bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare occurrence of pulmonary coinfection involving Aspergillus fumigatus and Nocardia cyriacigeorgica in immunocompetent patients based on NGS: A case report and literature review
Authors: Ye Jiaqing , Li Yahua , Hao Jiahao , Song Minghui , Guo Yumei , Gao Weili , Zheng Cuiying , Huang Yinqi , Feng Zhongjun , Zhang Lijie 
Published: December 2023

Rationale:
In our search on PubMed, we found that reports of co-infections involving Aspergillus fumigatus and Nocardia cyriacigeorgica in the literature are notably scarce. Most cases have been documented in patients with compromised immune systems or underlying pulmonary conditions. In contrast, our patient did not present with any of these risk factors. Furthermore, there have been no recent incidents such as near-drowning or other accidents in the patient history. To the best of our knowledge, this case represents a hitherto unreported clinical scenario. To enhance comprehension, we conducted a comprehensive literature review by compiling a total of 20 case reports (spanning from 1984 to 2023) on co-infections involving Aspergillus and Nocardia species, retrieved from PubMed.

Patient concerns and diagnosis:
Chest CT revealed the presence of multiple nodules and clustered high-density shadows in both lungs. Bronchoscopy revealed mucosal congestion and edema in the apical segment of the right upper lobe of the lung, along with the presence of 2 spherical polypoid new organisms. The pathological analysis reported severe chronic inflammation with evidence of Aspergillus within the tissue. Next-Generation Sequencing of bronchoalveolar lavage fluid revealed the presence of reads corresponding to A fumigatus and N cyriacigeorgica. Positive cultures for A fumigatus and the Nocardia genus were yielded by prolonging the incubation of samples in the microbiology laboratory.

Interventions:
Treatment with voriconazole for A fumigatus and sulfamethoxazole-trimethoprim for N cyriacigeorgica infection was given.

Outcomes:
The patient improved and was discharged. After 6 months of telephone follow-up, the patient reported no clinical symptoms, discontinued the medication on his own.

Lessons:

A fumigatus and N cyriacigeorgica can manifest as a co-infection in immunocompetent patients. Clinicians should prioritize the significant advantages and value of NGS in detecting rare and mixed pathogens associated with pulmonary infections.
Iron Overload in Children With Leukemia; Identification of a Cutoff Value for Serum Ferritin Level
Authors: Zekavat Omid Reza , Fallah Tafti Farima , Bordbar Mohammadreza , Parand Shirin , Haghpanah Sezaneh 
Published: December 2023

Objective:
To determine the prevalence of iron overload in children with acute lymphoblastic leukemia (ALL) after treatment cessation and establish a cutoff value for serum ferritin level as an indicator of iron overload.

Background:
Early detection and monitoring of iron overload in patients with leukemia is crucial.

Methods:
In this prospective cohort study, 66 pediatric patients with ALL who were treated at a tertiary referral center affiliated with Shiraz University of Medical Sciences in Shiraz, Southern Iran, were investigated from July 2020 to December 2022. Serum ferritin levels were measured 6 months after treatment completion. T2* magnetic resonance imaging of the liver and heart was done for all patients. The receiver operating characteristic curve was used to illustrate the area under the receiver operating characteristic curve to assess the diagnostic value of serum ferritin level and total transfusion volume.

Results:
A total of 24 patients (36.4%) had iron overload in the heart or liver based on T2 magnetic resonance imaging findings. Serum ferritin level was a highly accurate diagnostic marker for iron overload in pediatric patients with ALL, with a sensitivity of 95.8%, and specificity of 85.7% for a cutoff value of 238.5 ng/mL. Also, blood transfusion was a good predictor of iron overload a sensitivity of 75% and specificity of 81% for a cutoff value of 28.3 mL/kg.

Conclusion:
We identified specific cutoff values for serum ferritin and blood transfusion volume to predict iron overload with high sensitivity and specificity. These markers offer a cost-effective and accessible approach for periodic screening of iron deposition, particularly in resource-constrained settings.
Concordance of human papillomavirus genotypes in mailed home-based self-collected versus clinician-collected anal swabs among sexual and gender minority individuals
Authors: Nitkowski Jenna , Giuliano Anna R. , Ridolfi Tim , Chiao Elizabeth , Fernandez Maria E. , Schick Vanessa , Swartz Michael D. , Smith Jennifer S. , Nyitray Alan G. 
Published: December 2023

Abstract

Background
Home-based self-sampling may be a viable option for anal cancer screening among sexual minority men (SMM). Yet limited research has compared home-based self-collected with clinician-collected anal swabs for human papillomavirus (HPV) genotyping.

