scholarly journals TFE3 activation in a TSC1 ‐altered malignant PEComa : challenging the dichotomy of the underlying pathogenic mechanisms

2020 ◽  
Vol 7 (1) ◽  
pp. 3-9
Author(s):  
Maren Schmiester ◽  
Anna Dolnik ◽  
Uwe Kornak ◽  
Berit Pfitzner ◽  
Michael Hummel ◽  
...  
Keyword(s):  
Pathogenic Mechanisms ◽  
Malignant Pecoma

Cerebral sinovenous thrombosis during asparaginase treatment

2003 ◽  
Vol 23 (03) ◽  
pp. 109-112
Author(s):  
A. Hirt ◽  
C. Zwicky ◽  
W.A. Wuillemin ◽  
K. Leibundgut
Keyword(s):  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Induction Treatment ◽  
Pathogenic Mechanisms ◽  
Cerebral Sinovenous Thrombosis ◽  
Haemorrhagic Infarction ◽  
Sinovenous Thrombosis

SummaryA boy (age: 71/12 years) with acute lymphoblastic leukaemia developed thrombosis of the sinus sagitalis superior with secondary haemorrhagic infarction while on induction treatment with vincristine, prednisone, and asparaginase. Based on this report, the potential pathogenic mechanisms are discussed with respect to congenital prothrombotic defects as well as to the role of antileukaemic treatment. Current hypotheses on mechanisms for thromboembolism in children and proposed prophylactic strategies are briefly summarized.

COVID-19 and Comorbidities: is Inflammation the Underlying Condition in Children? A narrative Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Giulia Pinna ◽  
Lavinia Sanfilippo ◽  
Pier Paolo Bassareo ◽  
Vassilios Fanos ◽  
Maria Antonietta Marcialis
Keyword(s):  
Risk Factor ◽  
Severe Form ◽  
Narrative Review ◽  
Underlying Condition ◽  
Pathogenic Mechanisms ◽  
Associated Diseases ◽  
Potential Link

: This paper examines the potential link between COVID-19 and the presence of comorbidities and assesses the role of inflammation in this correlation. In COVID-19 patients, the most frequently associated diseases share a pathogenic inflammatory basis and apparently act as a risk factor in the onset of a more severe form of the disease, particularly in adulthood. However, in children, the understanding of the underlying pathogenic mechanisms is often complicated by the milder symptoms presented. A series of theories have therefore been put forward with a view of providing a better understanding of the role played by inflammation in this dramatic setting. All evidence available to date on this topic is discussed in this review.

scholarly journals Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 601
Author(s):  
Keith Mayl ◽  
Christopher E. Shaw ◽  
Youn-Bok Lee
Keyword(s):  
The Body ◽  
The Novel ◽  
Therapeutic Approaches ◽  
Gain Of Function ◽  
Pathogenic Mechanisms ◽  
Hexanucleotide Repeat ◽  
Primary Driver ◽  
Hexanucleotide Repeat Expansion ◽  
Expansion Mutation ◽  
Lateral Sclerosis

A hexanucleotide repeat expansion mutation in the first intron of C9orf72 is the most common known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Since the discovery in 2011, numerous pathogenic mechanisms, including both loss and gain of function, have been proposed. The body of work overall suggests that toxic gain of function arising from bidirectionally transcribed repeat RNA is likely to be the primary driver of disease. In this review, we outline the key pathogenic mechanisms that have been proposed to date and discuss some of the novel therapeutic approaches currently in development.

scholarly journals Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Celeste Sassi ◽  
Rosa Capozzo ◽  
Monia Hammer ◽  
Chiara Zecca ◽  
Monica Federoff ◽  
...  
Keyword(s):  
Late Onset ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Primary Progressive Aphasia ◽  
Complex Spectrum ◽  
Site Mutation ◽  
Progressive Aphasia ◽  
Pathogenic Mechanisms ◽  
Primary Progressive ◽  
Ceroid Lipofuscinosis ◽  
Sporadic Cases

AbstractFrontotemporal dementia (FTD) refers to a complex spectrum of clinically and genetically heterogeneous disorders. Although fully penetrant mutations in several genes have been identified and can explain the pathogenic mechanisms underlying a great portion of the Mendelian forms of the disease, still a significant number of families and sporadic cases remains genetically unsolved. We performed whole exome sequencing in 100 patients with a late-onset and heterogeneous FTD-like clinical phenotype from Apulia and screened mendelian dementia and neuronal ceroid lipofuscinosis genes. We identified a nonsense mutation in SORL1 VPS domain (p.R744X), in 2 siblings displaying AD with severe language problems and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with an heterogeneous phenotype, ranging from behavioural FTD to FTD with memory onset and to the logopenic variant of primary progressive aphasia in one family. Moreover 2 sporadic cases with behavioural FTD carried heterozygous mutations in the CSF1R Tyrosin kinase flanking regions (p.E573K and p.R549H). By contrast, only a minority of patients carried pathogenic C9orf72 repeat expansions (1%) and likely moderately pathogenic variants in GRN (p.C105Y, p.C389fs and p.C139R) (3%). In concert with recent studies, our findings support a common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in dementia patients with predominant frontal symptoms and language impairments.

