bluuebunny/crossref_metadata_2025 huggingface dataset:
Whole genome analysis of alternative splicing in human placental decidual cells
Authors: М.М. Гавриленко, , А.А. Бабовская, , А.А. Зарубин, , Е.А. Трифонова, , В.А. Степанов,
Published: January 2023

Альтернативный сплайсинг (АС) мРНК является ключевым этапом посттранскрипционной регуляции экспрессии генов, который обеспечивает формирование тканеспецифичных и клеткоспецифичных изоформ РНК. Вероятно, этот механизм оказывает значительное влияние на развитие и функционирование плаценты. В качестве объекта исследования выбраны децидуальные клетки (ДК), которые играют важную роль в поддержании физиологической гестации. Проведено глубокое полнотранскриптомное секвенирование РНК ДК образцов плацентарной ткани, полученных от пациенток с физиологическом течением беременности, в ходе которого идентифицированы 151233 события АС в 352 генах. Примечательно, что только 130 генов характеризовались двумя и более событиями АС. Данные гены вовлечены в канонический сигнальный путь Wnt, регуляцию субстрат-зависимой миграции клеток, активацию андрогенных рецепторов, сплайсинг мРНК. Максимальное число альтернативных событий установлено для гена FN1, продукт которого ассоциирован с развитием преэклампсии и является скрининговым маркером преждевременных родов. Исследование продемонстрировало перспективность дальнейшего изучения распределения альтернативно сплайсированных изоформ гена FN1 в группе пациенток как с физиологической беременностью, так и в когорте с акушерской патологией.

Alternative splicing (AS) of mRNA is a key stage of post-transcriptional regulation of gene expression, which ensures the expression of various isoforms of RNA. Probably, this mechanism plays an important role in the development and functioning of the placenta. Decidual cells (DC) were chosen as the object of research due to their key role in physiological pregnancy. Whole transcriptome sequencing of DC RNA of placental tissue samples obtained from patients with the physiological pregnancy was performed, during which 151233 AS events in 352 genes were identified. It is noteworthy that two or more AS events characterized only 130 genes. These genes are involved in the canonical Wnt signaling pathway, regulation of substrate-dependent cell migration, activation of androgen receptors, and mRNA splicing. The maximum number of alternative events per gene established for the FN1 gene, the product of which is associated with the development of preeclampsia and is a screening marker of premature birth. The study suggests the prospects for further exploring of the distribution of alternatively spliced isoforms of the FN1 gene in a cohort of patients with both physiological pregnancy and obstetric pathology.
The effect of genes regulating glutamatergic and GABAergic neurotransmission in working memory
Authors: Р. Ф. Еникеева, , А. В. Казанцева, , Ю. Д. Давыдова, , Р. Н. Мустафин, , М.М. Лобаскова, , С.Б. Малых, , Э.К. Хуснутдинова,
Published: January 2023

Целью нашего исследования являлась оценка вовлеченности полиморфных вариантов генов, отвечающих за регуляцию глутаматергических и ГАМКергических нейромедиаторов, в формирование различий в объёме рабочей памяти у 1011 студентов университетов Республики Башкортостан и Республики Удмуртия. В результате линейного регрессионного анализа была показана ассоциация полиморфного локуса rs4971648 гена NRXN1 (p = 0,008; β = - 0,84) с вариациями в объёме рабочей памяти у курящих индивидов. Полученные данные вносят вклад в понимание молекулярно-генетических механизмов, лежащих в основе индивидуальных различии в объеме рабочей памяти.

The aim of our study was to assess the involvement of polymorphic variants of genes responsible for the regulation of glutamatergic and GABAergic neurotransmission in the formation of differences in the volume of working memory in 1011 university students of the Republic of Bashkortostan and the Republic of Udmurtia. As a result of linear regression analysis, the association of the polymorphic locus rs4971648 of the NRXN1 gene was shown (p = 0.008; β = - 0.84) with variations in the amount of working memory in smoking individuals.The obtained data contribute to the understanding of the molecular genetic mechanisms underlying individual differences in the amount of working memory.
Associations of SLC1A2 gene polymorphisms with the type of schizophrenia
Authors: Е.Г. Полтавская, , Е.Г. Корнетова, , В.И. Герасимова, , А.В. Бочарова, , С.А. Иванова, , О.Ю. Федоренко,
Published: January 2023

В настоящее время тип течения шизофрении является ключевым признаком в классификации заболевания. В работе исследованы ассоциации полиморфных вариантов гена SLC1A2 с данным признаком. Глутамат является основным возбуждающим нейротрансмиттером в центральной нервной системе. Ген SLC1A2 кодирует один из транспортеров возбуждающих аминокислот (EAAT), которые потенциально влияют на глутаматергическую нейротрансмиссию, удаляя избыток глутамата из синаптической щели. В группу исследования включены 655 больных шизофренией, которые были подразделены на 2 подгруппы: первая включала 398 больных с непрерывным течением шизофрении, вторая - 257 больных с эпизодической шизофренией. Проведено генотипирование 11 полиморфных вариантов гена SLC1A2. Обнаружено, что с непрерывным типом течения шизофрении ассоциированы генотип CT и аллель С rs1042113, а также генотип CT rs12294045 гена SLC1A2. Таким образом, в настоящем исследовании установлены ассоциации rs1042113 и rs12294045 гена SLC1A2 с типом течения шизофрении.

