Unsuccessful Attempts Research Articles

The Evolution of the State as a Process of Increment and Loss of Territory in the Context of the Implementation of the People’s Right to Reunification

The article considers a particular case of the evolution of state formations in the process of the increment and loss of territories, caused by the implementation of the people’s right to reunification. It analyzes successful and unsuccessful attempts to implement the people’s right to reunification while the states are returning their historical territories and realizing the policy of irredentism. The author analyzes the historiography of the issue in Russia, Eurasia and Africa, examines various cases of accession of territories in the XVIIXXI centuries, including the reunification the Crimea, Sevastopol, Donetsk and Lugansk People’s Republics, Zaporozhye and Kherson regions with Russia. The author substantiates the need to amend the Foreign Policy Concept of the Russian Federation, providing for the right of Russia to return historical territories in the case of discrimination of the Russianspeaking population, manifestations of neo-Nazism and Russophobia.

Issues in reproductive health in chromosome translocation carriers

BACKGROUND: It is common a wide range of reproductive disorders in couples with structural chromosome aberration in one of the partners, such as infertility, miscarriage, unsuccessful assisted reproductive technologies attempts. In this regard, predicting the reproductive outcome in a particular couple is an extremely difficult task. To solve it, it is necessary to consider the influence of many factors, including the type of chromosome translocation and the carriers sex.
 AIM: To evaluate the structure of reproductive disorders in couples where one of the partners was a chromosome translocation carrier, depending on its type: Robertsonian or reciprocal, and carriers sex.
 MATERIALS AND METHODS: In this retrospective cohort study, we analyzed the clinical and anamnestic data of 100 couples where one of the partners was a chromosome translocation carrier. Couples applied to fertility centers between March 2009 and May 2019. To assess the effect of the type of chromosomal translocation and carriers sex, we provided intergroup comparisons.
 RESULTS: Comparative analysis of somatic pathology and chronic gynecological diseases didnt reveal significant differences between groups of female patients (Fischers exact test, p 0,05). An intergroup comparison of reproductive outcomes in couples divided by the type of chromosome translocation: reciprocal or Robertsonian, and the carriers sex, detected significant differences. Primary infertility was significantly more often detected in couples with a male translocation carrier, secondary with a female carrier (Fishers exact test, p = 0,01). Pregnancy significantly more frequent occurred and, it was also significantly more often spontaneously interrupted in couples with a female carrying of reciprocal or Robertson translocation (2 = 13,29, df = 3, p = 0,004). Thus, a female carrying a chromosomal translocation is characterized by a greater risk of miscarriage.
 CONCLUSIONS: The chromosome translocation type and the carriers sex have a differential effect on the nature of reproductive disorders. Female carrying a chromosomal translocation increases the likelihood of both pregnancy and its spontaneous termination. In contrast, in couples with a male translocation carrier, the probability of both pregnancy and miscarriage is lower. Thus, the type of translocation and the carriers sex determine the individual risks of reproductive disorders, including infertility and miscarriage, which should be considered in the planning, choosing the method of onset and management of pregnancy.

An Easy Solution for Difficult Urethral Catheter: Three-Way Urethral Catheter Insertion Using a Guidewire Technique.

