Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability

Background: The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis. The exact causes of pathologies in children with clinical manifestations are often unknown and vary greatly in the reported cases: uniparental disomy, de novo rearrangements, changes in methylation patterns and gene expression, including ribosomal genes. Aim of the study: Molecular-cytogenetic investigation of a clinical case of intellectual disability. Material and methods: GTG-banding, Ag-NOR staining, fluorescent in situ hybridization, PCR, real-time PCR. Results: We describe a family case of a translocation rob (13; 14) and elevated rRNA expression in the proband with developmental delay and in his phenotypically normal mother. We show the loss of the p-arms of original chromosomes and the absence of NORs on the derived chromosome. The whole-chromosome uniparental disomy is excluded. Conclusion: The translocated chromosome in the proband was most likely inherited from the mother and did not come about de novo with normal chromosomes 13 and 14 being obtained from the father. The cause of the pathogenesis in the proband still remains unknown. We hypothesize that it could be caused by impaired imprinting manifesting in altered methylation levels of loci on the derivative chromosome. Keywords: Robertsonian translocation, rRNA, Chromosome 13, Chromosome 14, Intellectual disabilit

Reversible Sorptive Preconcentration of Noble Metals Followed by FI-ICP-MS Determination

In this paper, we propose the combined procedure of noble metal (NM) determination, including fire assay, acid digestion, and reversible dynamic sorptive preconcentration, followed by flow-injection ICP-MS. Reversible preconcentration of all NMs was carried out using micro-column packed new PVBC-VP sorbent and elution with a mixture of thiourea, potassium thiocyanate, and HCl, which recovers Pd, Ir, Pt, and Au by 95% and Ru, and Rh by 90%. The proposed procedure was approved using certified reference materials

Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes

Background: Intellectual disability (ID) is an important medical and social problem that can be caused by different genetic and environmental factors. One such factor could be rDNA amplification and changes in rRNA expression and maturation. Aim of the study: The aim of the present study was to investigate rRNA levels in patients with heteromorphism of the p-arms of acrocentric chromosomes bearing nucleolus organizer regions compared to a healthy control group. Material and methods: Frequencies of p-arms enlargements in patients with ID and in healthy people were analyzed by G-banding screening. rRNA gene copy numbers on affected acrocentric chromosomes in peripheral blood lymphocytes were evaluated in ID patients and healthy bearers using FISH, and in immortalized lymphocytes of one patient – using FISH and real time PCR. Simultaneously, levels of 18S, 28S and 5,8S rRNA in both groups by means of qRT-PCR were investigated. Results: No difference in acrocentric chromosome heteromorphism frequency in patients versus the healthy group were found. However, we found an amplification of rDNA, a significant elevation in 28S and 5.8S rRNA expression and changes in the 28S/18S rRNA ratio in ID patients compared to healthy controls. At the same time, FISH appeared to be not reliable enough for copy number evaluation, but RT-PCR showed rDNA copy changes in heteromorphic cells compared to normal. Conclusion: Our findings indicate a loss of the correct regulation of rDNA activity and processing after amplification. This could disturb the ribosomal apparatus and thus lead to intellectual disability via at least two mechanisms. Keywords: Intellectual disability, Acrocentric chromosomes, Nucleolus organizer region – NOR, Ribosomal DNA – rDNA, Ribosomal RNA – rRN

A Rare Human Helminth Infection in Russia

Currently, more than 500,000 cases of various helminthes in humans are reported annually in the Russian Federation. This figure may not reflect the true incidence of helminthes, as only nine separate nosological forms are compulsory notifiable. The rest of the species of detected helminthes are included in a separate category of “other helminthes” or “rare helminthes”. The bulk of the latter is represented by the helminthes with a rate of incidence that does not exceed one case per 100,000 people. This review is based on data derived from publications in the Russian language, both from the Russian Federation and international, as well as data available from various health treatment facilities in Russia. These data largely cover the period of the 1990s–2010s. A total of 15 species of “rare helminthes” are described in this review: anisakiosis, capillariosis, clonorchosis, dioctophymosis, dipylidiosis, echinochasmosis, fasciolosis, gastrodiscoidosis (amphistomiosis), metagonimosis, metorchiosis, nanophyetosis, pseudamphistomosis, sparganosis (spirometrosis), strongyloidosis and trichostrongylosis. Details of their geographical distribution, clinical and epidemiological peculiarities, and the difficulties they pose in diagnosis are provided. The public health importance of “rare helminthes” in Russia at present and in the forthcoming years is stressed

