Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular accumulation of cystine. We attempted to assess the currently poorly characterized prevalence of cystinosis by employing a population genetics methodology. However, we encountered a significant challenge due to genetic variations across different populations, and the consideration of potential disparities in access to healthcare made our results inconclusive. Pathogenic CTNS variants were identified in a representative global population cohort using The Human Gene Mutation Database (HGMD) and the 1000 Genomes (1 KG) database. The c.124G>A (p.Val42Ile) variant was reported to be pathogenic based on an observation in the white population presenting with atypical phenotypes, but it would be reclassified as benign in the African ancestral group if applying the ACMG allele frequency guideline due to its high allele frequency specifically in this population. Inclusion or exclusion of this c.124G>A (p.Val42Ile) variant results in a significant change in estimated disease prevalence, which can impact the diagnosis and treatment of affected patients with a broad range of phenotypic presentations. This observation led us to postulate that pathogenic manifestations of the disease may be underdiagnosed due to variable expressivity and systemic inequities in access to care, specifically in the African subpopulation. We call for a more cautious and inclusive approach to achieve more equitable care across diverse populations.

Identification and experimental validation of programmed cell death- and mitochondria-associated biomarkers in osteoporosis and immune microenvironment.

Background: Prior research has demonstrated that programmed cell death (PCD) and mitochondria assume pivotal roles in controlling cellular metabolism and maintaining bone cell equilibrium. Nonetheless, the comprehensive elucidation of their mode of operation in osteoporosis (OP) warrants further investigation. Therefore, this study aimed at analyzing the role of genes associated with PCD (PCD-RGs) and mitochondria (mortality factor-related genes; MRGs) in OP. Methods: Differentially expressed genes (DEGs) were identified by subjecting the GSE56815 dataset obtained from the Gene Expression Omnibus database to differential expression analysis and comparing OP patients with healthy individuals. The genes of interest were ascertained through the intersection of DEGs, MRGs, and PCD-RGs; these genes were filtered using machine learning methodologies to discover potential biomarkers. The prospective biomarkers displaying uniform patterns and statistically meaningful variances were identified by evaluating their levels in the GSE56815 dataset and conducting quantitative real-time polymerase chain reaction-based assessments. Moreover, the functional mechanisms of these biomarkers were further delineated by constructing a nomogram, which conducted gene set enrichment analysis, explored immune infiltration, generated regulatory networks, predicted drug responses, and performed molecular docking analyses. Results: Eighteen candidate genes were documented contingent upon the intersection between 2,354 DEGs, 1,136 MRGs, and 1,548 PCD-RGs. The biomarkers DAP3, BIK, and ACAA2 were upregulated in OP and were linked to oxidative phosphorylation. Furthermore, the predictive ability of the nomogram designed based on the OP biomarkers exhibited a certain degree of accuracy. Correlation analysis revealed a strong positive correlation between CD56dim natural killer cells and ACAA2 and a significant negative correlation between central memory CD4+ T cells and DAP3. DAP3, BIK, and ACAA2 were regulated by multiple factors; specifically, SETDB1 and ZNF281 modulated ACAA2 and DAP3, whereas TP63 and TFAP2C governed DAP3 and BIK. Additionally, a stable binding force was observed between the drugs (estradiol, valproic acid, and CGP52608) and the biomarkers. Conclusion: This investigation evidenced that the biomarkers DAP3, BIK, and ACAA2 are associated with PCD and mitochondria in OP, potentially facilitate the diagnosis of OP in clinical settings.

Synchronized crystallization in tin-lead perovskite solar cells.

Tin-lead halide perovskites with a bandgap near 1.2 electron-volt hold great promise for thin-film photovoltaics. However, the film quality of solution-processed Sn-Pb perovskites is compromised by the asynchronous crystallization behavior between Sn and Pb components, where the crystallization of Sn-based perovskites tends to occur faster than that of Pb. Here we show that the rapid crystallization of Sn is rooted in its stereochemically active lone pair, which impedes coordination between the metal ion and Lewis base ligands in the perovskite precursor. From this perspective, we introduce a noncovalent binding agent targeting the open metal site of coordinatively unsaturated Sn(II) solvates, thereby synchronizing crystallization kinetics and homogenizing Sn-Pb alloying. The resultant single-junction Sn-Pb perovskite solar cells achieve a certified power conversion efficiency of 24.13 per cent. The encapsulated device retains 90 per cent of the initial efficiency after 795 h of maximum power point operation under simulated one-sun illumination.

