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Геномический диагноз детских расстройств: революция и эволюция.

Мощные, последние достижения в технологиях анализа генома оказали глубокое воздействие на практику медицинской генетики как в лаборатории, так и в клинике. Более широкое использование общегеномных тестов, таких, как анализ хромосомных микроарра и последовательность экзомов, привело к переходу к "генотипному" подходу. В настоящее время имеются многочисленные методы диагностики конкретного синдрома или фенотипа, и, хотя традиционные методы остаются эффективными инструментами в некоторых ситуациях, технологии с более высокой производительностью фактически стали лабораторным инструментом диагности

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… dystrophy 1 | AD | DMPK | 3′UTR | CTG | 5–34 | 50–10,000 Myotonic dystrophy 2 | AD | CNBP | Intron | CCTG | 11–26 | 75–11,000 Friedreich ataxia | AR | FXN | Intron | GAA | 5–33 | 66–1,300 Frontotemporal dementia and/or lateral sclerosis 1 | AD | C9orf72 | Intron | GGGGCC | <25 | >60 Unverricht-Lundborg … The repeats can be located in the 5′ untranslated region (FXS), exon (HD), intron (Friedreich ataxia), or 3′ untranslated region (Myotonic dystrophy 1) of a gene ( 116 – 119 ). …

Advances in antisense oligonucleotide treatment for cancer.

RNA therapeutics, including antisense oligonucleotides (ASOs), have emerged as a promising class of drugs, with several already approved for clinical use. To date, most approved ASO-based RNA therapies target non-malignant disorders such as neurodegenerative diseases, and only a single therapy in this class has been approved for cancer. Notably, nearly half of existing RNA therapeutics act by modulating RNA splicing. Given the growing evidence implicating aberrant RNA splicing in cancer pathogenesis, the development of ASO-based therapeutics for oncologic indications is expected to accelerate.

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… Preclinical studies demonstrated correction of spliceopathy and reduction of DMPK RNA and nuclear foci in multiple myotonic dystrophy type 1 models. The compound is now in Phase I/II clinical evaluation ( NCT05481879 ) [ 80 ]. … FORCE platform overcomes barriers of oligonucleotide delivery to muscle and corrects myotonic dystrophy features in preclinical models. Commun Med (Lond) 2025;5:22. 10.1038/s43856-025-00733-w. 81. O'Brien SG, Guilhot F, Larson RA, et al. …

Safety and Efficacy of Givinostat for Patients with Muscular Dystrophy: A Systematic Review.

INTRODUCTION: Muscular dystrophy (MD) refers to a group of genetic disorders leading to progressive weakness and degeneration of skeletal muscle. Among them, Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common types. Histone deacetylase inhibitors (i.e., givinostat) is a recently approved therapy for DMD. In this systematic review, we aimed to evaluate givinostat in MD patients regarding safety and efficacy. METHODS: A systematic review was performed according to the PRISMA guidelines by searching through Medline, Embase, Cochrane Library, and Web of Scie

Резюме 18th Неевромускульная научно-исследовательская конференция Соединенного Королевства 15th и 16th апрель 2025.

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… An overview of the past decade of biomarker research in muscular diseases, with a particular focus on a paradigmatic strategy for identifying biomarkers of direct pathophysiological relevance is provided where Myotonic Dystrophy Type 1 serves as a case study, highlighting a targeted approach to biomarker …

Characteristics of postictal headache in patients with partial epilepsy.

Insmed is developing mecasermin rinfabate, a recombinant complex of insulin-like growth factor-I (rhIGF-I) and binding protein-3 (rhIGFBP-3) … DA) worth USD $6.5 million to investigate the efficacy of mecasermin rinfabate for the treatment of myotonic dystrophy. It has also been granted orphan drug status for the treatment of GHIS-Laron syndrome in the US and Europe. In December 2003, Insmed announced that mecasermin rinfabate was designated orphan drug status by the FDA for the treatment of extreme insuli …

Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy.

Skeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein synthesis. Genetics, ageing, nerve injury, weightlessness, cancer, chronic diseases, the accumulation of metabolic byproducts and other stimuli can lead to muscle atrophy. Muscular dystrophy is a neuromuscular disorder, part of which is caused by the deficiency of dystrophin protein and is mostly related to genetics. Muscle atrophy and muscular

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… Q., et al., “MBNL1 Reverses the Proliferation Defect of Skeletal Muscle Satellite Cells in Myotonic Dystrophy Type 1 by Inhibiting Autophagy via the mTOR Pathway,” Cell Death & Disease 11 (2020): 545. 61. …

Antibodies to watch in 2026.

