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1.
Am J Med Genet A ; 194(8): e63594, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38553895

RESUMO

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.


Assuntos
Síndrome de Goldenhar , Humanos , Feminino , Gravidez , Masculino , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/patologia , Alberta/epidemiologia , Diagnóstico Pré-Natal , Adulto , Recém-Nascido , Fenda Labial/epidemiologia , Fenda Labial/patologia , Fenda Labial/genética , Fenda Labial/diagnóstico , Fenda Labial/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/diagnóstico
2.
Molecules ; 29(9)2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38731439

RESUMO

The production of peanut oil in the industrial sector necessitates the utilization of diverse raw materials to generate consistent batches with stable flavor profiles, thereby leading to an increased focus on understanding the correlation between raw materials and flavor characteristics. In this study, sensory evaluations, headspace solid-phase micro-extraction gas chromatography mass spectrometry (HS-SPME-GC-MS), odor activity value (OAV) calculations, and correlation analysis were employed to investigate the flavors and main contributing amino acids of hot-pressed oils derived from different peanut varieties. The results confirmed that the levels of alcohols, aldehydes, and heterocyclic compounds in peanut oil varied among nine different peanut varieties under identical processing conditions. The OAVs of 25 key aroma compounds, such as methylthiol, 3-ethyl-2,5-dimethylpyrazine, and 2,3-glutarone, exceeded a value of 1. The sensory evaluations and flavor content analysis demonstrated that pyrazines significantly influenced the flavor profile of the peanut oil. The concentrations of 11 amino acids showed a strong correlation with the levels of pyrazines. Notably, phenylalanine, lysine, glutamic acid, arginine, and isoleucine demonstrated significant associations with both pyrazine and nut flavors. These findings will provide valuable insights for enhancing the sensory attributes of peanut oil and selecting optimal raw peanuts for its production.


Assuntos
Aminoácidos , Arachis , Cromatografia Gasosa-Espectrometria de Massas , Odorantes , Óleo de Amendoim , Aminoácidos/análise , Aminoácidos/química , Arachis/química , Odorantes/análise , Óleo de Amendoim/química , Compostos Orgânicos Voláteis/análise , Compostos Orgânicos Voláteis/química , Aromatizantes/química , Aromatizantes/análise , Pirazinas/química , Pirazinas/análise , Microextração em Fase Sólida , Paladar , Temperatura Alta
3.
J Pediatr ; 261: 113528, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37268037

RESUMO

OBJECTIVE: To report associated congenital anomalies with unexplained craniofacial microsomia (CFM) and the phenotypic overlap with other recurrent constellations of embryonic malformations (RCEM), and to assess prenatal and perinatal risk factors. STUDY DESIGN: This is a retrospective cross-sectional study. Cases with CFM, delivered between January 1, 1997, and December 31, 2019, were abstracted from the population-based Alberta Congenital Anomalies Surveillance System. Livebirths, stillbirths, and early fetal losses were reviewed to include all types of pregnancy outcomes along the spectrum of this condition. Prenatal and perinatal risk factors were compared with the Alberta birth population to assess differences between the 2 groups. RESULTS: There were 63 cases with CFM, yielding a frequency of 1 per 16 949. There was a high rate of cases (65%) with anomalies outside the craniofacial and vertebral regions. Congenital heart defects were the most common (33.3%). A single umbilical artery was found in 12.7% of cases. The twin/triplet rate of 12.7% was significantly higher than the Alberta rate of 3.3% (P < .0001). There was an overlap with a second RCEM condition in 9.5% of cases. CONCLUSIONS: Although CFM is primarily a craniofacial condition, the majority of cases have congenital anomalies affecting other systems requiring additional assessments, including an echocardiogram, renal ultrasound examination, and a complete vertebral radiograph. The high rate of an associated single umbilical artery raises the possibility of a related etiological mechanism. Our findings support the proposed concept of RCEM conditions.


