bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ventilator-associated lower respiratory tract infections and bacteremia in medical and surgical critical care patients colonized by multidrug-resistant bacteria
Authors: Torres Ignacio , Ferrer Josep , Colomina Javier , Clari María Ángeles , Olea Beatriz , Giménez Estela , Albert Eliseo , Sánchez-Jordán Pablo , Aguilar Gerardo , Carbonell Nieves , Navarro David 
Published: October 2024

Abstract

Purpose: We investigated the risk of bloodstream infections (BSI) and ventilator-associated lower respiratory tract (LRT) infections, including pneumonia (VAP) and tracheobronchitis (VAT), due to multidrug-resistant bacteria (MDRB) in colonized critical care patients attended in the medical intensive care unit (MICU) and surgical critical care unit (SCCU).
Methods: Observational, unicentric study including 573 consecutive adult patients (median age of 66 years; range, 18-85 years) and comprising a total of 585 admissions. Universal MDRB screening cultures (from nasal, pharyngeal, rectal, and axillary sites) were regularly performed. Blood cultures and (semi)quantitative cultures of endotracheal or bronchoscopic specimens were performed and interpreted following consensus guidelines.
Results: Colonization by MDRB was documented in 201 out of 585 admissions (34.4%), in which 261 MDRB were isolated, most frequently extended-spectrum beta-lactamase (ESBL)-producing Enterobacterales (n=102) followed by MDR-S. maltophilia (n=45), carbapenemase-producing Enterobacterales (n=40), MDR-Gram-positive bacteria (n=35), and MDR-P. aeruginosa (n=28). There were 21 MDRB BSI, mostly caused by Gram-negative bacteria (95.8%). Colonization by MDRB was independently associated with subsequent MDRB BSI (HR14.1; 95% CI, 3.29-60.65 P<0.001). MDRB were recovered in 157/430 admissions requiring invasive mechanical ventilation (36.5%) and there were 25 episodes of ventilator-associated LRT infections due to MDRB, mostly MDR-Gram-negative bacteria. Colonization by MDRB was independently associated with subsequent MDRB LRT infections (HR, 6.59; 95% CI, 2.67-16.26; P<0.001).
Conclusion: MDRB colonization is a significant risk factor for the occurrence of MRDB-matched invasive infections in a mixed cohort of MICU and SCCU patients. MDRB screening cultures using a multi-site sampling approach may be useful for tailoring empirical antimicrobial treatments on an individual basis.
Effective Lumbar Facet Joint Cyst Treatment with Biportal Endoscopic Spine Surgery: a Rare Case Report
Authors: Hardiansyah Nicko Perdana , Randy Randy 
Published: October 2024

Abstract

Introduction: Facet joint cyst (FJC) are rare, benign lesions that most commonly affect the lumbar region. They are frequently associated with degenerative changes or instability in the spine. FJC often asymptomatic, but in some cases may cause significant neurological symptoms by compressing nearby neural structures causing lumbar spinal stenosis and lumbar foraminal stenosis, resulting in back pain, radicular pain, and neurological deficit. Surgical intervention, including minimally invasive approaches, is often required in symptomatic cases where conservative treatments fail. Case Presentation: A 64-year-old female presented with severe low back pain and left leg radicular pain for three months, unrelieved by conservative treatment. Her pain was rated 7–8 on Visual Analog Scale (VAS), and she exhibited neurological deficits with a high Owestry Disability Index (ODI) of 84%. MRI revealed lumbar FJC at L5-S1 causing severe spinal stenosis. Biportal endoscopic spine surgery (BESS) cyst decompression and resection were performed. Postoperatively, the patient experienced significant pain relief and improved function. At one-year follow-up, the patient was pain-free, with no recurrence or complications. Discussion: FJC, though uncommon, can cause significant neurological symptoms when compressing nerve structures. Surgical management is often required for symptomatic cses, with BESS offering a minimally invasive option. This case showed excellent outcomes with no recurrence, aligning with similar reports in the literature. However, further studies are needed to assess long-term efficacy and recurrence rates. Conclusion: BESS provides a safe and effective approach for treating Lumbar Facet Joint Cysts, offering symptomatic relief and functional recovery in patients resistant to conservative treatment. Further research is warranted to validate ling-term outcomes.
Effects of bread fortification with pomegranate peel powder on inflammation biomarkers, oxidative stress, and mood status in patients with type 2 diabetes: A randomized placebo-controlled trial
Authors: Zare Maryam , Tarrahi Mohammad Javad , Sadeghi Omid , Karimifar Mozhgan , Goli Amir Hossein , Amani Reza 
Published: October 2024

