bluuebunny/crossref_metadata_2025_split huggingface dataset:
THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES
Authors: Khan Arif O. 
Published: July 2024

Purpose:
Achromatopsia (ACHM) is a genetically heterogenous relatively stationary congenital autosomal recessive cone disorder characterized typically by photophobia, low vision, nystagmus, hyperopia, grossly normal retinal appearance, and absent photopic responses by full-field electroretinography. Incomplete forms occur as well. This study investigates the genetic basis of clinically suspected ACHM in the United Arab Emirates.

Methods:
Retrospective case series (January 2016–December 2023) of patients with (1) clinically suspected ACHM or (2) mutations in ACHM-associated genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, AT6).

Results:
Twenty-two clinically suspected patients (19 probands) were identified. Biallelic disease genes and the number of probands were CNGA3 (9), CNGB3 (6), PDE6C (1), GNAT2 (1), RGS9BP (1), and CNNM4 (1). Some mutant alleles were recurrent across different families. Two probands had their diagnoses revised after genetic testing and phenotypic reassessment to RGS9BP-related bradyopsia and CNNM4-related Jalili syndrome. Three additional cases (making 22 total probands) were identified from ACHM gene mutation review—one each related to PDE6C, to AT6, and to CNGB3 in concert with CNGA3 (triallelic disease). All three presented with macular discoloration, an atypical finding for classic ACHM.

Conclusion:

CNGA3 was the single most frequent implicated gene. Bradyopsia and Jalili syndrome can resemble incomplete ACHM. Recurrent mutant alleles may represent founder effects. Macular discoloration on presentation can occur in PDE6C-related disease, AT6-related disease, and triallelic CNGB3/CNGA3-related disease. The possibility for triallelic disease exists and requires genetic counseling beyond that of simple autosomal recessive inheritance.
Ozaki technique versus Ross operation for complex aortic valve diseases in children: a retrospective cohort study
Authors: Wang Guan-Xi , Zhang Sen , Ma Kai , Pang Kun-Jing , Wang Xu , Yang Ke-Ming , Zhang Ben-Qing , Yang Yang , Li Shou-Jun 
Published: July 2024

Background:
The Ozaki technique demonstrated promising results in adults, but few studies reported on pediatric patients with limited follow-up time. This study aimed to evaluate the mid-term results of Ozaki technique compared with Ross operation for complex aortic valve diseases in children.

Materials and methods:
One hundred and seventeen children underwent either Ozaki (n=64) or Ross (n=53) operation from January 2017 to December 2023. The primary endpoint was incidence of moderate or severe regurgitation/stenosis (AR/AS) post procedure.

Results:
No significant difference was observed in age (6.5±3.4 vs. 7.9±4.3 years) and weight (25.9±15.5 vs. 31.0±25.9 kgs) at surgery. The Ozaki group had significantly more patients in heart failure (20.3 vs. 1.9%, P = 0.003) before surgery and more patients needed ECMO installation (6.3% vs. 0, P=0.125) after surgery. The Ozaki group were in worse status with more patients occurred heart failure (20.3 vs. 1.9%, P = 0.003) before surgery and needed ECMO installation (6.3 vs. 0, P = 0.125) after surgery. During follow-up (20.4±17.3 vs. 22.7±22.8 months, P=0.526), five patients (7.8%) in Ozaki group but no patients in Ross group required reoperations. The incidence of moderate or severe AR (28.1 vs. 3.1%) and AS (31.3 vs. 5.7%) were significantly higher than Ross group. Multivariate analysis identified lower age [HR: 1.282 (95% CI: 1.075–1.529), P=0.006] and ECMO installation [HR: 0.126 (0.018–0.887), P=0.037] to be risk factors for moderate or severe AR, and higher aortic transvalvular gradient before discharge was confirmed as the only risk factor for moderate or severe AS (≥36 mmHg) at follow-up in Ozaki group.

Conclusion:
Ozaki technique may be used as a palliative procedure for complex aortic valve diseases in children, but its’ mid-term results were not durable as Ross surgery, especially younger patients.
The evaluation of risk factors in fascia dehiscence after abdominal surgeries
Authors: Parsa Hossein , Haji Maghsoudi Leila , Mohammadzadeh Alireza , Hosseini Maryam 
Published: July 2024

Background:
Despite the advances in surgical techniques and risk control practices in recent years, open wounds following abdominal laparotomy still have a high prevalence. The purpose of this study is to investigate the risk factors of fascia dehiscence (FD) in abdominal surgery patients.

