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Диагностика генетической и иммуноистотохимической полезности H3-3A Анализ мутации в гигантском клеточном ощущении кости.

Проверка надежности и внедрение объективного диагностического метода для гигантской опухоли клеток кости (ГТБ). H3-3A Проведен анализ генов на мутации с использованием two - различные методы, последовательность действий Sanger и анализ иммунохимического (ICC). Всего 214 пациентов, в том числе 120 с ГТБ и 94 В исследовании приняли участие и другие гигантские повреждения костей, богатые клетками. Последовательность сангеров и IHC с антихистоун H3.3 G34W и G34V антитела были выполнены на формализованных тканях с парафинами, которые в случае необходимости ранее были отделены от ЭДТА. Чувствительно

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… The following filters were used: FISH USP6 probe: 4′,6-diamidino-2-phenylindole (DAPI), spectrum orange/red filter, red signal for 3′ USP6 , spectrum green/green filter, green signal for 5′ USP6 ; MDM2 probe: DAPI, spectrum orange/red filter, MDM2 gene, spectrum green/green filter, centromere 12. …

Positive Autoantibody Is Associated with Malignancies in Patients with Idiopathic Interstitial Pneumonias.

Various autoantibodies are associated with clinical outcomes in patients with idiopathic interstitial pneumonias (IIPs). We retrospectively analyzed the association between autoantibodies and malignancies in IIP patients. Comprehensive analyses of autoantibodies were performed using immunoprecipitation and enzyme-linked immunosorbent assays in 193 consecutive IIP patients. Cancer-related factors were analyzed using logistic regression analysis. In total, 22 of 193 patients (11.4%) with IIP had malignant disease. In univariate analysis, positivity for any autoantibody (odds ratio (OR), 3.1; 95%

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… Antibodies to Ro52, histidyl-tRNA synthetase (Jo-1), centromere protein A and B (CENP-A and CENP-B), and MDA-5 were measured by enzyme-linked immunosorbent assays, as described previously [ 25 ]. All recombinant proteins were purchased from Diarect (Freiburg, Germany). …

Ячейки памяти в инфекциях и автономном иммунитете: механизмы, функции и терапевтические последствия.

Клетки памяти имеют ключевое значение для способности адаптивной иммунной системы запоминать и эффективно реагировать на ранее встречавшиеся патогены. В то время как клетки памяти обеспечивают надежную защиту от инфекций, они могут также способствовать автоматическому иммунитету в тех случаях, когда регулирование оказывается неэффективным. Здесь мы анализируем роль клеток памяти Т и В в инфекции и автоматическом иммунитете, с уделением особого внимания их дифференциации, активации, функций воздействия и основополагающих механизмов регулирования. Мы подробно остановимся на конкретных механизмах

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… Systemic Sclerosis (SSc): A study showed that memory B cells in SSc patients produce autoantibodies against topoisomerase I and centromere proteins, which are associated with the pathogenesis of the disease [ 62 ]. …

Cellular Senescence and Aging: Mechanisms, Disease Convergence, and Therapeutic Frontiers.

Cellular senescence, a stress-induced, irreversible cell cycle arrest coupled with a proinflammatory secretory phenotype, has emerged as both a central driver of aging and a tractable therapeutic target. Although acute senescence contributes beneficially to tumor suppression and wound healing, chronic accumulation of senescent cells sustains systemic inflammaging and accelerates organ dysfunction. This review synthesizes current progress in aging biology into a unified mechanistic and translational framework. We first examine how primary aging hallmarks, such as genomic instability and epigene

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… Consistent with this, intestinal deletion of the H3K9 methyltransferase SETDB1 in mice triggers genomic instability and inflammation in the stem cell compartment [ 43 ], and erasure of centromeric DNA methylation causes chromosome missegregation and aneuploidy [ 44 ]. … J., et al., “DNA Methylation Influences human Centromere Positioning and Function,” Nature Genetics 57, no. 10 (2025): 2509–2521. 45. Xiao F. H., Wang H. T., Chen X. …

A comprehensive review of Sjögren's syndrome: Classification criteria, risk factors, and signaling pathways.

Sjögren's syndrome (SS) is a chronic autoimmune disease that affects the exocrine glands and may lead to a range of systemic symptoms that impact various organs. Both innate and adaptive immune pathways might trigger the disease. Studying the signaling pathways underlying SS is crucial for enhancing diagnostic and therapeutic effectiveness. SS poses an ongoing challenge for medical professionals owing to the limited therapeutic options available. This review offers a comprehensive understanding of the intricate nature of SS, encompassing disease classification criteria, risk factors, and signa

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… Additionally, a high human T-cell leukemia virus type I viral load in situ is considered to promote the production of transforming growth factor beta, resulting in fibrous changes to the salivary glands in patients with anti-centromere-antibody-seropositive SS [ 64 ]. … HTLV-I virological and histopathological analysis in two cases of anti-centromere-antibody-seropositive Sjögren's syndrome Mod. Rheumatol. 23 1 2013 133 139 10.1007/s10165-012-0641-x 22526828 65 Lee S.J. Lee J.S. Shin M.G. …

Fanconi syndrome induced by the long-term use of tenofovir disoproxil fumarate: a case report and literature review.

