Tag: pubmed

NPJ Digit Med. 2024 Nov 21;7(1):334. doi: 10.1038/s41746-024-01275-6.

ABSTRACT

A fundamental goal of evaluating the performance of a clinical model is to ensure it performs well across a diverse intended patient population. A primary challenge is that the data used in model development and testing often consist of many overlapping, heterogeneous patient subgroups that may not be explicitly defined or labeled. While a model’s average performance on a dataset may be high, the model can have significantly lower performance for certain subgroups, which may be hard to detect. We describe an algorithmic framework for identifying subgroups with potential performance disparities (AFISP), which produces a set of interpretable phenotypes corresponding to subgroups for which the model’s performance may be relatively lower. This could allow model evaluators, including developers and users, to identify possible failure modes prior to wide-scale deployment. We illustrate the application of AFISP by applying it to a patient deterioration model to detect significant subgroup performance disparities, and show that AFISP is significantly more scalable than existing algorithmic approaches.

PMID:39572755 | DOI:10.1038/s41746-024-01275-6

Sci Rep. 2024 Nov 21;14(1):28895. doi: 10.1038/s41598-024-80081-2.

ABSTRACT

Radiofrequency ablation (RFA) is effective treatment for Barrett’s esophagus (BE). Product of successful RFA is neosquamous epithelium (NSE), which resembles native squamous epithelium and has lower risk for neoplastic transformation. Dilated intercellular spaces (IS) are common microscopic feature of reflux induced injury of esophagus. The aim of this study was to analyze the ultrastructure of NSE by transmission electron microscopy (TEM), depending on the post RFA treatment modalities and to asses impact of these findings on BE recurrence. Prospective observational clinical study based on TEM analysis of biopsy of specimens obtained from patients in whom CE of BE was achieved minimum 6 months after the last RFA session. In each patient biopsies were taken from NSE and proximal esophagus. Two groups of patients were defined according to the post RFA treatment: proton pump inhibitors (PPI’s) or laparoscopic Nissen fundoplication (LNF). Comparative analysis of IS length was made between two groups. Endoscopic surveillance with biopsies was conducted for 5 years. Overall 22 patients with CE of BE after RFA underwent complete study protocol, out of whom in 10 LNF was performed, while 12 were treated with PPI’s. The mean values of IS length in the proximal esophagus and NSE in LNF group were 0.378 ± 0.116 µm and 0.878 ± 0.354, while in PPI’s group 0.724 ± 0.325 µm and 1.228 ± 0.226 µm, respectively. Mean lenghts of IS were statistically significantly higher in PPI’s group both in NSE (p = 0.032) and proximal esophagus (p = 0.009). There were 5 BE recurrences after 5 years surveillance, 4 in PPI group and 1 in LNF group, without statistical significance (p = 0.084). Dilated IS are commonly presented in NSE of patients with CE of BE with RFA who are treated with PPI’s. LNF provides may offer better reflux protection of NSE than PPI’s and may reduce the rates of recurrence after successful RFA treatment.

PMID:39572749 | DOI:10.1038/s41598-024-80081-2

Sci Rep. 2024 Nov 21;14(1):28852. doi: 10.1038/s41598-024-79895-x.

ABSTRACT

Understanding the dynamics of movements between different demographic events is essential for informing effective population management strategies. This study aims to characterize the trajectories of demographic and other vital events within the Nairobi Urban Health and Demographic Surveillance System (NUHDSS). Thus, it intends to unravel patterns and trends that can guide the development of targeted policies and interventions to address the population’s evolving needs. Using a continuous-time homogeneous multi-state Markov model, longitudinal data from 223,350 individuals in Korogocho and Viwandani urban slums, we study the enumeration, births, deaths, and migrations among urban poor in Nairobi, shedding light on population dynamics and movements over time, disaggregated by gender. Findings indicate a positive net migration in population per thousand in 2002, dropping in 2004, with Viwandani consistently showing higher birth rates than Korogocho. Males generally have higher death rates than females. Females from Viwandani are 39.0% more likely to exit after enumeration compared to Korogocho, while males are 35.6% more likely to move from enumeration to exit compared to males from Korogocho. Both genders from Viwandani have a decreased likelihood of moving from birth to death compared to Korogocho. Our findings provide unique insights into migration in urban Kenya, the frequency and movement to different demographic events and any gender differences that warrant strategic policies for effective population and health planning in Africa. These findings can inform the design of effective health interventions that are often affected by migration and population growth.