Methods
The Prevent Anal Cancer Self-Swab Study recruited SMM and transgender persons 25 years and over in Milwaukee, Wisconsin, USA to participate in an anal cancer screening study. Participants were randomized to a home or clinic arm. Home-based participants were mailed an anal self-sampling kit to complete and return via postal mail. They were also asked to attend a clinic appointment where a clinician collected an anal swab. Swabs were HPV-genotyped using the SPF10-LiPA25 assay. We analyzed 79 paired self and clinician swabs to determine HPV prevalence, percent agreement, and sensitivity and specificity of the mailed home-based anal self-swab to detect HPV genotypes using the clinician-collected swab as the reference.

Results
The median number of days between the home and clinic swab was 19 days (range = 2 to 70). HPV was detected in 73.3% of self and 75.0% of clinician anal swabs (p = .99). Prevalence of any HPV, any high-risk HPV, any low-risk HPV, and individual HPV types did not significantly differ between self and clinician anal swabs. Agreement between self and clinician swabs was over 90% for 21 of the 25 HPV genotypes. Mailed home-based self-collected swabs had a sensitivity of 94.1% (95% CI: 82.9 – 99.0) for detection of high-risk HPV versus clinician-collected sampling.

Conclusions
Mailed home-based self-collected and clinician-collected anal swabs demonstrated high concordance for HPV genotyping.
Unmet Needs for HIV Ancillary Services Among Persons With Diagnosed HIV Aged 55 years and Older
Authors: Byrd Kathy K. , Buchacz Kate , Crim Stacy M. , Beer Linda , Lu Jen-Feng , Dasgupta Sharoda 
Published: December 2023

Background:
Approximately 2 in 5 persons with HIV (PWH) in the United States are aged 55 years or older. HIV ancillary services, such as case management and transportation services, can help older PWH remain engaged in care. We used data from the Medical Monitoring Project (MMP) to describe the prevalence of unmet needs for ancillary services among persons with diagnosed HIV aged 55 years or older.

Setting:
MMP is an annual cross-sectional study that reports representative estimates on adults with diagnosed HIV in the United States.

Methods:
We used MMP data collected during June 2019–May 2021 to calculate weighted percentages of cisgender men and cisgender women with HIV aged 55 years or older with unmet needs for ancillary services, overall and by selected characteristics (N = 3200). Unmet need was defined as needing but not receiving a given ancillary service. We assessed differences between groups using prevalence ratios (PRs) and 95% confidence intervals with predicted marginal means.

Results:
Overall, 37.7% of cisgender men and women with HIV aged 55 years or older had ≥1 unmet need for ancillary services. Overall, 16.6% had ≥1 unmet need for HIV support services, 26.9% for non-HIV medical services, and 26.7% for subsistence services. There were no statistically significant differences in unmet needs for services by gender. The prevalence of ≥1 unmet need was higher among non-White persons (PR range: 1.35–1.63), persons who experienced housing instability (PR = 1.70), and those without any private insurance (PR range: 1.49–1.83).

Conclusion:
A large percentage of older PWH have unmet needs for ancillary services. Given the challenges that older PWH face related to the interaction of HIV and aging-associated factors, deficits in the provision of ancillary services should be addressed.
Factors Associated With COVID-19 Vaccination Among Racial/Ethnic Minority Groups With HIV in South Florida
Authors: Ramírez-Ortiz Daisy , Jean-Gilles Michele , Sheehan Diana M. , Ladner Robert , Li Tan , Trepka Mary J. 
Published: December 2023

Background:
Racial/ethnic minority groups with HIV in the United States are particularly vulnerable to COVID-19 consequences and can significantly benefit from increased uptake of COVID-19 vaccines. This study identified factors associated with full COVID-19 vaccination among people with HIV.

Setting:
Ryan White HIV/AIDS Program in Miami-Dade County, FL.

Methods:
Data were collected from 299 Ryan White HIV/AIDS Program adult clients during January–March 2022 using a cross-sectional phone survey. Multivariable logistic regression was used to estimate adjusted odds ratios (aORs) with 95% confidence intervals (CIs). All analyses were weighted to be representative of the race/ethnicity and sex distribution of clients in the Ryan White HIV/AIDS Program.