Exploring the Sustainability of Upcycled Foods: An Analysis of Consumer Behavior in Taiwan.

Given the urgent climate change and food security challenges, upcycled food products are crucial for sustainable food production and waste management. This study investigates Taiwanese consumer behavior towards upcycled foods using the value-attitude-behavior (VAB) theory, focusing on "product knowledge", "green perceived quality", and "price sensitivity". Of the 335 distributed surveys, 320 valid responses (95.5% effectiveness) were analyzed. The results indicated that eco-conscious values strongly influenced consumer attitudes and anticipated guilt (ß = 0.647, p < 0.001; ß = 0.691, p < 0.001), shaping behavioral intentions (ß = 0.290, p < 0.001). Attitudes significantly correlated with intentions, validating the VAB framework. However, anticipated guilt showed a minimal impact (ß = 0.029, p = 0.629), revealing complex consumer emotions. Green perceived quality and product knowledge were the key decision-making factors (ß = 0.193, p < 0.001; ß = 0.146, p < 0.001). Surprisingly, price sensitivity positively influences intentions (ß = 0.764, p < 0.001), suggesting the consumer prioritization of quality and environmental values over price. These insights inform strategies for businesses to enhance consumer engagement and sustainability alignment, advancing progress towards Sustainable Development Goals (SDGs).

Accelerated Proton Transfer in Asymmetric Active Units for Sustainable Acidic Oxygen Evolution Reaction.

The poor durability of Ru-based catalysts limits the practical application in proton exchange membrane water electrolysis (PEMWE). Here, we report that the asymmetric active units in Ru1-xMxO2 (M = Sb, In, and Sn) binary solid solution oxides are constructed by introducing acid-resistant p-block metal sites, breaking the activity and stability limitations of RuO2 in acidic oxygen evolution reaction (OER). Constructing highly asymmetric Ru-O-Sb units with a strong electron delocalization effect significantly shortens the spatial distance between Ru and Sb sites, improving the bonding strength of the overall structure. The unique two-electron redox couples at Sb sites in asymmetric active units trigger additional chemical steps at different OER stages, facilitating continuous proton transfer. The optimized Ru0.8Sb0.2O2 solid solution requires a superlow overpotential of 160 mV at 10 mA cm-2 and a record-breaking stability of 1100 h in an acidic electrolyte. Notably, the scale-prepared Ru0.8Sb0.2O2 achieves efficient PEMWE performance under industrial conditions. General mechanism analysis shows that the enhanced proton transport in the asymmetric Ru-O-M unit provides a new working pathway for acidic OER, breaking the scaling relationship without sacrificing stability.

Encapsulation of Sn Sub-nanoclusters in Multichannel Carbon Matrix for High-Performance Potassium-ion Batteries.

Sub-nanoclusters with ultra-small particle sizes are particularly significant to create advanced energy storage materials. Herein, Sn sub-nanoclusters encapsulated in nitrogen-doped multichannel carbon matrix (denoted as Sn-SCs@MCNF) are designed by a facile and controllable route as flexible anode for high-performance potassium ion batteries (PIBs). The uniformly dispersed Sn sub-nanoclusters in multichannel carbon matrix can be precisely identified, which ensure us to clarify the size influence on the electrochemical performance. The sub-nanoscale effect of Sn-SCs@MCNF restrains electrode pulverization and enhances the K+ diffusion kinetics, leading to the superior cycling stability and rate performance. As freestanding anode in PIBs, Sn-SCs@MCNF manifests superior K+ storage properties, such as exceptional cycling stability (331 mAh g-1 after 150 cycles at 100 mA g-1) and rate capability. Especially, the Sn-SCs@MCNF||KFe[Fe(CN)6] full cell demonstrates impressive reversible capacity of 167 mAh g-1 at 0.4 A g-1 even after 200 cycles. Theoretical calculations clarify that the ultrafine Sn sub-nanoclusters are beneficial for electron transfer and contribute to the lower energy barriers of the intermediates, thereby resulting in promising electrochemical performance. Comprehensive investigation for the intrinsic K+ storage process of Sn-SCs@MCNF is revealed by in situ analysis. This work provides vital guidance to design sub-nanoscale functional materials for high-performance energy-storage devices.

