bluuebunny/crossref_metadata_2025_split huggingface dataset:
Patient experiences of implantable cardiac monitoring in hypertrophic cardiomyopathy: an exploratory study
Authors: Davies Brianna , Forman Jacqueline , McIlroy Cheryl , Joe Heather , Safabakhsh Sina , Liew Janet , Parker Jeremy , Du Darson , Andrade Jason G , Bennett Matthew T , Hawkins Nathaniel M , Chakrabarti Santabhanu , Yeung John , Deyell Marc W , Krahn Andrew D , Moss Robert , Ong Kevin , Laksman Zachary 
Published: January 2023

Abstract

Aims
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease. Insertable cardiac monitors (ICMs) are increasingly used in this population to provide closer monitoring, with the potential for notification systems. However, little is known regarding the psychological impact this information may have on patients. The Abbott Confirm Rx™ ICM has the capability of connecting to the patient’s smartphone to enable active participation in their care, as well as two-way communication between the patient and their care providers. This study aimed to explore individuals’ experiences of having a smartphone-enabled ICM to monitor for arrhythmias in HCM.

Methods and results
Semi-structured interviews were conducted with 10 participants. Utilizing a grounded theory approach, the interview guide was modified based on emerging themes throughout the study. Reflexive thematic analysis was applied to categorize interview data into codes and overacting themes, with each interview independently coded by two study members. Analysis revealed three key themes: (i) psychological impact, (ii) educational needs, and (iii) technology expectations. Participants reported that receiving feedback from ICM transmissions resulted in improved symptom clarity, providing reassurance, and aiding implantable cardioverter defibrillator decision-making. Some participants reported uncertainty regarding when to send manual transmissions. Lastly, participants reported the app interface did not meet expectations with regard to the amount of data available for patients.

Conclusion
Overall, utilizing a smartphone app to facilitate two-way communication of ICM transmissions was well accepted. Future directions include addressing gaps in educational needs and improvements in the patient interface with increased access to data.
Risk and trajectory of premature ischaemic cardiovascular disease in women with a history of pre-eclampsia: a nationwide register-based study
Authors: Hallum Sara , Basit Saima , Kamper-Jørgensen Mads , Sehested Thomas S G , Boyd Heather A 
Published: January 2023

AbstractAimsPre-eclampsia increases women’s lifetime risk of cardiovascular disease (CVD). Little is known about the trajectory of CVD after pre-eclampsia, limiting the usefulness of this knowledge for informing screening, prevention, and interventions. We investigated when the risk of CVD increases after pre-eclampsia and how the risk changes over time since pregnancy.Methods and resultsThis register-based study included 1 157 666 women with &gt;1 pregnancy between 1978 and 2017. Cumulative incidences of acute myocardial infarction (AMI) and ischaemic stroke were estimated, as well as hazard ratios (HRs) by attained age and time since delivery. Up to 2% [95% confidence interval (CI): 1.46–2.82%] of women with pre-eclampsia in their first pregnancy had an AMI or stroke within two decades of delivery, compared with up to 1.2% (95% CI: 1.08–1.30%) of pre-eclampsia-free women; differences in cumulative incidences were evident 7 years after delivery. Ten years after delivery, women with pre-eclampsia had four- and three-fold higher rates of AMI (HR = 4.16, 95% CI: 3.16–5.49) and stroke (HR = 2.59, 95% CI 2.04–3.28) than women without pre-eclampsia; rates remained doubled &gt;20 years later. Women with pre-eclampsia aged 30–39 years had five-fold and three-fold higher rates of AMI (HR = 4.88, 95% CI 3.55–6.71) and stroke (HR = 2.56, 95% CI 1.95–3.36) than women of similar age without pre-eclampsia.ConclusionsWomen with a history of pre-eclampsia have high rates of AMI and stroke at early ages and within a decade after delivery. The findings suggest that pre-eclampsia history could be useful in identifying women at increased risk of CVD and that targeted interventions should be initiated soon after delivery.
The racist origins, racialist connotations, and purity assumptions of the concept of “admixture” in human evolutionary genetics
Authors: Kampourakis Kostas , Peterson Erik L 
Published: January 2023

