scholarly journals Scar sarcoidosis: additional involvement of de novo sites and update on immunopathogenesis

2019 ◽  
Vol 5 (4) ◽  
pp. 898
Author(s):  
Vasudha A. Belgaumkar ◽  
Ravindranath B. Chavan ◽  
Prernaa R. Suryataley ◽  
Pallavi P. Patil ◽  
Vijay V. Raut
Keyword(s):  
Developing Countries ◽  
Inflammatory Disease ◽  
De Novo ◽  
Unknown Etiology ◽  
Cutaneous Sarcoidosis ◽  
Diverse Range ◽  
Noncaseating Granuloma ◽  
Immune Mediated ◽  
Clinical Presentations ◽  
Scar Sarcoidosis

Cutaneous sarcoidosis is an immune-mediated multisystem granulomatous inflammatory disease of unknown etiology. Noncaseating granuloma in pre-existing scars is an uncommon but specific cutaneous manifestation of sarcoidosis. This great imitator may be an under-diagnosed disease in developing countries like India probably because of the diverse range of clinical presentations. Herein we present a 45-year old female with cutaneous sarcoidosis involving scars in addition to de-novo sites.

scholarly journals Seronegative Autoimmune Hepatitis A Clinically Challenging Difficult Diagnosis

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Jagannath M. Sherigar ◽  
Arefiev Yavgeniy ◽  
Debra Guss ◽  
Nhu Ngo ◽  
Smruti Mohanty
Keyword(s):  
Liver Disease ◽  
Autoimmune Hepatitis ◽  
Diagnostic Criteria ◽  
Unknown Etiology ◽  
Routine Practice ◽  
Specificity And Sensitivity ◽  
Appropriate Treatment ◽  
Immune Mediated ◽  
Clinical Presentations ◽  
International Autoimmune Hepatitis Group

Autoimmune hepatitis (AIH) is a complex liver disease of unknown cause which results in immune-mediated liver injury with varied clinical presentations. Seronegative AIH follows a similar course to autoantibody-positive disease and diagnosis may be challenging. There are no single serologic tests of sufficient diagnostic specificity, and delay in appropriate treatment may lead to progression of the liver disease and liver failure. The revised conventional diagnostic criteria (RDC) scoring for AIH is complex and not routinely used in the clinical practice. The more recent simplified diagnostic criteria (SDC) scoring proposed by International Autoimmune Hepatitis Group in 2008 has wider application in routine practice facilitating the diagnosis of AIH with a specificity and sensitivity of ~90%. In this report, we describe a case of seronegative autoimmune hepatitis diagnosed using RDC. SDC score calculated in our case was 4 and was not diagnostic for AIH. We subsequently used the complex revised diagnostic criteria for definitive diagnosis. Some of the patients previously diagnosed as cryptogenic active hepatitis of unknown etiology probably had an unrecognized diagnosis of seronegative autoimmune hepatitis. SDC scoring may not be applicable in patients with seronegative autoimmune hepatitis. These patients should be reassessed by using RDC.

Histiocytic Sarcoma in the Kidney: A Rare Presentation

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S72-S72
Author(s):  
Priya Johal
Keyword(s):  
De Novo ◽  
Cell Cancer ◽  
Histiocytic Sarcoma ◽  
Unknown Etiology ◽  
Rare Presentation ◽  
Transplant Patients ◽  
Clinical Presentations ◽  
Eosinophilic Cytoplasm ◽  
Wide Range ◽  
History Of

