the sustainable socio-economic development of humanity. However, this trend can be effectively mitigated through scientifically sound and rational grassland improvement measures. Grassland improvement utilizes the theory of pratacultural science, especially the theory of the four production levels of grassland agro-ecosystems, to solve the fundamental contradiction between the seasonal imbalance of grassland supply and livestock demand through integrates a number of improvement techniques. In order to clarify the implementation subject, target and specific measures of grassland improvement and to improve the science and efficiency of management and conservation, we classify grassland improvement into four types according to the target, scale and attributes of grassland and livestock feedback mechanism. Grassland improvement is generally based on one key technology, with multiple technologies used in combination, and synergy or superposition formed between integrated technologies. Individual technologies mainly include enclosure of livestock, reclamation, ripping, overseeding, fertilization, irrigation, fire work and grazing management, while integrated technologies are a combination of two or more technologies. Compared to individual techniques, the integrated approach resulted in a significant enhancement of community aboveground biomass by 17-38% and species richness by 2-24%, with no discernible impact on soil properties in the short term. The establishment of a standardized grazing-based improvement process while adhering to the principles of improvement after utilization, comprehensiveness, standardization and scale consistence to improve the structure and function of grassland ecosystems. Strategy of grassland improvement reassesses "nuisance" species as "citizens" of the ecosystem because they supply productivity, species biodiversity and other ecosystem services, and they can be managed at an unharmful and even benefitful level through identifying the ecological and economic thresholds.

Is language a barrier in the management of acute appendicitis?

BACKGROUND: Language preference is a contributing factor for prolonged time from symptom onset to appendectomy within pediatrics, but is poorly characterized in adults. We aimed to investigate associations between language barriers and delays in assessment and treatment for adults with acute appendicitis. METHODS: In a multiethnic community, patients aged ≥18 years old who underwent appendectomy were identified between January 2017 and August 2022 at a single institution. Negative binomial regression was used to compare interval wait times to imaging, medication administration, and surgical evaluation between patients with limited English proficiency and those who are English proficient. RESULTS: Of the 1469 patients included, 48% (n = 699) were with limited English proficiency. Average age was higher for patients with limited English proficiency (45 vs 36, P < .001). Most of them were Asian (54%) and without private insurance (65%, P < .001). Symptom duration, incidence of septic shock, and date/time of presentation to the emergency department were similar. Patients with limited English proficiency presented more frequently with gangrenous appendicitis (20% vs 15%, P = .013) but not perforated (23% vs 20%, P = .065). They experienced longer wait times for surgical evaluation (376 vs 348 min, incidence rate ratio [IRR], 1.08; P = .002) but similar times for imaging, and medications administered. After controlling for demographics, triage acuity, and hospital factors, significantly longer wait times for surgical evaluation persisted (IRR adjusted, 1.07; P = .038). There was no significant difference in hospital length-of-stay, postoperative infection, or 30-day readmission rate. CONCLUSION: Adult patients with limited English proficiency may experience longer wait times for surgical evaluation for acute appendicitis, but this may not result in clinically significant delays in the initiation of treatment.

ECG and Atrial Appendage Doppler Discordance Is Common in Patients Undergoing Cardiac Surgery: Prospective Study.

Background: Patients with atrial fibrillation (AF) remain at increased risk of thromboembolism despite apparent maintenance of sinus rhythm with the cause often attributed to periods of asymptomatic AF. Atrial mechanical discordance, with the body of the left atrium (LA) in sinus rhythm and the left atrial appendage (LAA) in AF may also be a contributor. Objectives: The purpose of this study was to assess the frequency of electrocardiogram (ECG) rhythm and LAA and/right atrial appendage (RAA) Doppler ejection phenotype (transesophageal echocardiography [TEE]) discordance in patients undergoing cardiac surgery. Methods: A total of 124 patients undergoing coronary artery bypass graft (CABG), CABG and valve surgery, or isolated valve repair or replacement (valve ± CABG) were prospectively studied. Intraoperative surface ECG rhythm strip and TEE were performed before cardiopulmonary bypass. The ECG and TEE LAA/RAA Doppler spectrum were independently classified as sinus or AF. Results: Of 107 patients (age 65 ± 12 years; 31% female; 65% CABG, 31% valve ± CABG) without a history of AF, 39 (36%) had ECG and LAA and/or RAA discordance (ECG/LAA Doppler discordance, n = 12 [11%]; ECG/RAA Doppler discordance, n = 35 [33%]). There was no significant difference between concordant and discordant groups with regard to age, gender, history of hypertension, diabetes, heart failure, or stroke (all P > 0.05). Conclusions: A large minority of patients without a history of AF undergoing cardiac surgery have ECG/atrial appendage Doppler discordance, a setting that may promote thromboembolism in non-anticoagulated patients. Clinical parameters do not identify patients at increased risk for discordance.

