bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disability education and implications for genetic counselor training
Authors: Douglas Lauren , Czerwinski Jennifer , Vukovic Rose , Ashfaq Myla , Lunstroth Rebecca , Wagner Chelsea 
Published: October 2023

AbstractThe genetic counseling (GC) community has faced criticism about the duality of promoting patient autonomy while also advocating for individuals with disabilities. This study assessed the attitudes of the disability community and GCs to identify content that should be included in GC disability education and evaluate the landscape of GC disability education. Members of the disability community and GCs completed an electronic survey distributed through electronic listservs and partnering organizations. A total of 672 responses were analyzed from both the disability community (n = 596) and the GC community (n = 76). Members of the disability community noted differences in GC comfort level discussing different aspects of disability with GCs being perceived as being very knowledgeable about medical aspects 71% of the time versus 49% of the time when discussing social/lifestyle aspects of disability. This discordance was reflected in GCs reported comfort level in discussing medical aspects (89%) and social aspects of disability (65%) during a session. Most GC respondents (71%) felt they received adequate knowledge during their disability education and variation was reported in the execution of disability education by training programs. Disability education content recommendations from the disability community and GCs included emphasizing four key aspects of disability: medical, social/lifestyle, lived experience, and the disability rights movement. Respondents of both cohorts stressed the inclusion of and exposure to persons with disabilities in disability education to understand the lived experience of persons with disabilities. The disability community identified additional disability education content to be included such as empathy training, family hardships, and mental health. The results of this study have practice implications and provide a foundation for training expectations to ensure future GCs possess the necessary skills to improve the quality of services provided to families and persons with disabilities.
Landscape of genetic counseling in the Philippines
Authors: Abad Peter James , Tumulak Ma‐Am Joy , Guerbo Romer , de Castro‐Hamoy Leniza , Bautista Niecy Grace , Nuique Ramonito , Jacalan Frances Isabelle , Talapian Gay Luz , Felipe‐Dimog Eva Belingon , Lagarde John Benedict , Plaga Starlene Joy , Jover Edbert Jasper , Morales Kristine Dawn , Canoy Graciel Mae , Laurino Mercy Y. 
Published: October 2023

AbstractIn this paper, we report on the professional development of genetic counselors in the Philippines as we discuss the status of genetic counseling training and research, along with the roles and scope of practice of genetic counselors. The development of a master's level training program for non‐physician genetic counselors in the Philippines initiated in 2011 was in response to the increasing demand for genetic counseling services. There are currently 18 locally trained genetic counselors who are practicing in various fields including newborn screening, pediatrics, cancer, prenatal and preconception, neurology, and research. Despite the success of the genetic counseling training program, various professional challenges hinder maximizing the impact of genetic counselors in the health system. The challenges discussed in this paper include the limited number of genetic counselors, the lack of government positions officially recognizing the ‘genetic counselor’ title, and the absence of a regulatory framework. These issues require thorough discussion with appropriate government agencies and collaboration with other healthcare professional organizations with the ultimate goal of ensuring quality genetic counseling services nationwide.
Reproductive justice advocacy efforts among genetic counselors and family planning providers
Authors: Johnstonbaugh Hannah Z. , Lee Jessica K. , Semesky Patrick , Sagaser Katelynn G. 
Published: October 2023

AbstractThroughout all areas of medical practice, genetic counselors (GCs) occupy a key position in promoting patients' personal autonomy while facilitating informed medical decision‐making. This professional position aligns with the concept of reproductive justice. Previous literature has attempted to define reproductive advocacy in medicine as well as the potential intersection of genetic counseling and reproductive justice advocacy work, yet limited data exist regarding GCs' perceptions of their role and involvement in reproductive justice advocacy work. This study aimed to identify the perceptions and actions of GCs regarding reproductive justice advocacy measures, as well as explore motivating factors influencing their attitudes and behaviors. Family planning providers, who tend to prioritize reproductive justice and advocacy, were surveyed to be a comparison group. We distributed an anonymous online survey within the National Society of Genetic Counselors (NSGC) and the Society of Family Planning (SFP) consisting of a 10‐item personality inventory and Likert scale questions exploring characteristics and behaviors regarding reproductive justice advocacy. Results from 252 eligible respondents were analyzed using descriptive statistics, Chi‐square, and Mann–Whitney U analyses. NSGC members are significantly less involved in several areas of reproductive justice advocacy, including regular participation in advocacy efforts when compared to SFP members (p = 0.04). The most cited barrier to NSGC members' participation was feeling unsure how to become involved, a significant difference compared to SFP members (p = 0.01). Findings from this study, undertaken in the final days of Roe v. Wade, suggest that GCs want to be more involved in reproductive justice advocacy but are uncertain where to begin. Intersociety collaboration and intra‐society promotion of grassroots reproductive justice efforts may reduce this perceived barrier and others like it.
The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast
Authors: Roche Kelly , Khan Shama P. , Botti Christina , Giampietro Philip , Anderson Sharon , Ashkinadze Elena 
Published: October 2023