Abstract Background Histiocytic sarcoma is a rare neoplasm of mature histiocytes with a wide range of clinical presentations and manifestations. The heterogeneity of this neoplasm can cause difficulty in both diagnosis and treatment. It is a diagnosis of exclusion, requiring verification of the histiocytic lineage and the exclusion of other B-cell related malignancies. Although cases of postrenal transplant histiocytic sarcoma have been reported, incidences in a native kidney are rare. Case Report We present the case of a 70-year-old male with a history of colorectal adenocarcinoma, status post chemotherapy, with an incidental exophytic renal mass found on imaging, which was determined to be a sarcomatoid renal cell cancer on biopsy. Radical nephrectomy was performed, revealing a 4.5 × 3.5 × 3.2-cm mass invading the renal pelvis and fat. Microscopic examination of the tumor showed large, poorly cohesive neoplastic cells with abundant pale, eosinophilic cytoplasm that stained positive for vimentin, CD4, CD163, and CD68 and weakly/focally positive for lysozyme. Negative immunostains included PAX-8, pan-CK, AE1/AE3, HMB45, S100, CD34, CD30, ALK1, CD1a, myeloperoxidase, CD138, myo-D1, SMA, and CD21. A diagnosis of histiocytic sarcoma, grade 4 was made based on these findings. Discussion Histiocytic sarcoma is a disease of unknown etiology accounting for less than 1% of all hematolymphoid neoplasms. Our literature review revealed no other cases arising de novo in the kidney, but several cases were reported in postrenal transplant patients. Diagnosis of histiocytic sarcoma is difficult as it is a diagnosis of exclusion. The immunohistochemical profile most often expresses lysosome-related markers, such as CD68, CD163, or lysozyme. Additionally, negative staining is expected for markers related to B cells, T cells, and melanocytes. The cells are often large with eosinophilic cytoplasm, well-defined borders, and vesicular chromatin. Although there are numerous differentials, distinct morphologic and immunohistochemical features allow for accurate diagnosis.

scholarly journals Sudden Sensorioneural Hearing Loss and Autoimmune Systemic Diseases

2016 ◽  
Vol 21 (03) ◽  
pp. 213-223 ◽  
Author(s):  
Bruno Rossini ◽  
Norma Penido ◽  
Mario Munhoz ◽  
Eduardo Bogaz ◽  
Renata Curi
Keyword(s):  
Hearing Loss ◽  
Response To Treatment ◽  
Unknown Etiology ◽  
Profound Hearing Loss ◽  
Appropriate Treatment ◽  
Immune Mediated ◽  
Clinical Presentations ◽  
Unilateral Involvement ◽  
The Relationship ◽  
Probable Diagnosis

Introduction Several authors have demonstrated the relationship between sudden sensorineural hearing loss (SNHL) and systemic autoimmune diseases (SAD). Immune-mediated SNHL can rarely present as unilateral sudden SNHL and manifests itself in the contralateral ear only after years. It presents clinical relevance for being one of the few SNHL that may be reversible given that early and appropriate treatment is applied. Objective The objective of this study is to describe the clinical presentations and audiological findings from patients with idiopathic sudden SNHL and SAD associated with a probable diagnosis of immune-mediated SNHL. Furthermore, we strive to estimate the prevalence of SAD in patients with sudden SNHL. Methods This is an observational retrospective cohort. We have selected and studied patients with SAD. Revision of available literature on scientific repositories. Results We evaluated 339 patients with sudden SNHL. Among them, 13 (3.83%) patients suffered from SAD. Three patients had bilateral involvement, a total of 16 ears. We evaluate and describe various clinical, epidemiological, and audiological aspects of this sample. Conclusion In our sample of patients with sudden SNHL, the prevalence of SAD was found relevant. The majority had tinnitus and dizziness concomitant hearing loss, unilateral involvement and had experienced profound hearing loss at the time of the installation. In spite of instituted treatment, most cases showed no improvement in audiometric thresholds. Apparently, patients with sudden SNHL and SAD have a more severe initial impairment, higher percentage of bilateral, lower response to treatment, and worse prognosis than patients with sudden SNHL of unknown etiology.

scholarly journals Autoantibody profiles and clinical association in Thai patients with autoimmune retinopathy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Aulia Rahmi Pawestri ◽  
Niracha Arjkongharn ◽  
Ragkit Suvannaboon ◽  
Aekkachai Tuekprakhon ◽  
Vichien Srimuninnimit ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Age Of Onset ◽  
Male Gender ◽  
Blurred Vision ◽  
Autoimmune Retinopathy ◽  
Immune Mediated ◽  
Underlying Malignancy ◽  
Clinical Presentations ◽  
Treatment Plans ◽  
Autoantibody Profiles