Importance of Bilateral Hip Assessments in Unilateral Lower-Limb Amputees: A Retrospective Review Involving Older Veterans.

Background/Objectives: This study aimed to evaluate bone mineral density (BMD) discordance and its implications in veterans with unilateral lower-limb amputation, emphasizing the need for comprehensive hip assessments. Methods: Data were collected from 84 male veterans, and BMD was measured using dual-energy X-ray absorptiometry (DXA) at the lumbar spine, intact hip, and amputated hip. Results: The T-scores for the lumbar spine, intact hip, and amputated hip were -0.27 ± 1.69, -0.25 ± 1.20, and -1.07 ± 1.33, respectively. Osteoporosis and osteopenia were present in 19% and 34.6% of patients, respectively. Osteopenia and osteoporosis were most prevalent in the hips on the amputated side (32.1% and 13.1%, respectively), followed by the lumbar spines (22.6% and 8.3%) and the hips on the intact side (17.9% and 2.4%). BMD discordance between the lumbar spine and hip was found in 47.6% of participants, while discordance between both hips was observed in 39.3%. Transfemoral amputees had significantly lower BMD at the amputated hip compared to transtibial amputees (-2.38 ± 1.72 vs. -0.87 ± 1.16, p < 0.001). Conclusions: Veterans with unilateral lower-limb amputation exhibit a high prevalence of osteoporosis and significant BMD discordance, particularly between both hips. These findings underscore the necessity for bilateral hip assessments to ensure the accurate diagnosis and effective management of osteoporosis in this population.

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.

Sex chromosome aneuploidies (SCAs) collectively occur in 1 in 500 livebirths, and diagnoses in the neonatal period are increasing with advancements in prenatal and early genetic testing. Inevitably, SCA will be identified on either routine prenatal or newborn screening in the near future. Tetrasomy SCAs are rare, manifesting more significant phenotypes compared to trisomies. Prenatal cell-free DNA (cfDNA) screening has been demonstrated to have relatively poor positive predictive values (PPV) in SCAs, directing genetic counseling discussions towards false-positive likelihood rather than thoroughly addressing all possible outcomes and phenotypes, respectively. The eXtraordinarY Babies study is a natural history study of children prenatally identified with SCAs, and it developed a longitudinal data resource and common data elements with the Newborn Screening Translational Research Network (NBSTRN). A review of cfDNA and diagnostic reports from participants identified a higher than anticipated rate of discordance. The aims of this project are to (1) compare our findings to outcomes from a regional clinical cytogenetic laboratory and (2) describe discordant outcomes from both samples. Twenty-one (10%), and seven (8.3%) cases were found to be discordant between cfDNA (result or indication reported to lab) and diagnosis for the Babies Study and regional laboratory, respectively. Discordant results represented six distinct discordance categories when comparing cfDNA to diagnostic results, with the largest groups being Trisomy cfDNA vs. Tetrasomy diagnosis (66.7% of discordance in eXtraordinarY Babies study) and Mosaicism (57.1% in regional laboratory). Traditional genetic counseling for SCA-related cfDNA results is inadequate given a high degree of discordance that jeopardizes the accuracy of the information discussed and informed decision making following prenatal genetic counseling.

Outcomes of Deceased Donor Kidney Recipients From the Same Donor Based on Donor-Recipient Sex Discordance.

