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Exploring human plasma proteomic variations in mucolipidosis type IV.

Mucolipidosis IV (MLIV) is an autosomal-recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by loss of function of the lysosomal channel transient receptor potential mucolipin-1, TRPML1, and is associated with an early brain phenotype consisting of glial reactivity, hypomyelination, and lysosomal abnormalities. Although the field is approaching the first translationally relevant therapy, we currently lack a molecular signature of disease that can be used to detect therapeutic efficacy. Here, we analyzed 7,322 proteins in the plasma proteome f

Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.

BackgroundChronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency characterized by recurrent infections and aberrant inflammation due to defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.Case presentationWe report a case of recurrent pneumonia and significantly elevated IgE levels in an adolescent. Metagenomic next-generation (mNGS) sequencing contributed to the identification of Burkholderia multivorans in bronchoalveolar lavage fluid and the initiation of appropriate treatment. Whole exome sequencing (WES) revealed two point mutations

Idiopathic osteoporosis, Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder in a 27-year-old male patient: A unique case presentation.

A young male patient presents with widespread pain and varying chronic inflammatory symptoms for three years and idiopathic low bone density for more than ten years. Based on the patient's clinical history, the patient has been diagnosed with an hypermobile Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder trifecta with affiliated inflammation-induced osteoporosis.

Guidelines for the management of osteoporosis and fragility fractures.

The purpose of this document, a result of the harmonisation and revision of Guidelines published separately by the SIMFER, SIOMMMS/SIR, and SIOT associations, is to provide practical indications based on specific levels of evidence and various grades of recommendations, drawn from available literature, for the management of osteoporosis and for the diagnosis, prevention, and treatment of fragility fractures. These indications were discussed and formally approved by the delegates of the Italian Scientific Associations involved in the project (SIE, SIGG, SIMFER, SIMG, SIMI, SIOMMMS, SIR, and SIO

Gene expression-based prediction of myeloma cell sensitivity to histone deacetylase inhibitors.

BACKGROUND: Multiple myeloma (MM) is still a fatal plasma cell cancer. Novel compounds are currently clinically tested as a single agent in relapsing patients, but in best cases with partial response of a fraction of patients, emphasising the need to design tools predicting drug efficacy. Histone deacetylase inhibitors (HDACi) are anticancer agents targeting epigenetic regulation of gene expression and are in clinical development in MM. METHODS: To create a score predicting HDACi efficacy, five MM cell lines were treated with trichostatin A (TSA) and gene expression profiles were determined.

Unmet Needs and Challenges in Cancer-Associated Venous Thromboembolism.

Cancer-associated venous thromboembolism (CA-VTE) is a significant complication in oncology, contributing to morbidity, mortality, and increased healthcare utilization. Due to multiple patient- and disease-related factors, patients with cancer are at a markedly elevated risk for VTE, particularly within the first 6 months of diagnosis. The aim of this review is to provide an overview of current challenges and unmet needs in CA-VTE prediction, prevention and management. While the Khorana score remains the most widely used risk stratification tool, its limited sensitivity has prompted the develo

Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care.

Natural-history datasets have become pivotal for drug development and for shaping clinical-practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment-outcome, and regulatory advances into a practical framework for capturing and interpreting natural-history data, using Gaucher disease (GD) as a paradigm. We reviewed more than 300 peer-reviewed articles (2005-2025), FDA guidance documents, and output from large real-world registries. Part

Совпадение в полном тексте источника
… Woo , et al., “ Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease ,” Movement Disorders 38 , no. 5 ( 2023 ): 899 – 903 . 36869417 10.1002/mds.29342 PMC10271962 34 E. G. Woo , N. Tayebi , and E. …

Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.

Mastocytosis is a hematologic neoplasm characterized by expansion and focal accumulation of neoplastic mast cells (MC) in diverse organs, including the skin, bone marrow (BM), spleen, liver, and gastrointestinal tract. The World Health Organization classification divides the disease into prognostically distinct variants of cutaneous mastocytosis (CM) and systemic mastocytosis (SM). Although this classification remains valid, recent developments in the field and the advent of new diagnostic and prognostic parameters created a need to update and refine definitions and diagnostic criteria in MC n

Status and Future Directions of Therapeutics and Prognosis of Cardiac Amyloidosis.

Accumulation of aberrant proteins in the heart causes cardiac amyloidosis, an uncommon and complicated illness. It can be classified into two main types: light chain (AL) and transthyretin (ATTR). The diagnosis of cardiac amyloidosis is challenging due to its non-specific clinical presentation and lack of definitive diagnostic tests. Diagnostic accuracy has increased with the advent of modern imaging methods, including cardiac magnetic resonance imaging (MRI) and positron emission tomography (PET) scans. Depending on the severity of cardiac amyloidosis, a number of treatments may be attempted

Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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Next generation sequencing: new tools in immunology and hematology.

One of the hallmarks of the adaptive immune system is the specificity of B and T cell receptors. Thanks to somatic recombination, a large repertoire of receptors can be generated within an individual that guarantee the recognition of a vast number of antigens. Monoclonal antibodies have limited applicability, given the high degree of diversity among these receptors, in BCR and TCR monitoring. Furthermore, with regard to cancer, better characterization of complex genomes and the ability to monitor tumor-specific cryptic mutations or translocations are needed to develop better tailored therapies

Потенциал транскраниального прямого течения (tDCS) в повышении качества жизни пациентов с множественным склерозом: обзор и обсуждение механизмов действий.

