bluuebunny/crossref_metadata_2025 huggingface dataset:
Peripartum Cardiomyopathy is Associated With Abnormalities of Myocardial Deformation and Late Gadolinium Enhancement
Authors: Du Plessis Jacques , Gujrathi Rahul , Hassanin Magdi , McKee Hayley , Hanneman Kate , Karur Gauri Rani , Chan Victor , Warnica Will , Wald Rachel M. , Nguyen Elsie T.
Published: September 2024

Purpose: Peripartum cardiomyopathy (PPCM) affects women in late pregnancy and postpartum. Cardiovascular magnetic resonance (CMR) can contribute to PPCM diagnosis and management. We explored CMR findings in PPCM, including myocardial strain and late gadolinium enhancement (LGE) patterns. Materials and Methods: This retrospective single-centre study included patients with PPCM who underwent CMR from 2010 to 2018. Exclusions were other cardiomyopathy causes. CMR parameters, including ventricular function, LGE, and myocardial strain, were compared between the PPCM group and healthy controls. Transthoracic echocardiographic data were reviewed to assess functional improvement in PPCM patients. Results: Thirty-two women with PPCM (mean age 42 ± 6 years) and 26 controls (mean age 43 ± 14 years) were included. PPCM patients had significantly lower left ventricular (LV) ejection fractions (median 37.5% vs 60.5%, P < .001), higher LV end-diastolic volumes (median 108 ml/m² vs 76 ml/m², P < .001), and reduced global LV strain compared to controls. Eighteen PPCM patients (58%) had non-ischaemic pattern LGE, with no LGE in controls besides hingepoint LGE (23%). LGE was most prevalent in the basal and mid anteroseptum. LGE patterns included linear mid-wall, subepicardial, and right ventricular side of the septum. Twenty-four patients (92%) showed improvement in LVEF at follow-up echocardiogram (mean LVEF 28% ± 1.9% at diagnosis and 45% ± 3% at follow-up, P < .001). Conclusion: We identified a non-ischaemic pattern LGE that is nonspecific in isolation but could suggest PPCM in the correct clinical context along with abnormal CMR strain values. Future studies should evaluate the clinical application of these findings to facilitate earlier diagnosis and enhance management.
Humans and climate in ritualized landscapes, the case of Lake Tota in the eastern highlands of Colombia
Authors: Vélez Maria I , Salgado Jorge , Delgado Miguel , Patiño Luisa F , Bird Broxton , Escobar Jaime H , Fajardo Sebastian
Published: September 2024

Tota is an Andean lake located in the Altiplano of the Eastern Andes of Colombia where socio-politically hierarchical societies of the Herrera and Muisca, flourished for millennia. To them, the lake and surrounding forest were places used for diverse of activities including religious rituals. In this study we produced a multi-proxy paleolimnological reconstruction using diatoms, isotopes, and geochemistry, to try to understand the lake’s pathways of change in response to natural climatic variations and anthropogenic activities. The diatom record is dominated by tychoplanktonic Staurosirella dubia and planktonic Aulacoseira species including species A. cf lirata, A. granulata, A. distans, and A. ambigua. Diatoms were grouped into functional groups and used to infer limnological changes that were further complemented with the geochemistry of the sediments to reconstruct the past environment. Results show three main periods in which the lake changed significantly, these are dated from ~800 to 1200, 1200 to 1500, and 1500 to 1900 CE. A correlation with the archeological record of the region, ethnohistoric accounts and climate suggests that these changes occurred simultaneously with changes in archeological stages, the Spanish arrival, and more recently by the industrial revolution, and the Little Ice Age.
Identifying Parenting Challenges During the COVID-19 Pandemic: A Survey-Based Study
Authors: Choudhury Nurul Ahad , Karunathilake Sachithra , Wheeler Denna , Condley Rachael , Saravanan Pratima
Published: September 2024

The objective of this study is to investigate the long-term effects of the COVID-19 pandemic on the perceived stress and mental health of parents. Specifically, this study aims to provide preliminary evidence on specific changes in children’s behaviors caused by the lockdown and the impact of these behaviors on the mental well-being of the parents. A survey was designed to achieve this, and N = 713 respondents completed it. The survey consisted of demographic questions, validated questionnaires—Adverse Childhood Experiences (ACES) and Positive Childhood Experiences (PCES), Perceived Stress Scale (PSS), Ages and Stages Questionnaires (ASQ), and a few other questions on parental stress. The quantitative and qualitative findings revealed several variables that significantly influenced the perceived stress and affected the mental health of parents with children born during the pandemic. The findings underscore the vital need for implementing coping strategies to mitigate the effects of these adverse stressors.
Trauma diagnoses during emergency psychiatric evaluation among youth with and without autism spectrum disorder
Authors: Junewicz Alexandra , Dhir Sakshi , Guo Fei , Song Yuxiao , Stein Cheryl R. , Baroni Argelinda
Published: September 2024

Autistic youth are more likely to experience traumatic events and may be more likely to develop trauma-related symptoms. However, accurately identifying trauma-related symptoms in autistic youth can be challenging. We examined post-traumatic stress disorder (PTSD) and other trauma-related diagnoses in youth with and without autism spectrum disorder (ASD) in a large, pediatric psychiatric emergency department (ED) in a diverse urban setting. Between March 2019 and November 2021, 2728 patients presented at our emergency psychiatric ED. Youth with ASD were 42% less likely to receive trauma-related diagnoses (prevalence ratio 0.58, 95% CI 0.41, 0.80) compared with youth without ASD. One possible explanation for this finding is that trauma-related symptoms are under-detected in youth with ASD during emergency psychiatric evaluations. There is a need for trauma screening and diagnostic instruments specifically tailored to the unique needs of youth with ASD to ensure optimal assessment and care.