Perceived cultural humility in supervision group and trainees' cultural responsiveness self-efficacy.

Trainees often express anxieties when working with clients from different sociocultural backgrounds. Group supervision can provide a space to address such concerns, including managing culturally related countertransference and understanding sociocultural factors in issues faced by clients. This process requires critical consciousness and discussion of trainees' and clients' cultural identities. This study built on research highlighting the positive role of cultural humility in individual supervision and group therapy to examine cultural humility in group supervision and its contribution to trainees' self-efficacy in adapting therapy and managing relationship conflicts with a range of clients (i.e., cultural responsiveness self-efficacy), via sociocultural awareness and minimal cultural concealment about themselves and their clients. Ninety-one master's level counseling trainees in Hong Kong from 18 supervision groups in two training programs completed measures of cultural humility, cultural concealment, sociocultural awareness, and cultural responsiveness self-efficacy. Multilevel modeling indicated that, at the within-trainee level, higher group cultural humility was associated with higher sociocultural awareness and lower cultural concealment about themselves and their clients. Greater sociocultural awareness, but not cultural concealment, was, in turn, linked to higher cultural responsiveness self-efficacy. At the between-trainee level, higher group cultural humility correlated with lower trainee cultural concealment, but not sociocultural awareness, which was associated with cultural responsiveness self-efficacy, although no mediation was observed. This study underscores the value of cultural humility in the context of group supervision. Implications for multicultural group supervision are discussed. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Comparative analysis of microbial community under acclimation of linear alkylbenzene sulfonate (LAS) surfactants and degradation mechanisms of functional strains.

Linear alkylbenzene sulfonate (LAS) is one of the most widely used anionic surfactants and a common toxic pollutant in wastewater. This study employed high throughput sequencing to explore the microbial community structure within activated sludge exposed to a high concentration of LAS. Genera such as Pseudomonas, Aeromonas, Thauera and Klebsiella exhibited a significant positive correlation with LAS concentrations. Furthermore, Comamonas and Klebsiella were significantly enriched under the stress of LAS. Moreover, bacterial strains with LAS-degrading capability were isolated and characterized to elucidate the degradation pathways. The Klebsiella pneumoniae isolate L1 could effectively transform more than 60 % of 25 mg/L of LAS within 72 h. Chemical analyses revealed that L1 utilized the LAS sulfonyl group as a sulfur source to support its growth. Genomic and transcriptomic analyses suggested that strain L1 may uptake LAS through the sulfate ABC transport system and remove sulfonate with sulfate and sulfite reductases.

Effects of ball milling treated wheat flour and maltodextrin on the texture and oil absorption properties of fried batter-coated cashews and almonds.

In this study, the effects of wheat flour treated with ball milling (BM) and maltodextrin on the oil absorption and textural characteristics of fried batter-coated cashews and almonds (BCAs) were investigated. The result showed that the crystallinity of the starch granules in wheat flour decreased after the BM treatment. Furthermore, the ΔH of the batter decreased as the BM time was elongated, but the addition of maltodextrin had no significant impact on ΔH. Both BM-treated wheat flour and maltodextrin increased the fracturability and decreased the oil content of the fried BCAs' batter. The addition of BM-treated wheat flour and maltodextrin decreased the oil content of the batter from 28.93% to 18.75% for batter-coated cashews and from 30.92% to 18.61% for batter-coated almonds. Overall, the addition of BM-treated wheat flour and maltodextrin in batter is an effective approach to decrease oil content and improve the textural quality of fried BCAs.

Manganese-coordinated nanoparticle with high drug-loading capacity and synergistic photo-/immuno-therapy for cancer treatments.

