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Racial and ethnic minorities bear a disproportionate burden of type 2 diabetes (T2D) and its complications, with social determinants of health (SDoH) recognized as key drivers of these disparities. Implementing efficient and effective social needs management strategies is crucial. We propose a machine learning analytic pipeline to calculate the individualized polysocial risk score (iPsRS), which can identify T2D patients at high social risk for hospitalization, incorporating explainable AI techniques and algorithmic fairness optimization. We use electronic health records (EHR) data from T2D patients in the University of Florida Health Integrated Data Repository, incorporating both contextual SDoH (e.g., neighborhood deprivation) and person-level SDoH (e.g., housing instability). After fairness optimization across racial and ethnic groups, the iPsRS achieved a C statistic of 0.71 in predicting 1-year hospitalization. Our iPsRS can fairly and accurately screen patients with T2D who are at increased social risk for hospitalization. Racial and ethnic minorities bear a disproportionate burden of type 2 diabetes (T2D) and its complications, with social determinants of health (SDoH) recognized as key drivers of these disparities. Here, the authors developed an individualized polysocial risk score (iPsRS) to screen for unmet social needs essential to hospitalization risk in patients with Type 2 Diabetes, incorporating fairness optimization and explainable AI. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of the study reported in this paper was to explore the role of animals in buffering against cisgenderist violence experienced by trans young people. Method: Interviews were conducted with 17 Australian trans young people and one of their parents who spoke with us about their relationships with their animals living in the home, including in terms of animals providing a protective function against the negative effects of cisgenderism. The transcribed interviews were analyzed thematically. Results: Thematic analysis resulted in the development of three themes. First, at the psychological level, animals helped young people to combat feelings of dysphoria, wrought by the violent effects of social norms about gender. Second, at the interpersonal level, animals helped to soothe young people when they were faced with less than supportive or indeed hostile responses from family members and other people in their lives. Third, at the community level, the companionship provided by animals offered a buffer against feelings of marginalization premised on cisgenderist social norms. Conclusions: All three themes speak to the importance of conceptualizing violence in family contexts as more than just the obvious: as encompassing more subtle forms of marginalization that in their net effect may constitute forms of violence or microaggressions. As a counter to these subtle forms of violence, animals are thus perceived as playing an important role as confidantes, as offering a place of non-judgemental safety, and as a touchstone to the more-than-human. [ABSTRACT FROM AUTHOR]

The primary clinical indicator of fracture risk among the elderly is low bone mass, yet it accounts for less than half of fractures in individuals over 50 years. Age is recognized to influence bone quality, affecting bone structure and properties. Previous research indicates that age diminishes tissue plasticity and toughness conferred by collagen, suggesting that age-related changes in the collagen environment may contribute to bone fragility. This study explores the relationship between age-related collagen impairment, specifically the accumulation of non-enzymatic collagen cross-linking and molecular collagen denaturation, and bone toughness in middle-aged and older patients (postmenopausal 50–70 years old and senile osteoporosis age > 70 years old). Additionally, it examines the influence of blood glucose and HbA1c levels, as well as body mass index (BMI), on these factors. Despite not finding any differences in fracture toughness between groups, we found a significant correlation between hemoglobin A1c and collagen integrity (collagen denaturation and non-enzymatic cross-linking). [ABSTRACT FROM AUTHOR]

Teachers turn to many sources for support and professional learning, including social media-based communities that have shown promise to help teachers access resources and facilitate productive exchanges. Although such online communities show promise, questions about their quality for providing a suitable learning environment remain insufficiently answered. In this study, we examine how teachers' engagement on Twitter (now known as "X") may adhere to characteristics of high-quality professional development (PD) activities. In that, we employ advanced conversational analysis techniques that extend the primarily descriptive methods used in prior research. Specifically, we collected data from three Twitter communities related to Advanced Placement Biology (N = 2,040 tweets, N = 93 teachers). Qualitative two-cycle content analyses derived both tweet content and sentiment. Using epistemic network analyses, we examined the collaborative structures to examine how participation patterns can identify characteristics of high-quality online PD. Results indicate that some teachers use Twitter with a content focus and coherent to their individual contexts and prior knowledge. Notably, differences in collaboration and participation patterns by teachers' overall activity level hint at the existence of an online community of practice. More active teachers communicated more about how their individual contexts relate to instruction, whereas less active teachers exhibited more targeted engagement, for instance, related to sharing teaching resources and organizing learning opportunities. Overall, this study illustrates how Twitter may provide a meaningful learning environment to teachers so that it can serve as a relevant avenue for their professional learning. [ABSTRACT FROM AUTHOR]

In the United States, immigrant Latino men who have sex with men (ILMSM) are, compared to white MSM, disproportionately burdened by HIV and lack access to highly effective HIV prevention strategies, such as pre-exposure prophylaxis (PrEP). Qualitative research centered on exploring barriers that ILMSM experience in accessing PrEP and other sexual services is extremely limited, despite a high prevalence of HIV in this population. In this study, a purposive sample of ILMSM (n = 25) was recruited to participate in a semi-structured in-depth interview to identify the distinct barriers and facilitators ILMSM experience in accessing sexual health services given their complex intersectional identities of being an immigrant, Latino, and a sexual minority man. Using a thematic analysis approach, nine themes were generated from the data representing barriers and facilitators. Barriers included: (1) cost and a lack of health insurance, (2) complexity of PrEP assistance programs; (3) challenges related to the immigrant experience; (4) impact of gay stigma; and (5) communication challenges. Facilitators included: (1) improving affordability and accessibility of PrEP services; (2) receiving services from LGBT- or Latine LGBT-centered clinics; (3) receiving services from medical providers who are gay and/or Latino; and (4) providing targeted community outreach, education, and promotion of PrEP to ILMSM. While many of the barriers illuminated in the study were structural (e.g., cost and lack of health insurance), and not easy to overcome, the findings highlight a range of facilitators that can support access to PrEP and other sexual health services for ILMSM. Considering these findings, we suggest strategies that may enhance access to needed sexual health services among ILMSM. [ABSTRACT FROM AUTHOR]