We present the case of a woman of 50 years of age who experienced widespread bone pain along with digestive symptoms, including nausea and vomiting. She had been prescribed tenofovir disoproxil fumarate (TDF) tablets for the treatment of hepatitis B. Laboratory testing revealed low circulating phosphorus and potassium concentrations and acidosis. A whole-body bone scan revealed abnormal bone metabolism. Rheumatologic and urologic conditions were ruled out, and therefore TDF-induced Fanconi syndrome (FS) and related bone pain was diagnosed. After the TDF was discontinued, the patient's symptoms

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… 24-hour urine creatinine; KET, ketones; ACR, albumin/creatinine ratio; UOSM, urine osmolality; SG, specific gravity; A-dsDNA, anti-double-stranded DNA antibody; A-SM, anti-Smith antibody; ANA, anti-nuclear antibody; RNP, ribonucleoprotein; PCNA, proliferating cell nuclear antigen; CENPB, recombinant centromere …

Системный склероз-ассоциированный ILD: Понимание и ограничения ScleroID

Справочная информация/цель: Участие лёгких в системном склерозе (SSc), как правило, оценивается с использованием тестов легочных функций (PFT), CT с высоким разрешением (HRCT) и составных индексов. Результаты, о которых сообщают пациенты (ПРО), включая СклероИД, позволяют получить представление о качестве жизни, однако их связь с клиническими мерами и роль в общей оценке заболеваний остается неясной. Оценить корреляцию между показателями СклероИД и участием легких и активностью/повреждением заболеваний в группе пациентов SSC-ILD из крупного центра третичной медицинской помощи. Методы: Деятельн

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… ) | 6.2 (2.1) | 37.1 (15.8) | 10.2 (4.1) | 4.5 (2.4) lcSSc( n = 38) | 5.8 (2.0) | 30.8 (13.9) | 8.9 (3.3) | 3.6 (2.1) SSc disease duration a ≤3 years ( n = 43) | 5.8 (1.8) | 32.1 (13.2) | 9.1 (3.7) | 4.0 (2.3) >3 years ( n = 39) | 6.3 (1.6) | 36.9 (16.0) | 10.2 (3.8) | 4.2 (2.4) Autoantibodies Anti-centromere …

Systemic Sclerosis and Malignancy: A Review of Current Data.

Systemic sclerosis (SSc) is associated with increased risk of malignancy. The organ systems most commonly affected are the lungs, the breasts and the hematological system. Risk factors predisposing a SSc patient for development of malignancy are not well defined, and the pathogenic basis of the association is yet to be explained. The incidence of malignancies in SSc patients is variable from one report to another, but most importantly, questions regarding the role of immunosuppressive therapies and the effect of autoantibodies have weak or sometimes contradictory answers in most of the current

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… In another prospective case control study conducted on patients with cancer diagnosed within 3 years of SSc onset, 55.3% were RNA polymerase positive while only 13.6% were positive for anti-topoisomerase 1 and 22% positive for anti-centromere [ 13 ]. …

The Story of Localized Amyloidosis: Something Old and Something New - A Case Series.

Localized amyloidosis is a rare benign disease characterized by extracellular deposition of misfolded proteins in a specific organ without systemic involvement, which might lead to organ dysfunction. Patients with localized amyloidosis do not develop systemic diseases such as cardiac, renal, hepatic, or nerve involvement. Typically, the localized disease is managed by surgical resection, while the systemic disease is treated with a combination chemotherapy and immunotherapy. However, some patients can have challenging clinical presentations, delaying diagnosis and organ dysfunction, and they m

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… The antinuclear antibody (ANA) panel was positive for ANA and anti-centromere antibodies. Figure 5. Histologic sections of a right tibial mass demonstrating nodular deposits of amorphous eosinophilic material consistent with amyloid. …

Множественная миелома в молодом возрасте из центра лечения рака третьей ступени в Индии.

