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1.
Appl Microbiol Biotechnol ; 108(1): 167, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-38261012

RESUMO

As the problem of antimicrobial resistance is constantly increasing, there is a renewed interest in antimicrobial products derived from natural sources, particularly obtained from innovative and eco-friendly materials. Insect lipids, due to their fatty acid composition, can be classified as natural antimicrobial compounds. In order to assess the antibacterial efficacy of Hermetia illucens lipids, we extracted this component from the larval stage, fed on different substrates and we characterized it. Moreover, we analyzed the fatty acid composition of the feeding substrate, to determine if and how it could affect the antimicrobial activity of the lipid component. The antimicrobial activity was evaluated against Gram-positive Micrococcus flavus and Gram-negative bacteria Escherichia coli. Analyzing the fatty acid profiles of larval lipids that showed activity against the two bacterial strains, we detected significant differences for C4:0, C10:0, C16:1, C18:3 n3 (ALA), and C20:1. The strongest antimicrobial activity was verified against Micrococcus flavus by lipids extracted from larvae reared on strawberry, tangerine, and fresh manure substrates, with growth inhibition zones ranged from 1.38 to 1.51 mm, while only the rearing on manure showed the effect against Escherichia coli. Notably, the fatty acid profile of H. illucens seems to not be really influenced by the substrate fatty acid profile, except for C18:0 and C18:2 CIS n6 (LA). This implies that other factors, such as the rearing conditions, larval development stages, and other nutrients such as carbohydrates, affect the amount of fatty acids in insects. KEY POINTS: • Feeding substrates influence larval lipids and fatty acids (FA) • Generally, there is no direct correlation between substrate FAs and the same larvae FAs • Specific FAs influence more the antimicrobial effect of BSF lipids.


Assuntos
Dípteros , Esterco , Micrococcus , Animais , Larva , Escherichia coli , Ácidos Graxos , Micrococcus luteus
2.
Ann Bot ; 133(3): 427-434, 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38141228

RESUMO

BACKGROUND AND AIMS: Organelle genomes are usually maternally inherited in angiosperms. However, biparental inheritance has been observed, especially in hybrids resulting from crosses between divergent genetic lineages. When it concerns the plastid genome, this exceptional mode of inheritance might rescue inter-lineage hybrids suffering from plastid-nuclear incompatibilities. Genetically differentiated lineages of Silene nutans exhibit strong postzygotic isolation owing to plastid-nuclear incompatibilities, highlighted by inter-lineage hybrid chlorosis and mortality. Surviving hybrids can exhibit variegated leaves, which might indicate paternal leakage of the plastid genome. We tested whether the surviving hybrids inherited the paternal plastid genome and survived thanks to paternal leakage. METHODS: We characterized the leaf phenotype (fully green, variegated or white) of 504 surviving inter-lineage hybrids obtained from a reciprocal cross experiment among populations of four genetic lineages (W1, W2, W3 and E1) of S. nutans from Western Europe and genotyped 560 leaf samples (both green and white leaves for variegated hybrids) using six lineage-specific plastid single nucleotide polymorphisms. KEY RESULTS: A high proportion of the surviving hybrids (≤98 %) inherited the paternal plastid genome, indicating paternal leakage. The level of paternal leakage depended on cross type and cross direction. The E1 and W2 lineages as maternal lineages led to the highest hybrid mortality and to the highest paternal leakage from W1 and W3 lineages in the few surviving hybrids. This was consistent with E1 and W2 lineages, which contained the most divergent plastid genomes. When W3 was the mother, more hybrids survived, and no paternal leakage was detected. CONCLUSIONS: By providing a plastid genome potentially more compatible with the hybrid nuclear background, paternal leakage has the potential to rescue inter-lineage hybrids from plastid-nuclear incompatibilities. This phenomenon might slow down the speciation process, provided hybrid survival and reproduction can occur in the wild.


