Summary Russia has one of the highest prevalences of paediatric chronic hepatitis C infection (CHC). Our aim was to provide a detailed characterization of children and adolescents with CHC including treatment outcomes. Thus, an observational study of children with CHC aged <18 years was conducted in three hepatology centres from November 2014 to May 2017. Of 301 children (52% male), 196 (65%) acquired HCV vertically, 70 (23%) had a history of blood transfusion or invasive procedures, 1 injecting drug use and 34 (11%) had no known risk factors. Median age at HCV diagnosis was 3.1 [interquartile range, IQR 1.1, 8.2] and 10.8 [7.4, 14.7] at last follow‐up. The most common genotype was 1b (51%), followed by 3 (37%). Over a quarter of patients (84, 28%) had raised liver transaminases. Of 92 with liver biopsy, 38 (41%) had bridging fibrosis (median age 10.4 [7.1, 14.1]). Of 223 evaluated by transient elastography, 67 (30%) had liver stiffness ≥5.0 kPa. For each year, increase in age mean stiffness increased by 0.09 kPa (95% CI 0.05, 0.13, P < 0.001). There was significant correlation between liver stiffness and biopsy results (Tau‐b = 0.29, P = 0.042). Of 205 treated with IFN‐based regimens, 100 (49%) had SVR24. Most children (191, 93%) experienced adverse reactions, leading to treatment discontinuation in 6 (3%). In conclusion, a third of children acquired HCV via nonvertical routes and a substantial proportion of those with liver biopsy had advanced liver disease. Only half of children achieved SVR24 with IFN‐based regimens highlighting the need for more effective and better‐tolerated treatments with direct‐acting antivirals. Further studies are warranted in Russia on causes and prevention of nonvertical transmission of HCV in children.

BackgroundNiemann–Pick disease type C is a rare metabolic disease characterized by progressive neurological deterioration with childhood onset, and often results in premature mortality. Niemann–Pick disease type C has an extremely heterogeneous clinical presentation with a wide range of visceral and neurological signs and symptoms that are not specific to the disease, and which progress over varied periods of time. The incidence and epidemiology of Niemann–Pick disease type C in Russia have not been characterized. We report the case of a Russian newborn with early-infantile onset Niemann–Pick disease type C who displayed prolonged neonatal jaundice and hepatosplenomegaly.Case presentationA 5-year-old white boy born to non-consanguineous Russian parents was originally diagnosed with galactosemia at the age of 2 months based on a raised blood galactose level. A galactose-free and lactose-free diet resulted in achievement of a normal galactose level, but hepatosplenomegaly and cholestatic signs persisted. Liver biopsy results hinted at possible Niemann–Pick disease type C, but differential diagnostic investigations for progressive familial intrahepatic cholestasis type 2 (Byler syndrome) indicated a heterozygous genotype suggestive of this disease. Further, progressive neurological symptoms prompted additional genetic analyses for possible Niemann–Pick disease type C, from which an as-yet unreported combination of known NPC1 gene mutations was identified, and a final diagnosis of Niemann–Pick disease type C was established. The patient subsequently developed typical neurological symptoms of early-infantile Niemann–Pick disease type C, including vertical supranuclear ophthalmoparesis and cerebellar ataxia. Miglustat therapy was initiated 2.5 years ago, and some improvements in movement and speech have since been observed.ConclusionsThis case illustrates the continued challenges associated with diagnosing Niemann–Pick disease type C based on the appearance of nonspecific cholestatic symptoms. Based on this case we recommend examination of all newborns and children who display unexplained cholestasis or isolated splenomegaly/hepatosplenomegaly during the first months of life for other signs of possible Niemann–Pick disease type C.

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Гемангиомы полости носа -относительно редко встречающиеся доброкачественные опухоли, диагностика и лечение которых может вызывать определенные затруднения. Цель работы -анализ данных литературы и описание двух клинических наблюдений гемангиомы перегородки носа.Ключевые слова: гемангиомы перегородки носа, диагноз, лечение, ринохирургия.

Эндотоксин (ЭТ), или липополисахарид (ЛПС) грамнегативной микрофлоры, в зависимости от условий воздействия на организм способен либо снижать риск развития аллергических заболеваний и бронхиальной астмы (БА), либо быть фактором патогенеза, утяжеляющего течение БА. ЭТ окружающей среды может препятствовать формированию БА, снижать гиперреактивность бронхов, воспаление дыхательных путей и уровень IgEl-антител путем стимуляции Т1- и торможения Т2-иммунного ответа. Протективный эффект ЭТ по отношению к развитию БА может отменятся антропогенным загрязнением окружающей среды промышленными и бытовыми отходами, качественным и количественным нарушением микробиоценозов, ассоциированных со слизистыми оболочками, а также генетическими, эпигенетическими и метаболомными особенностями, определяющими интегральный ответ организма на ЭТ. Патогенетический эффект ЭТ при БА связан с участием ЭТ в формировании хронического воспаления. Потенциально ЭТ может быть фактором патогенеза всех известных эндотипов и фенотипов БА. Известные на сегодняшний день способы снижения негативного воздействия ЭТ на организм больного БА с позиций доказательной медицины имеют ограниченную эффективность и требуют дальнейшего изучения. The role of endotoxin (ET) depends on the conditions of the body exposure. ET or lipopolysaccharide (LPS) of gram-negative flora is able either to be protective from the risk of allergic diseases and asthma, or to perform as a pathogenetic factor to aggravate the course of asthma. Environmental ET can inhibit development of asthma, reduce bronchial hyperactivity and airway inflammation, decrease IgE by stimulating the Т1 immune response and inhibiting Т2. The ET protection from the development of asthma may be abolished by anthropogenic pollution of the environment with industrial and household wastes; qualitative and quantitative disruption of macro- and microbiocenoses, immune systems associated with mucous membranes; and various genetic, epigenetic, and metabolic determinants of the body response to ET. The pathogenic effect of ET in asthma is related with the pro-inflammatory effect of ET on the development of chronic inflammation. ET may contribute to the pathogenesis of all known asthma endotypes and phenotypes. The efficacy of methods for reducing the effect of ET on asthma is limited, and these methods require further research.