Abstract This trial aimed to customize pikeperch ( Sander lucioperca ) larval nutrition using live feed enrichments based on Chlorella vulgaris and Trachydiscus minutus . Pikeperch larvae were fed ...with rotifers and Artemia enriched with C. vulgaris and T. minutus during the first 17 days after exogenous feeding (started 4 days post‐hatching dph) and only Artemia until 20 dph. Larvae were exposed to seven different enrichments: (a) Nannochloropsis occulata (Nanno 3600 reed Mariculture) (Control), (b) C. vulgaris cultured at 20°C in BG‐117 medium (BG20), (c) C. vulgaris cultured at 30°C in BG‐117 medium (BG30), (d) T. minutus cultured at 15°C (T15), (e) T. minutus cultured at 25°C (T25), (f) C. vulgaris cultured at 20°C in urea medium (U20), and (g) C. vulgaris cultured at 30°C in urea medium (U30). After 20 days, no significant differences were found between treatments on total length, standard length, myomere height, and eye diameter. On the contrary, significant differences were found in larval fatty acid composition after the trial period. Larvae from the BG30 treatment showed a significantly higher concentration of docosahexaenoic acid (5.61%), and larvae from the T25 treatment had a higher concentration of eicosapentaenoic acid 12.95%. Furthermore, larvae from the U20 treatment had a significantly higher arachidonic acid concentration of 0.116%. Overall, regarding essential fatty acid concentration, a significant difference was observed between the control treatment ( Nannochloropsis ) and the other treatments. No adverse effects were found on growth or survival when Nannochloropsis‐enriched live feed was replaced with the other enrichments. This trial's results will help optimize the pikeperch larvae's nutritional requirements and diversify the live feed enrichments used during the first feeding.
Biallelic variants in the
NARS2
gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic paraplegia, progressive neurodegeneration to ...Leigh and Alpers syndrome. Common clinical signs result from a mitochondrial dysfunction based on OXPHOS deficiency. Here, we present a patient with infantile-onset severe epilepsy leading to fatal refractory status epilepticus. Whole exome sequencing with Exomiser analysis based on HPO terms detected two novel
NARS2
variants in a compound heterozygous state. To date, 18 different
NARS2
disease-causing mutations have been described. Our study adds to the understanding of this mitochondrial disorder.
Chemotherapy (CHT), surgery and radiotherapy (RT) are essential modalities in the treatment of pancreatic malignancies. Their use in practice may be influenced by a number of factors.
Retrospective ...analysis of CHT, surgery and RT indications and CHT results in patients reported with pancreatic tumor in Pilsen in 2012-2016.
A total of 348 patients with median age 68 (19-89) years with newly diagnosed pancreatic tumor, resp., with histology/cytology verified carcinoma in 74.5% cases, with v. s. carcinoma without verification in 21% and with other malignancy not further analyzed here in 4.5% (mostly neuroendocrine tumor). In patients with generalized malignancy (n = 195), exploratory laparotomy was performed in 23% to get tissue samples or verify staging - palliative anastomoses were done in 25% of operated patients, CHT was performed in 29% of the generalized tumors, palliative RT of tumor was performed in 1 patient, and RT of metastases in 3 patients. In patients with local or regional nodal affection (n = 137) laparotomy was done in 59%, R0 resection in 34 (42%) of 81 operated, R1 in 6%, palliative anastomoses were done in 17% and irreversible electroporation in one patients, CHT or radiochemotherapy after R0 and R1 resections was provided in 61% operated patients. The most commonly used CHT was monotherapy with gemcitabine or FOLFIRINOX. The indication of CHT in cytology/histology verified generalized cancers and with excluding patients refusing CHT was proposed in 2012 to 16%, in 2014 to 49% and in 2016 to 84% of patients. In the case of a local or regional nodal involvement the CHT was proposed to 40, 55 and 86% of patients. Median overall survival in generalized tumor patients receiving CHT (n = 137) vs. not-receiving CHT (n = 56) was 2 vs. 8 months (p = 0.0001), and in the local or regional nodal involvement patients receiving CHT (n = 74) vs. not-receiving CHT (n = 62) was 5 vs. 16 months (p = 0.0001).