Assuntos
Síndrome de Goldenhar , Artéria Umbilical Única , Feminino , Gravidez , Humanos , Estudos Retrospectivos , Alberta/epidemiologia , Estudos Transversais , Fatores de Risco
4.
Am J Med Genet A ; 188(5): 1515-1525, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35119197

RESUMO

A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. There is no consensus on which imaging studies should be used to rule out variable expressivity and distinguish "sporadic" from "familial" patients. This observational and descriptive study was performed in a Mexican population of 51 patients (32 males, 19 females, 0-18 years old) with microtia/OAVS, and their available parents. A clinical history, genealogy, and physical examination were obtained from all included patients, as were a computed tomography (CT) scan of the ear, audiological evaluation, orthopantomography, complete spine radiography, and renal ultrasound. The same approach was completed in their available parents (51 mothers and 40 fathers), excluding the CT scan and audiological evaluation. By genealogy, 53% of patients were classified as "sporadic"; of the "familial" patients, at least 79.1% had suggestion of a multifactorial inheritance. In the available parents, orthopantomography, complete spine X-ray, and renal ultrasound identified the following OAVS-related manifestations: HH (16.2%, n = 14/86), vertebral alterations (10.9%, n = 10/91), and renal anomalies (2.2%, n = 2/90). Our evaluation of the parents allowed three patients to be reclassified from "sporadic" to "familial" (5.8%, n = 3/51). Our proposed clinical and imaging approach allowed the identification of variable expressivity that more clearly distinguished between "sporadic" and "familial" OAVS patients, which is of utmost importance in providing proper genetic counseling to these families.


Assuntos
Microtia Congênita , Síndrome de Goldenhar , Adolescente , Criança , Pré-Escolar , Feminino , Síndrome de Goldenhar/diagnóstico por imagem , Síndrome de Goldenhar/genética , Humanos , Lactente , Recém-Nascido , Masculino , México , Coluna Vertebral/diagnóstico por imagem , Tomografia Computadorizada por Raios X
5.
Molecules ; 27(8)2022 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-35458622

RESUMO

In order to rapidly and precisely identify the volatile compounds in Chinese chive (Allium tuberosum Rottler), seven key parameters of headspace solid-phase micro-extraction conditions (HS-SPME) from Chinese chive were optimized. A total of 59 volatile compounds were identified by using the optimized method, including 28 ethers, 15 aldehydes, 6 alcohols, 5 ketones, 2 hydrocarbons, 1 ester, and 2 phenols. Ethers are the most abundant, especially dimethyl trisulfide (10,623.30 µg/kg). By calculating the odor activity values (OAVs), 11 volatile compounds were identified as the major aroma-active compounds of Chinese chive. From the analysis of the composition of Chinese chive aroma, the "garlic and onion" odor (OAV = 2361.09) showed an absolute predominance over the other 5 categories of aroma. The results of this study elucidated the main sources of Chinese chive aroma from a chemical point of view and provided the theoretical basis for improving the flavor quality of Chinese chive.


Assuntos
Cebolinha-Francesa , Compostos Orgânicos Voláteis , Éteres , Cromatografia Gasosa-Espectrometria de Massas/métodos , Odorantes/análise , Microextração em Fase Sólida/métodos , Compostos Orgânicos Voláteis/análise
6.
Am J Med Genet A ; 185(7): 2056-2064, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33880880

RESUMO

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by anomalies mainly involving the structures derived from the first and second pharyngeal arches. The spectrum presents with heterogeneous clinical features and complex etiology with genetic factors not yet completely understood. To date, MYT1 is the most important gene unambiguously associated with the spectrum and with functional data confirmation. In this work, we aimed to identify new single nucleotide variants (SNVs) affecting MYT1 in a cohort of 73 Brazilian patients diagnosed with OAVS. In addition, we investigated copy number variations (CNVs) encompassing this gene or its cis-regulatory elements and compared the frequency of these events in patients versus a cohort of 455 Brazilian control individuals. A new SNV, predicted as likely deleterious, was identified in five unrelated patients with OAVS. All five patients presented hearing impairment and orbital asymmetry suggesting an association with the variant. CNVs near MYT1, located in its neighboring topologically associating domain (TAD), were found to be enriched in patients when compared to controls, indicating a possible involvement of this region with OAVS pathogenicity. Our findings highlight the genetic complexity of the spectrum that seems to involve more than one variant type and inheritance patterns.


