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Tools for predicting COVID-19 outcomes enable personalized healthcare, potentially easing the disease burden. This collaborative study by 15 institutions across Europe aimed to develop a machine learning model for predicting the risk of in-hospital mortality post-SARS-CoV-2 infection. Blood samples and clinical data from 1286 COVID-19 patients collected from 2020 to 2023 across four cohorts in Europe and Canada were analyzed, with 2906 long non-coding RNAs profiled using targeted sequencing. From a discovery cohort combining three European cohorts and 804 patients, age and the long non-coding RNA LEF1-AS1 were identified as predictive features, yielding an AUC of 0.83 (95% CI 0.82-0.84) and a balanced accuracy of 0.78 (95% CI 0.77-0.79) with a feedforward neural network classifier. Validation in an independent Canadian cohort of 482 patients showed consistent performance. Cox regression analysis indicated that higher levels of LEF1-AS1 correlated with reduced mortality risk (age-adjusted hazard ratio 0.54, 95% CI 0.40-0.74). Quantitative PCR validated LEF1-AS1's adaptability to be measured in hospital settings. Here, we demonstrate a promising predictive model for enhancing COVID-19 patient management., (© 2024. The Author(s).)

Background: Retinitis pigmentosa (RP) is a set of inherited rod-cone degenerative diseases that clinically presents with similar signs and symptoms. Mutations in one of more than 70 genes are involved. Patients will commonly present with bone-spicule pigment formation, waxy optic nerve pallor, and attenuated blood vessels in the posterior pole.Symptoms often begin with progressive night blindness, mid-peripheral visual field defects, and eventual tunnel vision. Central vision loss will ultimately occur following loss of rod function. Complete blindness is uncommon., Objective: The aim of this article is to present two cases of retinitis pigmentosa (mother and daughter) trough optalmologic exams in our clinic. The next aim it to show how to menage a low vision service and to treat cystoid macular oedema as a complication of retinitis pigmentosa., Methods: All medical reports are shown in this article. Every diagnostic tool as well as report is a part from our archived history of the patients and has been throughly analysed. We also reviewed available literature using the key words retinitis pigmentosa, cystoid macular oedema, gene therapy., Case Presentation: A 38 year old female patient for a low vision consultation. The patient was legally blind secondary to retinitis pigmentosa, which was diagnosed in her late 20s. She reported gradually progressive hazy central vision and decreasing peripheral vision in both eyes as well as severe night blindness. Other than the diagnosis of retinitis pigmentosa in both eyes,the patient had no other remarkable ocular conditions. Findings at that visit included unaided distance visual acuities VOD: 0,04 VOS: 0,06. Pupils were round with brisk responses. Extraocular muscle motility was full in both eyes. Confrontation methode visual fields were noted as temporal loss in the right eye and superior and temporal loss in the left eye. The perimetry test could not be performed due to the lack of correspondece of the patient even after a couple repetitions of the perimetry. She had normal ocular adnexa and quiet lids, conjunctiva, and sclera in both eyes. Corneas in both eyes were noted as clear epithelium, clear stroma, and clear endothelium. Anterior chambers had normal depth, iris with no pathological findings in both eyes; lens incipient sclerotic. Intraocular pressures were noted as 22 mmHg in both eyes with Icare, 21mmHg and 19 mmHg with aplanation tonometry; pahimetry corretional factor was +1 on both eyes. The vitreous was clear in both eyes. Both optic nerves were measured as 0.4 cup-to-disc ratios with no disc edema, disc hemorrhages, notching, or thinning noted.Waxy disc pallor and attenuated blood vessels were observed in both eyes. The macula in both eyes had retinal pigment epithelium (RPE) changes with no edema or hemorrhages. Bone spicule changes were noted 360 in the periphery of both eyes with no holes or tears(Figure 1a+1b+1c+1d)., Conclusion: We presented two cases of retinitis pigmentosa - the mother with diagnosed RP more than 15 years ago in need for low vision rehabilitation service and the daughter that got diagnosed after our initial examination and with complications in visual impairment through cystoid macular oedema., Competing Interests: The authors report no potential conflicts of interest in the development and publication of this article., (© 2022 Melita Adilovic, Emira Ignjatic, Arnes Cabric.)

The human microbiome has emerged as a central research topic in human biology and biomedicine. Current microbiome studies generate high-throughput omics data across different body sites, populations, and life stages. Many of the challenges in microbiome research are similar to other high-throughput studies, the quantitative analyses need to address the heterogeneity of data, specific statistical properties, and the remarkable variation in microbiome composition across individuals and body sites. This has led to a broad spectrum of statistical and machine learning challenges that range from study design, data processing, and standardization to analysis, modeling, cross-study comparison, prediction, data science ecosystems, and reproducible reporting. Nevertheless, although many statistics and machine learning approaches and tools have been developed, new techniques are needed to deal with emerging applications and the vast heterogeneity of microbiome data. We review and discuss emerging applications of statistical and machine learning techniques in human microbiome studies and introduce the COST Action CA18131 "ML4Microbiome" that brings together microbiome researchers and machine learning experts to address current challenges such as standardization of analysis pipelines for reproducibility of data analysis results, benchmarking, improvement, or development of existing and new tools and ontologies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Moreno-Indias, Lahti, Nedyalkova, Elbere, Roshchupkin, Adilovic, Aydemir, Bakir-Gungor, Santa Pau, D’Elia, Desai, Falquet, Gundogdu, Hron, Klammsteiner, Lopes, Marcos-Zambrano, Marques, Mason, May, Pašić, Pio, Pongor, Promponas, Przymus, Saez-Rodriguez, Sampri, Shigdel, Stres, Suharoschi, Truu, Truică, Vilne, Vlachakis, Yilmaz, Zeller, Zomer, Gómez-Cabrero and Claesson.)

Background: Increasing evidence is demonstrating that a patient's unique genetic profile can be used to detect the disease's onset, prevent its progression, and optimize its treatment. This led to the increased global efforts to implement personalized medicine (PM) and pharmacogenomics (PG) in clinical practice. Here we investigated the perceptions of students from different universities in Bosnia and Herzegovina (BH) towards PG/PM as well as related ethical, legal, and social implications (ELSI). This descriptive, cross-sectional study is based on the survey of 559 students from the Faculties of Medicine, Pharmacy, Health Studies, Genetics, and Bioengineering and other study programs., Results: Our results showed that 50% of students heard about personal genome testing companies and 69% consider having a genetic test done. A majority of students (57%) agreed that PM represents a promising healthcare model, and 40% of students agreed that their study program is well designed for understanding PG/PM. This latter opinion seems to be particularly influenced by the field of study (7.23, CI 1.99-26.2, p = 0.003). Students with this opinion are also more willing to continue their postgraduate education in the PM (OR = 4.68, CI 2.59-8.47, p < 0.001). Furthermore, 45% of students are aware of different ethical aspects of genetic testing, with most of them (46%) being concerned about the patient's privacy., Conclusions: Our results indicate a positive attitude of biomedical students in Bosnia and Herzegovina towards genetic testing and personalized medicine. Importantly, our results emphasize the key importance of pharmacogenomic education for more efficient translation of precision medicine into clinical practice.