Methods:
In this observational study, a total of 60 emergency and elective laparotomy patients were enrolled. For all patients, with (treatment) or without (control) wound dehiscence, a checklist was used to extract data from medical records regarding underlying diseases, suturing method, emergency or elective surgical procedure, duration of surgery less than 180 min, intraoperative bleeding, wound closure method, hernia repair, age, sex, smoking history, comorbidities, type of surgery, colostomy placement, wound complications, re-operation, mortality, wound complications including wound infection, wound dehiscence, incisional hernia, and anastomotic leak, and preoperative readiness assessments such as laboratory tests including C-reactive protein (CRP), Albumin (Alb), etc., were completed, and then comparisons were made.

Results:
Patients were examined in two groups: 14 patients (70%) in wound dehiscence with age 40–60 and 6 patients (30%) in non-wound dehiscence with age 60–75. Eight patients (40%) underwent elective surgery, and 12 patients (60%) underwent emergency surgery (P=0.2). Fourteen patients (70%) experienced mortality (P<0.001) and 13 patients (65%) had Alb less than 3 (P<0.001). Fourteen patients (70%) had drain installation (P=0.02). It was determined that the increase in CRP levels (compared to pre-dehiscence levels) was observed in 17 out of 20 cases, with the highest difference being CRP=91 and an average increase of 30. None of the patients suspected of anastomotic leakage were confirmed to have it. Dehiscence was typically diagnosed between the 4th and 7th days post-surgery. The colon and rectum were significantly more associated with dehiscence, while the stomach had the lowest association among surgical sites.

Conclusion:
Based on this study, FD is more common in patients treated in the emergency room than in elective procedures. Mortality occurred more in patients with FD, and there is a significant relationship between FD with albumin less than 3 and drain placement.
Nursing Quality Indicators in Emergency Nursing
Authors: Mustonen Meeri , Ameel Maria , Ritmala Marita , Leino-Kilpi Helena 
Published: July 2024

Background:
Nursing quality indicators (NQIs) are essential for evaluating and managing care, yet few validated NQIs exist for emergency nursing. The dynamic nature of this field demands specific, validated indicators.

Purpose:
The purpose of this review was to identify NQIs in adult emergency nursing using Donabedian’s quality categories (structure, process, outcome) and explore their validation.

Methods:
A scoping review was conducted including articles from 2010 to February 2023, using the Cumulative Index to Nursing and Allied Health Literature and Medline (Ovid) databases.

Results:
Among 936 screened articles, 18 were included, identifying 85 NQIs across structure (n = 14), process (n = 45), and outcome (n = 26) in emergency nursing. However, the validation of these NQIs was limited.

Conclusions:
NQIs evaluate emergency nursing quality, primarily in process assessment. Future work should validate the NQIs identified in this review for adult emergency nursing and search for potential new ones.
Trajectories in Intensity of Medical Interventions at the End of Life: Clustering Analysis in a Pediatric, Single-Center Retrospective Cohort, 2013–2021*
Authors: Liesse Kelly M. , Malladi Lakshmee , Dinh Tu C. , Wesp Brendan M. , Kam Brittni N. , Turturice Benjamin A. , Pyke-Grimm Kimberly A. , Char Danton S. , Hollander Seth A. 
Published: July 2024

OBJECTIVE:
Pediatric deaths often occur within hospitals and involve balancing aggressive treatment with minimization of suffering. This study first investigated associations between clinical/demographic features and the level of intensity of various therapies these patients undergo at the end of life (EOL). Second, the work used these data to develop a new, broader spectrum for classifying pediatric EOL trajectories.

DESIGN:
Retrospective, single-center study, 2013–2021.

SETTING:
Four hundred sixty-one bed tertiary, stand-alone children’s hospital with 112 ICU beds.

PATIENTS:
Patients of age 0–26 years old at the time of death.

INTERVENTIONS:
None.

