Pilot Project Research Articles

Promoting menstrual health management among women and girls in Mehe (Cameroon) through a pilot testing project: A quasi-experimental study

BackgroundThe Far North region in Cameroon has the highest rate of poverty in the country. In this region, the natural process of menstruation is a taboo. Knowledge, attitudes and practices about menstruation and menstrual hygiene among adolescent girls is inadequate. This paper investigated the effectiveness of a pilot health promotion project on improving knowledge, attitudes and practices of menstrual hygiene among women and girls in Mehe located in, Meme discrit, Mayo Sava division (Far North region of Cameroon). MethodsA quasi-experimental study was conducted to evaluate the impact of the health intervention program through a pilot testing project launched in May 2021. A sample of 350 Girls and women from 14 villages in Mehe was made on a random basic. Essentially soft intervention was implemented through a pilot project to bring change within the community. Assessment conducted in May 2022, comprised Key Informal Interview, Focus Group Discussions and a self-administered questionnaire measuring demographic characteristics, knowledge (K), attitudes (A), and practices (P). This KAP survey was administered before and after to investigate the main intervention outcomes. To check the consistency of the findings, a pre-post comparison is conducted using the asymptotic McNemar test for binary matched-pairs data. ResultsThe paper shows that the girls and women of Mehe suffer from poor menstrual hygiene, originating from lack of knowledge and taboos that worsening gender equality. Thanks to the project, they have improved their menstrual health management and gender inequality have been reduced. This study confirms that a soft intervention through a menstrual health education pilot testing project can promote can improved menstrual health management.

How to enable human-centric collaboration in social product development paradigm: A practical and theoretical exploration

Since 2012, social product development (SPD) has emerged as a potential paradigm for new product development (NPD). However, the emerging SPD practices are difficult to remain and promote after their early success. The lack of sustainable human-centric collaborative settings will hinder the release of crowd-based collective intelligence in NPD. Currently, the core mechanisms of human-centric collaboration (HCC) in SPD are not clear. To narrow the gap between theory and practice, a two-way empirical study is conducted through an in-deep industrial practice investigation and theory-oriented research based on cooperative inquiry. An extreme case of a famous automotive company is sampled as the object of the cooperative inquiry. The proposed theoretical models are verified by two real SPD pilot projects. Inspired by the discipline of Collaborative Engineering, this study explores the HCC issues and it core mechanisms in the context of SPD. Two novel foundation theoretical models are developed to address the focused scientific problem and engineering challenge. A bottom-up model is developed to structurally elicit the HCC requirements and develop reasonable information modules for specific HCC work practices. A top-down model is developed to improve the manageability and reusability of the learnable experience from historical HCC work practices for better business-technology-system alignment. This study put forward novel theoretical models for designing and deploying collaborative work practices for HCC in SPD. A classification-based Descriptive Model of Collaboration (DMoC) is proposed, which is domain-agnostic and customized for SPD requirements. Our model inherits and outperforms in modelling capability than five other proven modelling approaches.

A pilot project to explore the mental health and wellbeing among cardiothoracic staff and the impact of virtual reality guided mindfulness

BackgroundThe Cardio-Thoracic (CT) professional group experienced a significant increase in stress and workload during and after the COVID-19 pandemic. The Society for Cardiothoracic Surgery (SCTS) in Great Britain and Ireland with the aim of endorsing positive change. Aim of this project was to understand the Mental Health (MH) and wellbeing status of the CT professionals and to explore Virtual Reality Mindfulness as an intervention to improve MH and wellbeing.MethodsIn February 2022, the SCTS created a Mental Health and Wellbeing Working Group to identify the problem and find solutions. This exploratory project was carried out in two stages. Stage one was an online survey conducted in March 2022 and stage two was a Virtual Reality (VR) mindfulness workshop in March 2023, using the Rescape™ VR mindfulness tool.ResultsStage one: An online QR code survey was sent out to 150 members with 129 (86%) completed responses. 92% expressed that SCTS should create awareness about mental health and wellbeing. 99% said that they should be allowed to speak up and create interventions for members to access, support and relax. Three main themes identified about why CT staff do not discuss their Mental Health problems were fear of lack of awareness (72%), lack of confidentiality (60%) and impact on career (60%). Stage two: 88 members attended the VR session of which 76 (86%) completed the anonymous questionnaire. 97% reported usage was a pleasurable experience, 91% felt more relaxed, 82% felt less stressed, 90% felt calmer and 89% had their mood enhanced.ConclusionOur study findings indicate that CT staff experience considerable effects on their mental health and wellbeing. However, there is a hesitancy to recognise and seek assistance due to concerns about confidentiality and career repercussions. The virtual reality mindfulness session served as a beneficial supplement, with a positive impact in this pilot cohort.

