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INTRODUCTION: Acute myeloid leukemia (AML) is a complex hematologic malignancy characterized by uncontrolled proliferation of myeloid precursor cells within bone marrow. Despite advances in understanding of its molecular underpinnings, AML remains a therapeutic challenge due to its high relapse rate and clonal evolution. METHODS: In this retrospective study, we analyzed data from 24 AML patients diagnosed at a single institution between January 2017 and August 2023. Comprehensive genetic analyses, including chromosomal karyotyping, next-generation sequencing, and gene fusion assays, were performed on bone marrow samples obtained at initial diagnosis and relapse. Clinical data, treatment regimens, and patient outcomes were also documented. RESULTS: Mutations in core genes of FLT3, NPM1, DNMT3A, and IDH2 were frequently discovered in diagnostic sample and remained in relapse sample. FLT3-ITD, TP53, KIT, RUNX1, and WT1 mutation were acquired at relapse in one patient each. Gene fusion assays revealed stable patterns, while chromosomal karyotype analyses indicated a greater diversity of mutations in relapsed patients. Clonal evolution patterns varied, with some cases showing linear or branching evolution and others exhibiting no substantial change in core mutations between diagnosis and relapse. CONCLUSIONS: Our study integrates karyotype, gene rearrangements, and gene mutation results to provide a further understanding of AML heterogeneity and evolution. We demonstrate the clinical relevance of specific mutations and clonal evolution patterns, emphasizing the need for personalized therapies and measurable residual disease monitoring in AML management. By bridging the gap between genetics and clinical outcome, we move closer to tailored AML therapies and improved patient prognoses.
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Androgenetic alopecia is a genetic disorder that commonly causes progressive hair loss in men, leading to diminished self-esteem. Although cannabinoids extracted from Cannabis sativa are used in hair loss treatments, no study has evaluated the effects of germinated hemp seed extract (GHSE) and exosomes derived from the calli of germinated hemp seeds on alopecia. Therefore, this study aimed to demonstrate their preventive effects against alopecia using various methodologies, including quantitative PCR, flow cytometry, ELISA, and immunocytochemistry. Our research highlights the preventive functions of GHSE (GE2000: 2000 µg/mL) and exosomes from the calli of germinated hemp seeds (E40: 40 µg/mL) in three biochemical categories: genetic modulation in hair follicle dermal papilla stem cells (HFDPSCs), cellular differentiation, and immune system modulation. Upon exposure to dihydrotestosterone (DT), both biomaterials upregulated genes preventing alopecia (Wnt, ß-catenin, and TCF) in HFDPSCs and suppressed genes activating alopecia (STAT1, 5α-reductase type 1, IL-15R). Additionally, they suppressed alopecia-related genes (NKG2DL, IL2-Rß, JAK1, STAT1) in CD8+ T cells. Notably, E40 exhibited more pronounced effects compared to GE2000. Consequently, both E40 and GE2000 effectively mitigated DT-induced stress, activating mechanisms promoting hair formation. Given the limited research on alopecia using these materials, their pharmaceutical development promises significant economic and health benefits.