AbstractThe concept of admixture is currently widely being used, both in population genetics research and in DNA ancestry testing discourse. It is assumed to describe the process of gene flow between 2 previously distinct populations that eventually become admixed because of this flow. The concept per se does not require pure or unadmixed populations; the changes are relative and what matters is the level of admixture before and after the event under consideration. However, in this paper, we argue that the concept of admixture as currently used assumes the existence of pure or unadmixed categories. These do not need to have actually existed but to be able to exist in principle. We argue that this is a problematic notion that accrues from the racialist origins of the term admixture, which, as a result, is based on assumptions about purity. We suggest that scientists should be very cautious in their use of this term, especially in science education and communication. We also suggest that the term admixture should be better replaced by terms denoting similarity rather than difference.
Hotspot of de novo telomere addition stabilizes linear amplicons in yeast grown in sulfate-limiting conditions
Authors: Hoerr Remington E , Eng Alex , Payen Celia , Di Rienzi Sara C , Raghuraman M K , Dunham Maitreya J , Brewer Bonita J , Friedman Katherine L 
Published: January 2023

Abstract
Evolution is driven by the accumulation of competing mutations that influence survival. A broad form of genetic variation is the amplification or deletion of DNA (≥50 bp) referred to as copy number variation (CNV). In humans, CNV may be inconsequential, contribute to minor phenotypic differences, or cause conditions such as birth defects, neurodevelopmental disorders, and cancers. To identify mechanisms that drive CNV, we monitored the experimental evolution of Saccharomyces cerevisiae populations grown under sulfate-limiting conditions. Cells with increased copy number of the gene SUL1, which encodes a primary sulfate transporter, exhibit a fitness advantage. Previously, we reported interstitial inverted triplications of SUL1 as the dominant rearrangement in a haploid population. Here, in a diploid population, we find instead that small linear fragments containing SUL1 form and are sustained over several generations. Many of the linear fragments are stabilized by de novo telomere addition within a telomere-like sequence near SUL1 (within the SNF5 gene). Using an assay that monitors telomerase action following an induced chromosome break, we show that this region acts as a hotspot of de novo telomere addition and that required sequences map to a region of &lt;250 base pairs. Consistent with previous work showing that association of the telomere-binding protein Cdc13 with internal sequences stimulates telomerase recruitment, mutation of a four-nucleotide motif predicted to associate with Cdc13 abolishes de novo telomere addition. Our study suggests that internal telomere-like sequences that stimulate de novo telomere addition can contribute to adaptation by promoting genomic plasticity.
Age-Related Differences in Responses to Social Exclusion: Active Regulation Matters
Authors: Liao Shuyao , Tang Wei , Zhang Xin 
Published: January 2023

Abstract

Objectives
Although previous studies have reached a consensus that older adults have weaker responses to social exclusion than younger adults, the underlying mechanism is still under debate. The present study examined the age-related differences in responses toward social exclusion with self-report scales and electrodermal activity measurements, aiming at a further understanding of the possible mechanism behind these behaviors.

Methods
Sixty-nine younger (aged 16–28, Mage = 20.13) and 71 older adults (aged 55–82, Mage = 66.72) completed a Cyberball task to simulate social exclusion. They were then asked to regulate the exclusion experiences with different strategies (affect-focused attention/detached reappraisal/distraction strategies) in a subsequent regulation session. Their electrodermal activities were measured throughout the entire process. Self-report scales were measured after the Cyberball session and at the end of the regulation session.

Results
Similar to previous studies, older adults exhibited a lower level of responsiveness toward social exclusion in both self-report scales and electrodermal activities. Moreover, during the Cyberball session, older adults exhibited a tendency of increased electrodermal activity, followed by a decrease in activity. Younger adults demonstrated a pattern of continuous increase. In the regulation session, younger adults from the detached reappraisal regulation strategy condition mimicked the overall response pattern of older adults, such that they exhibited lower levels of responsiveness toward social exclusion.