Abstract

Background: To assess the effects of bread fortified with pomegranate peel powder (PPP) on inflammation, oxidative stress, and mood indices in patients with type 2 diabetes mellitus (T2DM).
Methods: In total, 90 T2DM patients were randomized to receive either bread fortified with 3.5% pomegranate peel powder (PPP) (n=45) or PPP-free bread for 12 weeks. Dietary intake throughout the trial was assessed via food records. Laboratory parameters, including total antioxidant capacity (TAC), malondialdehyde (MDA), high-sensitivity C-reactive protein (hs-CRP), and psychological disorders, including depression, anxiety, and stress, were assessed at the beginning and end of the study.
Results: 77 diabetic patients completed the trial (PPP group = 39 and control group = 38). Based on the compliance assessment, adherence to the interventions was high in the trial. We detected significant reductions in hs-CRP levels (intervention group: change = -0.56 ± 1.29, P=0.01; control group: change = -0.81± 1.16, p<0.001) and depression scores (intervention group: change= -1.33 ± 3.66, P=0.04; control group): -1.44 ± 2.83, p=0.01). There was no significant difference between the groups. After adjusting for confounding factors, the significant effect within the group disappeared. Other variables, including MDA, TAC, anxiety, and stress, did not significantly change in the PPP-fortified bread group.
Conclusion: While intake of PPP-fortified bread for 12 weeks did not significantly affect oxidative stress, hs-CRP, or mental health in T2DM patients, some positive outcomes related to inflammatory and mood states should be explored.
Trial registration Iranian Registry of Clinical Trials: The trial was registered in the Iranian Registry of Clinical Trials (available at www.irct.ir, with ID: IRCT20191209045672N1) on 21/09/2020.
Single-slice MRI for body composition assessment: repeatability, reproducibility, and observer variability
Authors: Nowak Magdalena , Núñez Luis , Hill Charles Edward , Davis Tom , Cardiel Luis Felipe , Schooler Gary , Mermekli Asimenia , Salvati Roberto , Brears Helena Thomaides , Pansini Michele , Robson Matthew David 
Published: October 2024

Abstract

Purpose
The single-slice MRI at L3 vertebra offers an efficient way to assess body composition but the evidence on the reliability of this method is scarce. This study evaluates the accuracy and precision of this method for adipose and muscle tissue measurements.
Methods
The technical performance of single-slice (L3) MRI body composition measurements was assessed in a prospective study of 12 participants, focusing on scan-rescan repeatability, cross-scanner reproducibility, and analyst variability. Additionally, retrospective data from 36 participants were analyzed to evaluate inter-device and inter-observer (analyst vs. radiologist) variability across a wide range of scanners and body types. Blinded analyses were performed for visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) cross-sectional areas (CSA), VAT and SAT indices, VAT/SAT ratio, skeletal muscle CSA, skeletal muscle index (SMI), psoas muscle CSA, and psoas muscle index.
Results
Single-slice MRI-based body composition measurements showed high scan-rescan repeatability (CoV: 1.5%–7.9%, ICC: 0.97–1.0), with low repeatability coefficients (RC) across key metrics, including 12 cm2 for SAT CSA, 15 cm2 for VAT CSA, 5 cm2 for skeletal muscle CSA, and 1.4 cm2 for psoas muscle CSA. Cross-scanner reproducibility was consistent (CoV: 2.3%–15%, ICC: 0.90–1.0). Inter- and intra-analyst variability was minimal (CoV: 0.5%–5.0%, ICC: 0.98–1.0). Analyst-radiologist comparisons showed near-perfect correlations (r = 0.97–1.00, p < 0.001) and excellent reliability (ICC: 0.96–1.0).
Conclusion
The results demonstrate that MRI-based single-slice method at the L3 vertebral level provides accurate, repeatable, and reproducible measurements of adipose and muscle tissue across a wide range of body types, consistent between trained analysts and experienced radiologists. These findings support the method’s accuracy and consistency for longitudinal assessments.
The PLOD2 promotes tumor progression in colorectal cancer through the PI3K-AKT pathway
Authors: Chen Dezhen , Zhang Mili , Zhou Yuxuan , Zhu Haiqiang , Deng Zhongquan , Li Ouxuan , Zhou Yuan 
Published: October 2024