Множественная миелома (ММ) является главным образом болезнью пожилых людей; данные о молодых пациентах ограничены. ≤ 40 Мы ретроспективно проанализировали вновь диагностированные пациенты MM в возрасте ≤ 40 годы между 2013 и 2021. РЕШЕНИЙ 1980 - пациентов, прошедших обследование; 110 (В тыс.5.5%) были ≤ 40 годы (средний возраст) 36). Гиперкальцемия, почечная дисфункция, анемия и повреждения костей (CRAB) 11.9%, 17.3%, 42.7%, и 92.6% пациентов соответственно. Более one- третий этап Международной системы уплотнения (МСУ), 20.8% HR цитогенетики и 21.6% :: заболевания легких цепочек (ЛЦД). Множест

Cytogenetic Abnormalities in Myelodysplastic Syndromes: An Overview.

Karyotype is one of the main constituents of the International Prognostic Scoring System (IPSS) and revised-IPSS that are the cornerstones for the prognostication of patients with myelodysplastic syndromes (MDS). Del(5q), -7/del(7q), +8 and -Y are among the most extensively studied cytogenetic abnormalities in MDS. The same applies for normal karyotype. There are hundreds of other rare cytogenetic abnormalities that have been reported in MDS, included but not limited to -X, 3q abnormalities, +13/del(13q), i(17q), +21/-21. However, due to a very low number of patients, their impact on the progn

The 8p11 myeloproliferative syndrome: Genotypic and phenotypic classification and targeted therapy.

EMS(8p11 myeloproliferative syndrome, EMS) is an aggressive hematological neoplasm with/without eosinophilia caused by a rearrangement of the FGFR1 gene at 8p11-12. It was found that all cases carry chromosome abnormalities at the molecular level, not only the previously reported chromosome translocation and insertion but also a chromosome inversion. These abnormalities produced 17 FGFR1 fusion genes, of which the most common partner genes are ZNF198 on 13q11-12 and BCR of 22q11.2. The clinical manifestations can develop into AML (acute myeloid leukemia), T-LBL (T-cell lymphoblastic lymphoma),

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… ZNF198 is located at 13q11-12, and its orientation is from the telomere to the centromere. … Owing to the opposite directions of MYO18A and FGFR1 at the centromere, the MYO18A-FGFR1 fusion is not only formed by a simple chromosome balanced translocation but also involves an inversion. …

Using ncRNAs as Tools in Cancer Diagnosis and Treatment-The Way towards Personalized Medicine to Improve Patients' Health.

Although the first discovery of a non-coding RNA (ncRNA) dates back to 1958, only in recent years has the complexity of the transcriptome started to be elucidated. However, its components are still under investigation and their identification is one of the challenges that scientists are presently facing. In addition, their function is still far from being fully understood. The non-coding portion of the genome is indeed the largest, both quantitatively and qualitatively. A large fraction of these ncRNAs have a regulatory role either in coding mRNAs or in other ncRNAs, creating an intracellular

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… As for the DNA, there are portions of the genome that store information that is strictly connected to the DNA; indeed, this part of the genome is normally not transcribed at all—for example, in centromeres and telomeres, in which (i) the information is stored in the DNA sequence itself; (ii) the cellular … Chapter 5 Centromeres and telomeres Princ. Med. Biol. 1995 2 93 120 10.1016/S1569-2582(06)80038-3 7. Achrem M. Szućko I. Kalinka A. The epigenetic regulation of centromeres and telomeres in plants and animals Comp. Cytogenet. 2020 14 265 311 10.3897/CompCytogen.v14i2.51895 32733650 PMC7360632 8. …

Sp140L функционирует как фактор ограничения герпесвируса, подавляющий вирусную транскрипцию и активирующий интерферонально-стимулированные гены.

Герпесвирусы, включая вирус Эпштейн-Барр (ЭБВ), - человеческий онкогенный вирус и важнейший пусковой механизм множественного склероза, - должны обходить механизмы ДНК-разведки, чтобы установить пожизненную скрытую инфекцию. Поэтому герпесвирусы кодируют вирусные белки, чтобы разрушить ключевые факторы, связанные с зондированием ДНК и вирусным ограничением. Первый вирусный белок латентности, выраженный EBNA-LP, крайне важен для преобразования наивных клеток B и установления вирусного генного экспрессии, однако его роль в уклонении от защиты хостов остается неясной. Используя одноклеточную после

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… Genes upregulated in WT-infected cells were associated with factors including NFκB subunits; CENPA—a centromere protein and transcriptional regulator that forms a complex with YY1 ( 50 ) which we recently identified as an EBNA-LP-interacting protein ( 40 ); and IRF4, which can suppress ISG transcription …

Revealing the pharmacological effects of Remodelin against osteosarcoma based on network pharmacology, acRIP-seq and experimental validation.