Assuntos
Proteínas de Ligação a DNA/genética , Predisposição Genética para Doença , Síndrome de Goldenhar/genética , Fatores de Transcrição/genética , Região Branquial/patologia , Brasil/epidemiologia , Variações do Número de Cópias de DNA/genética , Feminino , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/patologia , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética
7.
Int J Mol Sci ; 22(3)2021 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-33530447

RESUMO

Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular defects, and vertebral malformations being the main features. MYT1, AMIGO2, and ZYG11B gene variants were reported in a few OAVS patients, but the etiology remains largely unknown. A multifactorial origin has been proposed, including the involvement of environmental and epigenetic mechanisms. To identify the epigenetic mechanisms contributing to OAVS, we evaluated the DNA-methylation profiles of 41 OAVS unrelated affected individuals by using a genome-wide microarray-based methylation approach. The analysis was first carried out comparing OAVS patients with controls at the group level. It revealed a moderate epigenetic variation in a large number of genes implicated in basic chromatin dynamics such as DNA packaging and protein-DNA organization. The alternative analysis in individual profiles based on the searching for Stochastic Epigenetic Variants (SEV) identified an increased number of SEVs in OAVS patients compared to controls. Although no recurrent deregulated enriched regions were found, isolated patients harboring suggestive epigenetic deregulations were identified. The recognition of a different DNA methylation pattern in the OAVS cohort and the identification of isolated patients with suggestive epigenetic variations provide consistent evidence for the contribution of epigenetic mechanisms to the etiology of this complex and heterogeneous disorder.


Assuntos
Metilação de DNA , Epigênese Genética , Estudo de Associação Genômica Ampla , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/genética , Biologia Computacional/métodos , Ilhas de CpG , Feminino , Perfilação da Expressão Gênica , Estudos de Associação Genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino , Anotação de Sequência Molecular , Fenótipo
8.
Molecules ; 26(4)2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33557222

RESUMO

'Orin' is a popular apple cultivar, which has a yellow-green appearance, pleasant taste, and unique aroma. However, few studies on the fruit quality characteristics of 'Orin' apples have been reported before. In this study, changes of the physiological characteristics were measured at different ripening stages, and the soluble sugars and organic acids were determined by high-performance liquid chromatography (HPLC). Volatile compounds were identified using the headspace solid-phase microextraction (HS-SPME) coupled with gas chromatography-mass spectrometry (GC-MS). During the fruit ripening, the 'Orin' apple fruit weight, size, and total soluble solid were gradually increased by contrast with the titratable acidity, and the firmness decreased. The content of four soluble sugars reached the maximum at the 180 days after full bloom (DAFB) stage. Malic acid was measured as the most abundant organic acid in 'Orin' apples. Ethyl butyrate, hexyl propanoate, hexyl acetate and butyl acetate belonging to esters with high odor activity values (OAVs) could be responsible for the typical aroma of 'Orin' apples. The aim of this work was to provide information on the flavor characteristics of 'Orin' apples and promote this apple cultivar for marketing and processing in the future.


Assuntos
Ácidos/análise , Malus/química , Malus/crescimento & desenvolvimento , Açúcares/análise , Açúcares/química , Compostos Orgânicos Voláteis/análise , Solubilidade
9.
Clin Genet ; 98(4): 384-389, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32639022

