Синдром мозжечковой атаксии, невропатии и вестибулярной арефлексии (CANVAS): обзор литературы

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleotide AAGGG expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety of clinical manifestations of this disease has expanded, including a combination of cerebellar ataxia and sensory neuropathy, as well as isolated sensory polyneuropathy/ganglionopathy. This review details current information on the etiology, pathogenesis, clinical presentation and diagnosis of CANVAS in order to increase the awareness of practitioners and early diagnosis of this disease.Мозжечковая атаксия, невропатия и вестибулярная арефлексия (синдром CANVAS) – относительно малоизученное аутосомнорецессивное нейродегенеративное заболевание, молекулярная основа которого была открыта лишь в 2019 г. и связана с носительством биаллельной пентануклеотидной экспансии AAGGG-повторов в гене RFC1. С появлением возможностей генетической диагностики расширились представления о фенотипическом спектре и разнообразии клинических проявлений данного заболевания, включая сочетание мозжечковой атаксии и сенсорной невропатии, а также изолированной сенсорной полиневропатии/ганглионопатии. В данном обзоре подробно освещены современные сведения об этиологии, патогенезе, клинической картине и диагностике синдрома CANVAS с целью увеличения осведомленности практикующих врачей и своевременной диагностики данного заболевания

Unrecorded alcohol consumption in Russia: toxic denaturants and disinfectants pose additional risks

In 2005, 30% of all alcohol consumption in Russia was unrecorded. This paper describes the chemical composition of unrecorded and low cost alcohol, including a toxicological evaluation. Alcohol products (n=22) from both recorded and unrecorded sources were obtained from three Russian cities (Saratov, Lipetsk and Irkutsk) and were chemically analyzed. Unrecorded alcohols included homemade samogons, medicinal alcohols and surrogate alcohols. Analysis included alcoholic strength, levels of volatile compounds (methanol, acetaldehyde, higher alcohols), ethyl carbamate, diethyl phthalate (DEP) and polyhexamethyleneguanidine hydrochloride (PHMG). Single samples showed contamination with DEP (275–1269 mg/l) and PHMG (515 mg/l) above levels of toxicological concern. Our detailed chemical analysis of Russian alcohols showed that the composition of vodka, samogon and medicinal alcohols generally did not raise major public health concerns other than for ethanol. It was shown, however, that concentration levels of DEP and PHMG in some surrogate alcohols make these samples unfit for human consumption as even moderate drinking would exceed acceptable daily intakes

THE UKRAINIAN STEPPE AS A REGION OF INTERCULTURAL CONTACTS BETWEEN ATLANTIC AND MEDITERRANEAN ZONES OF EUROPEAN MESOLITHIC

his volume contains the majority of the papers presented during a conference that took place on 16th-21st May, 1997 in Łódź, Poland. The conference was organized by the Institute of Archaeology, University of Łódź and Département d'anthropologie, Université de Montreal (Canada). The conference was funded by the University of Łódź and by IREX (International Research & Exchanges Board), which also supported this publication. The publication was partly founded by the University of Łódź and by the Foundation of Adam Mickiewicz University, too. The major questions of the conference were, 1) what is the current evidence for eastern or southern influences in the development of eastern European Mesolithic and Neolithic populations, and 2) to what extent are current political trends, especially the reassertion or, in some cases, the creation of ethnic and national identities, influencing our interpretations of the prehistoric data. The idea for such a conference came into being through the co-organizers' long-term studies of the development of those prehistoric human populations which inhabited the vast region stretching north and east from the Oder river and Carpathian Mountains to the foothills of the Urals. In a tradition established in modern times by Gordon Childe, virtually all of the transformations of Eastern Europe's Neolithic Age human landscape have been assumed to be responses to prior developments in the Balkan peninsula and Danube basin. We think that a body of new evidence requires a renewed analysis of the distributions of cultural products, peoples, and ideas across Eastern Europe during the Mesolithic through the Early Metal Age within a much wider geographic context than previously has been the case. This includes giving adequate attention to the far-ranging interactions of communities between the Pontic and Baltic area with those located in both the Caucasus and the Aralo-Caspian regions. We hope that this volume will contribute to such a redirection of future analyses

Neuronal and extraneuronal noradrenaline uptake and condition of the adrenoreactive structures of an isolated rat heart with compensatory myocardial hypertrophy

It was demonstrated on an isolated heart preparation that the intensity of neuronal noradrenaline uptake by a hypertrophied heart diminishes as compared to that by a control 6 and 30 days after constriction of the abdominal aorta, and that extraneuronal uptake tends to intensify in 6 days and decreases significantly in 30 days. These changes, together with the reduced adrenoreactivity of a hypertrophied heart in vitro may in 30 days contribute to weakening of the adrenergic control of the heart in its compensatory hypertrophy and hyperfunction under conditions of chronic overloading by pressure

Neuronal and extraneuronal noradrenaline uptake and condition of the adrenoreactive structures of an isolated rat heart with compensatory myocardial hypertrophy

It was demonstrated on an isolated heart preparation that the intensity of neuronal noradrenaline uptake by a hypertrophied heart diminishes as compared to that by a control 6 and 30 days after constriction of the abdominal aorta, and that extraneuronal uptake tends to intensify in 6 days and decreases significantly in 30 days. These changes, together with the reduced adrenoreactivity of a hypertrophied heart in vitro may in 30 days contribute to weakening of the adrenergic control of the heart in its compensatory hypertrophy and hyperfunction under conditions of chronic overloading by pressure

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleotide AAGGG expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety of clinical manifestations of this disease has expanded, including a combination of cerebellar ataxia and sensory neuropathy, as well as isolated sensory polyneuropathy/ganglionopathy. This review details current information on the etiology, pathogenesis, clinical presentation and diagnosis of CANVAS in order to increase the awareness of practitioners and early diagnosis of this disease

Визначення основних параметрів аварійно-пошукової системи для дистанційно-керованого самохідного підводного апарата

The technique methods of designing and defining the basic structural and operational characteristics of the emergency retrieval system for remote operated vehicle. The method takes into account the structural constraints and external meteorological conditions.Разработана методика проектирования и определения основных конструкционных и эксплуатационных  характеристик  аварийно-поисковой  системы  для  дистанционно- управляемого подводного аппарата. Методика учитывает конструкционные ограничения и внешние гидрометеорологические условия.Розроблено методику проектування і визначення основних конструкційних та експлуатаційних характеристик  аварійно-пошукової  системи  для  дистанційно-керованого  самохідного підводного апарата. Методика враховує конструкційні обмеження та зовнішні гідрометеорологічні умови