Technology development of obtaining essential fatty acids from hydrobionts hydrolyzates

Articleɷ-3, 6-fatty acids from hydrobiontsare a minor component in the nutrition of European countries population. This causes a number of diseases, such as cardiovascular ones, cancer etc. There is a task of concentrating these acids in oil due to the fact that to meet their daily needs it is problematic to use large quantities of fish oil-from 15 to 20 g. Particularly rich in ɷ-3, 6-acids are wastes from the cutting of hydrobionts, containing muscle tissue and skin. Protein hydrolysates were obtained from rainbow trout (Oncorhynchusmykiss) and Atlantic herring (Clupeaharengus) wastes by the electrochemical method using electrolyzers of the original design which are allowed to be used in food industry. A technological scheme of separating of lipids from protein hydrolyzates has been developed and experimental batches of oil samples have been developed. To concentrate the fatty acids the cryoconcentration method was used. The phase transitions of the obtained lipids were studied after their cryoconcentration in the temperature range from + 15 °C to minus 40 °C in the environment of calcium chloride using a low-temperature refrigeration unit. To analyze phase transitions the plant was used, which is a container with a solution of calcium chloride cooled by a low-temperature refrigeration machine. The properties of 5 fractions of lipids formed at the time of lipid phase transitions have been identified and studied (the fractional composition, acid, iodine numbers, the content of polyunsaturated fatty acids (PUFAs), vitamin D3 and A). It was established that as cryoconcentration increases the concentration of PUFAs, reaching values close to 90%, which allows the resulting product to be attributed to biologically active food additives (BAA). By calculation, it was shown that to create functional food products on fish base from fish of the Gadidae family it is enough to inject 4 grams of BAA to 100 grams of the product. Organoleptic properties of food products from low-fat fish species were improved

Obtention of omega-3-fatty acids cryoconcentrated fish oil from by-products of preserves industry

Received: February 24th, 2021 ; Accepted: May 2nd, 2021 ; Published: May 19th, 2021 ; Correspondence: [email protected] technology for obtaining and cryoconcentration of high-quality fish oil from collagen-containing wastes of slightly salted herring under gentle conditions using electrochemically obtained catholytes has been developed. Physicochemical analysis of raw materials was carried out and the yields of products from raw materials at all stages of processing were determined. Concentration of omega-3 fatty acids in oil was carried out using the cryo method. The main phase transitions in oil with decreasing temperature have been determined. The mass yields were determined and the biochemical composition of the cryoconcentrated fish oil fractions was investigated. It was defined the temperature of -14° С at which a phase transition is observed, providing an increase in the concentration of omega-3 fatty acids in oil by 3 times. The usage of cryoconcentrated fish oil allows to produce biologically active food supplement or raw materials for a functional food

Surface Tension of Seawater

New measurements and a reference correlation for the surface tension of seawater at atmospheric pressure are presented in this paper. Surface tension of seawater was measured across a salinity range of 20 ⩽ S ⩽ 131 g/kg and a temperature range of 1 ⩽ t ⩽ 92 °C at atmospheric pressure using the Wilhelmy plate method. The uncertainty within measurements varied from 0.18 to 0.37 mN/m with the average uncertainty being 0.22 mN/m. The experimental procedures were validated with tests conducted on ACS reagent grade water and aqueous sodium chloride solutions. Literature data and present measurements were evaluated and a reference correlation was developed expressing surface tension of seawater as a function of temperature and salinity. The average absolute percentage deviation between measurements and the correlation was 0.19% while the maximum deviation was 0.60%.Center for Clean Water and Clean Energy at MIT and KFUPM (Project R13-CW-10

ВОЗМОЖНОСТИ ОПТИМИЗАЦИИ МИНИДОСТУПА В ГРУДНОЙ ХИРУРГИИ

The results of minimal access surgery in patients with benign tumors and lung bullae and also with mediastinal lymphadenopathy are presented. On the front and axial CT slices the possibility of accurate preoperative localization of mini-thoracotomy on intercostal space and conventional chest lines was demonstrated by simple calculations as well as the optimization of its length depending on the depth of the pathological focus. The developed method has allowed to reduce the length of the cut, to reduce the time of operation and the time of introduction of analgesics in the postoperative period.Представлены результаты оперативного вмешательства из минидоступа у пациентов с доброкачественными опухолями и буллами лёгких, а также лимфаденопатией средостения. На фронтальных и аксиальных компьютерно-томографических срезах с помощью несложных расчётов показана возможность точной дооперационной локализации миниторакотомии по межреберью и условным линиям грудной клетки, а также оптимизации её длины, в зависимости от глубины расположения патологического очага. Разработанная методика позволила уменьшить длину разреза, сократить время операции и сроки введения анальгетиков в послеоперационном периоде.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for similar to 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic lateral sclerosis cases (21 of Sardinian ancestry) and 41 German index familial amyotrophic lateral sclerosis cases. Pathogenic repeat expansions were detected in 45 (37.5%) patients from mainland Italy, 12 (57.1%) patients of Sardinian ancestry and nine (22.0%) of the 41 German index familial amyotrophic lateral sclerosis cases. The disease was maternally transmitted in 27 (49.1%) pedigrees and paternally transmitted in 28 (50.9%) pedigrees (P = non-significant). On average, children developed disease 7.0 years earlier than their parents [children: 55.8 years (standard deviation 7.9), parents: 62.8 (standard deviation 10.9); P = 0.003]. Parental phenotype influenced the type of clinical symptoms manifested by the child: of the 13 cases where the affected parent had an amyotrophic lateral sclerosis-frontotemporal dementia or frontotemporal dementia, the affected child also developed amyotrophic lateral sclerosis-frontotemporal dementia in nine cases. When compared with patients carrying mutations of other amyotrophic lateral sclerosis-related genes, those with C9ORF72 expansion had commonly a bulbar onset (42.2% compared with 25.0% among non-C9ORF72 expansion cases, P = 0.03) and cognitive impairment (46.7% compared with 9.1% among non-C9ORF72 expansion cases, P = 0.0001). Median survival from symptom onset among cases carrying C9ORF72 repeat expansion was 3.2 years lower than that of patients carrying TARDBP mutations (5.0 years; 95% confidence interval: 3.6-7.2) and longer than those with FUS mutations (1.9 years; 95% confidence interval: 1.7-2.1). We conclude that C9ORF72 hexanucleotide repeat expansions were the most frequent mutation in our large cohort of patients with familial amyotrophic lateral sclerosis of Italian, Sardinian and German ancestry. Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for similar to 60% of familial amyotrophic lateral sclerosis in Italy. Patients with C9ORF72 hexanucleotide repeat expansions present some phenotypic differences compared with patients with mutations of other genes or with unknown mutations, namely a high incidence of bulbar-onset disease and comorbidity with frontotemporal dementia. Their pedigrees typically display a high frequency of cases with pure frontotemporal dementia, widening the concept of familial amyotrophic lateral sclerosis

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective: To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members. Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. Results We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. Interpretation Here, we have developed a public resource () which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470-481Peer reviewe

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis

IMPORTANCE Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.MAIN OUTCOMES AND MEASURES De novo variants present only in the index case and not in unaffected family members.RESULTS Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p. Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.CONCLUSIONS AND RELEVANCE These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.Genetics of disease, diagnosis and treatmen