PMID:39572746 | DOI:10.1038/s41598-024-79895-x

Nat Neurosci. 2024 Nov 21. doi: 10.1038/s41593-024-01812-2. Online ahead of print.

ABSTRACT

The functional properties of the human brain arise, in part, from the vast assortment of cell types that pattern the cerebral cortex. The cortical sheet can be broadly divided into distinct networks, which are embedded into processing streams, or gradients, that extend from unimodal systems through higher-order association territories. Here using microarray data from the Allen Human Brain Atlas and single-nucleus RNA-sequencing data from multiple cortical territories, we demonstrate that cell-type distributions are spatially coupled to the functional organization of cortex, as estimated through functional magnetic resonance imaging. Differentially enriched cells follow the spatial topography of both functional gradients and associated large-scale networks. Distinct cellular fingerprints were evident across networks, and a classifier trained on postmortem cell-type distributions was able to predict the functional network allegiance of cortical tissue samples. These data indicate that the in vivo organization of the cortical sheet is reflected in the spatial variability of its cellular composition.

PMID:39572742 | DOI:10.1038/s41593-024-01812-2

Sci Rep. 2024 Nov 21;14(1):28842. doi: 10.1038/s41598-024-79708-1.

ABSTRACT

In this randomized controlled trial, we assessed the effects of three consecutive intra-silicone oil (SO) injections of methotrexate (MTX) on the outcomes of surgery for proliferative vitreoretinopathy grade C (PVR-C). Seventy-four eyes of 74 patients with PVR-C were included. Of these, 37 eyes were assigned to the MTX group and 37 eyes to the control group. Fourteen patients failed to comply with the 6-month follow-up period. All eyes underwent vitrectomy and SO injection. In the MTX group, 250 µg MTX was injected into the SO after surgery and at weeks 3 and 6 postoperatively. The primary outcome was the retinal reattachment rate at 6 months. The secondary outcomes included limited PVR recurrence and adverse events. Retinal reattachment was achieved in 22 eyes (73.3%) in the MTX group and 23 eyes (76.7%) in the control group (difference: -3.4%, 95% CI: -25.2-18.5%). Limited PVR recurrence was observed in one eye (4.5%) in the MTX group versus nine eyes (39.1%) in the control group at 6 months (P = 0.01). No adverse effects were observed. Adjunctive treatment with three consecutive applications of intra-SO MTX did not reveal a significant effect on the retinal re-detachment rate but could statistically significantly reduce limited PVR recurrence.Trial registration: http//ClinicalTrials.gov NCT04482543, 22/07/2020.

PMID:39572739 | DOI:10.1038/s41598-024-79708-1

Nat Biotechnol. 2024 Nov 21. doi: 10.1038/s41587-024-02475-x. Online ahead of print.

ABSTRACT

Pooled single-cell CRISPR screens have profiled either gene expression or chromatin accessibility but not both modalities. Here we develop MultiPerturb-seq, a high-throughput CRISPR screening platform with joint single-nucleus chromatin accessibility, transcriptome and guide RNA capture using combinatorial indexing combined with droplet microfluidics to scale throughput and integrate all three modalities. We identify key differentiation genes in a rare pediatric cancer and establish ZNHIT1 as a potential target for cancer reprogramming therapy.

PMID:39572737 | DOI:10.1038/s41587-024-02475-x

Sci Rep. 2024 Nov 21;14(1):28915. doi: 10.1038/s41598-024-80469-0.

ABSTRACT

It is conventionally believed that macromolecules found in living cells, including DNA, RNA, and proteins, do not exhibit inherent light emission. However, recent studies have challenged this concept by demonstrating spontaneous light emission from nucleic acids under certain conditions and physiological temperatures. By noninvasive monitoring of barley genomic DNA and advanced statistical physics analyses, temperature-induced dynamic entropy fluctuations and fractal dimension oscillations were identified at a key organizational threshold. The study revealed evidence for non-equilibrium phase transitions, a noticeable photovoltaic current jump at zero bias voltage, and a proportional increase (scaling) of the photoinduced current corresponding to increasing amounts of DNA. In addition, we estimated DNA’s energy production rate at criticality and introduced an interferometer using coherent light emissions from the DNA-water interface. These findings suggest that DNA is a major source of ultraweak photon emission in biological systems.