RESUMO

Oculo-auriculo-vertebral spectrum (OAVS) [MIM:164210], or Goldenhar syndrome, is a developmental disorder associating defects of structures derived from the first and second branchial arches. The genetic origin of OAVS is supported by the description of rare deleterious variants in a few causative genes, and several chromosomal copy number variations. We describe here a large family with eight male members affected by a mild form of the spectrum, mostly auricular defects, harboring a hemizygous ZIC3 variant detected by familial exome sequencing: c.159_161dup p.(Ala55dup), resulting in an expansion of the normal 10 consecutive alanine residues to 11 alanines. Segregation analysis shows its presence in all the affected individuals, with a recessive X-linked transmission. Whole-genome sequencing performed in another affected male allowed to exclude linkage disequilibrium between this ZIC3 variant and another potential pathogenic variant in this family. Furthermore, by screening of a cohort of 274 OAVS patients, we found 1 male patient carrying an expansion of 10 to 12 alanines, a variant previously reported in patient presenting with VACTERL. Loss-of-function variants of ZIC3 are causing heterotaxy or cardiac malformations. These alanine expansion variants could have a different impact on the protein and thereby resulting in a different phenotype within the OAVS/VACTERL.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/genética , Predisposição Genética para Doença , Síndrome de Goldenhar/genética , Cardiopatias Congênitas/genética , Proteínas de Homeodomínio/genética , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Fatores de Transcrição/genética , Adolescente , Adulto , Alanina/genética , Canal Anal/patologia , Região Branquial/diagnóstico por imagem , Região Branquial/patologia , Criança , Pré-Escolar , Variações do Número de Cópias de DNA/genética , Esôfago/patologia , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Síndrome de Goldenhar/patologia , Cardiopatias Congênitas/patologia , Humanos , Lactente , Rim/patologia , Deformidades Congênitas dos Membros/patologia , Mutação com Perda de Função/genética , Masculino , Sequências Repetitivas de Aminoácidos/genética , Coluna Vertebral/patologia , Traqueia/patologia , Sequenciamento Completo do Genoma , Adulto Jovem
10.
J Sci Food Agric ; 100(13): 4688-4695, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32418224

RESUMO

BACKGROUND: The aromatic potential of mango by-products was evaluated to seek natural and cheap sources of odor-active compounds. Volatile compounds in mango peel and seed were chemically characterized and compared with those in mango pulp using headspace solid-phase microextraction coupled to gas chromatography-mass spectrometry (HS-SPME/GC-MS). RESULTS: More than 60 volatile compounds were detected in mango by-products, whose aromatic activity was estimated using odorant activity values (OAVs). The results indicated that mango peel was a valuable matrix of odor-active compounds, which were found in even larger quantities than in edible mango fractions. 3-Carene was the predominant compound, although other compounds such as decanal, 1-octen-3-one, nonanal, limonene, ß-damascenone, and 2-nonenal were the most odor-active compounds in mango peel. The greatest aromatic impact was obtained from mango peel, with sensorial features described as fresh / herbaceous, fruity, floral and resinous. CONCLUSION: The exceptional flavoring potential of mango peel by-product opens a door for its use and revalorization as a natural flavoring ingredient in the food and cosmetic industries. © 2020 Society of Chemical Industry.


Assuntos
Aromatizantes/química , Mangifera/química , Extratos Vegetais/química , Resíduos/análise , Aromatizantes/análise , Frutas/química , Cromatografia Gasosa-Espectrometria de Massas , Odorantes/análise , Extratos Vegetais/isolamento & purificação , Microextração em Fase Sólida , Compostos Orgânicos Voláteis/química , Compostos Orgânicos Voláteis/isolamento & purificação
11.
Molecules ; 24(16)2019 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-31426361

RESUMO

Key odorants of red wine made from the hybrid grapes of Marselan (Vitis vinifera L.) were isolated by solid-phase extraction (SPE) and explored by gas chromatography-olfactometry (GC-O) analysis. Application of aroma extract dilution analysis (AEDA) revealed 43 odor-active compounds, and 31 odorants among them were detected with flavor dilution (FD) factors ranging from 9 to 2187. Comprehensive two-dimensional gas chromatography and time-of-flight mass spectrometry (GC × GC-TOF-MS) were exploited to quantitate the aroma-active compounds with FD ≥9. The identification indicated ß-damascenone as having the highest FD factors, followed by eugenol, 2,3-butanedione, citronellol, 4-hydroxy-2,5-dimethyl-3(2H)-furanone, phenethyl acetate, guaiacol, and 2-methoxy-4-vinylphenol. A total of 21 compounds were found to have odor activity values (OAVs) >1.0. Aroma reconstitution validation experiments showed a good similarity of blackberry, green pepper, honey, raspberry, caramel, smoky, and cinnamon aroma attributes between the original Marselan wine and the reconstructed wine. In addition, omission tests were carried out to further determine the contribution of odorants to the overall aroma.


