Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing.

Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through "EDUS-Education for All", an organization providing services for children with developmental disorders in Bosnia and Herzegovina. We further rated children's autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing (WES) was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) next-generation sequencing (NGS) apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.

Correction: Qamar et al. Treatment of Peripheral Artery Disease Using Injectable Biomaterials and Drug-Coated Balloons: Safety and Efficacy Perspective. Pharmaceutics 2023, 15, 1813.

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Application of artificial intelligence for the classification of the clinical outcome and therapy in patients with viral infections: The case of COVID-19.

BACKGROUND: With the end of the coronavirus disease 2019 (COVID-19) pandemic, it becomes intriguing to observe the impact of innovative digital technologies on the diagnosis and management of diseases, in order to improve clinical outcomes for patients. OBJECTIVE: The research aims to enhance diagnostics, prediction, and personalized treatment for patients across three classes of clinical severity (mild, moderate, and severe). What sets this study apart is its innovative approach, wherein classification extends beyond mere disease presence, encompassing the classification of disease severity. This novel perspective lays the foundation for a crucial decision support system during patient triage. METHODS: An artificial neural network, as a deep learning technique, enabled the development of a complex model based on the analysis of data collected during the process of diagnosing and treating 1000 patients at the Tesanj General Hospital, Bosnia and Herzegovina. RESULTS: The final model achieved a classification accuracy of 82.4% on the validation data set, which testifies to the successful application of the artificial neural network in the classification of clinical outcomes and therapy in patients infected with viral infections. CONCLUSION: The results obtained show that expert systems are valuable tools for decision support in healthcare in communities with limited resources and increased demands. The research has the potential to improve patient care for future epidemics and pandemics.

Treatment of Peripheral Artery Disease Using Injectable Biomaterials and Drug-Coated Balloons: Safety and Efficacy Perspective.

The possibility of injectable biomaterials being used in the therapy of peripheral artery disease (PAD) is investigated in this article. We conducted a thorough review of the literature on the use and efficacy of biomaterials (BMs) and drug-coated balloons (DCBs). These BMs included hydrogels, collagen scaffolds, and nanoparticles. These BMs could be used alone or in combination with growth factors, stem cells, or gene therapy. The treatment of peripheral artery disease with DCBs is increasingly common in the field of interventional angiology. Studies have been carried out to examine the effectiveness of paclitaxel-coated balloons such as PaccocathTM in lowering the frequency with which further revascularization operations are required. PCB angioplasty and angioplasty without paclitaxel did not significantly vary in terms of mortality, according to the findings of a recent meta-analysis that included the results of four randomized controlled studies. On the other hand, age was found to be a factor that predicted mortality. There was a correlation between the routine utilization of scoring balloon angioplasty along with DCBs and improved clinical outcomes in de novo lesions. In both preclinical and clinical testing, the SelutionTM DCB has demonstrated efficacy and safety, but further research is required to determine whether or not it is effective and safe over the long term. In addition, we reviewed the difficulties involved in bringing injectable BMs-based medicines to clinical trials, including the approval processes required by regulatory bodies. Injectable BMs have a significant amount of therapeutic promise for PAD, which highlights the need for more research and clinical studies to be conducted in this field. In conclusion, this research focuses on the potential of injectable BMs and DCBs in the treatment of PAD as well as the hurdles that must be overcome in order to translate these treatments into clinical trials. In this particular field, there is a demand for further research as well as clinical trials.

A novel method for conformity assessment testing of infant incubators for post-market surveillance purposes.

