Whole-exome sequencing and human leukocyte antigen analysis in familial myasthenia gravis with thymoma: Case report and literature review

Nakamura, Yoshitsugu; Sato, Hidenori; Miyano, Yuki; Murakami, Ryoko; Motoki, Mikiko; Shigekiyo, Taro; Sugino, Masakazu; Arawaka, Shigeki

doi:10.1016/j.clineuro.2021.106864

Cited by 4 publications

(2 citation statements)

References 29 publications

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“…В настоящее время клиническое значение комплекса мутаций этих генов в случае протяженной делеции до конца неизвестно, однако есть научные работы по выявлению корреляций между поломками описанных ниже генов и развитием определенных патологических состояний. Патогенные варианты в гене ENOX1 в гомозиготном состоянии могут быть ассоциированы с развитием семейной аутоимунной миастении [13,14], а сам ген рассматривается как кандидат, влияющий на вербальную память [15]. Ген ITM2B связан с развитием семейной датской и семейной британской деменций, а также может играть роль в развитии болезни Альцгеймера [16].…”

Section: Discussionunclassified

Features of molecular genetic diagnosis of retinoblastoma

Zelenova

Козлова

Yugay

et al. 2023

Ross. ž. det. gematol. onkol.

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Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.

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Section: Discussionunclassified

Features of molecular genetic diagnosis of retinoblastoma

Zelenova

Козлова

Yugay

et al. 2023

Ross. ž. det. gematol. onkol.

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“…Beginning stage AChR antibodies in myasthenia gravis: Early-onset myasthenia gravis have its early symptoms before the age of 50, according to the criteria. Antibodies to AChR in the plasma are identified by standard indicative testing [23]. This myasthenia gravis subgroup excludes patients who have a thymoma discovered on imaging or after medical treatment.…”

Section: Figure 1 History Of Myasthenia Gravismentioning

confidence: 99%

Overview of Myasthenia Gravis Subgroups and its influence on Pregnancy and their Treatment Advances

Wal¹,

Wal²,

Pandey³

et al. 2022

Pharmacophore

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Antibodies that attack the neuromuscular junction induce myasthenia gravis, an immunological illness. Such antibodies assault and degrade postsynaptic molecules in by binding to the postsynaptic muscular end-plate. As a consequence, signal transduction is disrupted, resulting in muscular weakness and fatigability. Developments in our knowledge of the immunological mechanisms that cause myasthenia gravis have paved the way for the development of new targeted immunity treatments. The majority of myasthenia gravis sufferers have a well-managed condition with just minor to moderate symptoms. The goal must be to create more targeted therapies that reduce or enhance tolerance to the well-known and particular autoimmune reactions that result in autoantibody formation and muscular weakening. Several drugs widely used in obstetrics can aggravate the condition. The impact of maternity on myasthenia varies greatly from one woman to the next, as well as from one pregnancy to the next within the same woman. Acetylcholine esterase inhibitors, corticosteroids, and other immunosuppressants, as well as proper rest, are the most common therapy. Intrauterine antibody exposure can cause in utero or neonatal effects in newborns, which are usually temporary. This review focuses on myasthenia gravis subgroups and treatment breakthroughs, as well as the influence of myasthenia gravis on pregnancy and its management.

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Clinical Features, Treatment, and Prognostic Factors of Childhood-Onset Myasthenia Gravis in a Large Chinese Cohort

Zhang

et al. 2023

Pediatric Neurology

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Whole-exome sequencing and human leukocyte antigen analysis in familial myasthenia gravis with thymoma: Case report and literature review

Cited by 4 publications

References 29 publications

Features of molecular genetic diagnosis of retinoblastoma

Features of molecular genetic diagnosis of retinoblastoma

Overview of Myasthenia Gravis Subgroups and its influence on Pregnancy and their Treatment Advances

Clinical Features, Treatment, and Prognostic Factors of Childhood-Onset Myasthenia Gravis in a Large Chinese Cohort

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