Currently, the type of course of schizophrenia is a key feature in the classification of the disease. In this work, associations of polymorphic variants of the SLC1A2 gene with this trait were studied. Glutamate is the main excitatory neurotransmitter in the central nervous system. The SLC1A2 gene encodes EAAT2, one of the excitatory amino acid transporters (EAATs) that potentially influence glutamatergic neurotransmission by removing excess glutamate from the synaptic cleft. The study group included 655 patients with schizophrenia, 2 subgroups were identified: a subgroup of 398 patients with a continuous course of schizophrenia and a subgroup of 257 patients with episodic schizophrenia. Genotyping of 11 polymorphic variants of the SLC1A2 gene was carried out. It was found that the CT genotype and the C allele rs1042113 SLC1A2, as well as the CT genotype rs12294045 SLC1A2, were associated with the continuous course of schizophrenia. Thus, the present study showed the involvement of the SLC1A2 gene in determining the type of course of schizophrenia.
Screening for the presence of frequent pathogenic variants in the FGFR3 gene in patients with achondroplasia
Authors: Н.Н. Вассерман, , А.В. Поляков,
Published: January 2023

Ахондроплазия - врожденное заболевание, наиболее частая форма карликовости, наследующаяся по аутосомно-доминантному типу. В основе патогенеза лежит нарушение эндохондрального окостенения. Больные имеют низкий рост, укороченные проксимальные отделы конечностей, аномалии черепа. Менее выраженные скелетные аномалии характерны для гипохондроплазии. Оба заболевания обусловлены мутациями в гене FGFR3. К ахондроплазии в 99% случаев приводит мутация c.1138G>A/С (р.Gly380Arg), 60% гипохондроплазии обусловлено вариантом c.1620C>A/G (р.Asn540Lys). Приводящие к ахондроплазии мутации вызывают конститутивную активацию FGFR3. В связи с ортопедическими и неврологическими осложнениями важно своевременное лечение ахондроплазии. Для своевременного начала лечения актуальна молекулярно-генетическая диагностика ахондроплазии. В работе представлены первые результаты программы селективного скрининга на наличие частых патогенных вариантов в гене FGFR3. На материале 270 пациентов информативность программы составила 70%. На долю наиболее частой мутации р.Gly380Arg (c.1138G>A/С) приходится 85,7%. В 13,7% случаев выявлен вариант р.Asn540Lys (c.1620C>A/G).

Achondroplasia is a congenital disease, the most common form of short-limb dwarfism, inherited by autosomal dominant type. The pathogenesis is based on a disruption of endochondral ossification. Patients exhibit short stature with shortening of the proximal parts of the limbs, facial abnormalities. Hypochondroplasia is much milder. Both disorders are causes by mutations in the FGFR3 gene. Achondroplasia is caused in 99% of cases by mutation c.1138G>A/C (p.Gly380Arg), 60% of hypochondroplasia is caused by variant c.1620C>A/G (p.Asn540Lys). The mutations leading to achondroplasia cause constitutive activation of FGFR3. Due to orthopedic and neurological complications, it is important to treat achondroplasia. Pharmacological treatment of the disease is being developed. Molecular genetic diagnosis of achondroplasia is relevant for the timely initiation of treatment. The paper presents the first results of selective screening program FSBI «RCMG» for the presence of frequent pathogenic variants in the FGFR3 gene. Based on the material of 270 patients the informativeness of the program was 70%. The share of the most frequent mutation р.Gly380Arg (c.1138G>A/С) account for 85.7%. A variant of р.Asn540Lys (c.1620C>A/G) was detected in 13.7% of cases.
Evaluation of the effectiveness of next generation sequencing in the clinical practice of the medical genetic consultation in Khanty-Mansi region
Authors: М.Ю. Донников, , Р.А. Илларионов, , Т.А. Изотова, , Л.Н. Колбасин, , Л.В. Коваленко,
Published: January 2023

Актуальность. Полноэкзомное секвенирование на основе NGS, принятое с 2016 г. в качестве аутсорсинговой услуги, все чаще используется в рутинной клинической практике окружной медико-генетической консультации (МГК). Оценка диагностических возможностей полноэкзомного секвенирования необходима для обоснования проведения NGS непосредственно в региональных клинических условиях. Цель: оценить эффективность диагностики генетических заболеваний у детей в ХМАО-Югра методом полноэкзомного секвенирования. Методы. Полноэкзомное секвенирование методом NGS, валидация данных NGS и анализ сегрегации в семье методом секвенирования по Сэнгеру. Результаты. Молекулярные диагнозы были установлены у 27% (27/100) детей, что соответствует данным, опубликованным в других источниках. Наследственные заболевания чаще диагностировались у лиц с аномалиями нервной, костной и дыхательной систем. Были выявлены преимущественно аутосомно-доминантные заболевания, среди которых наиболее частыми были нейрофиброматоз, несовершенный остеогенез, ахондроплазия. Анализ семейной сегрегации патологических вариантов выявил 5 новых вариантов в генах TSC1, KAT6A, ANKRD26, ARID1B, RPGRIP1.

Background. NGS-based exome sequencing, accepted as an outsourced service since 2016, is increasingly being used in the routine clinical practice of our medical genetic counseling centre. Evaluation of the diagnostic capabilities of exome sequencing is necessary to substantiate the effectiveness of NGS in situ in regional clinical settings. Aim: to evaluate the effectiveness of diagnosing genetic diseases in children in Khanty-Mansi region using exome sequencing. Methods. Exome sequencing by NGS, validation of NGS data by Sanger sequencing, family segregation analysis by Sanger sequencing. Results. Molecular diagnoses were reported in 27% (27/100) of children, in line with data published elsewhere. The diagnoses were more often diagnosed in persons with anomalies of the nervous, skeletal and respiratory systems. Predominantly autosomal dominant diseases were identified, among which the most common were neurofibromatosis, osteogenesis imperfecta, achondroplasia. Family segregation revealed 5 new variants in the TSC1, KAT6A, ANKRD26, ARID1B, RPGRIP1 genes.
Results of the selective Duchenne/Becker screening program
Authors: Е.В. Зинина, , М.В. Булах, , О.А. Щагина, , А.В. Поляков,
Published: January 2023