THE ROLE OF THE 20HYGRID PROJECT AND GAS DISTRIBUTION INFRASTRUCTURE IN ROMANIA'S ENERGY TRANSITION

20HyGrid is the first blending pilot project developed in Romania, in the context of the climate neutrality strategy. The project aimed to verify the compatibility of current distribution networks, of house installations/ appliances using a mixture of natural gas and 20vol.% hydrogen, noxious reduction and collaboration with authorities for developing legislative framework for green gases distribution through the current natural gas infrastructure. The tests analyzed both the functioning of existing appliances and burning/combustion process. No technical risk was identified when operating with this mixture (without appliances modifications). The significant reduction of emissions confirms the results of similar European projects. Romanian gas infrastructure is a key component of energy transition.

The cancer diagnostic clinic: A rapid access clinic to improve outcomes for patients with a suspected cancer diagnosis.

77 Background: Patients with suspected cancer often face challenges navigating complex health systems, resulting in delays in diagnosis and time to treatment, which are associated with adverse outcomes and patient dissatisfaction. To improve patient access and bridge this healthcare gap, the Cancer Diagnostic (CDx) clinic was established to streamline the evaluation for patients with a new suspected cancer. The CDx clinic prioritizes expedited cancer evaluation, timely and accurate diagnostic testing, and transition of care to subspecialty Oncologists, to improve the patient experience and cancer-related outcomes. Methods: Leaders in the Abramson Cancer Center (ACC) initiated a pilot project to facilitate timely appointments to Oncologists for patients in the Emergency Department with a new suspected cancer. Patient access lead time and time to diagnosis and treatment were tracked. This pilot was formally expanded across the health system to become the CDx clinic for eligible adult patients with suspicious symptoms, lab abnormalities, or imaging findings concerning for cancer. Patient data was extracted using an EMR-based form and supplemented by chart review. Study period was March 2023 to April 2024 and included socio-demographics, cancer subtype, referral type, time from referral to new patient appointment (access lead time), time from first appointment to diagnosis and treatment (surgery, systemic or radiation therapy), patient retention, complications, and mortality. Results: Over 12 months, 108 patients were evaluated in the CDx clinic. Most patients were male (56%), White (58%), and non-residents of Philadelphia County (65%). There were 8 referrals (range: 6-13) per month with the majority of patients from external referrals (60.2%). Compared to baseline, CDx resulted (median pre/post in days) in similar time to first appointment (7 vs. 7 days), improved time to diagnosis (21 vs. 8 days), and improved time to treatment (42 vs. 29.5 days). 71 patients were diagnosed with cancer with Gastrointestinal (47%) and Thoracic (24%) cancers being most common. 98.6% (70/71) of patients were retained at ACC and transitioned to subspecialty care. 80.3% (57/71) of patients received cancer-directed treatment. After the initial consult date, for the patients diagnosed with cancer, there were 4 ED visits and 20 hospitalizations within 30 days, 19 hospice enrollments, and 16 deaths. Conclusions: The CDx clinic has been a valuable resource for patients with suspected cancer by optimizing time to diagnosis and time to treatment. Additional navigation pathways are underway to expand the CDx patient population to target a more underserved population in an effort to promote health equity in cancer care.