Purpose: We evaluated the incidence, timing, and risk factors for second primary non-breast cancers (SPNBC) among young breast cancer (BC) survivors. Methods: This study included participants of the Young Women's BC Study (YWS) who were diagnosed with stage 0-III BC between 2006 and 2016 and age 40 or younger at diagnosis (N = 1,230). Patient characteristics, treatment information, and clinical events were collected via serial surveys. Tumor and treatment data were obtained from medical record review. Five- and 10-year risks of SPNBCs were estimated via the cumulative incidence function, considering death, metastasis, or second primary BC as competing events. Fine and Gray subdistribution hazard models estimated subdistribution hazard ratios (sHRs) and 95% confidence intervals (CI) for SPNBC risk based on risk factors including demographics, germline genetics, primary BC characteristics, and treatments. Results: Among 1,230 women, over a median follow-up of 10.1 years, 47 patients (4%) developed an SPNBC. Types of malignancy included melanoma (n = 10), thyroid (n = 10), ovarian (n = 4), sarcoma (n = 4), uterine (n = 3), rectal (n = 3), bladder (n = 2), cervical (n = 2), head/neck (n = 2), lung (n = 2), lymphoma (n = 2), pancreatic (n = 2), and renal (n = 1). Five and 10-year cumulative incidence were 1.4% and 3.2%, respectively. Median time between primary BC and SPNBC was 7.3 years. No patient factors, primary tumor characteristics, or treatments were statistically significantly associated with SPNBC in univariable or multivariable models. Conclusion: In this population, five-year cumulative incidence was higher than that reported among healthy women under 50 years of age, highlighting the importance of long-term surveillance for new non-breast cancers in young adult BC survivors. [ABSTRACT FROM AUTHOR]

Intratumoral heterogeneity is an important clinical challenge because low burden clones expressing specific genetic alterations drive therapeutic resistance mechanisms. We have developed CAVE (cancer-associated variant enrichment), a gene-agnostic computational tool to identify specific enrichment of low-burden cancer driver variants in next-generation sequencing (NGS) data. For this study, CAVE was applied to TP53 in chronic lymphocytic leukemia (CLL) as a cancer model. Indeed, as TP53 mutations are part of treatment decision-making algorithms and low-burden variants are frequent, there is a need to distinguish true variants from background noise. Recommendations have been published for reliable calling of low-VAF variants of TP53 in CLL and the assessment of the background noise for each platform is essential for the quality of the testing. CAVE is able to detect specific enrichment of low-burden variants starting at variant allele frequencies (VAFs) as low as 0.3%. In silico TP53 dependent and independent analyses confirmed the true driver nature of all these variants. Orthogonal validation using either ddPCR or NGS analyses of follow-up samples confirmed variant identification. CAVE can be easily deployed in any cancer-related NGS workflow to detect the enrichment of low-burden variants of clinical interest. [ABSTRACT FROM AUTHOR]

Quality improvements and reduction of disease risk for low-resource shared sanitation facilities require cleanliness assessment approaches that are both rigorous and practical. Using Adenosine Triphosphate (ATP) bioluminescence testing, we assessed contamination on high-touch (HT) surfaces (inner door handles) at 32 shared toilet sites in Kisumu, Kenya. In public toilets, contamination was lowest after cleaning and disinfection (C&D) with 0.5% chlorine solution (adjusted difference in mean log10 Relative Light Units per 100 cm2 (aDiff): −1.61; CI: −2.43, −0.59), followed by C&D with 0.1% chlorine solution (aDiff: −1.16; CI: −1.77, −0.55). ATP levels were not associated with overall observable toilet cleanliness and had poor agreement with visually assessed HT surface cleanliness. Our findings demonstrate the utility of this field-feasible method for detecting the impact of recent C&D in low-resource shared toilets, a novel setting for ATP cleanliness testing, while also highlighting the importance of using effective C&D procedures and addressing HT surfaces within cleaning protocols. [ABSTRACT FROM AUTHOR]

Data storage in DNA has recently emerged as a promising archival solution, offering space-efficient and long-lasting digital storage solutions. Recent studies suggest leveraging the inherent redundancy of synthesis and sequencing technologies by using composite DNA alphabets. A major challenge of this approach involves the noisy inference process, obstructing large composite alphabets. This paper introduces a novel approach for DNA-based data storage, offering, in some implementations, a 6.5-fold increase in logical density over standard DNA-based storage systems, with near-zero reconstruction error. Combinatorial DNA encoding uses a set of clearly distinguishable DNA shortmers to construct large combinatorial alphabets, where each letter consists of a subset of shortmers. We formally define various combinatorial encoding schemes and investigate their theoretical properties. These include information density and reconstruction probabilities, as well as required synthesis and sequencing multiplicities. We then propose an end-to-end design for a combinatorial DNA-based data storage system, including encoding schemes, two-dimensional (2D) error correction codes, and reconstruction algorithms, under different error regimes. We performed simulations and show, for example, that the use of 2D Reed-Solomon error correction has significantly improved reconstruction rates. We validated our approach by constructing two combinatorial sequences using Gibson assembly, imitating a 4-cycle combinatorial synthesis process. We confirmed the successful reconstruction, and established the robustness of our approach for different error types. Subsampling experiments supported the important role of sampling rate and its effect on the overall performance. Our work demonstrates the potential of combinatorial shortmer encoding for DNA-based data storage and describes some theoretical research questions and technical challenges. Combining combinatorial principles with error-correcting strategies, and investing in the development of DNA synthesis technologies that efficiently support combinatorial synthesis, can pave the way to efficient, error-resilient DNA-based storage solutions. [ABSTRACT FROM AUTHOR]

Despite the remarkable health achievements of Japan's universal health coverage since 1961, along with numerous social programs to ensure financial protection, a growing proportion of the older population reportedly experiences financial hardship for essential health care. The socio-behavioral and economic situation of the households in need and the effective policy interventions remain unknown. To identify the reasons behind older persons' financial hardship and the effective policy interventions, we performed a questionnaire survey of social workers in all hospitals, local government offices and social service agencies across six prefectures in Kansai region. Data from 553 respondents revealed that the financial difficulties related to health care are often closely intertwined with social and mental health hardships experienced by older people and their families. Notably, potentially helpful programs including 'free/low-cost medical treatment program' and the adult guardianship system for dementia were infrequently used. Moreover, male, social workers at local offices/agencies, and less than 10 years' professional experience associated with infrequent use of key protective programs. To close the gap between policy and practice, policies should focus on clients' daily living needs, and new frontline social workers should receive lifelong training that incorporates their own backgrounds, experiences, and values, including the use of anti-oppressive gerontological approaches. [ABSTRACT FROM AUTHOR]

Purpose of Review: Spinal cord injury (SCI) is a major cause of morbidity and mortality, posing a significant financial burden on patients and the healthcare system. While little can be done to reverse the primary mechanical insult, minimizing secondary injury due to ischemia and inflammation and avoiding complications that adversely affect neurologic outcome represent major goals of management. This article reviews important considerations in the acute critical care management of SCI to improve outcomes. Recent Findings: Neuroprotective agents, such as riluzole, may allow for improved neurologic recovery but require further investigation at this time. Various forms of neuromodulation, such as transcranial magnetic stimulation, are currently under investigation. Summary: Early decompression and stabilization of SCI is recommended within 24 h of injury when indicated. Spinal cord perfusion may be optimized with a mean arterial pressure goal from a lower limit of 75-80 to an upper limit of 90-95 mmHg for 3-7 days after injury. The use of corticosteroids remains controversial; however, initiation of a 24-h infusion of methylprednisolone 5.4 mg/kg/hour within 8 h of injury has been found to improve motor scores. Attentive pulmonary and urologic care along with early mobilization can reduce in-hospital complications. [ABSTRACT FROM AUTHOR]

