scholarly journals Paraneoplastic Stiff Person Syndrome in Early-Stage Breast Cancer with Positive Anti-Amphiphysin Antibodies

2020 ◽  
Vol 12 (3) ◽  
pp. 339-347
Author(s):  
Vitalie Vacaras ◽  
Enia Eleonora Cucu ◽  
Roxana Radu ◽  
Dafin Fior Muresanu
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Early Stage ◽  
Acid Decarboxylase ◽  
Muscle Rigidity ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Cramps ◽  
Classic Form

Stiff person syndrome (SPS) is a rare neurologic disorder, characterized by muscle rigidity and spasms. Anti-glutamic acid decarboxylase (anti-GAD) antibodies are associated with the classic form of SPS, while antibodies against amphiphysin are associated with the paraneoplastic form of the disease. We present the case of a patient with paraneoplastic SPS, presenting with muscle cramps of lower extremities that progressed to severe muscle rigidity and spasms, associated with a right breast tumor and positive anti-amphiphysin antibodies. Paraneoplastic SPS is a rare neurological disorder, challenging for the physicians both to diagnose and treat.

Subcutaneous Immunoglobulin Therapy with IgPro20 in Patients with Stiff Person Syndrome and Primary Immunodeficiency Disease

2021 ◽  
pp. 1-5
Author(s):  
Olivia Francis ◽  
Avni Joshi ◽  
Ty Prince ◽  
Guha Krishnaswamy ◽  
Niraj C. Patel
Keyword(s):  
Glutamic Acid Decarboxylase ◽  
Immunoglobulin Therapy ◽  
Primary Immunodeficiency Disease ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Subcutaneous Immunoglobulin ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Spasms ◽  
Immunodeficiency Disease

Stiff Person Syndrome (SPS), a rare autoimmune neurologic disorder characterized by fluctuating muscle spasms and rigidity, is mediated by autoantibodies to glutamic acid decarboxylase (GAD) antibodies. Symptoms of SPS have been shown to improve after administration of intravenous immunoglobulin (IVIG) however, there is a paucity of information regarding use of SCIg in SPS. Four patients with Stiff Person Syndrome were treated with SCIgPro20 for a period between 31 to 101 months. Most reactions were local and mild. All patients reported improvement in spasticity, and 2 patients reported improvement in seizure frequency. SCIgPro20 was well tolerated in patients with SPS and was associated with improvement in symptoms.

Breast Tumor Detection in MR Images Based on Density

2021 ◽  
pp. 2250001
Author(s):  
Neeraj Shrivastava ◽  
Jyoti Bharti
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Early Stage ◽  
Region Growing ◽  
Tumor Detection ◽  
Misclassification Rate ◽  
Seed Region ◽  
True Negative ◽  
Multiple Tumor ◽  
Breast Image

Breast cancer is dangerous in women. It is generally found after the symptoms appear. Detecting the breast cancer at an early stage and understanding the treatment are the most important strategies to prevent death from cancer. Generally, for detection of breast cancer, breast Magnetic Resonance Image (MRI) takes place. It is one of the best approaches to detect tumor in women. In this research paper, a combination of selection methods for seed region growing image segmentation is suggested to detect breast tumor. The suggested method has been divided into following parts: First, the pre-processing of breast image is performed. Second, the automatic threshold for binarization process is calculated. Third, the number of seed points and its position in the breast image are determined automatically using density of pixels value. Fourth, a method for calculation of threshold value is proposed for the purpose of region creation in seed region growing. For the evaluation purpose, the proposed method was applied and tested on the RIDER MRI breast dataset from National Biomedical Imaging Archive (NBIA). After the test was performed, it was observed that proposed algorithm gives 90% accuracy, 88% True Negative Fraction, 91% True Positive Fraction, 10% Misclassification Rate, 94% Precision and 86% Relative Overlap which is better than other existing methods. It not only gives better evaluation measure but also provides segmentation method for multiple tumor detection.