Urethral catheter insertion is a skill taught to all medical students but often not practised for a multitude of reasons. The difficult catheter can be a clinical nightmare for the junior doctor, especially on call, and can lead to significant mortality and morbidity with suboptimal repeated attempts. The incorporation of a soft-tipped hydrophilic guidewire technique for the insertion of a two-way urethral catheterhas been described in the literature and has the potential to reduce the morbidity and mortality of patients by making the insertion of a catheter less traumatic. Here, we propose and describe the insertion of a three-way urethral catheter, performed using the technique employed for the insertion of a two-way urinary catheter via the use of a hydrophilic guidewire, with similar outcomes. A hydrophilic soft-tipped guidewire to insert a three-way urethral catheter can be used in the wards, in the emergency department, and in a theatre setting. The district hospital in which this method was employed demonstrated a 100% success rate in the insertion of a urethral catheter (N = 15), with 26% of cases (four patients out of 15) having a three-way urethral catheter inserted using the soft-tipped hydrophilic guidewire method. Follow-ups of these patients showed that there were no complications or adverse effects experienced by the patients. The use of a soft-tipped guidewire approach to insert a difficult urethral catheter can reduce the financial burden on the healthcare system by eliminating costs due to harm/trauma caused by repeated unsuccessful urethral catheter attempts or those attempts that have been performed suboptimally and have led to potential patient harm. The use of a hydrophilic guidewire-assisted technique to insert a three-way urinary catheter is a safe and easy option for those who have had repeated unsuccessful attempts. The hydrophilic guidewire approach has the potential to reduce morbidity and mortality associated with urethral catheterisation and improve patient safety.

122 A SWORD IN THE STONE - A STEMI AFTER MIAVR

Abstract Background Minimally invasive aortic valve replacement (MIAVR) is defined as a surgical aortic valve replacement which involves smaller chest incisions (mini-sternotomy and right anterior mini-thoracotomy approaches) and minimized degree of surgical intrusiveness. Compared with conventional surgery, it has been shown to reduce postoperative mortality, providing faster and shorter recovery, requires less rehabilitations resources and consequently cost reduction. Even though MIAVR has considered as a safe and acceptable surgical technique, higher learning curve and requirement for re-training should be endorsed as procedural limitations. Among procedural related complications, embolic events still remain the most serious. Clinical case A 70-year-old man, due to increasing dyspnea and chest pain came to emergency department. His medical history was notable for cigarettes smoke, dyslipidemia, non insuline dependent type 2 diabetes mellitus and hypertension. No abnormal electrocardiografic alterations. A transtoracic echocardiogram was performed showing, Left ventricular ejection fraction 50%, no wall motion abnormalities and thickened, ipomobil and calcified aortic valve cusps assessing a diagnosis of severe aortic stenosis. He was conducted to the cath-lab for a diagnostic coronary angiogram which showed a no-significant atherosclerotic disease. After Heart Team evaluation, MIAVR was the suitable and optimal management indicated for the patient. Four hours after ending surgical procedure, ST segment elevation suddenly appears on DII, DIII and aVF leads. Emergency coronary angiogram showed an acute occlusion of the proximal circumflex artery. After several unsuccessful attempts to cross the occlusion with different types of workhorse guidewires, we considered the cause of uncrossability was not a thrombus but a debris calcium embolus detached from valve apparatus. After failed attempts using FineCross, SuperCross 90° provided adequate support to gaining access and enhancing the penetrating power of guidewire; we put the guidewire distally through the Mo2 with partial flow regain. Then we proceeded to modify the plaque geometry with a NC balloon to help crossing guidewire through distal Cx. So we’ve passed over the lesion gaining Cx periphery with a Fielder XT guidewire and we’ve proceeded to prepare the lesion thorugh progressive NC balloon dilatations. At the end we’ve implanted a 3.5/15 mm DES on mid Cx. Conclusion As MIAVR has being more common in the last twenty years, it is useful knowing how to manage any possible related peri-operative complications. Calcific valve is a very uncommon source of coronary debirs embolization. Coronary embolism is associated to worse outcomes: early diagnosis and revascularization must be required. Knowledge of CTO techniques and materials (guidewires, microcatheters) for a “non-CTO” dedicated operators could be useful in several scenarios, such as that encountered in the present case.

Headache research in 2022: advances and remaining challenges

Drugs targeting the calcitonin gene-related peptide (CGRP) pathway have transformed the management of migraine. Several publications have shown the efficacy of monoclonal antibodies to CGRP or its receptor for prophylaxis of difficult-to-treat migraine. In 2022, this work was complemented by a study of intravenous eptinezumab in patients with 2–4 previous unsuccessful attempts at prophylactic treatment.1 In line with data from studies with erenumab, galcanezumab, and fremanezumab, a single infusion of 100 mg or 300 mg eptinezumab led to a significant reduction in monthly migraine days compared with the placebo group during the 12-week double-blind observation period (difference from placebo –2·7 days [95% CI –3·4 to –2·0] with 100 mg eptinezumab and –3·2 days [–3·9 to –2·5] with 300 mg eptinezumab).