AbstractAutoimmune retinopathy (AIR) is a rare immune-mediated inflammation of the retina. The autoantibodies against retinal proteins and glycolytic enzymes were reported to be involved in the pathogenesis. This retrospective cohort study assessed the antiretinal autoantibody profiles and their association with clinical outcomes of AIR patients in Thailand. We included 44 patients, 75% were females, with the overall median age of onset of 48 (17–74, IQR 40–55.5) years. Common clinical presentations were nyctalopia (65.9%), blurred vision (52.3%), constricted visual field (43.2%), and nonrecordable electroretinography (65.9%). Underlying malignancy and autoimmune diseases were found in 2 and 12 female patients, respectively. We found 41 autoantibodies, with anti-α-enolase (65.9%) showing the highest prevalence, followed by anti-CAII (43.2%), anti-aldolase (40.9%), and anti-GAPDH (36.4%). Anti-aldolase was associated with male gender (P = 0.012, OR 7.11, 95% CI 1.54–32.91). Anti-CAII showed significant association with age of onset (P = 0.025, 95% CI − 17.28 to − 1.24), while anti-α-enolase (P = 0.002, OR 4.37, 95% CI 1.83–10.37) and anti-GAPDH (P = 0.001, OR 1.87, 95% CI 1.32–2.64) were significantly associated with nonrecordable electroretinography. Association between the antibody profiles and clinical outcomes may be used to direct and adjust the treatment plans and provide insights in the pathogenesis of AIR.

scholarly journals Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

2020 ◽  
Vol 21 (12) ◽  
pp. 4447
Author(s):  
Pedro A. Lazo ◽  
Juan L. García ◽  
Paulino Gómez-Puertas ◽  
Íñigo Marcos-Alcalde ◽  
Cesar Arjona ◽  
...  
Keyword(s):  
Protein Function ◽  
De Novo ◽  
3D Structure ◽  
Unknown Origin ◽  
Unknown Etiology ◽  
Neurodevelopmental Delay ◽  
Calmodulin Binding ◽  
Whole Exome ◽  
Dynamics Simulations ◽  
Frame Duplication

Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy, severe neuromotor and developmental delay, dystonic tetraparexia, axonal motor affectation, and hyper-excitability of unknown origin. The WES study detected within the patient a de novo heterozygous in-frame duplication of thirty-six nucleotides within exon 7 of the human KCNQ2 gene. This insertion duplicates the first twelve amino acids of the calmodulin binding site I. Molecular dynamics simulations of this KCNQ2 peptide duplication, modelled on the 3D structure of the KCNQ2 protein, suggest that the duplication may lead to the dysregulation of calcium inhibition of this protein function.

The clinical and pathological features of intraplaque hemorrhage in coronary artery -insights from Japan DCA registry-

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
N Nakamura ◽  
S Torii ◽  
T Ijichi ◽  
K Jujo ◽  
M Hara ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Unstable Angina ◽  
De Novo ◽  
Coronary Intervention ◽  
Coronary Plaque ◽  
Active Cell ◽  
Intraplaque Hemorrhage ◽  
Histopathological Analysis ◽  
Coronary Syndrome ◽  
Clinical Presentations