AbstractThe use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis predicted if the parent(s) had undergone currently available ECS at the time of data collection in 2021. A retrospective chart review of patients seen for a medical genetic evaluation at a large academic institution was performed from June 1, 2017, through June 1, 2020. At this institution, 8% of patients were diagnosed with an AR or XLR condition. Of these patients, 61% of the diagnoses could have been predicted in advance if the parent(s) had undergone ECS via the panel referenced in this study. The results of this study highlight the broad range of conditions currently seen in a clinical setting that could be identified as a risk prior to or during pregnancy via ECS. In the prenatal setting, ascertainment of reproductive risk via ECS enables prospective parents to undertake interventions such as prenatal and preimplantation genetic diagnosis. For parents who decline reproductive risk‐reducing measures, knowledge about neonatal risk allows for prompt confirmatory testing. In the pediatric setting, the option of early and focused testing can benefit affected individuals and their families.
Implementation of a dedicated cascade testing clinic for patients at risk for hereditary cancer syndromes
Authors: Jacobs Michelle F. , Koeppe Erika S. , Chase Colby L. , Martinez Julia , Henry Marie‐Louise , Osborne Jenae M. , Stoffel Elena M. , Quinonez Shane C. 
Published: October 2023

AbstractCascade testing, the site‐specific genetic testing of relatives within families with an inherited condition, is underutilized. Long wait times for appointments in specialty genetics clinics are a known barrier to genetic testing access. In our cancer genetics, New Patient Clinic (NPC), the long wait time for an appointment (on average 5 months for routine referrals), was identified by both providers and patients as a barrier to uptake of cascade testing. Timely testing of at‐risk relatives is essential to maximize the benefits of cascade testing and reduce cancer morbidity and mortality. Our objective was to improve access via implementation of a different clinical model that designated appointments for patients seeking cascade testing. A secondary goal was to improve use of genetic counselor time. We implemented a dedicated Cascade Testing Clinic (CTC) with an expedited triaging and unique scheduling model to decrease patient wait time to appointment and optimize clinician time. We report on the process and outcomes here. Between October 2016 and February 2020, the average wait time between referral date and first scheduled appointment date was 46 days for the CTC compared to 144 days for the NPC (p < 0.0001). No‐show/cancelation/rescheduling rate was 11.7% in the CTC compared to 29.7% in the NPC (p < 0.0001). Genetic counselors saw approximately twice as many patients per half‐day clinic in the CTC compared to the NPC (p < 0.00001). Modifications to clinic staffing and appointment times were made based on provider feedback. Implementation of a dedicated clinic specifically for patients seeking cascade testing significantly shortened wait times for this population, reduced patient drop‐off, and improved clinician efficiency. The relatively straightforward indications and generally uncomplicated medical histories made this an ideal population for expedited appointments.
Higher HBeAg‐reversion virological relapse and lower sustained remission after treatment cessation in tenofovir‐treated HBeAg‐positive patients
Authors: Chen Yi‐Cheng , Hsu Chao‐Wei , Chien Rong‐Nan 
Published: October 2023

