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Тип 1 Диабет и многоразовый склероз делятся общей генной переменой автономного иммунитета.

Справочная информация/цели: тип 1 диабет (T1D) и множественный склероз (MS) являются аутоиммунными, многофакторными, специфическими для органов расстройствами, обусловленными иммунными клетками. Их соучастие отчасти объясняется общими генетическими и экологическими факторами. Мы стремились расчленить общую генетическую архитектуру между T1D и MS с использованием крупномасштабных исследований по общегеномной ассоциации (GWAS) и анализа совместной локализации. Методы: Мы применили Байесовскую систему совместной локализации к two Крупномасштабные наборы данных GWAS: исследование T1D, включающее 1

Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications.

As recreational use of cannabis is being decriminalized in many places and medical use widely sanctioned, there are growing concerns about increases in cannabis use disorder (CanUD), which is associated with numerous medical comorbidities. Here we performed a genome-wide association study of CanUD in the Million Veteran Program (MVP), followed by meta-analysis in 1,054,365 individuals (ncases = 64,314) from four broad ancestries designated by the reference panel used for assignment (European n = 886,025, African n = 123,208, admixed American n = 38,289 and East Asian n = 6,843). Population-spe

Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.

Type 1 diabetes affects millions of people globally and requires careful management to avoid serious long-term complications, including heart and kidney disease, stroke, and loss of sight. The type 1 diabetes patient cohort is highly heterogeneous, with individuals presenting with disease at different stages and severities, arising from distinct etiologies, and overlaying varied genetic backgrounds. At present, the "one-size-fits-all" treatment for type 1 diabetes is exogenic insulin substitution therapy, but this approach fails to achieve optimal blood glucose control in many individuals. Wit

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… A type 1 diabetes genetic risk score predicts progression of islet autoimmunity and development of type 1 diabetes in individuals at risk. Diabetes Care. 2018;41(9):1887–1894. doi: 10.2337/dc18-0087. 55. … A type 1 diabetes genetic risk score can aid discrimination between type 1 and type 2 diabetes in young adults. Diabetes Care. 2016;39(3):337–344. doi: 10.2337/dc15-1111. 81. Thomas NJ, Jones SE, Weedon MN, Shields BM, Oram RA, Hattersley AT. …

Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report.

We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 (TRAF2) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiquitin ligase protein and is predicted to diminish the binding affinity of TRAF2 to upstream receptors and associated adaptor proteins. Integrative genomics revealed a biallelic loss of TRAF2 via partial copy-neutral loss-of-heterozygosity of 9q in the medulloblastoma genome. We further performed comparative analysis with an in-house cohort of 2

Association of genetic variants with patient reported quality of life and pain experience in patients in the UK NCRI Myeloma X Relapse [Intensive]) trial; an exploratory study.

The Myeloma X trial provided a platform to explore genetics in relation to systematic assessment of patient-reported outcomes at key points during salvage treatment in multiple myeloma (MM) patients. Blood DNA was obtained in 191 subjects for single nucleotide polymorphism (SNP) genotyping. By univariable analysis, the non-coding rs2562456 SNP, upstream of LINC00664, was associated with several relevant pain and health-related quality-of-life (HRQoL) scores at 100 days after allocation to consolidation with autologous stem cell transplantation or weekly cyclophosphamide. Presence of the minor

Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk.

Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci. We aimed to investigate single-nucleotide polymorphisms (SNP) in regulatory regions [transcription factor binding sites (TFBSs) and enhancers] that could change the expre

Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.

Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ∼ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many

Association of the Val66Met Polymorphism of the BDNF Gene with the Depression in a Mexican Population with Multiple Sclerosis.

UNLABELLED: Multiple sclerosis (MS) is a chronic, autoimmune pathology that affects the nervous system. It is characterized by inflammatory lesions that cause axonal damage with neurodegeneration. The signs and symptoms present in this pathology include among others, psychiatric disorders. In MS, depression is the most frequent psychiatric disorder, with prevalence levels of 40 to 60%; to date, the cause is unknown. The brain-derived neurotrophic factor (BDNF) is a neurotrophin related to neuroplasticity. The single-nucleotide polymorphism Val66Met, encoded by the BDNF gene, has been associate

Radial HR-pQCT and Finite Element Analysis in HPP Patients are Superior in Identifying Susceptibility to Fracture-Associated Skeletal Affections Compared to DXA and Laboratory Tests.