Social Innovation Management to Support Integrated Care: Insights from an Italian Revelatory Case Study

This research deals with Social Innovation (SI) and integrated and connected care in the hospital care, presenting a successful experience of telemedicine's implementation within the Italian context. Nowadays integrated care and connected care are relevant concepts for delivering people-centered healthcare; though their operationalization is challenging and requires accounting for systems' complexity. In this regard, SI may be a catalyst, since it consists in a kind of innovation motivated by social needs. Extant research on SI in healthcare is scant and fragmentary, overlooking operational features and enabling conditions. Considering these gaps, the paper investigates the potential contribution of SI management to integrated and connected care. For the purpose, it offers a revelatory case study, concerning the pediatric research hospital Gaslini (Genoa, Italy), which is, to our knowledge, the first Italian public hospital to have hired a SI manager. By referring to a telemedicine pilot project, the study analyzes main features of the SI management process and its approach to promote integrated and connected care. Research data are analyzed by combining Gioia methodology and systems thinking. The resulting grounded theory model is causal loops-shaped and highlights virtuous mechanisms of SI unveiling generative voids and existing skills.

Buckinghamshire’s pilot DiADeM project: Increasing the Dementia Diagnostic Rate (DDR)

Dementia is becoming increasingly prevalent, and it is estimated that by 2030, around one million people in the UK will meet the criteria for a dementia diagnosis (NHS, 2023). Obtaining a timely diagnosis can enable people living with dementia to plan for their future, with the support of family and health and social care professionals. In 2015, the UK government set a national ambition for 66.7% of the expected number of people living with dementia in a given locality in England to have a dementia diagnosis recorded on the Dementia Quality Outcome Framework (QOF) (Department of Health, 2015). Unfortunately, the Covid-19 pandemic caused a drop in dementia diagnoses in 2020 and many memory clinics have struggled to achieve the national ambition since then (Alzheimer’s Research UK, 2024). In 2022, NHS England provided funding for 14 pilot sites across the UK to set up DiADeM projects to aim to use the DiADeM tool to help increase the national Dementia Diagnosis Rate (DDR) (NHS England, 2022). This paper describes the Buckinghamshire DiADeM pilot project and expands on the current literature by providing an alternative method of using the DiADeM tool and includes a larger sample size, than the current published DiADeM studies.

158P Results of the nationwide pilot project of newborn screening for SMA in Czech Republic

158P Results of the nationwide pilot project of newborn screening for SMA in Czech Republic

Research and Development of A Comprehensive Management Platform for Intelligent Production and Construction of the Entire Process of Sulige Gas Field

Abstract The Sulige gas field is the first fully installed atmospheric field in China with an annual production capacity exceeding 30 billion cubic meters. It has the characteristics of low permeability and density, rapid development decline, and large annual compensation decline workload. As a pilot project for the regional production and construction project system in Changqing Oilfield, Sulige Gas Field Development Branch is facing problems such as a wide range of project management points, limited personnel, difficulty in engineering data collection, and tight time connection between various professional businesses. By using digital and information technology, it has developed and created a closed-loop management platform for the digital production capacity construction of the entire business chain of production and construction project drilling, testing, and investment, and constructed a multi-dimensional visual control mechanism for the entire process of a single well, Realized digital management of the operation of a single account for the entire business chain production and construction project of drilling and trial investment; Relying on operator resources to quickly and low-cost expand the basic network, achieving real-time video monitoring of multi platform drilling and testing sites, collection of construction data, and online tracking; Establish a big data model for condition analysis and early warning, and innovate the formation of a “digital+safety dual prevention mechanism” linkage management and dynamic and static risk early warning push; Develop 16 APP functions such as supporting coordinates and well site handover to achieve online flow management of production and construction business, more efficiently guide production organization and close connection of processes, and significantly improve the efficiency of production and construction organization; Creating a dedicated digital and intelligent environment for production and construction, achieving deep integration of digital and intelligent business with Oil and gas fields production and construction, further enhancing project management and collaborative combat capabilities among various specialties. The innovative digital production capacity closed-loop management of Sulige Gas Field platform realizes the full lifecycle and multidisciplinary integrated management of wellbore engineering. Its efficient digital production organization model can provide a certain reference for the organization and management of similar projects in the upstream of exploration and development.