Мышечная дистрофия Дюшенна/Беккера (МДД/МДБ) является наиболее частой формой мышечных дистрофий, на которую приходится более 50% всех случаев. С 01.10.2018 года в лаборатории ДНК-диагностики ФГБНУ «МГНЦ» ведется программа селективного скрининга МДД/МДБ, направленная на раннее выявление больных. Основными критериями включения являются: мужской пол, клинически установленный диагноз МДД или МДБ или значительное повышение уровня креатинфосфокиназы (КФК) (>2000 ЕД/л). На первом этапе скрининга пациентам проводится поиск протяженных делеций и дупликаций методом мультиплексной лигазозависимой амплификации проб. Второй этап заключается в поиске малых мутаций с использованием кастомной панели методом массового параллельного секвенирования. В рамках скрининговой программы обследован 1071 неродственный пробанд. Варианты в гене DMD были обнаружены в 818 (75,3%) случаях. Также в 96 (8,9%) случаях были выявлены другие генетические причины прогрессирующих мышечных дистрофий.

Duchenne/Becker muscular dystrophy (DMD/DMB) is the most common form of muscular dystrophy, accounting for over 50% of all cases. Since 01.10.2018, a program of selective screening for DMD/DMB has been conducted on the basis of the DNA diagnostics laboratory of the Research Centre of Medical Genetics, aimed at early detection of patients. The main inclusion criteria are male gender, an established clinical diagnosis of DMD or DMB, or a significant increase in the level of creatine phosphokinase (>2000 U/l). At the first stage of screening, patients are scanned for extended deletions and duplications in the DMD gene using multiplex ligase-dependent probe amplification. The second stage is the search for small mutations using a custom NGS panel. In a screening of 1071 unrelated probands with a referral Duchenne/Becker diagnosis, pathogenic variants in the DMD gene were found in 818 boys (in 75,3% of cases). Also, in 96 (8.9%) cases, other genetic causes of progressive muscular dystrophies were identified.
Familial case of ataxia-telangiectasia
Authors: Л.И. Минайчева, , Л.П. Назаренко, , Е.Г. Равжаева, , Г.Н. Сеитова,
Published: January 2023

Цель: описание семейного случая атаксии-телеангиэктазии. Методы. Проведено обследование двух братьев с атактическим синдромом неясного генеза. Молекулярно-генетическое исследование выполнено методом полногеномного секвенирования (ООО Эвоген, г. Москва). Результаты. Проведено клиническое обследование и молекулярно-генетическое тестирование пациента в возрасте 1 год 9 месяцев с симптомами атаксии и иммунодефицитным состоянием и его родного брата (6 лет 9 месяцев). Обнаружены 2 варианта нуклеотидной последовательности гена АТМ в компаунд-гетерозиготном состоянии: в экзоне 40, приводящий к преждевременной терминации синтеза белка р.Glu1978Ter (отцовского происхождения), и в экзоне 58, приводящий к преждевременной терминации синтеза белка р.Arg2849Ter (материнского происхождения). Указанные варианты описаны в компаунд-гетерозиготном и гомозиготном состоянии у пациентов с атаксией-телеангиэктазией. Заключение. Установление точного диагноза пациентам позволит своевременно определить план наблюдения, который является междисциплинарным, а также эффективно проводить профилактические и реабилитационные мероприятия. Проведено медико-генетическое консультирование семьи, уточнен прогноз для членов семьи.

Aim: description of a family case of ataxia-telangiectasia. Methods. Two brothers with atactic syndrome of unknown origin were examined. Molecular genetic study was performed by whole genome sequencing (LLC Evogen, Moscow). Results. A patient aged 1 year 9 months with symptoms of ataxia and an immunodeficiency state and his brother (6 years 9 months) underwent a clinical examination and molecular genetic testing. According to its results, 2 variants of the nucleotide sequence were found in the compound-heterozygous state of the ATM gene: in exon 40, leading to premature termination of p.Glu1978Ter protein synthesis (paternal origin) and in exon 58, leading to premature termination of p.Arg2849Ter protein synthesis (maternal origin) These variants are described in the compound heterozygous and homozygous state in patients with ataxia-telangiectasia. Conclusions. Establishing an accurate diagnosis for patients will allow timely determination of an observation plan that is interdisciplinary, as well as effectively carrying out preventive and rehabilitation measures. Medical genetic counseling of the family was carried out, the prognosis for the development of the disease for family members was clarified.
Сhronic exposure effect on the telomere regions of the chromosomes of the human peripheral blood lymphocytes
Authors: Я.В. Кривощапова,
Published: January 2023

Цель работы состояла в исследовании влияния хронического облучения и нерадиационного фактора (пола) на показатель длины теломерных районов хромосом человека. Объект исследования: Т-клетки периферической крови жителей прибрежных сел реки Теча, подвергшихся хроническому облучению. Была проведена оценка теломерных районов 1, 2, 3, 13, 14, 15, 19, 20, 21 и 22 пар хромосом методом флуоресцентного окрашивания (Q-FISH) теломер в комбинации с контрокрашиванием DAPI. В результате проведенного исследования было отмечено, что длина теломер в одной клетке широко варьируется, а размер теломерного района не зависит от длины хромосомы или хромосомного плеча, на котором он расположен. У мужчин показатель длины теломер имеет достоверно более высокие значения по сравнению с женщинами. В группе сравнения длина теломерных районов во многих хромосомах достоверно превышала таковую в группе облученных.