Фон/цели: Множественный склероз (MS) является наиболее распространенным неизлечимым нетравматическим расстройством у молодых людей. Она вызывает многочисленные симптомы, включая покалывание, усталость, мышечные спазмы, когнитивные расстройства и нервно - психические расстройства. Это заболевание значительно ухудшает качество жизни (QoL), и этот аспект общего функционирования обеспечивает ценную информацию об эффективности лечения и благосостояния. Существует психологическая помощь, которая может улучшить QoL, но ее количество ограничено. Поэтому поиск новых методов, которые были бы как можно б

Individuals with Restless Legs Syndrome Tend to have Severe Depressive Symptoms: Findings from a Community-Based Cohort Study.

Restless legs syndrome (RLS) is a sensorimotor neurological disturbance causing physical and psychological distress. Here, we investigated the severity and effect of depressive symptoms in RLS among a Korean cohort population. Depressive symptoms were more prevalent in the RLS group than in the non-RLS group [≥mild depression: odds ratio (OR)=1.95, p<0.001; ≥ moderate depression: OR=6.15, p<0.001; and ≥severe depression: OR=56.54, p<0.001], with a predominant proportion of severe depression (97%) in the RLS group. We found that difficulty falling asleep (OR=8.16, p<0.001), broken sleep (OR=11.

Efficacy and Safety of Pegfilgrastim in Patients With Severe Congenital Neutropenia.

BACKGROUND: Severe congenital neutropenia (SCN) is commonly treated with granulocyte colony-stimulating factor (G-CSF) to reduce neutropenia and the associated risk of infections. Pegfilgrastim, a long-acting form of G-CSF, provides the benefit of less frequent dosing; however, its application in SCN has not been extensively studied. This study aims to assess the long-term safety and effectiveness of transitioning SCN patients from standard G-CSF therapy to pegfilgrastim. METHODS: We followed eight patients with severe congenital neutropenia (five males, average age 17.8 years) who had been o

5-Hydroxymethylcytosine modifications in circulating cell-free DNA: frontiers of cancer detection, monitoring, and prognostic evaluation.

Developing accurate, clinically convenient, and non-invasive methods for early cancer detection, monitoring, and prognosis assessment is essential for improving patient survival rates, enhancing quality of life, and reducing the socioeconomic burden associated with cancer. This goal is critical in precision oncology. Genetic and epigenetic alterations in circulating cell-free DNA (cfDNA) have emerged as transformative tools for advancing early cancer detection, monitoring, and improving patient outcomes. Among these, 5-hydroxymethylcytosine (5hmC) modifications in circulating cfDNA stand out a

Precision genomic profiling in Gaucher disease: insights from atypical presentations.

BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.MethodsThis study leveraged a well-characterized, longitudinally followed cohort

Совпадение в полном тексте источника
… Polygenic parkinson’s disease genetic risk Score as risk modifier of parkinsonism in gaucher disease . Mov. Disord. 38 ( 5 ), 899 – 903 . 10.1002/mds.29342 36869417 PMC10271962 Boddupalli C. S. Nair S. Belinsky G. Gans J. Teeple E. Nguyen T. H. ( 2022 ). …

The Applications of Machine Learning in the Management of Patients Undergoing Stem Cell Transplantation: Are We Ready?

Hematopoietic stem cell transplantation (HSCT) is a life-saving therapy for hematologic malignancies, such as leukemia and lymphoma and other severe conditions but is associated with significant risks, including graft versus host disease (GVHD), relapse, and treatment-related mortality. The increasing complexity of clinical, genomic, and biomarker data has spurred interest in machine learning (ML), which has emerged as a transformative tool to enhance decision-making and optimize outcomes in HSCT. This review examines the applications of ML in HSCT, focusing on donor selection, conditioning re

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

BACKGROUND: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. AIM: The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify 'at-risk' patients who may benefit from diagnostic testing. METHODS: An anonymous, three-round Delphi consensus process was depl

Искусственный интеллект, видоизменяющий парадигму гематологического диагноза и лечения злокачественных заболеваний: от статической оценки до динамического управления точностью.

Искусственный интеллект (ИИ) все чаще изучается в качестве инструмента содействия более точному и динамичному управлению диагностикой и лечением гематологов. В отличие от предыдущих обзоров, в которых основное внимание уделялось отдельным типам заболеваний или изолированным технологическим путям, в настоящем документе содержится всеобъемлющий обзор текущих прикладных программ АИШ и последних достижений в области диагностики, классификации, оценки прогнозов и принятия решений по лечению лейкемии, лимфомы, множественной миэломы и миэлодиспластических синдромов. Она охватывает ключевые технически

Революционизация медицины сна: влияние машинного обучения на диагностику, лечение и индивидуальное лечение.

Преобразовательным инструментом в медицине сна стало обучение основам махинации (ML), предлагающее новаторские решения для диагностики, лечения и понимания расстройств сна. В настоящем обзоре рассматривается нынешнее состояние и будущий потенциал применения ML в этой области. Methods Мы провели всеобъемлющий обзор литературы с уделением особого внимания ключевым достижениям в области технологий ML, применяемых для лечения сна. Были изучены, в частности, такие конкретные области, как классификация стадий сна, оптимизация лечения апноэ и бессонницы сна, а также внедрение износостойкой технологии