CHT and surgery are the dominant treatment modalities. There has been a marked increase in the CHT and histology/cytology verifications indications, with a major factor being a clinician evaluation of a patient to be fit for CHT and its benefit or to complete pancreatic tumor verification. With still very limited results in pancreatic cancer treatment, a careful assessment of each patients indication, respecting patients desire, is always required, knowing that even in the case of advanced disease, CHT can bring benefit, albeit limited.Key words: pancreas - carcinoma - chemotherapy The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. This study was supported by the grant of Ministry of Health of the Czech Republic - Conceptual Development of Research Organization (Faculty Hospital in Pilsen - FNPl, 00669806).Submitted: 13. 3. 2018Accepted: 18. 4. 2018.
Newborn rats were exposed to intermittent hypobaric hypoxia from birth until the age of 19 days. Spatial memory was tested in a Morris water maze from postnatal day (P) 23 to P32 and from P100 to ...P109. From P24 to P27 and on days P100 and P101, the escape latencies of hypoxic animals were longer than those of controls. At P24, the number of neuronal bodies increased in cortical layer II of the somatosensory, motor, and auditory areas, and in layer V of the motor area, but the number of neuronal bodies throughout the whole cortical thickness was unchanged. Decreases in the immunostaining density for neurofilaments (anti-NF 160), astrocytes (anti-GFAP), and oligodendrocytes (RIP) were found in the hippocampus, and the typical parallel organisation of neuronal and macroglial processes was lost. Decreases in immunostaining for neurofilaments and oligodendrocytes were also found in the somatosensory cortex and motor cortex. In adult hypoxic rats, at P114–P240, the number of neuronal bodies and the immunostaining density for neurofilaments, astrocytes, and oligodendrocytes in the examined areas were similar to adult controls; however, in the hippocampus we found hypertrophy of fine astrocytic processes and a decreased number of oligodendrocytic processes. We conclude that the neonatal brain damage induced by hypobaric hypoxia impairs spatial memory in infant as well as adult rats. Hypobaric hypoxia delays the maturation of neurones and substantially affects macroglia in the cortex and hippocampus.
Background
Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or ...functional evidence exists for a definite annotation.
Methods
To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved in EE or related phenotypes were followed up in 41 patients. We prioritized the candidate genes, and followed up 31 variants in this prioritized subset of candidate genes.
Results
Twenty‐nine genotypes in known genes for EE (19) or related diseases (10), dominant as well as recessive or X‐linked, were classified as likely pathogenic variants. Among those, likely pathogenic de novo variants were found in EE genes that act dominantly, including the recently identified genes EEF1A2, KCNB1 and the X‐linked gene IQSEC2. A de novo frameshift variant in candidate gene HNRNPU was the only de novo variant found among the followed‐up candidate genes, and the patient's phenotype was similar to a few recent publications.
Conclusion
Mutations in genes described in OMIM as, for example, intellectual disability gene can lead to phenotypes that get classified as EE in the clinic. We confirmed existing literature reports that de novo loss‐of‐function HNRNPUmutations lead to severe developmental delay and febrile seizures in the first year of life.
Genes that were previously reported to have been found mutated in patients with epileptic encephalopathy were tested in a new patient cohort. Probably pathogenic variants were found in known genes for epileptic encephalopathy and in genes for intellectual disability syndromes. A de novo variant in HNRNPU contributes to growing evidence for this gene.
We present results of analysis of overnight sleep video-EEG in 8 patients with developmental dysphasia and rolandic discharges. We evaluated the incidence of epileptiform discharges (expressed as ...paroxysmal activity density) at one or more electrodes in different sleep stages in three different periods of the night (after falling asleep, around midnight and before awakening). The difference of paroxysmal activity density was never higher than 21%, indicating that quantifying the discharges in the whole night recording is not necessary. We also showed that two independent foci may differ in the frequency of discharges. We propose a scheme for evaluation of EEG reflecting both frequency and distribution of discharges.
An information-theoretic approach suitable for studying synchronization phenomena in experimental time series has been applied in analysis of EEG recordings of epileptic patients. Transient phenomena ...leading to seizures have been characterized by increased synchronization (local and between areas) and asymmetry in information flow (the area of the epileptogenic focus drives and synchronizes adjacent areas). Although the results should be regarded as preliminary, they suggest that the method has a promising potential for localization of epileptic foci and anticipation of approaching seizures.
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