Histone N-tails modulate sequence-specific positioning of nucleosomes.

Spatial organization of chromatin is essential for cellular functioning. However, the precise mechanisms governing sequence-dependent positioning of nucleosomes on DNA still remain unknown in detail. Existing algorithms, taking into account the sequence-dependent deformability of DNA and its interactions with the histone globular domains, predict rotational setting of only 65% of human nucleosomes mapped in vivo.

Corrigendum to "WCN24-218 PRURITUS ASSESSMENT USING A BATTERY OF PATIENT-REPORTED OUTCOME MEASURES IN RUSSIAN PATIENTS WITH CHRONIC KIDNEY DISEASE: PSYCHOMETRIC PROPERTIES OF RUSSIAN VERSIONS AND TESTING OF THEIR USEFULNESS" [ Volume 9, Issue 4, Supplement, April 2024, Pages S52-S53].

[This corrects the article DOI: 10.1016/j.ekir.

Identification of the Optimal Cultivation Period Required to Isolate Representatives of Mycobacterium abscessus Complex Isolated from Patients with Cystic Fibrosis.

Background: In patients with cystic fibrosis (CF), representatives of the fast-growing Mycobacterium abscessus complex (MABSc) are often distinguished, but the culture of the material taken from such patients increases the growth time. We analyzed the terms of cultivation of MABSc representatives on dense nutrient media and also evaluated the productivity of a modified nutrient medium based on agar for the isolation of Burkholderia cepacia complex (BCC).

Methods: Sixty-four strains of MABSc isolated from patients with CF and suspected tuberculosis were analyzed.

Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16.

In humans, aneuploidy is incompatible with the birth of healthy children and mainly leads to the death of embryos in the early stages of development in the first trimester of pregnancy. Trisomy 16 is the most common aneuploidy among spontaneous abortions of the first trimester of pregnancy. However, the mechanisms leading to the death of embryos with trisomy 16 remain insufficiently investigated.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS.

Validation of the Russian Version of the Prolapse Quality-of-life Questionnaire and its Application to Assess the Impact of Pelvic Organ Prolapse on Quality of Life and the Effect of Treatment in Women Undergoing Reconstructive Surgery.

Introduction And Hypothesis: The objective was to validate the translated Russian version of the prolapse quality-of-life (P-QoL) questionnaire and test its applicability to assess the impact of pelvic organ prolapse (POP) on QoL and the effect of treatment in women undergoing reconstructive surgery.

Methods: Following a forward- and back-translation of the original English P-QOL questionnaire into Russian, the translated questionnaire was reviewed by a group of patients as well as an expert panel. Women with POP who were admitted to a university hospital for reconstructive surgery were recruited.

The Methyltransferases METTL7A and METTL7B Confer Resistance to Thiol-Based Histone Deacetylase Inhibitors.

Histone deacetylase inhibitors (HDACi) are part of a growing class of epigenetic therapies used for the treatment of cancer. Although HDACis are effective in the treatment of T-cell lymphomas, treatment of solid tumors with this class of drugs has not been successful. Overexpression of the multidrug resistance protein P-glycoprotein (P-gp), encoded by ABCB1, is known to confer resistance to the HDACi romidepsin in vitro, yet increased ABCB1 expression has not been associated with resistance in patients, suggesting that other mechanisms of resistance arise in the clinic.

Histone N-tails modulate sequence-specific positioning of nucleosomes.

The precise mechanisms governing sequence-dependent positioning of nucleosomes on DNA remain unknown in detail. Existing algorithms, taking into account the sequence-dependent deformability of DNA and its interactions with the histone globular domains, predict rotational setting of only 65% of human nucleosomes mapped . To uncover novel factors responsible for the nucleosome positioning, we analyzed potential involvement of the histone N-tails in this process.

Ultrastructural Abnormalities in Induced Pluripotent Stem Cell-Derived Neural Stem Cells and Neurons of Two Cohen Syndrome Patients.

Cohen syndrome is an autosomal recessive disorder caused by () gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dystrophy, neutropenia, and obesity. VPS13B regulates intracellular membrane transport and supports the Golgi apparatus structure, which is critical for neuron formation.

Species diversity of microorganisms previously identified as nontuberculous mycobacteria by DNA hybridization.

Background: Over the past 10 years, the clinical importance of opportunistic bacteria of the order Actinomycetales has increased significantly. While many problems for the Mycobacterium tuberculosis complex have been solved, for nontuberculous mycobacteria, some questions remain open. These pathogens have a number of structural features that allow them to persist in the external environment for a long time.

Comparison of protein profiles obtained by matrix-assisted laser desorption/ionization-Time-of-flight mass spectrometry in representatives of the family grown on various nutrient media.

Background: The nutrient medium effects on the quality of the matrix-assisted laser desorption/ionization-time-of-flight (MALDI-ToF) mass spectra. The standard library includes spectra of microorganisms of the family Mycobacteriaceae grown on the Lowenstein-Jensen and Middlebrook Media. There are new methods for culturing microorganisms from this group, including inoculation on chromogenic media.