MEASUREMENTS AND MAIN RESULTS:
Of 1111 included patients, 85.7% died in-hospital. Patients who died outside the hospital were older. Among the 952 in-hospital deaths, most occurred in ICUs (89.5%). Clustering analysis was used to distinguish EOL trajectories based on the presence of intensive therapies and/or an active resuscitation attempt at the EOL. We identified five simplified categories: 1) death during active resuscitation, 2) controlled withdrawal of life-sustaining technology, 3) natural progression to death despite maximal therapy, 4) discontinuation of nonsustaining therapies, and 5) withholding/noninitiation of future therapies. Patients with recent surgical procedures, a history of organ transplantation, or admission to the Cardiovascular ICU had more intense therapies at EOL than those who received palliative care consultations, had known genetic conditions, or were of older age.

CONCLUSIONS:
In this retrospective study of pediatric EOL trajectories based on the intensity of technology and/or resuscitation discontinued at the EOL, we have identified associations between these trajectories and patient characteristics. Further research is needed to investigate the impact of these trajectories on families, patients, and healthcare providers.
Brief Report: Aging With HIV: An Epidemiological Profile of Persons With Diagnosed HIV Aged 50 Years and Older in New York State, 2012–2021
Authors: Wang Zhengyan , Patterson Wendy , Rajulu Deepa T. 
Published: July 2024

Background:
Advanced antiretroviral treatment has led to a growing population of older persons with HIV. To understand the characteristics of persons aging with HIV, this analysis examines epidemiological profiles of persons with diagnosed HIV through 2021 aged 50 years and older in New York State.

Methods:
Persons diagnosed with HIV and reported to the NYS HIV registry by December 31, 2021, were included in the analysis. Characteristics of persons aged 50 years and older were compared with persons younger than 50 years.

Results:
Persons diagnosed with HIV and aged 50 years and older more often reported heterosexual transmission risk and were more often females than individuals diagnosed with HIV younger than 50 years. Among new diagnoses in 2021, persons aged 50 years and older were more likely to have a stage 3 HIV diagnosis. By the end of 2021, 57% of persons living with diagnosed HIV were aged 50 years and older. There was an upward trend of deaths with cardiovascular disease as an underlying cause of death among persons aged 50 years and older.

Conclusions:
More females diagnosed with HIV and a higher percentage of persons who reported heterosexual transmission risk among persons aged 50 years and older suggest a need for enhanced clinician education and sexual health discussions with this adult population. A greater rate of stage 3 HIV diagnoses in persons aged 50 years and older emphasizes the need for specialized HIV testing and treatment, care for comorbidities, and social supports for this aging population.
Scalable Bioreactor-based Suspension Approach to Generate Stem Cell–derived Islets From Healthy Donor-derived iPSCs
Authors: Verhoeff Kevin , Cuesta-Gomez Nerea , Maghera Jasmine , Dadheech Nidheesh , Pawlick Rena , Smith Nancy , O’Gorman Doug , Razavy Haide , Marfil-Garza Braulio , Young Lachlan G. , Thiesen Aducio , MacDonald Patrick E. , Shapiro A. M. James 
Published: July 2024

Background.
Induced pluripotent stem cells (iPSCs) offer the potential to generate autologous iPSC-derived islets (iPSC islets), however, remain limited by scalability and product safety.

Methods.
Herein, we report stagewise characterization of cells generated following a bioreactor-based differentiation protocol. Cell characteristics were assessed using flow cytometry, quantitative reverse transcription polymerase chain reaction, patch clamping, functional assessment, and in vivo functional and immunohistochemistry evaluation. Protocol yield and costs are assessed to determine scalability.

Results.
Differentiation was capable of generating 90.4% PDX1+/NKX6.1+ pancreatic progenitors and 100% C-peptide+/NKX6.1+ iPSC islet cells. However, 82.1%, 49.6%, and 0.9% of the cells expressed SOX9 (duct), SLC18A1 (enterochromaffin cells), and CDX2 (gut cells), respectively. Explanted grafts contained mature monohormonal islet-like cells, however, CK19+ ductal tissues persist. Using this protocol, semi-planar differentiation using 150 mm plates achieved 5.72 × 104 cells/cm2 (total 8.3 × 106 cells), whereas complete suspension differentiation within 100 mL Vertical-Wheel bioreactors significantly increased cell yield to 1.1 × 106 cells/mL (total 105.0 × 106 cells), reducing costs by 88.8%.

