bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel mutation in SORD gene associated with distal hereditary motor neuropathies
Authors: Yuan Xiaoqin , Zhang Shanshan , Shang Huifang , Tang Yufeng 
Published: June 2024

Abstract
Background
Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70–80% of those with the condition are still unable to receive a genetic diagnosis.

Methods
A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our hospital, and data on clinical features, laboratory tests, and electrophysiological tests were collected. To identify the disease-causing mutation, we conducted whole exome sequencing (WES) and then validated it through Sanger sequencing for the proband and his parents. Silico analysis was performed to predict the pathogenesis of the identified mutations. A literature review of all reported mutations of the related gene for the disease was performed.

Results
The patient presented with dHMN phenotype harboring a novel homozygous variant c.361G > C (p.Ala121Pro) in SORD, inherited from his parents, respectively. A121 is a highly conserved site and the mutation was categorized as “likely pathogenic” according to the criteria and guidelines of the American College of Medical Genetics and Genomics (ACMG). A total of 13 published articles including 101 patients reported 18 SORD variants. Almost all described cases have the homozygous deletion variant c.757delG (p.A253Qfs*27) or compound heterozygous state of a combination of c.757delG (p.A253Qfs*27) with another variant. The variant c.361G > C (p.Ala121Pro) detected in our patient was the second homozygous variant in SORD-associated hereditary neuropathy.

Conclusion
One novel homozygous variant c.361G > C (p.Ala121Pro) in SORD was identified in a Chinese patient with dHMN phenotype, which expands the mutation spectrum of SORD-associated hereditary neuropathy and underscores the significance of screening for SORD variants in patients with undiagnosed hereditary neuropathy patients.
Astrocytic stress response is induced by exposure to astrocyte-binding antibodies expressed by plasmablasts from pediatric patients with acute transverse myelitis
Authors: Smith Chad , Telesford Kiel M. , Piccirillo Sara G. M. , Licon-Munoz Yamhilette , Zhang Wei , Tse Key M. , Rivas Jacqueline R. , Joshi Chaitanya , Shah Dilan S. , Wu Angela X. , Trivedi Ritu , Christley Scott , Qian Yu , Cowell Lindsay G. , Scheuermann Richard H. , Stowe Ann M. , Nguyen Linda , Greenberg Benjamin M. , Monson Nancy L. 
Published: June 2024

Abstract
Background
Pediatric acute transverse myelitis (ATM) accounts for 20–30% of children presenting with a first acquired demyelinating syndrome (ADS) and may be the first clinical presentation of a relapsing ADS such as multiple sclerosis (MS). B cells have been strongly implicated in the pathogenesis of adult MS. However, little is known about B cells in pediatric MS, and even less so in pediatric ATM. Our lab previously showed that plasmablasts (PB), the earliest B cell subtype producing antibody, are expanded in adult ATM, and that these PBs produce self-reactive antibodies that target neurons. The goal of this study was to examine PB frequency and phenotype, immunoglobulin selection, and B cell receptor reactivity in pediatric patients presenting with ATM to gain insight to B cell involvement in disease.

Methods
We compared the PB frequency and phenotype of 5 pediatric ATM patients and 10 pediatric healthy controls (HC) and compared them to previously reported adult ATM patients using cytometric data. We purified bulk IgG from the plasma samples and cloned 20 recombinant human antibodies (rhAbs) from individual PBs isolated from the blood. Plasma-derived IgG and rhAb autoreactivity was measured by mean fluorescence intensity (MFI) in neurons and astrocytes of murine brain or spinal cord and primary human astrocytes. We determined the potential impact of these rhAbs on astrocyte health by measuring stress and apoptotic response.

Results
We found that pediatric ATM patients had a reduced frequency of peripheral blood PB. Serum IgG autoreactivity to neurons in EAE spinal cord was similar in the pediatric ATM patients and HC. However, serum IgG autoreactivity to astrocytes in EAE spinal cord was reduced in pediatric ATM patients compared to pediatric HC. Astrocyte-binding strength of rhAbs cloned from PBs was dependent on somatic hypermutation accumulation in the pediatric ATM cohort, but not HC. A similar observation in predilection for astrocyte binding over neuron binding of individual antibodies cloned from PBs was made in EAE brain tissue. Finally, exposure of human primary astrocytes to these astrocyte-binding antibodies increased astrocytic stress but did not lead to apoptosis.

