Vera M. Shinkareva

P135 Analysis of the frequency of complications in cystic fibrosis: dynamics over 10 years according to the national register

A. Voronkova, E. Kondratyeva, S. Krasovskiy, E. Amelina et autres

ru, ua (code pays fourni par la source)

P104 The dynamics of health of children with cystic fibrosis in Russian Federation according to the registry data during last 10 years

E. Kondratyeva, A. Voronkova, E. Zhekaite, V. Sherman et autres

ru (code pays fourni par la source)

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Yulia P. Semschikova, Yurii A. Kozlov, Andrei B. Yakovlev, Vera M. Shinkareva et autres

Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA …

ru (code pays fourni par la source)

Registry of patients with primary immunodeficiency disorders in the Irkutsk region

Tatyana Pavlova, Vera M. Shinkareva

In this paper, the main epidemiological indicators of primary immunodeficiency disorders (PIDDs) in the Irkutsk region based on analysis of data from 66 patients registered in the PIDDs database from 2010 to November 2021 were studied. The prevalence of primary immunodeficiencies in …

ru (code pays fourni par la source)

Primary immunodeficiency in a child with heterotaxy

Tatyana Pavlova, Vera M. Shinkareva

Heterotaxy is a complicated symptom complex in which the location of the main internal organs differs from their normal and complete mirror reflection. Ivemark syndrome is a combination of spleen agenesis with congenital heart disease and abnormalities in the location of the …

ru (code pays fourni par la source)

Muckle-Wells syndrome (a clinical case)

T.V. Tolstikova, L.V. Bregel, A.E. Matyunova, Vera M. Shinkareva et autres

A clinical case of Muckle-Wells syndrome in a 3-years old child is presented. Muckle-Wells syndrome is among the group of human autoinflammatory diseases (cryopyrin-associated periodic syndromes) – rare genetic diseases characterised by systemic inflammation in absence of other revealed autoimmune and infectious …

ru (code pays fourni par la source)

Hunter Syndrome: Clinical Case of Early Diagnostics

Н. Н. Мартынович, Yulia P. Semshchikova, Natalya Y. Rudenko, Vera M. Shinkareva et autres

научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных и вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии лекарственных средств на плод, о проводимых в

ru (code pays fourni par la source)

Primary Immunodeficiencies in Russia: Data From the National Registry

Anna Mukhinа, Natalya B. Kuzmenko, Yulia Rodina, Irina Kondratenko et autres

Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. Materials and Methods. The Russian PID …

ru (code pays fourni par la source)

P039 National Cystic Fibrosis Patients Registry of Russia (RCFPR) from 2011–2018

E. Amelina, S. Krasovskiy, Elena Ivanovna Kondratieva, N. Kashirskaya et autres

fr, ru (code pays fourni par la source)

EPIDEMIOLOGY OF PRIMARY IMMUNODEFICIENCIES IN THE RUSSIAN FEDERATION

Anna Mukhinа, N. B. Kuzmenko, Yu. А. Rodina, А. L. Khoreva et autres

Difficulties in the diagnosis of Shwachman–Diamond syndrome

N. N. Martinovich, Yu. P. Semschikova, Vera M. Shinkareva, L. V. Holmogorova et autres

Summary: A case of Shwachman–Diamond syndrome with typicl symptoms of this disease (bone, intestinal, hematological) diagnosed in at an early age is described. Authors believe that the mainstreaming of discipline on orphan diseases with interdisciplinary diagnostic and medical approaches in training programs …

ru (code pays fourni par la source)

Сложности в диагностике синдрома Швахмана–Даймонда

Н. Н. Мартынович, Ю П Съемщикова, Vera M. Shinkareva, Л. В. Холмогорова et autres

Summary: A case of Shwachman–Diamond syndrome with typicl symptoms of this disease (bone, intestinal, hematological) diagnosed in at an early age is described. Authors believe that the mainstreaming of discipline on orphan diseases with interdisciplinary diagnostic and medical approaches in training programs …