Conclusions.
This study offers a scalable suspension-based approach for iPSC islet differentiation within Vertical-Wheel bioreactors with thorough characterization of the ensuing product to enable future protocol comparison and evaluation of approaches for off-target cell elimination. Results suggest that bioreactor-based suspension differentiation protocols may facilitate scalability and clinical implementation of iPSC islet therapies.
Organ Utilization From Donors Following Extracorporeal Cardiopulmonary Resuscitation: A Systematic Review of Graft and Recipient Outcome
Authors: Rajsic Sasa , Treml Benedikt , Rugg Christopher , Innerhofer Nicole , Eckhardt Christine , Breitkopf Robert 
Published: July 2024

Background.
The global shortage of solid organs for transplantation is exacerbated by high demand, resulting in organ deficits and steadily growing waiting lists. Diverse strategies have been established to address this issue and enhance organ availability, including the use of organs from individuals who have undergone extracorporeal cardiopulmonary resuscitation (eCPR). The main aim of this work was to examine the outcomes for both graft and recipients of solid organ transplantations sourced from donors who underwent eCPR.

Methods.
We performed a systematic literature review using a combination of the terms related to extracorporeal life support and organ donation. Using Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, PubMed and Scopus databases were searched up to February 2024.

Results.
From 1764 considered publications, 13 studies comprising 130 donors and 322 organ donations were finally analyzed. On average, included patients were 36 y old, and the extracorporeal life support was used for 4 d. Kidneys were the most often transplanted organs (68%; 220/322), followed by liver (22%; 72/322) and heart (5%; 15/322); with a very good short-term graft survival rate (95% for kidneys, 92% for lungs, 88% for liver, and 73% for heart). Four studies with 230 grafts reported functional outcomes at the 1-y follow-up, with graft losses reported for 4 hearts (36%), 8 livers (17%), and 7 kidneys (4%).

Conclusions.
Following eCPR, organs can be successfully used with very high graft and recipient survival. In terms of meeting demand, the use of organs from patients after eCPR might be a suitable method for expanding the organ donation pool.
Electroconvulsive Therapy and Akathisia
Authors: Mukai Hiroo , Kageyama Sayaka , Miura Gentaro , Takeuchi Hiroyoshi 
Published: July 2024

Abstract
This review aimed to investigate the effects of electroconvulsive therapy (ECT) on akathisia. We systematically searched MEDLINE and Embase and included case reports on akathisia caused by or treated with ECT. We identified and included 9 articles. Seven articles, representing 10 cases, reported that akathisia improved after ECT. Most cases (7 cases) were diagnosed with a mood disorder, and all 10 cases were treated with antipsychotics. Akathisia was regarded as tardive (3 cases) and severe (4 cases). Although treatments for akathisia, such as adjusting antipsychotics and adding medication for akathisia, were tried before ECT, ultimately none were effective. In all 10 cases, akathisia showed significant improvement after ECT, and nonantipsychotic psychotropics or low-dose antipsychotics were administered as post-ECT treatment. Two articles (5 cases) reported that akathisia occurred after ECT. Three of these cases were diagnosed with a mood disorder, and all 5 cases were treated with perphenazine and tricyclic antidepressants. Akathisia occurred multiple times after ECT, but it was transient. Despite attempts to manage the akathisia, including discontinuation of psychotropics, addition of medication for akathisia, and adjustment of stimulation electrode positions, the outcomes of the interventions were inconsistent. Nonetheless, no persistent akathisia was observed after the end of the ECT course. Although the effects of ECT on akathisia remain unclear because of the paucity of high-quality studies, ECT could be considered particularly for treatment-resistant, tardive, and/or severe akathisia comorbid with mood disorders. Conversely, clinicians should keep in mind that transient akathisia can develop following ECT.
Alterations in secondary structure and binding affinity from mutations in the interleukin-1 receptor antagonist
Authors: Pillai Joshua 
Published: July 2024

