Predicting time to remission of juvenile dermatomyositis: the role of clinical features

2009 ◽  
Vol 4 (4) ◽  
pp. 387-389
Author(s):  
Elizabeth Stringer ◽  
Brian Feldman
Keyword(s):  
Clinical Features ◽  
Juvenile Dermatomyositis

scholarly journals Native α-Synuclein, 3-Nitrotyrosine Proteins, and Patterns of Nitro-α-Synuclein-Immunoreactive Inclusions in Saliva and Submandibulary Gland in Parkinson’s Disease

Antioxidants ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 715
Author(s):  
Emilio Fernández-Espejo ◽  
Fernando Rodríguez de Fonseca ◽  
Juan Suárez ◽  
Eduardo Tolosa ◽  
Dolores Vilas ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Nervous System ◽  
Clinical Features ◽  
Clinical Feature ◽  
Similar Concentration ◽  
Duct Cells ◽  
Nitrative Stress ◽  
Salivary Concentration

Background. Salivary α-synuclein (aSyn) and its nitrated form, or 3-nitrotyrosine-α-synuclein (3-NT-αSyn), hold promise as biomarkers for idiopathic Parkinson’s disease (IPD). Nitrative stress that is characterized by an excess of 3-nitrotyrosine proteins (3-NT-proteins) has been proposed as a pathogenic mechanism in IPD. The objective is to study the pathological role of native αSyn, 3-NT-αSyn, and 3-NT-proteins in the saliva and submandibulary glands of patients with IPD. Methods. The salivary and serum αSyn and 3-NT-proteins concentration is evaluated with ELISA in patients and controls. Correlations of αSyn and 3-NT-proteins content with clinical features of the disease are examined. Immunohistochemical 3-NT-αSyn expression in submandibulary gland sections is analyzed. Results. (a) Salivary concentration and saliva/serum ratios of native αSyn and 3-NT-proteins are similar in patients and controls; (b) salivary αSyn and 3-NT-proteins do not correlate with any clinical feature; and (c) three patterns of 3-NT-αSyn-positive inclusions are observed on histological sections: rounded “Lewy-type” aggregates of 10–25 µm in diameter, coarse deposits with varied morphology, and spheroid inclusions or bodies of 3–5 µm in diameter. “Lewy-type” and coarse inclusions are observed in the interlobular connective tissue of the gland, and small-sized bodies are located within the cytoplasm of duct cells. “Lewy-type” inclusions are only observed in patients, and the remaining patterns of inclusions are observed in both the patients and controls. Conclusions. The patients’ saliva presents a similar concentration of native αSyn and 3-nitrotyrosine-proteins than that of the controls, and no correlations with clinical features are found. These findings preclude the utility of native αSyn in the saliva as a biomarker, and they indicate the absence of nitrative stress in the saliva and serum of patients. As regards nitrated αSyn, “Lewy-type” inclusions expressing 3-NT-αSyn are observed in the patients, not the controls—a novel finding that suggests that a biopsy of the submandibulary gland, if proven safe, could be a useful technique for diagnosing IPD. Finally, to our knowledge, this is also the first description of 3-NT-αSyn-immunoreactive intracytoplasmic bodies in cells that are located outside the nervous system. These intracytoplasmic bodies are present in duct cells of submandibulary gland sections from all subjects regardless of their pathology, and they can represent an aging or involutional change. Further immunostaining studies with different antibodies and larger samples are needed to validate the data.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

Inflammatory Breast Cancer: Clinical Features and the Role of Multimodality Therapy

1996 ◽  
Vol 2 (5) ◽  
pp. 345-352 ◽  
Author(s):  
Vicente Valero ◽  
Aman U. Buzdar ◽  
Gabriel N. Hortobagyi
Keyword(s):  
Breast Cancer ◽  
Clinical Features ◽  
Inflammatory Breast Cancer ◽  
Multimodality Therapy

Clinical features, muscle biopsy scores, myositis specific antibody profiles and outcome in juvenile dermatomyositis