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Alopecia , Cannabis , Folículo Piloso , Extratos Vegetais , Sementes , Células-Tronco , Cannabis/química , Sementes/química , Folículo Piloso/efeitos dos fármacos , Folículo Piloso/metabolismo , Células-Tronco/efeitos dos fármacos , Células-Tronco/metabolismo , Extratos Vegetais/farmacologia , Extratos Vegetais/química , Alopecia/tratamento farmacológico , Animais , Camundongos , Materiais Biocompatíveis/farmacologia , Materiais Biocompatíveis/química , Exossomos/metabolismo , Germinação/efeitos dos fármacos , Diferenciação Celular/efeitos dos fármacos , Masculino , Linfócitos T CD8-Positivos/efeitos dos fármacos , Linfócitos T CD8-Positivos/imunologia , Linfócitos T CD8-Positivos/metabolismoRESUMO
OBJECTIVE: To evaluate the accuracy of a 3-dimensionally (3D)-printed custom endoscopy port (3DEP) for minimally invasive cervical ventral slot decompression. STUDY DESIGN: Cadaveric study. ANIMALS: Fifteen cadavers of dogs weighing between 3.1 and 34.4 kg. METHODS: Minimally invasive cervical ventral slots were created using a 3DEP and an endoscopic system at the C3-C4 intervertebral disc space in each dog by 1 experienced and 1 inexperienced surgeon. Postoperative computed tomography was performed to compare the planned and postoperative screw trajectories (angle, entry point, exit point, and length of the screw entering the spinal canal) and quantify slot formation dimensions. RESULTS: Thirty screws were inserted in 30 vertebral bodies. Mean screw angle deviation was less than 2.5°, entry and exit point deviation was less than 1.6 mm, and length of the screw entering the spinal canal was less than 0.6 mm. No differences were identified between the experienced and inexperienced surgeons. Ventral slot length ratio was 30.15 ± 1.86 for the experienced surgeon and 29.38 ± 1.61 for the inexperienced surgeon (p = .372). The mean ventral slot width ratio was 45.60 ± 1.80 for the experienced surgeon and 47.20 ± 1.54 for the inexperienced surgeon (p = .261). CONCLUSION: Screw positioning and creation of ventral slots were accurately performed using the 3DEP by both inexperienced and experienced surgeons. CLINICAL SIGNIFICANCE: The use of a 3DEP for minimally invasive cervical ventral slot decompression may be an alternative to the conventional ventral slot in dogs. Additional studies are needed to evaluate efficacy and safety.
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Doenças do Cão , Endoscopia , Humanos , Cães , Animais , Endoscopia/veterinária , Tomografia Computadorizada por Raios X/veterinária , Descompressão Cirúrgica/veterinária , Descompressão Cirúrgica/métodos , Cadáver , Vértebras Cervicais/cirurgia , Doenças do Cão/cirurgiaRESUMO
Choice behavior is characterized by temporal discounting, i.e., preference for immediate rewards given a choice between immediate and delayed rewards. Agouti-related peptide (AgRP)-expressing neurons located in the arcuate nucleus of the hypothalamus (ARC) regulate food intake and energy homeostasis, yet whether AgRP neurons influence choice behavior and temporal discounting is unknown. Here, we demonstrate that motivational state potently modulates temporal discounting. Hungry mice (both male and female) strongly preferred immediate food rewards, yet sated mice were largely indifferent to reward delay. More importantly, selective optogenetic activation of AgRP-expressing neurons or their axon terminals within the posterior bed nucleus of stria terminalis (BNST) produced temporal discounting in sated mice. Furthermore, activation of neuropeptide Y (NPY) type 1 receptors (Y1Rs) within the BNST is sufficient to produce temporal discounting. These results demonstrate a profound influence of hypothalamic signaling on temporal discounting for food rewards and reveal a novel circuit that determine choice behavior.SIGNIFICANCE STATEMENT Temporal discounting is a universal phenomenon found in many species, yet the underlying neurocircuit mechanisms are still poorly understood. Our results revealed a novel neural pathway from agouti-related peptide (AgRP) neurons in the hypothalamus to the bed nucleus of stria terminalis (BNST) that regulates temporal discounting in decision-making.
