Search results for "early-onset"
showing 10 items of 11 documents
Investigating fibrosis and inflammation in an ex vivo NASH murine model.
2020
Nonalcoholic fatty liver disease (NAFLD) is the most common liver disease, characterized by excess fat accumulation (steatosis). Nonalcoholic steatohepatitis (NASH) develops in 15–20% of NAFLD patients and frequently progresses to liver fibrosis and cirrhosis. We aimed to develop an ex vivo model of inflammation and fibrosis in steatotic murine precision-cut liver slices (PCLS). NASH was induced in C57Bl/6 mice on an amylin and choline-deficient l-amino acid-defined (CDAA) diet. PCLS were prepared from steatohepatitic (sPCLS) and control (cPCLS) livers and cultured for 48 h with LPS, TGFβ1, or elafibranor. Additionally, C57Bl/6 mice were placed on CDAA diet for 12 wk to receive elafibranor…
PI3K inhibition reduces murine and human liver fibrogenesis in precisioncut liver slices
2019
Background: Liver fibrosis results from continuous inflammation and injury. Despite its high prevalence worldwide, no approved antifibrotic therapies exist. Omipalisib is a selective inhibitor of the PI3K/mTOR pathway that controls nutrient metabolism, growth and proliferation. It has shown antifibrotic properties in vitro. While clinical trials for idiopathic pulmonary fibrosis have been initiated, an in-depth preclinical evaluation is lacking. We evaluated omipalisib's effects on fibrogenesis using the ex vivo model of murine and human precision-cut tissue slices (PCTS).Methods: Murine and human liver and jejunum PCTS were incubated with omipalisib up to 10 mu M for 48 h. PI3K pathway act…
Structural changes induced by daily music listening in the recovering brain after middle cerebral artery stroke: a voxel-based morphometry study
2014
[Abstract.] Music is a highly complex and versatile stimulus for the brain that engages many temporal, frontal, parietal, cerebellar, and subcortical areas involved in auditory, cognitive, emotional, and motor processing. Regular musical activities have been shown to effectively enhance the structure and function of many brain areas, making music a potential tool also in neuro- logical rehabilitation. In our previous randomized controlled study, we found that listening to music on a daily basis can improve cognitive recovery and improve mood after an acute mid- dle cerebral artery stroke. Extending this study, a voxel-based morphometry (VBM) analysis utilizing cost function masking was perf…
What are the risk factors for postoperative infections of third molar extraction surgery: A retrospective clinical study-?
2018
Background This study aimed to identify (1) the predilection site of postoperative infection after third molar extraction surgery, (2) risk factors associated with postoperative infection, and (3) the cause of the difference between delayed- and early-onset infections. Material and Methods This retrospective study included 1010 patients (396 male, 614 female) who had ≥1 third molars extracted (2407; 812 maxilla, 1595 mandible). The risk factors were classified as attributes, general health, anatomic, and operative. Outcome variables were delayed- and early-onset infections. Results Postoperative infection was completely absent in the maxilla, and all infections occurred in the mandible, wit…
Neurodevelopmental subtypes of bipolar disorder are related to cortical folding patterns: An international multicenter study
2018
Objectives Brain sulcation is an indirect marker of neurodevelopmental processes. Studies of the cortical sulcation in bipolar disorder have yielded mixed results, probably due to high variability in clinical phenotype. We investigated whole-brain cortical sulcation in a large sample of selected patients with high neurodevelopmental load. Methods A total of 263 patients with bipolar disorder I and 320 controls were included in a multicentric magnetic resonance imaging (MRI) study. All subjects underwent high-resolution T1-weighted brain MRI. Images were processed with an automatized pipeline to extract the global sulcal index (g-SI) and the local sulcal indices (l-SIs) from 12 a priori dete…
To investigate cum “granuloma” salis: Chronic granulomatous disease vs Crohn's disease
2020
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple tissues both in the presence and absence of microorganisms. Inflammation often involves the gastrointestinal tract and the clinical, laboratory, and histological characteristics are hardly distinguishable from Crohn's disease (CD). CGD is indeed a rare but important differential diagnosis of chronic inflammatory bowel disease (IBD) especially when occurring in early life and its early detection is crucial to improve the prognosis. The paper report…
The titanium-made growth-guidance technique for early-onset scoliosis at minimum 2-year follow-up: A prospective multicenter study.
2019
Background The management of early-onset scoliosis (EOS) remains a serious challenge in pediatric orthopedics. The growth-guidance system (GGS) is a surgical option that allows continuous growth along a rod, averting the need for repeated operative lengthening. Objectives The objective of this study was to evaluate the outcomes of the GGS in the treatment of EOS. Material and methods A prospective study, including 81 patients from 4 departments treated with this method from 2013 to 2015, was conducted with a minimum follow-up period of 24 months. The follow-up data of 57 patients was available, thus the drop-out rate was 29.63%. There were 44 girls with a mean age of 10.03 years and 13 boys…
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…
2019
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…
Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation
2015
no abstract available
A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease
2004
We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier,…