The Earphone Project pilot: a tele-otology study for remote Aboriginal communities

The Earphone Project pilot: a tele-otology study for remote Aboriginal communities

A novel ML-MCDM-based decision support system for evaluating autonomous vehicle integration scenarios in Geneva’s public transportation

This paper proposes a novel decision-support system (DSS) to assist decision-makers in the ULTIMO project with integrating Autonomous Vehicles (AVs) in Geneva, Switzerland. Specifically, it aids in selecting the best scenario for incorporating AVs into Geneva’s public transportation system. The proposed DSS is architected on a combined integrated framework that includes a machine learning (ML) algorithm, random forest (RF) algorithm, and three novel multi-criteria decision-making (MCDM) algorithms: (1) Modified E-ARWEN (ME-ARWEN) for selecting the best scenario with high sensitivity; (2) Compromiser—Positive, Neutral, Negative (Compromiser-PNN) for extracting weights from stakeholders, considering their preferences and potential conflicts; and (3) Collective Weight Processor (CWP) for deriving weights from expert opinions. Besides the main objective, this article also aims to: (1) Address the gap in practical DSS software within AV-related studies by providing Python codes of the DSS; (2) Develop a highly sensitive and comprehensive MCDM framework to address the project’s needs; and (3) Employ Artificial Intelligence within the DSS to optimize outputs. By the application of the proposed DSS, four scenarios were evaluated: (1) Full integration of AVs; (2) Partial integration; (3) Pilot project in limited areas; and (4) Delayed integration. The analysis identified partial integration as the best scenario for integrating AVs. Furthermore, comprehensive analyses conducted to validate the DSS outputs demonstrated the reliability of the results.

DESIGNING AND IMPLEMENTING APPLIED BACHELOR'S PROGRAM: A COMPREHENSIVE DEVELOPMENT MODEL

Modern education faces the challenge of integrating theoretical knowledge with practical skills, which is particularly crucial for the training of mid-level professionals. Practice-oriented educational programs shorten the adaptation period for graduates and enhance their competitiveness in the labor market. Special attention is given to applied bachelor's programs that combine theory and practice, fostering rapid professional development of graduates. The European higher education system offers short cycles leading to a bachelor's degree. The practical focus of these programs is ensured through partnerships between educational institutions and industry organizations, enabling students to develop the professional skills required by employers. This makes applied bachelor's programs key elements of educational reforms in the EU. In Kazakhstan, applied bachelor's programs have not yet gained widespread popularity due to a lack of regulatory support, but successful pilot projects demonstrate the potential of this direction. These programs integrate theoretical and practical training, approaching education with consideration of real-world functional tasks. The need to adapt educational programs to meet the current demands of the labor market is extremely important for preparing qualified personnel. This underscores the importance of continually improving educational initiatives to develop programs that successfully combine theory with practice and meet the needs of a dynamic economic environment.

Accelerating Museum AI Research and Application at the UK Natural History Museum: The NHM AI Lab Programme