Assuntos
Magnoliopsida , Silene , Silene/genética , Plastídeos/genética , Genótipo , Padrões de Herança , Magnoliopsida/genética
3.
Z Gerontol Geriatr ; 2023 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-37674060

RESUMO

BACKGROUND: Actors from the community (CAs) play a fundamental role in the support of caring relatives (CRs) of people with dementia (PWD). As their support is not sufficient, the implementation of support services needs to be optimized; however, little is known about the factors associated with the implementation behavior of CAs. AIM: This study aimed to investigate the association of person-related factors with the implementation behavior of CAs. METHODS: In a cross-sectional study, 205 CAs from 16 German communities were surveyed with the community implementation behaviour questionnaire (CIBQ), which is based on the theoretical domains framework. Logistic regression analyses were conducted to identify person-related factors associated with the implementation behavior regarding support services for CRs of PWD. RESULTS: Implementing support services for CRs of PWD is positively and significantly (p < 0.001) associated with the agreement of CAs with the CIBQ domains. Higher scores in the CIBQ increase the chance that CAs implemented support services for the target group. CONCLUSION: The CIBQ is a tool to determine the status of implementation behavior of communities. This enables an analysis of the areas CAs need to work on in order to optimize the implementation of support services for CRs of PWD or other health and care-related topics.

4.
New Phytol ; 239(2): 766-777, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37212044

RESUMO

There is growing evidence that cytonuclear incompatibilities (i.e. disruption of cytonuclear coadaptation) might contribute to the speciation process. In a former study, we described the possible involvement of plastid-nuclear incompatibilities in the reproductive isolation between four lineages of Silene nutans (Caryophyllaceae). Because organellar genomes are usually cotransmitted, we assessed whether the mitochondrial genome could also be involved in the speciation process, knowing that the gynodioecious breeding system of S. nutans is expected to impact the evolutionary dynamics of this genome. Using hybrid capture and high-throughput DNA sequencing, we analyzed diversity patterns in the genic content of the organellar genomes in the four S. nutans lineages. Contrary to the plastid genome, which exhibited a large number of fixed substitutions between lineages, extensive sharing of polymorphisms between lineages was found in the mitochondrial genome. In addition, numerous recombination-like events were detected in the mitochondrial genome, loosening the linkage disequilibrium between the organellar genomes and leading to decoupled evolution. These results suggest that gynodioecy shaped mitochondrial diversity through balancing selection, maintaining ancestral polymorphism and, thus, limiting the involvement of the mitochondrial genome in evolution of hybrid inviability between S. nutans lineages.


Assuntos
Genoma Mitocondrial , Silene , Silene/genética , Melhoramento Vegetal , Núcleo Celular/genética , Mitocôndrias/genética , Genoma Mitocondrial/genética , Evolução Molecular , Filogenia
5.
Insect Sci ; 30(4): 991-1010, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36433821

RESUMO

Bioconversion is a biological process by which organic materials are converted into products with higher biological and commercial value. During its larval stage the black soldier fly Hermetia illucens is extremely voracious and can feed on a wide variety of organic materials. To study the impact of different fruit byproducts on the insect's growth, final larval biomass, substrate reduction, bioconversion parameters, and larval nutritional composition, 10 000 black soldier fly larvae (BSFL) were reared on 7.0 kg of one of three substrates (strawberry, tangerine, or orange) or on a standard diet as a control. The results highlight that BSFL can successfully feed and grow on each of these diets, though their development time, growth rate, and final biomass were differently impacted by the substrates, with strawberry being the most suitable. The lipid and protein contents of BSFL were similar among larvae fed on different substrates; however, major differences were detected in ash, micronutrient, fiber, fatty acid, and amino acid contents. Overall, the results indicate that fruit waste management through the BSFL bioconversion process represents a commercially promising resource for regional and national agrifood companies. Our study offers new perspectives for sustainable and environmentally friendly industrial development by which fruit byproducts or waste might be disposed of or unconventionally enhanced to create secondary products of high biological and economic value, including BSFL biomass as animal feed or, in perspective, as alternative protein source for human nutrition.


