bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implementation of type 1 diabetes genetic risk screening in children in diverse communities: the Virginia PrIMeD project
Authors: Guertin Kristin A. , Repaske David R. , Taylor Julia F. , Williams Eli S. , Onengut-Gumuscu Suna , Chen Wei-Min , Boggs Sarah R. , Yu Liping , Allen Luke , Botteon Lacey , Daniel Louis , Keating Katherine G. , Labergerie Mika K. , Lienhart Tyler S. , Gonzalez-Mejia Jorge A. , Starnowski Matt J. , Rich Stephen S. 
Published: February 2024

Abstract
Background
Population screening for risk of type 1 diabetes (T1D) has been proposed to identify those with islet autoimmunity (presence of islet autoantibodies). As islet autoantibodies can be transient, screening with a genetic risk score has been proposed as an entry into autoantibody testing.

Methods
Children were recruited from eight general pediatric and specialty clinics across Virginia with diverse community settings. Recruiters in each clinic obtained informed consent/assent, a medical history, and a saliva sample for DNA extraction in children with and without a history of T1D. A custom genotyping panel was used to define T1D genetic risk based upon associated SNPs in European- and African-genetic ancestry. Subjects at “high genetic risk” were offered a separate blood collection for screening four islet autoantibodies. A follow-up contact (email, mail, and telephone) in one half of the participants determined interest and occurrence of subsequent T1D.

Results
A total of 3818 children aged 2–16 years were recruited, with 14.2% (n = 542) having a “high genetic risk.” Of children with “high genetic risk” and without pre-existing T1D (n = 494), 7.0% (34/494) consented for autoantibody screening; 82.4% (28/34) who consented also completed the blood collection, and 7.1% (2/28) of them tested positive for multiple autoantibodies. Among children with pre-existing T1D (n = 91), 52% (n = 48) had a “high genetic risk.” In the sample of children with existing T1D, there was no relationship between genetic risk and age at T1D onset. A major factor in obtaining islet autoantibody testing was concern over SARS-CoV-2 exposure.

Conclusions
Minimally invasive saliva sampling implemented using a genetic risk score can identify children at genetic risk of T1D. Consent for autoantibody screening, however, was limited largely due to the SARS-CoV-2 pandemic and need for blood collection.
Impaired 24-h activity patterns are associated with an increased risk of Alzheimer’s disease, Parkinson’s disease, and cognitive decline
Authors: Winer Joseph R. , Lok Renske , Weed Lara , He Zihuai , Poston Kathleen L. , Mormino Elizabeth C. , Zeitzer Jamie M. 
Published: February 2024

Abstract
Background
Sleep-wake regulating circuits are affected during prodromal stages in the pathological progression of both Alzheimer’s disease (AD) and Parkinson’s disease (PD), and this disturbance can be measured passively using wearable devices. Our objective was to determine whether accelerometer-based measures of 24-h activity are associated with subsequent development of AD, PD, and cognitive decline.

Methods
This study obtained UK Biobank data from 82,829 individuals with wrist-worn accelerometer data aged 40 to 79 years with a mean (± SD) follow-up of 6.8 (± 0.9) years. Outcomes were accelerometer-derived measures of 24-h activity (derived by cosinor, nonparametric, and functional principal component methods), incident AD and PD diagnosis (obtained through hospitalization or primary care records), and prospective longitudinal cognitive testing.

Results
One hundred eighty-seven individuals progressed to AD and 265 to PD. Interdaily stability (a measure of regularity, hazard ratio [HR] per SD increase 1.25, 95% confidence interval [CI] 1.05–1.48), diurnal amplitude (HR 0.79, CI 0.65–0.96), mesor (mean activity; HR 0.77, CI 0.59–0.998), and activity during most active 10 h (HR 0.75, CI 0.61–0.94), were associated with risk of AD. Diurnal amplitude (HR 0.28, CI 0.23–0.34), mesor (HR 0.13, CI 0.10–0.16), activity during least active 5 h (HR 0.24, CI 0.08–0.69), and activity during most active 10 h (HR 0.20, CI 0.16–0.25) were associated with risk of PD. Several measures were additionally predictive of longitudinal cognitive test performance.