Abstract

Based on reports, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 2 (PLOD2) constitutes an oncogenic gene that undergoes upregulation in multiple malignancies, encompassing cervical cancer, endometrial cancer, and lung cancer. PLOD2 is competent to stiffen the extracellular matrix and modify the ECM architecture. Despite the fact that PLOD2 has been demonstrated to be associated with an unfavorable prognosis in colorectal cancer (CRC), the regulatory mechanism and functionality of PLOD2 in human colorectal cancer remain enigmatic. In this investigation, we validated the elevated expression of PLOD2 in human CRC tissue and its correlation with tumor pathological staging. Concurrently, we discerned through public databases that the expression of PLOD2 is interrelated with patient prognosis. Furthermore, functional experiments have manifested that PLOD2 facilitates CRC cell metastasis and proliferation via the PI3K-AKT pathway and predicts the potential binding of compounds to its protein.
Gonadotropin-Releasing Hormone Analogue Treatment: Differentiating Effects on Body Mass Index in Normal-Weight, Overweight, and Obese Girls
Authors: Thaneetrakool Thanaporn , Aroonparkmongkol Suphab , Numsriskulrat Nattakarn , Supornsilchai Vichit , Wacharasindhu Suttipong , Srilancha Khomsak 
Published: October 2024

Abstract

Introduction: Weight gain and BMI changes are concerns while treating central precocious puberty (CPP) with gonadotropin-releasing hormone agonist (GnRHa). This study investigates BMI changes with GnRHa treatment in idiopathic CPP girls of normal, overweight, and obese weight.
Method: This study collected data from 188 girls with idiopathic CPP who received GnRHa therapy. BMI changes were analyzed during the treatment period, with participants stratified based on their baseline BMI status: normal weight (BMI < 1 SDS), overweight (BMI ≥ 1 SDS), and obese (BMI ≥ 2 SDS).
Results: Obesity and overweight were prevalent, observed in 24.5% and 14.9% of the cases, respectively. The BMI-SDS of the normal-weight group increased significantly during the treatment period at the beginning of treatment, 12-months after treatment, and the end of treatment (0.01 ± 0.7, 0.23 ± 0.9, and 0.37 ± 1.0, P < 0.05). However, no significant changes in BMI-SDS were noted in the overweight and obese groups during the treatment period.
Conclusion: The findings of our study indicate that the variations in BMI alterations observed in our CPP patients imply that the impact of GnRHa treatment-induced delayed puberty on linear growth may differ based on the initial body composition.
Pregnancy in a Chinese woman with nonclassical 11β-hydroxylase deficiency caused by novel compound heterozygous mutations: a case report, literature review and functional validation
Authors: Yang Yuhong , Gao Maoting , Wu Wei , Sun Min , Wang Zhixiao 
Published: October 2024

Abstract

Background
Congenital adrenocortical hyperplasia caused by 11β-hydroxylase deficiency (11β-OHD) due to CYP11B1 mutations in 46,XX patients is typically characterized by hyporeninemic hypokalemia hypertension, virilization, precocious pseudopuberty, accelerated skeletal maturation and short stature. Impaired fertility has been reported in the virilizing 11β-OHD form unless properly treated.
Case presentation:
A 35-year-old female patient with nonclassical 11β-OHD due to novel compound heterozygous mutations (V316M; C262_F264del) in CYP11B1 suffered from menstrual irregularities, infertility, hirsutism and low-renin hypertension with typical hormone profiles including an elevated 11-deoxycorticosterone and testosterone. Her reduced fertility recovered after the initiation of corticosteroid therapy, and conception was later successfully achieved by in vitro fertilization and frozen-thawed embryo transfer. Functional characterization of CYP11B1 V316M and C262_F264del mutations in human adrenocortical cells confirmed 7%-16% of residual enzyme activity (V316M: 11.5% ± 2.4%; C262_F264del: 7.8% ± 2.9%; V316M; C262_F264del: 16.5% ± 0.6%).
Conclusions
We reported a successful pregnancy in a female patient with nonclassical 11β-OHD due to compound heterozygosity of novel CYP11B1 mutations by in vitro fertilization. The close coordination of care by a multidisciplinary medical team is beneficial for patients with congenital adrenocortical hyperplasia to achieve an accurate diagnosis, proper fertility management and uneventful pregnancy.
Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
Authors: Aspromonte Maria Cristina , Conte Alessio Del , Polli Roberta , Baldo Demetrio , Benedicenti Francesco , Bettella Elisa , Bigoni Stefania , Boni Stefania , Ciaccio Claudia , D’Arrigo Stefano , Donati Ilaria , Granocchio Elisa , Mammi Isabella , Milani Donatella , Negrin Susanna , Nosadini Margherita , Soli Fiorenza , Stanzial Franco , Turolla Licia , Piovesan Damiano , Tosatto Silvio C.E. , Murgia Alessandra , Leonardi Emanuela 
Published: October 2024

