Hereditary Angio-Oedema: Its Pathogenesis and Management

1980 ◽  
Vol 25 (3) ◽  
pp. 187-195 ◽  
Author(s):  
Z. Ballogh ◽  
K. Whaley
Keyword(s):  
Clinical Features ◽  
Therapeutic Approach ◽  
Inactive Molecule ◽  
Genetically Determined

Hereditary angio-oedema is a genetically-determined disease. Usually the disease is due to a deficiency of CĪ inhibitor or less commonly to the production of a functionally inactive molecule. The pathogenesis and clinical features of the disease are reviewed, and discussed in relation to the homeostatic role of CĪ inhibitor. Finally the therapeutic approach to the disease is described and the scientific bases for the newer therapeutic regimes discussed.

scholarly journals The Quality of Life Definition: Where Are We Going?

Uro ◽  
2021 ◽  
Vol 1 (1) ◽  
pp. 14-22
Author(s):  
Tommaso Cai ◽  
Paolo Verze ◽  
Truls E. Bjerklund Johansen
Keyword(s):  
Quality Of Life ◽  
Extra Dimension ◽  
Sexual Partner ◽  
Therapeutic Approach ◽  
Well Being ◽  
Narrative Review ◽  
Laboratory Findings

The quality of life (QoL) concept now includes new aspects related to patients’ well-being because QoL has become more of a personal perception than an an objective and measurable entity. Here, we discuss the principal aspects of QoL-related aspects in urology and andrology by using a narrative review. Some aspects concerning the QoL are essential when managing uro-andrological patients. The aim of treatments should not only include the absence of disease or symptoms relief but also the improvement of a patient’s QoL with regard to his/her internal status and relationship with others. In this sense, any therapeutic approach should be based on the patient’s perspectives and not only on the instrumental and laboratory findings. Finally, we discussed the role of a patient’s sexual partner adding an extra dimension to the patient-centerd approach as part of the QoL concept in andrology.

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

Mannose-binding lectin genetics: from A to Z

2008 ◽  
Vol 36 (6) ◽  
pp. 1461-1466 ◽  
Author(s):  
Peter Garred
Keyword(s):  
Epidemiological Studies ◽  
Mannose Binding Lectin ◽  
Host Cells ◽  
Lectin Pathway ◽  
Mannose Binding ◽  
The Stability ◽  
Genetically Determined ◽  
Micro Organisms ◽  
Binding Lectin

MBL (mannose-binding lectin) is primarily a liver-derived collagen-like serum protein. It binds sugar structures on micro-organisms and on dying host cells and is one of the four known mediators that initiate activation of the complement system via the lectin pathway. Common variant alleles situated both in promoter and structural regions of the human MBL gene (MBL2) influence the stability and the serum concentration of the protein. Epidemiological studies have suggested that genetically determined variations in MBL serum concentrations influence the susceptibility to and the course of different types of infectious, autoimmune, neoplastic, metabolic and cardiovascular diseases, but this is still a subject under discussion. The fact that these genetic variations are very frequent, indicates a dual role of MBL. This overview summarizes the current molecular understanding of human MBL2 genetics.

scholarly journals PROTEINURIA IN FOCAL SEGMENTAL GLOMERULOSCLEROSIS: ROLE OF CIRCULATING FACTORS AND THERAPEUTIC APPROACH

Renal Failure ◽  
2001 ◽  
Vol 23 (3-4) ◽  
pp. 533-541 ◽  
Author(s):  
Luigi Moriconi ◽  
Ciro Lenti ◽  
Rodolfo Puccini ◽  
Antonio Pasquariello ◽  
Paolo Rindi ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Therapeutic Approach ◽  
Segmental Glomerulosclerosis

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
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