Conclusions
Discordance in humoral immune responses to astrocytes may distinguish pediatric ATM from HC.
Determinants of virologic failure among adult HIV patients on first line antiretroviral treatment in Oromia, Central Ethiopia: 2022 a case-control study
Authors: Ayana Worku Gidisa , Ayana Hordofa Mulatu , Dechasa Yadeta Abebe 
Published: June 2024

Abstract
Background
Ethiopia’s viral suppression rate was less than 90% by 2020, and more than 10% of adult clients on ART in Woliso Town were unsuppressed at the end of March 2022. This study aims to identify determinants of virologic failure among adult clients on ART at health facilities in Oromia region of Ethiopia.

Methods
A facility-based unmatched case-control study was conducted at health facilities in Oromia region from August 1 to September 1, 2022. The study cases were clients with virologic-confirmed first-line ART failure, while controls were clients on first-line ART with a suppressed viral load. A total of 135 cases and 268 control participants were selected using simple random sampling techniques, and data were collected by reviewing the client’s document. Epi-Info7 was used for data entry and SPSS version 20 for data analysis. Variables having a P-value of less than 0.25 in the bi-variable analysis were included in multivariable logistic regression. Determinants of virologic failure were determined based on an adjusted odds ratio using 95% CI and a P-value of < 0.05.

Result
In this study, clients with an age ≥ 35 years (AOR = 3.4, 95% CI: 1.6, 7.0), clients with a baseline regimen of AZT + 3TC + NVP (AOR = 3.5, 95% CI: 1.4, 8.8), clients with a base-line CD4 count < 350 mm3 (AOR = 2.3, 95% CI: 1.1, 4.5), being single marital status (AOR = 3.7, 95% CI: 1.4, 10.5), TB-HIV coinfection (AOR = 2.58, 95% CI: 1.3, 5.1), and having opportunistic infection other than TB in the last six months (AOR = 3.06, 95% CI: 1.5, 6.3) were factors significantly associated with virologic failure while clients within the appointment spacing model (AOR = 0.05, 95% CI: 0.03, 0.10) is inversely associated with virologic failure.

Conclusion
This study showed that age ≥ 35 years, being single, baseline ART regimen with (AZT + 3TC + NVP), baseline CD4 cell count < 350 mm3, Tb-co infection, and opportunistic infection in the last 6 months were factors associated with virologic failure. Involvement in the appointment spacing model was found to be protective.
Groin pain aggravated in short term contracted by COVID-19 in THA patients: a case-crossover study
Authors: Chen Hongjie , Lai Peng , Lu Haiming , Zhu Jun , Sang Weilin , Wang Cong , Zhong Yiming , Zhu Libo , Ma Jinzhong 
Published: June 2024

Abstract
Background
The coronavirus disease 2019 (COVID-19) rapidly spreads worldwide and causes more suffering. The relation about the aggravation of inguinal pain and COVID-19 was unclear in patients with total hip arthroplasty (THA). This study aimed to evaluate the risk of groin pain aggravation in short-term THA patients after COVID-19.

Methods
Between 2020 and 2022, 129 patients with THA who were affected COVID-19 were enrolled. A short-standardized questionnaire was administered during follow-up to inquire about the aggravation of groin ache before and after SARS-COV-2 affection. Furthermore, we evaluated the potential association between the presence of increased pain and various factors, including age, gender, body mass index, diagnosis, and length of hospital stay.

Results
The case-crossover study revealed an increased risk of inguinal soreness aggravation when comparing 8 weeks after COVID-19 with 12 weeks before COVID-19 (Relative risk [RR], 9.5; 95% Confidence intervals [CI], 2.259–39.954). For COVID-19 positive patients, multivariate analysis showed length of stay was an independent factor significantly associated with increased risk of aggravation of groin pain (Odds ratio [OR], 1.26; 95%CI, 1.03–1.55, p = 0.027).

Conclusion
This study confirms the association between COVID-19 and the exacerbation of soreness in the groin region in THA patients and extended length of stay is a possible contributing factor. This study expands the current literature by investigating the risk of aggravation of inguinal pain in patients with THA after COVID-19, providing valuable insights into postoperative outcomes in this specific population.
Trial registration This retrospective study was approved by the Institutional Review Board of Shanghai general hospital (No.2023-264).
A case of lung metastasis from gastric cancer presenting as ground-glass opacity dominant nodules
Authors: Niimi Takahiro , Samejima Joji , Koike Yutaro , Miyoshi Tomohiro , Tane Kenta , Aokage Keiju , Taki Tetsuro , Ishii Genichiro , Tsuboi Masahiro 
Published: June 2024

Abstract
Background
Most metastatic lung tumors present as solid nodules on chest computed tomography (CT). In contrast, ground-glass opacity on chest computed tomography usually suggests low-grade malignant lesions such as adenocarcinoma in situ or atypical adenomatous hyperplasia of the lung.

