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

2019 ◽  
Vol 15 (3) ◽  
pp. 349-358 ◽  
Author(s):  
V. V. Rameev ◽  
R. P. Myasnikov ◽  
P. P. Vinogradov ◽  
L. V. Kozlovskaya ◽  
S. V. Moiseev ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Organ Damage ◽  
Al Amyloidosis ◽  
Hemodynamic Changes ◽  
Attr Amyloidosis ◽  
Different Types ◽  
Diagnostic Difficulties ◽  
Methods Of Treatment ◽  
Russian Patient ◽  
Inflammatory Component

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.

scholarly journals Overview of systemic and localized amyloidosis

2013 ◽  
Vol 4 (4) ◽  
pp. 231-247 ◽  
Author(s):  
Saulius Girnius
Keyword(s):  
Protein Misfolding ◽  
Clinical Manifestations ◽  
Organ Damage ◽  
Precursor Protein ◽  
Al Amyloidosis ◽  
Folding Intermediates ◽  
Amyloid A ◽  
Localized Amyloidosis ◽  
Amyloid Deposits ◽  
Cell Transplants

Amyloidosis is a family of protein misfolding disorders, in which insoluble fibrillar proteins deposit extracellularly and cause end organ damage. Depending on the precursor protein, clinical manifestations in amyloidosis vary significantly. In systemic amyloidosis, the heart, kidneys, and nerves are most commonly affected, resulting in congestive heart failure, arrhythmia, nephrotic syndrome, renal failure, and peripheral and autonomic neuropathies. In localized amyloidosis, amyloid deposits at the site of production, so only one organ is disrupted. Once amyloidosis is confirmed histologically, the precursor subtype must be identified using immunohistochemistry, immunofixation, electron microscopy, or laser microdissection and mass spectrometry. Treatment should not be initiated prior to the identification of the type of amyloidosis. Currently, treatment focuses on the suppression of the precursor protein: in AL amyloidosis, chemotherapy or autologous stem cell transplants suppress production of immunoglobulin light chains; in AA amyloidosis, anti-microbial and anti-inflammatory agents suppress amyloid A production; and in AF amyloidosis, a liver transplantation removes the source of mutant transthyretin protein production. Newer drugs are being developed to target amyloidosis at an epigenetic level or stabilize folding intermediates, but there are currently in development.

scholarly journals Nuclear Imaging for the Diagnosis of Cardiac Amyloidosis in 2021

Diagnostics ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 996
Author(s):  
Weijia Li ◽  
Dipan Uppal ◽  
Yu-Chiang Wang ◽  
Xiaobo Xu ◽  
Damianos G. Kokkinidis ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Disease Burden ◽  
Nuclear Imaging ◽  
Al Amyloidosis ◽  
Attr Amyloidosis ◽  
Imaging Protocols ◽  
Positron Emission ◽  
Protein Fibrils ◽  
Different Types ◽  
Prediction Of Prognosis

Cardiac amyloidosis is caused by the deposition of misfolded protein fibrils into the extracellular space of the heart. The diagnosis of cardiac amyloidosis remains challenging because of the heterogeneous manifestations of the disease. There are many different types of amyloidosis with light-chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis being the most common types of cardiac amyloidosis. Endomyocardial biopsy is considered the gold standard for diagnosing cardiac amyloidosis and differentiating amyloid subtypes, but its use is limited because of the invasive nature of the procedure, with risks for complications and the need for specialized training and centers to perform the procedure. Radionuclide cardiac imaging has recently become the most commonly performed test for the diagnosis of ATTR amyloidosis but is of limited value for the diagnosis of AL amyloidosis. Positron emission tomography has been increasingly used for the diagnosis of cardiac amyloidosis and its applications are expected to expand in the future. Imaging protocols are under refinement to achieve better quantification of the disease burden and prediction of prognosis.

