Effect of environment-friendly non-ionic surfactant on interfacial tension reduction and wettability alteration; Implications for enhanced oil recovery

© 2020 by the authors. Licensee MDPI, Basel, Switzerland. Production from mature oil reservoirs can be optimized by using the surfactant flooding technique. This can be achieved by reducing oil and water interfacial tension (IFT) and modifying wettability to hydrophilic conditions. In this study, a novel green non-ionic surfactant (dodecanoyl-glucosamine surfactant) was synthesized and used to modify the wettability of carbonate reservoirs to hydrophilic conditions as well as to decrease the IFT of hydrophobic oil-water systems. The synthesized non-ionic surfactant was characterized by Fourier transform infrared spectroscopy (FTIR) and chemical shift nuclear magnetic resonance (HNMR) analyses. Further pH, turbidity, density, and conductivity were investigated to measure the critical micelle concentration (CMC) of surfactant solutions. The result shows that this surfactant alters wettability from 148.93° to 65.54° and IFT from 30 to 14 dynes/cm. Core-flooding results have shown that oil recovery was increased from 40% (by water flooding) to 59% (by surfactant flooding). In addition, it is identified that this novel non-ionic surfactant can be used in CO2 storage applications due to its ability to alter the hydrophobicity into hydrophilicity of the reservoir rocks

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families. Methods: We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form. Results: Sequence analysis of AGK revealed compound heterozygous or homozygous predicted loss-of-function mutations in all affected individuals. A total of eight different disease alleles were identified, of which six were novel, homozygous c.523_524delAT (p.Ile175Tyrfs*2), c.424-1G > A (splice site), c.409C > T (p.Arg137*) and c.877 + 3G > T (splice site), and compound heterozygous c.871C > T (p.Gln291*) and c.1035dup (p.Ile346Tyrfs*39). All patients displayed perinatal or early-onset cardiomyopathy and cataract, clinical features pathognomonic for Sengers syndrome. Other common findings included blood lactic acidosis and tachydyspnoea while nystagmus, eosinophilia and cervical meningocele were documented in only either one or two cases. Deficiency of the adenine nucleotide translocator was found in heart and skeletal muscle biopsies from two patients associated with respiratory chain complex I deficiency. In contrast to previous findings, mitochondrial DNA content was normal in both tissues. Conclusion: We compare our findings to those in 21 previously reported AGK mutation-positive Sengers patients, confirming that Sengers syndrome is a clinically recognisable disorder of mitochondrial energy metabolism

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan. The interdisciplinary gene discovery team includes clinical, computational, and experimental biomedical specialists who interact to identify the genetic etiology of the disease, and when so warranted, to devise improved or novel treatments for affected patients. This program effectively integrates the clinical and research missions of an academic medical center and affords both diagnostic and therapeutic options for patients suffering from genetic disease. It may therefore be germane to other academic medical institutions engaged in implementing genomic medicine programs

Mechanisms of congenital heart disease caused by NAA15 haploinsufficiency

Rationale: NAA15 is a component of the N-terminal (Nt) acetyltransferase complex, NatA. The mechanism by which NAA15 haploinsufficiency causes congenital heart disease (CHD) remains unknown. To better understand molecular processes by which NAA15 haploinsufficiency perturbs cardiac development, we introduced NAA15 variants into human induced pluripotent stem cells (iPSCs) and assessed the consequences of these mutations on RNA and protein expression. Objective: We aim to understand the role of NAA15 haploinsufficiency in cardiac development by investigating proteomic effects on NatA complex activity, and identifying proteins dependent upon a full amount of NAA15. Methods and Results: We introduced heterozygous LoF, compound heterozygous and missense residues (R276W) in iPS cells using CRISPR/Cas9. Haploinsufficient NAA15 iPS cells differentiate into cardiomyocytes, unlike NAA15-null iPS cells, presumably due to altered composition of NatA. Mass spectrometry (MS) analyses reveal ~80% of identified iPS cell NatA targeted proteins displayed partial or complete Nt-acetylation. Between null and haploinsufficient NAA15 cells Nt-acetylation levels of 32 and 9 NatA-specific targeted proteins were reduced, respectively. Similar acetylation loss in few proteins occurred in NAA15 R276W iPSCs. In addition, steady-state protein levels of 562 proteins were altered in both null and haploinsufficient NAA15 cells; eighteen were ribosomal-associated proteins. At least four proteins were encoded by genes known to cause autosomal dominant CHD. Conclusions: These studies define a set of human proteins that requires a full NAA15 complement for normal synthesis and development. A 50% reduction in the amount of NAA15 alters levels of at least 562 proteins and Nt-acetylation of only 9 proteins. One or more modulated proteins are likely responsible for NAA15-haploinsufficiency mediated CHD. Additionally, genetically engineered iPS cells provide a platform for evaluating the consequences of amino acid sequence variants of unknown significance on NAA15 function

