Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene

Aymé–Gripp syndrome is a rare autosomal dominant syndrome caused by mutations in the MAF gene and is characterized by a pronounced phenotypic polymorphism. The core of clinical signs consists of congenital cataracts, sensorineural hearing loss, specific dysmorphic facial features and intellectual disabilities. With varying frequency, patients have: radioulnar synostosis, Arnold–Chiari malformation, aseptic pericarditis, dental anomaly and osteoarthritis. The article presents the clinical and genetic characteristics of the first Russian patient with Aymé–Gripp syndrome caused by a newly identified mutation s.173C>A (p.Thr58Asn NM_005360.4) in a heterozygous state in the MAF gene. The influence of the lo calization and type of amino acid substitutions in the protein product of the gene on the severity and specificity of the clinical manifestations of the syndrome is discussed.

Unique Combination of Diamond–Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report

We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond–Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15’s locus with the capture of 82,662,932–84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond–Blackfan anemia and Lynch syndrome in the world is one per 480 million people.

Gastroenterological and psychological characteristics of patients seeking bariatric surgery

This original article discusses the main concomitant diseases and psychological problems of patients with morbid obesity seeking help from bariatric (metabolic) surgeons. The study was conducted on the basis of St. Petersburg State Medical University n. a. I. P. Pavlov, it was the most voluminous laboratory-instrumental and psychological examination, on the basis of which a peculiar portrait of a Russian patient with morbid obesity was compiled. Gastroenterological symptoms were predominant in patients with morbid obesity. Heartburn was the most common complaint. Non-erosive reflux disease was diagnosed in 35.0 % of patients, erosive esophagitis in 20.5 %, hiatal hernia of the 1st degree in 41.2 %, of the 2nd degree in 32.3 % of patients.

Distinctive Lexical Patterns in Russian Patient Information Leaflets: A Corpus-Driven Study

This methodologically-oriented corpus-driven study focuses on distinctive patterns of language use in a specialized text type, namely Russian patient information leaflets. The study’s main goal is to identify keywords and recurrent sequences of words that account for the leaflets’ formulaicity, and - as a secondary goal - to describe their discoursal functions. The keywords were identified using three methods (G2, Hedges’ g and Neozeta) and the overlap between the three metrics was explored. The overlapping keywords were qualitatively analyzed in terms of discoursal functions. As for the distinctive multi-word patterns, we focused on recurrent n-grams with the largest coverage in the corpus: these were identified using the Formulex method (Forsyth, 2015b), which provides complementary data with respect to more conservative n- gram and lexical bundles approaches. The results revealed that the most distinctive keywords were identified using Hedges’ g metric, that the largest overlap occurred between G2 and Neozeta metrics, and that the frequent use and discoursal functions of the identified lexical patterns correspond with situational contexts and communicative purposes of patient information leaflets. It is hoped that this study will provide an opportunity for a methodological reflection and inspire further corpus-driven research on distinctive recurrent lexical patterns (e.g., keywords, n-grams, lexical bundles) or - more generally - on formulaic language in texts originally written in Russian.

Micro-História e Psicanálise: Ginzburg discute o caso clínico Homem dos Lobos de Sigmund Freud

In search of a fruitful relationship between Psychoanalysis and History, this article aims to evaluate how Carlo Ginzburg, throughout his intellectual and academic career, discussed Psychoanalysis in the light of Micro-History. Thus, the work of Ginzburg Mitos, emblemas, sinais: morfologia e história was a rich source for this search. In the chapters Sinais: raízes de um paradigma indiciário and, especially, Freud, o homem dos lobos e os lobisomens, Ginzburg critically discusses Freud`s interpretations on his most important clinical case, a Russian patient named Serguei Constantinovitch Pankejeff (1887-1979), known as the Wolf man. Ginzburg recognizes the magnitude of Freud’s work, but he shows its limitations indicating that the author did not sufficiently consider his patient’s cultural background and gave a greater focus on individuation. Also, Ginzburg allowed demonstrating in his work the importance of Psychoanalysis in the development of the evidentiary paradigm concept, which is fundamental to Micro-history.

Systemic ATTR-amyloidosis, a Rare Form of Internal Organ Damage

The article presents the case report of a rare hereditary form of systemic ATTR-amyloidosis in Russian patient with a discussion of approaches to the diagnosis and treatment of this form, also based on the own experience in the management of such patients. Modern ideas about the pathogenesis of the disease as well as detailed information about the clinical manifestations of amyloid cardiopathy and of other organs are presented. The nature of structural and hemodynamic changes in the heart is discussed on the basis of experience, including own, ultrasound examination of the heart in patients with amyloidosis, especially the article focuses the reader's attention on the true infiltrative nature of transtiretin amyloid cardiopathy in contrast to AL-amyloidosis, in which there is a significant inflammatory component that determines a more unfavorable natural course of AL-amyloidosis of the heart. The article discusses the differential diagnosis of different types of amyloidosis, the diagnostic difficulties associated with weak congophilia of transtiretin amyloidosis and at the same time substantiates the need for morphological verification of the diagnosis. Modern methods of treatment of ATTR-amyloidosis are discussed.