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Tonsila do Cerebelo/fisiologia , Desvalorização pelo Atraso/fisiologia , Hipotálamo/fisiologia , Vias Neurais/fisiologia , Neurônios/fisiologia , Proteína Relacionada com Agouti/metabolismo , Animais , Feminino , Masculino , CamundongosRESUMO
BACKGROUND: As the frequency of spine surgery increases in the veterinary field, many studies have been conducted on minimally invasive spine surgery (MISS). Although many studies have been conducted on the thoracolumbar spine about MISS in animals, several problems and limitations have emerged regarding this method. Therefore, we developed a three-dimensional (3D) printed patient-specific surgical guide (3DPSSG) using 3D printing technology to overcome these problems. We aimed to evaluate the accuracy and safety of the 3DPSSG in minimally invasive mini-hemilaminectomy-corpectomy (MI-MHC). MI-MHC using 3DPSSG and an endoscopic system was performed at L1-L2 in 15 cadaveric dogs. The procedure of fixing the surgical guide to the vertebral body through screws and the surgical procedure using the guide were performed by two surgeons with different experiences. Postoperative computed tomography was used to measure planned and postoperative screw trajectories (angle, protruding from the far cortex) and to create 3D rendering images of vertebrae to evaluate the direction of bone window formation, corpectomy slot length, depth, and height ratio. RESULTS: The two groups which performed by two surgeons with different experiences did not differ in terms of screw angle deviation and length of the screw protruded from the far cortex. The corpectomy slot-length ratio was not different between the two groups; however, the slot-depth and height ratios were different. CONCLUSIONS: No differences were detected in screw trajectory and corpectomy slot-length ratio between the two groups. The 3DPSSG for MI-MHC is classified as accurate and safe; therefore, it can be an alternative to the conventional technique in dogs.
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Doenças do Cão , Fusão Vertebral , Animais , Parafusos Ósseos , Cadáver , Doenças do Cão/cirurgia , Cães , Humanos , Imageamento Tridimensional , Impressão Tridimensional , Fusão Vertebral/métodos , Fusão Vertebral/veterináriaRESUMO
Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of ANK2, a high-confidence autism spectrum disorder (ASD) gene. We report that a mouse model for human ASD mutation of giant ankB exhibits increased axonal branching in cultured neurons with ectopic CNS axon connectivity, as well as with a transient increase in excitatory synapses during postnatal development. We elucidate a mechanism normally limiting axon branching, whereby giant ankB localizes to periodic axonal plasma membrane domains through L1 cell-adhesion molecule protein, where it couples microtubules to the plasma membrane and prevents microtubule entry into nascent axon branches. Giant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicative and social behaviors combined with superior executive function. Thus, gain of axon branching due to giant ankB-deficiency/mutation is a candidate cellular mechanism to explain aberrant structural connectivity and penetrant behavioral consequences in mice as well as humans bearing ASD-related ANK2 mutations.
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Anquirinas/genética , Transtorno do Espectro Autista/genética , Molécula L1 de Adesão de Célula Nervosa/genética , Crescimento Neuronal , Neurônios/metabolismo , Sinapses/metabolismo , Processamento Alternativo , Animais , Anquirinas/metabolismo , Transtorno do Espectro Autista/metabolismo , Transtorno do Espectro Autista/fisiopatologia , Comportamento Animal , Membrana Celular/metabolismo , Membrana Celular/ultraestrutura , Conectoma , Modelos Animais de Doenças , Função Executiva/fisiologia , Expressão Gênica , Técnicas de Introdução de Genes , Humanos , Masculino , Camundongos , Camundongos Transgênicos , Microtúbulos/metabolismo , Microtúbulos/ultraestrutura , Mutação , Molécula L1 de Adesão de Célula Nervosa/metabolismo , Neurônios/patologia , Cultura Primária de Células , Comportamento Social , Sinapses/patologiaRESUMO
A fledgling feral pigeon with systemic protozoal infection was referred with corneal protrusion in the right eye after being treated for a corneal ulcer for 12 days. Ophthalmic examination revealed a corneal bulla covering almost the entire central cornea and preventing the eyelids from closing. Gelatinous corneal stroma with numerous heterophils surrounding the corneal bulla was also detected on cytologic examination. Bullous keratopathy and melting keratitis in the right eye were diagnosed. Temporary tarsorrhaphy with topical eye drops was prescribed for a week; however, the bulla persisted. A modified nictitating membrane flap was created under general anesthesia and maintained for 2 weeks. The corneal bulla resolved, and corneal thickness was restored. The pigeon was presented again with recurrence of the corneal bulla in the right eye after 45 days. Alternative surgical options were recommended; however, the pigeon was euthanized because the protozoa-induced intra-oral and intra-aural masses caused malformation of the beaks, which made voluntary feeding impossible.