The Antibodies to Watch article series provides annual updates on commercial late-stage clinical development, regulatory review, and marketing approvals of antibody therapeutics. Since the first article was published in 2010, the late-stage pipeline has grown from 26 antibody therapeutics to over 200, while during the same time numerous molecules in late-stage studies either transitioned to regulatory review and were approved or were terminated. In this installment of the series, we recap first marketing approvals granted to 19 antibody therapeutics in 2025, discuss 26 molecules currently in r

Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.

Extreme hypertriglyceridemia, defined as triglyceride (TG) levels ≥1000 mg/dL, is almost always indicative of chylomicronemia. The current diagnostic approach categorizes individuals with chylomicronemia into familial chylomicronemia syndrome (FCS; prevalence 1-10 per million), caused by the biallelic combination of pathogenic variants that impair the lipolytic action of lipoprotein lipase (LPL), or multifactorial chylomicronemia syndrome (MCS, 1 in 500). A pragmatic framework should emphasize the severity of the phenotype and the risk of complications. Therefore, we endorse the term "persiste

Сравнительное исследование распространенности усталости у лиц с заболеваниями: систематический обзор и мета-анализ.

Усталость является одним из наиболее распространенных симптомов у лиц с заболеваниями или нарушениями, значительно влияющих на качество жизни (КЖ) и прогноз заболеваний. Настоящее исследование направлено на всестороннее сравнение особенностей усталости в широком спектре заболеваний. Мы систематически искали данные в базах данных PubMed и Cochrane Library с момента их создания до 31 марта 2021 года и провели метаанализ для получения точных оценок. Анализы проводились по классификации заболеваний, полу и степени усталости (умеренная и тяжелая), а качество исследований оценивалось с использование

Может ли тренировка улучшить качество жизни и физические функции пациентов с множественными миеломами?: Обсуждение прогресса в обучении.

СПРАВОЧНАЯ ИНФОРМАЦИЯ: В предыдущих исследованиях сообщалось об отсутствии каких-либо улучшений в качестве жизни или физической функции после тренировок у пациентов с множественной миеломой без четкого объяснения. Цель настоящего исследования заключалась в том, чтобы изучить последствия проведения тренировочной подготовки для этих результатов и определить, можно ли объяснить наблюдаемые результаты характеристиками учебной программы. МЕТОДЫ: Sixteen пациентам с множественными миеломами, прошедшим индукционную терапию первой линии, было поручено two группы. One группа2 мужчины, 6 женщины, 52.6 ±

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… Effect of exercise training on functional capacity and body composition in myotonic dystrophy type 2 patients Muscle Nerve 2021 63 477 483 10.1002/mus.27156 33373039 25. Ratamess N.A. Alvar B.A. Evetoch T.K. Housh T.J. Kibler W.B. Kraemer W.J. FACSM Triplett T. …

Распространение профилей метилирования ДНК без клеток в качестве неинвазивных множественных склерозовых биомаркеров: исследование, подтверждающее концепцию.

В случае хронических нейродегенеративных заболеваний, таких, как множественный склероз (MS), остро ощущается потребность в экономически эффективных неинвазивных биомаркерах крови для одновременной классификации подтипов заболеваний, мониторинга степени инвалидности и прогнозирования долгосрочного прогресса. В этом концептуальном исследовании мы провели последовательность последовательности целых геномов-бисульфитов (РГБС) с низким охватом 75 Отбор проб ДНК без ячеек (CfDNA) с использованием хорошо известной реальной группы потенциальных клиник с продольными показателями инвалидности. Мы провел

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… Finally, ZNF37A, previously implicated in myotonic dystrophy, 47 was the most enriched TFBS in DMRs, distinguishing A-RRMS from S-RRMS. Tissue-of-origin inferred from cfDNA methylation varied significantly across MS subtypes. …

Neurology

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Paediatric intestinal pseudo-obstruction: a scoping review.

Paediatric intestinal pseudo-obstruction (PIPO) encompasses a group of rare disorders in which patients present with the clinical features of bowel obstruction in the absence of mechanical occlusion. The management of PIPO presents a challenge as evidence remains limited on available medical and surgical therapy. Parenteral nutrition is often the mainstay of therapy. Long-term therapy may culminate in life-threatening complications including intestinal failure-related liver disease, central line thrombosis and sepsis. Intestinal transplantation remains the only definitive cure in PIPO but is a

The updated landscape of tumor microenvironment and drug repurposing.