scholarly journals Stiff Person Syndrome and Gluten Sensitivity

Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1373
Author(s):  
Marios Hadjivassiliou ◽  
Panagiotis Zis ◽  
David S. Sanders ◽  
Nigel Hoggard ◽  
Ptolemaios G. Sarrigiannis
Keyword(s):  
Autoimmune Diseases ◽  
Axial Stiffness ◽  
Acid Decarboxylase ◽  
Gluten Sensitivity ◽  
Stiff Person Syndrome ◽  
Gluten Free ◽  
Serological Evidence ◽  
Gad Antibodies ◽  
The Mean

Stiff person syndrome (SPS) is a rare autoimmune disease characterised by axial stiffness and episodic painful spasms. It is associated with additional autoimmune diseases and cerebellar ataxia. Most patients with SPS have high levels of glutamic acid decarboxylase (GAD) antibodies. The aetiology of SPS remains unclear but autoimmunity is thought to play a major part. We have previously demonstrated overlap between anti-GAD ataxia and gluten sensitivity. We have also demonstrated the beneficial effect of a gluten-free diet (GFD) in patients with anti-GAD ataxia. Here, we describe our experience in the management of 20 patients with SPS. The mean age at symptom onset was 52 years. Additional autoimmune diseases were seen in 15/20. Nineteen of the 20 patients had serological evidence of gluten sensitivity and 6 had coeliac disease. Fourteen of the 15 patients who had brain imaging had evidence of cerebellar involvement. Twelve patients improved on GFD and in seven GFD alone was the only treatment required long term. Twelve patients had immunosuppression but only three remained on such medication. Gluten sensitivity plays an important part in the pathogenesis of SPS and GFD is an effective therapeutic intervention.

scholarly journals Neurological disorders associated with glutamic acid decarboxylase antibodies: a Brazilian series

2012 ◽  
Vol 70 (9) ◽  
pp. 657-661 ◽  
Author(s):  
Maurício Fernandes ◽  
Renato P. Munhoz ◽  
Paulo Eduardo Mestrinelli Carrilho ◽  
Walter O. Arruda ◽  
Paulo J. Lorenzoni ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Glutamic Acid ◽  
Cerebellar Ataxia ◽  
Glutamic Acid Decarboxylase ◽  
Neurological Disorders ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Glutamic Acid Decarboxylase Antibodies

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.

scholarly journals LRIG1 gene copy number analysis by ddPCR and correlations to clinical factors in breast cancer

2020 ◽  
Author(s):  
Mahmood Faraz ◽  
Andreas Tellström ◽  
Christina Edwinsdotter Ardnor ◽  
Kjell Grankvist ◽  
Lukasz Huminiecki ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Copy Number ◽  
Cancer Biology ◽  
Cox Regression ◽  
Early Stage ◽  
Stage I ◽  
Gene Copy ◽  
Late Relapse ◽  
Cox Regression Analysis

Abstract Background Leucine-rich repeats and immunoglobulin-like domains 1 ( LRIG1 ) copy number alterations and unbalanced gene recombination events have been reported to occur in breast cancer. Importantly, LRIG1 loss was recently shown to predict early and late relapse in stage I-II breast cancer. Methods We developed droplet digital PCR (ddPCR) assays for the determination of relative LRIG1 copy numbers and used these assays to analyze LRIG1 in twelve healthy individuals, 34 breast tumor samples previously analyzed by fluorescence in situ hybridization (FISH), and 423 breast tumor cytosols. Results Four of the LRIG1 /reference gene assays were found to be precise and robust, showing copy number ratios close to 1 (mean, 0.984; standard deviation, +/-0.031) among the healthy control population. The correlation between the ddPCR assays and previous FISH results was low, possibly because of the different normalization strategies used. One in 34 breast tumors (2.9%) showed an unbalanced LRIG1 recombination event. LRIG1 copy number ratios were associated with the breast cancer subtype, steroid receptor status, ERBB2 status, tumor grade, and nodal status. Both LRIG1 loss and gain were associated with unfavorable metastasis-free survival; however, they did not remain significant prognostic factors after adjustment for common risk factors in the Cox regression analysis. Furthermore, LRIG1 loss was not significantly associated with survival in stage I and II cases. Conclusions Although LRIG1 gene aberrations may be important determinants of breast cancer biology, and prognostic markers, the results of this study do not verify an important role for LRIG1 copy number analyses in predicting the risk of relapse in early-stage breast cancer.

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