2021 ◽  
Vol 51 (1) ◽  
pp. 95-100
Author(s):  
Erdal Sag ◽  
Selcan Demir ◽  
Yelda Bilginer ◽  
Beril Talim ◽  
Goknur Haliloglu ◽  
...  
Keyword(s):  
Clinical Features ◽  
Muscle Biopsy ◽  
Specific Antibody ◽  
Juvenile Dermatomyositis

scholarly journals WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

2021 ◽  
Author(s):  
Sebiha Cevik ◽  
Lama Alabdi ◽  
Xiaoyu Peng ◽  
Tina Beyer ◽  
Atiyye Zorluer ◽  
...  
Keyword(s):  
Clinical Features ◽  
Renal Agenesis ◽  
Rare Disorders ◽  
Compartment Analysis ◽  
C Elegans ◽  
Gtpase Activating Proteins ◽  
Mechanistic Analysis ◽  
Evolutionarily Conserved ◽  
Null Mutants

Abstract The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous truncating variant in WDR31 in a patient with a typical ciliopathy phenotype encompassing congenital hydrocephalus, polydactyly, and renal agenesis. WDR31 is an evolutionarily conserved protein that localizes to the cilium and cilia-related compartment. Analysis from zebrafish supports the role of WDR31 in regulating the cilia morphology. The CRISPR/Cas9 knock-in (p.Arg261del) C. elegans model of the patient variant (p.Arg268*) reproduced several cilia-related defects observed in wdr-31 null mutants. Mechanistic analysis from C. elegans revealed that WDR-31 functions redundantly with ELDM-1 (ELMOD protein) and RPI-2 (RP2) to regulate the IFT trafficking through controlling the cilia entry of the BBSome. This work revealed WDR31 as a new ciliopathy protein that regulates IFT and BBSome trafficking.

scholarly journals Correction: The Clinical Features of Preschool Children With Speech and Language Disorder and the Role of Maternal Language

2021 ◽  
Vol 45 (3) ◽  
pp. 224-224
Author(s):  
Hyeong Seop Kim ◽  
Heesuk Shin ◽  
Chul Ho Yoon ◽  
Eun Shin Lee ◽  
Min-Kyun Oh ◽  
...  
Keyword(s):  
Preschool Children ◽  
Clinical Features ◽  
Language Disorder ◽  
Speech And Language ◽  
Maternal Language

scholarly journals Tuberculosis – burden and serodiagnosis

2020 ◽  
Vol 14 (1) ◽  
pp. 59-69 ◽  
Author(s):  
Md Mohiuddin
Keyword(s):  
Clinical Features ◽  
Causes Of Death

Tuberculosis (TB) is one of the leading causes of death worldwide. Clinical features and demonstration of the organism by microscopy/culture are still the mainstay of diagnosis of tuberculosis. The present paper reviews the burden of TB and the role of serology in its diagnosis. Ibrahim Med. Coll. J. 2020; 14(1): 59-69

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

2007 ◽  
Vol 418 (1) ◽  
pp. 1-3
Author(s):  
Carmine Ungaro ◽  
Teresa Sprovieri ◽  
Francesca L. Conforti ◽  
Maria Muglia ◽  
Alessandra Patitucci ◽  
...  
Keyword(s):  
Clinical Features ◽  
Putative Role

The Role of CXC-Chemokine IL-8, IL-6 and CXCR2 Receptor in Lymphoplasmacytic Lymphoma: Correlations with Microvascular Characteristics and Clinical Features

2014 ◽  
Vol 2 (2) ◽  
pp. 110-118 ◽  
Author(s):  
Georgia Levidou ◽  
Tatiana Tzenou ◽  
Marie-Christine Kyrtsonis ◽  
Eftychia Nikolaou ◽  
Nikolaos Kavantzas ◽  
...  
Keyword(s):  
Clinical Features ◽  
Lymphoplasmacytic Lymphoma ◽  
Cxc Chemokine
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