Characterization of the of the Pathological and Biochemical Markers That Correlate to the Clinical Features of Autism. Subproject 2. Contribution of Significant Delay of Neuronal Development and Metabolic Shift of Neurons to Clinical Phenotype of Autism

2013 ◽  
Author(s):  
Jerzy Wegiel ◽  
W. T. Brown
Keyword(s):  
Clinical Features ◽  
Biochemical Markers ◽  
Neuronal Development ◽  
Clinical Phenotype ◽  
Metabolic Shift ◽  
Significant Delay

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome

2017 ◽  
Vol 152 (1) ◽  
pp. 22-28
Author(s):  
Elisa Tassano ◽  
Thea Giacomini ◽  
Mariasavina Severino ◽  
Alessandra Gamucci ◽  
Patrizia Fiorio ◽  
...  
Keyword(s):  
Clinical Features ◽  
Array Cgh ◽  
Clinical Phenotype ◽  
Rare Condition ◽  
Genetic Data ◽  
Neurofibromatosis Type ◽  
Microdeletion Syndrome

17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient.

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication

2013 ◽  
Vol 110 (1-2) ◽  
pp. 90-97 ◽  
Author(s):  
Marie-Laure Vuillaume ◽  
Marie-Ange Delrue ◽  
Sophie Naudion ◽  
Jérôme Toutain ◽  
Patricia Fergelot ◽  
...  
Keyword(s):  
Clinical Phenotype

scholarly journals TRENDS OF CONTEMPORARY LEPTOSPIROSIS (REVIEW OF LITERATURE)

2018 ◽  
Vol 23 (2) ◽  
pp. 93-100
Author(s):  
Vladimir N. Gorodin ◽  
D. L. Moysova ◽  
V. A. Bakhtina ◽  
S. V. Zotov
Keyword(s):  
Organ Dysfunction ◽  
Clinical Features ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Disease Complex ◽  
Modern Information ◽  
Clinically Significant

A review of the literature is devoted to one of the most common and clinically significant zoonoses - leptospirosis. The article summarizes modern information on prevalence, epidemiology, etiopathogenesis and clinical features, diagnosis of leptospirosis infection over the last 10 years. The particular attention is paid to the characterization of severe forms of the disease, complex approaches to the treatment of the disease, correction of organ dysfunction and hemostasis disorders; review.

Characterization of a human pluripotent stem cell-derived model of neuronal development using multiplexed targeted proteomics

2015 ◽  
Vol 9 (7-8) ◽  
pp. 684-694 ◽  
Author(s):  
Tom Dunkley ◽  
Veronica Costa ◽  
Arno Friedlein ◽  
Sebastian Lugert ◽  
Stefan Aigner ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Neuronal Development ◽  
Targeted Proteomics ◽  
Human Pluripotent Stem Cell

scholarly journals Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

2020 ◽  
Author(s):  
Mami Shibata ◽  
Atsushi Ishii ◽  
Ayako Goto ◽  
Shinichi Hirose
Keyword(s):  
Distribution Function ◽  
Intellectual Disability ◽  
Cumulative Distribution Function ◽  
Clinical Phenotype ◽  
Cytoplasmic Domain ◽  
Cumulative Distribution ◽  
Clinical Implications ◽  
Healthy Individuals ◽  
Conserved Domains

AbstractMissense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and truncating variants from the literature and by sequencing six exons and intron–exon boundaries of PCDH19 in our cohort. We investigated the distribution of each type of variant using the cumulative distribution function and tested for associations between variant types and phenotypes. The distribution of missense variants in patients was clearly different from that of healthy individuals and was uniform throughout the extracellular cadherin (EC) domain, which consisted of six highly conserved domains. Truncating variants showed two types of distributions: (1) located from EC domain 1 to EC domain 4, and (2) located from EC domain 5 to the cytoplasmic domain. Furthermore, we also found that later onset seizures and milder intellectual disability occurred in patients with truncating variants located from EC domain 5 to the cytoplasmic domain compared with those of patients with other variants. Our findings provide the first evidence of two types of truncating variants in the PCDH19 gene with regard to distribution and the resulting clinical phenotype.

scholarly journals Lactate Production Precedes Inflammatory Cell Recruitment in Arthritic Ankles: an Imaging Study

2020 ◽  
Vol 22 (5) ◽  
pp. 1324-1332
Author(s):  
Marie-Aline Neveu ◽  
Nicolas Beziere ◽  
Rolf Daniels ◽  
Caroline Bouzin ◽  
Arnaud Comment ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Inflammatory Cell ◽  
Immune Cell ◽  
Lactate Production ◽  
High Rate ◽  
Metabolic Shift ◽  
Pyruvate Metabolism ◽  
Cell Recruitment ◽  
Inflammatory Cell Recruitment

Abstract Purpose Inflammation is involved in many disease processes. However, accurate imaging tools permitting diagnosis and characterization of inflammation are still missing. As inflamed tissues exhibit a high rate of glycolysis, pyruvate metabolism may offer a unique approach to follow the inflammatory response and disease progression. Therefore, the aim of the study was to follow metabolic changes and recruitment of inflammatory cells after onset of inflammation in arthritic ankles using hyperpolarized 1-13C-pyruvate magnetic resonance spectroscopy (MRS) and 19F magnetic resonance imaging (MRI), respectively. Procedure Experimental rheumatoid arthritis (RA) was induced by intraperitoneal injection of glucose-6-phosphate-isomerase-specific antibodies (GPI) containing serum. To monitor pyruvate metabolism, the transformation of hyperpolarized 1-13C-pyruvate into hyperpolarized 1-13C-lactate was followed using MRS. To track phagocytic immune cell homing, we intravenously injected a perfluorocarbon emulsion 48 h before imaging. The animals were scanned at days 1, 3, or 6 after GPI-serum injection to examine the different stages of arthritic inflammation. Finally, to confirm the pyruvate metabolic activity and the link to inflammatory cell recruitment, we conducted hematoxylin-eosin histopathology and monocarboxylase transporter (MCT-1) immune histochemistry (IHC) of inflamed ankles. Results Hyperpolarized 1-13C-pyruvate MRS revealed a high rate of lactate production immediately at day 1 after GPI-serum transfer, which remained elevated during the progression of the disease, while 19F-MRI exhibited a gradual recruitment of phagocytic immune cells in arthritic ankles, which correlated well with the course of ankle swelling. Histopathology and IHC revealed that MCT-1 was expressed in regions with inflammatory cell recruitment, confirming the metabolic shift identified in arthritic ankles. Conclusions Our study demonstrated the presence of a very early metabolic shift in arthritic joints independent of phagocytic immune cell recruitment. Thus, hyperpolarized 1-13C-pyruvate represents a promising tracer to monitor acute arthritic joint inflammation, even with minor ankle swelling. Furthermore, translated to the clinics, these methods add a detailed characterization of disease status and could substantially support patient stratification and therapy monitoring.

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