scholarly journals Monogenic auto-inflammatory diseases in children and adults: what a rheumatologist should know

2019 ◽  
Vol 57 (2) ◽  
pp. 125-132 ◽  
Author(s):  
S. O. Salugina ◽  
E. S. Fedorov ◽  
E. M. Agafonova
Keyword(s):  
Inflammatory Diseases ◽  
Interleukin 1 ◽  
Molecular Genetic ◽  
Disease Onset ◽  
Organ Damage ◽  
Genetic Characteristics ◽  
Current State ◽  
Principles Of Treatment ◽  
Satisfactory Quality

The article presents information on the current state of the problem of autoinflammatory diseases (AID) in rheumatology, reflects the clinical and demographic, laboratory and molecular genetic characteristics of the main monogenic AID (mAID), the most common in real clinical practice. Approaches to the diagnosis and differential diagnosis of these conditions are presented. The variants of classification and diagnostic criteria of the most studied mAID are discussed. The principles of treatment with an emphasis on the use of targeted therapy with interleukin 1 (IL1) inhibitors are shown. The clinical examples demonstrate the variants of late diagnosis of the mAID in adult patients with the disease onset in childhood. Different variants of multi-organ damage are considered. Effectiveness of therapy with IL1β inhibitor kanakinumab is demonstrated. Even in such cases it provided the possibility of significant symptoms regression and restoration of a satisfactory quality of life.

scholarly journals Familial adenomatosis of the colon: current state of the problem

2018 ◽  
Vol 90 (2) ◽  
pp. 65-68
Author(s):  
O I Kit ◽  
Yu A Gevorkyan ◽  
N V Soldatkina ◽  
D A Haragezov ◽  
I Yu Efimova ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Colon Cancer ◽  
Rectal Resection ◽  
Rectal Anastomosis ◽  
Genetic Characteristics ◽  
Current State ◽  
Severity Of The Disease ◽  
Timely Treatment ◽  
Satisfactory Quality

The urgency of the problem of familial adenomatosis of the colon (FAC) is caused both by the severity of the disease with the inevitable development of cancer without timely treatment, and the involvement of the patient's blood relatives in this problem. Due to the rare incidence of this disease, many issues require discussion. Aim. To determine the possibility of timely treatment of FAC patients maintaining a satisfactory quality of life. Materials and methods. The data on 5 FAC patients and 12 their blood relatives were studied. Clinical, endoscopic and genetic characteristics of the disease and treatment were analyzed. Results. demonstrated that family history, genetic and endoscopic examinations allow diagnosis of FAC. Colectomy with rectal resection and the creation of a small intestine reservoir with reservoir-rectal anastomosis provide a sufficient quality of life for patients. Examination of the patient's blood relatives reveals new patients requiring additional examination and treatment. Conclusion. The problem of FAC is multidisciplinary and involves therapists, gastroenterologists, pediatricians, geneticists, endoscopists, radiologists, surgeons and oncologists. Only a timely diagnosis can help the patient to undergo radical treatment before the development of colon cancer.

scholarly journals Langdurige Covid: de contouren worden langzaam duidelijk

2021 ◽  
Author(s):  
K. Van den Heede ◽  
D. Castanares-Zapatero ◽  
L. Kohn ◽  
M. Dauvrin ◽  
J. Detollenaere ◽  
...  
Keyword(s):  
Online Survey ◽  
Inflammatory Responses ◽  
Organ Damage ◽  
Severe Form ◽  
Psychological Consequences ◽  
Current State ◽  
Loss Of Autonomy ◽  
Returning To Work ◽  
Depth Interviews