Abstract

Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a dataset curated for the Critical Assessment of Genome Interpretation (CAGI6) ID Panel Challenge. The CAGI6 competition serves as a platform for evaluating the efficacy of computational methods in predicting phenotypic outcomes from genetic data.
In this study, a targeted gene panel sequencing has been used to investigate the genetic causes of NDDs in a cohort of 415 paediatric patients. We identified 60 pathogenic/likely pathogenic and 49 variants of Uncertain Significance (VUSs) in 102 individuals that accounted for 25% of NDD cases in the cohort. The most mutated genes were ANKRD11, MECP2, ARID1B, ASH1L, CHD8, KDM5C, MED12 and PTCHD1 The majority of pathogenic variants were de novo, with some inherited from mildly affected parents. Loss-of-function variants were the most common type of pathogenic variant. In silicoanalysis tools were used to assess the potential impact of variants on splicing and structural/functional effects of missense variants. The study highlights the challenges in variant interpretation especially in cases with atypical phenotypic manifestations. Overall, this study provides further insights into the genetic causes of NDDs and emphasises the importance of understanding the underlying genetic factors for accurate diagnosis, and intervention development in neurodevelopmental conditions.
Decoding Hashimoto’s Thyroiditis: Key Genes and Pathways in Inflammation and Pyroptosis
Authors: Sun Baihui , Ding Ruoting , Tan Jie , Yu Shitong , Ge Junna , Wei Zhigang , Lei Shangtong , Li Guoxin 
Published: October 2024

Abstract

Purpose Inflammation is recognized as a hallmark of Hashimoto’s thyroiditis (HT). Although inflammation is an important pathogenic factor that leads to thyroid follicular epithelial cell injury after HT, anti-inflammatory treatments remain controversial in the management of HT. Moreover, the molecular signatures involved in the pathophysiological changes that occur during the course of HT remain ambiguous.Methods The current study investigated the genes and pathways involved in HT by transcriptome sequencing analysis. Furthermore, western blot assays, ELISA and immunohistochemical staining were conducted to validate the expression levels of dysregulated proteins.Results HT was found to be associated with the enrichment of genes related to the inflammatory response, pyroptosis, and regulation of the lipid metabolic process. Further analysis revealed that genes associated with the interleukin (IL)-18 signaling pathway and the NLRP3 inflammasome were upregulated, and the expression levels of the IL-18, NLRP3, and APOC1 proteins were increased.Conclusion The transcriptome data obtained from HT patient samples revealed notable genes and pathways that may be novel therapeutic targets for the treatment of HT.
Melphalan-Based Conditioning with Post-Transplant Cyclophosphamide for Peripheral Blood Stem Cell Transplantation: Donor Effect
Authors: Malki Monzr Al , Koller Paul , Othman Tamer , Yang Dongyun , Mokhtari Sally , Samara Yazeed , Blackmon Amanda , Agrawal Vaibhav , Pourhassan Hoda , Ball Brian , Amanam Idoroenyi , Arslan Shukaib , Otoukesh Salman , Sandhu Karamjeet , Aldoss Ibrahim , Ali Haris , Salhotra Amandeep , Aribi Ahmed , Artz Andrew , Becker Pamela , Pullarkat Vinod , Stewart Forrest , Smith Eileen , Stein Anthony , Marcucci Guido , Forman Stephen , Nakamura Ryotaro 
Published: October 2024

Abstract

Fludarabine and melphalan (FM) conditioning offers effective disease control with an acceptable toxicity profile. Post-transplant cyclophosphamide (PTCy) for graft-versus-host disease (GVHD) prophylaxis has improved transplant outcomes. We retrospectively reviewed patients receiving FM-based transplants with PTCy at City of Hope. Of 248 patients included, 89 (35.9%) received hematopoietic cell transplant (HCT) from a matched related/unrelated donor (MRD/MUD), 118 (47.6%) from a haploidentical (HID) donor, and 49 (19.8%) from a mismatched unrelated donor (MMUD). There were no differences in acute and chronic GVHD based on donor type. The 2-year overall survival (OS) for patients receiving HID, MMUD, and MRD/MUD was 58%, 55%, and 70%; disease-free survival (DFS) was 52%, 48%, and 66%; and graft-versus-host/relapse-free survival (GRFS) were 48%, 40%, and 59%, respectively. OS, DFS, and GRFS were similar regardless of donor type on multivariable analysis. However, donor age ≥ 35 years was associated with lower OS and GRFS and higher 2-year non-relapse mortality (NRM) on multivariable analysis across all patients, regardless of donor type. FM with PTCy appears to produce similar outcomes between MRD/MUD, MMUD, and HID when adjusting for donors < 35 years, and donor age seems to be the most important factor when selecting a donor with this regimen.
Dynamics of color vision recovery in Vogt-Koyanagi-Harada disease: A longitudinal study using cone contrast test and adaptive optics imaging
Authors: Nakamura Tomoko , Abe Shinya , Yamazaki Hitoshi , Oiwake Toshihiko , Hayashi Atsushi 
Published: October 2024