The aim of the research was to study the influence of the chronic radiation exposure and non-radiation factors on the length of the telomere regions of the human chromosomes. The object of the study: peripheral blood T-cells of the chronically exposed residents of the Techa riverside settlements. The length of the telomere regions of the 1st, 2nd, 3rd, 13th, 14th, 15th,19th, 20th, 21st and 22nd pair of chromosomes has been estimated using the method of fluorescent staining (Q-FISH) of the telomeres coupled with DAPI counterstaining. The findings of the study demonstrate that the length of the telomeres in one cell varies greatly; the size of the telomere region does not depend on the length of a chromosome or a chromosome arm where it is located. The value of the telomere length in men is statistically significantly high as compared to women. In the comparison group, the length of the telomere regions in many chromosomes statistically significantly exceeds that in the exposed group.
Meiotic segregation and interchromosomal effect of heterochromatin small supernumerary marker chromosomes
Authors: А.А. Тарлычева, , Ж.Г. Маркова, , М.Е. Миньженкова, , Н.В. Шилова,
Published: January 2023

Введение. Малые сверхчисленные маркерные хромосомы (мСМХ), состоящие из гетерохроматиновых районов, могут быть обнаружены у индивидуумов без видимых аномалий фенотипа. Их наличие в кариотипе иногда приводит к репродуктивным проблемам, связанным с риском возникновения ошибок мейоза вследствие нарушения межхромосомного синапсиса и процесса расхождения гомологичных хромосом. Цель: изучение мейотической сегрегации и оценка частоты формирования гамет с анеуплоидией у мужчин с кариотипом 47,XY,+mar без клинически значимых аномалий фенотипа. Материалы и методы: флуоресцентная in situ гибридизация (FISH) на препаратах из эякулята семи мужчин, асимптоматических носителей мСМХ. Результаты: у всех носителей мСМХ частота сперматозоидов, содержащих маркерную хромосому, не превышала 28% и в среднем составляла 15,04±9,4 (±SD). Доля анеуплоидных сперматозоидов не превышала 3,1% и в среднем составляла 1,9±1,1 что сопоставимо с частотой анеуплоидии в гаметах индивидуумов с различными показателями спермы и нормальным кариотипом, которая не превышает 5,9% и в среднем составляет 2,2±1,8. Выводы: в мейозе носителей гетерохроматиновых мСМХ гаметы преимущественно формируются без маркерной хромосомы. Показано, что присутствие мСМХ в клетках эякулята не оказывает существенного влияния на мейотическую сегрегацию других хромосом, т.е. межхромосомный эффект отсутствует.

Introduction. Small supernumerary marker chromosomes (sSMCs) consisting of heterochromatin regions can be found in individuals without visible phenotypic abnormalities. Their presence in the karyotype sometimes leads to reproductive problems associated with the risk of meiosis errors due to interchromosomal synapses and the process of non-disjunction of homologous chromosomes. Aim: to investigate meiotic segregation and evaluate the frequency of gamete formation with aneuploidy in males with karyotype 47,XY,+mar without clinically significant phenotypic abnormalities. Materials and Methods: fluorescence in situ hybridization (FISH) on fixed sperm preparations in 7 male patients-asymptomatic carriers of sSMC. Results. In all sSMC carriers, the frequency of spermatozoa containing the marker chromosome did not exceed 30% and averaged 15.04±9.4 (±SD). The proportion of aneuploid spermatozoa did not exceed 3.1% and, on average, was 1.9%±1.1, which does not differ from the frequency of aneuploidy in gametes in individuals with normal karyotype (does not exceed 5.9% and, on average, is 2.2±1.8). Conclusions. In carriers of heterochromatinous sSMC gametes in meiosis are predominantly formed without a marker chromosome. It has been shown that the presence of a high proportion of sSMC in the ejaculate cells does not significantly affect the meiotic segregation of other chromosomes, i.e., there is no interchromosomal effect.
Ecology of the wood bison at the initial period of acclimatization in Yakutia
Authors: Роман Николаевич СМЕТАНИН, , Валерий Михайлович САФРОНОВ,
Published: January 2023

Подведены итоги 16-летней реакклиматизации лесного бизона в Центральной Якутии. Дана характеристика численности, питания, освоения территории, воспроизводства и научно-практической значимости интродукции бизонов. Молодняк вступил в размножение с 2-3 лет, принес первый приплод в возрасте 3-4 лет. Получено 15 поколений потомства. Пополнение телятами по отношению к основному поголовью на начало года колебалось от 22 до 55%. Общая численность стада достигла 310 особей. Адаптация к новым условиям обитания протекает успешно. Природно-климатические условия Центральной Якутии соответствуют экологическим требованиям вида. Определена продуктивность лугов разных типов. Установлен список кормовых растений бизонов. Положительные результаты дали два их выпуска на волю в природном парке «Синяя» в 2017 и 2018 гг. Показано, что широко распространенные в Центральной Якутии мелкодолинные угодья представляют обширную и практически свободную экологическую нишу для обитания реакклиматизантов. Приведены данные по спутниковой телеметрии репатриантов. Межконтинентальная транслокация лесного бизона в Якутии является важнейшим событием обновления фауны России. Дальнейшая натурализация вида в историческом ареале представляет важную и актуальную задачу современности.

The results of the 16-year reacclimatization of wood bison in Central Yakutia are summed up. A description of the number, nutrition, territory development, reproduction and scientific and practical importance of bison introduction is given. The young growth started breeding at the age of 2-3 years, the first offspring at the age of 3-4 years. 15 generations of bison obtained. Replenishment of calves in relation to the main livestock at the beginning of the year ranged from 22 to 55%. The total number of wood bison reached 310 individuals. Adaptation to new living conditions is proceeding successfully. The natural and climatic conditions of Central Yakutia correspond to the ecological requirements of the species. The productivity of different grassland types was determined. A list of food plants for bison was established. The release of two batches of bison into the wild in the Sinyaya Nature Park in 2017 and 2018 gave positive results. It is shown that shallow valley lands widespread in Central Yakutia represent a vast and practically free ecological niche for the habitation of reacclimatizers. Data on satellite telemetry of bison are presented. Intercontinental translocation of wood bison in Yakutia is an important event in the renewal of the fauna of Russia. Further naturalization of the species in the historical range represents an important and urgent task of our time.
Nanoconfinement Effect: A Dynamic and Powerful Halide-Sequestrating Pd2L4 Cage
Authors: Vellaiyadevan Sivalingam Vellaiyadevan , Krishnaswamy Shobhana , Chand Dillip Kumar
Published: January 2023