User experience and information architecture of the National Digital Library and archives of Iran: a usability investigation and card sorting

PurposeThis study aims to evaluate the usability and information architecture of the digital library (DL) website of the National Library and Archives of Iran (NLAI).Design/methodology/approachThis applied study used an exploratory mixed method, card sorting. Data were collected by interviewing, observation, usability test and card sorting. By interviewing users about problems of the DL, eight tasks were predefined and users’ problems in the path were identified. Their satisfaction of the tasks and the usability rates were measured via a questionnaire. Card sorting was done to inform on the information organization of the website elements. The study population included all users of the DL of the NLAI in two groups: ten initiator users (public users) and ten expert users (librarians). SPSS was used for analysing the usability test quantitative data. MaxQda was applied for analysing interview-driven qualitative data. Qualitative content analysis, categorization (data organization and grouping) and determining main and secondary codes were applied as well. The sort optimal application was used for analysing card sorting data in the form of similarity matrix and dendrogram. For validating qualitative findings, triangulation was used. The internal reliability of the used questionnaire amounted to a = 0.87FindingsRegarding the assigned tasks, new initiator users by consuming 367.67 s for registering and new expert users by consuming 403 s spent the most time. Task 2 ranked first in being incomplete among 40% of initiator users and Task 3 ranked first by 30% of incompleteness. Expert users had more unsuccessful attempts. Task 5 with the mean rate of 3.35 and Task 8 with the mean rate of 2.25 were the most difficult and the easiest tasks, respectively. Some usability components were rated lower than the moderate point. Only 30% of initiator users and 10% of expert users were satisfied with the website. A total of 12 categories and 452 codes were identified as main problems of the DL. The problems related to a vague perception of concepts and labels with 90 repetitions and digital source display with six repetitions ranked as the first and the last problems in working with the DL, respectively. The sort optimal package produced the card sorting results as a matrix similarity and a dendrogram. Card sorting reflected some changes in organizing information items. Interviews after card sorting emerged some new groups to be included, such as links to other digital libraries, shared databases in the organization and frequently asked questions.Originality/valueThe library’s website should be designed in a manner so that it can satisfy users with different traits. As the information technologies are increasingly developing, the importance of such a design increases for better service provision and effective competition.

A Qualitative Analysis of College Students’ Vape Product Use and How to Help Overcome Barriers to Cessation

Using a formative research approach, this qualitative study examined knowledge and perceptions of e-cigarette use among college students. The study utilized the transtheoretical model to gain a deeper understanding of college students’ reasons for using e-cigarettes, readiness to quit, and barriers to cessation. Individual semi-structured interviews were conducted among 19 college students aged 21-53 years old from a large university in the Pacific region of the United States, who self- identified as current e-cigarette users. The study results indicated that participants’ initial e-cigarette use was influenced by their peers, an attraction to flavored products and the convenience associated with use. The majority of participants reported having knowledge of the negative health effects of e-cigarettes, primarily through social media. The vast majority of participants reported one or more unsuccessful quit attempts and that they attempted to quit on their own without cessation support. The study findings demonstrate the importance of developing cessation programs for college students with a peer group focus, as well as using social media as a platform to provide cessation support. Incorporating the transtheoretical model into these programs could also enable college students to understand the e-cigarette cessation process and increase their confidence and motivation to quit.