Assuntos
Dípteros , Humanos , Animais , Frutas , Larva , Dieta , Ração Animal/análise
6.
Artigo em Inglês | MEDLINE | ID: mdl-36498271

RESUMO

The Theoretical Domains Framework (TDF) investigates the determinants influencing the implementation behaviour of actors in healthcare. Caring for people with dementia (PWD) can be burdensome. Therefore, caring relatives (CRs) often rely on support of various actors in their community (CAs). However, the support of this target group is not sufficient, and the implementation of support services needs to be optimised. As it stands, there is no German-language questionnaire to investigate the factors that influence the implementation behaviour of CAs. Therefore, based on the TDF, the Community Implementation Behaviour Questionnaire (CIBQ) was developed in this study. A total of 205 CAs from 16 German communities were surveyed. The 34-item CIBQ asked about their implementation behaviour regarding support services for CRs of PWD. To identify the best model fit, the internal consistency and construct validity were computed. After adaptation, the final CIBQ consisted of ten domains and thirty-one items. The psychometric properties of the questionnaire are as follows: CMIN/DF = 1.63; SRMR = 0.05; RMSEA = 0.07; CFI = 0.92; Cronbach's alpha 0.74-0.89; inter-item correlation 0.38-0.88. The initial results show satisfactory internal consistency and construct validity of the CIBQ. Using the CIBQ enables the health and care optimisation of CRs of PWD.


Assuntos
Demência , Idioma , Humanos , Reprodutibilidade dos Testes , Psicometria , Inquéritos e Questionários , Demência/terapia
7.
Z Gesundh Wiss ; : 1-11, 2022 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-35975189

RESUMO

Aim: Although caring relatives of people with dementia are a mainstay of many care systems, the availability of support services for them within the municipal community shows deficiencies. Adopting the Theoretical Domains Framework (TDF) this study aims to investigate 1) which of the TDF domains adapted to gerontology show up in public dialogue, and 2) the results that public dialogues produce in terms of support services for caring relatives. Subject and methods: The data consists of town hall meetings and focus groups from 14 municipal communities in Germany. Participants were caring relatives and stakeholders of the communities. A qualitative content analysis was conducted, focusing on the assessment of three TDF domains, namely knowledge, goals, and sociopolitical context as well as outcomes of care optimisation. Results: With regard to domain knowledge, it was evident that in every community there were actors aware of the situation and relevance of carers and their relatives. Only some actors mentioned goals for optimising the care of the target group. The sociopolitical context is often addressed through statements about incomplete requirements. Conclusion: Overall, a relation between the discussion about the domains in public dialogues and changes in supporting carers of people with dementia can be assumed. The results indicate that an increased discussion about the domains within town hall meetings influences the actors and their statements with regard to the improvement of support services for caring relatives of people with dementia. Since the domains were not developed exclusively for the outlined context, this approach can also be applied to other areas of care. Supplementary information: The online version contains supplementary material available at 10.1007/s10389-022-01744-w.

8.
Front Genet ; 13: 865490, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35783268

RESUMO

Black soldier fly (Hermetia illucens) farming has exponentially increased in recent years due to the ability of its larvae to efficiently convert low-grade organic materials into high-value food, feed, and technical products. There is a need to further improve the efficiency of production, to meet the rising demands for proteins in the feed and food industries under limited resources. One means of improvement is artificial selection, which has been widely applied in plants and in other livestock species. In 2019, a genetic improvement program was started with the aim to increase larval body weight in black soldier fly larvae. In this paper, we present the outcomes of this breeding program after 10, 13, and 16 generations of selection. The performance of the selected body weight line was compared to the base population line over six experimental rounds under different environmental conditions. Under automated production settings, an average increase of +39% in larval weight, +34% in wet crate yield, +26% in dry matter crate yield, +32% in crude protein per crate, and +21% crude fat per crate was achieved in the selected line compared to the base population line. This research demonstrates the potential contribution of artificial selection to improve efficiency when farming black soldier flies in industrial settings. Further research is needed to fully unlock that potential.