Conclusions
In this community-based longitudinal study, accelerometer-derived metrics were associated with elevated risk of AD, PD, and accelerated cognitive decline. These findings suggest 24-h rhythm integrity, as measured by affordable, non-invasive wearable devices, may serve as a scalable early marker of neurodegenerative disease.
‘Skip’ osteoporosis vertebral compression fractures caused by electrical injury: a case report and review of the literature
Authors: Jia Ruili , Sun Yanhao , Liu Chong , Liu Rui-chao , Long Yubin 
Published: February 2024

Abstract
Introduction
Electrical injuries rarely result in fractures, such as long bone fractures and spinal fractures. A few articles have reported osteoporosis vertebral compression fractures (OVCFs) caused by electrical injuries. Here, we present a rare case of 37-year-old male suffering from the 9th thoracic (T9) and 5th lumbar (L5) OVCFs after receiving a electric shock.

Case presentation
A 37-year-old Han male experienced an electric shock (480 V direct current) at the working time and felt immediately serious back pain. He did not fall and lose consciousness. X-ray and magnetic resonance imaging showed acute OVCFs, as well as dual-energy X-ray absorptiometry indicated osteoporosis. Normal laboratory tests can avoid secondary osteoporosis resulting from metabolic diseases and tumors. Finally, he was diagnosed with acute discontinuous OVCFs (T9 and L5). The patient denied having a history of back pain, whereas, he had a history of smoking, alcohol abuse, and congenital heart disease (tetralogy of Fallot) were associated with osteoporosis. Considering no local kyphosis and < 50% anterior body compression, we selected conservative treatment for this patient. At a 1-year and 3-year follow-up, the lateral thoracic and lumbar radiography demonstrated no instability of the spine, and the back pain has been relieved.

Conclusions
This rare case reminds us the importance of consulting a detailed medical history when we encounter young patients receiving electrical injuries. Discontinuously OVCFs must not be overlooked, even though we encounter a young man.
A fog-edge-enabled intrusion detection system for smart grids
Authors: Tariq Noshina , Alsirhani Amjad , Humayun Mamoona , Alserhani Faeiz , Shaheen Momina 
Published: February 2024

AbstractThe Smart Grid (SG) heavily depends on the Advanced Metering Infrastructure (AMI) technology, which has shown its vulnerability to intrusions. To effectively monitor and raise alarms in response to anomalous activities, the Intrusion Detection System (IDS) plays a crucial role. However, existing intrusion detection models are typically trained on cloud servers, which exposes user data to significant privacy risks and extends the time required for intrusion detection. Training a high-quality IDS using Artificial Intelligence (AI) technologies on a single entity becomes particularly challenging when dealing with vast amounts of distributed data across the network. To address these concerns, this paper presents a novel approach: a fog-edge-enabled Support Vector Machine (SVM)-based federated learning (FL) IDS for SGs. FL is an AI technique for training Edge devices. In this system, only learning parameters are shared with the global model, ensuring the utmost data privacy while enabling collaborative learning to develop a high-quality IDS model. The test and validation results obtained from this proposed model demonstrate its superiority over existing methods, achieving an impressive percentage improvement of 4.17% accuracy, 13.19% recall, 9.63% precision, 13.19% F1 score when evaluated using the NSL-KDD dataset. Furthermore, the model performed exceptionally well on the CICIDS2017 dataset, with improved accuracy, precision, recall, and F1 scores reaching 6.03%, 6.03%, 7.57%, and 7.08%, respectively. This novel approach enhances intrusion detection accuracy and safeguards user data and privacy in SG systems, making it a significant advancement in the field.
Prevalence, regional distribution, and trends of antimicrobial resistance among female outpatients with urine Klebsiella spp. isolates: a multicenter evaluation in the United States between 2011 and 2019
Authors: Kaye Keith S. , Gupta Vikas , Mulgirigama Aruni , Joshi Ashish V. , Ye Gang , Scangarella-Oman Nicole E. , Yu Kalvin , Mitrani-Gold Fanny S. 
Published: February 2024

Abstract
Background
Antimicrobial resistance research in uncomplicated urinary tract infection typically focuses on the main causative pathogen, Escherichia coli; however, little is known about the antimicrobial resistance burden of Klebsiella species, which can also cause uncomplicated urinary tract infections. This retrospective cohort study assessed the prevalence and geographic distribution of antimicrobial resistance among Klebsiella species and antimicrobial resistance trends for K. pneumoniae in the United States (2011–2019).