Lay abstract

Autistic youth are more likely to experience maltreatment, victimization, and other traumatic events. However, it can be difficult to identify trauma-related symptoms in autistic youth, especially in those with limited verbal communication. In this study, we compared the prevalence of trauma-related diagnoses given to youth with autism spectrum disorder (ASD) to those given to youth without ASD who presented to a specialized pediatric psychiatric emergency department. We found that youth with ASD were 42% less likely to receive trauma-related diagnoses than youth without ASD. As there is evidence that youth with ASD are no less likely to experience traumatic events compared with youth without ASD, one possible explanation for this result is that trauma-related symptoms are missed during emergency psychiatric evaluations. Developing trauma screening instruments specifically designed for the needs of youth with ASD is an outstanding need.
Allogeneic Hematopoietic Cell Transplantation for Acute Myeloid Leukemia in Adults over 70 years old
Authors: Walter Roland B. , Potter Victoria , Craddock Charles
Published: September 2024

The advent of reduced-intensity conditioning regimens, improvements in graft-versus-host disease prophylaxis, and better supportive care have permitted increasing use of allogeneic hematopoietic cell transplantation (allo-HCT) in adults age ≥70 with AML. However, while potentially curative, non-relapse mortality and relapse represent the main causes of treatment failure, highlighting the importance of refining both patient selection and transplant strategies. At the same time, continuously evolving non-transplant therapies and transplant technologies mandate prospective trials (re-)examining the role of allo-HCT and its optimal delivery.
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect
Authors: Ranola John Michael O. , Horton Carolyn , Pesaran Tina , Fayer Shawn , Starita Lea M. , Shirts Brian H.
Published: September 2024

Background

A variant can be pathogenic or benign with relation to a human disease. Current classification categories from benign to pathogenic reflect a probabilistic summary of the current understanding. A primary metric of clinical utility for multiplexed assays of variant effect (MAVE) is the number of variants that can be reclassified from uncertain significance (VUS). However, a gap in this measure of utility is that it underrepresents the information gained from MAVEs. The aim of this study was to develop an improved quantification metric for MAVE utility. We propose adopting an information content approach that includes data that does not reclassify variants will better reflect true information gain. We adopted an information content approach to evaluate the information gain, in bits, for MAVEs of BRCA1, PTEN, and TP53. Here, one bit represents the amount of information required to completely classify a single variant starting from no information.

Results

BRCA1 MAVEs produced a total of 831.2 bits of information, 6.58% of the total missense information in BRCA1 and a 22-fold increase over the information that only contributed to VUS reclassification. PTEN MAVEs produced 2059.6 bits of information which represents 32.8% of the total missense information in PTEN and an 85-fold increase over the information that contributed to VUS reclassification. TP53 MAVEs produced 277.8 bits of information which represents 6.22% of the total missense information in TP53 and a 3.5-fold increase over the information that contributed to VUS reclassification.

Conclusions

An information content approach will more accurately portray information gained through MAVE mapping efforts than by counting the number of variants reclassified. This information content approach may also help define the impact of guideline changes that modify the information definitions used to classify groups of variants.
Short-term effects of a park-based group mobility program on increasing outdoor walking in older adults with difficulty walking outdoors: the Getting Older Adults Outdoors (GO-OUT) randomized controlled trial
Authors: Salbach Nancy M. , Mayo Nancy E. , Webber Sandra C. , Jones C. Allyson , Lix Lisa M. , Ripat Jacquie , Grant Theresa , van Ineveld Cornelia , Chilibeck Philip D. , Romanescu Razvan G. , Scott Susan , Barclay Ruth
Published: September 2024

Background

We estimated the short-term effects of an educational workshop and 10-week outdoor walk group (OWG) compared to the workshop and 10 weekly reminders (WR) on increasing outdoor walking (primary outcome) and walking capacity, health-promoting behavior, and successful aging defined by engagement in meaningful activities and well-being (secondary outcomes) in older adults with difficulty walking outdoors.

Methods

In a 4-site, parallel-group randomized controlled trial, two cohorts of community-living older adults (≥ 65 years) reporting difficulty walking outdoors participated. Following a 1-day workshop, participants were stratified and randomized to a 10-week OWG in parks or 10 telephone WR reinforcing workshop content. Masked evaluations occurred at 0, 3, and 5.5 months. We modeled minutes walked outdoors (derived from accelerometry and global positioning system data) using zero-inflated negative binomial regression with log link function, imputing for missing observations. We modeled non-imputed composite measures of walking capacity, health-promoting behavior, and successful aging using generalized linear models with general estimating equations based on a normal distribution and an unstructured correlation matrix. Analyses were adjusted for site, participation on own or with a partner, and cohort.