9.
J Alzheimers Dis ; 87(3): 981-990, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35431247

RESUMO

A growing number of people with dementia, a simultaneous decline of professional caregivers, and changing family structures clearly illustrate the societal relevance of the question of how dementia care can be arranged and delivered in the future. The demand for innovative solutions especially to support family carers requires a deeper insight into their life situation and a focused perception of their needs. This article presents the main hypothesis that specific forms of social integration and participation based on an equal dialogue between family caregivers, the public, and policymakers is needed to achieve that. Therefore, the main point here is to give family caregivers of people with dementia a voice to learn how to better support them in caring as well as self-care. A learning process triggered by a dialogue might result in a higher level of community readiness to implement new forms of support or social innovations. The hypothesis will be supported by John Dewey's theory of political and democratic learning and the model of transformative learning according to Jack Mezirow indicating that learning particularly succeeds in interpersonal communication. In this context, the Town-Hall Meeting method and its potential to promote interpersonal communication and reflexive learning is discussed. The article addresses an important debate, namely that of how dementia care and support of family carers can succeed. It also sets the direction for future empirical research as the Town-Hall Meeting method might be applicable for gerontological action and participatory research.


Assuntos
Cuidadores , Demência , Comunicação , Demência/terapia , Família , Serviços de Saúde , Humanos , Projetos de Pesquisa , Apoio Social
10.
Mol Phylogenet Evol ; 169: 107436, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35131426

RESUMO

Early stages of speciation in plants might involve genetic incompatibilities between plastid and nuclear genomes, leading to inter-lineage hybrid breakdown due to the disruption between co-adapted plastid and nuclear genes encoding subunits of the same plastid protein complexes. We tested this hypothesis in Silene nutans, a gynodioecious Caryophyllaceae, where four distinct genetic lineages exhibited strong reproductive isolation among each other, resulting in chlorotic or variegated hybrids. By sequencing the whole gene content of the four plastomes through gene capture, and a large part of the nuclear genes encoding plastid subunits from RNAseq data, we searched for non-synonymous substitutions fixed in each lineage on both genomes. Lineages of S. nutans exhibited a high level of dN/dS ratios for plastid and nuclear genes encoding most plastid complexes, with a strong pattern of coevolution for genes encoding the subunits of ribosome and cytochrome b6/f that could explain the chlorosis of hybrids. Overall, relaxation of selection due to past bottlenecks and positive selection have driven the diversity pattern observed in S. nutans plastid complexes, leading to plastid-nuclear incompatibilities. We discuss the possible role of gynodioecy in the evolutionary dynamics of the plastomes through linked selection.


Assuntos
Caryophyllaceae , Genomas de Plastídeos , Silene , Caryophyllaceae/genética , Evolução Molecular , Filogenia , Plastídeos/genética , Isolamento Reprodutivo , Silene/genética
11.
J Emerg Med ; 62(2): 264-274, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35016793

RESUMO

BACKGROUND: Political rhetoric from the former U.S. president influences Latinx adults' feelings of safety and their decisions to seek care in the emergency department (ED). OBJECTIVE: Our aim was to examine the impact of political rhetoric on feelings of safety and health care access in the pediatric population. METHODS: This was a cross-sectional study of undocumented Latinx families (ULF), Latinx U.S. citizen families (LCF), and non-Latinx U.S. citizen families (NLF) conducted from November 2018 through February 2020 by means of interviewing a convenience sample of parents and guardians who brought their child to a pediatric clinic and two EDs in California. RESULTS: Of 705 parents approached, 449 (63.7%) agreed to participate: 138 ULF, 150 LCF, and 158 NLF. Most ULF (95%), LCF (88%), and NLF (78%) parents and guardians had heard anti-immigrant statements from the former U.S. president and most (94% ULF, 90% LCF, 86% NLF) believed these measures against immigrants were being enacted or will be enacted. More ULF (75%, 95% confidence interval [CI] 67-81%) reported that these statements made them concerned about their child's safety in the United States compared with 36% (95% CI 28-45%) and 34% (95% CI 26-43%) of LCF and NLF, respectively. More ULF 17% (95% CI 11-24%) said that these statements made them afraid to bring their child for medical care, compared with 5% (95% CI 2-10%) and 3% (95% CI 1-7%) of LCF and NLF, respectively. CONCLUSIONS: Most parents heard statements against undocumented immigrants by the former U.S. president and most believed measures were being enacted. This rhetoric had a substantial negative impact on ULF parents in terms of safety concerns for their child and fear of accessing health care.


