Neurosarcoidosis: guidance for the general neurologist

Neurosarcoidosis (NS) more commonly occurs in the setting of systemic disease. The diagnosis is based on a clinical history suggestive of NS, presence of noncaseating granulomas, and supportive evidence of sarcoid pathology, laboratory, and imaging studies. NS could involve any part of the nervous system and often demands high doses of steroids for symptom control. It presents low response to isolated steroids administration and frequently requires immunosuppressive agents. In NS, lymphocytes are polarized toward an excessive Th1 response, leading to overproduction of TNF-alpha and INF-gama, as well as lL-2 and IL-15. Infliximab, a chimeric monoclonal antibody that neutralizes the biological activity of TNF-alpha, is a new option in the NS treatment. We revised pathophysiology, clinical manifestations, diagnostic work up, and treatment of NS as guidance for the general neurologist.

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Sarcoidosis

10.2310/im.1209 ◽

2020 ◽

Author(s):

Robert P Baughman ◽

Mary Beth Scholand

Keyword(s):

Cardiac Sarcoidosis ◽

Systemic Disease ◽

Clinical Manifestations ◽

Host Factors ◽

Resonance Imaging ◽

Noncaseating Granuloma ◽

Symptomatic Disease ◽

Contrast Enhanced ◽

Löfgren Syndrome ◽

Noncaseating Granulomas

Sarcoidosis is a systemic disease characterized by the presence of noncaseating granulomas, which accumulate in affected organs. The incidence, organ involvement, and disease severity depend on environmental exposures and host factors. The cause of sarcoidosis remains unknown. Any organ can be affected; however, involvement of the lung, heart, and nervous system contributes most to morbidity and mortality. This review discusses the epidemiology, etiology, genetics, pathogenesis, diagnosis (including clinical manifestations), differential diagnosis, management, complications, and prognosis of sarcoidosis. Figures depict the pathogenesis of sarcoidosis, radiographic stages of sarcoidosis, contrast-enhanced magnetic resonance imaging of a patient with neurosarcoidosis, noncaseating granuloma from a tissue biopsy of a patient with sarcoidosis, various manifestations of sarcoidosis, approach to the use of anti-inflammatory therapy for sarcoidosis, and an algorithm for symptomatic disease. This review contains 7 highly rendered figures, 7 tables, and 127 references Keywords: cardiac sarcoidosis, hilar lymphadenopathy, Löfgren syndrome, neurosarcoidosis, noncaseating granuloma, sarcoidosis, uveitis

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Sarcoidosis

10.2310/fm.1209 ◽

2020 ◽

Author(s):

Robert P Baughman ◽

Mary Beth Scholand

Keyword(s):

Cardiac Sarcoidosis ◽

Systemic Disease ◽

Clinical Manifestations ◽

Host Factors ◽

Resonance Imaging ◽

Noncaseating Granuloma ◽

Symptomatic Disease ◽

Contrast Enhanced ◽

Löfgren Syndrome ◽

Noncaseating Granulomas

Sarcoidosis is a systemic disease characterized by the presence of noncaseating granulomas, which accumulate in affected organs. The incidence, organ involvement, and disease severity depend on environmental exposures and host factors. The cause of sarcoidosis remains unknown. Any organ can be affected; however, involvement of the lung, heart, and nervous system contributes most to morbidity and mortality. This review discusses the epidemiology, etiology, genetics, pathogenesis, diagnosis (including clinical manifestations), differential diagnosis, management, complications, and prognosis of sarcoidosis. Figures depict the pathogenesis of sarcoidosis, radiographic stages of sarcoidosis, contrast-enhanced magnetic resonance imaging of a patient with neurosarcoidosis, noncaseating granuloma from a tissue biopsy of a patient with sarcoidosis, various manifestations of sarcoidosis, approach to the use of anti-inflammatory therapy for sarcoidosis, and an algorithm for symptomatic disease. This review contains 7 highly rendered figures, 3 tables, and 126 references Keywords: cardiac sarcoidosis, hilar lymphadenopathy, Löfgren syndrome, neurosarcoidosis, noncaseating granuloma, sarcoidosis, uveitis

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Oral Manifestations of Celiac Disease and Wheat Allergy: Report of Three Cases and Review of Literature

Odovtos - International Journal of Dental Sciences ◽

10.15517/ijds.v0i0.34399 ◽

2018 ◽

pp. 33-45

Author(s):

Yadira V. Boza Oreamuno DDS, MSc ◽

María F. Rugama Flores BSND

Keyword(s):