Results

We randomized 190 people to the OWG (n = 98) and WR interventions (n = 92). At 0, 3, and 5.5 months, median outdoor walking minutes was 22.56, 13.04, and 0 in the OWG, and 24.00, 26.07, and 0 in the WR group, respectively. There was no difference between groups in change from baseline in minutes walked outdoors based on incidence rate ratio (IRR) and 95% confidence interval (CI) at 3 months (IRR = 0.74, 95% CI 0.47, 1.14) and 5.5 months (IRR = 0.77, 95% CI 0.44, 1.34). Greater 0 to 3-month change in walking capacity was observed in the OWG compared to the WR group (βz-scored difference = 0.14, 95% CI 0.02, 0.26) driven by significant improvement in walking self-efficacy; other comparisons were not significant.

Conclusions

A group, park-based OWG was not superior to WR in increasing outdoor walking activity, health-promoting behavior or successful aging in older adults with difficulty walking outdoors; however, the OWG was superior to telephone WR in improving walking capacity through an increase in walking self-efficacy. Community implementation of the OWG is discussed.

Trial registration

ClinicalTrials.gov NCT03292510 Date of registration: September 25, 2017.
Mirror movements in multiple sclerosis -a clinical, electrophysiological, and imaging study
Authors: Holzapfel Korbinian , Bayas Antonios , Naumann Markus , Ghosh Tanupriya , Steuerwald Verena , Allweyer Martin , Kirschke Jan S. , Behrens Lars
Published: September 2024

Background

Mirror movements (MM) are commonly caused by a defect of interhemispheric pathways also affected in multiple sclerosis (MS), particularly the corpus callosum. We investigated the prevalence of MM in MS in relation to functional and morphological callosal fiber integrity by transcranial magnetic stimulation (TMS), magnetic resonance imaging (MRI), as well as fatigue.

Methods

In 21 patients with relapsing–remitting MS and 19 healthy controls, MM were assessed and graded (Woods and Teuber scale: MM 1—4) using a bedside test. Fatigue was evaluated using the Fatigue Scale for Motor and Cognitive Functions (FSMC) questionnaire. TMS measured ipsilateral silent period latency and duration. MRI assessed callosal atrophy by measuring the normalized corpus callosum area (nCCA), corpus callosum index (CCI), and lesion volume.

Results

MS patients had significantly more often and pronounced MM compared to healthy controls (p = 0.0002) and nCCA was significantly lower (p = 0.045) in MRI studies. Patients with higher MM scores (MM > 1 vs. MM 0/1) showed significantly more fatigue (higher FSMC sum score, p = 0.04, motor score, p = 0.01). In TMS and MRI studies, no significant differences were found between patients with MM 0/1 and those with MM > 1 (ipsilateral silent period measurements, CCA, CCI and lesion volume).

Conclusions

MM are common in MS and can easily be detected through bedside testing. As MM are associated with fatigue, they might indicate fatigue in MS. It is possible that other cerebral structures, in addition to the corpus callosum, may contribute to the origin of MM in MS.
Association between the atherogenic index of plasma and abdominal aortic calcification in adults: a cross-sectional study
Authors: Xu Cong , Xu Shuwan , Mai Peibiao , Tang Jiao , Xu Jiahua , Zhang Huanji
Published: September 2024

Background

Atherogenic index of plasma (AIP) index is an important marker of insulin resistance and a significant risk factor for cardiovascular disease. Abdominal aortic calcification (AAC) is significantly associated with subclinical atherosclerotic disease. However, there are no studies that have examined the relationship between AIP index and AAC, so we investigated the potential association between them in the general population.

Methods

This was a cross-sectional study using data from the National Health and Nutrition Examination Survey (NHANES, 2013–2014). The association of AIP with AAC was estimated by multivariable regression analysis.

Results

After adjusting for confounders, the odds of extensive AAC doubled per unit increase in the AIP index (OR = 2.00, 95% CI: 1.05, 3.83; P = 0.035). The multivariable OR and 95% CI of the highest AIP index tertile compared with the lowest tertile was significantly different. (OR = 1.73, 95% CI: 1.05, 2.83; P = 0.031). The subgroup analyses indicated that the association was consistent irrespective of age, sex, hypertension, diabetes, smoking status, eGFR and hypercholesteremia.

Conclusions

The AIP index was independently associated with the presence of extensive AAC in the study population. Further studies are required to confirm this relationship.
A qualitative study of experiences among young adults who increased their cannabis use during the COVID-19 pandemic
Authors: Struik Laura L. , Armasu Alexia , Fortin Genevieve , Riglea Teodora , Kalubi Jodi , Ferlatte Olivier , Naja Mounia , O’Loughlin Jennifer , Sylvestre Marie-Pierre
Published: September 2024

Background

Young adults face unique vulnerabilities during major life disruptions like the COVID-19 pandemic. The pandemic contributed to increases in mental health challenges and substance use among young adults. This study explores the experiences of young adults who increased their cannabis use during the pandemic.

Methods

Participants were recruited from the Nicotine Dependence in Teens (NDIT) study, and qualitative data were collected through semi-structured interviews conducted via Zoom. A total of 25 participants (ages 33–34) reporting increased cannabis use during the pandemic were included. Thematic analysis and gender-based analysis was employed to extract key themes.

Results

Five themes emerged: (1) No disruption in cannabis use; (2) Cannabis use to manage declines in mental health; (3) Cannabis use to break up pandemic boredom; (4) Cannabis use as an expression of freedom; (5) Cannabis use as “another way to chill out.”