Long Covid: what is already known about this new condition? Long COVID affects people who have experienced a severe form of COVID-19, as well as patients who suffered a mild form. Six months after infection with the coronavirus, at least 1 out of 7 patients still have symptoms. These symptoms are very diverse and are probably related to a combination of different mechanisms: direct organ damage due to the viral infection, abnormal immune and inflammatory responses that can lead to dysfunctions on several levels (microcirculation, coagulation, fibrosis, autoimmunity, metabolism), consequences of the hospitalisation (muscle atrophy, post-intensive care syndrome) or worsening of existing comorbidities. The Belgian Healthcare Knowledge Centre (KCE) surveyed the experience of Belgian patients by means of an extensive online survey of 1,320 people, followed by an online forum and in-depth interviews. It showed that the perception of the symptoms was very diverse, with a clear reduction in the quality of life, some loss of autonomy and difficulties when returning to work. The psychological consequences could be severe. Based on the current state of science, it is not known which treatments are effective for long COVID. A symptom-oriented approach, focused on gradual multidisciplinary rehabilitation, seems appropriate. Therefore, the main recommendation of the KCE is to investigate the possibility of introducing an ‘interdisciplinary bilan’ for patients with different and interrelated complaints.

Inflammatory diseases of the pelvic organisms modern presentations about etiology, principles of diagnosis and treatment

2020 ◽  
pp. 7-14
Author(s):  
N.M. Hychka ◽  
◽  
O.A. Shcherba ◽  
L.D. Lastovetska ◽  
◽  
...  
Keyword(s):  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Reproductive Organs ◽  
Pelvic Peritoneum ◽  
Inflammatory Processes ◽  
Diagnostic Approaches ◽  
Principles Of Treatment ◽  
Relationship Of ◽  
The Relationship

Inflammatory diseases of the pelvic organs (PID) occupy the first place in the structure of gynecological morbidity and are one of the causes of dysfunction of not only the reproductive organs but also various systems of the female body, infertility, and a decrease in the quality of life. The PID includes inflammatory processes of the uterus, fallopian tubes, ovaries and pelvic peritoneum. The article presents modern views on etiological factors, stages of development of endogenous infection and its clinical manifestations. The mechanisms of endocrine and immune regulation of the vaginal microbiocenosis, as well as the relationship of endogenous microflora and pathogens of exogenous genital infections, are examined. Diagnostic approaches and principles of treatment of PID are presented, taking into account the severity of the infectious process. Key words: рelvic inflammatory diseases, salpingitis, endometritis, microbiocenosis, sexual exinfection, diagnosis, treatment principles.

scholarly journals Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy

2021 ◽  
Vol 11 (3) ◽  
pp. 12-36
Author(s):  
S. S. Nikitin ◽  
S. N. Bardakov ◽  
N. A. Suponeva ◽  
I. V. Zhirov ◽  
T. A. Adyan ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Diagnostic Algorithm ◽  
Diagnostic Features ◽  
International Consensus ◽  
Transthyretin Amyloidosis ◽  
Genetic Characteristics ◽  
Attr Amyloidosis ◽  
Initial Symptoms ◽  
The Russian Federation

Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic progressive fatal disease, for which a modifying therapy has recently been proposed that delays the progression of the disease and improves the patient’s quality of life. The delay in the diagnosis of ATTR-amyloidosis is associated with the heterogeneity of the manifestations of the disease, as well as insufficient awareness of doctors of different specialties about the disease. A review of recent studies on the symptomatology, diagnosis, molecular genetic characteristics of ATTR-amyloidosis and the most common forms of the disease with the predominant involvement of peripheral nerves and the heart, as well as the kidneys, gastrointestinal tract, and eyes is presented. The international consensus recommendations for the diagnosis of suspected ATTR-amyloidosis using modern methods that facilitate early and accurate diagnosis are discussed. The reasons and the most frequent misdiagnoses of ATTR-amyloidosis, which also lead to a delay in the timely appointment of therapy, are considered. Molecular genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy and cardiomyopathy. A diagnostic algorithm based on the initial symptoms and manifestations of the cardiovascular and nervous systems facilitates the identification of a patient with clinical suspicion of ATTR-amyloidosis by the general practitioner. Early diagnosis is critically important for patients with ATTR polyneuropathy, since the early prescription of Vindakel (tafamidis), registered in the Russian Federation in 2017, allows a significant clinical effect to be obtained. Timely administration of Vindakel significantly slows down the progression of the disease, improves the prognosis and quali  ty of life in patients with ATTR polyneuropathy.