PMID:39572702 | DOI:10.1038/s41598-024-80469-0

Sci Rep. 2024 Nov 22;14(1):28925. doi: 10.1038/s41598-024-80388-0.

ABSTRACT

To investigate the efficacy of endoscopic membranous nasolacrimal duct resection combined with retrograde lacrimal stent in the treatment of extremely inferior lacrimal duct obstruction. Retrospective cohort study at Nanchang University’s Affiliated Eye Hospital. Experimental Group: Endoscopic membranous nasolacrimal duct resection combined with retrograde lacrimal stent implantation; Control group: Conventional endoscopic dacryocystorhinostomy combined with bicanalicular Silicone Stent implantation.The duration of the surgical procedure, postoperative comfort score, irrigation of the lacrimal passage after extubation, and Munk score of curative effect at six months post-operation were recorded. The data were quantified and analyzed using SPSS 26.0 statistical software. The symptoms of epiphora showed significant improvement following surgery. There were notable differences in operation time and postoperative comfort between the experimental group and the control group who underwent conventional endoscopic dacryocystorhinostomy (P < 0.05). However, there was no significant difference in efficacy and lacrimal duct irrigation after extubation or at six months post-operation (P > 0.05). The cure rate of the experimental group reached 70%, while the control group achieved a cure rate of 78%. Furthermore, the effective rate in the experimental group was found to be 81%, whereas it was 89% in the control group.No evident complications were observed in the experimental group. The combination of endoscopic membranous nasolacrimal duct resection and retrograde lacrimal stent reduces the invasiveness of the lacrimal duct structure, shortens the operation time, improves patient comfort, and achieves favorable therapeutic outcomes. This approach is recommended for patients with extremely Inferior lacrimal duct obstruction .

PMID:39572700 | DOI:10.1038/s41598-024-80388-0

Nat Hum Behav. 2024 Nov 21. doi: 10.1038/s41562-024-02066-5. Online ahead of print.

NO ABSTRACT

PMID:39572684 | DOI:10.1038/s41562-024-02066-5

Sci Rep. 2024 Nov 21;14(1):28898. doi: 10.1038/s41598-024-80653-2.

ABSTRACT

To compare the survival outcomes of patients with stage T2N0M0 esophageal cancer treated with surgery alone versus those treated with neoadjuvant chemoradiotherapy followed by surgery. Patients with stage T2N0M0 esophageal cancer, who either underwent surgery alone or received neoadjuvant chemoradiotherapy followed by surgery, were extracted from the Surveillance, Epidemiology, and End Results database covering the period from 2000 to 2020. Cancer-specific survival (CSS) and overall survival (OS) between the two treatment groups were compared. A total of 583 patients were included: 267 (45.8%) received surgery alone, while 316 (54.2%) underwent neoadjuvant chemoradiotherapy followed by surgery. Prior to propensity score matching, no significant differences were observed between the surgery alone and neoadjuvant chemoradiotherapy groups in terms of 5-year CSS (60.86% vs. 59.02%; hazard ratio [HR] = 1.01, 95% confidence interval [CI]: 0.79-1.29; P = 0.916) and OS (50.64% vs. 49.81%; HR = 0.91, 95% CI: 0.75-1.12; P = 0.375). After propensity score matching, the 5-year CSS (66.43% vs. 56.67%; HR = 1.21, 95% CI: 0.89-1.64; P = 0.225) and OS (56.49% vs. 47.37%; HR = 1.09, 95% CI: 0.85-1.40; P = 0.481) remained statistically similar between the two groups. Subgroup analyses of patients with squamous cell carcinoma and adenocarcinoma revealed no significant differences in survival outcomes between the treatment modalities for either histological subtype. Neoadjuvant chemoradiotherapy followed by surgery does not confer a survival advantage over surgery alone in patients with stage T2N0M0 esophageal cancer, irrespective of histological subtype.

PMID:39572671 | DOI:10.1038/s41598-024-80653-2