Inspired by the dehalogenase enzyme’s remarkable ability to cleave the stronger carbon-halogen bonds, we demonstrate unprecedented C−Cl bond scission using a halide-binding synthetic host. We achieved this by employing a precisely designed Pd2L4-type coordination cage equipped with Pd(II)−ligand bond dynamics and a tailor-made cage cavity with noncovalent binding forces for high-affinity anion-binding. This cage is one of the strongest chloride-binding synthetic hosts (Ka(Cl) > 1010 M−1) known in polar solvent medium. It also demonstrates at least two orders of magnitude higher chloride affinity than halophilic Ag(I) in acetonitrile. One of the fascinating features of this well-defined cage is its ability to cleave B−F/C−Cl bond in a facile manner from BF4/chlorinated solvents in nonpolar solvent media. We propose a partial cage dissociative mechanistic pathway based on experimental evidences for cage-promoted carbon−halogen bond scission.
High Rates of Quinone-Alkyne Cycloaddition Reactions are Dictated by Entropic Factors
Authors: Damen Johannes , Escorihuela Jorge , Zuilhof Han , van Delft Floris , Albada Bauke
Published: January 2023

Reaction rates of strained cycloalkynes and cycloalkenes with 1,2-quinones were quantified by stopped flow UV-Vis spectroscopy. Surprisingly, it was determined that 8-membered BCN-OH reacts substantially (16 times) faster than the more strained 7-membered THS. Thermodynamic activation parameters, obtained from the linearized Eyring equation and stopped-flow measurements, revealed that the reaction of both BCN-OH and THS with ortho-quinones is entropycontrolled, ruling out a relevant contribution of secondary orbital interactions (SOIs) as earlier proposed.
Expanded Molecular Imaging of Phytocompounds by Mass Spectrometry Using Novel On-Tissue Chemical Derivatization
Authors: Zemaitis Kevin , Lin Vivian , Ahkami Amir , Winkler Tanya , Anderton Christopher , Veličković Dušan
Published: January 2023

Probing the entirety of any species metabolome is an analytical grand challenge, especially at a cellular scale. Where spatial metabolomics, completed primarily by matrix-assisted laser desorption/ionization (MALDI), has limited molecular coverage for several reasons. To expand the scope of spatial metabolomics, we developed an on-tissue chemical derivatization (OTCD) workflow using 4-APEBA for confident identification of several dozen elusive phytocompounds, including several phytohormones, which have various roles within stress responses and cellular communication. Superiority of 4-APEBA is established in comparison to other derivatization agents with (1) broad specificity towards carbonyls, (2) low background, and (3) introduction of bromine isotopes, where the latter two facilitate confident bioinformatics. The outlined workflow trailblazes a path towards spatial hormonomics within plant samples, enhancing detection of carboxylates, aldehydes, ketones, and plausibly phenols.
GREEN SYNTHESIS APPROACH, CHARACTERIZATION, AND APPLICATIONS OF MgO NANO PARTICLES USING CURRY LEAF (MURRAYA KOENIGII)
Authors: Leizou Kaywood Elijah , Ashraf Muhammad Aqeel
Published: January 2023

Nanotechnology has emerged as a state-of-the-art and cutting-edge technology with multifarious applications in a wide array of fields. The goal of this study was to create magnesium oxide nanoparticles using an aqueous extract of curry leaves (murraya koenigii or bergera koenigii). The morphology, elemental content, shape, and size of the produced MgO nanoparticles were determined using scanning electron microscopy (SEM) and energy-dispersive X-ray spectroscopy analysis (EDX). According to the SEM data, the MgO nanoparticle forms were well disseminated, with a spherical shape and particle sizes ranging from 20 to 100 nm. While the EDX pattern infers the sample’s elemental composition, the average occurrence of Mg was 32.45 percent. Plant extracts were used to successfully produce MgO nanoparticlse, which is an essential alternative technique because it is non-toxic, biocompatible, and environmentally benign.
MATERNAL RISK FACTORS FOR GROUP B STREPTOCOCCUS (GBS) VAGINAL COLONIZATION
Authors: H. Wahid Hanan , Bahez Ayesha , Mustafa Mahmud Mohammed I. A. , N. Hashim Farih , Kamarudin Norhidayah , Baharuddin Roesnita , Ahmad Mustafa Ahmad M. , Ismail Hamizah
Published: January 2023

Approximately 18% of pregnant women are colonized with Group B streptococcus (GBS), which are β-hemolytic, gram-positive bacteria. GBS conversion from the asymptomatic commensal in the vagina to an invasive pathogen predisposes the pregnant women to ascending intrauterine infection that tiggers preterm birth and initiate fetal and neonatal infections. Here, we review the prevalence of colonizing GBS serotypes and sequence types (STs) in different geographical regions. Maternal components including demographical and obstetric factors that increase the risk for GBS colonization during pregnancy are also further elucidated. The prevalence of colonizing GBS serotypes and sequence types (STs) are elucidated in this review in addition to the maternal components including demographical and obstetric factors that increase the risk for GBS colonization during pregnancy. Investigating the epidemiology is crucial for the development of new therapeutic and preventive measures to reduce the burden of invasive GBS disease worldwide including risk-factor based screening protocols.
PROFILE COMPOSITION AND RISK EVALUATION OF PAHS IN BOREHOLE WATER FROM AMASSOMA, BAYELSA STATE, NIGERIA
Authors: Leizou Kaywood Elijah , Ashraf Muhammad Aqeel
Published: January 2023

