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1.
BMC Plant Biol ; 23(1): 323, 2023 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-37328739

RESUMO

BACKGROUND: During domestication and subsequent improvement plants were subjected to intensive positive selection for desirable traits. Identification of selection targets is important with respect to the future targeted broadening of diversity in breeding programmes. Rye (Secale cereale L.) is a cereal that is closely related to wheat, and it is an important crop in Central, Eastern and Northern Europe. The aim of the study was (i) to identify diverse groups of rye accessions based on high-density, genome-wide analysis of genetic diversity within a set of 478 rye accessions, covering a full spectrum of diversity within the genus, from wild accessions to inbred lines used in hybrid breeding, and (ii) to identify selective sweeps in the established groups of cultivated rye germplasm and putative candidate genes targeted by selection. RESULTS: Population structure and genetic diversity analyses based on high-quality SNP (DArTseq) markers revealed the presence of three complexes in the Secale genus: S. sylvestre, S. strictum and S. cereale/vavilovii, a relatively narrow diversity of S. sylvestre, very high diversity of S. strictum, and signatures of strong positive selection in S. vavilovii. Within cultivated ryes we detected the presence of genetic clusters and the influence of improvement status on the clustering. Rye landraces represent a reservoir of variation for breeding, and especially a distinct group of landraces from Turkey should be of special interest as a source of untapped variation. Selective sweep detection in cultivated accessions identified 133 outlier positions within 13 sweep regions and 170 putative candidate genes related, among others, to response to various environmental stimuli (such as pathogens, drought, cold), plant fertility and reproduction (pollen sperm cell differentiation, pollen maturation, pollen tube growth), and plant growth and biomass production. CONCLUSIONS: Our study provides valuable information for efficient management of rye germplasm collections, which can help to ensure proper safeguarding of their genetic potential and provides numerous novel candidate genes targeted by selection in cultivated rye for further functional characterisation and allelic diversity studies.


Assuntos
Melhoramento Vegetal , Secale , Secale/genética , Sementes , Fenótipo , Citoplasma
2.
BMC Genomics ; 21(1): 845, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-33256606

RESUMO

BACKGROUND: Loss of genetic variation negatively impacts breeding efforts and food security. Genebanks house over 7 million accessions representing vast allelic diversity that is a resource for sustainable breeding. Discovery of DNA variations is an important step in the efficient use of these resources. While technologies have improved and costs dropped, it remains impractical to consider resequencing millions of accessions. Candidate genes are known for most agronomic traits, providing a list of high priority targets. Heterogeneity in seed stocks means that multiple samples from an accession need to be evaluated to recover available alleles. To address this we developed a pooled amplicon sequencing approach and applied it to the out-crossing cereal rye (Secale cereale L.). RESULTS: Using the amplicon sequencing approach 95 rye accessions of different improvement status and worldwide origin, each represented by a pooled sample comprising DNA of 96 individual plants, were evaluated for sequence variation in six candidate genes with significant functions on biotic and abiotic stress resistance, and seed quality. Seventy-four predicted deleterious variants were identified using multiple algorithms. Rare variants were recovered including those found only in a low percentage of seed. CONCLUSIONS: We conclude that this approach provides a rapid and flexible method for evaluating stock heterogeneity, probing allele diversity, and recovering previously hidden variation. A large extent of within-population heterogeneity revealed in the study provides an important point for consideration during rye germplasm conservation and utilization efforts.


Assuntos
Melhoramento Vegetal , Secale , Alelos , Variação Genética , Fenótipo , Secale/genética , Sementes
3.
Pol J Radiol ; 83: e94-e102, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30038684

RESUMO

PURPOSE: The purpose of this paper is to summarise and to present the experience of the main Polish centre for prenatal magnetic resonance imaging (MRI) and to discuss the place and role of MRI in antenatal diagnosis, management, and counselling. MATERIAL AND METHODS: Retrospective analysis of the examinations performed in the years 2001-2017. RESULTS: In total, 1221 medical records and/or image files were collected. The full documentation of ultrasonography and MRI referrals, reports, and images was not available in every case. During the first three years 98 pregnant women were examined (approximately 33 per year, one study per fortnight). After purchase of own MR scanner, the number of examinations grew constantly, reaching 208 in 2017, which means almost one per day, and the highest number was eight in one day. We examined 45 pairs of twins, including three pairs of conjoined twins. CONCLUSIONS: MRI at our Institute is a practically used second-line foetal imaging tool, necessary to confirm, complete, or correct sonographic diagnoses, with important impact on clinical decisions concerning management of pregnancy and of the neonate, termination of pregnancy, choice of the time, place, and mode of delivery, and neonatal care, as well as on counselling. In experienced hands, MRI is to date the last and the best non-invasive method of diagnosis in utero. It is frequently requested by the interdisciplinary team for foetal diagnosis and therapy and routinely performed in everyday practice.