scholarly journals NLRP3 Inflammasome-Mediated Inflammation in Acute Pancreatitis

2020 ◽  
Vol 21 (15) ◽  
pp. 5386 ◽  
Author(s):  
Ana Ferrero-Andrés ◽  
Arnau Panisello-Roselló ◽  
Joan Roselló-Catafau ◽  
Emma Folch-Puy
Keyword(s):  
Acute Pancreatitis ◽  
Nlrp3 Inflammasome ◽  
Inflammatory Diseases ◽  
Interleukin 1 ◽  
Pancreatic Injury ◽  
Inflammasome Activation ◽  
Inflammatory Disorder ◽  
Pyrin Domain ◽  
Current State ◽  
Nlrp3 Inflammasome Activation

The discovery of inflammasomes has enriched our knowledge in the pathogenesis of multiple inflammatory diseases. The NLR pyrin domain-containing protein 3 (NLRP3) has emerged as the most versatile and well-characterized inflammasome, consisting of an intracellular multi-protein complex that acts as a central driver of inflammation. Its activation depends on a tightly regulated two-step process, which includes a wide variety of unrelated stimuli. It is therefore not surprising that the specific regulatory mechanisms of NLRP3 inflammasome activation remain unclear. Inflammasome-mediated inflammation has become increasingly important in acute pancreatitis, an inflammatory disorder of the pancreas that is one of the fatal diseases of the gastrointestinal tract. This review presents an update on the progress of research into the contribution of the NLRP3 inflammasome to acute pancreatic injury, examining the mechanisms of NLRP3 activation by multiple signaling events, the downstream interleukin 1 family of cytokines involved and the current state of the literature on NLRP3 inflammasome-specific inhibitors.

The State of Undergraduate Rehabilitation Education: Current Program Coordinator Perspectives

2018 ◽  
Vol 32 (4) ◽  
pp. 253-261 ◽  
Author(s):  
Gina Oswald ◽  
Garrett Huck ◽  
J. Chad Duncan
Keyword(s):  
Quality Of Life ◽  
Future Research ◽  
Research Directions ◽  
Program Coordinator ◽  
Program Coordinators ◽  
Current State ◽  
Current Program ◽  
Future Research Directions ◽  
Satisfactory Quality

PurposeThe current climate of higher education, the implementation of the Workforce Opportunity and Innovation Act, and the 2017 merger of accrediting bodies have created changes within the field of rehabilitation. These changes must be appropriately addressed in order to fortify a profession that has long been instrumental in ensuring that individuals with disabilities are able to achieve a satisfactory quality of life.MethodsThis study was designed to provide current undergraduate rehabilitation education (URE) information to the field for discussion and planning purposes.ResultsThis research represents the results of a survey of URE program coordinators (n = 26) on the current state of their programs and programmatic needs.ConclusionRecommendations for current URE programs and future research directions are provided.

scholarly journals Patient Reported Outcomes in Chronic Inflammatory Diseases: Current State, Limitations and Perspectives

2021 ◽  
Vol 12 ◽  
Author(s):  
Florian Tran ◽  
Jan Henrik Schirmer ◽  
Ilka Ratjen ◽  
Wolfgang Lieb ◽  
Philip Helliwell ◽  
...  
Keyword(s):  
Patient Reported Outcomes ◽  
Unmet Needs ◽  
Clinical Symptoms ◽  
Inflammatory Diseases ◽  
Disease Course ◽  
Chronic Inflammatory Diseases ◽  
Current State ◽  
Patient Reported ◽  
Inflammatory Burden