Results:
Eighty-four percent of participants were fully vaccinated with a primary vaccine series; stratified by race/ethnicity, the percentages were 88.9% of Hispanic, 72.0% of black/African American, and 67.5% of Haitian participants. Fully vaccinated participants were less likely to be black/African American than Hispanic (aOR = 0.18; 95% CI: 0.05 to 0.67) and more likely to not endorse any misconceptions about COVID-19 vaccines (aOR = 8.26; 95% CI: 1.38 to 49.64), to report encouragement to get vaccinated from sources of information (aOR = 20.82; 95% CI: 5.84 to 74.14), and to perceive that more than 50% of their social network was vaccinated (aOR = 3.35; 95% CI: 1.04 to 10.71). Experiences of health care discrimination, structural barriers to access vaccines, and recommendations from HIV providers were not associated with full vaccination.

Conclusions:
These findings highlight the importance of delivering accurate and positive messages about vaccines and engaging social networks to promote COVID-19 vaccination among people with HIV. This information can be leveraged to promote uptake of subsequent boosters and other recommended vaccines.
Associations Between Estimates of Arterial Stiffness and Cognitive Functioning in Adults With HIV
Authors: Jones Raymond , Jessee Matthew B. , Booker Robert , Martin Samantha L. , Vance David E. , Fazeli Pariya L. 
Published: December 2023

Background:
Vascular aging, a precursor of arterial stiffness, is associated with neurocognitive impairment (NCI) and cardiovascular disease. Although HIV is associated with rapid vascular aging, it is unknown whether arterial stiffness mediates changes in cognitive function. We explored whether estimated markers of vascular aging were associated with NCI indices in HIV-positive individuals.

Methods:
This study was a secondary analysis of an observational study. Neurocognitive functioning was assessed using a battery of 7 domains (verbal fluency, executive functioning, speed of information processing, attention/working memory, memory [learning and delayed recall], and motor skills). Vascular aging was assessed using estimated markers of arterial stiffness (ie, estimated pulse wave velocity, pulse pressure, and vascular overload index). A multivariable regression adjusted for demographics, cardiovascular disease risk factors, and HIV clinical variables was used to examine the association between vascular aging and NCI outcomes.

Results:
Among 165 people with HIV, the mean age was 51.5 ± 6.9 years (62% men and 83% African American/Black or Other). In fully adjusted models, an increase in estimated pulse wave velocity and pulse pressure was associated with lower T scores in learning (−2.95 [−5.13, −0.77]) and working memory (−2.37 [−4.36, −0.37]), respectively. An increase in vascular overload index was associated with lower T scores in working memory (−2.33 [−4.37, −0.29]) and learning (−1.85 [−3.49, −0.21]).

Conclusions:
Estimated markers of arterial stiffness were weakly associated with neurocognitive functioning, suggesting that vascular aging may have a role in cognitive decline among people with HIV.
The effect of SGLT2 inhibitor on clinical outcomes in patients with type 2 diabetes and atrial fibrillation
Authors: Cho Yongin , Shin Sung-Hee , Park Min-Ae , Suh Young Ju , Park Sojeong , Jang Ji-Hun , Kim Dae-Young , Kim So Hun 
Published: December 2023

BackgroundSodium glucose cotransporter 2 (SGLT2) inhibitors improve clinical outcomes in several populations including type 2 diabetes, chronic renal insufficiency, and heart failure (HF). However, limited data exist on their effects on atrial fibrillation (AF).MethodsWe conducted a retrospective cohort study using the National Health Insurance Service database. A total of 4,771 patients with type 2 diabetes and AF who were newly prescribed SGLT2 inhibitors or DPP4 inhibitors were selected and matched in a 1:2 ratio by propensity score with 37 confounding variables. We assessed the effect of SGLT2 inhibitors on the composite outcome of either HF hospitalization or death compared with DPP4 inhibitors.ResultsOver a median follow-up of 31 months, patients on SGLT2 inhibitors were associated with a lower risk of hospitalizations for HF or mortality compared to those on DPP4 inhibitors (HR 0.61; 95% CI 0.44-0.85; P=0.004). SGLT2 inhibitor use was also associated with a lower risk of mortality (HR 0.61; 95% CI 0.39-0.94; P=0.025) and CV mortality (HR 0.43; 95% CI 0.21-0.86; P=0.018), but not of MI (HR 1.22 [95% CI 0.72-2.09]; P=0.461) or stroke (HR 1.00 [95% CI 0.75-1.33]; P=0.980). The incidence of hospitalizations for HF, although statistically insignificant, tended to be lower in the SGLT2 inhibitor group (HR 0.63 [95% CI 0.39-1.02]; P=0.062).ConclusionIn a nationwide cohort of patients with type 2 diabetes and AF, SGLT2 inhibitor was associated with a lower risk of mortality compared to DPP4 inhibitor, which may suggest that SGLT2 inhibitors may be considered as the first-line antidiabetic medication in patients with type 2 diabetes and AF.
Women empowerment and utilization of HIV testing among couples in Zambia: Evidence from the Zambia Demographic and Health Survey 2018
Authors: Mbele Whiteson , Dako-Gyeke Phyllis , Ndapewa Frans Andreas , Ching Jordanne 
Published: December 2023