scholarly journals Excretion of urine extracellular vesicles bearing markers of activated immune cells and calcium/phosphorus physiology differ between calcium kidney stone formers and non-stone formers

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jiqing Zhang ◽  
Sanjay Kumar ◽  
Muthuvel Jayachandran ◽  
Loren P. Herrera Hernandez ◽  
Stanley Wang ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
Calcium Oxalate ◽  
Extracellular Vesicles ◽  
Immune Cells ◽  
Kidney Stone ◽  
Fibroblast Growth Factor 23 ◽  
Pathogenic Mechanisms ◽  
Phosphorus Excretion ◽  
Stone Formers ◽  
Calcium Phosphorus

Abstract Backgrounds: Previous studies have demonstrated that excretion of urinary extracellular vesicles (EVs) from different nephron segments differs between kidney stone formers and non-stone formers (NSFs), and could reflect pathogenic mechanisms of urinary stone disease. In this study we quantified selected populations of specific urinary EVs carrying protein markers of immune cells and calcium/phosphorus physiology in calcium oxalate stone formers (CSFs) compared to non-stone formers (NSFs). Methods Biobanked urine samples from CSFs (n = 24) undergoing stone removal surgery and age- and sex- matched NSFs (n = 21) were studied. Urinary EVs carrying proteins related to renal calcium/phosphorus physiology (phosphorus transporters (PiT1 and PiT2), Klotho, and fibroblast growth factor 23 (FGF23); markers associated with EV generation (anoctamin-4 (ANO4) and Huntington interacting protein 1 (HIP1)), and markers shed from activated immune cells were quantified by standardized and published method of digital flow cytometry. Results Urine excretion of calcium, oxalate, phosphorus, and calcium oxalate supersaturation (SS) were significantly higher in CSFs compared to NSFs (P < 0.05). Urinary excretion of EVs with markers of total leukocytes (CD45), neutrophils (CD15), macrophages (CD68), Klotho, FGF23, PiT1, PiT2, and ANO4 were each markedly lower in CSFs than NSFs (P < 0.05) whereas excretion of those with markers of monocytes (CD14), T-Lymphocytes (CD3), B-Lymphocytes (CD19), plasma cells (CD138 plus CD319 positive) were not different between the groups. Urinary excretion of EVs expressing PiT1 and PiT2 negatively (P < 0.05) correlated with urinary phosphorus excretion, whereas excretion of EVs expressing FGF23 negatively (P < 0.05) correlated with both urinary calcium and phosphorus excretion. Urinary EVs with markers of HIP1 and ANO4 correlated negatively (P < 0.05) with clinical stone events and basement membrane calcifications on papillary tip biopsies. Conclusions Urinary excretion of EVs derived from specific types of activated immune cells and EVs with proteins related to calcium/phosphorus regulation differed between CSFs and NSFs. Further validation of these and other populations of urinary EVs in larger cohort could identify biomarkers that elucidate novel pathogenic mechanisms of calcium stone formation in specific subsets of patients.

scholarly journals Verruciform xanthoma: case report

2016 ◽  
Vol 64 (1) ◽  
pp. 79-82
Author(s):  
Maria Carolina de Lima Jacy MONTEIRO ◽  
Cristiane FURUSE ◽  
Larissa Cunha CÊ ◽  
Alexandre Freitas SANTANA ◽  
Vera Cavalcanti de ARAÚJO
Keyword(s):  
Case Report ◽  
Clinical Case ◽  
Benign Lesion ◽  
Viral Origin ◽  
Pathogenic Mechanisms ◽  
Verruciform Xanthoma ◽  
Local Trauma

ABSTRACT Verruciform xanthoma is a rare, benign lesion, with a papillary aspect, asymptomatic, sessile, white colored, and well-demarcated, that occurs in the gingiva and alveolar mucosa. The histopathological aspect is characterized by the presence of macrophages with foam cytoplasm (xanthoma cells) confined to the soft papillary tissue. The etiology and pathogenic mechanisms are unknown, although some hypothesis, such as local trauma or viral origin have been suggested. The aim of this article was report a clinical case of verruciform xanthoma located in the gingiva showing the clinical and histopathological aspects.

Sign in / Sign up

Export Citation Format

Share Document