AbstractDeficiency of Interleukin-1 receptor antagonist (DIRA) is a rare autosomal recessive autoinflammatory disorder that occurs during the neonatal period, manifesting a spectrum of symptoms including but not limited to osteomyelitis and pustulosis. This disease results from loss-of-function mutations in theIL1RNgene, encoding the IL-1 receptor antagonist (IL-1Ra). The dysfunction of IL-1Ra may arise from two mechanisms: (i) disruptions in the folding of its secondary structure, and (ii) impaired binding to its receptor, IL-1 receptor type 1. However, limited information exists detailing broad alterations in structure and binding affinity of known IL-1Ra variants. Herein, we used a validated protein prediction model to visualize 15 unique variants, and subsequently performed a structural analysis to elucidate the mutational impacts on secondary structure and binding affinity. Our analyses revealed reduced affinity at the 5 critical binding sites (W16, Q20, Y34, Q36, and Y147) along with missing secondary structures (β-sheets, α-helices) among the variants.HighlightsStructural analyses revealed reduced binding affinity resulting from impacts in critical binding sites of IL-1Ra.This is the first study broadly evaluating the mutational impacts on structure and binding affinity of IL-1Ra.A validatedin silicoprotocol was used to predict structural alterations of the IL-1Ra variants.
Proteostasis modulates gene dosage evolution in antibiotic-resistant bacteria
Authors: Jena Chinmaya , Chinnaraj Saillesh , Deolankar Soham , Matange Nishad 
Published: July 2024

AbstractEvolution of gene expression frequently drives antibiotic resistance in bacteria. We had previously (Patel and Matange,eLife, 2021) shown that, inEscherichia coli, mutations at themgrBlocus were beneficial under trimethoprim exposure and led to overexpression of dihydrofolate reductase (DHFR), encoded by thefolAgene. Here, we show that DHFR levels are further enhanced by spontaneous duplication of a genomic segment encompassingfolAand spanning hundreds of kilobases. This duplication was rare in wild typeE. coli. However, its frequency was elevated in alon-knockout strain, altering the mutational landscape early during trimethoprim adaptation. We then exploit this system to investigate the relationship between trimethoprim pressure andfolAcopy number. During long-term evolution,folAduplications were frequently reversed. Reversal was slower under antibiotic pressure, first requiring the acquisition of point mutations in DHFR or its promoter. Unexpectedly, despite resistance-conferring point mutations, some populations under high trimethoprim pressure maintainedfolAduplication to compensate for low abundance DHFR mutants. We find that evolution of gene dosage depends on expression demand, which is generated by antibiotic and exacerbated by proteolysis of drug-resistant mutants of DHFR. We propose a novel role for proteostasis as a determinant of copy number evolution in antibiotic-resistant bacteria.
COLLAGE: COnsensus aLignment of muLtiplexing imAGEs
Authors: Antoranz Asier , Arnould Alexandre , Andhari Madhavi Dipak , Nazari Pouya , Shankar Gautam , Moor Bart De , De Smet Frederik , Bosisio Francesca Maria , Pey Jon 
Published: July 2024

AbstractMultiplexed immunohistochemistry (mIHC) enables the high-dimensional single-cell interrogation of pathological tissue samples. mIHC is commonly based on the collection of high-resolution images from repeated staining cycles of the same tissue sample. Images of individual cycles typically consist of smaller tiles that need to be stitched into larger composite images, while images from serial rounds require alignment in a shared set of coordinates to enable pixel-perfect data integration. Current algorithms for stitching and registration require solving a single large puzzle consisting of billions of pixels making them computationally expensive but moreover forcing them to introduce errors to close the puzzle, which significantly impact the downstream results and the single-cell profiles. Here, we present the development and evaluation of COLLAGE (COnsensus aLignment of muLtiplexing imAGEs), an innovative stitching and registration method that leverages on the complementarity of these two steps in a ‘divide and conquer’ approach: in contrast to other algorithms, COLLAGE breaks the process down into thousands of small puzzles, enabling extensive parallelisation and not forcing errors in its solution. Because COLLAGE also includes AlgnQC, a novel deep-learning-based evaluation metric of registration quality, the quality of the resulting image stacks is consistently maximised, while images with errors are flagged in an automated way. COLLAGE is available viawww.disscovery.org.Abstract Figure