Modern methods of treating rosacea

2019 ◽  
Vol 1 (7) ◽  
pp. 65-71
Author(s):  
O. A. Egorova ◽  
K. A. Novikov
Keyword(s):  
Clinical Manifestations ◽  
Treatment Method ◽  
Current Data ◽  
Trigger Factors ◽  
Laser Technology ◽  
Individual Approach ◽  
Modern Methods ◽  
Methods Of Treatment ◽  
Choice Of Therapy

Presented current data on the etiology of rosacea, the main aspects of pathogenesis, clinical forms of the disease. Reflects trigger factors leading to rosacea, as well as complicating its course. Modern methods of treatment are described, including the use of new safe preparations of ivermectin and brimonidine, providing a good, lasting effect of clinical manifestations of rosacea. The role of laser technology, actively occupying a leading place in the choice of physiotherapeutic treatment method, is noted. The need for an individual approach in the choice of therapy for each patient with rosacea is emphasized.

scholarly journals Gastric amyloidosis presenting as acute upper gastrointestinal bleeding: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Rachael Chan ◽  
Stephanie Carpentier
Keyword(s):  
Multiple Myeloma ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Left Gastric Artery ◽  
Bleeding Complications ◽  
Al Amyloidosis ◽  
Gi Bleeding ◽  
Reduced Ejection Fraction ◽  
Repeat Endoscopy ◽  
Tertiary Center

Abstract Background Amyloidosis is characterized by extracellular tissue deposition of fibrils, composed of insoluble low-molecular-weight protein subunits. The type, location, and extent of fibril deposition generates variable clinical manifestations. Gastrointestinal (GI) bleeding due to amyloid deposition is infrequent. Previous literature describes upper GI bleeding (UGIB) in patients with known amyloid disease. Here, we describe a case of recurrent UGIB that ultimately led to a diagnosis of GI amyloidosis and multiple myeloma in a patient with no history of either. Case presentation A 76-year-old male presented to the emergency department with frank hematemesis, melena, and a decreased level of consciousness. Management required intensive care unit (ICU) admission with transfusion, intubation, and hemodynamic support. Upper endoscopy revealed gastritis with erosions and nodularity in the gastric cardia and antrum. Hemostasis of a suspected bleeding fundic varix could not be achieved. Subsequently, the patient underwent computerized tomography (CT) angiography and an interventional radiologist completed embolization of the left gastric artery to address potentially life-threatening bleeding. Complications included development of bilateral pleural effusions and subsegmental pulmonary emboli. Pleural fluid was negative for malignancy. He was transferred to a peripheral hospital for continued care and rehabilitation. Unfortunately, he began re-bleeding and was transferred back to our tertiary center, requiring re-admission to the ICU and repeat endoscopy. Repeat biopsy of the gastric cardial nodularity was reported as active chronic gastritis and ulceration. However, based on the unusual endoscopic appearance, clinical suspicion for malignancy remained high. He exhibited symptoms of congestive heart failure following standard resuscitation. Transthoracic echocardiogram (TTE) demonstrated a reduced ejection fraction of 35–40% and a strain pattern with apical sparing. Following discussions between the treating gastroenterologist, consulting cardiologist, and pathologist, Congo Red staining was performed, revealing submucosal amyloid deposits. Hematology was consulted and investigations led to diagnosis of multiple myeloma (MM) and immunoglobulin light-chain (AL) amyloidosis. The patient was treated for MM for four months prior to cessation of therapy due to functional and cognitive decline. Conclusions GI amyloidosis can present with various non-specific clinical symptoms and endoscopic findings, rendering diagnosis a challenge. This case illustrates GI amyloidosis as a potential—albeit rare—etiology of UGIB.

scholarly journals The Role of JAK/STAT Molecular Pathway in Vascular Remodeling Associated with Pulmonary Hypertension

2021 ◽  
Vol 22 (9) ◽  
pp. 4980
Author(s):  
Inés Roger ◽  
Javier Milara ◽  
Paula Montero ◽  
Julio Cortijo
Keyword(s):  
Pulmonary Hypertension ◽  
Smooth Muscle ◽  
Pulmonary Artery ◽  
Vascular Remodeling ◽  
Pulmonary Arteries ◽  
Clinical Manifestations ◽  
Different Types ◽  
Artery Remodeling ◽  
Stat Pathway ◽  
Pulmonary Artery Remodeling