Assessment Briefs

Assessment Briefs

Aetiology of long bone chronic osteomyelitis: an analysis of the current situation in one region in Egypt

IntroductionChronic osteomyelitis (COM) is a devastating infection requiring a multidisciplinary approach, including radiology, microbiology, pathology, and orthopaedic surgery to treat. The present study analysed the bacterial profile causing chronic osteomyelitis and their antibiogram in our region.Patients and methodsThis prospective study was done on a consecutive group of patients who underwent surgical debridement for long bone COM. Three to six deep tissue samples were collected during the index debridement for microbiology and one sample for histopathology. Antimicrobial sensitivity testing used an automated bacterial identification system. Gram stain was used to identify the bacteria type from its size, shape, and arrangement of bacterial growth.ResultsIntra-operative deep tissue and bone specimens accurately identified causative bacteria in 84.8% of patients. Gram-ve bacilli (GNB) were the most common causative organisms in 51.6% of all growing samples (36.4% isolated G-ve and 15.2% mixed with G + ve). Thirty-three patients (30 males/three females) were included; the mean age at index debridement surgery was 37.1 years. Half of the cohort had no metalwork. The aetiology of COM was post-operative infection in half of the patients.ConclusionThere may be concerning features in our patients’ aetiologies and causative organisms; closed fractures turn into COM postoperatively, several unsuccessful attempts, delayed index debridement, and more GNB. Plans need to be applied to break the cycle and improve outcomes.

Prenatal testing, disability equality, and the limits of the law

This article will review reasons why it is argued that the law on abortion on the grounds of disability is discriminatory, as well as recent unsuccessful attempts to address this discrimination in the law. These attempts include ones which would have moderately restricted access to abortion in certain limited cases, and another that might have opened to door to a number of different possibilities, including both to options that could have restricted access to abortion, and to other options that might have increased access. Finally, this article will also examine reasons why some of the most important challenges surrounding disability equality cannot be sufficiently addressed through legal change alone. While there are strong reasons to support some form of change in the law, a more foundational change in values is necessary if we want to live in a more ethical society that is truly capable of welcoming disabled children.

Abstract 12999: Persistent Left Superior Vena Cava Draining Directly Into Left Atrium With Occluded Coronary Sinus: A Rare Incidental Finding

Case presentation: A 43-year-old lady with pacing induced cardiomyopathy presented for pacemaker (PM) revision to biventricular PM. Medical history included complete heart block with dual-chamber PM, supraventricular tachycardia, and ventricular septal defect repair. During the procedure, numerous unsuccessful attempts were made to access the right atrium (RA) using a deflectable catheter through the left subclavian vein. Left upper extremity venography exhibited a persistent left superior vena cava (PLSVC) suspected to be entering RA through the coronary sinus (CS). Navigation of the CS was unsuccessful. As a result, the procedure was aborted, and the patient was admitted for further cardiac imaging evaluation. Transesophageal echocardiography demonstrated an abnormal blood vessel between left atrial appendage and left upper pulmonary vein. Findings confirmed with agitated saline injection into left arm. This rang a concern for unroofed coronary sinus. Surprisingly, cardiac computed tomography angiograms and left upper extremity venogram images revealed a PLSVC draining into left atrium (LA) posteriorly. Normal anatomy of the right-sided superior vena cava (RSVC). Also, a CS atresia and coronary venous drainage to LA inferiorly. Discussion: PLSVC is a rare cardiac anomaly with estimated prevalence of 0.2% - 3% among general population. Commonly PLSVC drains into RA through expanded CS and rarely into LA through unroofed CS. Uniquely like our patient, the PLSVC drains directly into the LA with atretic CS and no interatrial communication. PLSVC is usually asymptomatic and detected incidentally during invasive cardiac procedures. Despite existence of right to left shunt, patient was maintaining normal oxygen saturation even after a treadmill stress test. Crowdedness of the RSVC with previously implanted leads is likely the reason for failed passage of the catheter to RA. Cardiac arrhythmias and paradoxical embolization were reported with PLSVC.

Comparing Propofol With Fentanyl and Midazolam for Sedation in Closed Reductions of Traumatic Hip Dislocations.

