scholarly journals Primary systemic amyloidosis

2007 ◽  
Vol 64 (12) ◽  
pp. 859-862
Author(s):  
Srdjan Tanasilovic ◽  
Dubravka Zivanovic ◽  
Milos Nikolic ◽  
Maja Tomovic ◽  
Ivo Elezovic ◽  
...  
Keyword(s):  
Heart Failure ◽  
Histopathological Examination ◽  
Skin Lesions ◽  
The Body ◽  
Systemic Amyloidosis ◽  
Light Chains ◽  
Immunoglobulin Light Chains ◽  
Disease Case ◽  
Cardiac Evaluation ◽  
Urine And Serum

Background. Systemic amyloidosis is a rare disorder which usually occurs in aged persons and has a poor prognosis. Systemic amyloidosis can be primary, occasionally associated with multiple myeloma, or secondary, associated with another disease. Case report. We presented a 72-year-old male patient with periocular purpura ("racoon sign") and waxy papules, petechiae and ecchymoses on the neck and thoracic area. Purpuric macules were present also on the lips and tongue which was edematous (macroglossia). The skin lesions occurred two years earlier, the patient lost more than 15 kilograms of the body mass for less than a year. Immunoelectrophoresis of urine and serum demonstrated the presence of immunoglobulin light chains of the circulating monoclonal protein. Histopathological examination of skin lesions showed Congo red positive deposits in the derm. Cardiac evaluation revealed the signs of heart failure, and renal evaluation revealed nephrotic syndrome, with excessive protein lost. He was treated with oral melphalan and prednisolone, and died 7 days after starting the therapy due to heart failure. Conclusion. This patient considered as a rare case with systemic amyloidosis highlights the importance of histopathological and physical examination in any cases with periocular purpura, petechiae, ecchymoses and macroglossia.

How I treat amyloidosis

Blood ◽  
2009 ◽  
Vol 114 (15) ◽  
pp. 3147-3157 ◽  
Author(s):  
Raymond L. Comenzo
Keyword(s):  
Heart Failure ◽  
Monoclonal Gammopathy ◽  
Light Chains ◽  
Immunoglobulin Light Chains ◽  
Wild Type ◽  
Multisystem Disease ◽  
Laboratory Findings ◽  
Tissue Typing ◽  
Gene Testing

AbstractAmyloidosis is an uncommon disorder in which proteins change conformation, aggregate, and form fibrils that infiltrate tissues, leading to organ failure and death. The most frequent types are light-chain (AL) derived from monoclonal B-cell disorders producing amyloidogenic immunoglobulin light chains, and the hereditary and “senile systemic” (ATTR) variants from mutant and wild-type transthyretin (TTR). Diagnosis requires tissue biopsy. AL is more frequent and causes more organ disease than ATTR. Although both can cause cardiomyopathy and heart failure, AL progresses more quickly, so survival depends on timely diagnosis. Typing is usually based on clinical and laboratory findings with monoclonal gammopathy evaluation and, if indicated, TTR gene testing. Direct tissue typing is required when one patient has 2 potential amyloid-forming proteins. In coming years, widespread use of definitive proteomics will improve typing. New therapies are in testing for ATTR, whereas those for AL have followed multiple myeloma, leading to improved survival. Challenges of diagnosing and caring for patients with amyloidosis include determination of type, counseling, and delivery of prompt therapy often while managing multisystem disease. Recent advances grew from clinical research and advocacy in many countries, and global husbandry of such efforts will reap future benefits for families and patients with amyloidosis.

scholarly journals Primary Systemic Amyloidosis: a Case Report and Review of Clinical Features

2020 ◽  
Vol 9 (2) ◽  
Author(s):  
Hu HQ ◽  
Wang SC ◽  
Cao X ◽  
Cao BZ
Keyword(s):  
Heart Failure ◽  
Weight Loss ◽  
Nephrotic Syndrome ◽  
Peripheral Neuropathy ◽  
Sural Nerve ◽  
Histopathological Examination ◽  
Clinical Signs ◽  
Pericardial Fluid ◽  
Systemic Amyloidosis ◽  
Symptoms And Signs

Primary systemic amyloidosis is a rare disorder that has multisystemic manifestations. The diagnosis is very difficult because of non-specific clinical signs. We report a patient with primary systemic amyloidosis manifesting as peripheral neuropathy, nephrotic syndrome, gastrointestinal syndrome, orthostatic hypotension, pericardial fluid, weight loss and so on. Histopathological examination of kidney and sural nerve showed Congo red positive deposits. Primary systemic amyloidosis should be considered in any patient older than 40 years who has the following symptoms and signs: fatigue, weight loss, edema, paresthesias, muscle weakness, noninfectious diarrhea, skin and soft-tissue lesions, and the complications of nephrotic syndrome, congestive heart failure (not on an ischemic basis), peripheral neuropathy, or unexplained hepatomegaly. All patients need the diagnosis confirmed histologically by biopsy of an involved organ.