Discussion
The results from the present study indicate that active emotion regulation (i.e., detached reappraisal) in appraisal stage rather than declined cognition might account for the age-related differences in responses toward social exclusion between older and younger adults.
A molecular phenotypic map of malignant pleural mesothelioma
Authors: Di Genova Alex , Mangiante Lise , Sexton-Oates Alexandra , Voegele Catherine , Fernandez-Cuesta Lynnette , Alcala Nicolas , Foll Matthieu 
Published: January 2023

Abstract

Background
Malignant pleural mesothelioma (MPM) is a rare understudied cancer associated with exposure to asbestos. So far, MPM patients have benefited marginally from the genomics medicine revolution due to the limited size or breadth of existing molecular studies. In the context of the MESOMICS project, we have performed the most comprehensive molecular characterization of MPM to date, with the underlying dataset made of the largest whole-genome sequencing series yet reported, together with transcriptome sequencing and methylation arrays for 120 MPM patients.

Results
We first provide comprehensive quality controls for all samples, of both raw and processed data. Due to the difficulty in collecting specimens from such rare tumors, a part of the cohort does not include matched normal material. We provide a detailed analysis of data processing of these tumor-only samples, showing that all somatic alteration calls match very stringent criteria of precision and recall. Finally, integrating our data with previously published multiomic MPM datasets (n = 374 in total), we provide an extensive molecular phenotype map of MPM based on the multitask theory. The generated map can be interactively explored and interrogated on the UCSC TumorMap portal (https://tumormap.ucsc.edu/?p=RCG_MESOMICS/MPM_Archetypes ).

Conclusions
This new high-quality MPM multiomics dataset, together with the state-of-art bioinformatics and interactive visualization tools we provide, will support the development of precision medicine in MPM that is particularly challenging to implement in rare cancers due to limited molecular studies.
DRUG INTERACTION BETWEEN PAXLOVID AND TACROLIMUS IN AN ADOLESCENT WITH INFLAMMATORY BOWEL DISEASE
Authors: Zaarur Leenoy , Patel Ashish , Pasternak Brad 
Published: January 2023

Abstract
The coronavirus disease of 2019 (COVID-19) caused by SARS-CoV-2 virus led to a worldwide pandemic. Emergency use of an investigational medication, Paxlovid, was approved for patient 12 and older who tested positive for COVID-19 and at high risk for severe infection. Inflammatory Bowel Disease (IBD) is a chronic condition causing inflammation in the gastrointestinal tract. Ulcerative Colitis (UC) is a type of IBD centralized in colon and commonly treated with Immunosuppressive drugs.
We present an adolescent with UC treated with paxlovid due to being on tacrolimus who developed with suspected tacrolimus toxicity.
CASE REPORT: A 13-year-old female with UC presented to the ED with vomiting and fatigue after paxlovid ttreatment for COVID. The patient’s UC treatment included tacrolimus along with ustekinumab. She had been diagnosed with SARS-CoV-2 and prescribed Paxlovid bid x 5 days due to immunosuppressive status. Tacrolimus was held during treatment. Once paxlovid completed, tacrolimus was restarted. Two days later, patient presented to ER for vomiting, fatigue, headaches and myalgia. Labs revealed a tacrolimus level of &gt;60 ng/ml . Electrolytes and Creatinine were normal. Toxicology felt this was due to interaction between paxlovid and tacrolimus. Patient advised to hold tacrolimus for 48 hours and repeat levels were 15.8 ng/mL. Symptoms resolved and level repeated three days later and was 2.9 ng/mL
DISCUSSION: Tacrolimus is an immunosuppressant, commonly used for management of organ transplants but also been found effective in treatment of IBD. Tacrolimus requires close monitoring as toxicity may lead to acute or chronic kidney disease. The normal concentration is between 5-15 ng/mL.
Due to rapid escalation of the COVID-19 pandemic, Paxlovid was approved for emergency use for treatment of high-risk patients. It is administered as a 5-day oral course consisting of nirmatrelvir and ritonavir. Our patient was prescribed Paxlovid due to risk secondary to immunosuppression. She was appropriately instructed to stop tacrolimus. Ritonavir is a cytochrome P450 3A inhibitor and can increase plasma concentration of tacrolimus. She restarted tacrolimus treatment 12 hours after her last dose of Paxlovid and presented with symptoms and a level consistent with toxicity. This level was concluded to be due to drug interaction between tacrolimus and Paxlovid. After further withholding of tacrolimus, symptoms improved, and levels normalized. Previous reports in transplant population stress importance of decreasing the dose of tacrolimus or withholding during the course of paxlovid treatment. This case demonstrates the importance of not only ceasing tacrolimus when administering paxlovid, but continuing discontinuation for longer period post completion of therapy to minimize interactions.
THE UTILITY OF BIOPSYING ENDOSCOPICALLY NORMAL APPEARING TERMINAL ILEUM
Authors: Vora Haily , Ibrahim Ramez , Johanna Chan , Farraye Francis , Al Hashash Jana 
Published: January 2023