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Introduction: Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined. Methods and Results: We analyzed clinical manifestations of damaging biallelic ALPK3 variants in 19 pediatric patients, including nine previously published cases. Among these, 11 loss-of-function (LoF) variants, seven compound LoF and deleterious missense variants, and one homozygous deleterious missense variant were identified. Among 18 live-born patients, 8 exhibited neonatal dilated cardiomyopathy (44.4%; 95% CI: 21.5%-69.2%) that subsequently transitioned into ventricular hypertrophy. The majority of patients had extracardiac phenotypes, including contractures, scoliosis, cleft palate, and facial dysmorphisms. We observed no association between variant type or location, disease severity, and/or extracardiac manifestations. Myocardial histopathology showed focal cardiomyocyte hypertrophy, subendocardial fibroelastosis in patients under 4 years of age, and myofibrillar disarray in adults. Rare heterozygous ALPK3 variants were also assessed in adult-onset cardiomyopathy patients. Among 1548 Dutch patients referred for initial genetic analyses, we identified 39 individuals with rare heterozygous ALPK3 variants (2.5%; 95% CI: 1.8%-3.4%), including 26 missense and 10 LoF variants. Among 149 U.S. patients without pathogenic variants in 83 cardiomyopathy-related genes, we identified six missense and nine LoF ALPK3 variants (10.1%; 95% CI: 5.7%-16.1%). LoF ALPK3 variants were increased in comparison to matched controls (Dutch cohort, P = 1.6×10−5; U.S. cohort, P = 2.2×10−13). Conclusion: Biallelic damaging ALPK3 variants cause pediatric cardiomyopathy manifested by DCM transitioning to hypertrophy, often with poor contractile function. Additional extracardiac features occur in most patients, including musculoskeletal abnormalities and cleft palate. Heterozygous LoF ALPK3 variants are enriched in adults with cardiomyopathy and may contribute to their cardiomyopathy. Adults with ALPK3 LoF variants therefore warrant evaluations for cardiomyopathy

Collection, identification of Iranian fish parasites for “Iranian parasitology Museum”

Abstract: Identification and classification of aquatic parasites are more important by the day. Aquaculture development are faced with parasites previously "not pathogenic in normal conditions, but under certain conditions bacame diseases and have caused heavy losses to the aquaculture farms. The results of these studies recognize the importance of parasites in fish production has clear economic value. Before any action for economic aquatic breeding the parasites that can infect the fish have been identified and methods of control will be drawn. The current project is a part (the fishes) of the project Parasitology Museum in the Faculty of Veterinary medicine of Tehran University. In the first phase of the project, it was planned the fish parasites from different regions of the country were collected and the Iranian Fish Parasites Data Base has also set up. Required experts and various specialties were organized for implementation an recognation of the collected parasitese. The province executive and coordination necessary and the methods of sampling were discussed after a day of training workshop was held at the Faculty of Veterinary medicine of Tehran University. Due to the lack of funds needed to coordinate the implementation, it was conducted that the parasite specimens collected from other projects. In the first phase of projects 261 parasites various have been sent. Collected samples received a temporary code and announced. In the laboratory the specimens categoried and the shape designed and finally the consultants send the final identification of the parasites. Posted parasites according to the latest international standards are maintained. Each parasite has a unique code that represents the name of the sender, verification of the final consultant, host and fishing region. Simultaneously, reported fish parasites from 1327 AD (1949 AD) were collected to create a database, they classified to be placed on the site inPersian and English. Fish parasites that have been reported are available in four types: final report of the research projects conducted at research centers and universities, student theses, abstracts published in scientific conferences and finally "published in national and international research journals. “Iranian fish parasitesd database” included: Founders and Pioneers Monument, Iranian fish parasite fauna, History, Search, Resources, Executive Committee, links, News. Researchers can search through the five “key words”: the name of the parasite, the parasite class branch, region or provincial fishing, infected of host organ. After achieving the desired list of parasites, descriptions, and specifications can be observe. The resource section lists some of the articles published and will be visible as a “pdf”

Cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia in middle-income countries

Background: Adenovirus-based COVID-19 vaccines are extensively used in low- and middle-income countries (LMICs). Remarkably, cases of cerebral venous sinus thrombosis due to vaccine-induced immune thrombotic thrombocytopenia (CVST-VITT) have rarely been reported from LMICs. Aims: We studied the frequency, manifestations, treatment, and outcomes of CVST-VITT in LMICs. Methods: We report data from an international registry on CVST after COVID-19 vaccination. VITT was classified according to the Pavord criteria. We compared CVST-VITT cases from LMICs to cases from high-income countries (HICs). Results: Until August 2022, 228 CVST cases were reported, of which 63 were from LMICs (all middle-income countries [MICs]: Brazil, China, India, Iran, Mexico, Pakistan, Turkey). Of these 63, 32 (51%) met the VITT criteria, compared to 103 of 165 (62%) from HICs. Only 5 of the 32 (16%) CVST-VITT cases from MICs had definite VITT, mostly because anti-platelet factor 4 antibodies were often not tested. The median age was 26 (interquartile range [IQR] 20–37) versus 47 (IQR 32–58) years, and the proportion of women was 25 of 32 (78%) versus 77 of 103 (75%) in MICs versus HICs, respectively. Patients from MICs were diagnosed later than patients from HICs (1/32 [3%] vs. 65/103 [63%] diagnosed before May 2021). Clinical manifestations, including intracranial hemorrhage, were largely similar as was intravenous immunoglobulin use. In-hospital mortality was lower in MICs (7/31 [23%, 95% confidence interval (CI) 11–40]) than in HICs (44/102 [43%, 95% CI 34–53], p = 0.039). Conclusions: The number of CVST-VITT cases reported from LMICs was small despite the widespread use of adenoviral vaccines. Clinical manifestations and treatment of CVST-VITT cases were largely similar in MICs and HICs, while mortality was lower in patients from MICs.</p

Three-decade assessment of dry and wet spells change across Iran, a fingerprint of climate change

Abstract Extended periods of hydro-climate extremes with excessive or scarce rainfall associated with high or low temperatures have resulted in an imbalanced water cycle and inefficient socio-economic systems in several regions of Iran. However, there is a lack of comprehensive investigations on short-term to long-term variations in timing, duration, and temperature of wet/dry spells. This study bridges the current gap through a comprehensive statistical analysis of historical climatic data (1959–2018). Results indicated that the negative tendency of the accumulated rainfall (− 0.16/ − 0.35 mm/year during the past 60/30 years) in 2- to 6-day wet spells had made significant contributions to the ongoing downward trend in annual rainfall (− 0.5/ − 1.5 mm/year during the past 60/30 years) owing to a warmer climate condition. Warmer wet spells are likely responsible for precipitation patterns changes in snow-dominated stations since their wet spells temperature has more than threefold growth with increasing distance to coasts. The most detected trends in climatic patterns have started in the last two decades and become more severe from 2009 to 2018. Our results confirm the alteration of precipitation features across Iran due to anthropogenic climatic change, and suggest expected increase in air temperature would likely result in further dry and warm conditions over the coming decades