scholarly journals Laryngeal amyloidosis: a case report

2020 ◽  
Vol 6 (7) ◽  
pp. 1357
Author(s):  
Jameel N. Alswaiheb ◽  
Mohammed A. Motiwala ◽  
Abdulmalik Alkhodair ◽  
Abdulrahman Aljadoa ◽  
Ghada Alhindi ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Surgical Excision ◽  
Lateral View ◽  
The Body ◽  
Systemic Amyloidosis ◽  
Laryngeal Amyloidosis ◽  
Laryngeal Tumors ◽  
Long Term Follow Up

<p class="abstract">Amyloidosis is a rare, benign, slowly progressive disease characterized by extracellular accumulation of<strong> </strong>amyloid in different tissues of the body. It accounts for 0.2-1.2% of benign laryngeal tumors and usually presents as an isolated localized laryngeal amyloidosis, but can also be part of systemic amyloidosis. A 26 years old female with history of gradually developing, persistent hoarseness, and progressive<strong> </strong>dyspnea since 1 year, worsened over the past three days. Outpatient Department based endoscopy showed bilateral mobile, thickened vocal cords with subglottic edematous thickness. Computed tomography scan showed symmetrical thickening of bilateral vocal cord, causing glottic narrowing about 70% on the AP view and about 50% on the lateral view and no cartilage invasion or lymphadenopathy. Microlaryngoscopy and biopsy of the specimen were performed and histopathology confirmed the diagnosis of amyloidosis with Congo red stain. Patient was managed by surgical excision of the mass and long term follow-up. To rule out systemic amyloidosis patient is referred to rheumatology clinic and hematology clinic for further evaluation and management. Histopathological examination of the involved tissue confirms the diagnosis, and long term follow up is mandatory in the management of amyloidosis.</p>

scholarly journals The Rare Case of Pemphigus Vegetans in Association with Malnutrition Children in the Multidisciplinary Management

2017 ◽  
Vol 9 (1) ◽  
pp. 145-150
Author(s):  
Oki Suwarsa ◽  
Endang Sutedja ◽  
Hartati Purbo Dharmadji ◽  
Pramita Kusuma ◽  
July Rahardja ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Histopathological Examination ◽  
Pemphigus Vulgaris ◽  
Underlying Mechanism ◽  
Skin Lesions ◽  
The Body ◽  
Direct Immunofluorescence ◽  
Clear Fluid ◽  
Almost All ◽  
Pemphigus Vegetans

Pemphigus vegetans is a clinical variant of pemphigus vulgaris, accounting for 1–2% of all very rare pemphigus cases in children. The involvement of the oral mucosa in this disease is usually accompanied by severe pain that aggravates the patient’s malnourished condition. Conversely, malnutrition may also reduce vulnerability towards autoimmune diseases. Although pemphigus vegetans has never been reported to develop in a child with marasmus before, we encountered a case of pemphigus vegetans in a severely malnourished patient. A 12-year-old boy in marasmic condition presented with painful, clear, fluid-filled blisters, accompanied by erosions, crusts, and vegetative lesions on almost all parts of the body. Histopathological examination of the lesions revealed a suprabasal cleft, and direct immunofluorescence staining showed deposits of immunoglobulin G in the epidermal intracellular spaces. The patient was treated with a multidisciplinary approach, and intravenous corticosteroid was administered for 2 weeks with an appropriate diet. There were significant improvements in the skin lesions and his nutritional status. Although pemphigus vegetans may occur in children with malnutrition, the underlying mechanism for the development of autoimmune diseases in malnutrition remains unclear.