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Columbidae , Edema da Córnea , Animais , Vesícula/veterinária , Córnea , Edema da Córnea/veterinária , Membrana NictitanteRESUMO
OBJECTIVE: To determine whether a tibial plateau leveling osteotomy (TPLO) performed with a customized 3D-printed guide and jig is more accurate than the traditional technique using a jig alone. STUDY DESIGN: In vitro study. SAMPLE POPULATION: Cadaveric canine pelvic limbs (n = 10) and 20 synthetic bone models. METHODS: Tibial plateau leveling osteotomy using a jig with (n = 10) and without (n = 10) a customized 3D-printed guide were performed in bone models, and TPLO using a jig with (n = 5) and without (n = 5) a customized 3D-printed guide were performed in cadaveric limbs. Angulation of the osteotomy, angulation of the proximal jig pin, angular/torsional deformity and medial cortex damage were measured from photographs of the specimens and compared. RESULTS: In the bone models, there were differences with and without the 3D guide for mean osteotomy inclination (-0.06° vs. -1.74°, P < .001), osteotomy torsion (5268 vs. 10 469 visible osteotomy pixels, P < .001), and medial cortical damage (2970 vs. 18 562 pixels, P < .001). In the cadaveric study, osteotomy inclination (-1.1° vs. 1.01°, P < .01), induced angular deformity (0.17° vs. -3.01°, P < .001) and angulation of the proximal jig pin (-0.27° vs. 0.80°, P < .001) differed between groups. CONCLUSION: The 3D-printed guide during TPLO resulted in slightly more accurate osteotomies and proximal jig pin placement, and reduced medial cortex damage. CLINICAL SIGNIFICANCE: A customized 3D-printed guide may improve intraoperative accuracy for TPLO, although the clinical significance of the small benefits is unknown.
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Doenças do Cão , Tíbia , Animais , Cadáver , Doenças do Cão/cirurgia , Cães , Membro Posterior , Humanos , Osteotomia/métodos , Osteotomia/veterinária , Impressão Tridimensional , Tíbia/cirurgiaRESUMO
The annual herb Euphorbia maculata L. produces anti-inflammatory and biologically active substances such as triterpenoids, tannins, and polyphenols, and it is used in traditional Chinese medicine. Of these bioactive compounds, terpenoids, also called isoprenoids, are major secondary metabolites in E. maculata. Full-length cDNA sequencing was carried out to characterize the transcripts of terpenoid biosynthesis reference genes and determine the copy numbers of their isoforms using PacBio SMRT sequencing technology. The Illumina short-read sequencing platform was also employed to identify differentially expressed genes (DEGs) in the secondary metabolite pathways from leaves, roots, and stems. PacBio generated 62 million polymerase reads, resulting in 81,433 high-quality reads. From these high-quality reads, we reconstructed a genome of 20,722 genes, in which 20,246 genes (97.8%) did not have paralogs. About 33% of the identified genes had two or more isoforms. DEG analysis revealed that the expression level differed among gene paralogs in the leaf, stem, and root. Whole sets of paralogs and isoforms were identified in the mevalonic acid (MVA), methylerythritol phosphate (MEP), and terpenoid biosynthesis pathways in the E. maculata L. The nucleotide information will be useful for identifying orthologous genes in other terpenoid-producing medicinal plants.
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Euphorbia , DNA Complementar/genética , Euphorbia/genética , Euphorbia/metabolismo , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Sequenciamento de Nucleotídeos em Larga Escala , Terpenos/metabolismo , Transcriptoma/genéticaRESUMO
The early vascular plants in the genus Selaginella, which is the sole genus of the Selaginellaceae family, have an important place in evolutionary history, along with ferns, as such plants are valuable resources for deciphering plant evolution. In this study, we sequenced and assembled the plastid genome (plastome) sequences of two Selaginella tamariscina individuals, as well as Selaginella stauntoniana and Selaginella involvens. Unlike the inverted repeat (IR) structures typically found in plant plastomes, Selaginella species had direct repeat (DR) structures, which were confirmed by Oxford Nanopore long-read sequence assembly. Comparative analyses of 19 lycophytes, including two Huperzia and one Isoetes species, revealed unique phylogenetic relationships between Selaginella species and related lycophytes, reflected by structural rearrangements involving two rounds of large inversions that resulted in dynamic changes between IR and DR blocks in the plastome sequence. Furthermore, we present other uncommon characteristics, including a small genome size, drastic reductions in gene and intron numbers, a high GC content, and extensive RNA editing. Although the 16 Selaginella species examined may not fully represent the genus, our findings suggest that Selaginella plastomes have undergone unique evolutionary events yielding genomic features unparalleled in other lycophytes, ferns, or seed plants.