Introduction: From a surgeon's perspective, appendicitis is treated with appendectomy and sometimes a normal appendix is removed. This study aimed to investigate the patients' perspectives on having surgery but not appendicitis and their involvement in treatment decisions. Methods: This study is reported according to the COnsolidated criteria for REporting Qualitative research (COREQ) guideline. Eligible participants either had a normal diagnostic laparoscopy with no resection of the appendix or a negative appendectomy confirmed by histopathology. Interviews were conducted using a semi-structured interview guide and transcribed verbatim. Data were analyzed using content analysis. Results: This study consisted of 15 interviews. Analysis of the interviews resulted in the formulation of four categories: (1) discovering the results of the histopathology report, (2) thoughts on having a normal appendix removed or left in situ, (3) the scarce use of shared decision-making, and (4) general anesthesia and the risk of a burst appendix made the participants nervous. Conclusion: The amount of information communicated to the patients before and after surgery was sparse. The participants were not aware of the histopathology results and the participants were not involved in decision-making and were generally anxious about anesthesia and a burst appendix. [ABSTRACT FROM AUTHOR]

Understanding individuals' distinct movement patterns is crucial for health, rehabilitation, and sports. Recently, we developed a machine learning-based framework to show that "gait signatures" describing the neuromechanical dynamics governing able-bodied and post-stroke gait kinematics remain individual-specific across speeds. However, we only evaluated gait signatures within a limited speed range and number of participants, using only sagittal plane (i.e., 2D) joint angles. Here we characterized changes in gait signatures across a wide range of speeds, from very slow (0.3 m/s) to exceptionally fast (above the walk-to-run transition speed) in 17 able-bodied young adults. We further assessed whether 3D kinematic and/or kinetic (ground reaction forces, joint moments, and powers) data would improve the discrimination of gait signatures. Our study showed that gait signatures remained individual-specific across walking speeds: Notably, 3D kinematic signatures achieved exceptional accuracy (99.8%, confidence interval (CI) 99.1–100%) in classifying individuals, surpassing both 2D kinematics and 3D kinetics. Moreover, participants exhibited consistent, predictable linear changes in their gait signatures across the entire speed range. These changes were associated with participants' preferred walking speeds, balance ability, cadence, and step length. These findings support gait signatures as a tool to characterize individual differences in gait and predict speed-induced changes in gait dynamics. [ABSTRACT FROM AUTHOR]

Background: Racism negatively affects clinical outcomes in Black patients, but uncertainty remains among physicians regarding how to address interpersonal anti-Black racism incidences involving them to facilitate racial healing and promote accountability. Objective: Elicit physician perspectives on addressing concerns from Black patients about interpersonal racism involving them or their team. Participants: Twenty-one physician subspecialists at an urban academic medical center. Approach: We conducted one-on-one semi-structured interviews to help inform the development of a clinician-facing component of a program to address the distress of racism experienced by Black patients with serious illness. We asked clinicians to describe experiences discussing racism with patients and identify additional resources to support these conversations. Main Measures: Physician perspectives, including barriers and facilitators, to promote racial healing and clinician accountability when discussing clinician-perpetuated interpersonal racism with Black patients. Key Results: Of the 21 participating physicians, 67% were women with a mean age of 44.2 years and mean of 10.8 years of experience as an attending physician. Four identified as Asian, three identified as Black, and 14 identified as White. Participants largely felt unprepared to discuss racism with their patients, especially if the harm was caused by them or their team. Participants felt patients should be given tools to discuss concerns about racism with their clinicians, but worried about adding additional burdens to Black patients to call out racism. Participants believed programs and processes with both patient- and clinicians-facing components had the potential to empower patients while providing resources and tools for clinicians to engage in these highly sensitive discussions without perpetuating more harm. Conclusions: Addressing and improving communication about interpersonal racism in clinical settings are challenging. Dual-facing programs involving patients and clinicians may help provide additional resources to address experiences of interpersonal racism and hold clinicians accountable. [ABSTRACT FROM AUTHOR]

Purpose: Patients from diverse racial, ethnic, and socio-economic backgrounds may be particularly vulnerable to experiencing undue social and financial burdens ("collateral damage") from a metastatic breast cancer (mBC) diagnosis; however, these challenges have not been well explored in diverse populations. Methods: From May 2022 to May 2023, English- or Spanish-speaking adults with mBC treated at four New York-Presbyterian (NYP) sites were invited to complete a survey that assessed collateral damage, social determinants of health, physical and psychosocial well-being, and patient-provider communication. Fisher's exact and the Kruskal–Wallis rank-sum tests assessed differences by race and ethnicity. Results: Of 87 respondents, 14% identified as Hispanic, 28% non-Hispanic Black (NHB), 41% non-Hispanic White (NHW), 7% Asian American Pacific Islander (AAPI), and 10% other/multiracial. While 100% of Hispanic, NHW, and AAPI participants reported stable housing, 29% of NHB participants were worried about losing housing (p = 0.002). Forty-two percent of Hispanic and 46% of NHB participants (vs. 8%, NHW and 0%, AAPI, p = 0.005) were food insecure; 18% of Hispanic and 17% of NHB adults indicated lack of reliable transportation in the last year (vs. 0%, NHW/AAPI, p = 0.033). Participants were generally satisfied with the quality of communication that they had with their healthcare providers and overall physical and mental well-being were modestly poorer relative to healthy population norms. Conclusions: In our study, NHB and Hispanic mBC patients reported higher levels of financial concern and were more likely to experience food and transportation insecurity compared to NHW patients. Systematically connecting patients with resources to address unmet needs should be prioritized to identify feasible approaches to support economically vulnerable patients following an mBC diagnosis. [ABSTRACT FROM AUTHOR]