Chronic inflammatory diseases (CID) are emerging disorders which do not only affect specific organs with respective clinical symptoms but can also affect various aspects of life, such as emotional distress, anxiety, fatigue and quality of life. These facets of chronic disease are often not recognized in the therapy of CID patients. Furthermore, the symptoms and patient-reported outcomes often do not correlate well with the actual inflammatory burden. The discrepancy between patient-reported symptoms and objectively assessed disease activity can indeed be instructive for the treating physician to draw an integrative picture of an individual’s disease course. This poses a challenge for the design of novel, more comprehensive disease assessments. In this mini-review, we report on the currently available patient-reported outcomes, the unmet needs in the field of chronic inflammatory diseases and the challenges of addressing these.

scholarly journals SCIENTIFIC AND METHODOLOGICAL SUPPORT FOR DEVELOPMENT OF PATHOGENIC MICROORGANISM COLLECTION OF VOLGOGRAD RESEARCH INSTITUTE FOR PLAGUE CONTROL

2019 ◽  
Vol 1 (3) ◽  
pp. 117-126
Author(s):  
E. V. Molchanova ◽  
N. P. Ageeva
Keyword(s):  
Molecular Genetic ◽  
Pathogenic Microorganisms ◽  
Pathogenic Microorganism ◽  
Genetic Characteristics ◽  
Current State ◽  
Modern Methods ◽  
Research Institute

The review reflects the current state of the working in collection and presents the directions of its improvement within the framework of the carried out certification of the collection of pathogenic Burkholderia spp. of Volgograd Research Institute for Plague Control. The ways of modernization of existing methods of conservation, optimization of modern methods of phenotypic and molecular-genetic characteristics of strains of pathogenic microorganisms are considered, and an information cataloging system with the formation of a universal database is proposed.

scholarly journals Repositioning of Tak-475 In Mevalonate Kinase Disease: Translating Theory Into Practice

2018 ◽  
Vol 25 (24) ◽  
pp. 2783-2796 ◽  
Author(s):  
Annalisa Marcuzzi ◽  
Claudia Loganes ◽  
Claudio Celeghini ◽  
Giulio Kleiner
Keyword(s):  
Mevalonate Pathway ◽  
Clinical Symptoms ◽  
Inflammatory Diseases ◽  
Interleukin 1 ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Similar Action ◽  
Cellular Models ◽  
Inflammatory Stimuli

Background: Mevalonate Kinase Deficiency (MKD, OMIM #610377) is a rare autosomal recessive metabolic and inflammatory disease. In MKD, defective function of the enzyme mevalonate kinase, due to a mutation in the MVK gene, leads to the shortage of mevalonate- derived intermediates, which results in unbalanced prenylation of proteins and altered metabolism of sterols. These defects lead to a complex multisystem inflammatory and metabolic syndrome. <p> Objective: Although biologic therapies aimed at blocking the inflammatory cytokine interleukin- 1 can significantly reduce inflammation, they cannot completely control the clinical symptoms that affect the nervous system. For this reason, MKD can still be considered an orphan drug disease. The availability of MKD models reproducing the MKD-systematic inflammation, is crucial to improve the knowledge on its pathogenesis, which is still unknown. New therapies are also required in order to improve pateints’ conditions and their quality of life. <p> Methods: MKD-cellular models can be obtained by biochemical inhibition of mevalonatederived isoprenoids. Of note, these cells present an exaggerated response to inflammatory stimuli that can be reduced by treatment with zaragozic acid, an inhibitor of squalene synthase, thus increasing the availability of isoprenoids intermediates upstream the enzymatic block. <p> Results: A similar action might be obtained by lapaquistat acetate (TAK-475, Takeda), a drug that underwent extensive clinical trials as a cholesterol lowering agent 10 years ago, with a good safety profile. <p> Conclusions: Here we describe the preclinical evidence supporting the possible repositioning of TAK-475 from its originally intended use to the treatment of MKD and discuss its potential to modulate the mevalonate pathway in inflammatory diseases.

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

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