AbstractIn Zambia, women are disproportionally more affected by HIV compared to men. This has mainly been attributed to harmful gender norms that enhance male dominance and disempower women, preventing them from exercising their right to negotiate for safe sex and utilizing HIV prevention services such as HIV testing. This study examined associations between women’s empowerment and HIV testing among married and partnered women.We analyzed secondary data from the couple’s recode of the 2018 Zambia demographic and health survey. Univariable and multivariable logistic regression analysis was conducted, and p<0.05 was considered statistically significant. We included a total of 5,328 married and partnered women in the analysis, of which 5057 (94.9%) had undergone an HIV test before. After adjusting for confounders, decision-making was the only independent predictor of HIV testing among measures of empowerment. Women who were highly empowered in decision-making were more likely to have undergone an HIV test compared to those who were lowly empowered (AOR = 2.1; 95% CI: 1.5, 2.9). Women aged 20-29 years (AOR = 2.4; 95% CI: 1.6, 3.6), 30-39 years (AOR = 5.3; 95% CI: 3.4, 8.2), or 40-49 years (AOR = 2.9; 95% CI: 1.9, 4.7), those with primary education (AOR = 2.4; 95% CI: 1.7, 3.4) or secondary and higher (AOR = 4.1; 95% CI: 2.3, 7.2), rich women (AOR = 2.4; 95% CI: 1.5, 3.7) or women with middle wealth (AOR = 1.5; 95% CI: 1.1, 2.2) and those who gave birth in the last 5 years (AOR = 3.3; 95% CI: 2.5, 4.5) were more likely to have been tested for HIV. This study highlights the critical influence of women’s empowerment in decision-making on HIV testing. Additionally, level of education, wealth, age, and having given birth before are essential factors to consider in promoting HIV testing among women in Zambia.
Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
Authors: Fu Maggie P , Sharma Mehul , Merrill Sarah M , Yousefi Pariya , Tan Ryan , Modi Bhavi P , Bel Kate Del , Deyell Rebecca J , Rozmus Jacob , Rehmus Wingfield , Hildebrand Kyla J , James Elliot , Blanchard-Rohner Géraldine , Lin Susan , Shopsowitz Kevin E , Setiadi Audi , Terry Jefferson , Lee Anna F , Drögemöller Britt I , Matthews Allison , Tarailo-Graovac Maja , Sauvé Laura , Mitchell Hana , Prendiville Julie S , MacIsaac Julie L , Dever Kristy , Lin David T S , Meijer Mandy , Ross Colin J D , Dobson Simon R M , Vercauteren Suzanne M , Wasserman Wyeth W , van Karnebeek Clara D M , McKinnon Margaret L , Kobor Michael S , Turvey Stuart E , Biggs Catherine M 
Published: December 2023

