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ISEV2019 Abstract Book

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ISEV2018 абстрактная книга

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Всемирный конгресс молекулярного воображения 2022.

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Навигатор биомаркеров человека.

Биомаркеры играют ключевую роль в современных исследованиях медицины, особенно в ранней диагностике заболеваний и персонализированном лечении. Несмотря на то, что предыдущие исследования систематически обзоры маркеров в различных областях заболеваний, интегрированная система, которая связывает основные физиологические системы, охватывает множество органов и охватывает широкий спектр заболеваний, все еще отсутствует. В контексте современных вызовов здоровья, характеризующихся высокой распространенностью хронических заболеваний и широкими сопутствующими заболеваниями, создание панорамной системы

Совпадение в аннотации оригинала
Biomarkers play a pivotal role in contemporary medical research, particularly in the early diagnosis of diseases and personalized treatment. … Furthermore, it provides a theoretical basis for a reorientation in medicine, from a focus on 'treating existing diseases' to 'preventive interventions' and from 'single-disease management' to a comprehensive, systems-based approach. To facilitate the exploration and application of this system-organ-disease-biomarker network, we developed the "Human …

Abstracts - IANCON 2025

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Nail disorders in pediatric patients: Part 1. Clinical overview, diagnosis and management of physiological variants, and congenital, hereditary, and infectious etiologies.

Nail disorders in children are relatively common and anxiety-provoking for families, yet frequently underrecognized in clinical practice. Many nail disorders in children require no treatment or are readably treatable; however, unfamiliarity may lead to unnecessary, inappropriate, or delayed treatment. In this part 1 of a 2-part continuing medical education series we review physiological variants and congenital, hereditary, and infectious nail disorders, and provide diagnostic and management tips for dermatologists managing these conditions.

Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report.

OBJECTIVE: To describe the use of two simultaneous trophectoderm biopsies as a method to establish linkage analysis for preimplantation genetic testing for monogenic disorders (PGT-M) test development in a case of de novo incontinentia pigmenti (IP). DESIGN: Case report. SUBJECT: A 29-year-old nulligravid woman with de novo IP, confirmed to have the common, large deletion of exons 4-10 in the IKBKG gene. Negative maternal testing confirmed the mutation was de novo in our patient. EXPOSURE: Two simultaneous trophectoderm biopsies from a minimum of four embryos were obtained to enable two ind…

A case of Incontinentia Pigmenti associated with concurrent IKBKG/NEMO and MED13L mutations.

Incontinentia Pigmenti (IP; OMIM#308300) and syndromic intellectual disability (ID) (MRFACD; OMIM#616789) are two genetically dominant rare diseases. Their phenotypes are characterized by distinctive clinical signs: IP is caused by skin and neuroectodermal abnormalities with highly variable expression, while MRFACD is caused by a broad range of neurologic manifestations, including ID, hypotonia, ophthalmological abnormalities, motor delay, abnormalities in cerebral magnetic resonance, and a remarkable speech delay. The two diseases have genetically different causes: IP is an X-linked disorder …

Incontinentia Pigmenti With Neonatal Encephalopathy: A Case Report and Literature Review.

BackgroundIncontinentia pigmenti (IP) is an X-linked neurocutaneous disorder caused by mutations in the IKBKG gene located at the Xq28 locus. This multisystem condition is primarily diagnosed based on 4 clinical criteria, including characteristic cutaneous manifestations. Among its various complications, neurologic involvement is a major contributor to morbidity and mortality.Case presentationWe present a neonate diagnosed with IP who developed acute neurologic complications shortly after birth. Neuroimaging revealed punctate areas of restricted diffusion with superimposed petechial hemorrhage…

Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.

OBJECTIVE: To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal testing and multidisciplinary care in the next-generation sequencing (NGS) era. METHODS: Three unrelated families with recurrent male NIHF and negative chromosomal microarray analysis/NGS results were investigated. Genetic counselors conducted detailed maternal history-taking and physical examinations to identify subtle ectodermal features suggestive of IP. Targeted long-range…

Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy.

Incontinentia pigmenti (IP) is a rare, X-linked dominant condition characterized by a perinatal rash as well as abnormalities of the central nervous system (CNS), eyes, hair, nails, and teeth. The CNS and ophthalmic manifestations are potentially severe and may lead to neurologic impairment and vision loss. Due to the rarity of IP, there remains a limited understanding of its physiology, and the guidelines for screening, clinical staging, and management of complications remain controversial. To address these gaps, a multidisciplinary, international conference on IP was held in Charlotte, North…

Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti.

OBJECTIVE: Incontinentia pigmenti (IP) is a rare genetic condition that can lead to blindness. Clinical practice for screening for the ocular complications of IP is variable. Current literature lacks consensus for the screening, classification, and treatment of IP-related eye disease despite substantial risk of retinal detachment (RD) and blindness. This report summarizes the state of knowledge and establishes expert guidance for screening, classification, and treatment of IP-related eye disease from the International Conference on Incontinentia Pigmenti (ICIP) sponsored by the National Founda…