Научные журналы по библиотековедению, библиографоведению и книговедению: история, реалии, перспективы

The article presents the presentations of the participants of the round table “Scientific Journals on Library Science, Bibliography Science and Book Studies: History, Realities, Prospects (to the 70th anniversary of the journal “Bibliotekovedenie” (Library Science)”, which took place on April 19, 2022 within the framework of the International Scientific and Practical Conference “Rumyantsev Readings — 2022”. The paper reflects the place and role of the professional scientific journals in the development of communications that contribute to the preservation of libraries as cultural heritage institutions and form the human capital and cultural potential of all generations of Russian citizens.The journal “Library Science”, established in 1952, became the nationwide scientific periodical of the library sector. Participants described in their speeches the characteristics of the publication activity of some Russian journals, professional periodicals of Belarus, Kazakhstan, Azerbaijan and the international scientific journal “Libri”. The authors highlighted the peculiarities of the creation of periodicals of the designated subject, their functioning, the management models used, the diversity of elements of publication policy and design: regional differences, typological characteristics of the founders, departmental affiliation, cultural traditions, the uniqueness of the historical conditions of creation, etc.The discussion resulted in unanimous recognition of the significant role of professional scientific periodicals in supporting the scientific infrastructure of libraries and providing methodological support of the sector, including research practices, as well as atmosphere of creativity and creative competencies. In the future, the journals are considered as points of growth of professional knowledge, interdisciplinary thinking and cultural communications, activators of the socio-cultural space.Представлены выступления участников круглого стола «Научные журналы по библиотековедению, библиографоведению и книговедению: история, реалии, перспективы (к 70-летию журнала “Библиотековедение”)», который состоялся 19 апреля 2022 г. в рамках Международной научно-практической конференции «Румянцевские чтения — 2022». Отражены место и роль профессиональных научных журналов в развитии коммуникаций, способствующих сохранению библиотек как учреждений культурного наследия и формирующих человеческий капитал и культурный потенциал всех поколений граждан России.Журнал «Библиотековедение», созданный в 1952 г., стал общенациональным научным периодическим изданием библиотечной отрасли, задачи которого в разные периоды фокусировались на проблемах становления библиотек как активных участников процессов, происходящих в обществе, и их отражении в научных исследованиях. «Библиотековедение» остается признанным и наиболее авторитетным журналом.В выступлениях участников были отмечены характеристики публикационной активности некоторых российских журналов, профессиональной периодики Беларуси, Казахстана, Азербайджана и международного научного журнала Libri.Выделены особенности создания периодических изданий обозначенной тематики, их функционирования, используемых управленческих моделей, разнообразие элементов публикационной политики и оформления: региональные различия, типологические характеристики учредителей, ведомственная принадлежность, культурные традиции, уникальность исторических условий создания и др.Итогом обсуждения стало единодушное признание значимой роли профессиональной научной периодики в поддержке научной инфраструктуры библиотек и методического обеспечения отрасли, включая исследовательские практики, атмосферу творчества и креативных компетенций. В перспективе журналы рассматриваются как точки роста профессиональных знаний, междисциплинарного мышления и культурных коммуникаций, активаторы социокультурного пространства

Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

International audienceBackground: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults

Treatment patterns and use of resources in patients with tuberous sclerosis complex : insights from the TOSCA registry

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by <15% of the patients, regardless of age. The long-term nature, together with the variability in its clinical manifestations, makes TSC a complex and resource-demanding disease. The present study shows a comprehensive picture of the resource use implications of TSC