Background: The DV-QoL is a 17-item questionnaire measuring health-related quality of life in patients affected by symptomatic diverticular disease, covering four domains: physical symptoms, concerns, feelings, and behavioral changes. Given the lack of a diverticulitis-specific questionnaire to be used for German-speaking patients, we prospectively validated the German version of the DV-QoL. Methods: German-speaking patients with CT-confirmed history of recurrent diverticular disease admitted to a Swiss surgical department completed the German version of the DV-QoL, along with short form-36 (SF-36) and the Gastrointestinal Quality of Life Index (GIQLI). Reliability was examined using exploratory and confirmatory factor analysis, a Martin-Loef test, and Cronbach's alpha. For convergent validity testing, correlations were calculated with the GIQLI and SF-36. Discriminant validity tests included age and gender. Results: We included 121 patients, of whom 77 were admissions for elective surgery and 44 presented with acute diverticulitis treated conservatively. The DV-QoL's total score showed good correlations with the GIQLI (r = − 0.77) and its subscales (r = − 0.76 to − 0.45), as well as with the SF-36's subscales (r = − 0.30 to − 0.57). No relationships were found with age or gender (p < 0.05). The Cronbach's alpha coefficient was 0.89 over all items and 0.69, 0.90, 0.78, and 0.77 for the four separated domains (physical symptoms, cognitions/concerns, feelings, and behavioral changes, respectively). A nonsignificant Martin-Loef test indicated unidimensionality (p = 1), further supported by the exploratory factor analysis, which showed an item information sharing of 65%. Conclusion: The German DV-QoL questionnaire can be used as a valid and reliable disease-specific measure for quality of life in patients with recurrent diverticular disease. [ABSTRACT FROM AUTHOR]

With ascent to high altitude (HA), compensatory increases in cerebral blood flow and oxygen delivery must occur to preserve cerebral metabolism and consciousness. We hypothesized that this compensation in cerebral blood flow and oxygen delivery preserves tolerance to simulated hemorrhage (via lower body negative pressure, LBNP), such that tolerance is similar during sustained exposure to HA vs. low altitude (LA). Healthy humans (4F/4 M) participated in LBNP protocols to presyncope at LA (1130 m) and 5–7 days following ascent to HA (3800 m). Internal carotid artery (ICA) blood flow, cerebral delivery of oxygen (CDO2) through the ICA, and cerebral tissue oxygen saturation (ScO2) were determined. LBNP tolerance was similar between conditions (LA: 1276 ± 304 s vs. HA: 1208 ± 306 s; P = 0.58). Overall, ICA blood flow and CDO2 were elevated at HA vs. LA (P ≤ 0.01) and decreased with LBNP under both conditions (P < 0.0001), but there was no effect of altitude on ScO2 responses (P = 0.59). Thus, sustained exposure to hypobaric hypoxia did not negatively impact tolerance to simulated hemorrhage. These data demonstrate the robustness of compensatory physiological mechanisms that preserve human cerebral blood flow and oxygen delivery during sustained hypoxia, ensuring cerebral tissue metabolism and neuronal function is maintained. [ABSTRACT FROM AUTHOR]

Background: While the variety of biologics (b) and targeted synthetic (ts) disease-modifying anti-rheumatic drugs (DMARDs) available for patients with psoriatic arthritis (PsA) has proved to be efficacious in randomized clinical trials, there is a growing importance to understand the benefits and potential drawbacks of these different therapies in real-world settings, which includes bio-experienced and older patients as well. Objective: To evaluate the real-world adherence, drug survival, and discontinuation risk of bDMARDs and tsDMARDs among patients with PsA, comprising both younger and older patients. Methods: A retrospective study using a computerized database. Treatment-naïve and treatment-experiencedpatients with PsA, younger and older than 60 years, who initiated treatment with bDMARDs [TNF-α inhibitors (TNF-αis), IL-17 inhibitors (IL-17is), IL-12/23 inhibitors (IL-12/23i)] or tsDMARDs (the PDE-4 inhibitor apremilast) during 2015–2018 were included. Adherence was assessed using the proportion of days covered (PDC) method. Time to discontinuation was analyzed using Kaplan–Meier estimates. Risk of discontinuation was estimated by Cox proportional hazard model. Results: We identified 427 eligible patients (22.2 % were older than 60 years), utilizing 673 treatment lines. The proportion of adherent patients (PDC ≥ 0.8) was similar (62.1–66.5%) across all lines of therapy and across different biologics (70.0–72.0%), while apremilast showed the lowest, in both treatment-naïve and experienced settings (43.6% and 25.5%, respectively). The Kaplan–Meier analysis showed that in the treatment-naïve TNF-αis had higher drug survival compared with apremilast (P = 0.032). Apremilast also had the lowest drug survival in the treatment-experienced group (P < 0.0001). Kaplan–Meier analysis by age groups showed similar drug survival rates in older (≥ 60 years) and younger (age < 60 years) patients, regardless of treatment-experience status. The multivariable model showed that apremilast had increased risk for discontinuation compared with TNF-αis. Conclusion: Adherence, drug survival and risk for discontinuation were similar for all included bDMARDs, regardless of treatment experience status, while apremilast showed lower rates and increased risk. Adherence and discontinuation rate were similar in older and younger patients. With the variety of drug modes of action available for patients with PsA, these findings may assist caregivers in selecting the appropriate treatment. [ABSTRACT FROM AUTHOR]

This correction notice updates an article on the implications of oxybate dosing for sleep in patients with narcolepsy. The corrections involve changes to authorship and affiliation, as well as adjustments to values in Table 2 and the text. However, the corrections do not impact the article's conclusions. The document provides a table summarizing the effects of sodium oxybate on sleep parameters in narcolepsy patients, including total sleep time, awakenings, sleep stage shifts, and sleep quality. The results indicate that sodium oxybate generally reduces awakenings, sleep stage shifts, and improves sleep quality, although the effects vary depending on dosage and formulation. The document also includes information on statistical significance and baseline scores for some measures. [Extracted from the article]

Overall, 34 local floras of vascular plants were analyzed at testing sites in the Middle Volga region with an area of 400 km2. Noticeable differences were revealed in the nature of correlations between the number of species of adventitious and native flora fractions and environmental factors: climate and relief. In the region, the number of native species is negatively related to air temperature, evaporation rates, and water deficit, while adventive species show a positive relationship with these characteristics. Adventive species are more often found in gently sloping lowlands in polygons characterized by increased elevation differences and drainage area. In general, adventitious species are more associated with semi-arid conditions in sites with relatively high ranges of environmental factors and standard deviation. Multiple regression showed that adventive species are more closely related to environmental factors than native species. In the region, adventive species are distributed predominantly in places (ecotopes) with increased environmental heterogeneity. An analysis of the relationships with environmental factors of the studied fractions may indicate that their distribution on the test sites is consistent, as a result of which they do not show opposition, which is also confirmed by the weak positive relationship between the richness of their species. [ABSTRACT FROM AUTHOR]