Assuntos
Odorantes/análise , Olfato/fisiologia , Vitis/química , Compostos Orgânicos Voláteis/isolamento & purificação , Vinho/análise , Monoterpenos Acíclicos/isolamento & purificação , Diacetil/isolamento & purificação , Eugenol/isolamento & purificação , Feminino , Furanos/isolamento & purificação , Cromatografia Gasosa-Espectrometria de Massas , Guaiacol/análogos & derivados , Guaiacol/isolamento & purificação , Humanos , Masculino , Norisoprenoides/isolamento & purificação , Olfatometria/instrumentação , Olfatometria/métodos , Extração em Fase Sólida/métodos , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Paladar/fisiologia , Compostos de Vinila/isolamento & purificação , Compostos Orgânicos Voláteis/classificação
12.
J Med Genet ; 53(11): 752-760, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27358179

RESUMO

BACKGROUND: Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. OBJECTIVES: We aimed to identify the first causative gene for OAVS. METHODS: As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations. Candidate gene was tested through transient knockdown experiment in zebrafish using a morpholino-based approach. A functional test was developed in cell culture in order to assess deleterious consequences of mutations. RESULTS: By WES, we identified a heterozygous nonsense mutation in one patient in the myelin transcription factor 1 (MYT1) gene. Further, we detected one heterozygous missense mutation in another patient among a cohort of 169 patients with OAVS. This gene encodes the MYT1. Functional studies by transient knockdown of myt1a, homologue of MYT1 in zebrafish, led to specific craniofacial cartilage alterations. Treatment with all-trans retinoic acid (RA), a known teratogenic agent causing OAVS, led to an upregulation of cellular endogenous MYT1 expression. Additionally, cellular wild-type MYT1 overexpression induced a downregulation of RA receptor ß (RARB), whereas mutated MYT1 did not. CONCLUSION: We report MYT1 as the first gene implicated in OAVS, within the RA signalling pathway.

13.
Molecules ; 20(10): 19002-13, 2015 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-26492228

RESUMO

As one of the oldest distillates in the world, flavor compounds of Chinese Baijiu (Chinese liquor) were extremely complex. Propyl lactate was firstly detected by direct injection and gas chromatography-mass spectrometry (GC-MS) in 72 Chinese Baijius. The objectives were to detect the contents of propyl lactate and evaluate its contribution to the aroma of Chinese Baijiu based on odor activity values (OAVs). The levels of propyl lactate in these distillates were determined by internal standard method and selective ion monitoring (SIM), which ranged from 0.050 to 1.900 mg∙L(-1) under investigation. Its detection threshold was determined by Three-Alternative Forced-Choice (3-AFC) and curve fitting (CF), which was 0.740 mg∙L(-1) in 38% ethanol solution. The contribution of propyl lactate on the aroma of these distillate drinks was evaluated by their odor activity values (OAVs), which varied from 0.066 to 4.440. The OAVs of propyl lactate were found to exceed 1 in 13 Chinese Baijius, including 50° Jingzhi Guniang 5 years (4.440), 52° Jingzhi Guniang 10 years (3.024), Jingyanggang (2.568), Xianghe Ronghe Shaofang (2.313), and 1956 Laolang (1.431), which indicated that propyl lactate was one of odor-active components in these Chinese Baijius.