AbstractA complete investigation of the clinical outcomes after treatment cessation in HBeAg‐positive patients with HBeAg loss is limited. We retrospectively recruited 242 HBeAg‐positive patients with HBeAg loss after a median duration of 37.2 months with tenofovir (TDF, n = 77) or entecavir (ETV, n = 165) treatment. There were 77 (31.8%) patients with sustained virological remission (SVR), 85 (35.1%) with HBeAg‐reversion virological relapse, 80 (33.1%) with HBeAg‐negative virological relapse after treatment cessation, and 23 (9.5%) with HBsAg loss. Clinical data at baseline, on‐treatment and during off‐treatment follow‐up were analyzed. The 3‐year cumulative incidences of overall, HBeAg‐reversion and HBeAg‐negative virological relapse were 70.2%, 54%, and 53.5%, respectively. The common factors associated with HBeAg‐reversion and HBeAg‐negative virological relapse were tenofovir treatment (hazard ratio [HR] = 5.411, p < 0.001; HR = 2.066, p = 0.006, respectively) and HBsAg at end of treatment (EOT) (HR = 1.461, p = 0.001; HR = 1.303, p = 0.019, respectively). The 5‐year cumulative incidence of HBsAg loss in SVR patients was 13.7% and EOT HBsAg was the only associated factor (HR = 0.524, p = 0.024). Compared to that of ETV‐treated patients, TDF‐treated patients had a significantly higher 3‐year cumulative incidence of virological relapse (87.3% vs. 62.8%, p < 0.001), earlier HBeAg‐reversion virological relapse (2.9 vs. 7.8 months, p < 0.001), a higher rate of HBeAg‐reversion virological relapse (53.2% vs. 26.7%) and a lower SVR rate (15.6% vs. 39.4%) (p < 0.001). In summary, the clinical outcomes after treatment cessation in HBeAg‐positive patients with HBeAg loss were composed of HBeAg‐reversion virological relapse, HBeAg‐negative virological relapse and SVR. TDF was significantly associated with off‐treatment virological relapse. EOT HBsAg plays an important role in HBsAg loss among SVR patients and posttreatment virological relapse.
Integrative review on career interventions with unemployed people: Nature, outcomes, and recommendations
Authors: de Carvalho Catarina Luzia , Taveira Maria do Céu , Silva Ana Daniela 
Published: October 2023

AbstractThe study of career development among unemployed people is vital for effective institutional responses. This integrative review based on Torraco's protocol fills a literature gap by synthesizing research on interventions for this population. Seven keywords, five databases, and six eligibility criteria were defined. Among 324 articles, 36 were reviewed. Findings highlight diverse counseling modalities, emphasizing group interventions and remote delivery. Tailored approaches, including length, frequency, and social‐emotional and career dimensions, are crucial. Practical recommendations emphasize comprehensive, psychological support, goal‐oriented counseling, and postintervention assistance. These insights underscore vocational psychology's importance in addressing unemployment, impacting government policies, career services, and psychologists.
Confirming the stimulated Raman origin of singlet‐oxygen photogeneration
Authors: Olaizola Aristides Marcano , Zerrad Ameen , Janneto Fahim , Kingsley David H. 
Published: October 2023

AbstractWe confirm the Raman origin of the singlet oxygen photogenerated in water environments without using photosensitizers. Nanosecond light pulses in the blue region of the spectra (405–480 nm) generate Raman Stokes excitation of singlet oxygen in the red region (600–670 nm) when focusing on pure distilled water. The excitation also produces Stokes components corresponding to the stretching modes of water molecules. The time evolution of both types of Stokes components, singlet oxygen, and stretching modes correspond to the time duration of the excitation pulse as expected for a Raman process. Their power dependences are also similar. Finally, both signals exhibit high refractive ring structures due to the nonlinear optical interaction generated by the stimulated Raman process.
Do resected colorectal cancer patients need early chest imaging? Impact of clinicopathologic characteristics on time to development of pulmonary metastases
Authors: Deboever Nathaniel , Bayley Erin M. , Eisenberg Michael A. , Hofstetter Wayne L. , Mehran Reza J. , Rice David C. , Rajaram Ravi , Roth Jack A. , Sepesi Boris , Swisher Stephen G. , Vaporciyan Ara A. , Walsh Garrett L. , Bednarski Brian K. , Morris Van K. , Antonoff Mara B. 
Published: October 2023