Condition of the Right Heart in Patients With COVID-19‑Associated Pneumonia: Follow-Up During Hospitalization.

Aim      Dynamic assessment of the right heart in patients with COVID-19-associated pneumonia of different severity during regression of the systemic inflammatory response (SIR).Material an methods    This single-center prospective study included 46 patients with the novel coronavirus infection COVID-19 and viral pneumonia according to chest multispiral computed tomography (CT). Laboratory and echocardiographic examinations of patients were performed.

The use of the Mini-Cog, MMSE, and GPCOG tests in domestic clinical practice for the evaluation of cognitive disorders in elderly and senile patients: the results of a survey of experts' opinions.

Objective: To explore the experts' opinion on the feasibility of using Mini-Kog, MMSE and GPCOG tests for screening assessment of cognitive impairment in elderly and senile patients at the primary stage of medical care, as well as to compare different characteristics of these tests according to experts' opinion.

Material And Methods: The survey of specialists was carried out on the basis of 6 Medical Centers. Prior to the survey, specialists tested cognitive functions in elderly and senile patients during routine visits undergoing routine admission using Mini-Kog, MMSE and GPCOG tests, as well as interviewed their relatives using the corresponding section of the GPCOG.

Quality of life in patients with primary hyperparathyroidism before and after parathyroidectomy: long term single center experience.

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder caused by a parathyroid tumor or hyperplasia, which is often accompanied with quality of life (QoL) impairment. A parathyroidectomy (PTX) is the preferred standard treatment for PHPT patients. In this single center study we aimed to evaluate the impact of PHPT on patient's QoL and identify QoL changes at early and long-term follow-up after surgery.

Evaluation of possibility of cultivation of acid resistant bacteria on solid egg-based and agar cultural media.

Background: The increase in the number of patients at risk for opportunistic infections caused by rare bacteria, which include individual representatives of acid-resistant bacteria (ARB), is a serious problem in modern health care. Significant difficulties in the etiological diagnosis of mycobacteriosis, nocardiosis, and actinomycosis are associated not only with the problem of identifying the main pathogens but also with certain difficulties in isolating pathogens from biological material.

Methods: The research provides data on 402 strains of ARB, which were isolated from various biological materials obtained from patients during examination for tuberculosis.

Comparative cytogenetics of anembryonic pregnancies and missed abortions in human.

Miscarriage is an important problem in human reproduction, affecting 10-15 % of clinically recognized pregnancies. The cases of embryonic death can be divided into missed abortion (MA), for which the ultrasound sign of the embryo death is the absence of cardiac activity, and anembryonic pregnancy (AP) without an embryo in the gestational sac. The aim of this study was to compare the frequency of chromosomal abnormalities in extraembryonic tissues detected by conventional cytogenetic analysis of spontaneous abortions depending on the presence or absence of an embryo.

Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy.

The placenta has a unique hypomethylated genome. Due to this feature of the placenta, there is a potential possibility of using regulatory elements derived from retroviruses and retrotransposons, which are suppressed by DNA methylation in the adult body. In addition, there is an abnormal increase in the level of methylation of the LINE-1 retrotransposon in the chorionic trophoblast in spontaneous abortions with both normal karyotype and aneuploidy on different chromosomes, which may be associated with impaired gene transcription using LINE-1 regulatory elements.

Linguistic and cultural adaptation of the Russian version of general practitioner assessment of cognition questionnaire - GPCOG in elderly and senile patients at the primary care level.

Material And Methods: Russian version of the General Practitioner's Assessment of Cognition (GPCOG) questionnaire-test was adapted in accordance with modern international recommendations, including the procedure of its consecutive translations, testing of the Russian version of the questionnaire as part of interviewing geriatric patients and their relatives, as well as expert evaluation of the Russian version by specialists and decentering.

Results: The testing procedure involved 8 geriatric patients (age 61-77 years, men/women - 3/5), as well as their relatives/other close persons; 8 specialists participated in the questionnaire (age 24-52 years, all women). Based on the data of interviewing patients and their relatives, an acceptable indicator of the external validity of the Russian version of the tool was established, according to the results of the questionnaire of specialists, its substantive validity was confirmed.

Stem Cell-Based Trophoblast Models to Unravel the Genetic Causes of Human Miscarriages.

Miscarriage affects approximately 15% of clinically recognized pregnancies, and 1-3% of couples experience pregnancy loss recurrently. Approximately 50-60% of miscarriages result from chromosomal abnormalities, whereas up to 60% of euploid recurrent abortions harbor variants in candidate genes. The growing number of detected genetic variants requires an investigation into their role in adverse pregnancy outcomes.

Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene.

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.

Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility. ICGi040-A cells have karyotype 47,XY,+r(4) in 97% of cells and express a set of pluripotent markers, as well as are able to differentiate in vitro into derivatives of all three embryonic germ layers.