Conclusions

This research provides valuable perspectives on how major life disruptions, like the COVID-19 pandemic, influence cannabis use among young adults. The findings offer guidance for public health initiatives and highlight avenues for further investigation.
The gut microbiota modifies antibody durability and booster responses after SARS-CoV-2 vaccination
Authors: Seong Hye , Yoon Jin Gu , Nham Eliel , Choi Yu Jung , Noh Ji Yun , Cheong Hee Jin , Kim Woo Joo , Kim Eui Ho , Kim Chulwoo , Han Young-Hee , Lim Sooyeon , Song Joon Young
Published: September 2024

Background

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines are pivotal in combating coronavirus disease 2019 (COVID-19); however, the declining antibody titers postvaccination pose challenges for sustained protection and herd immunity. Although gut microbiome is reported to affect the early antibody response after vaccination, its impact on the longevity of vaccine-induced antibodies remains unexplored.

Methods

A prospective cohort study was conducted involving 44 healthy adults who received two doses of either the BNT162b2 or ChAdOx1 vaccine, followed by a BNT162b2 booster at six months. The gut microbiome was serially analyzed using 16S rRNA and shotgun sequencing, while humoral immune response was assessed using a SARS-CoV-2 spike protein immunoassay.

Results

Faecalibacterium prausnitzii was associated with robust and persistent antibody responses post-BNT162b2 vaccination. In comparison, Escherichia coli was associated with a slower antibody decay following ChAdOx1 vaccination. The booster immune response was correlated with metabolic pathways involving cellular functions and aromatic amino acid synthesis.

Conclusions

The findings of this study underscored the potential interaction between the gut microbiome and the longevity/boosting effect of antibodies following vaccination against SARS-CoV-2. The identification of specific microbial associations suggests the prospect of microbiome-based strategies for enhancing vaccine efficacy.
Association between childhood maltreatment and obsessive-compulsive disorder comorbid with eating disorders: a cross-sectional study
Authors: Attar Salma , Jomaah Jinane , El Khoury Rhéa , Cordahi Colin , Seneque Maude , Courtet Philippe , Bou Khalil Rami , Guillaume Sebastien
Published: September 2024

Background

Obsessive-compulsive disorder (OCD) and eating disorders (ED) share common features, including the presence of obsessions and compulsions, and they often co-occur. Additionally, there is a significant comorbidity between ED and childhood traumatic experiences (CTE), as well as between CTE and OCD. Various biological and environmental factors have been proposed to explain the connection between ED, OCD, and CTE. This study explores the link between CTE and the comorbidity of ED and OCD, with the hypothesis that specific types of CTE may increase the risk of developing OCD in individuals with ED.

Methods

Participants (N = 562) were enrolled at an eating disorder unit in Montpellier, France, between March 2013 and January 2020. The Childhood Trauma Questionnaire (CTQ), Eating Disorder Examination Questionnaire (EDE-Q), and Mini International Neuropsychiatric Interview (MINI) were used to evaluate childhood maltreatment, assess clinical characteristics associated with ED, and categorize participants into two groups: patients with and without OCD.

Results

Bivariate analysis revealed that patients with comorbid ED and OCD had higher EDE-Q scores (p < 0.001), more anxiety disorders (p < 0.001), depressive disorders (p = 0.02), post-traumatic stress disorder (PTSD) (p < 0.001), and a higher incidence of sexual abuse (p < 0.001) and physical neglect (p = 0.04) compared to those without OCD. Multivariate analysis showed that the association between CTE and OCD was influenced by the presence of an anxiety disorder (p = 0.01) and a higher EDE-Q total score (p = 0.03), with a significant association with a history of sexual abuse (p = 0.04).

Conclusions

This demonstrates that CTE increases the risk of comorbid OCD in ED patients, correlating with more clinically severe ED and a higher likelihood of anxiety disorders.
Fruit sugar hub: gene regulatory network associated with soluble solids content (SSC) in Prunus persica
Authors: Núñez-Lillo Gerardo , Lillo-Carmona Victoria , Pérez-Donoso Alonso G. , Pedreschi Romina , Campos-Vargas Reinaldo , Meneses Claudio
Published: September 2024

Chilean peach growers have achieved worldwide recognition for their high-quality fruit products. Among the main factors influencing peach fruit quality, sweetness is pivotal for maintaining the market's competitiveness. Numerous studies have been conducted in different peach-segregating populations to unravel SSC regulation. However, different cultivars may also have distinct genetic conformation, and other factors, such as environmental conditions, can significantly impact SSC. Using a transcriptomic approach with a gene co-expression network analysis, we aimed to identify the regulatory mechanism that controls the sugar accumulation process in an 'O × N' peach population. This population was previously studied through genomic analysis, associating LG5 with the genetic control of the SSC trait. The results obtained in this study allowed us to identify 91 differentially expressed genes located on chromosome 5 of the peach genome as putative new regulators of sugar accumulation in peach, together with a regulatory network that involves genes directly associated with sugar transport (PpSWEET15), cellulose biosynthesis (PpCSLG2), flavonoid biosynthesis (PpPAL1), pectin modifications (PpPG, PpPL and PpPMEi), expansins (PpEXPA1 and PpEXPA8) and several transcription factors (PpC3H67, PpHB7, PpRVE1 and PpCBF4) involved with the SSC phenotype. These results contribute to a better understanding of the genetic control of the SSC trait for future breeding programs in peaches.
A case of preoperative embolization for a giant hypervascular pancreatic serous cystic neoplasm in pancreaticoduodenectomy
Authors: Matsuyoshi Takahito , Ikenaga Naoki , Nakata Kohei , Okamoto Daisuke , Matsumoto Takashi , Abe Toshiya , Watanabe Yusuke , Ideno Noboru , Kaku Keizo , Fujimori Nao , Ohuchida Kenoki , Okabe Yasuhiro , Oda Yoshinao , Ishigami Kousei , Nakamura Masafumi
Published: September 2024