Methods
K. pneumoniae and K. oxytoca urine isolates (30-day, non-duplicate) among female outpatients (aged ≥ 12 years) with presumed uUTI at 304 centers in the United States were classified by resistance phenotype(s): not susceptible to nitrofurantoin, trimethoprim/sulfamethoxazole, or fluoroquinolone, extended-spectrum β-lactamase-positive/not susceptible; and multidrug-resistant based on ≥ 2 and ≥ 3 resistance phenotypes. Antimicrobial resistance prevalence by census division and age, as well as antimicrobial resistance trends over time for Klebsiella species, were assessed using generalized estimating equations.

Results
270,552 Klebsiella species isolates were evaluated (250,719 K. pneumoniae; 19,833 K. oxytoca). The most frequent resistance phenotypes in 2019 were nitrofurantoin not susceptible (Klebsiella species: 54.0%; K. pneumoniae: 57.3%; K. oxytoca: 15.1%) and trimethoprim/sulfamethoxazole not susceptible (Klebsiella species: 10.4%; K. pneumoniae: 10.6%; K. oxytoca: 8.6%). Extended-spectrum β-lactamase-positive/not susceptible prevalence was 5.4%, 5.3%, and 6.8%, respectively. K. pneumoniae resistance phenotype prevalence varied (p < 0.0001) geographically and by age, and increased over time (except for the nitrofurantoin not susceptible phenotype, which was stable and > 50% throughout).

Conclusions
There is a high antimicrobial resistance prevalence and increasing antimicrobial resistance trends among K. pneumoniae isolates from female outpatients in the United States with presumed uncomplicated urinary tract infection. Awareness of K. pneumoniae antimicrobial resistance helps to optimize empiric uncomplicated urinary tract infection treatment.
The effect of chelating agents on the Zn-phytoextraction potential of hemp and soil microbial activity
Authors: Kalousek Petr , Holátko Jiří , Schreiber Patrik , Pluháček Tomáš , Širůčková Lónová Kamila , Radziemska Maja , Tarkowski Petr , Vyhnánek Tomáš , Hammerschmiedt Tereza , Brtnický Martin 
Published: February 2024

Abstract
Background
Hemp (Cannabis sativa) is a crop with a wide range of uses, from the production of fiber and seeds to the secondary metabolites for medicinal purposes. In addition, it is characterized by high biomass yield and the ability to accumulate heavy metals, which makes this plant convenient for phytoremediation purposes. In this study, the effect of applying exogenous biodegradable chelating agents, citric acid (CA) and nitrilotriacetic acid (NTA), to zinc-contaminated soil on zinc (Zn) uptake by two industrial hemp varieties ‘Felina 32’ and ‘Monoica’ was studied. The effect of CA and NTA on available Zn in soils was investigated using an ‘in pot’ experiment under controlled conditions. The effect of both tested compounds on soil microbial activity was simultaneously evaluated.

Results
After the application of NTA at a concentration of 5 mmol L−1, a > threefold increased accumulation of Zn in the above-ground parts was recorded in the ‘Felina 32’ variety. In the ‘Monoica’ variety, the levels of Zn in the above-ground parts were increased > twofold. NTA affected the soil microbiome negatively, causing decreased enzyme activity (in ‘Monoica’ planted soil) and induced respiration (in ‘Monoica’ and especially in ‘Felina 32’ planted soil). On the other hand, CA application did not lead to significantly increased Zn levels in any of the studied hemp varieties. Together with CA’s negative effects on some soil enzymes, CA enhanced urease activity, dehydrogenase and several respiration types for the ‘Felina 32’ variety and exerted less detrimental effect on the soil microbiome. No toxic effects from increased Zn uptake and accumulation in experimental plants were detected, accounting for the unchanged physiological stress markers (levels of photosynthetic pigments and proline in leaves, chlorophyll fluorescence parameters) and selected growth traits of the above-ground organs and root system.

Conclusions
From the studied varieties, ‘Felina 32’ seems to be more suitable for Zn-phytoextraction because of its higher tolerance to increased Zn levels, higher biomass production and Zn accumulation capacity. Our results indicate the potential of using the ‘Felina 32’ variety in NTA-assisted Zn phytoextraction from contaminated soils.