Celiac Disease ◽

Systemic Disease ◽

Clinical Manifestations ◽

Abdominal Distension ◽

Clinical History ◽

Recurrent Abdominal Pain ◽

Oral Manifestations ◽

Wheat Allergy ◽

Immune Mediated ◽

History Of

Celiac Disease (CD) is an immune-mediated systemic disease, caused by gluten and related prolamins, in genetically susceptible individuals. It is characterized by gluten-dependent clinical manifestations, CD-specific antibodies, HLA DQ2 or DQ8 haplotypes, and enteropathy. Most patients are asymptomatic or with mild manifestations. It mainly affects the gastrointestinal system causing symptoms and signs such as diarrhea, recurrent abdominal pain and abdominal distension; also extradigestive manifestations. Patients with CD may have oral manifestations that include recurrent aphthous stomatitis (RAS), enamel hypoplasia, atrophic glossitis, among others. The diagnosis of CD is based on clinical history, serology, endoscopy and histology. There are other entities that should be differentiated from CD, such as non-celiac gluten sensitivity and wheat allergy. The aim of this study is to present three patients with a history of RAS and other clinical manifestations associated with the early diagnosis of CD and food allergy.

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Case Report: Sarcoidosis with azygos vein enlargement mimicking metastatic cancer

F1000Research ◽

10.12688/f1000research.24041.1 ◽

2020 ◽

Vol 9 ◽

pp. 661

Author(s):

Abdallah Qasim ◽

Omar Kousa ◽

Mohamed Mansour ◽

Ahmad K. Aly ◽

Dana Awad ◽

...

Keyword(s):

Fungal Infections ◽

Case Reports ◽

Metastatic Cancer ◽

Systemic Disease ◽

Clinical Manifestations ◽

Azygos Vein ◽

Diagnostic Challenge ◽

Serious Infections ◽

Noncaseating Granulomas ◽

Rule Out

Sarcoidosis is a systemic disease with heterogeneous clinical manifestations that is characterized histologically by the presence of noncaseating granulomas in the affected organs. It can be a diagnostic challenge, especially when mimicking malignancy or fungal infections. Previous case reports of sarcoidosis presenting with multiple masses are highly suggestive of infectious or malignant etiology. In this case, our patient presented with enlarged lymph node and was found to have innumerable nodules in the mediastinum, lungs, and liver. Azygos vein enlargement was also seen on radiological imaging, and malignancy was highly suspected; hence, an extensive workup was conducted, including laboratory, radiology and biopsy evaluation, which were diagnostic of sarcoidosis. Our case showed the importance of correlation of the history, physical examination, radiological and histopathologic studies in confirming the diagnosis and the need to rule out other serious infections and malignancies, especially with azygous vein enlargement, which can sometimes be missed in chest radiograph.

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Oral and Maxillo-Facial Manifestations of Systemic Diseases: An Overview

Medicina ◽

10.3390/medicina57030271 ◽

2021 ◽

Vol 57 (3) ◽

pp. 271

Author(s):

Saverio Capodiferro ◽

Luisa Limongelli ◽

Gianfranco Favia

Keyword(s):

Early Diagnosis ◽

Oral Cavity ◽

Head And Neck ◽

Clinical Outcomes ◽

Systemic Disease ◽

Clinical Manifestations ◽

Systemic Diseases ◽

Special Issue ◽

Hard Tissues ◽

Current Special Issue

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors present an overview on the most frequent clinical manifestations at the oral and maxillo-facial district of systemic disease.

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The Main Challenges in Systemic Lupus Erythematosus: Where Do We Stand?

Journal of Clinical Medicine ◽

10.3390/jcm10020243 ◽

2021 ◽

Vol 10 (2) ◽

pp. 243

Author(s):

Matteo Piga ◽

Laurent Arnaud

Keyword(s):

Systemic Lupus Erythematosus ◽

Disease Activity ◽

Lupus Erythematosus ◽

Systemic Disease ◽

Unmet Need ◽

Clinical Manifestations ◽

New Drugs ◽

Systemic Lupus ◽

Major Step ◽

Damage Accrual

Systemic lupus erythematosus (SLE) is an immune-mediated multi-systemic disease characterized by a wide variability of clinical manifestations and a course frequently subject to unpredictable flares. Despite significant advances in the understanding of the pathophysiology and optimization of medical care, patients with SLE still have significant mortality and carry a risk of progressive organ damage accrual and reduced health-related quality of life. New tools allow earlier classification of SLE, whereas tailored early intervention and treatment strategies targeted to clinical remission or low disease activity could offer the opportunity to reduce damage, thus improving long-term outcomes. Nevertheless, the early diagnosis of SLE is still an unmet need for many patients. Further disentangling the SLE susceptibility and complex pathogenesis will allow to identify more accurate biomarkers and implement new ways to measure disease activity. This could represent a major step forward to find new trials modalities for developing new drugs, optimizing the use of currently available therapeutics and minimizing glucocorticoids. Preventing and treating comorbidities in SLE, improving the management of hard-to-treat manifestations including management of SLE during pregnancy are among the remaining major unmet needs. This review provides insights and a research agenda for the main challenges in SLE.