Background

Preoperative vascular embolization is an effective strategy for managing meningiomas, neck paragangliomas, renal cell carcinomas, and bone metastasis by reducing the intraoperative bleeding volume and operation time. Although hypervascular tumors also occur in the pancreas, preoperative embolization for these tumors is not commonly practiced. We herein present a case of a giant serous cystic neoplasm (SCN) of the pancreas with significant arterial vascularity that was managed with preoperative interventional radiology and subsequently resected via pancreaticoduodenectomy.

Case presentation

A 60-year-old man presented with an 8-cm hypervascular tumor located at the head of the pancreas, identified as an SCN on pathologic examination. The tumor had increased by 13 mm over 5 years, necessitating surgical intervention. Computed tomography revealed a substantial blood supply to the tumor from the dorsal pancreatic artery and gastroduodenal artery, both branches of the superior mesenteric artery. To mitigate the risk of severe intraoperative bleeding from this giant hypervascular tumor, branches of the dorsal pancreatic artery and gastroduodenal artery were embolized using metallic coils and further secured using a gelatin sponge 1 day prior to pancreatectomy. During the laparotomy, the tumor appeared to have decreased in size, likely because of reduced distension and congestion. Despite significant adhesions to surrounding tissues secondary to prolonged compression and inflammation, the pancreaticoduodenectomy was completed successfully in 5 h and 15 min with blood loss of 763 mL. The patient was discharged on postoperative day 15 without complications.

Conclusions

Preoperative arterial embolization for hypervascular pancreatic tumors might control the risk of massive intraoperative bleeding, contributing to a favorable postoperative outcome. Utilizing interventional radiology for preoperative inflow control is one of the beneficial strategies for pancreatectomy in patients with a giant SCN.
The value of rapid on-site evaluation during conventional and endobronchial ultrasound needle aspiration in the diagnosis of mediastinal lymphadenopathy and lung cancer
Authors: Magdy Omnya , AbdelDayem Aya , ELMaraghi Ashraf , Ali Maryam , Hafez Fatma
Published: September 2024

Background

The endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has revolutionized pulmonology by identifying cancer spread in lung cancer patients. It is now used for diagnosing sarcoidosis, tuberculosis, and lymphoma. Rapid onsite evaluation (ROSE) is a crucial tool for pathologists, assisting in sample adequacy, accuracy, and prompt decision-making. This study aimed to evaluate the efficacy of ROSE in identifying mediastinal lymphadenopathy and lung cancer during EBUS-TBNA and cTBNA.

Methods

Our research was a prospective study in which we examined sixty cases that were separated into two groups of similar size. The rapid onsite evaluation group and the non-rapid onsite evaluation group were subjected to either Conventional TBNA or endobronchial ultrasound-guided transbronchial needle aspiration.

Results

The total diagnostic yield of conventional and endobronchial ultrasound-guided transbronchial needle aspiration in both groups was 83.3% (50/60 cases). Twenty-eight cases (46.7%) were positive for malignancy, 22 cases (36.6%) were positive for benign lesions, and 10 cases (16.6%) were not conclusive. Regarding diagnostic accuracy, it was greater in the rapid onsite evaluation group than in the non-rapid onsite evaluation group (100% in the rapid onsite evaluation group vs. 66.7% in the non-ROSE group).

Conclusions

Rapid onsite evaluation during conventional or endobronchial ultrasound-guided transbronchial needle aspiration improves diagnostic accuracy of mediastinal lesions by excluding suspicious or nondiagnostic specimens and can reduce unnecessary punctures or eliminate the need for additional bronchoscopy procedures when reaching preliminary diagnosis.
Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome
Authors: Spagnuolo Catherine M , Wang Jian , McIntyre Adam D , Kennedy Brooke A , Hegele Robert A
Published: September 2024

Context

Patients with rare familial chylomicronemia syndrome (FCS) and relatively common multifactorial chylomicronemia syndrome (MCS) both express severe hypertriglyceridemia, defined as plasma triglyceride concentration ≥10 mmol/L (≥885 mg/dL). Clinically there can be confusion between the 2 conditions.

Objective

To compare clinical and biochemical phenotypes in patients with genotypically characterized FCS and MCS.

Methods

We performed targeted sequencing of DNA from 193 patients with severe hypertriglyceridemia, classified them as having either FCS or MCS, and compared clinical and biochemical characteristics.

Results

Patients with FCS were significantly younger than patients with MCS (31.4 ± 16.7 vs 51.0 ± 11.3 years; P = .003), with earlier age at symptom onset (15.0 ± 15.8 vs 37.8 ± 8.8 years; P = .00066), lower body mass index (23.3 ± 3.1 vs 30.7 ± 5.0 kg/m2; P = .000016), and higher prevalence of pancreatitis events (81.8% vs 35.2%; P = .003). Furthermore, patients with FCS had a higher ratio of triglyceride to total cholesterol (ie, 4.18 ± 0.92 vs 1.08 ± 0.51; P < .0001) and lower plasma apolipoprotein B (ie, 0.56 ± 0.15 vs 1.02 ± 0.43 g/L; P < .0001) than patients with MCS. Patients with MCS with heterozygous pathogenic variants had a relatively more severe clinical presentation than other MCS genetic subgroups.

