Hereditary diffuse leukencephalopathy with spheroids : A microgliopathy due to CSF1 receptor impairment.

We report three patients with HDLS who carried missense mutations in the CSF1R gene, two of them novel (p.L582P and p.V383L). Particularly in younger patients with rapid cognitive decline and/or leukencephalopathy of unknown origin, HDLS appears to be more common than previously thought. Various compounds acting on the CSF1 receptor are available from the treatment of hemato-oncological malignancies, so novel therapeutic approaches could be developed for this devastating condition. PMID: 24706185 [PubMed - in process]
Source: Der Nervenarzt - Category: Neurology Authors: Tags: Nervenarzt Source Type: research

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ConclusionA preoperatively performed TMS using the MAGVENTURE ® MagPro R30 and the LOCALITE® TMS Navigator could be established in our clinical daily practice and allowed a safe and reliable mapping of the primary motor cortex in order to minimize the risk of postoperative neurological deficits and improve the neurological outcome of the patients.
Source: Acta Neurochirurgica - Category: Neurosurgery Source Type: research
Contributors : Guillermo Peluffo ; Ashim Subedee ; Nicholas W Harper ; Natalie Kingston ; Bojana Jovanovic ; Felipe Flores ; Francisco Beca ; Anne Trinh ; Chandra S Chilamakuri ; Eva Papachristou ; Ying Su ; Andriy Marusyk ; Clive D'Santos ; Andrew Beck ; Carlos Caldas ; Jason Carroll ; Kornelia PolyakSeries Type : Expression profiling by high throughput sequencing ; Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiensTo define transcriptional dependencies of TNBCs, we identified transcription factors highly and specifically expressed in primary TNBCs and tested their requirement for cell...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Source Type: research
Cancer cells often rewire their metabolic pathways for adaption to nutrient deficiency within tumors. Wang et  al. demonstrate here that GDH1 interacts with IKK complex and provides a local source of α-KG, which directly activates IKKβ and NF-κB signaling, thereby promoting glucose uptake, tumor cell survival, and brain tumor development.
Source: Molecular Cell - Category: Cytology Authors: Tags: Article Source Type: research
In this study, we performed transcriptomic analysis by RNA sequencing with next generation sequencing (NGS), a newly developed powerful method that enables the quantification of the expression level of genome-wide genes. Extracellular matrix and immune cell migration genes were mainly upregulated whereas cell cycle genes were downregulated in IDH1-mutant U87 cells but not in IDH1-wildtype U87 cells after adding Bev to TMZ. In vitro and in vivo studies were conducted for further investigations to verify these results, and the addition of Bev to TMZ showed a significant antitumor effect only in the IDH1-mutant GBM xenograft ...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
AbstractNon-small cell lung cancer (NSCLC) has been threatening human health for years. Cytotoxicity-based chemotherapy seems to reach plateau in NSCLC treatment. Immunotherapy with immune checkpoint inhibitors (ICIs) against programmed cell death 1 (PD-1/L1) axis are to provide long-term survival benefits for wild-type advanced NSCLC patients with acceptable adverse effects. Though beneficiary population is limited from monotherapy, combination strategies are expanding indicators. Retrospective evidences suggested ICIs are also potentially useful for brain metastasis. Furthermore, the combination of ICIs and surgery are t...
Source: Experimental Hematology and Oncology - Category: Cancer & Oncology Source Type: research
Discussion “Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of> 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC> 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion. There are ethnic differences f...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In conclusion, we found a gradient of increasing blood pressure with higher levels of BMI. The fact that this gradient is present even in the fully adjusted analyses suggests that BMI may cause a direct effect on blood pressure, independent of other clinical risk factors. PRRX1 as a Possible Point of Control for Remyelination https://www.fightaging.org/archives/2018/12/prrx1-as-a-possible-point-of-control-for-remyelination/ Researchers here outline what is possibly a new point of intervention in the processes that maintain the myelin sheath that wraps nerves. This sheath is vital to the correct operatio...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
r S Abstract CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mit...
Source: Der Radiologe - Category: Radiology Authors: Tags: Radiologe Source Type: research
The Rojas family at a recent visit to Boston Children’s. When Paul and Liliana Rojas talk about their life, they describe it in one of two ways — the way it was before their sons, 10-year-old Brandon and 7-year-old Brian, were diagnosed with ALD, and the way it is after. Their story is one of heartbreak — but also hope, in the form of a new clinical trial. Learn more about the results of the clinical trial, recently published in the New England Journal of Medicine, that halted the progression of Brian’s ALD. ALD is short for adrenoleukodystrophy, a debilitating brain disease that simply goes by...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Research and Innovation adrenoleukodystrophy ALD clinical trial Dana-Farber/Boston Children's Cancer and Blood Disorders Center David Williams MD gene therapy Lorenzo's Oil New England Jour Source Type: news
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