The United Kingdom's Natural History Museum (NHM) AI Lab Programme represents a pioneering initiative aimed at harnessing the power of artificial intelligence (AI) to bridge the gap between the museum's extensive collection and cutting-edge AI technologies. Despite its immense potential, the application of AI in museum research remains nascent (e.g., He et al. 2024), with some individual research groups pursuing independent projects without cohesive collaboration with AI experts who know or have experience in similar endeavours. Moreover, differing standards in utilising AI among researchers add complexity to the field. The NHM AI Lab Programme addresses these challenges by co-creating AI pilot projects that bring together the NHM's collection, academic researchers, and AI experts. The NHM AI Lab Programme serves as a nexus for interdisciplinary collaboration, offering expertise in AI, machine learning, data science, and software engineering to support NHM researchers. Through one-to-one consultations and collaborative research projects, the NHM AI Lab Programme facilitates the integration of innovative AI-driven technologies into streamlining digitisation workflows and enhancing Earth and Life Science research at the NHM. In less than a year since its inception, our Programme has achieved several milestones, hosting around 20 diverse projects. These include research projects such as the application of AI for the automatic detection and identification of nannofossils in chalk, the classification of ancient shark and dinosaur teeth, the prediction of mammal disease outbreaks, and the extraction of data from historical bird egg records. Additional projects focus on the automation of mineral analysis and the detection of secondary impact craters on planetary surfaces using AI. Some led to journal publications (e.g., He et al. 2024), while others streamlined NHM researchers' workflows, enhancing their processes of research and digitisation. Moreover, several initiatives have paved the way for new funding streams and collaborative ventures, as well as promising commercial prospects. Certain projects have pioneered the creation or transformation of datasets to meet AI-ready standards, such as data quality, consistency, accessibility, usability, and data governance protocols, helping to embed AI practices into NHM research. This AI Lab Programme can act as a model for other institutions addressing a similar challenge of bridging the gap between AI and their research and collections. This presentation provides insights into the establishment and operation of the NHM AI Lab Programme, shares experiences, highlights successful collaborations, discusses challenges encountered, and outlines future directions.

CYBERCRIME CHALLENGES: EXPERIENCE OF INTERNATIONAL COOPERATION

The study focuses on the problem of countering cybercrime in the context of the experience of international cooperation. The trend in the process of ongoing transformation from a post-industrial to an information society stands out: global informatization and digitalization of processes lead to the threat of interference in personal life, data theft, and violation of privacy. The analysis of international legal acts made it possible to conclude the need to expand cooperation between states in the fight against cybercrime under the auspices of the UN based on programmatic, strategic acts of international legal regulation of the relevant range of relations. The importance of creating and developing organizational and legislative measures to combat cybercrime, improving interaction between the competent authorities of various states, as well as the need to develop and adopt universal conventions to combat cybercrime, is noted. The authors of the article state that the large-scale growth in the volume of information transfer causes the need to ensure the maximum level of data protection, both by the interested ICT users themselves and by governments - guarantors of state information security and stability. The international legal framework provides a solution to the problem in three areas: reducing discrepancies between national laws, introducing new powers of bodies, and promoting international cooperation. It is stated that in the Republic of Kazakhstan, there are no comprehensive studies on combating cyberterrorism and cybercrime as phenomena that include the entire range of crimes that are committed today on the Internet. The study fills this gap: the activities of the legislative and law enforcement bodies of the Republic of Kazakhstan are analyzed. The authors focus on such positive aspects as the creation of the Ministry of Internal Affairs of the Republic of Kazakhstan in April 2003 of the "K" department to intensify the fight against a wide range of crimes related to computer and Internet technologies, including cyberbullying, the production of counterfeit video discs, the dissemination of information that contributes to extremism, terrorism, cruelty, and violence. Chapter 7 of the Criminal Code of the Republic of Kazakhstan, devoted to criminal offenses in the field of informatization and communications, was subjected to scientific turnover; Cybersecurity Concept ("Cyber Shield of Kazakhstan"); a pilot project of 2023, which launched a special cyber police unit "Cyberpol Strike Task Force" to protect citizens and businesses of the country from cyber threats.

Redesigning Community Dwelling Geriatric Integrated Care Program for Better Care Co-Ordination and Health Outcomes

Abstract Background Existing health services and care models need to adapt to the increasing ageing population, multimorbidity, and frailty. Thus, diverse healthcare providers and caregivers are demanded to continue living at home. An Integrated Care Program, involving a multidisciplinary team with a patient-centred focus, is being promoted as an alternative model of care. However, uncoordinated existing services put them at risk of fragmented care, leading to adverse outcomes. This study aimed to fill gaps in previous ICP research by introducing a change roadmap into the implementation phase of the program. In addition, the study proposed evaluating the effectiveness and implementation of the pilot project together with the process evaluation. Methods The study conducted a systematised literature review to examine the outcomes and different structures of the ICP. Implementation Science was utilised to define, design, and deliver the model of change. Results A systematised literature review showed that most ICPs were led by an Advanced Nurse Practitioner with positive outcomes. SWOT analysis, stakeholders’ involvement, existing community service providers, and a population survey provide an in-depth perspective of the target population and set up contextually adapted implementation strategies. An ANP-led MDT was proposed to co-ordinate the ICP. A process evaluation to assess the care model together with health outcomes was outlined. Conclusion The study showed that ANP-led MDT, person-centred, co-ordinated care provides the best ICP implementation strategy. The study will further understand the ICP implementation process among frail older people in the community.