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Genoma de Planta , Genomas de Plastídeos , Genômica , Selaginellaceae/genética , Composição de Bases , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Tamanho do Genoma , Genômica/métodos , Íntrons , Filogenia , Edição de RNA , Selaginellaceae/classificaçãoRESUMO
Incorporating technologies such as 3D printers and the Internet of things (IoT) can improve the nail art industry by making it more efficient, and, most importantly, safer. It eliminates the need for physical shops such as nail salons. Nail art by 3D printing technology can achieve higher resolution and accuracy than before with conformal projection printing method (CPPM). The conventional method of painting nails manually leads to acute exposure to ultraviolet (UV) light that can contribute to minor health hazards. This research illustrates the benefits of using 3D printing for nail art. This study uses the IoT system, which can be stationed in a distinct location from the customer. The product on the nail is printed at least once and up to three times within 5 µm to achieve precise resolution through laser marking and CPPM, which can increase the accuracy by repeated projection to attain the required settling ratio. The correlation between the numbers of printed layers and different incident angles of the printing head on the conformal surface is discussed. The ratio of projected weight to the ideal weight for high-definition printing condition is illustrated, and comparison studies with conventional nail art techniques are conducted to validate the results.
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Unhas , Impressão Tridimensional , HumanosRESUMO
The goal of the present study focused on the adverse reaction of contrast medium (CM) via the induction of inflammatory molecules in human umbilical vein endothelial cells (HUVECs). Ultravist-induced monocyte chemoattractant protein-1 (MCP-1) and vascular cell adhesion molecule-1 (VCAM-1) gene expression was markedly increased in interleukin-4 (IL-4)-pretreated HUVECs in a time- and dose-dependent manner and was paralleled by concomitant production of MCP-1 and VCAM-1 proteins. MCP-1 and VCAM-1 gene expression by Ultravist in combination with IL-4 was mediated by the c-Jun N-terminal kinases (JNK1/2) signaling pathway. IL-4-pretreated Ultravist-stimulated HUVECs showed greatly increased migration and adhesion of THP-1 cells. Cell migration was decreased by treatment of CCR2 antagonist, and cell adhesion was also decreased by VCAM-1 blocking antibody. Furthermore, when tested in vivo under similar conditions, MCP-1 protein was significantly increased in Ultravist combined with IL-4-injected mice. Taken together, our findings suggest that MCP-1 blocking may be crucial in preventing the endothelial dysfunction induced by contrast medium in patients with inflammatory disease and atherosclerosis.