Case presentation
A 75-year-old woman with a history of gastric cancer surgery approximately 5 years prior was referred to the Department of Thoracic Surgery at our hospital because of two newly appearing pulmonary ground-glass opacity-dominant nodules on chest computed tomography. She had two ground-glass opacities in the right lower lobe, one in the S6 segment was 12 mm and the other in the S10 segment was 8 mm. On chest computed tomography 15 months prior to referral, the lesion in the S6 segment was 8 mm, and the lesion in the S10 segment was 2 mm. She was suspected to have primary lung cancer and underwent wide-wedge resection of the nodule in the S6 segment. In the resected specimen, polygonal tumor cells infiltrated the alveolar septa, with some tumor cells exhibiting signet ring cell morphology. Based on morphological similarities to the tumor cells of previous gastric cancers and the results of immunostaining, the patient was diagnosed with lung metastases of gastric cancer.

Conclusions
Pulmonary nodules in patients with a history of cancer in other organs, even if ground-glass opacity is predominant, should also be considered for the possibility of metastatic pulmonary tumors if they are growing rapidly.
Is preoperative IABP insertion significantly reducing postoperative complication in augmented high-risk coronary artery bypass grafting patients?
Authors: Sazzad Faizus , Luo Hai Dong , Chang Guohao , Wu Duoduo , Ong Zhi Xian , Kofidis Theo , Kang Giap Swee 
Published: June 2024

Abstract
Background
The aim of this study was to determine whether pre-operative intra-aortic balloon pump (IABP) insertion improves surgical outcomes in high-risk coronary artery bypass grafting (CABG) patients.

Methods
Patients with a EuroSCORE II greater than 1.2% who underwent CABG from 2009 to 2016 were included in the study, while those who utilized intra-operative or post-operative IABP were excluded. The analysis included a total of 2907 patients, with 377 patients undergoing preoperative IABP insertion (EuroSCORE II > 5.018%) and 1198 patients in the non-IABP group before matching; after propensity score matching (PSM), both groups consisted of a matched cohort of 250 patients.

Results
30-day mortality events occurred in 9 (3.6%) non-IABP group and in 12 (4.8%) IABP patients (OR: 1.33 95%CI: 0.52–3.58). Kaplan-Meier survival curve analysis showed no significant differences between the two groups in mortality up to one year after the operation (p = 0.72). On multivariate analysis, IABP usage among the PSM patients was associated with lower 30-day mortality (OR: 0.28, 95%CI: 0.07–0.92, P-value = 0.043), 90-day mortality (OR: 0.26, 95%CI: 0.08–0.78, P-value = 0.022) and reduced risk of developing severe respiratory disorders (OR: 0.10, 95%CI:0.01–0.50, P-value = 0.011).

Conclusion
Pre-operative IABP use in high-risk patients reduces 30- and 90-day mortality rates, along with a notable decrease in rates of severe respiratory disorders.
Differential impacts of clinical, anatomical, and procedural factors on early and late mortality following open thoracoabdominal aortic repair: a retrospective observational study
Authors: Kim Jin Kyoung , Kim Gwan Sic , Kim Woo Seok , Kim Ho Jin , Choo Suk Jung , Kim Joon Bum 
Published: June 2024

Abstract
Background
The operative outcomes of thoracoabdominal aortic aneurysms (TAAAs) are challenged by high operative mortality and disabling complications. This study aimed to explore the baseline clinical, anatomical, and procedural risk factors that impact early and late outcomes following open repair of TAAAs.

Methods
We reviewed the medical records of 290 patients who underwent open repair of TAAAs between 1992 and 2020 at a tertiary referral center. Determinants of early mortality (within 30 days or in hospital) were analyzed using multivariable logistic regression models, while those of overall follow-up mortality were explored using multivariable Cox proportional hazards models and landmark analyses.