Traumatic native hip dislocations require prompt reduction of the dislocation to limit the risk of avascular necrosis and resultant hip arthrosis. Although closed reduction under sedation is frequently attempted, there is minimal evidence about which sedative agent is most safe and effective. The goal of this study was to compare the efficacy of propofol vs combination fentanyl/midazolam for closed reduction under sedation of traumatic native hip dislocations. This was a single-center retrospective review. The main outcome measures were the rate of successful closed reduction with propofol vs combination fentanyl/midazolam and time from the start of sedation to radiographic evidence of reduction. Fifty-four patients with traumatic native hip dislocations were identified. Closed reduction under sedation with propofol was successful in 11 of 14 attempts compared with 4 of 11 attempts with combination fentanyl/midazolam (P=.04). The fentanyl/midazolam group had 6.4 times the odds (95% CI, 1.1-37.7) of failed closed reduction compared with the propofol group. The median time to reduction in the propofol group was 14 minutes vs 45 minutes for the fentanyl/midazolam group (P=.18). Patients who had failed closed reduction with fentanyl/midazolam had a median time to reduction of 100 minutes. There was no difference in sedation-related complications between the 2 groups. We therefore conclude that sedation with propofol is significantly more effective than combination fentanyl/midazolam for closed reduction of native hip dislocations. To minimize unsuccessful reduction attempts and shorten total time to reduction, we recommend against the use of combination fentanyl/midazolam because of the high risk of failure. [Orthopedics. 2023;46(2):86-92.].

Second Language knowledge of pragmatic meanings: What do learners of Korean know about the Korean pronouns ce and na?

In this study, we examined two related aspects in pragmatic knowledge: namely, knowledge of the contexts in which certain linguistic forms are prototypically used (i.e. form-context mappings), and the indexical meanings which are produced when a form is used in a particular context. We employed one-to-one metapragmatic interviews with 30 L1 Korean speakers, 28 L2 Korean learners in the UK as well as eight group interviews with 26 of the learners. The interviews focused on the participants’ understanding of the Korean first-person honorific pronoun ce in relation to its non-honorific equivalent na. The findings revealed that, while the learners’ understanding of the contexts in which ce is normally used was fairly similar to L1 speakers, the indexical meanings that they associated with the form-context mappings differed saliently from that of L1 speakers. In addition, the learners struggled to align with the L1 speakers’ meaning interpretations and made unsuccessful attempts to incorporate them into their existing indexical systems. The findings thus demonstrate that form-context mappings represent only one part of L2 learners’ pragmatic competence. Future research and pedagogical efforts are encouraged to take into consideration the indexical meanings that underly language usage and help learners make more informed linguistic choices.

“Rosetta Stone”: One or More? Examples of Multilingualism Texts and the Deciphering of Ancient Scripts

The decipherment of ancient languages and scripts was a challenging mission for linguists and philologists. There are successful and unsuccessful attempts to decipher ancient and famous languages, of which is the Egyptian hieroglyphs. In 1822, Champollion announced in the Académie des Inscriptions et Belles-Lettres his innovative methodology to read ancient Egyptian hieroglyphs when he could read the three scripts of the Rosetta Stone: Hieroglyphic, Demotic, and Greek. Champollion’s theory is based on finding a multi-script or multi-script text that is used as an aiding tool to read and decipher the required scripts. Thus, this paper sheds fresh light on the role of multilingualism in decoding ancient scripts. It is worth mentioning that the “Rosetta Stone” became an equivalent term of an assistance tool to crack ancient languages and scripts, giving examples of famous texts such as the Behistun Inscription and the manuscript copy of Landa alphabet.

Assessment of Kratom Use Disorder and Withdrawal Among an Online Convenience Sample of US Adults.