Graphical Abstract
Pathological complete response of initially unresectable multiple liver metastases achieved using combined peptide receptor radionuclide therapy and somatostatin analogs following pancreatic neuroendocrine tumor resection: a case report
Authors: Umino Ryosuke , Nara Satoshi , Kobayashi Noritoshi , Mizui Takahiro , Takamoto Takeshi , Ban Daisuke , Esaki Minoru , Hiraoka Nobuyoshi , Shimada Kazuaki 
Published: February 2024

Abstract
Background
Peptide receptor radionuclide therapy (PRRT) serves as a novel and effective treatment option for somatostatin receptor-positive unresectable liver metastases of pancreatic neuroendocrine tumors (PNETs). However, there are few reported cases of surgical resection for initially unresectable liver metastases of PNET that were converted to resectable after PRRT. Here we report a case where PRRT and somatostatin analogs (SSAs) led to a pathological complete response of initially unresectable multiple liver metastases following PNET resection.

Case presentation
A 52-year-old man underwent pylorus-preserving pancreaticoduodenectomy for PNET at age 40 and subsequent hepatectomies for resectable liver metastases at 44 and 47 years of age. At age 48, a follow-up examination revealed unresectable multiple liver metastases, and PRRT with 177Lu-DOTATATE therapy was initiated. After four cycles of PRRT, most liver metastases diminished according to imaging studies, and the remaining two hepatic lesions continued to shrink with additional lanreotide. Conversion surgery for liver metastases was successfully performed, revealing no viable tumor cells in tissue specimens. Seventeen months after surgery, imaging showed no detectable residual tumor or recurrence. We present a review of the relevant literature that highlights the significance of our findings.

Conclusions
This rare case highlights the pathological complete response of initially unresectable multiple liver metastases achieved by PRRT and SSAs following PNET resection, suggesting their potential as a multimodality treatment option for unresectable PNET.
A systematic review of the challenges, emerging solutions and applications, and future directions of PET/MRI in Parkinson’s disease
Authors: Leung Isabella Hoi Kei , Strudwick Mark William 
Published: February 2024

AbstractPET/MRI is a hybrid imaging modality that boasts the simultaneous acquisition of high-resolution anatomical data and metabolic information. Having these exceptional capabilities, it is often implicated in clinical research for diagnosing and grading, as well as tracking disease progression and response to interventions. Despite this, its low level of clinical widespread use is questioned. This is especially the case with Parkinson’s disease (PD), the fastest progressively disabling and neurodegenerative cause of death. To optimise the clinical applicability of PET/MRI for diagnosing, differentiating, and tracking PD progression, the emerging novel uses, and current challenges must be identified. This systematic review aimed to present the specific challenges of PET/MRI use in PD. Further, this review aimed to highlight the possible resolution of these challenges, the emerging applications and future direction of PET/MRI use in PD. EBSCOHost (indexing CINAHL Plus, PsycINFO) Ovid (Medline, EMBASE) PubMed, Web of Science, and Scopus from 2006 (the year of first integrated PET/MRI hybrid system) to 30 September 2022 were used to search for relevant primary articles. A total of 933 studies were retrieved and following the screening procedure, 18 peer-reviewed articles were included in this review. This present study is of great clinical relevance and significance, as it informs the reasoning behind hindered widespread clinical use of PET/MRI for PD. Despite this, the emerging applications of image reconstruction developed by PET/MRI research data to the use of fully automated systems show promising and desirable utility. Furthermore, many of the current challenges and limitations can be resolved by using much larger-sampled and longitudinal studies. Meanwhile, the development of new fast-binding tracers that have specific affinity to PD pathological processes is warranted.
Association of SLC30A8 rs13266634 gene polymorphism with type 2 diabetes mellitus (T2DM) in a population of Noakhali, Bangladesh: a case–control study
Authors: Mitu Farhana Siddiqi , Hossain Md. Murad , Das Shuvo Chandra , Islam Md. Mafizul , Barman Dhirendra Nath , Das Gupta Shipan 
Published: February 2024

Abstract
Background
Type 2 diabetes mellitus (T2DM) is considered to be a polygenic disorder that emerges as a result of complicated gene-environment interactions. Several investigations revealed that SLC30A8 rs13266634 polymorphism elevates T2DM risk. T2DM and hypertension (HTN) are often found to be coexist. Compared to normotensive non-diabetic controls, T2DM patients with HTN have a fourfold increased risk of cardiovascular disease (CVD). The average age of T2DM diagnosis is decreasing, and ‘early onset of T2DM’ in adolescents and young adults is an emerging worldwide health concern. The objective of this study was to examine the potential correlations of SLC30A8 rs13266634 polymorphism with T2DM and T2DM-related CVD and HTN as well as ‘early onset of T2DM’ in the Noakhali region.