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Quimiocina CCL2/biossíntese , Células Endoteliais da Veia Umbilical Humana/efeitos dos fármacos , Interleucina-4/farmacologia , Iohexol/análogos & derivados , Molécula 1 de Adesão de Célula Vascular/biossíntese , Animais , Adesão Celular/efeitos dos fármacos , Movimento Celular/efeitos dos fármacos , Células Cultivadas , Quimiocina CCL2/metabolismo , Meios de Contraste , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Feminino , Células Endoteliais da Veia Umbilical Humana/metabolismo , Humanos , Iohexol/farmacologia , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Camundongos , Camundongos Endogâmicos C57BL , Proteínas Proto-Oncogênicas c-akt/metabolismo , Fator de Transcrição STAT1/metabolismo , Transdução de Sinais , Células THP-1 , Molécula 1 de Adesão de Célula Vascular/metabolismoRESUMO
In this study, Mo3Se3- single-chain atomic crystals (SCACs) with atomically small chain diameters of â¼0.6 nm, large surface areas, and mechanical flexibility were synthesized and investigated as an extracellular matrix (ECM)-mimicking scaffold material for tissue engineering applications. The proliferation of L-929 and MC3T3-E1 cell lines increased up to 268.4 ± 24.4% and 396.2 ± 8.1%, respectively, after 48 h of culturing with Mo3Se3- SCACs. More importantly, this extremely high proliferation was observed when the cells were treated with 200 µg mL-1 of Mo3Se3- SCACs, which is above the cytotoxic concentration of most nanomaterials reported earlier. An ECM-mimicking scaffold film prepared by coating Mo3Se3- SCACs on a glass substrate enabled the cells to adhere to the surface in a highly stretched manner at the initial stage of cell adhesion. Most cells cultured on the ECM-mimicking scaffold film remained alive; in contrast, a substantial number of cells cultured on glass substrates without the Mo3Se3- SCAC coating did not survive. This work not only proves the exceptional biocompatible and bioactive characteristics of the Mo3Se3- SCACs but also suggests that, as an ECM-mimicking scaffold material, Mo3Se3- SCACs can overcome several critical limitations of most other nanomaterials.
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Materiais Biomiméticos/química , Matriz Extracelular/química , Molibdênio/química , Selênio/química , Alicerces Teciduais/química , Animais , Materiais Biocompatíveis/química , Adesão Celular , Linhagem Celular , Proliferação de Células , Cristalização , Camundongos , Modelos Moleculares , Engenharia TecidualRESUMO
Molecular marker technologies have proven to be an important breakthrough for genetic studies, construction of linkage maps and population genetics analysis. Transposable elements (TEs) constitute major fractions of repetitive sequences in plants and offer a wide range of possible areas to be explored as molecular markers. Sequence characterized amplified region (SCAR) marker development provides us with a simple and time saving alternative approach for marker development. We employed the CACTA-TD to develop SCARs and then integrated them into linkage map and used them for population structure and genetic diversity analysis of corn inbred population. A total of 108 dominant SCAR markers were designed out of which, 32 were successfully integrated in to the linkage map of maize RIL population and the remaining were added to a physical map for references to check the distribution throughout all chromosomes. Moreover, 76 polymorphic SCARs were used for diversity analysis of corn accessions being used in Korean corn breeding program. The overall average polymorphic information content (PIC) was 0.34, expected heterozygosity was 0.324 and Shannon's information index was 0.491 with a percentage of polymorphism of 98.67%. Further analysis by associating with desirable traits may also provide some accurate trait specific tagged SCAR markers. TE linked SCARs can provide an added level of polymorphism as well as improved discriminating ability and therefore can be useful in further breeding programs to develop high yielding germplasm.
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Elementos de DNA Transponíveis , Zea mays/genética , Mapeamento Cromossômico , Ligação Genética , Marcadores Genéticos , Variação Genética , Filogenia , Análise de Sequência de DNA , Zea mays/classificaçãoRESUMO
Axon initial segments (AISs) and nodes of Ranvier are sites of clustering of voltage-gated sodium channels (VGSCs) in nervous systems of jawed vertebrates that facilitate fast long-distance electrical signaling. We demonstrate that proximal axonal polarity as well as assembly of the AIS and normal morphogenesis of nodes of Ranvier all require a heretofore uncharacterized alternatively spliced giant exon of ankyrin-G (AnkG). This exon has sequence similarity to I-connectin/Titin and was acquired after the first round of whole-genome duplication by the ancestral ANK2/ANK3 gene in early vertebrates before development of myelin. The giant exon resulted in a new nervous system-specific 480-kDa polypeptide combining previously known features of ANK repeats and ß-spectrin-binding activity with a fibrous domain nearly 150 nm in length. We elucidate previously undescribed functions for giant AnkG, including recruitment of ß4 spectrin to the AIS that likely is regulated by phosphorylation, and demonstrate that 480-kDa AnkG is a major component of the AIS membrane "undercoat' imaged by platinum replica electron microscopy. Surprisingly, giant AnkG-knockout neurons completely lacking known AIS components still retain distal axonal polarity and generate action potentials (APs), although with abnormal frequency. Giant AnkG-deficient mice live to weaning and provide a rationale for survival of humans with severe cognitive dysfunction bearing a truncating mutation in the giant exon. The giant exon of AnkG is required for assembly of the AIS and nodes of Ranvier and was a transformative innovation in evolution of the vertebrate nervous system that now is a potential target in neurodevelopmental disorders.
