Freud’s Unknown Russian Patient

Aim. To examine the association of signal transducer and activator transcription 4 (STAT4) rs7574865 G/T polymorphism with a predisposition to systemic sclerosis (SSC) and associated clinical and autoimmune phenotypes in a Russian population. Subjects and methods. A total of 102 patients with SSC and 103 healthy individuals as controls were examined. STAT4 rs7574865 polymorphism was investigated by real-time polymerase chain reaction. Results. The carriers of the T allele showed a statistically significant association with SSC, a diffuse form (DF), the presence of interstitial lung disease (ILD), cardiac injury (CI), and seropositivity for anti-topoisomerase I antibodies (ATA). Conclusion. The findings results confirm the important role of STAT4 gene in the predisposition to SSC and its phenotypes, such as DF, ILD, CI, and ATA in the Russian population.

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

Neuromuscular Diseases ◽

10.17650/2222-8721-2021-11-3-64-68 ◽

2021 ◽

Vol 11 (3) ◽

pp. 64-68

Author(s):

E. L. Dadali ◽

T. V. Markova ◽

O. P. Ryzhkova

Keyword(s):

Autosomal Dominant ◽

Clinical Signs ◽

Clinical Manifestations ◽

Protein Product ◽

Facial Features ◽

Heterozygous State ◽

Genetic Characteristics ◽

The Core ◽

Arnold Chiari Malformation ◽

Russian Patient

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.

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A FIRST AUTOCHTNOUS HUMAN CASE OF THE LONGSTANDINDG MICROFILARAEMIA DUE TO DIROFILARIA REPENS IN RUSSIA AND A FIRST EXPERIENCE OF COMBINED THERAPY OF DIROFILARIASIS REPENS

Epidemiology and Infectious Diseases (Russian Journal) ◽

10.17816/eid40741 ◽

2013 ◽

Vol 18 (3) ◽

pp. 47-52

Author(s):

A. M Bronshteyn ◽

N. A Malyshev ◽

S. N Jarov ◽

L. V Fedianina ◽

A. A Frolova ◽

...

Keyword(s):

Blood Vessels ◽

Combined Therapy ◽

Human Case ◽

Dirofilaria Repens ◽

Connective Tissues ◽

Internal Organs ◽

First Report ◽

Human Pathology ◽

Russian Patient

A case of the longstandindg microfilaraemia due to Dirofilaria repens is presented as a 57-years-old female . This is the first report of the longstandindg microfilaraemia in a Russian patient due to infection of D. repens. The microfilariae of D. repens were detected due to multiple investigations of fresh drops of blood. The longstandindg microfilaraemia due to D. repens is discussed regarding their role in human pathology. As the larvae mature into adult wormes they migrate through blood vessels and the subdermal connective tissues causing pruritis, oedematous lesions on the skin, itching and pain as they pass beneath the conjunctivae and penetrate internal organs. The patient was successfully treated with doxycycline, albendazole and diethylcarbamazine.

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RHEUMATOID ARTHRITIS IN RHEUMATOLOGICAL CARE OF RUSSIA: THE SEVERITY OF THE DISEASE IN A RUSSIAN PATIENT POPULATION: A CROSS-SECTIONAL EPIDEMIOLOGICAL STUDY (RAISER)

Rheumatology Science and Practice ◽

10.14412/1995-4484-2010-1406 ◽

2010 ◽

Vol 0 (1) ◽

pp. 50 ◽

Cited By ~ 6

Author(s):

O M Folomeeva ◽

E L Nasonov ◽

I A Andrianova ◽

E A Galushko ◽

D V Goryachev ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Epidemiological Study ◽

Patient Population ◽

Cross Sectional ◽

Severity Of The Disease ◽

Russian Patient

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ANTI-INTERLEUKIN-17 MONOCLONAL ANTIBODY FOR THE TREATMENT OF ANKYLOSING SPONDYLITIS: RESULTS OF ANALYSIS OF A RUSSIAN PATIENT GROUP FROM THE RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED MEASURE 1 AND MEASURE 2 TRIALS

Rheumatology Science and Practice ◽

10.14412/1995-4484-2017-17-25 ◽

2017 ◽

Vol 55 (1) ◽

pp. 17-25

Author(s):

Sh. F. Erdes ◽

L. N. Denisov ◽

A. L. Maslyansky ◽

O. B. Ershova ◽

M. L. Stanislav ◽

...

Keyword(s):

Monoclonal Antibody ◽

Ankylosing Spondylitis ◽

Patient Group ◽

Interleukin 17 ◽

Double Blind ◽

Double Blind Placebo ◽

Russian Patient

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Gastroenterological and psychological characteristics of patients seeking bariatric surgery

Medical alphabet ◽

10.33667/2078-5631-2020-37-5-10 ◽

2021 ◽

pp. 5-10

Author(s):

D. I. Vasilevsky ◽

S. G. Balandov ◽

K. A. Anisimova ◽

S. V. Tikhonov ◽

V. D. Dekkanova ◽

...

Keyword(s):

Bariatric Surgery ◽

Morbid Obesity ◽

Reflux Disease ◽

Erosive Esophagitis ◽

Psychological Characteristics ◽

Common Complaint ◽

Psychological Examination ◽

Seeking Help ◽

Medical University ◽

Russian Patient

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.

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