Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

We report here a 4-year-old boy presenting with profound developmental delay, non-syndromic epileptic encephalopathy, and early brain atrophy. The level of serum neuron specific enolase (NSE) was elevated, but the level of serum phosphorylated neurofilament heavy chain was not detectable. Targeted next-generation sequencing identified a de novo hemizygous splice donor site mutation, c.830+1G > A in WDR45, which resulted in a splicing defect evidenced by reverse transcriptase-PCR. Mutations in WDR45 should be considered as a cause for epileptic encephalopathies in males with profound developmental delay and brain atrophy. Furthermore, elevation of serum NSE may contribute to early diagnosis of BPAN. PMID: 28711740 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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We report an attomolar sensitive electrochemical genosensor for the detection of cauliflower mosaic virus 35S (CaMV35S) gene. The sandwich-type genosensor uses gold-silver core-shell (Au@Ag)-loaded iron oxide (Fe3O4) nanocomposite (Fe3O4-Au@Ag) as label of signal DNA probe (sDNA). Electrochemical sensing is accomplished at interface of electrodeposited AuNPs and carboxylated multiwalled carbon nanotubes-modified glassy carbon electrode through the specific interaction between the capture probe and target CaMV35S (tDNA), and tDNA and the labeled sDNA. The detection sensitivity was improved by the amplified reduction signal ...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
ve; V Abstract The development of a simple and economical spectrophotometric system based on the use of a device created by 3D printing and the electronics necessary to control the intensity of the radiation source was described. The measurements are made with a low-cost digital webcam. The entire system is only powered through the USB outputs of a computer, which makes the portable and really practical system for the measurements in the field. This method was applied to determine iron (II) in waters using o-phenanthroline as chromogenic reagent giving a red complex, and also to hypochlorite determination using te...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
In this study, a newly designed material named Fe3O4@MIL(Fe/Ti) was synthesized using a layer-by-layer self-assembly technique that coats the surface of magnetic oxide nanospheres with bimetallic MOF of iron and titanium. The synergistic synthetic coating of the bimetallic MOF gives the material a large surface area and excellent hydrophilicity, which endow the nanoparticles with excellent phosphopeptide enrichment ability, high selectivity (β-casein/BSA molar ratio 1:500), a low detection limit (3 fmol), high recovery rate (85%), strong binding capacity, size exclusion ability, and ideal batch-to-batch repeatabilit...
Source: Talanta - Category: Chemistry Authors: Tags: Talanta Source Type: research
Publication date: Available online 14 September 2019Source: Materials Today: ProceedingsAuthor(s): P.Ya. Bibikov, A.D. Bardovskiy, A.M. KeropyanAbstractIn metallurgical production weak limestones and dolomites are widely used as flux materials with lump sizes of 25–70 mm in the iron and steel smelting to protect the melt’s surface from oxidation and remove harmful impurities. It was found that a characteristic feature of weak rocks is presence of a large number of so-called ‘hard-to-separate’ grains in the incoming mined rock, the size of which is comparable with the size of sieve openings. As a r...
Source: Materials Today: Proceedings - Category: Materials Science Source Type: research
Publication date: Available online 15 September 2019Source: Journal of Materials Research and TechnologyAuthor(s): Ehab A. Abdelrahman, R.M. Hegazey, Ragaa E. El-AzabawyAbstractIn this paper, non-crystalline novel adsorbents composed of sodium, oxygen, silicon, and other metals such as iron, nickel, chromium, or zinc were produced using the gelation method. The amorphous products were characterized using various instruments, for example, XRD, FT-IR, FE-SEM, EDS, and BET. The BET affirmed that the amorphous products contain mesopores, micropores, and macropores. Broad XRD peak in the range 2ɵ = 20–40 was gotten f...
Source: Journal of Materials Research and Technology - Category: Materials Science Source Type: research
ConclusionDifferent forms of discrimination are associated with PEs in the general population. As discrimination is common at the societal level, this highlights the importance of public policy and evidence-based interventions to reduce discrimination and improve population mental health.
Source: European Psychiatry - Category: Psychiatry Source Type: research
Publication date: Available online 13 September 2019Source: Journal of Clinical NeuroscienceAuthor(s): Jie Bai, Wen-Juan Zhang, Zhi-Fang Ruan, Bei-Bei Chen, Gang Zhao, Dong Wang, Jing-Xia Dang, Yong-Hong LiuAbstractPhotosensitive is probably caused by multiple factors including gender, familiar, etc. We aim to study the clinical and EEG features of Chinese Han patients with photosensitivity. A total of 5482 consecutive patients with possible epilepsy from 3 center in China. Of the 73 patients with PPR to IPS, 48 were female. 69.9% patients were evoked by frequency ranged 8 Hz–25 Hz, with accompanying seizures in ...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
The objective of the current study was to investigate the change in IPS and attention during head-up tilt (HUT) in patients with NOH compared to controls. Cognitive function was assessed in the supine and HUT positions using the symbol digit modalities test (SDMT) which assesses IPS and the Stroop Test which measures attention. 40 participants completed the study, 20 controls (age 64.50 ± 9.25) and 20 NOH patients (age 69.55 ± 7.43) with associated conditions of Parkinson's disease (n = 11), multiple systems atrophy (n = 3), early Lewy body dementia (n = 1) and idiopathic NOH (n = 5). ...
Source: Physiology and Behavior - Category: Physiology Source Type: research
This study hence reveals the potential of Fe,Ru complexes as potent cytotoxic agents.Graphical abstract
Source: Journal of Organometallic Chemistry - Category: Chemistry Source Type: research
This study provided a promising treatment method to inhibit antibiotic resistance and revealed the oxidative damage of AR E. coli and gene under SO4·- involved system.
Source: Chemical Engineering Journal - Category: Chemistry Source Type: research
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