Osteosarcoma (OS) is the most common primary malignant tumor of bone. Remodelin, an inhibitor of the N (4)-Acetylcytidine (ac4C) acetylation modifying enzyme N-acetyltransferase 10 (NAT10), has been shown to have therapeutic effects on cancer in several studies, and our previous studies have confirmed the inhibitory effect of Remodelin on OS cells, however, the mechanism of action has not yet been elucidated. We used network pharmacological analysis to quantify the therapeutic targets of Remodelin against OS. acRIP-seq and RNA-seq were performed to investigate the inhibitory activity of Remode

Association of initial diagnostic setting and referral delay with mortality in systemic sclerosis: a nationwide database cohort study.

BACKGROUND: Early diagnosis and prompt referral are critical for improving outcomes in systemic sclerosis (SSc), yet disparities in diagnostic capabilities between healthcare levels may delay treatment and impact survival. This study aimed to compare mortality risk among SSc patients based on their diagnostic pathway: initial diagnosis at a secondary care hospital before referral versus prompt referral and diagnosis at a tertiary center. METHODS: Using National Health Security Office cohort data (fiscal years 2016-2023), we identified 17,036 patients aged ≥ 18 years with SSc (ICD-10 M34) diag

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… Fifth, the NHSO database lacks clinical variables essential for SSc prognostication, including disease subset classification (limited versus diffuse cutaneous SSc), autoantibody profiles (anti-topoisomerase I, anti-centromere, anti-RNA polymerase III), modified Rodnan skin score, pulmonary function parameters …

Xerostomia due to systemic disease: a review of 20 conditions and mechanisms.

Xerostomia is a common complaint of nearly half of the elderly population and about one-fifth of younger adults. It causes several signs and symptoms, and compromise oral functions and health-related quality-of-life. Multiple reasons are proposed to describe the etiology of xerostomia such as local factors, psychogenic factors, and systemic diseases. In order to manage xerostomia effectively, identification of the main causality is mandatory. The aim of this review was to present systemic diseases leading to xerostomia with their mechanisms of action. We used various general search engines and

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… J Rheumatol 2012 39 809 15 22382336 10.3899/jrheum.111075 57 Hida A Kawabe Y Kawakami A Migita K Tominaga M Nakamura H HTLV-I associated Sjögren's syndrome is aetiologically distinct from anti-centromere antibodies positive Sjögren's syndrome Ann Rheum Dis 1999 58 320 2 10225819 10.1136/ard.58.5.320 …

Targeting Nuclear Exporter Protein XPO1/CRM1 in Gastric Cancer.

Gastric cancer remains an unmet clinical problem in urgent need of newer and effective treatments. Here we show that the nuclear export protein, Exportin 1 (XPO1, chromosome region maintenance 1 or CRM1), is a promising molecular target in gastric cancer. We demonstrate significant overexpression of XPO1 in a cohort of histologically diverse gastric cancer patients with primary and metastatic disease. XPO1 RNA interference suppressed gastric cancer cell growth. Anti-tumor activity was observed with specific inhibitor of nuclear export (SINE) compounds (selinexor/XPOVIO), second-generation comp

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… Another explanation might otherwise be due to the synergy between inhibited microtubules due to paclitaxel and inhibited centromere formation via XPO1 inhibition [ 56 ]. …

Статистическая колокализация вариантов генетического риска для связанных с ними аутоиммунных заболеваний в контексте общих мер контроля.

Определение того, можно ли совместно использовать потенциальные причинно-следственные варианты сопутствующих заболеваний, может выявить переплетающиеся этиологии многофакторных расстройств. Методы колокализации разъединяют общие и разные причинно-следственные варианты. Однако существующие подходы требуют независимых наборов данных. Здесь мы протянем two Методы совместной локализации, позволяющие осуществлять общий контроль, обычно используемые для сопоставления результатов исследований по различным болезням в масштабах всего генома. Наш анализ four аутоиммунные заболевания - тип 1 диабет (T1D)

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… The nearest genes are MIR588 about which little appears to be known and CENPW (centromere protein W) which has no obvious functional candidacy. …

Ongoing clinical trials and treatment options for patients with systemic sclerosis-associated interstitial lung disease.

SSc is a rare CTD that affects multiple organ systems, resulting in substantial morbidity and mortality. Evidence of interstitial lung disease (ILD) is seen in ∼80% of patients with SSc. Currently there is no approved disease-modifying treatment for ILD and few effective treatment options are available. CYC is included in treatment guidelines, but it has limited efficacy and is associated with toxicity. MMF is becoming the most commonly used medication in clinical practice in North America and the UK, but its use is not universal. Newer agents targeting the pathogenic mechanisms underlying SSc

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… The primary endpoint is FVC, and secondary endpoints include FVC according to antibody (anti-centromere and anti-topoisomerase1) profile, QoL (36-item Short Form), Mahler Transition Dyspnoea Index and adverse events. …