Pulmonary hypertension is defined as a group of diseases characterized by a progressive increase in pulmonary vascular resistance (PVR), which leads to right ventricular failure and premature death. There are multiple clinical manifestations that can be grouped into five different types. Pulmonary artery remodeling is a common feature in pulmonary hypertension (PH) characterized by endothelial dysfunction and smooth muscle pulmonary artery cell proliferation. The current treatments for PH are limited to vasodilatory agents that do not stop the progression of the disease. Therefore, there is a need for new agents that inhibit pulmonary artery remodeling targeting the main genetic, molecular, and cellular processes involved in PH. Chronic inflammation contributes to pulmonary artery remodeling and PH, among other vascular disorders, and many inflammatory mediators signal through the JAK/STAT pathway. Recent evidence indicates that the JAK/STAT pathway is overactivated in the pulmonary arteries of patients with PH of different types. In addition, different profibrotic cytokines such as IL-6, IL-13, and IL-11 and growth factors such as PDGF, VEGF, and TGFβ1 are activators of the JAK/STAT pathway and inducers of pulmonary remodeling, thus participating in the development of PH. The understanding of the participation and modulation of the JAK/STAT pathway in PH could be an attractive strategy for developing future treatments. There have been no studies to date focused on the JAK/STAT pathway and PH. In this review, we focus on the analysis of the expression and distribution of different JAK/STAT isoforms in the pulmonary arteries of patients with different types of PH. Furthermore, molecular canonical and noncanonical JAK/STAT pathway transactivation will be discussed in the context of vascular remodeling and PH. The consequences of JAK/STAT activation for endothelial cells and pulmonary artery smooth muscle cells’ proliferation, migration, senescence, and transformation into mesenchymal/myofibroblast cells will be described and discussed, together with different promising drugs targeting the JAK/STAT pathway in vitro and in vivo.

scholarly journals Current concepts in the diagnosis and management of antiphospholipid syndrome and ocular manifestations

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gunay Uludag ◽  
Neil Onghanseng ◽  
Anh N. T. Tran ◽  
Muhammad Hassan ◽  
Muhammad Sohail Halim ◽  
...  
Keyword(s):  
Antiphospholipid Syndrome ◽  
Antiphospholipid Antibodies ◽  
Clinical Manifestations ◽  
Autoimmune Disorder ◽  
Ocular Involvement ◽  
Ocular Manifestations ◽  
Different Types ◽  
Thrombotic Complications ◽  
Specific Factors ◽  
Arteries And Veins

AbstractAntiphospholipid syndrome (APS) is an autoimmune disorder associated with obstetrical complications, thrombotic complications involving both arteries and veins, and non-thrombotic manifestations affecting multiple other systems presenting in various clinical forms. Diagnosis requires the presence of antiphospholipid antibodies. The exact pathogenesis of APS is not fully known. However, it has recently been shown that activation of different types of cells by antiphospholipid antibodies plays an important role in thrombosis formation. Ocular involvement is one of the important clinical manifestations of APS and can vary in presentations. Therefore, as an ophthalmologist, it is crucial to be familiar with the ocular findings of APS to prevent further complications that can develop. Furthermore, the ongoing identification of new and specific factors contributing to the pathogenesis of APS may provide new therapeutic options in the management of the disease in the future.

Role of antioxidant therapy in patients with moderate and severe COVID-19

2021 ◽  
Vol 19 (1) ◽  
pp. 159-164
Author(s):  
E.K. Shavarova ◽  
◽  
E.R. Cazakhmedov ◽  
M.V. Alekseeva ◽  
L.G. Ezhova ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Intervention Group ◽  
Clinical Manifestations ◽  
Organ Damage ◽  
Control Group ◽  
Reactive Protein ◽  
Virus Rna ◽  
Active Intervention Group ◽  
Group 2 ◽  
Novel Coronavirus

The coronavirus disease COVID-19 is characterized by high mortality and the lack of effective etiotropic therapy. Activation of oxidative stress may be one of the links in the pathogenesis of organ damage of this infection. Objective. To assess the ability of Mexidol® to influence the rate of clinical improvement in pneumonia caused by the SARSCoV-2 virus in hospitalized patients with the novel coronavirus disease COVID-19 and concomitant discirculatory encephalopathy. 62 patients over the age of 18 years with confirmed new coronavirus disease COVID-19 according to computed tomography (CT) of the lungs (stages CT1, CT2, CT3) and PCR of a swab from the nasopharynx and oropharynx for SARS-CoV-2 virus RNA were included. After randomization patients of group 1 received an infusion of Mexidol® at a dose of 1000 mg/day, patients of group 2 – an infusion of isotonic sodium chloride solution for 7 days. Compared with the control group, the patients receiving Mexidol® therapy showed a significantly more pronounced decrease in body temperature, a tendency towards a decrease in the severity of shortness of breath. In the Mexidol® group, the concentration of superoxidedismutase did not change, while in the control group there was a tendency to its decrease, C-reactive protein decreased 2.2 times more than in the control group (p = 0.09). There was a tendency for a more rapid decrease in ferritin in the active intervention group. Mexidol® therapy can have a positive effect on the clinical manifestations and severity of laboratory-inflammatory syndrome in patients with the new coronavirus disease COVID-19. Key words: coronavirus disease COVID-19, oxidative stress, Mexidol

scholarly journals Diagnostic difficulties and features of endovideosurgical treatment of a patient with mucocele of the appendix