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Neuralgic amyotrophy: an underrecognized entity

Journal of International Medical Research ◽

10.1177/03000605211006542 ◽

2021 ◽

Vol 49 (4) ◽

pp. 030006052110065

Author(s):

Tae Uk Kim ◽

Min Cheol Chang

Keyword(s):

Clinical Practice ◽

Magnetic Resonance ◽

Clinical Manifestations ◽

Clinical History ◽

Cervical Radiculopathy ◽

Sudden Onset ◽

Clinical Findings ◽

Magnetic Resonance Neurography ◽

Essential Information ◽

Neuralgic Amyotrophy

Neuralgic amyotrophy (NA) is markedly underdiagnosed in clinical practice, and its actual incidence rate is about 1 per 1000 per year. In the current article, we provide an overview of essential information about NA, including the etiology, clinical manifestations, diagnostic investigations, differential diagnosis, treatment, and prognosis. The causes of NA are multifactorial and include immunological, mechanical, or genetic factors. Typical clinical findings are a sudden onset of pain in the shoulder region, followed by patchy flaccid paralysis of muscles in the shoulder and/or arm. A diagnosis of NA is based on a patient’s clinical history and physical examination. Gadolinium-enhanced magnetic resonance imaging and high-resolution magnetic resonance neurography are useful for confirming the diagnosis and choosing the appropriate treatment. However, before a diagnosis of NA is confirmed, other disorders with similar symptoms, such as cervical radiculopathy or rotator cuff tear, need to be ruled out. The prognosis of NA depends on the degree of axonal damage. In conclusion, many patients with motor weakness and pain are encountered in clinical practice, and some of these patients will exhibit NA. It is important that clinicians understand the key features of this disorder to avoid misdiagnosis.

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AB1045 CLINICAL, ANALYTICAL AND RADIOLOGICAL CHARACTERISTICS OF A COHORT OF PATIENTS WITH SARCOIDOSIS.

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.6414 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1814.2-1814

Author(s):

I. Madroñal García ◽

C. Aguilera Cros ◽

L. Mendez Diaz

Keyword(s):

Systemic Disease ◽

Immunosuppressive Treatment ◽

Clinical Manifestations ◽

Corticosteroid Treatment ◽

Pulmonary Involvement ◽

List Type ◽

Chi Square ◽

Course Of Disease ◽

Chronic Course ◽

Radiological Stage

Background:Sarcoidosis is a systemic disease whose etiology is unknown. It is characterized by the formation of granulomas in any tissue of the organism. Ganglionic, pulmonary and cutaneus involvement is the most prevalent.Objectives:Describe clinical characteristics of a cohort of patients with sarcoidosis diagnosed.Define the association between the ACE’s number at diagnosis, radiological lung stage, treatment and course of disease.Evaluate if the extrapulmonary involvement is related to the course of the disease.Methods:Descriptive retrospective study of patients with S diagnosis treated in our Hospital in 2019. Data were obtained by reviewing medical records. Chi-square tests and parametric tests have been used to establish the differences described in the objectives.Results:102 patients diagnosed with sarcoidosis have been included, (51% females) with an average age of 56±11 years. Suspected diagnosis at the onset of disease was S in 70.6% of patients, followed by suspected lymphoma (20.6%). The average time for the definitive diagnosis of S was 9.5 months. 70.6% of the patients had elevated ACE titles at the beginning. Regarding the clinical manifestations, 18.6% of the patients presented fever at the beginning and 66.7% extrathoracic clinical manifestations. 72.5% have lymph node adenopathies, and in 91% there is thoracic involvement (the most frequent pulmonary stage is stage II). A biopsy was performed in 84.3% of the patients, the lung biopsy being the most performed (52.3%). 88.2% of patients received corticosteroid treatment at the onset of the disease (currently under treatment with corticosteroids 37.3%). 50% of patients are treated with immunosuppressants, Methotrexate was the most used. 5 patients are treated with biological therapy (AntiTNF).Regarding the course of the disease, 51% of the patients have a chronic course, 45.1% are in remission and 3.9% have suffered a relapse of the disease. In this study, no significant relationship was found between the ACE values at the onset of the disease, the pulmonary stage and the course of the disease.According to our data, patients presenting with extrathoracic clinical manifestations need more frequently corticosteroid treatment (p = 0.017) and immunosuppressive treatment (p = 0.001) with respect to patients who do not have an extrathoracic clinic. In addition, patients with an extrathoracic clinic present more frequently a chronic course of the disease than those who do not (p = 0.019).Conclusion:The results described in this study are similar to those found in the literature. The differences found can be explained because patients presenting with extrathoracic clinical manifestations have a more complicated management and need more treatment than those with only pulmonary involvement, even patients with radiological stage I do not usually need treatment, only surveillance.Disclosure of Interests:None declared