Background: Chronic pain remains prevalent after open inguinal hernia repair and nerve-handling strategies are debated. Some guidelines suggest sparing nerves that are encountered; however, the nerve identification rates are unclear. This study aimed to investigate the nerve identification rates in a register-based nationwide cohort. Methods: This study was reported according to the RECORD guideline and used prospective, routinely collected data from the Danish Hernia Database, which was linked with the National Patient Registry. We included patients ≥ 18 years old, undergoing Lichtenstein hernia repair with information on nerve handling of the iliohypogastric and ilioinguinal nerves. Results: We included 30,911 open hernia repairs performed between 2012 and 2022. The ilioinguinal nerve was identified in 73% of the repairs and the iliohypogastric nerve in 66% of repairs. Both nerves were spared in more than 94% of cases where they were identified. Female patient sex, emergency and recurrence surgery, general anesthesia, medial and saddle hernias, and large defect size all result in lower nerve identification rates for both nerves. Conclusion: The Ilioinguinal nerve was recognized in 73% of cases, while the iliohypogastric nerve was recognized in 66% with almost all identified nerves being spared during surgery. Several pre- and intraoperative factors influenced identification rates of the ilioinguinal and iliohypogastric nerve. [ABSTRACT FROM AUTHOR]

Early Age Robotics (EAR) education has become extremely popular throughout the world. It has proven to be not only interesting and enjoyable, but also effective at helping even the youngest of children (aged 4–7) develop skills and reap educational benefits. But what about their families? Are parents as happy with EAR programs as are the children? What are their attitudes and beliefs regarding it? In this novel empirical study, we seek to answer these questions and succeed in refuting some commonly held beliefs. This study is based on a unique EAR program running since 2016 for over 2000 children. Using qualitative and quantitative research methods, we analyzed interviews with 29 parents and surveys submitted to 203 parents whose children (aged 4–7) studied technology and robotics as a compulsory component of their curriculum. We uncovered an interesting phenomenon of parents becoming transformed from being passive consumers of the educational system into new, twenty-first-century parents, more confident about their ability to learn and to help promote their children's abilities. They are more motivated and involved, and ready to invest in both their own and their children's learning. Also encouraging is the gender equality found in this technological area. We recommend introducing a new PEAR (Parents in EAR) model, offering practical proposals for enhancing and expanding robotics education. The study confirms parents' satisfaction with technology, their willingness to learn more about robotics, and their satisfaction with their children's participation in an EAR program. This transformation should be considered by EAR stakeholders. [ABSTRACT FROM AUTHOR]

Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations in brain development and functioning. Given the extensive genetic heterogeneity of microcephaly, managing patients is hindered by the broad spectrum of diagnostic possibilities that exist before conducting molecular testing. We investigated the genetic basis of syndromic microcephaly accompanied by NDD in a Brazilian cohort of 45 individuals and characterized associated clinical features, as well as evaluated the effectiveness of whole-exome sequencing (WES) as a diagnostic tool for this condition. Patients previously negative for pathogenic copy number variants underwent WES, which was performed using a trio approach for isolated index cases (n = 31), only the index in isolated cases with parental consanguinity (n = 8) or affected siblings in familial cases (n = 3). Pathogenic/likely pathogenic variants were identified in 19 families (18 genes) with a diagnostic yield of approximately 45%. Nearly 86% of the individuals had global developmental delay/intellectual disability and 51% presented with behavioral disturbances. Additional frequent clinical features included facial dysmorphisms (80%), brain malformations (67%), musculoskeletal (71%) or cardiovascular (47%) defects, and short stature (54%). Our findings unraveled the underlying genetic basis of microcephaly in half of the patients, demonstrating a high diagnostic yield of WES for microcephaly and reinforcing its genetic heterogeneity. We expanded the phenotypic spectrum associated with the condition and identified a potentially novel gene (CCDC17) for congenital microcephaly. [ABSTRACT FROM AUTHOR]

Background: Many women eligible for breast conservation therapy (BCT) elect unilateral mastectomy (UM) with or without contralateral prophylactic mastectomy (CPM) and cite a desire for "peace of mind." This study aimed to characterize how peace of mind is defined and measured and how it relates to surgical choice. Methods: Nine databases were searched for relevant articles through 8 October 2023, and data were extracted from articles meeting the inclusion criteria. Results: The inclusion criteria were met by 20 studies. Most were prospective cohort studies (65%, 13/20). In the majority of the studies (72%, 13/18), Non-Hispanic white/Caucasian women comprised 80 % or more of the study's sample. Almost half of the studies used the phrase "peace of mind" in their publication (45%, 9/20), and few directly defined the construct (15%, 3/20). Instead, words representing an absence of peace of mind were common, specifically, "anxiety" (85%, 17/20), "fear" (75%, 15/20), and "concern" (75%, 15/20). Most of the studies (90%, 18/20) measured peace of mind indirectly using questionnaires validated for anxiety, fear, worry, distress, or concern, which were administered at multiple postoperative time points (55%, 11/20). Most of the studies (95%, 18/19) reported at least one statistically significant result showing no difference in peace of mind between BCT, UM, and/or CPM at their latest time of assessment. Conclusion: Peace of mind is largely framed around concepts that suggest its absence, namely, anxiety, fear, and concern. Existing literature suggests that peace of mind does not differ among average-risk women undergoing BCT, UM, or CPM. Shared surgical decisions should emphasize at least comparable emotional and/or psychosocial well-being between CPM and breast conservation. [ABSTRACT FROM AUTHOR]

This study investigated the prevalence, and the developmental, behavior and emotional outcomes of 675 preschoolers with ASD with or without a history of regression, who participated in the Study to Explore Early Development (SEED). The SEED project is a cross-sectional case-control study that collected data between 2007 and 2011. Children's history of regression, adaptive skills, and behavior problems were assessed using the Autism Diagnostic Interview-Revised (ADI-R), the Vineland Adaptive Behavior Scales-Second Edition (Vineland-2), and the Child Behavior Checklist (CBCL), respectively; and children's developmental levels were assessed using the Mullen Scales of Learning (MSEL). Findings from this study indicated that 26% of children experienced social and language regression, and of those with regression, 76% had regained lost skills upon completion of the study. Compared to children without a history of regression, children with social regression demonstrated increased internalizing problems and decreased fine motor skills, and children with language regression demonstrated poorer language skills. Also, children with language and social regression displayed poorer adaptive communication skills than children without regression. Children who experienced regression in one area of development demonstrated better outcomes than those who experience regression in multiple areas. To conclude, children with regression are at risk for poorer outcomes during their preschool years. [ABSTRACT FROM AUTHOR]