Methods
This case–control study involved 163 T2DM patients and 75 healthy controls for analysis of SLC30A8-rs13266634 polymorphism. Genotyping of this polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method. MedCalc and Gene Calc programs were used for statistical analysis.

Results
A statistically significant association of SLC30A8 rs13266634 (P < 0.05) with T2DM was found in dominant, over dominant and allele models. But this study found no evidence of a connection between SLC30A8-rs13266634 with CVD, HTN, or ‘early onset of T2DM’ in any models. Furthermore, T2DM patients had higher total cholesterol (TC) and triglyceride (TG) levels than non-diabetics individuals.

Conclusions
This study revealed a substantial association between the variation in SLC30A8-rs13266634 and the increased risk of developing T2DM within a sample of the Noakhali population in Bangladesh. However, no significant associations were observed between SLC30A8-rs13266634 and T2DM-related cardiovascular disease (CVD), hypertension (HTN), or the early onset of T2DM within this specific population.
Serum level of hepcidin in cirrhotic patients as a marker for hepatocellular carcinoma
Authors: Mohiedeen Khaled Mahmoud , Tahoon Mona Moustafa , Hanna Christina Samir Sadek , Abdel Aziz Mohamed Adel 
Published: February 2024

Abstract
Background
People all around the world are affected by primary liver cancers like hepatocellular carcinoma (HCC), which is usually associated with cirrhosis. Early HCC detection is crucial for better prognosis, but effective biomarkers are still needed. Hepcidin, a hormone-regulating iron homeostasis, has been implicated in liver diseases. In this study, blood hepcidin levels were evaluated in cirrhotic individuals as a possible biomarker for HCC.

Methods
There were three groups involved in this case-control study: cirrhotic patients with no HCC (group I), cirrhotic patients diagnosed with HCC (group II), and healthy controls (group III). Clinical and laboratory data, such as those from tests indicating the liver function, hepcidin levels, and imaging, were all analyzed using a number of statistical tests.

Results
When compared to those with cirrhosis, serum hepcidin levels were significantly lower in HCC patients, but there was no significant difference statistically between the two studies involved: cirrhotic groups and the controls. Serum alpha-fetoprotein (AFP) was also significantly greater in HCC patients.

Conclusions
The start and progression of liver diseases, such as HCC in cirrhotic people, appear to be influenced by hepcidin. It can be utilized as a potential HCC biomarker when cirrhotic liver is present, despite the fact that it cannot be used to diagnose cirrhosis by itself.
Usability of simplified audiometry and electrocardiogram during treatment of drug-resistant tuberculosis in Mozambique: a qualitative study
Authors: Nhassengo Pedroso , Zandamela Américo , Nhamuave Celina , Cassy Sheyla Rodrigues , Chiau Rogério , Mutaquiha Cláudia , Zindoga Pereira , Manhiça Ivan , Khosa Celso , Cowan James 
Published: February 2024

Abstract
Background
In 2021, there were approximately 450,000 cases of drug-resistant tuberculosis (DR-TB) worldwide. The treatment of DR-TB historically included expensive and toxic injectable drugs leading to adverse effects including ototoxicity and Electrocardiogram (ECG) abnormalities. This study described the perspectives of healthcare providers and people with DR-TB on the usability of simplified audiometry and ECG for monitoring treatment adverse effects.

Methods
A qualitative study was conducted in December 2019 across four provinces in Mozambique, namely Maputo, Gaza, Zambézia, and Nampula. Sixteen outpatient primary care health facilities equipped with simplified Audiometry and/or ECG devices (specifically, SHOEBOX Audiometer® and/or SmartHeart Pro ECG®) installed for at least 6 months before the study initiation were selected. The data was collected using in-depth interviews (IDI) and Focus Group Discussions (FGD) techniques. Interviews were audio-recorded, transcribed verbatim in Portuguese, coded, and analyzed using Nvivo 12 software®. We generated two themes and fit our results into a conceptual framework consisting of three domains in the implementation of technological innovations in health.

Results
A total of 16 healthcare providers and 91 people undergoing treatment for DR-TB were enrolled in the study. Most people with DR-TB had experienced audiometry testing and demonstrated a good understanding of the assessments. Conversely, while most healthcare providers demonstrated robust knowledge of the importance of both audiometry and ECG assessments, they were not confident in managing ECG devices and interpreting the results.

Conclusions
While healthcare providers demonstrated a consolidated understanding of the importance of audiometry, the limited number of devices and lack of training were constraints, impeding optimal usage and service delivery.