Water is an essential and indispensable natural resource. The most important to human endeavors, ecosystem and all living things. Thus, this study was carried out to determine the levels of concentration of sixteen (16) priority pollutants (PAHs) in borehole water from Amassoma, Bayelsa state. The PAH concentrations in the borehole water samples was performed using GC–MS method. The total PAHs concentration ranged from 0.003 – 0.364mg/l with a mean value of 0.132mg/l. Dibenzo(a,h)anthracene had the highest individual PAH concentration of 0.164mg/l. PAH accumulation in the environment and Toxic equivalency factor (TEF) used to estimate relative toxicity of a PAH compared to that of BaP, principal component analysis and pearson’s correlation was employed. Pearson correlation matrice analysis reveals a positive correlation between the PAHs; this could indicate a common source for some of the PAHs, however, some were negatively correlated with each other. This behavior could indicate non-point source. Six principal component accounting for 88% of the entire variance were extracted. A comparative analysis of PAHs concentrations in the water samples with maximum allowable concentration (MAC) standards revealed that the results obtained in this study were within the permissible levels except for Ind(1,2,3-cd) P and DbahA, however, carcinogen PAHs present in the water of the Amassoma axis, Nun River may pose a threat to human health. PAH fingerprint ratios for determining both petrogenic and pyrogenic (pyrolytic) PAH accumulation such as (Ant/(Ant+Phe), BaA/(BaA+Chr), and ∑▒〖LMW/∑▒HMW〗) ratios was employed. The PAH diagnostic ratio indicates that within the Amassoma Town was of mixed ratios, petroleum (petrogenic) and combustion (pyrogenic) sources and grass/wood/straw combustion sources. This is a clarion call on policy makers and necessary regulatory authorities to step up.
ENVIRONMENTAL IMPACT ASSESSMENT OF OIL PRODUCING COMMUNITIES IN PART OF THE NIGER DELTA. A CASE STUDY OF IBENO, IKOT ABASI, ONNA AND ESIT-EKET LOCAL GOVERNMENT AREA IN AKWA IBOM STATE, NIGERIA
Authors: Harry Thomas Akpan , Peter Ekemini John , Udoduk Nsidibe Akpan
Published: January 2023

An Environmental Impact Assessment was initiated to monitor the distribution and effect of petroleum hydrocarbon pollutants on the quality of the surface water, groundwater, and sediments of Ibeno, Esit-Eket, Onna, and Ikot Abasi. Eighty-one (81) samples were randomly collected from surface water, boreholes, and soil for analyses based on the standard physiochemical parameters for comparison with the World Health Organization (WHO) standard. The variation in the average pH of water was not significant (6.5 to 8.0), well within the range for unpolluted streams. However, the total hydrocarbon content (THC) of the sediments was greater than 200 mg/kg, which is the limit, thus indicating heavy pollution by hydrocarbons. The pollution indices for the potential contaminants were also determined, in which the pollution index of surface water samples and borehole water sample is <1 indicating an unpolluted water body, while the pollution index of sediment samples was > 1, showing polluted sediments.
New Records of Rare Plant Species in the Baikal Siberia
Authors:   Institute of General and Experimental Biology SB RAS, Chimitov D. G. , Anenkhonov O. A. ,   Institute of General and Experimental Biology SB RAS, Naidanov B. B. ,   Institute of General and Experimental Biology SB RAS, Borisova N. G. ,   Institute of General and Experimental Biology SB RAS
Published: January 2023

The paper presents new locations of 11 rare plant species listed in the Red Data Books of the Republic of Buryatia, Zabaikalsky Krai, Irkutsk Region, and the Russian Federation. Thus, for both Adonis sibirica and Cypripedium guttatum 1 new locality in the Zabaikalsky Krai is revealed; for 3 species, namely Allium altaicum, Calypso bulbosa, and Physochlaina physaloides 1 locality in the Irkutsk Region is noted; for Krascheninnikovia ceratoides, Oxytropis peschkovae, and Saussurea krasnoborovii 1 new locality for every one of these species in the Republic of Buryatia is recorded; for Asplenium ruprechtii 1 new locality in the Republic of Buryatia and 1 new locality in the Irkutsk Region are reported; for Oxytropis sylvatica 1 new locality in the Irkutsk region and 3 new localities in the Zabaikalsky Krai are found. Additionally, for Stipa glareosa which is a regionally rare species and also recognized as relict species in Baikal Siberia, 2 new localities are indicated in the Republic of Buryatia.
Uvodnik
Authors: Koprivšek Jože
Published: January 2023

Pred vami je nova številka revije Les/Wood, kije nastajala v drugem letu pandemije Covid-19, ki jekrojila dogajanje tudi v gozdno-lesni verigi.
Correction of metabolic changes in the tissues of oral cavity of rats using a complex of drugs under the conditions of pathological factors
Authors: Ivanov V.S. , Makarenko O.A. , Dienha O.V.
Published: January 2023