Purpose: Kono-S anastomosis, an antimesenteric, functional, end-to-end handsewn anastomosis, was introduced in 2011. The aim of this meta-analysis is to evaluate the safety and effectivity of the Kono-S technique. Methods: A comprehensive search of MEDLINE (PubMed), Embase (Elsevier), Scopus (Elsevier), and Cochrane Central (Ovid) from inception to August 24th, 2023, was conducted. Studies reporting outcomes of adults with Crohn's disease undergoing ileocolic resection with subsequent Kono-S anastomosis were included. PRISMA and Cochrane guidelines were used to screen, extract and synthesize data. Primary outcomes assessed were endoscopic, surgical and clinical recurrence rates, as well as complication rates. Data were pooled using random-effects models, and heterogeneity was assessed with I² statistics. ROBINS-I and ROB2 tools were used for quality assessment. Results: 12 studies involving 820 patients met the eligibility criteria. A pooled mean follow-up time of 22.8 months (95% CI: 15.8, 29.9; I2 = 99.8%) was completed in 98.3% of patients. Pooled endoscopic recurrence was reported in 24.1% of patients (95% CI: 9.4, 49.3; I2 = 93.43%), pooled surgical recurrence in 3.9% of patients (95% CI: 2.2, 6.9; I2 = 25.97%), and pooled clinical recurrence in 26.8% of patients (95% CI: 14, 45.1; I2 = 84.87%). The pooled complication rate was 33.7%. The most common complications were infection (11.5%) and ileus (10.9%). Pooled anastomosis leakage rate was 2.9%. Conclusions: Despite limited and heterogenous data, patients undergoing Kono-S anastomosis had low rates of surgical recurrence and anastomotic leakage with moderate rates of endoscopic recurrence, clinical recurrence and complications rate. [ABSTRACT FROM AUTHOR]

Differential diagnosis is a crucial aspect of medical practice, as it guides clinicians to accurate diagnoses and effective treatment plans. Traditional resources, such as medical books and services like UpToDate, are constrained by manual curation, potentially missing out on novel or less common findings. This paper introduces and analyzes two novel methods to mine etiologies from scientific literature. The first method employs a traditional Natural Language Processing (NLP) approach based on syntactic patterns. By using a novel application of human-guided pattern bootstrapping patterns are derived quickly, and symptom etiologies are extracted with significant coverage. The second method utilizes generative models, specifically GPT-4, coupled with a fact verification pipeline, marking a pioneering application of generative techniques in etiology extraction. Analyzing this second method shows that while it is highly precise, it offers lesser coverage compared to the syntactic approach. Importantly, combining both methodologies yields synergistic outcomes, enhancing the depth and reliability of etiology mining. [ABSTRACT FROM AUTHOR]

Objective: This systematic review aims to elucidate the diagnostic capabilities of imaging techniques in identifying Non-Occlusive Hepatic Artery Hypoperfusion Syndrome (NOHAH) and to evaluate the efficacy and outcomes of splenic artery embolization (SAE), including the choice and placement of embolic agents. Materials and methods: A comprehensive literature search was conducted using PubMed, CINAHL, and Scopus databases, adhering to PRISMA guidelines. Fifteen studies encompassing 240 patients treated with embolization (using coils or Amplatzer Vascular Plugs (AVP)) were analyzed. Key metrics assessed included patient demographics, embolization techniques, embolic agents, technical success, radiologic findings pre- and post-embolization, and complication rates. Results: Among the 240 patients studied, 177 (73.8%) were reported by gender, with a majority being male (127/177, 71.7%). Doppler ultrasonography (DUS) emerged as the primary initial screening tool in 80% of studies. The hepatic arterial resistive index (RI) was a critical parameter, with mean values significantly decreasing from 0.84 pre-embolization to 0.70 post-embolization (p < 0.001). All cases confirmed technical success via digital subtraction angiography, revealing delayed hepatic arterial filling without stenosis or thrombosis. Coils were the predominant embolic agent, used in 80.8% of patients, followed by AVP in 16.3%. The overall mortality rate was 4.58%, with 29 major and 3 minor complications noted. Notably, proximal placement of coils in the splenic artery was associated with lower mortality rates compared to distal placement and showed comparable complication rates to AVPs. Conclusion: DUS is a reliable screening modality for NOHAH, with post-SAE assessments showing significant improvements. The choice and location of embolization significantly impact patient outcomes, with proximal placement of coils emerging as a preferable strategy due to lower mortality rates and comparable complication profiles to alternative methods. [ABSTRACT FROM AUTHOR]

Introduction: Vitiligo, a chronic autoimmune skin depigmentation disease with an unpredictable course, has been associated with several comorbid autoimmune and psychological conditions. Our current understanding of vitiligo burden and management in the real world is limited. This real-world analysis presents data on vitiligo epidemiology, comorbidities, and treatment of patients in Israel. Methods: This retrospective study analyzed data from the Maccabi Health Services database. Prevalent patients with vitiligo in 2021 were matched to patients in the general population on the basis of age group, gender, and socioeconomic status. Patient demographics, vitiligo incidence and prevalence, comorbidities, and treatment patterns are reported. Data are presented as percentages, mean, median, P values, and standard mean differences (SMD). Results: In this analysis, 11,412 patients with vitiligo were matched to patients from the general population. Incidence and prevalence rates increased over time from 2005 to 2021. Compared to the general population, patients with vitiligo were more likely to have an immune-mediated comorbidity (29.7% vs 18.4% [P < 0.001; SMD 0.27]) or psychological comorbidity (18.7% vs 15.9% [P < 0.001; SMD 0.07]). Comorbidities included atopic dermatitis (patients with vitiligo vs general population 12.5% vs 8.4%), psoriasis (5.8% vs 3.6%), Hashimoto's thyroiditis (2.9% vs 1.1%), alopecia areata (2.2% vs 0.9%), depression (10.8% vs 9.5%), and sleep disorder/insomnia (5.9% vs 4.4%). Only 74.8% of all patients with vitiligo had ever received treatment, with topical corticosteroids (51.5%) and calcineurin inhibitors (36.5%) most commonly prescribed. At the end of 2021, 83.7% of patients were untreated. Conclusion: Patients with vitiligo are more likely to have various immune-related and psychological comorbidities, highlighting the significant impact of the condition on well-being. Nearly a quarter of patients had never received treatment, with many receiving only topical treatments, and medication persistence was low. This highlights the lack of adequate treatment in this population and the need for more effective management options. [ABSTRACT FROM AUTHOR]