4.
Dev Period Med ; 21(3): 259-265, 2017.
Artigo em Polonês | MEDLINE | ID: mdl-29077565

RESUMO

Obesity in children causes metabolic and structural changes in blood vessels which lead to the development of cardiovascular diseases and type 2 diabetes. AIM: The aim of the study was to assess the risk factors for atherosclerosis in obese children studied in the One-Day Hospitalization Department of the Institute of Mother and Child. MATERIAL AND METHODS: The study included 75 children aged 6-12 years (36 boys, 39 girls) with aBMI>97th percentile. The control group consisted of 36 children aged 5-10 years (18 boys, 18 girls) with a BMI of 75-90. Analysis was conducted of family history regarding obesity, CVD, dyslipidemia. The children's examination consisted of: BMI, waist circumference, cholesterol, LDL, HDL, triglycerides, and insulin. Both groups had their IMT (left and right) examined with ultrasound. RESULTS: In the study group 82.6% of the obese children had a positive family history of obesity and 72% of CVD and dyslipidemia. Regarding the children from the control group, 34.2% had a family history of obesity and 36.8 of CVD and dyslipidemia. The mean waist circumference in the obese children was 72.7 cm, while in the control group it was 59.9 (<0.001). The mean levels of lipids were higher in obese children (<0.001). The insulin level was almost twice as high as in the control group (±8.47 SD; <0.003). The mean IMT in obese patients was 0.36 mm; ±0.059 SD (right side) and 0.37 mm; ±0.033 SD (left side), while in the control group it was 0.32 mm; ±0.087 SD (right side) and 0.32 mm, ±0.082 SD (left side). The differences between the two groups were statistically significant. A positive correlation between waist circumference and insulin level was found (<0.003). CONCLUSIONS: Obesity and dyslipidemia are more common among children with familial obesity and CVD. Dyslipidemia is statistically more widespread among obese children. IMT is significantly higher in obese children compared with the control group, suggesting that changes in the structure of carotid atherosclerosis may occur in obese children in early childhood. This can be diagnosed using the noninvasive IMT method measured with ultrasound. Children with obesity, especially visceral, have higher levels of insulin, which may contribute to insulin resistance. Parents lack sufficient knowledge about the effects of childhood obesity and its effects on atherosclerosis and cardiovascular diseases. RESULTS: In the study group 82.6% of the obese children had a positive family history of obesity and 72% of CVD and dyslipidemia. Regarding the children from the control group, 34.2% had a family history of obesity and 36.8 of CVD and dyslipidemia. The mean waist circumference in the obese children was 72.7 cm, while in the control group it was 59.9 (<0.001). The mean levels of lipids were higher in obese children (<0.003). CONCLUSIONS: Obesity and dyslipidemia are more common among children with familial obesity and CVD. Dyslipidemia is statistically more widespread among obese children. IMT is significantly higher in obese children compared with the control group, suggesting that changes in the structure of carotid atherosclerosis may occur in obese children in early childhood. This can be diagnosed using the noninvasive IMT method measured with ultrasound. Children with obesity, especially visceral, have higher levels of insulin, which may contribute to insulin resistance. Parents lack sufficient knowledge about the effects of childhood obesity and its effects on atherosclerosis and cardiovascular diseases.


Assuntos
Aterosclerose/epidemiologia , Proteção da Criança/estatística & dados numéricos , Dislipidemias/epidemiologia , Resistência à Insulina , Obesidade Infantil/epidemiologia , Adiponectina/sangue , Aterosclerose/etiologia , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Dislipidemias/sangue , Dislipidemias/etiologia , Feminino , Nível de Saúde , Humanos , Masculino , Obesidade Infantil/sangue , Obesidade Infantil/complicações , Fatores de Risco
5.
Pol J Radiol ; 82: 227-232, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28507643