Stimulator of interferon genes (STING) agonists have shown promise in cancer treatment by stimulating the innate immune response, yet their clinical potential has been limited by inefficient cytosolic entry and unsatisfactory pharmacological activities. Moreover, aggressive tumors with "cold" and immunosuppressive microenvironments may not be effectively suppressed solely through innate immunotherapy. Herein, we propose a multifaceted immunostimulating nanoparticle (Mn-MC NP), which integrates manganese II (Mn2+) coordinated photosensitizers (chlorin e6, Ce6) and STING agonists (MSA-2) within a PEGylated nanostructure. In Mn-MC NPs, Ce6 exerts potent phototherapeutic effects, facilitating tumor ablation and inducing immunogenic cell death to elicit robust adaptive antitumor immunity. MSA-2 activates the STING pathway powered by Mn2+, thereby promoting innate antitumor immunity. The Mn-MC NPs feature a high drug-loading capacity (63.42 %) and directly ablate tumor tissue while synergistically boosting both adaptive and innate immune responses. In subsutaneous tumor mouse models, the Mn-MC NPs exhibit remarkable efficacy in not only eradicating primary tumors but also impeding the progression of distal and metastatic tumors through synergistic immunotherapy. Additionally, they contribute to preventing tumor recurrence by fostering long-term immunological memory. Our multifaceted immunostimulating nanoparticle holds significant potential for overcoming limitations associated with insufficient antitumor immunity and ineffective cancer treatment.

Effect of delayed diagnosis on neuroendocrine function in individuals with suprasellar germ cell tumors.

Purpose: The impact of delayed diagnosis on tumor-related prognosis appears to be minimal in individuals with intracranial germ cell tumors (iGCTs). However, its effect on neuroendocrine functions remains unclear. We aimed to assess the effects of delayed diagnosis on neuroendocrine function in individuals with suprasellar GCTs. Methods: We conducted a retrospective cohort study of 459 individuals with suprasellar GCTs and categorized them into two groups based on disease duration: delayed diagnosis (> 6 months) and non-delayed diagnosis (≤ 6 months). We compared endocrinological symptoms, neuroendocrine dysfunction and its grading (categorized into 0-3 grades based on severity), and recovery from neuroendocrine dysfunction in both groups. Results: Patients with delayed diagnosis exhibited higher incidences of amenorrhea, slow growth, fatigue, and polyuria/polydipsia. Neuroendocrine dysfunction, including central adrenal insufficiency (CAI), central hypothyroidism (CHT), arginine vasopressin deficiency (AVP-D), growth hormone deficiency, hypogonadism, and hyperprolactinemia, was more pronounced in the delayed diagnosis group at diagnosis, the end of treatment, and the last follow-up. Furthermore, individuals with delayed diagnosis showed higher grades of neuroendocrine dysfunction at diagnosis (OR=3.005, 95% CI 1.929-4.845, p<0.001), end of oncologic treatment (OR=4.802, 95% CI 2.878-8.004, p<0.001), and last follow-up(OR=2.335, 95% CI 1.307-4.170, p=0.005) after adjusting for confounders. Finally, less recovery, particularly in CAI, CHT, and AVP-D, was seen among the group with delayed diagnosis after treatment. Conclusion: Among individuals with suprasellar GCTs, delayed diagnosis is associated with increased, more severe, and less recovered neuroendocrine dysfunction, emphasizing the importance of early diagnosis and treatment to reduce neuroendocrine dysfunction.

Psychometric property and measurement invariance of perceived benefits and barriers of physical activity in Chinese adolescents.

Background: The perceived benefits and barriers to physical activity play crucial roles in determining daily physical activity levels. However, previous studies have employed tools lacking adequate validation, leading to inconsistent conclusions about the impact of these two factors. Therefore, this national, population-based study was conducted to assess the psychometric properties, measurement invariance, and predictive validity of the Chinese versions of the perceived benefits (C-PBEPA) and barriers to physical activity (C-PBAPA) scales. Methods: The final sample (N = 2942, 49.3 % for boys) was randomly split into two subsamples. The first subsample was used for exploratory factor analysis and the second subsample was used for confirmatory factor analysis. Measurement invariance across gender and age groups were examined. Structural equation models were developed to examine the predictive validity of the revised C-PBEPA and C-PBAPA on moderate to vigorous PA. Results: The results showed that both scales were unidimensional, had excellent model fit (e.g., X 2/df < 3, CFI >0.9, RMSEA <0.06) and demonstrated convergent validity. Findings also revealed lack of scalar invariance for C-PBAPA between preadolescents and adolescents' groups (ΔCFI >0.01) and supported the predictive validity of both scales (p < 0.001). Conclusion: The study demonstrated that the revised C-PBEPA and C-PBAPA are valid scales for measuring Chinese adolescents' perceived benefits and barriers to PA.