An ongoing global shortage of verteporfin (Visudyne®) limits the treatment possibilities for several chorioretinal diseases, including central serous chorioretinopathy, choroidal hemangioma, and polypoidal choroidal vasculopathy. Verteporfin is required to perform photodynamic therapy in these ocular diseases. Therefore, the current situation has a substantial impact on eye care worldwide. The worldwide supply of verteporfin appears to be manufactured by a single factory, which is situated in the United States. The distribution of verteporfin is done by different companies for different regions of the world. Official communication on the shortage by the responsible companies has been scarce and over the past years several promises with regards to resolution of the shortage have not been fulfilled. The delivery of new batches of verteporfin is at irregular intervals, unpredictable, and may not be fairly balanced between different regions or countries in the world. To ensure a fair distribution of available verteporfin within a country, several measures can be taken. In the Netherlands, a national committee, consisting of ophthalmologists, is in place to arrange this. On the European level, the European Union and European Medicine Agency have plans to monitor medicine shortages more closely and to intervene if necessary. With a more intensified monitoring and regulation of medicine supplies, future impending shortages may be prevented. Remarkably, the amount of medicine shortages is increasing, having a significant and sometimes irreversible impact on patient care. Thus, efforts should be undertaken to minimize the consequences and, whenever possible, to prevent future medicine shortages. [ABSTRACT FROM AUTHOR]

Background: Anastomotic leakage (AL), a severe complication following colorectal surgery, arises from defects at the anastomosis site. This study evaluates the feasibility of predicting AL using machine learning (ML) algorithms based on preoperative data. Methods: We retrospectively analyzed data including 21 predictors from patients undergoing colorectal surgery with bowel anastomosis at four Swiss hospitals. Several ML algorithms were applied for binary classification into AL or non-AL groups, utilizing a five-fold cross-validation strategy with a 90% training and 10% validation split. Additionally, a holdout test set from an external hospital was employed to assess the models' robustness in external validation. Results: Among 1244 patients, 112 (9.0%) suffered from AL. The Random Forest model showed an AUC-ROC of 0.78 (SD: ± 0.01) on the internal test set, which significantly decreased to 0.60 (SD: ± 0.05) on the external holdout test set comprising 198 patients, including 7 (3.5%) with AL. Conversely, the Logistic Regression model demonstrated more consistent AUC-ROC values of 0.69 (SD: ± 0.01) on the internal set and 0.61 (SD: ± 0.05) on the external set. Accuracy measures for Random Forest were 0.82 (SD: ± 0.04) internally and 0.87 (SD: ± 0.08) externally, while Logistic Regression achieved accuracies of 0.81 (SD: ± 0.10) and 0.88 (SD: ± 0.15). F1 Scores for Random Forest moved from 0.58 (SD: ± 0.03) internally to 0.51 (SD: ± 0.03) externally, with Logistic Regression maintaining more stable scores of 0.53 (SD: ± 0.04) and 0.51 (SD: ± 0.02). Conclusion: In this pilot study, we evaluated ML-based prediction models for AL post-colorectal surgery and identified ten patient-related risk factors associated with AL. Highlighting the need for multicenter data, external validation, and larger sample sizes, our findings emphasize the potential of ML in enhancing surgical outcomes and inform future development of a web-based application for broader clinical use. [ABSTRACT FROM AUTHOR]

Complex oxides offer rich magnetic and electronic behavior intimately tied to the composition and arrangement of cations within the structure. Rare earth iron garnet films exhibit an anisotropy along the growth direction which has long been theorized to originate from the ordering of different cations on the same crystallographic site. Here, we directly demonstrate the three-dimensional ordering of rare earth ions in pulsed laser deposited (EuxTm1-x)3Fe5O12 garnet thin films using both atomically-resolved elemental mapping to visualize cation ordering and X-ray diffraction to detect the resulting order superlattice reflection. We quantify the resulting ordering-induced 'magnetotaxial' anisotropy as a function of Eu:Tm ratio using transport measurements, showing an overwhelmingly dominant contribution from magnetotaxial anisotropy that reaches 30 kJ m−3 for garnets with x = 0.5. Control of cation ordering on inequivalent sites provides a strategy to control matter on the atomic level and to engineer the magnetic properties of complex oxides. Magnetic anisotropy in mixed rare earth iron garnet films is shown to originate from the atomic ordering of the rare earth cations during growth of the film. Cation ordering on inequivalent sites provides a powerful strategy to engineer the magnetic properties of complex oxides. [ABSTRACT FROM AUTHOR]

Purpose: Adolescent and young adults (AYAs) with metastatic breast cancer (MBC) experience high physical and psychosocial burdens compounded by a disrupted life trajectory. We sought to determine the psychosocial and supportive care concerns of this population to better understand and address unmet needs. Methods: AYAs diagnosed with MBC (18–39 years) participating in a prospective interventional study (Young, Empowered, and Strong) at Dana-Farber Cancer Institute completed an electronic survey following enrollment. Measures evaluated sociodemographics, health behaviors, quality of life, and symptoms, among others. We used two-sided Fisher’s exact tests to determine associations between concerns (e.g., cancer progression, side effects, lifestyle, finances, fertility) and demographic variables. Results: Among 77 participants enrolled from 9/2020–12/2022, average age at MBC diagnosis and survey was 35.9 (range: 22–39) and 38.3 years (range: 27–46), respectively. Most were non-Hispanic white (83.8%) and 40.3% reported their diagnosis caused some financial problems. Many were concerned about fertility (27.0%), long-term treatment side effects (67.6%), exercise (61.6%), and diet (54.1%). Select concerns varied significantly by age, race/ethnicity, and education. Younger women at survey reported greater concern about familial cancer risk (p = 0.028). Women from minority racial/ethnic groups more frequently reported issues talking about their cancer to family/friends (p = 0.040) while those with more education were more frequently concerned with long-term effects of cancer on their health (p = 0.021). Conclusion: Young women living with MBC frequently report psychosocial, health, and cancer management concerns. Tailoring supportive care and communications to address prevalent concerns including disease progression and treatment side effects may optimize wellbeing. [ABSTRACT FROM AUTHOR]

Machine learning algorithms (ML) are increasingly used to support decision-making in the exercise of public authority. Here, we argue that an important consideration has been overlooked in previous discussions: whether the use of ML undermines the democratic legitimacy of public institutions. From the perspective of democratic legitimacy, it is not enough that ML contributes to efficiency and accuracy in the exercise of public authority, which has so far been the focus in the scholarly literature engaging with these developments. According to one influential theory, exercises of administrative and judicial authority are democratically legitimate if and only if administrative and judicial decisions serve the ends of the democratic law maker, are based on reasons that align with these ends and are accessible to the public. These requirements are not satisfied by decisions determined through ML since such decisions are determined by statistical operations that are opaque in several respects. However, not all ML-based decision support systems pose the same risk, and we argue that a considered judgment on the democratic legitimacy of ML in exercises of public authority need take the complexity of the issue into account. This paper outlines considerations that help guide the assessment of whether a ML undermines democratic legitimacy when used to support public decisions. We argue that two main considerations are pertinent to such normative assessment. The first is the extent to which ML is practiced as intended and the extent to which it replaces decisions that were previously accessible and based on reasons. The second is that uses of ML in exercises of public authority should be embedded in an institutional infrastructure that secures reason giving and accessibility. [ABSTRACT FROM AUTHOR]