Conclusion

Patients with FCS have notable phenotypic differences from patients with MCS, although there is overlap. While genetic analysis of patients with persistent severe hypertriglyceridemia can definitively diagnose FCS, 8.8% of patients with MCS with sustained refractory hypertriglyceridemia behave functionally as if they have FCS, which should influence their eligibility for novel therapies for severe hypertriglyceridemia.
Cardiometabolic Aspects of Congenital Adrenal Hyperplasia
Authors: Krysiak Robert , Claahsen-van der Grinten Hedi L , Reisch Nicole , Touraine Philippe , Falhammar Henrik
Published: September 2024

Treatment of classic congenital adrenal hyperplasia (CAH) is directed at replacing deficient hormones and reducing androgen excess. However, even in the era of early diagnosis and lifelong hormonal substitution, the presence of CAH is still associated with numerous complications and also with increased mortality. The aim of this article was to create an authoritative and balanced review concerning cardiometabolic risk in patients with CAH. The authors searched all major databases and scanned reference lists of all potentially eligible articles to find relevant articles. The risk was compared with that in other forms of adrenal insufficiency. The reviewed articles, most of which were published recently, provided conflicting results, which can be partially explained by differences in the inclusion criteria and treatment, small sample sizes, and gene–environment interactions. However, many studies showed that the presence of CAH is associated with an increased risk of weight gain, worsening of insulin sensitivity, high blood pressure, endothelial dysfunction, early atherosclerotic changes in the vascular wall, and left ventricular diastolic dysfunction. These complications were more consistently reported in patients with classic than nonclassic CAH and were in part related to hormonal and functional abnormalities associated with this disorder and/or to the impact of overtreatment and undertreatment. An analysis of available studies suggests that individuals with classic CAH are at increased cardiometabolic risk. Excess cardiovascular and metabolic morbidity is likely multifactorial, related to glucocorticoid overtreatment, imperfect adrenal hormone replacement therapy, androgen excess, and adrenomedullary failure. Cardiometabolic effects of new therapeutic approaches require future targeted studies.
The FHA domain is essential for autoinhibition of KIF1A/UNC-104 proteins
Authors: Niwa Shinsuke , Watanabe Taisei , Chiba Kyoko
Published: September 2024

KIF1A/UNC-104 proteins, which are members of the kinesin superfamily of motor proteins, play a pivotal role in the axonal transport of synaptic vesicles and their precursors. Drosophila melanogaster UNC-104 (DmUNC-104) is a relatively recently discovered Drosophila kinesin. Although some point mutations that disrupt synapse formation have been identified, the biochemical properties of the DmUNC-104 protein have not been investigated. Here, we prepared recombinant full-length DmUNC-104 protein and determined its biochemical features. We analyzed the effect of a previously identified missense mutation in the forkhead-associated (FHA) domain, called bristly (bris). The bris mutation strongly promoted the dimerization of DmUNC-104 protein, whereas wild-type DmUNC-104 was a mixture of monomers and dimers. We further tested the G618R mutation near the FHA domain, which was previously shown to disrupt the autoinhibition of Caenorhabditis elegans UNC-104. The biochemical properties of the G618R mutant recapitulated those of the bris mutant. Finally, we found that disease-associated mutations also promote the dimerization of DmUNC-104. Collectively, our results suggest that the FHA domain is essential for autoinhibition of KIF1A/UNC-104 proteins, and that abnormal dimerization of KIF1A might be linked to human diseases.
Bounded Rationality in Choice Theory: A Survey
Authors: de Clippel Geoffroy , Rozen Kareen
Published: September 2024

A vibrant literature incorporates elements of bounded rationality into choice theory. We survey this work, discussing five central ways in which the literature has modeled departures from the rational choice procedure. We discuss the variety of purposes axiomatic choice characterizations serve for these positive theories, delve into experimental tests, synthesize the welfare debate, and assess important future directions. (JEL D11, D44, D60, D83, D91)
Information Cascades and Social Learning
Authors: Bikhchandani Sushil , Hirshleifer David , Tamuz Omer , Welch Ivo
Published: September 2024

Social learning is the updating of beliefs based on observation of others. Such observation can lead to efficient aggregation of information, but also to inaccurate decisions, fragility of mass behaviors, and, in the case of information cascades, to complete blockage of learning. We review the theory of information cascades and social learning and discuss important themes, insights, and applications of this literature as it has developed over the last 30 years. We also highlight open questions and promising directions for further theoretical and empirical exploration. (JEL D71, D82, D83, D91, Z13)
The World of Sugar: How the Sweet Stuff Transformed Our Politics, Health, and Environment over 2,000 Years
Authors: Just David
Published: September 2024

David Just of Cornell University reviews “The World of Sugar: How the Sweet Stuff Transformed Our Politics, Health, and Environment over 2,000 Years” by Ulbe Bosma. The Econlit abstract of this book begins: “Explores the evolution of sugar from luxury to ubiquity, promoting the view that while the contemporary prevalence of sugar is an indication of progress, it also reveals a darker story of human exploitation, racism, obesity, and environmental destruction.”
Protection of the Russian political system using criminal law and criminological methods
Authors: Degterev Andrey Aleksandrovich
Published: September 2024