Abstract

INTRODUCTION
The terminal ileum is often evaluated during colonoscopy procedures. A common indication for endoscopic examination and biopsy of an endoscopically normal appearing terminal ileum is in patients with inflammatory bowel disease (IBD). 1 In patients without IBD, indications for biopsying an endoscopically normal appearing terminal ileum are less clear and may be associated with increased cost and healthcare utilization, as well as increased levels of anxiety for patients. In this study, we aim to determine the indications for examining and biopsying an endoscopically normal appearing terminal ileum in patients without IBD and if, upon review of these biopsies, there is change in management.

METHODS
This was a retrospective chart review of patients who underwent colonoscopy with terminal ileum biopsy at Mayo Clinic between 1/1/2021 and 6/30/21. Patients were excluded if they had a history of IBD, prior ileocecal resection, or an endoscopically abnormal terminal ileum. Clinical and laboratory data, as well as outcomes of interest, were obtained from the electronic medical record. Comparisons between patients were performed using Pearson’s chi-square, Student’s and Mann-Whitney tests.

RESULTS
A total of two hundred consecutive patients were identified as having had biopsies from their endoscopically normal appearing terminal ileum. After reviewing the charts, 69 met inclusion criteria. Of the 69 patients, the majority were female (68.1%) and white (89.9%). Nearly half the patients had a BMI of 30 or above (49.3%). The most common indication for colonoscopy among these patients was chronic diarrhea followed by abdominal pain and hematochezia. Terminal ileum mucosa was histologically abnormal in 6 patients (8.7%): four patients had chronic ileitis, one had acute ileitis, and one had acute and chronic ileitis. All patients with either chronic or acute ileitis had chronic diarrhea listed as an indication for their colonoscopy. The patient with acute and chronic ileitis underwent colonoscopy for suspected Crohn’s disease due to incidental asymptomatic findings of small bowel inflammation on CT enterography.

CONCLUSIONS
In patients with a normal appearing terminal ileum, clinically significant histologic abnormalities on biopsies were found in a small percentage of patients. Although our sample size is small, there may not be diagnostic and therapeutic utility to routinely biopsy endoscopically normal appearing terminal ileum in patients, even in those with chronic diarrhea. Large prospective studies are needed to further support this observation.

REFERENCES
1McHugh, Jonathan B et al. “The diagnostic value of endoscopic terminal ileum biopsies.” The American journal of gastroenterology vol. 102,5 (2007): 1084-9.
A DIET AND LIFESTYLE-FACTOR INTERVENTION PROGRAM TO IMPROVE NUTRITIONAL STATUS, SYMPTOMS, AND QUALITY OF LIFE IN PATIENTS WITH INFLAMMATORY BOWEL DISEASE
Authors: Rogers Joseph , Rogers Brittany 
Published: January 2023

Abstract

BACKGROUND
This study sought to evaluate the impact of an evidence-based diet and lifestyle-factor intervention program on nutrition status, symptoms and quality of life of patients with IBD.

METHODS
In this retrospective observational study, de-identified medical records from patients with a self-reported diagnosis of IBD were analyzed. All patients included in the study completed an intervention program consisting of 12 to 24 one-on-one counseling sessions with an IBD-focused registered dietitian in a group-practice setting. Measures collected at baseline and at the conclusion of the program were SIBDQ, MUST, patient-reported symptoms, bowel movement frequency and consistency, measures of stress, fatigue, sleep quality as well as risk of eating and feeding disorders (NIAS-9, EAT-26).