Assuntos
1-Propanol/química , Bebidas Alcoólicas/análise , Cromatografia Gasosa-Espectrometria de Massas/métodos , Ácido Láctico/química , Odorantes/análise , Compostos Orgânicos Voláteis/análise , Compostos Orgânicos Voláteis/química
14.
Food Chem ; 443: 138578, 2024 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-38301554

RESUMO

Optimization of seven parameters of stir bar sorptive extraction (SBSE) on mulberry volatile components for the first time. A total of 347 volatile components were identified and quantified in 14 mulberry varieties, predominantly encompassing esters, aldehydes, terpenoids, hydrocarbons, ketones, alcohols, heterocyclics, acids, and phenols. Hexanal and (E)-2-hexenal were the dominant volatiles. Furthermore, 79 volatile compounds characterized by odor activity values (OAVs) > 1 were identified, making a significant contribution to the distinctive mulberry flavor. "Green" notes were the most intense, followed by "fatty" and "fruity". Utilizing odor ring charts, the volatile flavor characteristics of the 14 mulberry varieties could be intuitively distinguished. This study not only established a viable methodology for differentiating mulberry varieties but also laid a theoretical foundation for the quality evaluation and variety breeding of mulberry flavor.


Assuntos
Aldeídos , Morus , Compostos Orgânicos Voláteis , Compostos Orgânicos Voláteis/análise , Melhoramento Vegetal , Cromatografia Gasosa-Espectrometria de Massas/métodos , Frutas/química , Odorantes/análise
15.
Food Chem ; 457: 140128, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38959682

RESUMO

Headspace-solid phase microextraction/gas chromatography-mass spectrometry (HS-SPME/GC-MS) and electronic nose (E-nose) technologies were implemented to characterize the volatile profile of aerial part from 40 coriander varieties. A total of 207 volatile compounds were identified and quantified, including aldehydes, alcohols, terpenes, hydrocarbons, esters, ketones, acids, furans, phenols and others. E-nose results showed that W5S and W2W were representative sensors responding to coriander odor. Among all varieties, the number (21-30 species) and content (449.94-1050.55 µg/g) of aldehydes were the highest, and the most abundant analytes were (Z)-9-hexadecenal or (E)-2-tetratecenal, which accounted for approximately one-third of the total content. In addition, 37 components were determined the characteristic constituents with odor activity values (OAVs) ≥ 1, mainly presenting citrusy, fatty, soapy and floral smells. Hierarchical cluster analysis (HCA) and principal component analysis (PCA) could effectively distinguish different varieties. This study provided a crucial theoretical basis for flavor evaluation and quality improvement of coriander germplasm resources.

16.
Foods ; 13(5)2024 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-38472793

RESUMO

Rice-based Baijiu has gained popularity in the Chinese market. Qingya-flavored Baijiu, a variant of Xiaoqu-fermented Baijiu, employs rice as its primary raw material, with an improved production process compared to traditional rice-flavored Baijiu. We comprehensively characterized and compared the aroma profiles of these two rice-based Baijiu types using static sensory experiments (QDA, quantitative descriptive analysis) and dynamic sensory experiments (TDS, temporal dominance of sensations). Qingya-flavored Baijiu exhibited pronounced plant, oily, and roasted aromas, while traditional rice-flavored Baijiu displayed more prominent fruity, floral, and sour notes. Utilizing GC-O-MS (gas chromatography-olfactometry-mass spectrometry) and multi-method quantification, we qualitatively and quantitatively analyzed 61 key aroma compounds, identifying 22 compounds with significant aroma contributions based on odor activity values (OAVs). Statistical analyses, combining sensory and chemical results, were conducted to predict important aroma compounds responsible for the aroma differences between the two Baijiu types. Aroma Recombination and Omission experiments showed that seven compounds play key roles in the aroma of Qingya-flavored Baijiu, including (2E,4E)-Deca-2,4-dienal, linalool, apricolin, ethyl acetate, ethyl isobutyrate, ethyl caprylate, and ethyl isovalerate.

17.
Am J Med Genet A ; 161A(8): 1985-91, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23794175

RESUMO

Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony.