Assuntos
Emigrantes e Imigrantes , Imigrantes Indocumentados , Adulto , Criança , Estudos Transversais , Serviço Hospitalar de Emergência , Acessibilidade aos Serviços de Saúde , Humanos , Estados Unidos
12.
J Equine Vet Sci ; 108: 103801, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34839079

RESUMO

Among biotechnologies of reproduction in the equine species, artificial insemination remains the most used technology especially for cooled transported sperm. Although the use of INRA96 extender has demonstrated its efficiency for long-term sperm storage at 4°C or 15°C, some stallions ("bad coolers") are excluded from such technology. Some years ago, we demonstrated that liposomes produced from egg yolk (EY) phospholipids could be an alternative to egg yolk plasma in stallion freezing extenders. To develop a new extender for sperm chilling, we evaluated the protective effect of liposomes produced from EY phospholipids on stallion sperm storage at 4°C. The sperm of stallions from two studs was diluted in INRA96 extender (as control) or an experimental extender (EE) composed of INRA96 supplemented with liposomes of EY phospholipids. After 24H (D1), 72H (D3), and 6 days (D6) or 7 days (D7), motility parameters were evaluated using Computer Assisted Semen Analyzer. Our results demonstrated that total and progressive motility decreased significantly after dilution and storage in INRA96 between D1 and D3 (P < .05) while no significant decrease was observed between D1 and D3 with EE. Regarding VAP parameter, no significant difference was observed between extenders except at D7 in stud 2. Moreover, total and progressive motility were maintained at a significantly higher level (D3, D6, D7) when sperm was stored in EE compared to INRA96. These promising results demonstrate that the supplementation of INRA96 extender with egg-yolk phospholipids liposomes allows a higher protection to stallion sperm cells.


Assuntos
Preservação do Sêmen , Animais , Suplementos Nutricionais , Cavalos , Lipossomos , Masculino , Fosfolipídeos , Preservação do Sêmen/veterinária , Motilidade dos Espermatozoides , Espermatozoides
13.
Molecules ; 26(6)2021 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-33805599

RESUMO

Marine feed ingredients derived from cephalopods (e.g., squid) and crustaceans (e.g., krill) are commercially used to improve the palatability of shrimp diets. Increase in global demand for shrimps has resulted in overfishing of these marine organisms and is a matter of concern. Insect protein hydrolysate could be a sustainable alternative for the possible replacement of these marine feed ingredients. During this study, four formulations: diet A (control: not containing any palatability enhancer), diet B (containing squid meal and krill oil), diet C (containing 1% insect protein hydrolysate), and diet D (containing 2% insect protein hydrolysate) were tested for (1) time required by first subject to begin feeding (time to strike) and (2) palatability in Litopenaeus vannamei. Additionally, the chemical composition of all four diet formulations was also analyzed. Results indicate that all diets had similar crude composition. The major essential amino acids in all diets were leucine and lysine, whereas eicosapentaenoic acid was the major omega-3 fatty acid in all diets. There were no significant differences between the mean time to strike for all the tested formulations. Palatability of tested formulations was found in the following order: diet D > diet C > diet B = diet A (p < 0.05), indicating that addition of squid meal and krill oil has no effect on palatability in comparison to control, whereas inclusion of insect protein hydrolysates significantly improves the palatability of formulations. Palatability enhancement potential of insect protein hydrolysate could be attributed to the high free amino acid content and water solubility in comparison to squid meal.


Assuntos
Ração Animal/análise , Dípteros/química , Proteínas de Insetos/química , Penaeidae/fisiologia , Aminoácidos Essenciais/análise , Animais , Aquicultura/métodos , Proteínas de Artrópodes/química , Conservação dos Recursos Naturais , Decapodiformes/química , Dieta , Proteínas Alimentares/química , Euphausiacea/química , Preferências Alimentares , Humanos , Larva/química , Penaeidae/crescimento & desenvolvimento , Hidrolisados de Proteína/química , Solubilidade
14.
Mol Genet Metab Rep ; 26: 100706, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33489762

RESUMO

Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel based on massively parallel sequencing (MPS) in 10 individuals with clinical or pedigree-based evidence of a proximal UCD but without a molecular confirmation of the diagnosis. We identified causal variant(s) in 5 of 10 individuals, including in 3 of 7 individuals in whom prior molecular testing was unrevealing. We show that a deep-intronic pathogenic variant in OTC, c.540+265G>A, is an important cause of ornithine transcarbamylase (OTC) deficiency.