Results
The rates of early mortality and spinal cord deficits were 13.1% and 11.0%, respectively, with Crawford extent II showing the highest rates. In the logistic regression models, older age (P < 0.001), high cardiopulmonary bypass (CPB) time (P < 0.001), and low surgical volume of the surgeon (P < 0.001) emerged as independent factors significantly associated with early mortality. During follow-up (median, 5.0 years; interquartile range, 1.1–7.6 years), 82 late deaths occurred (5.7%/patient-year). Cox proportional hazards models demonstrated that older age (P < 0.001) and low hemoglobin level (P = 0.032) were significant risk factors of overall mortality, while the landmark analyses revealed that the significant impacts of low surgical volume (P = 0.017), high CPB time (P = 0.002), and Crawford extent II (P = 0.017) on mortality only remained in the early postoperative period, without significant late impacts (all P > 0.05).

Conclusion
There were differential temporal impacts of perioperative risk variables on mortality in open repair of TAAAs, with older age and low hemoglobin level having significant impacts throughout the postoperative period, and low surgical volume, high CPB time, and Crawford extent II having impacts in the early postoperative phase.
Impact of RA treatment strategies on lipids and vascular inflammation in rheumatoid arthritis: a secondary analysis of the TARGET randomized active comparator trial
Authors: Liao Katherine P. , Rist Pamela , Giles Jon , Santacroce Leah , Connelly Margery A. , Glynn Robert J. , Ridker Paul , Tawakol Ahmed , Bathon Joan , Solomon Daniel H. 
Published: June 2024

Abstract
Background
Treatments for rheumatoid arthritis (RA) are associated with complex changes in lipids and lipoproteins that may impact cardiovascular (CV) risk. The objective of this study was to examine lipid and lipoprotein changes associated with two common RA treatment strategies, triple therapy or tumor necrosis factor inhibitor (TNFi), and association with CV risk.

Methods
In this secondary data analysis of the TARGET trial, methotrexate (MTX) inadequate responders with RA were randomized to either add sulfasalazine and hydroxychloroquine (triple therapy), or TNFi for 24-weeks. The primary trial outcome was the change in arterial inflammation measured in the carotid arteries or aorta by FDG-PET/CT at baseline and 24-weeks; this change was described as the target-to-background ratio (TBR) in the most diseased segment (MDS). Routine lipids and advanced lipoproteins were measured at baseline and 24-weeks; subjects on statin therapy at baseline were excluded. Comparisons between baseline and follow-up lipid measurements were performed within and across treatment arms, as well as change in lipids and change in MDS-TBR.

Results
We studied 122 participants, 61 in each treatment arm, with median age 57 years, 76% female, and 1.5 year median RA disease duration. When comparing treatment arms, triple therapy had on average a larger reduction in triglycerides (15.9 mg/dL, p = 0.01), total cholesterol to HDL-C ratio (0.29, p-value = 0.01), and LDL particle number (111.2, p = 0.02) compared to TNFi. TNFi had on average a larger increase in HDL particle number (1.6umol/L, p = 0.006). We observed no correlation between change in lipid measurements and change in MDS-TBR within and across treatment arms.

Conclusions
Both treatment strategies were associated with improved lipid profiles via changes in different lipids and lipoproteins. These effects had no correlation with change in CV risk as measured by vascular inflammation by FDG-PET/CT.

Trial registration
ClinicalTrials.gov ID NCT02374021.
Use of xylosidase 3C from Segatella baroniae to discriminate xylan non-reducing terminus substitution characteristics
Authors: St John Franz J. , Bynum Loreen , Tauscheck Dante A. , Crooks Casey 
Published: June 2024

Abstract
Objective
New characterized carbohydrate-active enzymes are needed for use as tools to discriminate complex carbohydrate structural features. Fungal glycoside hydrolase family 3 (GH3) β-xylosidases have been shown to be useful for the structural elucidation of glucuronic acid (GlcA) and arabinofuranose (Araf) substituted oligoxylosides. A homolog of these GH3 fungal enzymes from the bacterium Segatella baroniae (basonym Prevotella bryantii), Xyl3C, has been previously characterized, but those studies did not address important functional specificity features. In an interest to utilize this enzyme for laboratory methods intended to discriminate the structure of the non-reducing terminus of substituted xylooligosaccharides, we have further characterized this GH3 xylosidase.