Assuntos
Transtornos Cromossômicos/complicações , Cromossomos Humanos Par 22/genética , Assimetria Facial/etiologia , Adulto , Aneuploidia , Transtornos Cromossômicos/genética , Hibridização Genômica Comparativa , Anormalidades do Olho , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Fenótipo
18.
Foods ; 12(6)2023 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-36981164

RESUMO

This study comprehensively characterized and compared the aroma differences between four different grades of Fenjiu (FJ, the most representative light-flavor Baijiu). Aroma-active compounds were analyzed by liquid-liquid extraction (LLE) coupled with gas chromatography-olfactometry-mass spectrometry (GC-O-MS). A total of 88 aroma-active compounds were identified, and 70 of them were quantified. The results showed that a majority of aroma compounds in high-grade FJ had higher aroma intensities and concentrations. Among these compounds, there were 28 compounds with odor activity values (OAVs) greater than one in all four wines, which indicated that they might contribute to the characteristic aroma of FJ. Temporal dominance of sensation (TDS) and quantitative descriptive analysis (QDA) were used to characterize the sensory differences. The results suggested that high-grade FJ had a rich, pleasant and lasting retronasal aroma perception and exhibited pleasant orthonasal aroma of floral, fruity, sweet and grassy. Partial least squares regression (PLSR) analysis effectively distinguished four kinds of FJ and revealed associations between the orthonasal aroma attributes and the aroma compounds with OAVs >1. There were 15 compounds with variable importance in projection (VIP) values >1, and they were considered potential aroma markers for quality prediction.

19.
Int J Mol Sci ; 13(6): 7383-7392, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22837701

RESUMO

Volatile compounds from two pineapples varieties (Tainong No.4 and No.6) were isolated by headspace solid phase microextraction (HS-SPME) and identified and quantified by gas chromatography-mass spectrometry (GC/MS). In the Tainong No. 4 and No. 6 pineapples, a total of 11 and 28 volatile compounds were identified according to their retention time on capillary columns and their mass spectra, and quantified with total concentrations of 1080.44 µg·kg(-1) and 380.66 µg·kg(-1) in the Tainong No.4 and No. 6 pineapples, respectively. The odor active values (OAVs) of volatile compounds from pineapples were also calculated. According to the OAVs, four compounds were defined as the characteristic aroma compounds for the Tainong No. 4 pineapple, including furaneol, 3-(methylthio)propanoic acid methyl ester, 3-(methylthio)propanoic acid ethyl ester and δ-octalactone. The OAVs of five compounds including ethyl-2-methylbutyrate, methyl-2-methylbutyrate, 3-(methylthio)propanoic acid ethyl ester, ethyl hexanoate and decanal were considered to be the characteristic aroma compounds for the Tainong No. 6 pineapple.


Assuntos
Ananas/química , Compostos Orgânicos Voláteis/análise , China , Cromatografia Gasosa-Espectrometria de Massas/métodos
20.
Front Plant Sci ; 13: 822956, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35783924

RESUMO

Volatile compounds could affect the flavor and ornamental quality of cut flowers, but the flavor change occurring during the vase period of the cut flower is unclear. To clarify the dynamic changes during the vase period of cut lily (Lilium spp. 'Manissa') flowers, comprehensive flavor profiles were characterized by the electronic nose (E-nose) and headspace solid-phase microextraction gas chromatography-mass spectrometry (HS-SPME/GC-MS). The response value of sensor W2W was significantly higher than other sensors, and its response value reached the highest on day 4. A total of 59 volatiles were detected in cut lilies by HS-SPME/GC-MS, mainly including aldehydes, alcohols, and esters. There were 19 volatiles with odor activity values (OAVs) greater than 1. Floral and fruity aromas were stronger, followed by a pungent scent. Principal component analysis (PCA) and hierarchical cluster analysis (HCA) could effectively discriminate lily samples derived from different vase times on the basis of E-nose and HS-SPME-GC-MS. In summary, our study investigates the flavor change profile and the diversity of volatile compounds during the vase period of cut lilies, and lilies on day 4 after harvest exhibited excellent aroma and flavor taking into consideration of the flavor intensity and diversity. This provided theoretical guidance for the assessment of scent volatiles and flavor quality during the vase period of cut lily flowers and will be helpful for the application of cut lilies during the postharvest process.

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