ABSTRACTInborn errors of immunity (IEI) are a group of disorders caused by deleterious variants in immune-related genes, including some that function as epigenetic regulators. Additional sex combs-like 1 (ASXL1) is an epigenetic modifier that has not previously been linked to an IEI. SomaticASXL1variants are found in clonal hematopoiesis and hematologic neoplasms, while heterozygous germline variants cause Bohring–Opitz syndrome. We present a new IEI caused by biallelic germline variants inASXL1. The patient had a complex and unusual history of disease progression notable for persistent cutaneous vaccine-strain rubella granulomas initially manifesting in early childhood, chronic macrocytosis and mild bone marrow cellular hypoplasia, and Epstein Barr virus– associated Hodgkin lymphoma in adolescence. Detailed immunophenotyping revealed progressive loss of B-cells, hypogammaglobinemia, and T-cell lymphopenia with severe skewing toward a memory phenotype and elevated expression of T-cell exhaustion and senescence markers. Molecular investigations confirmed ASXL1 protein deficiency in the patient’s T-cells and fibroblasts. The T-cells exhibited marked loss of DNA methylation, increased epigenetic aging, and CD8 T-cell dysfunction. These aberrations were ameliorated by lentivirus-mediated transduction with wild-typeASXL1, confirming the pathogenicity ofASXL1variants. This study defines a novel human IEI caused by ASXL1 deficiency, a diagnosis that should be considered in individuals with chronic viral infections, virus-associated hematologic malignancies, and combined immunodeficiency. Furthermore, our findings provide fresh insights into the mechanisms underlying the roles of human ASXL1 in T-cell function as well as in the development and maintenance of lymphomas.
Harmonic patterns embedding ictal EEG signals in focal epilepsy: new insight into the epileptogenic zone
Authors: Hu Lingli , Ye Lingqi , Ye Hongyi , Liu Xiaochen , Xiong Kai , Zhang Yuanming , Zheng Zhe , Jiang Hongjie , Chen Cong , Wang Zhongjin , Zhou Jiping , Wu Yingcai , Huang Kejie , Zhu Junming , Chen Zhong , Ding Meiping , Yang Dongping , Wang Shuang 
Published: December 2023

AbstractThe EEG biomarkers for identifying epileptogenic zone (EZ) need further refinement. Through time-frequency analysis, we identified a unique ictal spectral structure, referred to as the “harmonic pattern” (H pattern), during seizure onset or propagation in stereo-EEG signals of focal epilepsy patients. The H pattern, observed within specific EEG segments, often appeared simultaneously across different brain regions at a consistent fundamental frequency, highlighting a crucial stage in seizure propagation characterized by inter-regional synchronization. The dominant H pattern, which is identified as those above the third quartile of band numbers, demonstrated greater nonlinearity compared to the non-dominant H pattern, as evidenced by bispectral analysis. The waveforms associated with the dominant H pattern were more stereotyped and showed increased skewness and/or asymmetry. Remarkably, the complete removal of areas exhibiting the dominant H pattern was independently associated with favorable surgical outcomes. The H pattern provides unique insights into ictal neural dynamics and introduces a novel approach for measuring the EZ over an extended time window.Impact statementHu et al. report that this distinct nonlinear spectral feature signifies a stereotyped waveform change and identifies a ‘uniform frequency component’ within the ictal network as a key stage of seizure propagation.
LMNAR644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulationin vitro
Authors: Upadhyay Kapil K. , Du Xiaomeng , Chen Yanhua , Speliotes Elizabeth K. , Brady Graham F. 
Published: December 2023

SummaryThe R644C variant of lamin A is controversial, as it has been linked to multiple phenotypes in familial studies, but has also been identified in apparently healthy volunteers. Here we present data from a large midwestern US cohort showing that this variant associates genetically with hepatic steatosis, and with related traits in additional publicly available datasets, whilein vitrotesting demonstrated that this variant increased cellular lipid droplet accumulation. Taken together, these data support thisLMNAvariant’s potential pathogenicity in lipodystrophy and metabolic liver disease.
Isolating transdiagnostic effects reveals specific genetic profiles in psychiatric disorders
Authors: Keser Engin , Liao Wangjingyi , Allegrini Andrea G. , Rimfeld Kaili , Eley Thalia C. , Plomin Robert , Malanchini Margherita 
Published: December 2023

AbstractEvidence indicates a great degree of genetic overlap between psychiatric diagnoses. Accounting for these transdiagnostic effects can sharpen research on disorder-specific genetic architecture. Here we isolate genetic effects that are shared across 11 major psychiatric disorders (p factor) to gain further insight into genetic specificity and comorbidity over and above that contributed by the p factor, unique to each psychiatric disorder. After adjusting for transdiagnostic genetic effects, we examined genetic correlations among psychiatric traits as well as relationships with other biobehavioural traits. The landscape of genetic associations between pairs of psychiatric disorders changed substantially, and their genetic correlations with biobehavioural traits showed greater specificity. Isolating transdiagnostic genetic effects across major psychiatric disorders provides a nuanced understanding of disorder-specific genetic architecture and genetic comorbidity, and may help guide diagnostic nomenclature and treatment research.