BACKGROUND: Premature born infants or infants born sick require immediate medical attention and decreasing the stress imposed onto their body by the environment. Infant incubators provide an enclosed environment that can be controlled to fit the needs of the infant. As such, their performance must be consistent and without significant deviations. The only manner to ensure this is by post-market surveillance (PMS) focused on evaluation of both safety and performance. The new Medical Device Regulation (MDR) defines medical device post-market surveillance (PMS) as performed by independent, third-party, notified bodies more strategically in hope to improve traceability of device performance. However, there is still an apparent gap in terms of standardised conformity assessment testing methods. OBJECTIVE: This paper proposes a novel method for conformity assessment testing of infant incubators for post-market surveillance purposes. METHOD: The method was developed based on guidelines for devices providing measurements laid out by the International Organisation of Legal Metrology (OIML). The methodology was validated during a four year period in healthcare institutions of all levels. RESULTS: The developed method was validated between 2018 and 2021 in healthcare institutions of all levels. The results obtained during validation suggest that conformity assessment testing of infant incubators as a method used during PMS contributes to significant improvement in devices' accuracy and reliability. CONCLUSION: A standardized approach in conformity assessment testing of infant incubators during PMS, besides increasing reliability of the devices, is the first step in digital transformation of management of these devices in healthcare institutions opening possibility for use of artificial intelligence.

Identification of developmental disorders including autism spectrum disorder using salivary miRNAs in children from Bosnia and Herzegovina.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by major social, communication and behavioural challenges. The cause of ASD is still unclear and it is assumed that environmental, genetic and epigenetic factors influence the risk of ASD occurrence. MicroRNAs (miRNAs) are short 21-25 nucleotide long RNA molecules which post-transcriptionally regulate gene expression. MiRNAs play an important role in central nervous system development; therefore, dysregulation of miRNAs is connected to changes in behaviour and cognition observed in many disorders including ASD. Based on previously published work, on diagnosing ASD using miRNAs, we hypothesized that miRNAs can be used as biomarkers in children with suspected developmental disorders (DD) including ASD within Bosnian-Herzegovinian (B&H) population. 14 selected miRNAs were tested on saliva of children with suspected developmental disorders including ASD. The method of choice was qRT-PCR as a relatively cheap method available in most diagnostic laboratories in low to mid-income countries (LMIC). Out of 14 analysed miRNAs, 6 were differentially expressed between typically developing children and children with some type of developmental disorder including autism spectrum disorder. Using the most optimal logistic regression, we were able to distinguish between ASD and typically developing (TD) children. We have found 5 miRNAs as potential biomarkers. From those, 3 were differentially expressed within the ASD cohort. All 5 miRNAs had shown good chi-square statistics within the logistic regression performed on all 14 analysed miRNAs. The accuracy of 5-miRNAs model training set was 90.2%, while the validation set had a 90% accuracy. This study has shown that miRNAs may be considered as biomarkers for ASD detection and may be used to identify children with ASD along with standard developmental screening tests. By combining these methods we may be able to reach a reliable and accessible diagnostic model for children with ASD in LMIC such as B&H.

Meta-analysis of depleted uranium levels in the Middle East region.

Since the first widespread use of depleted uranium in military in the 1991 Gulf War, the so-called "Gulf War Syndrome" has been a topic of ongoing debate. However, a low number of reliable scientific papers demonstrating the extent of possible contamination as well as its connection to the health status of residents and deployed veterans has been published. The authors of this study have therefore aimed to make a selection of data based on strict inclusion and exclusion criteria. With the goal of clarifying the extent of DU contamination after the Gulf Wars, previously published data regarding the levels of DU in the Middle East region were analyzed and presented in the form of a meta-analysis. In addition, the authors attempted to make a correlation between the DU levels and their possible effects on afflicted populations. According to results observed by comparing 234U/238U and 235U/238U isotopic activity ratios, as well as 235U/238U mass ratios in air, water, soil and food samples among the countries in the Middle East region, areas indicating contamination with DU were Al Doha, Manageesh and Um Al Kwaty in Kuwait, Al-Salman, Al-Nukhaib and Karbala in Iraq, Beirut in Lebanon and Sinai in Egypt. According to these data, no DU contamination was observed in Algeria, Israel, Afghanistan, Oman, Qatar, Iran, and Yemen. Due to the limited number of reliable data on the health status of afflicted populations, it was not possible to make a correlation between DU levels and health effects in the Middle East region.