Accumulating evidence shows that cellular and acellular components in tumor microenvironment (TME) can reprogram tumor initiation, growth, invasion, metastasis, and response to therapies. Cancer research and treatment have switched from a cancer-centric model to a TME-centric one, considering the increasing significance of TME in cancer biology. Nonetheless, the clinical efficacy of therapeutic strategies targeting TME, especially the specific cells or pathways of TME, remains unsatisfactory. Classifying the chemopathological characteristics of TME and crosstalk among one another can greatly b

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… Metformin Metformin is a well-known traditional antidiabetic drug, but its involvement in cancer, tuberculosis infection, and myotonic dystrophy has been increasingly observed. 211 – 213 Metformin reportedly exerts antitumor activity in multiple cancers, such as gastric and thyroid cancers. 214 , 215 …

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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Targeting neuroinflammation: 3-monothiopomalidomide a new drug candidate to mitigate traumatic brain injury and neurodegeneration.

BACKGROUND: Traumatic Brain Injury (TBI) is a major risk factor for neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease (AD), with neuroinflammation playing a critical role in the secondary cell death that exacerbates the initial injury. While targeting neuroinflammation holds significant therapeutic promise, clinical trials of available anti-inflammatory agents have fallen short. 3-Mono-thiopomalidomide (3-MP), a novel immunomodulatory imide drug (IMiD), was designed to curb inflammation without the adverse effects of traditional IMiDs and was evaluated across

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… Changes in RDI have been noted across several disease models beyond TBI, including amyotrophic lateral sclerosis [ 49 ] and myotonic dystrophy type 1 [ 110 ]. …

The Production Processes and Biological Effects of Intravenous Immunoglobulin.

Immunoglobulin is a highly diverse autologous molecule able to influence immunity in different physiological and diseased situations. Its effect may be visible both in terms of development and function of B and T lymphocytes. Polyclonal immunoglobulin may be used as therapy in many diseases in different circumstances such as primary and secondary hypogammaglobulinemia, recurrent infections, polyneuropathies, cancer, after allogeneic transplantation in the presence of infections and/or GVHD. However, recent studies have broadened the possible uses of polyclonal immunoglobulin showing that it ca

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… However, the half-life of IgG can be abnormally short in certain conditions, e.g., protein-losing enteropathy, nephrotic syndrome, IgG paraproteinemia, and myotonic dystrophy. …

Эффективность транскраниальной электрической стимуляции в сочетании с двухзадачной подготовкой по вопросам инсульта, слабого когнитивного расстройства и болезни Паркинсона: систематический обзор и метаанализ случайных контролируемых испытаний.

АИМ: В рамках этого систематического обзора и метаанализа мы провели оценку эффективности транскраниальной непосредственной стимуляции тока (tDCS) и транскраниальной переменной тока (tACS) или транскраниальной случайной стимуляции шума (TRNS) в сочетании с двойной целевой подготовкой (DTT) по вопросам физических и когнитивных функций у взрослых с незначительными когнитивными нарушениями (MCI), болезнью Паркинсона (PD) и инсульта. МЕТОД: Мы провели систематический поиск баз данных сети &quot; Web of Science &quot; , &quot; MedLINE &quot; , &quot; Cochrane Bibrary &quot; , &quot; PubMed &quot; и

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… Characterizing cognitive-motor impairments in patients with myotonic dystrophy type 1 . Neuromuscul. Disord. 30 , 510 – 520 . doi: 10.1016/j.nmd.2020.04.005 , 32527589 Franchini E. Fukuda D. H. Lopes-Silva J. P. ( 2020 ). …

Perturbing Enhancer Activity in Cancer Therapy.

Tight regulation of gene transcription is essential for normal development, tissue homeostasis, and disease-free survival. Enhancers are distal regulatory elements in the genome that provide specificity to gene expression programs and are frequently misregulated in cancer. Recent studies examined various enhancer-driven malignant dependencies and identified different approaches to specifically target these programs. In this review, we describe numerous features that make enhancers good transcriptional targets in cancer therapy and discuss different approaches to overcome enhancer perturbation.

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… Targeting nuclear RNA for in vivo correction of myotonic dystrophy Nature 2012 488 111 115 10.1038/nature11362 22859208 PMC4221572 187. Parker S.C.J. Stitzel M.L. Taylor D.L. Orozco J.M. Erdos M.R. Akiyama J.A. van Bueren K.L. Chines P.S. Narisu N. Program N.C.S. …

II Brazilian Consensus on the use of human immunoglobulin in patients with primary immunodeficiencies.

In the last few years, new primary immunodeficiencies and genetic defects have been described. Recently, immunoglobulin products with improved compositions and for subcutaneous use have become available in Brazil. In order to guide physicians on the use of human immunoglobulin to treat primary immunodeficiencies, based on a narrative literature review and their professional experience, the members of the Primary Immunodeficiency Group of the Brazilian Society of Allergy and Immunology prepared an updated document of the 1st Brazilian Consensus, published in 2010. The document presents new know