Since 2007, kratom use in the United States has increased, centered around nonmedical self-treatment of pain, psychiatric, and substance use disorder symptoms. Reports of kratom withdrawal have emerged amidst description of therapeutic effects, yet we know little about disordered use. Our objective was to assess Diagnostic and Statistical Manual-5 substance use disorder for kratom ("kratom use disorder," KUD) and examine kratom withdrawal symptoms among those who ever used regularly. We also sought to identify clinical characteristics of respondents who qualified for current, remitted, or never KUD. Between April and May 2021, we re-recruited online respondents who reported lifetime kratom use on an unrelated survey into our cross-sectional kratom survey study, permitting a diverse sample of current and former kratom-using persons. A total of 129/289 (44.6%) evaluable surveys were obtained. Over half (52.7%) of respondents never met KUD diagnostic criteria; 17.8% were assessed remitted, and 29.5% met current (past-year) KUD threshold. For past-year KUD, severity was: 14.0% mild, 7.0% moderate, and 8.5% severe. Pain, psychiatric symptoms, and polydrug use were found across all groups. KUD symptoms reflected increased use, tolerance, withdrawal, unsuccessful quit attempts, and craving; 9.3% reported decreases in important social, occupational, or recreational activities because of use. Withdrawal symptoms were moderate and included gastrointestinal upset, restlessness, anxiety, irritability, fatigue/low energy, and craving. As assessed here, tolerance and withdrawal are primary KUD features rather than psychosocial impairments. As kratomis often used among persons with a myriad of health conditions, clinicians should be aware of and assess for kratom use and withdrawal.

Comparison of the Effects of GMCSF-Containing and Traditional Culture Media on Embryo Development and Pregnancy Success Rates.

The use of granulocyte macrophage colony-stimulating factor (GM-CSF)-containing medium, which is a commercial medium that is used for cultivation of embryos in in vitro fertilization (IVF) treatments, has been suggested to increase the efficiency of this procedure in patients with previous multiple unsuccessful attempts. In this retrospective study, we analyzed GM-CSF-containing embryo culture media compared with traditional culture media in terms of development of embryos, pregnancy, and ongoing pregnancy success and live birth rates. This is a prospective case control study conducted in a single center. A total of 131 unexplained infertility patients were included in the study. A cohort of 69 patients whose embryos were cultured in GM-CSF-containing medium and a control group of 62 age-matched patients whose embryos were cultured in conventional Sage One Step medium were included in the study. The major study outcomes were achievement of pregnancy and ongoing pregnancy rate at 12 weeks of gestation. The pregnancy and ongoing pregnancy rates of the patients whose embryos were cultured in GM-CSF-containing medium were 39.13% and 36.23%, respectively. These were higher than the rates of the control group, which were 30.65% and 29.03%, respectively, although this difference was not statistically significant. In addition, the 5th-day embryo transfer percentage in the GM-CSF group was higher than in the control group (34.78% versus 27.4%). The main findings of our study were that there was no difference between the GM-CSF-enhanced medium and the control group in terms of our major study outcomes. However, blastomere inequality rate and embryo fragmentation rates were lower in the GM-CSF group.

From a Cycle to a Period: The Potential Role of BDNF as Plasticity and Phase-Specific Biomarker in Cocaine Use Disorder.

Cocaine Use Disorder (CUD) is one of the diseases with the greatest social and health impact, due to the high cost of rehabilitation management and the high risk of dangerous behavior and relapse. This pathology frequently leads to unsuccessful attempts to interrupt the consumption, resulting in relapses and a vicious cycle of binge/intoxication, withdrawal/negative affect, and preoccupation/ anticipation (craving). The alternation of these phases in addiction was well illustrated by Koob and colleagues in the so-called "addictive cycle", which nowadays represents a landmark in the addiction field. Recently, there has been a surge of interest in the worldwide literature for biomarkers that might explain the different stages of addiction, and one of the most studied biomarkers is, without a doubt, Brain-derived Neurotrophic Factor (BDNF). In this perspective article, we discuss the potential role of BDNF as biomarker of the CUD phases described in the "Addictive Cycle", speculating about the close relationship between BDNF fluctuations and the clinical course of CUD. We also discuss BDNF's potential role as "staging" biomarker, predicting the progression of the disease. Finding valuable biomarkers of CUD severity and disease stage could shift clinicians' focus away from behavioral symptomatic treatment and toward a novel brain-based approach, allowing for the development of more effective and targeted therapeutic strategies, thus determining major benefits for CUD patients.