AbstractBackground and ObjectivesFor patients with colorectal cancer (CRC), the lung is the most common extra‐abdominal site of distant metastasis. However, practices for chest imaging after colorectal resection vary widely. We aimed to identify characteristics that may indicate a need for early follow‐up imaging.MethodsWe retrospectively reviewed charts of patients who underwent CRC resection, collecting clinicopathologic details and oncologic outcomes. Patients were grouped by timing of pulmonary metastases (PM) development. Analyses were performed to investigate odds ratio (OR) of PM diagnosis within 3 months of CRC resection.ResultsOf 1600 patients with resected CRC, 233 (14.6%) developed PM, at a median of 15.4 months following CRC resection. Univariable analyses revealed age, receipt of systemic therapy, lymph node ratio (LNR), lymphovascular and perineural invasion, and KRAS mutation as risk factors for PM. Furthermore, multivariable regression showed neoadjuvant therapy (OR: 2.99, p < 0.001), adjuvant therapy (OR: 6.28, p < 0.001), LNR (OR: 28.91, p < 0.001), and KRAS alteration (OR: 5.19, p < 0.001) to predict PM within 3 months post‐resection.ConclusionsWe identified clinicopathologic characteristics that predict development of PM within 3 months after primary CRC resection. Early surveillance in such patients should be emphasized to ensure timely identification and treatment of PM.
Triggered Crosslinking of Main‐Chain Enediyne Polyurethanes via Bergman Cyclization
Authors: Cai Yue , Binder Wolfgang H. 
Published: October 2023

AbstractCrosslinking chemistries occupy an important position in polymer modification with a particular importance when triggered in response to external stimuli. Enediyne (EDY) moieties are used as functional entities in this work, known to undergo a pericyclic Bergman cyclization (BC) to induce a triggered crosslinking of polyurethanes (PU) via the intermediately formed diradicals. Diamino‐EDYs, where the distance between the enyne‐moieties is known to be critical to induce a BC, are placed repetitively as main‐chain structural elements in isophorone‐based PUs to induce reinforcement upon heating, compression, or stretching. A 7‐day compression under room temperature results in a ≈69% activation of the BC, together with the observation of an increase in tensile strength by 62% after 25 stretching cycles. The occurrence of BC is further proven by the decreased exothermic values in differential scanning calorimetry, together with characteristic peaks of the formed benzene moieties via IR spectroscopy. Purely heat‐induced crosslinking contributes to 191% of the maximum tensile strength in comparison to the virgin PU. The BC herein forms an excellent crosslinking strategy, triggered by heat or force in PU materials.
Manipulating Cis‐Trans Copolymer Chain Conformation to Simultaneously Improve Permittivity and DC Breakdown Strength in Polythiourea
Authors: Jiang Liuhao , Liu Xia , Hu Shichun , Li Mingru , Yang Liuqing , Feng Yang , Li Shengtao 
Published: October 2023

AbstractPolythioureas (PTUs) show great potentials for applications in the new generation of film capacitors due to their excellent dielectric properties. Herein, the cis‐trans copolymer chain of PTU is successfully tailored by employing cis and trans cyclohexyl spacers. The relationship between the copolymer chain conformation, microstructure, and dielectric properties is carefully explored by a series of analysis. Compared with cis conformation, the trans with less steric hindrance can promote the formation of H‐bonds. The enhanced H‐bonding interactions not only reduce the molecular inter‐chain spacing, but also drive the self‐assembly of molecular chains to form cylindrical and droplet nano‐morphologies. The phase separation between cis and trans PTUs is confirmed by combining the experimental results of TEM and DSC, and the CT64‐PTU with the most two‐phase interface thus obtains the highest permittivity of 5.5 (@10 Hz). The reduced molecular inter‐chain spacing is accompanied by a decreased hopping distance of charges, which improves breakdown strength by 17% from 498 MV/m to 580 MV/m. Therefore, the cis‐trans copolymer chain conformation in PTU provides a simultaneous high permittivity and breakdown strength. This research offers a strategy to further design high‐performance dielectrics via regulation of copolymer chain conformation.
Construction of Carbon Dots@LiCl‐polyacrylamide with Humidity‐Induced Ultralong Room‐Temperature Phosphorescence to Fluorescence and Rigid‐to‐Flexible Transition Behavior
Authors: Zhao Huimin , Jia Xiaoyong , Zhang Man , Zhu Liangliang 
Published: October 2023