The monograph is devoted to current problems of characterizing crimes that encroach on the foundations of the political system of the Russian Federation. It examines the problems of social conditionality of criminal law norms provided for in Art. 141–142.2, 144, 277–279 of the Criminal Code of the Russian Federation, justified different legal nature of so-called electoral crimes and obstruction of the legitimate professional activities of journalists, as done by the legislator, the characteristics of the elements of these crimes were clarified, proposals were developed to improve the relevant criminal law norms and develop recommendations for the practice of their application.
The monograph develops a unified criminological approach to the formation of the personality of a criminal who commits crimes against the foundations of the constitutional order and the foundations of the political system. A new criminological characteristic of the criminal’s personality is presented, committing crimes against the foundations of the constitutional order, a criminological portrait is presented.
For teachers, researchers, graduate students and students law schools, judges, prosecutors, lawyers and investigators.
Legislation is updated as of July 1, 2023.
Zniewalające pokusy nauki
Authors: Turner Stephen , Chubin Daryl
Published: September 2024

Dyskutowane są zmiany w nauce i ich znaczenie dla zrozumienia norm nauki oraz zwiększonego ulegania kontroli zewnętrznej, jakiej podlega transformacja nauki w obecnym reżimie ewaluacji, konkursów grantowych i komercjalizacji. Zadaje się także pytanie, czy rodzaj badań dotyczących fundamentalnych kwestii poruszanych w Podwójnej helisie został  wyparty przez obecną organizację nauki.
Trainee district nurses' understanding and perceptions of the palliative care key worker role: a qualitative study
Authors: McDonald Lisa , Hasson Felicity
Published: September 2024

Background:

The district nurse is identified as a keyworker in community based palliative care. However, a dearth of research exists on trainees' views and understanding of adopting the role upon qualification.

Aims:

The aim of this study was to explore the understanding and perceptions of district nurse trainees in relation to the palliative care key worker role.

Methods:

Data was gathered via online semi-structured interviews (n=10) and the results were analysed using a thematic model.

Findings:

The four evolving themes included: understanding of the palliative care key worker role scope and function; the level of preparation for the role; a juggling act and embedding the role in practice.

Conclusion:

The themes highlighted various drivers and barriers that reflect a degree of incongruence with policy and practice. Recommendations to standardise the palliative care key worker role, underpinned by formal preparation and clearly defined responsibilities may enhance future development and implementation of the role.
Predicting Chlorophyll-a Concentration and Harmful Algal Blooms in Lake Okeechobee Using Time-Series MODIS Satellite Imagery and Long Short-Term Memory
Authors: Bagherian Kamand , Fernández-Figueroa Edna G. , Rogers Stephanie R. , Wilson Alan E. , Bao Yin
Published: September 2024

Highlights

A 10-year dataset of time-series MODIS imagery and in situ Chl-a concentration were curated for Lake Okeechobee.

LSTM significantly outperformed KNN, SVR, and RF for Chl-a prediction and subsequent HAB detection.

The optimal window length was found to be 13 days with a 4-day temporal resolution for the LSTM model.

KNN, SVR, and RF models were not effective at utilizing the temporal dynamics of the input features.

Abstract. Harmful algal blooms (HABs) in inland waterbodies are a global concern due to their negative impact on human, animal, and ecosystem health. Chlorophyll-a (Chl-a) concentration is an important water quality parameter for monitoring HABs. While statistical and machine learning (ML) models have been widely studied to predict Chl-a concentration and HABs based on single-time-point satellite data, this work assessed whether long short-term memory (LSTM) can improve both tasks by leveraging temporal features in time-series MODIS satellite images compared to three classical ML models, including k-nearest neighbor (KNN), support vector regression (SVR), and random forest (RF). A dataset of daily MODIS images and monthly in situ Chl-a concentration measurements from 2011 to 2020 was curated for Lake Okeechobee, Florida. A window size of 13 days with a temporal resolution of four days was found to produce the optimal performance for LSTM, which significantly outperformed KNN, SVR, and RF for Chl-a prediction with a root mean square error of 11.95 µg/L, a mean absolute error of 8.55 µg/L, and a R2 value of 0.43. The superior performance of LSTM for Chl-a prediction was likely due to its ability to leverage the temporal dynamics in the features associated with HAB development. The Chl-a predictions were further used to determine HAB events, showing better accuracy and a significantly higher F1 score for LSTM over the other models. The study suggested that combining LSTM with high-temporal-resolution time-series data should be preferred over applying common ML models on time-series or single-time-point remote sensing data for Chl-a and HAB monitoring. Keywords: Cyanobacteria, LSTM, Machine Learning, Remote Sensing, Water Quality.
Hydraulic Characterization of the External Flow Field of a Pressure-Self-Controlled Water-Pesticide Integrated Sprinkler
Authors: Liu Junping , Zhao Yanyan , Pei Ji , Hussain Zawar , Mughal Waqas
Published: September 2024

Highlights

A pressure-self-controlled water-pesticide integrated sprinkler was developed for trellis crops.

The dual-flow channel design integrates both water and pesticides and allows simultaneous downward irrigation of grape roots and upward spraying of grape branches and leaves.

The comprehensive scoring method was employed to evaluate the spraying performance of the water-pesticide integrated sprinkler for both irrigation and spraying modes.