Dimethyl fumarate ameliorates oxidative stress-induced acute kidney injury after traumatic brain injury by activating Keap1-Nrf2/HO-1 signaling pathway.

Acute kidney injury (AKI) frequently emerges as a consequential non-neurological sequel to traumatic brain injury (TBI), significantly contributing to heightened mortality risks. The intricate interplay of oxidative stress in the pathophysiology of TBI underscores the centrality of the Keap1-Nrf2/HO-1 signaling pathway as a pivotal regulator in this context. This study endeavors to elucidate the involvement of the Keap1-Nrf2/HO-1 pathway in modulating oxidative stress in AKI subsequent to TBI and concurrently explore the therapeutic efficacy of dimethyl fumarate (DMF). A rat model of TBI was established via the Feeney free-fall method, incorporating interventions with varying concentrations of DMF. Assessment of renal function ensued through measurements of serum creatinine and neutrophil gelatinase-associated lipocalin. Morphological evaluation of renal pathology was conducted employing quantitative hematoxylin and eosin staining. The inflammatory response was scrutinized by quantifying interleukin (IL)-6, IL-1ß, and tumor necrosis factor-α levels. Oxidative stress levels were discerned through quantification of malondialdehyde and superoxide dismutase. The apoptotic cascade was examined via the terminal deoxynucleotidyl transferase dUTP deletion labeling assay. Western blotting provided insights into the expression dynamics of proteins affiliated with the Keap1-Nrf2/HO-1 pathway and apoptosis. The findings revealed severe kidney injury, heightened oxidative stress, inflammation, and apoptosis in the traumatic brain injury model. Treatment with DMF effectively reversed these changes, alleviating oxidative stress by activating the Keap1-Nrf2/HO-1 signaling pathway, ultimately conferring protection against AKI. Activating Keap1-Nrf2/HO-1 signaling pathway may be a potential therapeutic strategy for attenuating oxidative stress-induced AKI after TBI.

A metal-coordination stabilized small-molecule nanomedicine with high drug-loading capacity and synergistic photochemotherapy for cancer treatment.

Conventional nanomedicines typically employ a significant amount of excipients as carriers for therapeutic delivery, resulting in generally low drug-loading and compromised anti-cancer efficacy. Here, we propose a small-molecule nanomedicine (CMC NP) directly assembled using a chemotherapeutic drug (chlorambucil, CBL) and a phototherapeutic agent (chlorin e6, Ce6), and stabilized by metal coordination. The CMC NP exhibits exceptionally high drug loading (89.21%), robust stability, and smart disassembly in response to glutathione (GSH). Such a straightforward yet multifunctional delivery strategy could be a better alternative to overcome the above shortcomings of conventional nanomedicines while achieving enhanced efficacy. The CMC NP not only directly induces CBL-induced chemotherapy but also elicits synergistic antitumor responses through Ce6-mediated photodynamic and photothermal therapies. Owing to the multifaceted efforts from photodynamic, photothermal and chemo-therapies, the CMC NP exhibits excellent antitumor efficacy with negligible systemic toxicity which is untenable in traditional CBL-induced chemotherapy. Therefore, this study provides a feasible strategy for overcoming existing challenges and presents a potential opportunity to augment the clinical therapeutic effectiveness associated with conventional nanomedicine.

FedGMMAT: Federated generalized linear mixed model association tests.

Increasing genetic and phenotypic data size is critical for understanding the genetic determinants of diseases. Evidently, establishing practical means for collaboration and data sharing among institutions is a fundamental methodological barrier for performing high-powered studies. As the sample sizes become more heterogeneous, complex statistical approaches, such as generalized linear mixed effects models, must be used to correct for the confounders that may bias results. On another front, due to the privacy concerns around Protected Health Information (PHI), genetic information is restrictively protected by sharing according to regulations such as Health Insurance Portability and Accountability Act (HIPAA). This limits data sharing among institutions and hampers efforts around executing high-powered collaborative studies. Federated approaches are promising to alleviate the issues around privacy and performance, since sensitive data never leaves the local sites. Motivated by these, we developed FedGMMAT, a federated genetic association testing tool that utilizes a federated statistical testing approach for efficient association tests that can correct for confounding fixed and additive polygenic random effects among different collaborating sites. Genetic data is never shared among collaborating sites, and the intermediate statistics are protected by encryption. Using simulated and real datasets, we demonstrate FedGMMAT can achieve the virtually same results as pooled analysis under a privacy-preserving framework with practical resource requirements.