A Rare Case of Spinal Leprosy Mimicking Spinal Tuberculosis

2019 ◽  
pp. 33
Author(s):  
K Thuraikumar ◽  
V Naveen ◽  
Mustaqim A ◽  
Arieff AA ◽  
K Shri ◽  
...  
Keyword(s):  
Back Pain ◽  
Soft Tissue ◽  
Histopathological Examination ◽  
Posterior Instrumentation ◽  
Spinal Tuberculosis ◽  
Previous History ◽  
Skin Lesions ◽  
Titanium Implants ◽  
Paravertebral Abscess ◽  
History Of

Introduction: Spinal tuberculosis is the most common manifestation of extrapulmonar y tuberculosis. A combination of leprosy and tuberculosis is a rare entity.Case report: A 44-year-old male patient working as a laborer presented to our hospital with complaints of severe back pain and swelling over the back, difficulty in walking, associated with constitutional symptoms. On admission, he was febrile and had leukocytosis. Initial spine X-ray showed end plate destruction and increase in soft tissue shadow at the level of T8-T9. CT spine revealed thoracic paravertebral collection extending from T7 to T9 levels, suggest ive of tuberculous spondylitis with cold abscess. Patient refused a transpedicular biopsy and was started on anti-tubercular therapy. Two weeks after commencement of treatment, he developed worsening back pain and weakness of the lower extremities. MRI spine showed a paravertebral abscess and posterior soft tissue edema involving level of T7 to T11. Patient underwent a posterior decompression, debridement and posterior instrumentation. He was discharged well, there was improvement of his lower limb power. Upon clinic review, he complained of multiple hyperpigmented, painless, nonpruritic skin lesions over the trunk and back. No previous history of eczema, psoriasis and Tinea corporis. Given the history of allergy, initial impression was hypersensitivity reaction towards the titanium implants, and he was started on anti-histamines. However, there was no improvements seen. Histopathological examination of skin lesions revealed presence of granuloma within the dermis layer, composed of epitheloid, histiocytes, lymphocytes and plasma cells. Wade-Fite stain for Mycobacterium leprae is positive. Slit skin smear shows multibacillary leprosy. Patient was started on multidrug therapy (rifampicin, clofazimine and dapsone) for 1 year. He has recovered well.International Journal of Human and Health Sciences Supplementary Issue: 2019 Page: 33

scholarly journals AB0463 ETIOLOGY OF PALPABLE PURPURA; A SINGLE CENTER EXPERIENCE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1530.1-1530
Author(s):  
G. Kaynar ◽  
O. C. İçaçan ◽  
S. Çelik ◽  
M. Yalçin Mutlu ◽  
C. Bes
Keyword(s):  
Drug Use ◽  
Histopathological Examination ◽  
Leukocytoclastic Vasculitis ◽  
Systemic Vasculitis ◽  
Skin Lesions ◽  
Serological Tests ◽  
Recent Infection ◽  
Important Place ◽  
Palpable Purpura ◽  
Underlying Diseases

Background:Purpura are lesions that occur after bleeding on the skin, mucous or serosal surfaces. Purpura can be classified into 2 subgroups; which are linked to thrombocytopenia and non-trombocytopenic purpura. While thrombocytopenic purpura often occurs due to a hematological disease; in non-trombocytopenic purpura etiological causes are very variable, and systemic vasculitis has an important place among them.Objectives:The demographic features of the patients applying with purpura and the underlying causes and diseases were aimed to be revealed.Methods:44 consecutive patients (22 women, 22 men) who were admitted to the hospital in the last 6 months, due to purpura were evaluated. Average age of patients was 49.6 ± 19.6 years. Patients were questioned about a recent infection, drug use, concomitant or underlying diseases. The serological tests and other laboratory tests for etiology were performed and biopsy was taken from the skin lesions which are appropriate.Results:While 4 (9%) patients had widespread purpura on the trunk-upper-lower extremities, in 22 (50%) patients purpuric lesions were limited only to the lower limb. The period between the onset of the first symptom and the admission to the hospital was longer than 4 weeks in 35 (79.5%) patients, and shorter than 1 week in 9 (20.5%) patients. 24 (54%) patients had an anamnesis of infection 2-3 weeks before purpura, and 20 (45%) patients had an anamnesis of drug use. The most common accompanying symptom was abdominal pain and was present in 15 (34%) patients. Biopsy was performed from the skin lesion in 37 patients. Histopathological examination of all was compatible with leukocytoclastic vasculitis. In indirect immunofluorescence staining, 17 were found to be IgA positive. 2 (4.5%) patients were diagnosed PR3-ANCA positive granulomatosis with polyangiitis. 1 patient had Hepatitis B virus infection was detected in 1 patient (2.2%), HIV infection was detected in 1 patient (2.2%) and malignancy was detected in 1 patient (2.2%).Conclusion:In our study, the most common reason was found as IgA vasculitis in patients presenting with palpable purpura. Although vasculitic involvement was limited to the skin in most patients, organ-threatening systemic vasculitis was detected in a few patients. Patients applying with Purpura should be questioned for infection and drug use, should be examined for underlying diseases including systemic vasculitis, and closely monitored for organ involvement.Disclosure of Interests:None declared

scholarly journals Direct measurement of vagal tone in rats does not show correlation to HRV