Abstract. To ensure optimal growth of plants, including for trellis-style grape cultivation, it is essential to provide water to plant roots, branches, and leaves. Unfortunately, existing sprinkler systems are not designed to accommodate irrigation and spraying at the same time. To address this issue, a pressure-self-controlled water-pesticide integrated sprinkler was developed for trellis crops in this research. To assess the performances of irrigation and spraying modes, several factors, including the droplet diameter, droplet velocity, droplet striking kinetic energy, spray uniformity, and velocity distribution, were evaluated. Advanced measurement tools such as a two-dimensional video disdrometer (2DVD) and a particle image velocimeter (PIV) were employed to experimentally study the hydraulic features of different working modes. This study provides precise working parameters, including pressure and installation height, for the sprinkler system under different conditions. These parameters offer valuable engineering guidance. Notably, during irrigation, the sprinkler dispersed water toward the ground to irrigate the roots. Furthermore, the spray droplet diameter and velocity decreased with increasing pressure. Based on an analysis of the parameters affecting the droplet striking kinetic energy, the recommended optimal working pressure is 250 kPa. The high-pressure water produced by the sprinkler in the spraying mode effectively covered the crop leaves at an optimal working pressure of 400 kPa, as determined by the spray distribution pattern at different heights. In this study, for the water-pesticide integrated sprinkler, we recommend an installation height of 1.4 m for optimal operation. These findings could promote the practical application of this system. Keywords: Hydraulic performance, Spray characteristics, Spraying, Sprinkler irrigation, Water-pesticide integrated systems.
Severe Rigid Scoliosis Deformity Correction Using Extended Posterior Release and Instrumentation: A Retrospective Study
Authors:   Department of Orthopaedic Surgery, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India., Pisal Tushar , Gurnani Sagar ,   Department of Orthopaedic Surgery, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India., Kuity Kaman ,   Department of Orthopaedic Surgery, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India.
Published: September 2024

Introduction: Sever rigid scoliotic deformity (magnitude of the curve >80° and <25% correction on bending film) correction is a great challenge to spine surgeons. Severe scoliosis when untreated or not treated properly, may lead to severe complications due to curve progression. The aim of operative management is to achieve significant correction of sagittal, coronal, and rotational deformity to avoid neurodeficit, maintain sagittal balance, and improve cardiopulmonary function. Materials and Methods: In this retrospective study, eight patients with severe rigid scoliosis who underwent through single-staged extended posterior release and spinal fusion between March 2022 and November 2023. The surgical procedures were the excision of the posterior ligament and spinous process, laminectomy, excision of ligament flavum, facetectomy, and posterior spinal fusion utilizing pedicle screws, rods, and sub-laminar wires. Patients were evaluated radiologically using posteroanterior and lateral X-rays of the whole spine and computed tomography scans. Demographic data, pre- and post-operative cobbs angle, osteotomized segment, instrumentation segments, blood loss, operation duration, follow-up duration, and complications were recorded. Results: Pre-operative mean cobbs angle was 94.1° (range 83–110°) and post-operative mean cobbs angle was 33.3° (range 28–42°) with 64.6% scoliosis correction. The mean estimated blood loss was 517 mL (range 300–580 mL). The mean operation duration was 272.5 min (210–340 min). Mean spinal fixation fusion segments were 11.1 (range 8–14). No major complications were noted. Conclusion: Our study concluded that extended posterior-only release, facetectomy, and posterior spinal fusion by utilizing pedicle screws and pre-contoured rods significantly corrected severe and rigid scoliosis with a high correction rate and avoid complications of anterior release. Hence, we can achieve remarkable correction in rigid scoliosis using the proper choice of levels, proper implant, and extended posterior release. Keywords: Severe rigid scoliosis, extended posterior release, posterior spinal fusion.
The Reception of Women Letter-Writers in the Correspondence of John Locke (1632–1704)
Authors: Bourke Evan
Published: September 2024

ABSTRACT: Recently, scholars have begun to use network analysis to explore women’s participation in correspondence networks. One such correspondence with a distinct presence of women letter-writers is that of the philosopher John Locke (1632–1704), who corresponded with thirty-five different women, including the philosopher Damaris Masham (1659–1708), and his cousin Mary Clarke (c. 1656–c. 1705). Through the lens of citation and co-citation analysis, this essay explores the reception of the women letter-writers in Locke’s correspondence, arguing that shifting focus onto the reception of women facilitates a re-centering of these women’s activities even at moments that their own letters are no longer extant, examining the connections between how women letter-writers represent themselves and how they are represented by the wider network.
Shadow Networks: Identifying Intercepted Letters in the Elizabethan State Papers Foreign
Authors: Midura Rachel , Ahnert Sebastian E. , Ahnert Ruth
Published: September 2024

ABSTRACT: Combining traditional and digital methods, this essay models a new toolbox for analyzing the knotty problem of how many letters in the State Papers were introduced to the archive through interception. Estimates by scholars vary widely. Using the State Papers Foreign metadata for the reign of Elizabeth I, we employ a method of “layered searching” to find letters involving a third party. By structuring the communications as a network, we weight edges between correspondents and the Tudor State to distinguish acts of interception from forwarded letters or spy reports. These methods suggest likely candidates for interception with a sliding scale of confidence, helping to identify two broad models of letter interception outside England, which we dub “military-diplomatic” and “catch-and-release.” Overall, we estimate more than 5 percent of the collection to have been intercepted, highlighting a continuous network of intercepting officials from the Dutch Revolt to the imprisonment of Mary Stuart.