Comparisons of Various Anthropometric Indices for Incident Hypertension in Military Young Adults: The CHIEF Cohort Study.

AIM: The study aimed to compare the predictive capabilities of the traditional anthropometric indices with the novel anthropometric indices for incident hypertension. BACKGROUND: Some novel anthropometric indices, e.g., the Body Roundness Index (BRI) and A Body Shape Index (ABSI) have been associated with prevalent hypertension. There are a few cohort studies that have examined the association of the novel anthropometric indices with newonset hypertension in young adults. METHODS: This study included 2,448 military male and female young adults, aged 18-39 years, free of hypertension at baseline in Taiwan; they were followed for incidence of hypertension from 2014 till the end of 2020. Blood Pressure (BP) in mmHg was measured twice and averaged to verify hypertension, which was defined as systolic BP ≥130 and/or diastolic BP ≥80 or on antihypertensive medication therapy in each annual health examination. Anthropometric indices included the Body Mass Index (BMI) defined as the weight (kg)/height squared (m2), Waist Girth (WC) in cm, the Waist-to-height Ratio (WHtR), the BRI defined as 364.2 - 365.5 × {1 - [(WC/2π)/(0.5 × height)]2}0.5, as well as ABSI defined as WC/(BMI2/3 × height1/2). Multiple Cox regression analysis and Area Under the Curve (AUC) of the Receiver of Operating Characteristics (ROC) were utilized with adjustments for the baseline potential covariates to determine the association and compare the performance of various indices for incident hypertension. RESULTS: During a median follow-up period of 6.0 years, 920 new-onset hypertension cases (37.6%) developed. Higher BMI, WC, BRI (per each 1-unit increase) and WHtR (per each 0.1- unit increase) were associated with a greater risk of new-onset hypertension [Hazard Ratios (HRs) and 95% confidence intervals: 1.060 (1.035-1.085), 1.021 (1.011-1.030), and 1.178 (1.077-1.288), respectively], whereas there was no association between ABSI and new-onset hypertension. For the ROC, WC was observed with the greatest AUC for incident new-onset hypertension [0.661 (0.638-0.683)], followed by BMI [0.650 (0.628-0.673)], while the ABSI was found with the lowest AUC [0.544 (0.521-0.568)]. CONCLUSION: Most of the anthropometric indices were associated with a higher risk of new-onset hypertension among young adults, except for ABSI. In addition, this study has suggested the traditional indices, such as WC and BMI, to be superior to the latest ones, e.g., BRI and ABSI, for the prediction of new-onset hypertension.

Asian Screening Array and Next-Generation Sequencing Based Panels Applied to Preimplantation Genetic Testing for Monogenic Disorders Preclinical Workup in 294 Families: A Retrospective Analysis.

OBJECTIVE: Currently, the most commonly used methods for linkage analysis of pre-implantation genetic testing for monogenic disorders (PGT-M) are next generation sequencing (NGS) and SNP array. We aim to investigate whether the application efficacy of Asian screening array (ASA) in PGT-M preclinical workup for the Chinese population is superior to NGS based single nucleotide polymorphism (SNP) panels. METHODS: We conducted a retrospective analysis by reviewing 294 couples from a single center over the past 4 years and compared the detection results between NGS-based SNP panels and ASA. Using the numbers of informative SNPs upstream and downstream flanking of variants, we assessed the detection efficiency of both methods in monogenic diseases, chromosomal microdeletion syndrome and males with de novo variants, among other scenarios. RESULTS: Results indicate that ASA offers a greater number of informative SNPs compared with NGS-based SNP panels. Additionally, data analysis for ASA is generally more straightforward and may require less computational resources. While ASA can address most PGT-M challenges, we have also identified certain genes in previous tests that are not suitable for PGT-M using ASA. CONCLUSION: The application of ASA in PGT-M preclinical workup for Chinese populations has good practical value as it can perform linkage analysis for most genetic variants. However, for certain variants, NGS or other testing methods, such as mutated allele revealed by sequencing with aneuploidy and linkage analysis (MARSALA), may still be necessary for completion.