Israeli-Palestinian Conflict Beyond Resolution: A Critical Assessment

Of all the inter-state conflict currently happening in different regions of the world, the Israel- Palestine conflict has stood the test of time to become one of the longest and most impactful. Despite numerous attempts to resolve the Israeli-Palestinian conflict, both parties have persisted, mainly showing a lack of compromise and commitment. This paper aims to analyze the underlying reason to the various unsuccessful attempts of Israel-Palestine conflict resolutions. This paper argues that there are four core issues that become object of negotiation in each attempt: borders, security, Jerusalem, and refugees. This paper assesses each party’s stances on these four issues and how they shape the negotiation process. This is done through an empirical generalization by inductive methodology, using library studies as a data collection method. This paper concludes that there should be an ideational change to compromise within the domestic politics of both parties to make future conflict resolution possible.

Whole-exome sequencing of patients with juvenile myoclonic epilepsy

Background. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME, aggravated epilepsy-related heredity is often detected. However, specific genetic variants of JME predisposition remain inconclusive. The use of contemporary methods of genetic analysis, particularly whole-exome and whole-genome sequencing, allows to detect, confirm and strengthen an association of any certain pathological phenotype with one or another pathogenic variant in a number of genes.Objective: to analyze the results of whole exome sequencing in patients with JME and seek for JME associations.Material and methods. The study included 7 patients with established JME diagnosis and 1 proband child without clinical signs of epilepsy. Whole exome sequencing was carried out by using MiSeq (Illumina, USA), bioinformatics analysis was performed on the Genomenal platform (Novel Software Systems, Russia).Results. Heterozygous carriage of pathogenic variants in the genes of recessive diseases was revealed: SACS, AHI1, CEP164, ANO10, RMND1, POMGNT1, FLG, ACTB. The analysis of the identified genetic variants in the patients examined showed no association with the clinical picture of the disease. Heterozygous missense mutations in CLCN2, EFHC1, JRK, ME2 genes and frameshift mutation in the CACNB4 gene were detected. Conclusion. In recent years, significant efforts were made to identify genes which predispose to JME. During our study, monogenic and/or polygenic pathogenic variants in patients with JME and a child of proband with JME were not identified. The high genetic heterogeneity of JME can explain numerous unsuccessful attempts to find genes predisposing to JME. Further research is necessary to confirm variants associated with potential JME. Advances in genomic technology can expand our understanding of the genetics of this pathology.

Peculiarities of Housing and Communal Services and the Difficulties of Implementing Energy-Saving Technologies: The Case of Kazakhstan

The article considers the problems arising in the implementation of energy-saving technologies in the housing and communal services sector of Kazakhstan, including the example of specific situations. Despite the global trend of energy saving and increasing the energy efficiency of production and service provision, there is almost no introduction of energy-saving technologies by utility companies in Kazakhstan. After reviewing the experience of the previous 10 years and the unsuccessful attempts of Western manufacturers to enter this market, we identified the reasons for this situation, namely, the need to identify the exact institutional need for implementation with reference to the Kazakhstan regulatory framework, the need to consider the financial effect of the projects, not according to the prices of the producing countries (which are usually Western countries, where utility bills are much higher) but the Kazakhstan energy prices and/or tariffs for the necessary resources, as well as the necessity to calculate the economic and/or social effectiveness of the project. The authors present the results of the analysis of public utilities of Kazakhstan as DMUs (decision-making units). Data envelopment analysis (DEA) was chosen as the method of analysis, which allows for a nonparametric evaluation of economic agents by several input and output parameters. The authors also propose aspects of technical policy aimed at the development of energy conservation in Kazakhstan.