Hypoxia is a typical pathological process that occurs when tissues are insufficiently supplied with oxygen or when its utilization is impaired. One of the most important pathogenetic factors in the development of tissue hypoxia is the disintegration of the structure of mitochondrial membranes which occurs under the influence of various etiological factors. In children who suffered hypoxia in the antenatal period, the frequency of developmental delays is significantly increased, and the incidence of caries is also shown to increase as compared to healthy children. Based on the above, this work is relevant for modern dentistry. The work is devoted to the study of the state of the maxillofacial system and tissues of the oral cavity of rats under the influence of the complex of drugs under the conditions of intrauterine hypoxia, cariogenic diet, thyroid insufficiency and fluorine deficiency. The subjects of the study were 25 female white rats of the Wistar line of herd breeding from the vivarium of the SE “ISMFS NAMS” kept on a standard vivarium diet. The animals were divided into three groups – intact (7 rats), pathology model (8 rats), pathology model and drug complex (8 rats). Animals were removed from the experiment under thiopental anesthesia (40 mg/kg). Lower jaws and pulp were removed. As a result of the research, it was established that the proposed treatment-prophylactic complex has a pronounced caries-prophylactic and periodontoprotective effect. The caries-preventive effectiveness of the complex was due to its ability to stimulate the mineralizing function of the dental pulp, namely, to increase the activity of alkaline phosphatase of the pulp, as an indicator of the activation of osteoblasts, against the background of a decrease in the activity of acid phosphatase, a marker of osteoclasts.
Medical interview in the system of dental care providing to patients with special needs
Authors: Lytovchenko V.P.
Published: January 2023

Among the leading trends in the field of medicine – improving the quality of various services; focus on individually targeted care, experience and needs of patients; creating equal opportunities and favorable treatment conditions. Relevant in this context is the “Cambridge guide to the medical interview” designed to identify effective communication skills between physician and patient and to provide a sound framework for their analysis. To solve the two leading tasks, an adapted interview model for dentists was developed and tested, taking into account the communicative needs of patients with severe hearing impairment (to the general tasks of “providing structure”, “building the relationship”), which are cross-cutting for each stage of medical interview, “ensuring a universal design of the environment” included, before the stage of “initiating the session” an additional “selection of priority means of communication/necessary adaptations”, etc.) was proposed. Based on the described modern approaches to building trusting relationships in medical practice, taking into account the adapted version of the interview, the key components of working with patients with special needs (hearing impairment) in dentistry are identified.
A clinical case report: stroke in a young patient with systemic lupus erythematosus on the background of secondary antiphospholipid syndrome
Authors: Shkrobot S.I. , Milevska-Vovchuk L.S. , Duve Kh.V. , Naumova L.V. , Budarna O.Yu.
Published: January 2023

The article describes a clinical case report of a young patient with ischemic stroke on the background of antiphospholipid syndrome (APLS). The uniqueness of this case lies in the complex diagnostic search that we performed. On admission, the patient had general cerebral, general infectious and focal syndromes. We suspected encephalitis due to the peculiarities of the onset of the disease and the results of computed tomography. However, after the results of lumbar puncture, the diagnosis of encephalitis required careful differential diagnosis. We performed an extensive diagnostic search. Based on clinical-laboratory, instrumental and immunological data the patient had the following final diagnosis: “Ischemic cardioembolic stroke in the right middle cerebral artery pool (15.10.17) (ICD 11: 8B11.5). Acute period with left pyramidal reflex insufficiency and changes in magnetic resonance imaging. Systemic lupus erythematous (ICD 11: 4A40.0), subacute course, activity II, with the lesion of skin (transient erythematous rash), kidneys (proteinuria, transient impaired renal function), lungs (bilateral pleurisy with immunological disorders). Secondary APLS (ICD 11: 4A45) (Acute iliofemoral thrombosis, May 2017; chronic thrombosis of the inferior vena cava, iliac veins, positive IgG to cardiolipin, beta 2 glycoproteins). Thus, we have to link thrombotic complications in young patients with APLS and to examine the patients for antiphospholipid antibody presence.
Innovative Development Path of the Pension Model Under the Background of the Aging Society: Taking Chongqing as an Example
Authors: Wang Aihong
Published: January 2023

The aging society has dawned on China, and the pension industry is now considered to be a sunrise industry. In 2020, the number of people over the age of 65 in Chongqing had reached more than 5.47 million. At present, the mainstream home-based care, children support, and institutional care cannot fully meet the needs of the elderly for food, housing, medical care, nursing, and entertainment. The value curve model from “Blue Ocean Strategy” is used to look for innovative, differentiated competitive strategies. Through community-sharing pension institutions, it is believed that a new model that provides lower prices and more professional medical care services for the elderly, enriches the spiritual world of the elderly with rich entertainment activities, and connects social services through an elderly studio to meet the needs of the elderly for self-realization can be introduced.
A Study of Factors Associated with the Participation of Children with Autism Spectrum Disorder in Leisure Activities
Authors: Younas Hafiz Muhammad Hamza , Bashir Rukhsana , Ashraf Samina
Published: January 2023

Purpose: The present research aims to identify the factors associated with the participation of children with autism spectrum disorder in leisure activities.

Research Methodology: The study was descriptive in nature and use quantitative methods to analyze the data. Parents of children with ASD studying in private and public schools for students with autism spectrum disorder from Lahore division including its 4 districts; Lahore, Kasur, Sheikhpura and Nankana Sahib were the population of the study. A sample of 88 parents of children with autism spectrum disorder participated in this study. Researchers used self-developed and validated Likert type questionnaire. After raw data collection, the data was coded in coding scheme by using statistical package of social sciences (SPSS) and tabulated to show the mean and standard deviation of responses.

Findings: The findings obtained in this study suggest that children with autism spectrum disorder were willing to participate in leisure activities, but their participation in leisure activities differed by activity types. It was observed that personal factors, such as age, gender, job responsibilities, family pressure, health issues, as well as the socioeconomic status of the family, affect participation in leisure activities.

