Цель-представить современные тенденции в диагностике и лечении эозинофильного эзофагита (ЭоЭ). Основные положения. В последние годы изучение ЭоЭ достигло качественно нового уровня: были проведены и закончены крупные рандомизированные контролируемые исследования, опубликованы результаты систематических обзоров, пересмотрены ключевые пункты этиопатогенеза заболевания. В настоящее время ставится под сомнение связь развития ЭоЭ с конкретными антигенами, тогда как генетически обусловленное нарушение барьерной функции пищевода и предрасположенность к раз витию иммунного ответа по пути активации Т-хелперов 2-го типа признаны ключевыми звеньями патогенеза заболевания. Дифференциальная диагностика ЭоЭ с гастроэзофагеальной рефлюксной болезнью считается нецелесообразной, поскольку данное заболевание зачастую служит дополнительным фактором, усугубляющим течение эозинофильного эзофагита, а в основе тарапии ЭоЭ лежит применение высоких доз ингибиторов протонной помпы. Понятие эозинофилии пищевода, разрешающейся на фоне применения ингибиторов протонной помпы, признано ошибочным. Заключение. Эозинофильный эзофагит-это хроническое иммуноопосредованное воспалительное заболевание пищевода. Диагностика ЭоЭ основана на характерной клинической картине дисфункции пищевода (дисфагия) в обязательной совокупности с выявлением эозинофильной инфильтрации слизистой оболочки пищевода при гистологическом исследовании. Базисная терапия эозинофильного эзофагита включает диетические ограничения, применение ингибиторов протонной помпы и топических кортикостероидов. Ключевые слова: эозинофильный эзофагит, эозинофилия пищевода, ингибиторы протонной помпы.
This review of bladder cancer describes modern clinical and pathologic features of the neoplasm, reports new data about treatment and prognosis of this disease.
Objective:
The molecular mechanisms of bladder cancer development and progression are not clear. Bladder cancer is an important focus for epidemiological studies and understanding clinical implications.
Goal:
The primary aim of prevention is achieved by limiting exposure to non-genetic risk factors such as smoking, diet, arsenic in drinking water, or aromatic amines at work or elsewhere. Current therapies for bladder cancer are affected by tumor morphology and associated acquired genetic mutations.
Methods:
A literature search was performed using PubMed, Scopus, ResearchGate, Google, MEDLINE, and ScienceDirect databases to find studies of bladder cancer published between 1984 and early 2020. The focus was articles that address epidemiological risk factors and underlying pathophysiological mechanism. Articles were selected that enabled our review of these factors as well as molecular and structural patterns.
Results:
There are multiple views of bladder cancer. The literature offers a number of novel insights regarding the development and progression of bladder cancer and possible biomarkers that may be useful in clinical and diagnostic practice.
Conclusion:
There are several molecular pathways associated with bladder cancer that are frequently updated. In addition, genetic subtypes of bladder tumors are not distinguished clearly that requires future more detailed analysis.
Lopes–Maciel–Rodan syndrome (LOMARS) is an extremely rare disorder, with only a few cases reported worldwide. LOMARS is caused by a compound heterozygous mutation in the HTT gene. Little is known about LOMARS pathogenesis and clinical manifestations. Whole exome sequencing (WES) was performed to achieve a definitive molecular diagnosis of the disorder. All NGS-identified variants underwent the Sanger confirmation. In addition, a literature review on genetic variations in the HTT gene was conducted. The paper reports a case of LOMARS in a pediatric patient in Russia. A preterm girl of non-consanguineous parents demonstrated severe psychomotor developmental delays in her first 12 months. By the age of 6 years, she failed to develop speech but was able to understand everyday phrases and perform simple commands. Autism-like behaviors, stereotypies, and bruxism were noted during the examination. WES revealed two undescribed variants of unknown clinical significance in the HTT gene, presumably associated with the patient’s phenotype (c.2350C>T and c.8440C>A). Medical re-examination of parents revealed that the patient inherited these variants from her father and mother. Lopes–Maciel–Rodan syndrome was diagnosed based on overlapping clinical findings and the follow-up genetic examination of parents. Our finding expands the number of reported LOMARS cases and provides new insights into the genetic basis of the disease.
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