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Joseph T. Marmerstein ◽  
Grant A. McCallum ◽  
Dominique M. Durand
Keyword(s):  
Heart Failure ◽  
Heart Rate ◽  
Heart Rate Variability ◽  
Neural Activity ◽  
Vagal Tone ◽  
Neural Recording ◽  
The Body ◽  
Autonomic Nerve ◽  
Vagal Activity ◽  
Recording Technology

AbstractThe vagus nerve is the largest autonomic nerve, innervating nearly every organ in the body. “Vagal tone” is a clinical measure believed to indicate overall levels of vagal activity, but is measured indirectly through the heart rate variability (HRV). Abnormal HRV has been associated with many severe conditions such as diabetes, heart failure, and hypertension. However, vagal tone has never been directly measured, leading to disagreements in its interpretation and influencing the effectiveness of vagal therapies. Using custom carbon nanotube yarn electrodes, we were able to chronically record neural activity from the left cervical vagus in both anesthetized and non-anesthetized rats. Here we show that tonic vagal activity does not correlate with common HRV metrics with or without anesthesia. Although we found that average vagal activity is increased during inspiration compared to expiration, this respiratory-linked signal was not correlated with HRV either. These results represent a clear advance in neural recording technology but also point to the need for a re-interpretation of the link between HRV and “vagal tone”.

scholarly journals Rap1a Overlaps the AGE/RAGE Signaling Cascade to Alter Expression of α-SMA, p-NF-κB, and p-PKC-ζ in Cardiac Fibroblasts Isolated from Type 2 Diabetic Mice

Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 557
Author(s):  
Stephanie D. Burr ◽  
James A. Stewart
Keyword(s):  
Oxidative Stress ◽  
Heart Failure ◽  
Hydrogen Peroxide ◽  
Cardiac Fibroblasts ◽  
The Body ◽  
Signaling Cascade ◽  
Diabetic Mice ◽  
Pkc Ζ ◽  
Type 2 Diabetic

Cardiovascular disease, specifically heart failure, is a common complication for individuals with type 2 diabetes mellitus. Heart failure can arise with stiffening of the left ventricle, which can be caused by “active” cardiac fibroblasts (i.e., myofibroblasts) remodeling the extracellular matrix (ECM). Differentiation of fibroblasts to myofibroblasts has been demonstrated to be an outcome of AGE/RAGE signaling. Hyperglycemia causes advanced glycated end products (AGEs) to accumulate within the body, and this process is greatly accelerated under chronic diabetic conditions. AGEs can bind and activate their receptor (RAGE) to trigger multiple downstream outcomes, such as altering ECM remodeling, inflammation, and oxidative stress. Previously, our lab has identified a small GTPase, Rap1a, that possibly overlaps the AGE/RAGE signaling cascade to affect the downstream outcomes. Rap1a acts as a molecular switch connecting extracellular signals to intracellular responses. Therefore, we hypothesized that Rap1a crosses the AGE/RAGE cascade to alter the expression of AGE/RAGE associated signaling proteins in cardiac fibroblasts in type 2 diabetic mice. To delineate this cascade, we used genetically different cardiac fibroblasts from non-diabetic, diabetic, non-diabetic RAGE knockout, diabetic RAGE knockout, and Rap1a knockout mice and treated them with pharmacological modifiers (exogenous AGEs, EPAC, Rap1a siRNA, and pseudosubstrate PKC-ζ). We examined changes in expression of proteins implicated as markers for myofibroblasts (α-SMA) and inflammation/oxidative stress (NF-κB and SOD-1). In addition, oxidative stress was also assessed by measuring hydrogen peroxide concentration. Our results indicated that Rap1a connects to the AGE/RAGE cascade to promote and maintain α-SMA expression in cardiac fibroblasts. Moreover, Rap1a, in conjunction with activation of the AGE/RAGE cascade, increased NF-κB expression as well as hydrogen peroxide concentration, indicating a possible oxidative stress response. Additionally, knocking down Rap1a expression resulted in an increase in SOD-1 expression suggesting that Rap1a can affect oxidative stress markers independently of the AGE/RAGE signaling cascade. These results demonstrated that Rap1a contributes to the myofibroblast population within the heart via AGE/RAGE signaling as well as promotes possible oxidative stress. This study offers a new potential therapeutic target that could possibly reduce the risk for developing diabetic cardiovascular complications attributed to AGE/RAGE signaling.

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