Results
In addition to verification of basic functional characteristics of this xylosidase we have determined its mode of action as it relates to non-reducing end xylose release from GlcA and Araf substituted oligoxylosides. Xyl3C cleaves xylose from the non-reducing terminus of β-1,4-xylan until occurrence of a penultimate substituted xylose. If this substitution is O2 linked, then Xyl3C removes the non-reducing xylose to leave the substituted xylose as the new non-reducing terminus. However, if the substitution is O3 linked, Xyl3C does not hydrolyze, thus leaving the substitution one-xylose (penultimate) from the non-reducing terminus. Hence, Xyl3C enables discrimination between O2 and O3 linked substitutions on the xylose penultimate to the non-reducing end. These findings are contrasted using a homologous enzyme also from S. baroniae, Xyl3B, which is found to yield a penultimate substituted nonreducing terminus regardless of which GlcA or Araf substitution exists.
Onco@home: comparing the costs and reimbursement of cancer treatment at home with the standard of care
Authors: Misplon Sarah , Marneffe Wim , Missiaen Jana , Myny Dries , Decock Inge , Lervant Steve , Vaneygen Koen 
Published: June 2024

Abstract
Background
Oncological home hospitalization (HH) was implemented in a Belgian context to evaluate the feasibility of oncological HH. In a first HH model (HH1), implemented by three Belgian hospitals, two home nursing organizations and a grouping of independent nurses, the blood draw and monitoring prior to intravenous therapy was performed by a trained home nurse at the patient’s home the day before the visit to the day hospital. In a second HH model (HH2), implemented in one hospital, the administration of two subcutaneous treatments (Azacitidine and Bortezomib) for myelodysplastic syndrome and multiple myeloma were provided at home instead of in the hospital. A previous study on this pilot showed that oncological HH is feasible and safe and improves the Quality of Life. The aim of this study is to investigate the cost and reimbursement of cancer treatment in these two HH models compared to the Standard of Care (SOC).

Methods
A bottom-up micro-costing study was conducted to compare the costs and revenues for the providers (hospitals and home care organizations) of the SOC and the HH models.

Results
Costs associated to HH were higher than the SOC in the hospital. Comparing revenues with costs, the research revealed that the reimbursement from the National Health Insurance of HH for oncological patients is insufficient. In HH1, costs were higher than in the SOC (+ €50.4). There was a reduction in costs in the hospital by moving the blood draw to the home setting (-€23.9), but the costs in home care were higher (+ €74.3). The extra revenues in home care (+ €33.6) were insufficient to cover the costs. The cost difference between the SOC and HH2 (+ €9.5 for Azacetidine) was smaller than in HH1. But, there was almost no funding for subcutaneous administration in home care. If the product is administered in a day hospital, the hospital receives a revenue of €124 per administration, while in home care the funding is €5 per visit.

Conclusion
Costs of HH are higher and the reimbursement from Belgian NHI is insufficient to organize HH. As a result, HH for oncology patient is still limited in Belgium.
Maladaptive exercise in eating disorders: lifetime and current impact on mental health and treatment seeking
Authors: Liao Zhenxin , Birgegård Andreas , Monell Elin , Borg Stina , Bulik Cynthia M , Mantilla Emma Forsén 
Published: June 2024

Abstract
Background
Many patients with eating disorders report exercise as a central symptom of their illness—as a way to compensate for food intake, prevent weight-gain, and/or reduce negative affect. Previous findings show associations between maladaptive exercise and more severe eating disorder pathology, higher risk for relapse, other co-morbid symptoms, and worse treatment outcome.

Methods
In this study, we included 8252 participants with eating disorders and investigated associations between maladaptive exercise (both lifetime and current) and ED pathology, illness duration, depression, anxiety, self-harm and suicidal ideation, and treatment seeking patterns in individuals with lifetime maladaptive exercise. Participants were included via the Swedish site of the large global study The Eating Disorders Genetics Initiative (EDGI) and completed measures of both lifetime and current symptomatology.

Results
Results indicate that lifetime maladaptive exercise is associated with higher prevalence of lifetime depression and anxiety and with patients more often receiving treatment, although these results need to be investigated in future studies. Current maladaptive exercise was associated with more severe ED symptoms, and higher levels of depression, anxiety, obsessive-compulsive traits, and suicidal ideation.

Conclusions
Our findings point to the complexities of exercise as an eating disorder symptom and the need for clearly assessing and acknowledging this, as well as tailoring interventions to treat this symptom to achieve sustainable recovery.