INTRODUCTION: Outcomes of deceased donor kidney transplant (DDKT) recipients from the same donor with donor-recipient sex discordance have been studied with inconsistent results. METHODS: Adult DDKT where both kidneys from the same donor occurred at our center in two different recipients of different sexes were included. Outcomes were analyzed separately for male and female donors, based on the concordance or discordance between donor-recipient sex: Male-male (M-m) versus Male to female (M-f) or vice versa, F-f versus F-m. Acute rejection (AR) and uncensored graft failure were primary outcomes of interest. The univariate and multivariate risks for AR and graft failure were conducted using the Cox proportional hazards model and log-rank tests. RESULTS: A total of 130 donors, 84 male and 46 female fulfilled our selection criteria and were transplanted in 260 recipients. With respect to the concordant groups (M-m or F-f), sex discordance was not significantly associated with the risk of rejection in multivariate analysis (M-f vs. M-m HR 1.15 [0.53-2.53, P = 0.72]; F-m vs. F-f HR 1.77 [0.71-4.39, P = 0.23]). Sex discordance was also not significantly associated with graft failure in multivariate analysis. Interestingly, risk factors for AR differed among male donors and female donors. The higher calculated panel reactive antibodies (cPRA) and nonwhite recipients were at increased risk for AR in F-m, but not in M-f. CONCLUSIONS: Donor-recipient sex discordance was not significantly associated with AR or graft failure. Risk factors for AR may differ across male and female donors.

Discordant Perception of Disease Activity Between Providers and Adolescents with Systemic Lupus Erythematosus: A Cohort Study.

Discordance in perception of disease activity between adolescent patients with lupus and their providers may influence disease outcomes. We found that patients endorsed higher perceptions of disease activity than providers. Discordance was present at all levels of disease activity, particularly in patients with high activity, nephritis, and/or taking corticosteroids or mycophenolate mofetil.

MR Evaluation of Placenta Accreta Spectrum: Concordance Rates and Effect of Structured Reporting on Patient Outcomes.

OBJECTIVE: To examine the concordance rate of MRI findings with intraoperative and pathologic findings in patients with Placenta Accreta Spectrum (PAS), as well as the use of structured reporting, and their relationship to clinical outcomes. METHODS: An IRB approved retrospective chart review was performed for patients with a history of cesarean delivery, a diagnosis of PAS on post-operative pathology report, and a placental MRI prior to delivery between 2008-2022. Concordance rates were calculated between final MRI, ultrasound, operative, and pathologic diagnoses, as well as impact on clinical outcomes. Quantitative variables were analyzed using a t-test. Categorical variables were analyzed using chi-squared and Fischer's exact tests. RESULTS: A total of 59 patients met initial inclusion criteria. Of these 59 patients, 8 (13.6%) were interpreted using structured reporting. Discordance between preoperative imaging, operative findings and final pathology diagnoses were associated with increased blood loss, blood transfusion, ICU admission, and postpartum length of stay. Structured reporting was found to significantly reduce the amount of diagnostic discordance (p=.017) and was associated with decreased ICU admissions when utilized (p=.045). CONCLUSIONS: Use of structured reporting in the interpretation of placental MRI may decrease the amount of discordance between imaging and intraoperative or pathologic diagnoses, which in our study is associated with improved patient outcomes including decreased blood loss and amount of blood transfused. Radiologists must be cognizant of key imaging features of PAS on MRI, as interpretation provides an opportunity to positively impact the quality and safety of patient care.

Whole Genomes Reveal Evolutionary Relationships and Mechanisms Underlying Gene-Tree Discordance in Neodiprion Sawflies.

Rapidly evolving taxa are excellent models for understanding the mechanisms that give rise to biodiversity. However, developing an accurate historical framework for comparative analysis of such lineages remains a challenge due to ubiquitous incomplete lineage sorting and introgression. Here, we use a whole-genome alignment, multiple locus-sampling strategies, and summary-tree and SNP-based species-tree methods to infer a species tree for eastern North American Neodiprion species, a clade of pine-feeding sawflies (Order: Hymenopteran; Family: Diprionidae). We recovered a well-supported species tree that-except for three uncertain relationships-was robust to different strategies for analyzing whole-genome data. Nevertheless, underlying gene-tree discordance was high. To understand this genealogical variation, we used multiple linear regression to model site concordance factors estimated in 50-kb windows as a function of several genomic predictor variables. We found that site concordance factors tended to be higher in regions of the genome with more parsimony-informative sites, fewer singletons, less missing data, lower GC content, more genes, lower recombination rates, and lower D-statistics (less introgression). Together, these results suggest that incomplete lineage sorting, introgression, and genotyping error all shape the genomic landscape of gene-tree discordance in Neodiprion. More generally, our findings demonstrate how combining phylogenomic analysis with knowledge of local genomic features can reveal mechanisms that produce topological heterogeneity across genomes.