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Preeclampsia Part 2: fisiopatologia e trattamento

Giornale di Clinica Nefrologica e Dialisi ◽

10.33393/gcnd.2019.521 ◽

2019 ◽

Vol 31 (2) ◽

pp. 79-88

Author(s):

Stefano Michelassi

Keyword(s):

High Risk ◽

Endothelial Dysfunction ◽

Preterm Delivery ◽

Systemic Inflammation ◽

Systemic Disease ◽

Clinical Manifestations ◽

Morbidity And Mortality ◽

Curative Treatment ◽

Maternal Risks ◽

New Onset

Preeclampsia is a pregnancy-specific disorder usually defined as new-onset hypertension and proteinuria after the 20th week of gestation. Preeclampsia is a systemic disease with multiorgan involvement, and it is associated with a high risk of maternal and fetal morbidity and mortality. To date its pathogenesis is not completely understood, but placental hypoxia or hypoxia/reoxigenation may be the basic condition leading to systemic inflammation and endothelial dysfunction that induce all the clinical manifestations of the disorder. Delivery is the only curative treatment. Indeed, for the management of preeclampsia one needs to consider both the maternal risks due to continued pregnancy and the fetal risks associated with induced preterm delivery.

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Clinical Characteristics of Multicentric Reticulohistiocytosis and Distinguished Features from Rheumatoid Arthritis: A Single-Centre Experience in China

10.21203/rs.3.rs-919271/v1 ◽

2021 ◽

Author(s):

Xiao-juan Zou ◽

Lin Qiao ◽

Feng Li ◽

Hua Chen ◽

Yun-jiao Yang ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Systemic Disease ◽

Clinical Manifestations ◽

Metacarpophalangeal Joint ◽

Skin Lesions ◽

Multicentric Reticulohistiocytosis ◽

Specific Distribution ◽

Pathologic Features ◽

Skin Nodules ◽

Distal Interphalangeal

Abstract ObjectiveTo investigate the clinical features of multicentric reticulohistiocytosis (MRH). MethodsThe clinical manifestations, laboratory examination results and histologic characteristics of eleven patients with MRH were collected and compared with those of 33 patients with rheumatoid arthritis. ResultsIn total, 72.7% of the MRH patients were women. The median age was 46 years (range: 33-84 years). Diagnosed by specific pathologic features, all MRH patients exhibited cutaneous involvement. The dorsa of the hands, arms, face and auricle were the most commonly affected areas. Nodules were also located on the legs, scalp, trunk, neck, and even the hypoglossis and buccal mucosa. Ten MRH patients (90.9%) had symmetric polyarthritis. Compared with rheumatoid arthritis (RA) patients, MRH patients were more likely to have distal interphalangeal joint (DIP) involvement (63.6% vs 24.2%, P=0.017) and less likely to have elbow (36.4% vs 72.7%, P=0.003), ankle (45.5% vs 93.9%, P<0.001) and metacarpophalangeal joint (MCP) (36.4% vs 78.8%, P=0.009) involvement. The positivity for rheumatoid factor (RF) (36.4% vs 84.6%, P=0.001) and anti-CCP antibody (9.1% vs 81.8%, P=0.000), as well as the median RF titer [43.8 (31.7-61.0) vs 175.4 (21.3-940.3), P = 0.021], in MRH patients was lower than that in RA patients. Elevation of the erythrocyte sedimentation rate (ESR) was also less common in MRH patients than in RA patients (36.4% vs 72.7%, P=0.030). After treatment with median- to large-dose corticosteroids and disease-modifying antirheumatic drugs, 8 patients achieved complete remission, and 2 patients achieved partial remission (skin lesions ameliorated, joint lesions not ameliorated). ConclusionAlways pathologically diagnosed, MRH is a systemic disease involving RA-like erosive polyarthritis and a specific distribution of skin nodules characterized by "coral beads". More DIP involvement and less elbow, ankle and MCP involvement are seen in MRH than in RA. In addition, less positive and lower-titer RF, uncommon presence of anti-CCP antibodies and ESR elevation may be helpful to distinguish MRH from RA.

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