RESULTS
67 patients met the inclusion criteria for the study. Patients with MUST scores &gt;0 at baseline had significantly decreased MUST scores at the end of the program (p=0.004). IBD-related quality of life scores were significantly higher (mean improvement of 18.6 points) at the end of the program compared to baseline (p&lt;0.001). 67 out of 67 patients (100%) reported fewer symptoms at the end of the program with the most improvements related to cramping (97.1%), nausea (94.4%), and fatigue (93.8%). 96.4% of patients experiencing &gt;3 bowel movements per day (BMPD) at baseline decreased their BMPD by the end of the program with 75% experiencing ≤ 3 BMPD. Patients also significantly improved their sleep quality (p&lt;0.001), fatigue level (p&lt;0.001), and stress levels (p&lt;0.001).

CONCLUSIONS
This study demonstrates the potential of a nutrition and lifestyle-factor intervention program to improve IBD patient outcomes. Further study is needed to validate these outcomes alongside a comparable control population and in other patient populations such as those associated with a health plan or employer.
AN UNUSUAL MANIFESTATION OF METASTATIC CROHN’S DISEASE: A CASE REPORT
Authors: Ashrafinia Narges , Guzowski Tomasz 
Published: January 2023

Abstract

INTRODUCTION
Crohn’s Disease (CD) is a chronic granulomatous inflammatory disease involving any section of the gastrointestinal (GI) tract. Metastatic Crohn’s Disease (MCD) is a rare extraintestinal manifestation of CD defined as cutaneous granulomatous lesions non-adjacent to the GI tract. We present a case of suppurative lymphadenitis as a presentation of MCD. This has not yet been reported in the literature.

CASE REPORT
A 22-year-old female with a history of iron deficiency anemia and left calf abscess, secondary to Methicillin-Resistant Staphylococcus Aureus (MRSA) infection, was diagnosed with ileocolonic CD at 18. Her CD was complicated by strictures and abdominal and left tubo-ovarian abscesses with a fistula to the sigmoid. She underwent Ileocolonic resection, sigmoid colectomy and left salpingo-oophorectomy. Histology of the ovarian abscesses unveiled granulation tissue with pseudocysts. Azathioprine and Infliximab were started. At 20, the patient reported acute onset of swelling and pain on the left side of her neck. She denied any constitutional symptoms, sick person or animal contacts, travel, use of recreational drugs and sexual activities. Physical exam was remarkable for a tender, rubbery, 2-centimetre left cervical lymph node. The neck Ultrasound showed cervical lymphadenitis. Antibiotic was started and later extended to target resistant infections. Despite this, she reported worsening symptoms. Computed Tomography of the neck noted a collection suggestive of suppurative lymphadenitis. Incision and Drainage (I & D) of the abscess was done; MRSA was detected. Histology exposed necrotizing granulomata encircled by palisading histocytes and giant cells. There was no evidence of dysplasia, fungal, acid-fast bacilli or spirochetes. Further, Human Immunodeficiency Virus serology, Interferon-Gamma Release Assay and chest radiograph were unremarkable. Later, she underwent surgical excision revealing a fistula to the lower mandible. A drain was placed and then removed upon recovery. Meantime, her CD stayed stable; Infliximab was held till the completion of antibiotics. A year later, she reported a tender, swollen lump on the left side of her groin with an ultrasound confirming inguinal suppurative lymphadenitis. Antibiotics were started, and I &D was done for lasting symptoms. The culture and histology were similar to the previous. Considering the history of CD and histology findings, MCD was concluded as the etiology of this patient’s recurrent MRSA abscesses.

CONCLUSION
Patients on biologic therapy are immunocompromised and presumed high risk for super-infections. In a setting of a persistent infection, despite antibiotics, the possibility of MCD as the cause of lymphadenitis should be raised to cue the clinician to alter therapy and address the MCD within a multidisciplinary setting.