Recommendations: Schools may organize parental training sessions where parents should be guided and motivated in making and executing a game plan to show their child’s strength in leisure activities at school level.
La peur comme stratégie dissuasive et d’éducation sentimentale dans les contes pour jeunes filles au Nord-Cameroun
Authors: Mawoune Warayanssa
Published: January 2023

Le présent article se propose de montrer, dans une approche rhétorique, comment la production desémotions dans les contes pour jeunes filles au Nord-Cameroun participe d’une stratégie de dissuasion et d’éducation sentimentale efficace en contexte traditionnel. En prenant appui sur les éléments de preuve logique et pathétique investis dans le discours (Amossy, 2000, pp. 291-320), cette étude démontre comment l’instauration de la peur notamment constitue pour le conteur un moyen efficient de réprimer la désobéissance parentale et le mariage exogamique au moyen des récits transmis. Elle part des contes issus d’univers culturels différents pour analyser les pathèmes verbaux et narratifs (Bolens, 2011) qui actualisent ce sentiment via le discours et le transfèrent ainsi à l’auditoire juvénile présent.Mots-clés : contes, pathos, dissuasion, peur, auditoire juvénile.
Émotions pures et sentiments masqués dans les "Contes d’enfants indiens" de Marguerite Yourcenar
Authors: Marcq Edith
Published: January 2023

En 1985 parait un ouvrage curieux, très peu connu du lectorat de Marguerite Yourcenar, à destination de la jeunesse : Contes d’enfants indiens. Cet ensemble d’historiettes enfantines présente un cas unique où l’auteur officiel s’efface derrière les textes et illustrations produits par des enfants et conçus pour des enfants. Libérant la parole de jeunes d’une réserve indienne du Maine, elle ne remanie aucunement leur écriture abrupte. Dans cette création sans fioriture, l’émotion est palpable mais le sentiment ne se dit pas. Nous faisons entendre la voix de ces petits Amérindiens de la tribu des Abenakis en analysant la structure des récits, empreints d’un folklore traditionnel ancestral, magnifiés par des dessins criant leur histoire.
Mots clés : contes traditionnels, folklore amérindien, écriture d’enfants, dessins d’enfants, rêveset cauchemars d’enfants.
El tiempo en el arte rupestre. De los grupos cazadores recolectores a etnias vigentes de México
Authors: Casado María Pilar
Published: January 2023

Resumen
 
El tiempo y el espacio son los referentes tácitos de la concepción arqueológica, la pluralidad de los ritmos temporales relacionados con aspectos espaciales constituye el binomio que define las formas de existencia de la materia y donde se integran los eventos que se someten a la perdurabilidad, de modo que son susceptibles de cálculo y medida. En estas líneas señalamos cómo el arte rupestre requiere ser atendido desde una variada gama de miradas temporales: el tiempo preliminar, el específico-iconográfico, el cronológico, el tiempo de pervivencia y el tiempo de abandono, para comprender mejor la secuencia del arte rupestre en México como fenómeno de trasmisión de la memoria desde los cazadores recolectores a los grupos autóctonos contemporáneos.
La sima del Ciervo II (Gabasa, Peralta de Calasanz, Huesca). Un conjunto de cerámicas inciso-impresas en el Alto Aragón
Authors: Laborda Lorente Rafael , Gisbert León Mario , Fanlo Loras Javier
Published: January 2023

Se presentan los resultados de las últimas intervenciones realizadas en la Sima del Ciervo II. Esta cavidad presenta un desarrollo básicamente vertical lo cual ha impedido la investigación pormenorizada hasta la fecha, siendo necesario equipo y conocimientos de espeleología. En estas campañas se han visitado todos los tramos y repisas susceptibles de albergar materiales arqueológicos, recuperando numerosos restos entre los cuales destaca un conjunto cerámico adscribible al Neolítico Antiguo. El estudio se completa con la revisión de los materiales pertenecientes a anteriores campañas depositados en el Museo de Huesca.

El objetivo de este trabajo es contextualizar el yacimiento dentro de la tupida red de asentamientos neolíticos en torno a los ríos Cinca y Segre (Huesca y Lérida), así como determinar la funcionalidad del espacio singular en el que se encuentran dadas las difíciles condiciones de acceso que presenta.
Does Bitcoin Contribute to Portfolio Performance?
Authors: Lim Byounghyo , Kim Sol , Han Ingoo
Published: January 2023

This study analyzes the role of Bitcoin as an investment asset in a global multi-asset portfolio. For portfolio construction, we use a risk-based portfolio strategy that excludes estimates of future expected returns. We derive the optimal asset allocation ratio of Bitcoin included in the global multi-asset portfolio and compare the performance with the general portfolio. We find that the average investment weight of Bitcoin in the portfolio is 1.8%, and the portfolio containing Bitcoin shows superior investment performance compared to the portfolio without Bitcoin.
Czy piękno zbawi świat? Lekcja z ks. Józefa Tischnera
Authors: Draguła Andrzej
Published: January 2023

Punktem wyjścia do rozważań na temat relacji piękna do zbawienia jest według Tischnera pytanie o możliwość zbawienia w mitologii greckiej. Autor stwierdza, że zgodnie z ówczesnym myśleniem religijnym życie człowieka nie podlega zbawieniu, ponieważ fatum jest nieuchronne. Zbawienie zostaje zastąpione przez kategorię katharsis, czyli oczyszczenie, które dokonuje się poprzez litość i trwogę, fascinosum i tremendum wywoływane w czasie oglądania tragedii. Zgodnie z koncepcją Rudolfa Otto, te same uczucia wywołuje spotkanie z sacrum. W tym znaczeniu piękno „zbawia”, ale jest to wyłącznie przemiana tego, co tragiczne, w to, co estetyczne. W chrześcijaństwie zbawienie, które dokonało się w Chrystusie, unieważnia tragiczność fatum, ponieważ przynosi nadzieję. Nie mogąc zbawić, piękno spełnia jedynie rolę pomocniczą. Wobec tajemnicy krzyża piękno pozostaje ambiwalentne. Estetyzacja cierpienia Chrystusa pozwala na zbliżenie się do tego, co samo w sobie jest okrucieństwem, a jednocześnie niesie w sobie niebezpieczeństwo dystansu, jaki odczuwamy, oglądając krzyż w muzeum.