2020 ◽  
Vol 12 (2) ◽  
pp. 85-90
Author(s):  
Badri V. Sigua ◽  
Vyacheslav P. Zemlyanoy ◽  
Elguja L. Lataria ◽  
Alexey A. Kurkov ◽  
Vyacheslav A. Melnikov ◽  
...  
Keyword(s):  
Benign Tumor ◽  
Abdominal Cavity ◽  
Clinical Manifestations ◽  
Vermiform Appendix ◽  
Diagnostic Methods ◽  
Number Of Patients ◽  
Mucocele Of The Appendix ◽  
Diagnostic Difficulties ◽  
Life Threatening ◽  
The Right

The mucocele of the appendix is the expansion of the appendix with the accumulation of a large amount of mucus. The mechanism and causes of mucocele are not fully understood. According to some authors, such changes in the appendix can occur due to cicatricial narrowing of the lumen of the appendix, compression or blockage of its base. Other authors believe that the mucocele of the appendix is a benign tumor that develops from the remnants of primitive mesenchyme and is sometimes prone to malignancy. Clinical manifestations of mucocele of the appendix are nonspecific. In a number of patients, this disease causes pain in the right abdomen, more often pulling, intermittent. However, the disease is often asymptomatic. In this regard, diagnosis is established only during performing an operation, most often, regarding acute appendicitis. Nevertheless, instrumental diagnostic methods such as ultrasound and computed tomography of the abdominal and pelvic organs make it possible to suspect mucocele. Despite the frequent asymptomatic, non-aggressive course, a number of life-threatening complications can become the outcome of the mucocele of the vermiform appendix. The most formidable complication is the rupture of the appendix with mucus entering free abdominal cavity, followed by the development of peritoneal pseudomyxoma due to implantation of mucus-forming cells. The only option for radical treatment of the mucocele of the appendix is a surgical intervention. A presented clinical case demonstrates the difficulties of diagnosis, as well as the features of surgical treatment of a patient with a mucocele of the appendix.

scholarly journals Clinical and bioimpedance features of manifestations of chronic non-bacterial prostatitis with an inflammatory component in young men

2021 ◽  
Vol 22 (1) ◽  
pp. 38-42
Author(s):  
Yu. Vinnik ◽  
А. V. Kuzmenko ◽  
А. А. Amelchenko
Keyword(s):  
Chronic Prostatitis ◽  
Clinical Manifestations ◽  
Extracellular Fluid ◽  
Young Men ◽  
Component Composition ◽  
The Body ◽  
Pathogenetic Mechanisms ◽  
Bacterial Prostatitis ◽  
Comprehensive Survey ◽  
Inflammatory Component

Introduction. Chronic prostatitis is the most common androurological disease affecting mainly young and middle-aged men. The variety of pathogenetic mechanisms and clinical manifestations, the tendency to recurrence necessitate the search for new methods of examination and monitoring of this disease. This can be facilitated by the study of bioimpedance parameters in patients with chronic prostatitis.Purpose of the study. To identify bioimpedance and clinical features of the manifestations of chronic non-bacterial prostatitis with an inflammatory component (CNPIC) in young men.Materials and methods. In the period from 2018 to 2020, on the basis of Krasnoyarsk Interdistrict Clinical Hospital No 4, a comprehensive survey of 80 men with CNPIC of the first period of adulthood from 22 to 35 years was conducted using valid questionnaires. Bioimpedansometry was carried out using a complex KM-AR-01, grade “DIAMANT-AIST mini”.Results. Pain predominates in the clinical picture of CNPIC, dysuric disorders are less pronounced. The examined men had pronounced deviations of the component composition of the body due to an increase in fat mass and extracellular fluid volume, which, due to common pathogenetic mechanisms, can support chronic inflammation and influence treatment outcomes.Conclusion. Bioimpedansometry can be a promising method in complex diagnostics and subsequent objective monitoring of the course of CNPIC.

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