Congenital Syphilis in Live Births: Adverse Outcomes, Hospital Length of Stay, and Costs.

OBJECTIVE: To examine temporal trends and risk factors for congenital syphilis in newborn hospitalizations and to evaluate the association between adverse outcomes and congenital syphilis and health care utilization for newborn hospitalizations complicated by congenital syphilis. METHODS: We conducted a retrospective, cross-sectional study using data from the National Inpatient Sample to identify newborn hospitalizations in the United States between 2016 and 2020. Newborns with congenital syphilis were identified with International Classification of Diseases, Tenth Revision, Clinical Modification codes. Adverse outcomes, hospital length of stay, and hospital costs were examined. The annual percent change was calculated to assess congenital syphilis trend. A multivariable Poisson regression model with robust error variance was used to examine the association between congenital syphilis and adverse outcomes. Adjusted relative risks (RRs) with 95% CIs were calculated. A multivariable generalized linear regression model was used to examine the association between congenital syphilis and hospital length of stay and hospital costs. Adjusted mean ratios with 95% CIs were calculated. RESULTS: Of 18,119,871 newborn hospitalizations in the United States between 2016 and 2020, the rate of congenital syphilis increased over time (annual percent change 24.6%, 95% CI, 13.0-37.3). Newborn race and ethnicity, insurance, household income, year of admission, and hospital characteristics were associated with congenital syphilis. In multivariable models, congenital syphilis was associated with preterm birth before 37 weeks of gestation (adjusted RR 2.22, 95% CI, 2.02-2.44) and preterm birth before 34 weeks of gestation (adjusted RR 2.39, 95% CI, 2.01-2.84); however, there was no association with low birth weight or neonatal in-hospital death. Compared with newborns without congenital syphilis, hospital length of stay (adjusted mean ratio 3.53, 95% CI, 3.38-3.68) and hospital costs (adjusted mean ratio 4.93, 95% CI, 4.57-5.32) were higher among those with congenital syphilis. CONCLUSION: Among newborn hospitalizations in the United States, the rate of congenital syphilis increased from 2016 to 2020. Congenital syphilis was associated with preterm birth, longer hospital length of stay, and higher hospital costs.

Lymphovenous Anastomosis for the External and Internal Types of Head and Neck Lymphedema: A Case Series and Preliminary Clinical Results.

Background: Head and neck lymphedema (HNL), including external and internal types, could be a possible consequence for patients who have received neck dissection and radiotherapy for head and neck cancer. Initially, the common presentations are heaviness or tightness, followed by swelling in appearance, or difficulty speaking and swallowing in internal edema cases. Lymphovenous anastomosis (LVA) is an established approach to treat extremity lymphedema. We hereby present our preliminary experience in using LVA to treat HNL. Methods: Between March 2021 and January 2024, six patients with HNL were treated with LVA via a preauricular or submandibular incision of the obstructed side. Lymphedema Symptom Intensity and Distress Surveys-Head and Neck (LSIDS-H&N) were used for evaluation. In addition, for the external type, MD Anderson Cancer Center Head and Neck Lymphedema (MDACC HNL) rating scale was used for evaluation. For the internal type, Swallowing Quality of Life was used for evaluation. Results: With an average follow-up period of 15.4 ±â€…15.9 months, LSIDS-H&N improved from 1.11 ±â€…0.54 to 0.44 ±â€…0.66 (P = 0.02). For patients with the external type, within an average follow-up period of 15 ±â€…16.1 months, the MDACC HNL rating scale improved from level 2 to 0 or 1a (P = 0.008). For patients with the internal type, within an average follow-up period of 21 ±â€…17.3 months, Swallowing Quality of Life improved from 130.5 ±â€…9.2 to 151 ±â€…19.8 (P = 0.5). Conclusions: Based on our preliminary results, LVA could be a potential solution to both external and internal HNL.