Implementation of INEWS to Improve Patient Outcomes in a Community Hospital

Abstract Background It is imperative to identify at risk older patients with clinical deterioration as soon as possible. The Irish National Early Warning System (INEWS)1 is used to detect clinical deterioration at an early stage based on each patient's vital sign records. It can then initiate a communication mechanism between nurses and doctors to enable early patient care. Data on the effectiveness of the INEWS in patients admitted to community rehabilitation wards, the barriers and difficulties encountered during implementation, are still scarce, despite the development and implementation in acute settings. There are not enough standardised tool available to identify patients' deterioration for community hospitals. Methods This pilot quality improvement programme was conducted in a community hospital's rehabilitation section. Data were gathered seven weeks after the deployment of INEWS and fourteen weeks before. Issues were studied to determine the underlying cause, created a driver diagram to comprehend the factors that lead to unexpected outcomes, educated and gathered feedback from the clinical care teams involved, measured adherence to the INEWS during the six-week pilot project implementation period, and assessed results by looking back at the deteriorating patient data and INEWS compliance using Plan, Do, Study, Act cycles. Results During the pre-INEWS introduction phase (14 weeks), there were 11.9 events per week (7.8 events with infection or septic workups, 9.6 events with onsite management, 1.0 acute care transfers, 0.28 per week unexpected deaths). In the post-INEWS piloting phase (6 weeks), there were 3.6 events per week (2.5 infection or septic workup, 1.8 onsite management and 1.1 acute care transfers per week with no unexpected deaths). Conclusion Conclusion Early detection and rapid management through the INEWS can enhance patient care; however, increased stakeholder engagement in escalation response may enhance patient outcome in resource limited community setting. Reference https://www2.healthservice.hse.ie/organisation/qps-improvement/deteriorating-patient-improvement-programme-partnership-dpipp/

An Occupational Therapy Functional Upper Limb Group Programme on the Acute Stroke Unit: A 3 Month Pilot

Abstract Background The 2023 National Clinical Guidelines for Stroke recommend that stroke survivors with motor recovery goals should receive a minimum of 3 hours of rehabilitation 5/7 days a week (National Clinical Guideline for Stroke for the UK and Ireland, 2023). Schneider et al (2019) deem it feasible for stroke survivors to undertake extra upper limb practice (including group sessions) to support in achieving upper limb motor recovery goals. With staffing limitations, creative methods of intervention delivery must be adopted to enhance usual intervention sessions. Methods In an Irish hospital, a pilot project hypothesised the benefit of two one-hour Occupational Therapy functional upper limb group intervention sessions to support adherence to effective weekly dosage of upper limb motor recovery. An audit was completed on dosage of usual Occupational Therapy intervention, prior to group formation. Seven patients were identified with an average daily dosage of 35.4 minutes of usual intervention (5/7 days a week). Two one-hour group sessions were adopted in conjunction with usual therapy. Group intervention dosage was recorded. Patient self-reported satisfaction was obtained using a ten-point Likert scale. Results A total of twenty-nine patients, over 3 months, attended Occupational Therapy upper limb group interventions during an admission on the Acute Stroke Unit. The addition of two one-hour group intervention sessions supported an average actual increase in dosage of 113 extra minutes per week (36.15% increase). There was a 95% self-reported satisfaction rate among patients. Conclusion The addition of two one-hour Occupational Therapy functional upper limb groups increased upper limb motor recovery dosage by 113 minutes per week. Group intervention was a feasible tool that can be used on an Acute Stroke Unit in conjunction with usual therapy to support motor recovery guideline adherence and patient satisfaction. Despite these efforts, patients are not receiving the recommended daily intensity as highlighted by National Clinical Guidelines.