Purpose: Chronic kidney disease (CKD) is a risk factor for ischemic and bleeding events with dual antiplatelet therapy after percutaneous coronary intervention (PCI). Whether the presence of CYP2C19 loss of function (LOF) alleles modifies this risk, and whether a genotype-guided (GG) escalation of P2Y12 inhibitor therapy post PCI is safe in this population is unclear. Methods: This was a post hoc analysis of randomized patients in TAILOR PCI. Patients were divided into two groups based on estimated glomerular filtration rate (eGFR) threshold of < 60 ml/min/1.73 m2 for CKD (n = 539) and non-CKD (n = 4276). The aggregate of cardiovascular death, stroke, myocardial infarction, stent thrombosis, and severe recurrent coronary ischemia at 12-months post-PCI was assessed as the primary endpoint. Secondary endpoint was major or minor bleeding. Results: Mean (standard deviation) eGFR among patients with CKD was 49.5 (8.4) ml/min/1.72 m2. Among all patients, there was no significant interaction between randomized strategy and CKD status for any endpoint. Among LOF carriers, the interaction between randomized strategy and CKD status on composite ischemic outcome was not significant (p = 0.2). GG strategy was not associated with an increased risk of bleeding in either CKD group. Conclusions: In this exploratory analysis, escalation of P2Y12 inhibitor therapy following a GG strategy did not reduce the primary outcome in CKD. However, P2Y12 inhibitor escalation following a GG strategy was not associated with increased bleeding risk in CKD. Larger studies in CKD are needed. Clinical Trial Registration: https://clinicaltrials.gov/ct2/show/NCT01742117?term=TAILOR-PCI&draw=2&rank=1. NCT01742117. [ABSTRACT FROM AUTHOR]

Background: The objective of this study was to analyze the impact of a structured educational intervention on the implementation of guideline-recommended pain, agitation, and delirium (PAD) assessment. Methods: This was a prospective, multinational, interventional before-after trial conducted at 12 intensive care units from 10 centers in Germany, Austria, Switzerland, and the UK. Intensive care units underwent a 6-week structured educational program, comprising online lectures, instructional videos, educational handouts, and bedside teaching. Patient-level PAD assessment data were collected in three 1-day point-prevalence assessments before (T1), 6 weeks after (T2), and 1 year after (T3) the educational program. Results: A total of 430 patients were included. The rate of patients who received all three PAD assessments changed from 55% (107/195) at T1 to 53% (68/129) at T2, but increased to 73% (77/106) at T3 (p = 0.003). The delirium screening rate increased from 64% (124/195) at T1 to 65% (84/129) at T2 and 77% (82/106) at T3 (p = 0.041). The pain assessment rate increased from 87% (170/195) at T1 to 92% (119/129) at T2 and 98% (104/106) at T3 (p = 0.005). The rate of sedation assessment showed no signficiant change. The proportion of patients who received nonpharmacological delirium prevention measures increased from 58% (114/195) at T1 to 80% (103/129) at T2 and 91% (96/106) at T3 (p < 0.001). Multivariable regression revealed that at T3, patients were more likely to receive a delirium assessment (odds ratio [OR] 2.138, 95% confidence interval [CI] 1.206–3.790; p = 0.009), sedation assessment (OR 4.131, 95% CI 1.372–12.438; p = 0.012), or all three PAD assessments (OR 2.295, 95% CI 1.349–3.903; p = 0.002) compared with T1. Conclusions: In routine care, many patients were not assessed for PAD. Assessment rates increased significantly 1 year after the intervention. Clinical trial registration ClinicalTrials.gov: NCT03553719. [ABSTRACT FROM AUTHOR]

One of the most interesting nonlinear phenomena of mode coupling is internal resonances, which can promote directed energy transfer from one eigenmode to another, even at small amplitudes in free or forced oscillations. Internal resonances can be highly beneficial for many engineering applications. However, in most cases, internal resonances are encountered either accidentally or by proper tuning of different control parameters during experiments without prior planning. Therefore, the ability to a priori design a mechanical resonator with intentional internal resonance at given amplitudes holds great promise. Here, we show a simple methodological way to manipulate the eigenfrequencies and the coupling between the eigenmodes of a doubly clamped mechanical beam using a genetic algorithm for shape optimization of the initial curvature of the beam. We demonstrate that our methodology can be applied to both 1-to-2 and 1-to-3 internal resonances of micro-beams. Our results pave the way to a new class of design techniques for internal resonance enhancement based on shape optimization. [ABSTRACT FROM AUTHOR]

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Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis and pulmonary artery stenosis), by applying a combined genomic analysis. The analysis involved multiple techniques, including karyotype, chromosomal microarray analysis (CMA), FISH, genome sequencing (GS), RNA-seq, and optical genome mapping (OGM). A complex 9p24 SV was hinted at by CMA results, showing three interspersed duplicated segments. Combined GS and OGM analyses revealed that the 9p24 duplications constitute a complex SV, on which a set of breakpoints matches the boundaries of the CMA duplicated sequences. The proposed structure for this complex rearrangement implies three duplications associated with an inversion of ~ 2 Mb region on chromosome 9 and a SINE element insertion at the more distal breakpoint. Interestingly, this genomic structure of rearrangement forms a chimeric transcript of the KANK1/DMRT1 loci, which was confirmed by both RNA-seq and Sanger sequencing on blood samples from 9p24 rearrangement carriers. Altogether with breakpoint amplification and FISH analysis, this combined approach allowed a deep characterization of this complex rearrangement. Although the genotype–phenotype correlation remains elusive from the molecular mechanism point of view, this study identified a large genomic rearrangement at 9p24 segregating with a familial congenital heart defect, revealing a genetic biomarker that was successfully applied for embryo selection, changing the reproductive perspective of affected individuals. [ABSTRACT FROM AUTHOR]

We treat the linear heat equation in a periodic waveguide Π ⊂ R d , with a regular enough boundary, by using the Floquet transform methods. Applying the Floquet transform F to the equation yields a heat equation with mixed boundary conditions on the periodic cell ϖ of Π , and we analyse the connection between the solutions of the two problems. The considerations involve a description of the spectral projections onto subspaces H S ⊂ L 2 (Π) corresponding certain spectral components. We also show that the translated Wannier functions form an orthonormal basis in H S . [ABSTRACT FROM AUTHOR]

Copyright of Hydrogeology Journal is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)