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Anquirinas , Axônios/metabolismo , Evolução Molecular , Éxons , Nós Neurofibrosos , Transdução de Sinais , Potenciais de Ação/genética , Animais , Anquirinas/genética , Anquirinas/metabolismo , Camundongos , Camundongos Knockout , Mutação , Estrutura Terciária de Proteína , Nós Neurofibrosos/genética , Nós Neurofibrosos/metabolismo , RatosRESUMO
BACKGROUND: We evaluated the association of blood pressure (BP) with blood levels of cadmium, lead, and cadmium and lead together (cadmium + lead) in a representative sample of adolescents from Korea. METHODS: We used 2010-2016 data from the Korean National Health and Nutrition Examination Survey. This cross-sectional study enrolled adolescents aged at 10-18 years-old who completed a health examination survey and had blood measurements of lead and cadmium. The association of adjusted mean differences in diastolic and systolic BP with doubling of blood lead and cadmium were estimated by regression of BP against log2-transformed blood metals and their quartiles after covariate adjustment. Adjusted odds ratio for prehypertension were calculated for log2-transformed blood levels of lead and cadmium and their quartiles. RESULTS: Our analysis of adolescents in Korea indicated that blood levels of lead and cadmium were not significantly associated with increased BP or risk of prehypertension. However, the cadmium + lead level was associated with prehypertension. Previous studies showed that blood levels of lead and cadmium were associated with increased BP and risk of hypertension in adult populations. We found no such association in Korean adolescents. CONCLUSION: We found that the cadmium + lead level was associated with prehypertension. The differences between adults and adolescents are because adolescents generally have lower levels of these blood metals or because adolescents only rarely have hypertension.
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Pressão Sanguínea , Cádmio/sangue , Chumbo/sangue , Inquéritos Nutricionais , Pré-Hipertensão/sangue , Adolescente , Criança , Estudos Transversais , Diástole , Exposição Ambiental , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Razão de Chances , República da Coreia , Risco , SístoleRESUMO
Transposable elements (TEs), are a rich source for molecular marker development as they constitute a significant fraction of the eukaryotic genome and impact the overall genome structure. Here, we utilize Mutator-based transposon display (Mu-TD), and CACTA-derived sequence-characterized amplified regions (SCAR) anchored by simple sequence repeats and single nucleotide polymorphisms to locate quantitative trait loci (QTLs) linked to agriculturally important traits on a genetic map. Specifically, we studied recombinant inbred line populations derived from a cross between dent corn and waxy corn. The resulting linkage map included 259 Mu-anchored fragments, 34 SCARs, and 614 SSR markers distributed throughout the ten maize chromosomes. Linkage analysis revealed three SNP loci associated with kernel starch synthesis genes (sh2, su1, wx1) linked to either Mu-TD loci or SSR markers, which may be useful for maize breeding programs. In addition, we used QTL analysis to determine the chromosomal location of traits related to grain yield and kernel quality. We identified 24 QTLs associated with nine traits located on nine out of ten maize chromosomes. Among these, 13 QTLs involved Mu loci and two involved SCARs. This study demonstrates the potential use of DNA transposon-based markers to construct linkage maps and identify QTLs linked to agronomic traits.