Hypophosphatasia (HPP) is an inborn disease that causes a rare form of osteomalacia, a mineralization disorder affecting mineralized tissues. Identification of patients at high risk for fractures or other skeletal manifestations (such as insufficiency fractures or excessive bone marrow edema) by bone densitometry and laboratory tests remains clinically challenging. Therefore, we examined two cohorts of patients with variants in the ALPL gene grouped by bone manifestations. These groups were compared by means of bone microarchitecture using high-resolution peripheral quantitative computed tomog

Ход работы сессии 31st Европейский педиатрический конгресс по педиатрии: часть 1.

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International Myeloma Working Group risk stratification model for smoldering multiple myeloma (SMM).

Smoldering multiple myeloma (SMM) is an asymptomatic precursor state of multiple myeloma (MM). Recently, MM was redefined to include biomarkers predicting a high risk of progression from SMM, thus necessitating a redefinition of SMM and its risk stratification. We assembled a large cohort of SMM patients meeting the revised IMWG criteria to develop a new risk stratification system. We included 1996 patients, and using stepwise selection and multivariable analysis, we identified three independent factors predicting progression risk at 2 years: serum M-protein >2 g/dL (HR: 2.1), involved to unin

Proceedings of the CIMAGO Congress - Environment, Genetics and Oncobiology in the 21st Century - Challenges and Opportunities.

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Питание N-6 Полиненасыщенное содержание жира в кислоте и здоровье мозга у взрослых людей среднего и старшего возраста.

ПАФА играет важную роль в возникновении и развитии нейродегенеративных заболеваний. С тех пор, как нейрозащитные эффекты n-3 ПУФА получил широкую поддержку, роль n-6 ПУФА по-прежнему обсуждается, а их основополагающие механизмы до сих пор не в полной мере понятны. В этом исследовании 169,295 Участники из Биобанка Соединенного Королевства были включены для анализа связей между питанием n-6 Поступление ПУФА и нейродегенеративные заболевания с использованием моделей коксовой регрессии с полной корректировкой для потенциальных сомнителей. Кроме того, для оценки воздействия различных моделей линейн

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… information can be downloaded at: https://www.mdpi.com/article/10.3390/nu16244272/s1 , Table S1: definitions of neurodegenerative diseases; Table S2: definitions of imaging phenotypes of brain gray matter; Table S3: definitions of covariates; Table S4: single-nucleotide polymorphisms used to build the genetic … risk score for DEM; Table S5: single-nucleotide polymorphisms used to build the genetic risk score for PD; Table S6: single-nucleotide polymorphisms used to build the genetic risk score for MS; Table S7: incidence rates of neurodegenerative diseases by sex; Table S8: associations of dietary n-3 PUFA …

ePoster.

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research progresses, novel insights into the molecular mechanisms are starting to provide support to clinical decision-making; now offering ample opportunities for disease screening, diagnosis, prognosis and treatment. Drug targets holding mechanisms with genetic support are more likely to be successful. Therefore, implementing genetic information to the

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

Доклад по делу: Синдром Рефрактора Эванса two Пациенты, страдающие спондилоэндродисплазией с иммунной дисрегуляцией, успешно лечились с ингибицией JAK1/JAK2.

Biallelic мутации в гене ACP5 вызывают спондилоэндхондрисплазию с иммунной дисрегуляцией (SPENCDI). Для СЕНКОДИ характерна фенотипическая триада скелетной дисфункции, врожденная и адаптивная иммунная дисфункция, а также переменные неврологические результаты, начиная от асимптоматических кальцинаций мозга и заканчивая сильной задержкой в развитии и прививкой. Регулирование иммунной дискриминации в СИННКДИ часто является отходом от стандартного иммунодепрессивного лечения. Здесь мы представляем примеры two :: пациенты, страдающие синдромом SNNCDI и аутоиммунной цитопенией, которые продемонстриро

Abstracts - IANCON 2025

Аннотация не предоставлена источником. Откройте карточку для перехода к публикации.

Artificial Intelligence for Risk Stratification in Diffuse Large B-Cell Lymphoma: A Systematic Review of Classification Models and Predictive Performances.

Background: Diffuse large B-cell lymphoma (DLBCL) is a biologically heterogeneous malignancy, with various outcomes despite significant advances in therapeutic options. Current conventional prognostic tools, e.g., the International Prognostic Index (IPI), lack sufficient precision at an individual patient level. However, artificial intelligence (AI), including machine learning (ML) and deep learning (DL), can enable specialists to navigate complex datasets, with the final aim of improving prognostic models for DLBCL. Objectives: This scoping review aims to systematically map the current litera