15.
Sex Abuse ; 33(3): 274-294, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31822196

RESUMO

This study explores the extent of sexual abuse of minors by members of the Catholic Church in Germany. It is the first comprehensive study to examine this extent in a European country. The goals of this study are as follows: (a) to analyze whether the extent and characteristics of sexual abuse in a European country are comparable to those in the United States and Australia and (b) how discrepancies can be explained. The personnel files of 38,156 Catholic Priests, deacons, and male members of religious orders in the authority of the German Bishops' Conference were analyzed. The study period lasted from 1946 to 2014. All 27 German dioceses took part in this study. A total of 4.4% of all clerics (N = 1,670) from 1946 to 2014 were alleged to have committed sexual abuse, and 3,677 children or adolescents were identified as victims. These results are similar to those from comparable studies in the United States. Sexual abuse of minors within the authority of the Catholic Church seems to be a worldwide phenomenon.


Assuntos
Catolicismo , Abuso Sexual na Infância/estatística & dados numéricos , Clero/estatística & dados numéricos , Registros , Adolescente , Adulto , Idoso , Criança , Vítimas de Crime/estatística & dados numéricos , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários
16.
Insects ; 13(1)2021 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-35055884

RESUMO

Insects, the most varied group of known organisms on Earth, are arousing great interest also for the possibility to use them as a feed and food source. The mass rearing of some species, defined as "bioconverters", is spreading worldwide, thanks to their sustainability. At the end of the bioconversion process, breeders obtain eco-friendly biomolecules of high biological and economic value, including proteins and lipids, from larvae of bioconverter insects, in particular Hermetia illucens. Besides the most classical use of insect lipids as food additives, they are also used in the formulation of several products for personal care. The composition of insect lipids depends on the substrate on which the insects are reared but also on the insect species, so the cosmetic producers should consider these features to choose their insect starting point. The most abundant fatty acids detected in H. illucens are lauric, myristic, palmitic, and oleic acids, regardless of feed substrate; its fatty acids composition is favorable for soap composition, while their derivatives are used for detergent and shampoo. Here, we offer an overview of insect lipids, their extraction methods, and their application in cosmetics and personal care products.

17.
Hum Mutat ; 41(10): 1783-1796, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32652755

RESUMO

Interpretation of mitochondrial protein-encoding (mt-mRNA) variants has been challenging due to mitochondrial characteristics that have not been addressed by American College of Medical Genetics and Genomics guidelines. We developed criteria for the interpretation of mt-mRNA variants via literature review of reported variants, tested and refined these criteria by using our new cases, followed by interpreting 421 novel variants in our clinical database using these verified criteria. A total of 32 of 56 previously reported pathogenic (P) variants had convincing evidence for pathogenicity. These variants are either null variants, well-known disease-causing variants, or have robust functional data or strong phenotypic correlation with heteroplasmy levels. Based on our criteria, 65.7% (730/1,111) of variants of unknown significance (VUS) were reclassified as benign (B) or likely benign (LB), and one variant was scored as likely pathogenic (LP). Furthermore, using our criteria we classified 2, 12, and 23 as P, LP, and LB, respectively, among 421 novel variants. The remaining stayed as VUS (91.2%). Appropriate interpretation of mt-mRNA variants is the basis for clinical diagnosis and genetic counseling. Mutation type, heteroplasmy levels in different tissues of the probands and matrilineal relatives, in silico predictions, population data, as well as functional studies are key points for pathogenicity assessments.