Abstract Introduction Intraplaque hemorrhage (IPH) is known to play an important role in plaque vulnerability in coronary artery. However, the biological reaction in IPH and clinical features of patients with IPH remain unknown, since most histological studies of IPH in coronary artery were performed on autopsy cases. Directional coronary atherectomy (DCA) enables the direct pathological evaluation of collected tissue from “living” patients. Purpose We aimed to clarify the clinical presentations and histopathologic features of IPH using specimens obtained by DCA. Method This multicentral prospective observational study included consecutive patients who underwent percutaneous coronary intervention for de novo lesions using DCA from June 2015 to February 2018. Histopathological sections that were collected from coronary plaques by DCA were evaluated and classified by the presence of IPH. IPH in DCA specimens was defined as clusters of hemosiderin (Figure A, arrows), erythrocytes (Figure B, arrow heads) and fibrin (Figure C, arrows) within the coronary plaque. A total of 154 de novo lesions from 154 patients were ultimately analyzed, and were divided into IPH group (n=37) and non-IPH group (n=117). Result Clinical profiles of patients in the two groups were comparable, except that unstable angina rather than chronic coronary syndrome was significantly more prevalent in the IPH group (32.4% vs. 16.2%, P=0.04). Histopathological analysis showed a significantly higher incidence of cellular-rich plaque (46.0% vs. 25.6%, P=0.02) and spindle-shaped cells (18.9% vs. 6.0%, P=0.02), which indicate active cell proliferations, in the IPH group. The prevalence of necrotic core was also higher in IPH group compared to non-IPH group (48.7% vs. 13.7%, P<0.01). Conclusion Pathohistological analysis revealed that coronary plaques with IPH had an active cell proliferation, and patients with IPH likely to had clinical presentations of unstable angina. Figure 1 Funding Acknowledgement Type of funding source: None

scholarly journals Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

2015 ◽  
Vol 172 (6) ◽  
pp. 803-811 ◽  
Author(s):  
Maya B Lodish ◽  
Bo Yuan ◽  
Isaac Levy ◽  
Glenn D Braunstein ◽  
Charalampos Lyssikatos ◽  
...  
Keyword(s):  
Copy Number ◽  
Molecular Mechanisms ◽  
De Novo ◽  
Genetic Defect ◽  
Molecular Cytogenetics ◽  
Case Series ◽  
Sporadic Case ◽  
Genomic Rearrangements ◽  
Clinical Presentations ◽  
Depth Analysis

ObjectiveWe have recently reported five patients with bilateral adrenocortical hyperplasia (BAH) and Cushing's syndrome (CS) caused by constitutive activation of the catalytic subunit of protein kinase A (PRKACA). By doing new in-depth analysis of their cytogenetic abnormality, we attempted a better genotype–phenotype correlation of theirPRKACAamplification.DesignThis study is a case series.MethodsMolecular cytogenetic, genomic, clinical, and histopathological analyses were performed in five patients with CS.ResultsReinvestigation of the defects of previously described patients by state-of-the-art molecular cytogenetics showed complex genomic rearrangements in the chromosome 19p13.2p13.12 locus, resulting in copy number gains encompassing the entirePRKACAgene; three patients (one sporadic case and two related cases) were observed with gains consistent with duplications, while two sporadic patients were observed with gains consistent with triplications. Although all five patients presented with ACTH-independent CS, the three sporadic patients had micronodular BAH and underwent bilateral adrenalectomy in early childhood, whereas the two related patients, a mother and a son, presented with macronodular BAH as adults. In at least one patient,PRKACAtriplication was associated with a more severe phenotype.ConclusionsConstitutional chromosomalPRKACAgene amplification is a recently identified genetic defect associated with CS, a trait that may be inherited in an autosomal dominant manner or occurde novo. Genomic rearrangements can be complex and can result in different copy number states of dosage-sensitive genes, e.g., duplication and triplication.PRKACAamplification can lead to variable phenotypes clinically and pathologically, both micro- and macro-nodular BAH, the latter of which we speculate may depend on the extent of amplification.

Influence of Confinement on Patients with Autoimmune and Immune-Mediated Inflammatory Disease Receiving Biological Treatment for COVID-19 Infection. The BIOCOVID Study

2021 ◽  
Author(s):  
Judit Font-Urgelles ◽  
Sonia Mínguez-Blasco ◽  
Basilio Rodríguez-Díez ◽  
Lídia Creus-Vila ◽  
Mireia Esquius-Rafat ◽  
...  
Keyword(s):  
Inflammatory Disease ◽  
Biological Treatment ◽  
Immune Mediated
Sign in / Sign up

Export Citation Format

Share Document