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BACKGROUND: Genetically modified crops (GM crops) have been developed to improve the agricultural traits of modern crop cultivars. Safety assessments of GM crops are of paramount importance in research at developmental stages and before releasing transgenic plants into the marketplace. Sequencing technology is developing rapidly, with higher output and labor efficiencies, and will eventually replace existing methods for the molecular characterization of genetically modified organisms. METHODS: To detect the transgenic insertion locations in the three GM rice gnomes, Illumina sequencing reads are mapped and classified to the rice genome and plasmid sequence. The both mapped reads are classified to characterize the junction site between plant and transgene sequence by sequence alignment. RESULTS: Herein, we present a next generation sequencing (NGS)-based molecular characterization method, using transgenic rice plants SNU-Bt9-5, SNU-Bt9-30, and SNU-Bt9-109. Specifically, using bioinformatics tools, we detected the precise insertion locations and copy numbers of transfer DNA, genetic rearrangements, and the absence of backbone sequences, which were equivalent to results obtained from Southern blot analyses. CONCLUSION: NGS methods have been suggested as an effective means of characterizing and detecting transgenic insertion locations in genomes. Our results demonstrate the use of a combination of NGS technology and bioinformatics approaches that offers cost- and time-effective methods for assessing the safety of transgenic plants.
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Mapeamento Cromossômico/métodos , Biologia Computacional/métodos , Oryza/genética , Plantas Geneticamente Modificadas/genética , Transgenes , Toxinas de Bacillus thuringiensis , Proteínas de Bactérias/genética , Produtos Agrícolas/genética , DNA Bacteriano , Endotoxinas/genética , Dosagem de Genes , Genoma de Planta , Proteínas Hemolisinas/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Fluxo de TrabalhoRESUMO
INTRODUCTION: Limited information is available on the association of age and sex with blood concentrations of heavy metals in teenagers. In addition, factors such as a shared family environment may have an association. We analyzed data from the Korean National Health and Nutrition Examination Survey (KNHANES, 2010-2013) to determine whether blood levels of heavy metals differ by risk factors such as age, sex, and shared family environment in a representative sample of teenagers. METHODS: This study used data obtained in the KNHANES 2010-2013, which had a rolling sampling design that involved a complex, stratified, multistage, probability-cluster survey of a representative sample of the non-institutionalized civilian population in South Korea. Our cross-sectional analysis was restricted to teenagers and their parents who completed the health examination survey, and for whom blood measurements of cadmium, lead, and mercury were available. The final analytical sample consisted of 1585 teenagers, and 376 fathers and 399 mothers who provided measurements of blood heavy metal concentrations. RESULTS: Male teenagers had greater blood levels of lead and mercury, but sex had no association with blood cadmium level. There were age-related increases in blood cadmium, but blood lead decreased with age, and age had little association with blood mercury. The concentrations of cadmium and mercury declined from 2010 to 2013. The blood concentrations of lead, cadmium, and mercury in teenagers were positively associated with the levels in their parents after adjustment for covariates. CONCLUSION: Our results show that blood heavy metal concentrations differ by risk factors such as age, sex, and shared family environment in teenagers.
Assuntos
Cádmio/análise , Exposição Ambiental , Poluentes Ambientais/análise , Chumbo/análise , Mercúrio/análise , Adolescente , Fatores Etários , Carga Corporal (Radioterapia) , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Inquéritos Nutricionais , República da Coreia , Fatores de Risco , Fatores Sexuais , Adulto JovemRESUMO
We evaluated that carbohydrates and fatty acids intake modifies the prevalence of metabolic syndrome (MetS) and we also determined gender-nutrient interaction in 38,766 adults in KNHANES (2007-2014). Carbohydrate intake was positively associated, and fat intake inversely associated, with the incidence of MetS. The association exhibited a gender interaction with the macronutrient intake; this association was significant in females. Furthermore, saturated fatty acid (SFA), monounsaturated fatty acid (MUFA) and polyunsaturated fatty acid (PUFA) intakes were inversely associated with MetS risk and only females showed the positive association. Both n-3 and n-6 fatty acids intake showed inverse associations with MetS risk, similar to PUFA intake. Among the MetS components, serum triglyceride levels and blood pressure had significant inverse associations with fatty acid intake irrespective of fatty acid types and exhibited a gender interaction. In conclusions, high carbohydrate intakes (≥74.2 En%) may increase the MetS risk and moderate fat intakes (≥20.7 En%), irrespective of fat types, may decrease it. These associations were significant only in women.