AbstractThe continuous advancement of luminescent materials has placed increasingly stringent requirements on dynamic color‐tunable ultralong room‐temperature phosphorescence (URTP) materials that can respond to external stimuli. Nevertheless, endowing URTP materials with stimuli‐response‐induced dynamic color tuning is a challenging task. This study introduces a carbon dots (CDs)@LiCl‐polyacrylamide (PAM) polymer system that switches from URTP to fluorescence under humidity stimuli, accompanied by a transition from rigidity to flexibility. The obtained rigid CDs@LiCl‐PAM exhibits ultralong green phosphorescence with a lifetime of 560 ms in the initial state. After absorbing moisture, it becomes flexible and its phosphorescence switches off. Moreover, the emission of the CDs@LiCl‐PAM film depends on the excitation wavelength. This property can potentially used in multicolored luminescence applications and displays. Moreover, multicolor luminescent patterns can be constructed in situ using the water‐absorption ability of the obtained thin film and the Förster resonance energy‐transfer strategy. The proposed strategy is expected to promote the interdisciplinary development of intelligent information encryption, anti‐counterfeiting, and smart flexible display materials.
Single‐cell sequencing reveals SATB2/NOTCH1 signaling promotes the progression of malignancy of epithelial cells from papillary thyroid cancer
Authors: Zhang Wenqian , Wang Jing , Huang Dongning , Liu Zhu , Lu Tie , Cui Chen , Li Zhendong 
Published: October 2023

AbstractAlthough most papillary thyroid cancers (PTCs) are deemed to have a favorable clinical course and outcome, some develop an aggressive biological behavior at diagnosis or during treatment. Single‐cell RNA sequencing (scRNA‐seq), which is based on quantifying the features of individual cells to resolve tumor tissue heterogeneity, was used to uncover gene regulatory relationships and trace the transcriptional trajectories underlying the malignant transformation. In this study, we performed single‐cell sequencing on samples from four PTC patients and one benign thyroid tumor patient. These included two papillary thyroid microcarcinoma cancers (PTMC) patients, two age‐matched advanced PTC patients with invading surrounding tissues, and one patient undergoing surgical treatment due to a benign thyroid tumor. We constructed a new PTC RNA spectrum using single‐cell sequencing. Single‐cell sequencing analysis indicated that there was a highly invasive subgroup in the PTC epithelial cells, the expression of SATB2 (special AT‐rich binding protein‐2) was related to the prognosis and clinical progress of PTC, and SATB2 could promote the proliferation, migration, and invasion of PTC cells. We found that NOTCH1 was the key target gene of SATB2, and the activation of the SATB2/NOTCH1 pathway was one of the reasons for the high carcinogenicity of this subgroup.
Role of epigenetic modifications and aging in inflammatory bowel disease
Authors: Du Yanting , Li Guo , Zhou Yang , Zuo Min , Wang Hu , Liu Yanan , Hong Liquan 
Published: October 2023

AbstractInflammatory bowel disease (IBD), which encompasses ulcerative colitis (UC) and Crohn's disease (CD), refers to a chronic and recurrent nonspecific inflammatory condition affecting the mucosal and submucosal layers of the intestines. A positive family history has been identified as a risk factor for the onset of IBD, likely influenced by genetic and environmental factors. In addition to intestinal damage, patients may have extraintestinal manifestations such as inflammation of the skin, eyes, and joints, inflammation of the liver or bile ducts, kidney stones, iron‐deficiency anemia, and growth retardation in children, which may complicate diagnosis and treatment. Therefore, investigating the mechanisms of IBD and finding precise therapeutic targets provides enormous benefits to patients with IBD. Multiple studies have consistently demonstrated the influential role of dietary metabolism and aging in the development of IBD. Moreover, emerging evidence suggests that aging often coincides with alterations in epigenetic modifications, while diet metabolism mediates these epigenetic changes. Epigenetics has emerged as a prospective field for identifying novel biomarkers to facilitate the diagnosis, prognosis, and treatment of diseases. Therefore, in this perspective, we summarize the cross‐talk between epigenetic modifications, diet metabolism, and aging in the pathogenesis of IBD and attempt to identify new potential therapeutic targets and strategies.