Assuntos
Predisposição Genética para Doença , Genômica , Aconselhamento Genético , Humanos , Mutação , RNA Mensageiro/genética , Estados Unidos
18.
Genet Med ; 22(10): 1633-1641, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32576985

RESUMO

PURPOSE: Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to autosomal recessive (AR) conditions may be better recognized using a large clinical cohort. METHODS: We retrospectively investigated the CNVs' contribution to AR conditions in cases subjected to chromosomal microarray analysis (CMA, N = ~70,000) and/or clinical exome sequencing (ES, N = ~12,000) at Baylor Genetics; most had pediatric onset neurodevelopmental disorders. RESULTS: CNVs contributed to biallelic variations in 87 cases, including 81 singletons and three affected sibling pairs. Seventy cases had CNVs affecting both alleles, and 17 had a CNV and a single-nucleotide variant (SNV)/indel in trans. In total, 94.3% of AR-CNVs affected one gene; among these 41.4% were single-exon and 35.0% were multiexon partial-gene events. Sixty-nine percent of homozygous AR-CNVs were embedded in homozygous genomic intervals. Five cases had large deletions unmasking an SNV/indel on the intact allele for a recessive condition, resulting in multiple molecular diagnoses. CONCLUSIONS: AR-CNVs are often smaller in size, transmitted through generations, and underrecognized due to limitations in clinical CNV detection methods. Our findings from a large clinical cohort emphasized integrated CNV and SNV/indel analyses for precise clinical and molecular diagnosis especially in the context of genomic disorders.


Assuntos
Variações do Número de Cópias de DNA , Mutação INDEL , Criança , Variações do Número de Cópias de DNA/genética , Éxons , Humanos , Estudos Retrospectivos , Sequenciamento do Exoma
19.
Waste Manag ; 112: 40-51, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32497900

RESUMO

Black soldier fly larvae treatment is an emerging technology for the conversion of biowaste into potentially more sustainable and marketable high-value products, according to circular economy principles. Unknown or variable performance for different biowastes is currently one challenge that prohibits the global technology up-scaling. This study describes simulated midgut digestion for black soldier fly larvae to estimate biowaste conversion performance. Before simulation, the unknown biowaste residence time in the three midgut regions was determined on three diets varying in protein and non-fiber carbohydrate content. For the static in vitro model, diet residence times of 15 min, 45 min, and 90 min were used for the anterior, middle, and posterior midgut region, respectively. The model was validated by comparing the ranking of diets based on in vitro digestion products to the ranking found in in vivo feeding experiments. Four artificial diets and five biowastes were digested using the model, and diet digestibility and supernatant nutrient contents were determined. This approach was able to distinguish broadly the worst and best performing rearing diets. However, for some of the diets, the performance estimated based on in vitro results did not match with the results of the feeding experiments. Future studies should try to establish a stronger correlation by considering fly larvae nutrient requirements, hemicellulose digestion, and the diet/gut microbiota. In vitro digestion models could be a powerful tool for academia and industry to increase conversion performance of biowastes with black soldier fly larvae.


Assuntos
Dípteros , Simuliidae , Animais , Carboidratos , Cor , Dieta , Larva
20.
Animals (Basel) ; 10(6)2020 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-32485877

RESUMO

European legislation permits the inclusion of insect proteins in pet and aquaculture diets. Black soldier fly larvae (BSF) are one of the most actively produced species due to their low environmental impact and nutritional characteristics. BSF protein derivatives (proteins and protein hydrolysates) contain a substantial amount of low molecular weight peptides that are known to possess antioxidant potential. In this study, the in vitro antioxidant potential of commercial BSF proteins and protein hydrolysates was investigated for (1) radical scavenging activity, (2) myeloperoxidase activity modulation, and (3) neutrophil response modulation. Chickenmeal and fishmeal are commonly used in pet food and aquaculture formulations. Hence, both were used as industrial benchmarks during this study. The results indicate that fishmeal and chickenmeal are ineffective at suppressing the oxidative damage caused by neutrophil response and myeloperoxidase activity. Fishmeal and chickenmeal even exhibit pro-oxidant behavior in some of the models used during this study. On the other hand, it was found that BSF protein derivatives could be effective in protecting against the cellular damage resulting from neutrophil and myeloperoxidase activities. The outcomes of this study indicate that BSF protein derivatives could be potentially included in pet food and aquaculture feed formulations as health-promoting ingredients.

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