Will large-scale low-carbon guidance activities improve residents’ green living standards? Evidence from China

In order to address the escalating climate change crisis and meet Net-Zero Emission targets, it is necessary to form a widespread green lifestyle as soon as possible. Based on annual panel data at the provincial level in China from 2008 to 2019, this paper systematically explores the impact of large-scale guidance activities on residents' green lifestyles by constructing a multi-period DID model. The results show that the national low-carbon pilot significantly improves the green living standards of residents, and these results remain robust after various rigorous tests. In addition, the results of heterogeneity analysis show that in areas with higher income levels and education levels, the low-carbon pilot projects have a better impact on improving residents' green lifestyles. Furthermore, this paper reveals that residents' environmental awareness and regional green innovation levels significantly and positively moderate the impact of the pilot projects on residents’ green lifestyles. This study expands our understanding of the mechanisms driving a green lifestyle, offering valuable insights for governments aiming to promote widespread adoption of green practices and formulate effective policies.

Xq12q13.2 duplication detected in a child in selective exome screening

Background. Within the framework of the regional pilot project on selective exome screening of newborn children, which is carried out on the basis of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, we conducted molecular genetic testing of children who meet the criteria for inclusion in the increased group of hereditary diseases. We examine not only children with suspected genetic etiology of the condition, but also children with borderline clinical and laboratory manifestations and minor developmental anomalies.The aim of the study. To describe the clinical and phenotypic features of a patient with a previously undescribed Xq12q13.2 duplication detected in the neonatal period.Materials and methods. The child was examined within the framework of a regional pilot project on selective exome screening of newborn children. DNA was isolated from a biological sample of venous blood of the newborn, and whole exome sequencing and chromosomal microarray analysis were performed. Signed informed voluntary consent for the publication of the examination data and a photograph of the child were obtained from the legal representatives of the proband.Results. Data in favor of the presence of a previously undescribed Xq12q13.2 duplication, confirmed by the reference method were obtained in a patient included in the project in accordance with the clinical criteria for the formation of a risk group according to the data of the conducted whole exome sequencing. Discussion. Xq12q13.2 duplication was detected in the proband from the present clinical observation with non-specific clinical manifestations in the neonatal period. Similar duplications have been described in the literature in three patients with congenital malformations, epilepsy and psychomotor retardation. Early diagnosis of such a copy number variation disorder before the appearance of severe clinical signs of the disease will allow determining the prognosis and tactics of observation and treatment of the patient.Conclusion. The described case of Xq12q13.2 duplication in a patient demonstrates the importance of timely genetic analysis to optimize medical genetic counseling, reduce diagnostic search and improve prognosis for patients.

Current problems of using artificial intelligence inHR management in Kazakhstan

The article provides an understanding of artificial intelligence in the field of HR, and it is said that the digitization of the industry is reflected in the widespread use of artificial intelligence. The theory and history of the field of artificial intelligence is systematized by reviewing the works of researchers. The possibilities of using artificial intelligence are clarified and its efficiency is considered. As a result of the study, it was determined that artificial intelligence is used in four main categories in the field of HR, and it was found that there is a high demand for automated resume search, analysis, and selection services. At the same time, in order to invite candidates for a vacant position, including the identification of qualified talented employees, chatbots, Skype interviews, the use of information on online recruiting platforms such as HeadHunter, notification of vacancies at fairs, and pilot projects introduced by the state will be analyzed. The features of artificial intelligence programs introduced in the Kazakhstan labor exchange, and changes brought to the HR system, the advantages and disadvantages will be discussed. Especially as the most effective programs in the field of artificial intelligence in recent years: IBM's Deep Blue program, Alvinn program for driving, and Microsoft Application and Services Group's talking robot program, the importance of research on the specificity of programs in the field of medicine and pharmaceuticals will be analyzed and considered as examples of regional enterprises.