Abstract

Background: Vogt-Koyanagi-Harada (VKH) disease affects visual function, but the recovery process of color vision remains incompletely understood. This study aimed to assess color vision recovery in VKH using cone contrast testing and explore its relationship with cone cell density measured using adaptive optics imaging.
Methods: Twenty-two eyes of 11 patients with VKH were evaluated at baseline (serous retinal detachment resolution) and at 3, 6, and 12 months post-treatment. Cone contrast scores and cone cell density were measured using the ColorDx® CCT-HD™ system and rtx1™ adaptive optics fundus camera, respectively. Pre-treatment optical coherence tomography (OCT) was used to analyze the cystoid spaces.
Results: Color vision defects observed at baseline—especially in S-cones—significantly improved by 6 months for all cone types. Cone contrast scores correlated significantly with cone cell density (ρ=0.63–0.66, p<0.0001). Eyes with cystoid spaces on pre-treatment OCT showed lower cone contrast scores and cone density. S-cones demonstrated greater vulnerability and slower recovery than L- and M-cones.
Conclusion: This study emphasizes the importance of comprehensive visual function assessment, including color vision evaluation, in VKH patients. Cone contrast testing captures qualitative aspects of visual function not reflected in standard acuity tests. The combination of cone contrast testing and adaptive optics imaging provides insights into the structure-function relationship in color vision recovery.
Role of consolidative surgery after chemotherapy in recurrent/metastatic adrenal cortical cancer (ACC): Princess Margaret Cancer Center Experience
Authors: Mittal Abhenil , Amer Lama , Ayodele Olubukola , Radi Suhaib , Li Xuan , Araujo Daniel Vilarim , Malone Eoghan Ruadh , Al-Ezzi Esmail Mutahar , Pasternak Jesse , Mete Ozgur , Jiang Di Maria , Kumar Vikaash , Joshua Anthony , Ezzat Shereen , Hansen Aaron Richard 
Published: October 2024

Abstract

Background
Metastatic ACC is aggressive with few effective treatment options. It is unclear if surgery after chemotherapy impacts survival in recurrent/metastatic (R/M) ACC. Moreover, prognostic factors in R/M ACC are not well defined.
Methods
R/M ACC patients treated at Princess Margaret Cancer Center (2002–2019) were retrospectively reviewed. Descriptive statistics were used to summarize clinical characteristics. OS was estimated by Kaplan-Meier method. Cox regression analysis was used to compute prognostic variables.
Results
Among 83 patients with metastatic ACC [36.2% de novo and 63.8% recurrent], 49 (59.0%) received systemic therapy (ST) with which 15 (30.6%) had a partial response (PR) and 8 (16.3%) had stable disease (SD). 9 (18.4%) had surgery after ST (combined therapy group); 6 (66.6%) were rendered disease free with surgery. The median OS was 26 months (20.4–40.5) for entire cohort (f/up 18 months) with trend for better OS in patients having combined therapy (31.2 (21.4–63.3) vs 24.7 months (17.7–35.2), p = 0.48]. Being disease free after surgery was associated with better OS [39.6 (24.8-NR), vs 23.5 months (21.4-NR), p = 0.02].
Conclusions
Selected patients with R/M ACC may benefit from surgery after chemotherapy. These data highlight the potential role for multimodal therapy in managing such patients.
Implications for Practice:
Chemotherapy remains the standard of care in advanced adrenal cortical carcinoma (ACC). However, the response to chemotherapy remains suboptimal and overall outcomes for these patients remains poor. The role of surgery for patients with advanced ACC remains uncertain. In a large cohort of patients treated at a large referral center in Canada, we observed that selected patients with advanced ACC may benefit from surgery after chemotherapy. This is especially true if surgery can lead to resection of all macroscopic disease. Based on this data, such approach can be individualised after discussion in multidisciplinary tumor boards