RESUMO

BACKGROUND: Tumors of the developmental age are an important problem in clinical practice. Primary bone tumors constitute 1-1.5% of all tumors, and 7% of all tumors diagnosed in the developmental age. The aim of the study was to assess the capabilities of imaging methods in diagnosing complications of limb endoprostheses in children with osteoarticular tumors. MATERIAL/METHODS: We included 155 patients with limb endoprostheses, aged 7-26 years. There were 113 patients with knee prostheses, 1 patient with bilateral knee prostheses, 16 patients with shoulder prostheses, 14 patients with hip prostheses, 11 patients with hip and knee prostheses, and 1 patient with a femoral prosthesis. All patients underwent plain radiography and an ultrasound study. RESULTS: Complications were found in 50 patients (32% of all patients). The following complications were seen - inflammatory changes in soft tissues and bones (12 patients, 7.7%), stump fractures (11 patients, 7%), lack of elongation effect or shortening of the prosthesis (7 patients, 4.5%), prosthesis fractures (4 patients, 2.5%), crural fractures (4 patients, 2.5%), loosening of the prosthesis (3 patients, 1.9%), joint dislocation (2 patients, 1.3%), stump and prosthesis fracture (1 patient, 0.6%) and local recurrence (6 patients, 3.9%). Prostheses were exchanged for the following reasons - fractures (5 patients, 3.2%), inflammation (2 patients with 3 exchanges, 1.9%). Local recurrence and inflammation were confirmed by a biopsy. CONCLUSIONS: Radiography and ultrasonography are of crucial importance in monitoring patients after implantation of limb endoprostheses. The findings did not require confirmation in additional studies: CT and MRI. Suspicion of local recurrence and inflammation required a biopsy confirmation.

6.
BMC Plant Biol ; 14: 184, 2014 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-25085433

RESUMO

BACKGROUND: Numerous rye accessions are stored in ex situ genebanks worldwide. Little is known about the extent of genetic diversity contained in any of them and its relation to contemporary varieties, since to date rye genetic diversity studies had a very limited scope, analyzing few loci and/ or few accessions. Development of high throughput genotyping methods for rye opened the possibility for genome wide characterizations of large accessions sets. In this study we used 1054 Diversity Array Technology (DArT) markers with defined chromosomal location to characterize genetic diversity and population structure in a collection of 379 rye accessions including wild species, landraces, cultivated materials, historical and contemporary rye varieties. RESULTS: Average genetic similarity (GS) coefficients and average polymorphic information content (PIC) values varied among chromosomes. Comparison of chromosome specific average GS within and between germplasm sub-groups indicated regions of chromosomes 1R and 4R as being targeted by selection in current breeding programs. Bayesian clustering, principal coordinate analysis and Neighbor Joining clustering demonstrated that source and improvement status contributed significantly to the structure observed in the analyzed set of Secale germplasm. We revealed a relatively limited diversity in improved rye accessions, both historical and contemporary, as well as lack of correlation between clustering of improved accessions and geographic origin, suggesting common genetic background of rye accessions from diverse geographic regions and extensive germplasm exchange. Moreover, contemporary varieties were distinct from the remaining accessions. CONCLUSIONS: Our results point to an influence of reproduction methods on the observed diversity patterns and indicate potential of ex situ collections for broadening the genetic diversity in rye breeding programs. Obtained data show that DArT markers provide a realistic picture of the genetic diversity and population structure present in the collection of 379 rye accessions and are an effective platform for rye germplasm characterization and association mapping studies.


Assuntos
Variação Genética , Secale/genética , Teorema de Bayes , Cruzamento , Mapeamento Cromossômico , Cromossomos de Plantas , Análise por Conglomerados , DNA de Plantas/genética , Marcadores Genéticos , Genética Populacional , Técnicas de Genotipagem , Análise de Componente Principal , Secale/classificação
7.
Neurol Neurochir Pol ; 48(1): 15-20, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24636765

RESUMO

BACKGROUND AND PURPOSE: The aim of the study was to assess anatomical variants and abnormalities in cerebral arteries on magnetic resonance angiography in 67 children with neurofibromatosis type 1 (NF1). MATERIALS AND METHODS: The study included 67 children aged 9 months to 18 years (mean 6.6 years). Control group comprised 90 children aged 2-18 years (mean: 11.8 years). All patients were examined at 1.5T scanner. RESULTS: We found cerebral arteriopathy (moyamoya disease) in one child (1.5%) in the study group. No aneurysms were found. Twenty-nine NF1 children (43.3%) had arterial anatomical variants. In 13 of them, more than one variant was diagnosed (44.8% of group with variants, 19.4% of study group). In control group, 19 children (21.1%) had variants, including four children with more than one variant (21% of group with variants, 4.4% of control group). Arterial variants were more common in NF1 patients compared with control group (p=0.026, binomial test for two proportions). Percentage of multiple variants was higher in study group than in control group, but this difference was not significant. Variants were more frequent on left side than on the right one (significant difference in control group; p=0.022, McNemara test). In study group, the number of left-sided anomalies (25) was similar to that of right-sided ones (22). There was no correlation between gender and variants, unidentified bright objects and variants or between optic gliomas and variants. CONCLUSIONS: Occurrence of arterial variants in NF1 patients was twofold higher than in control group. Multiple variants were more frequent in the study group although the difference did not reach statistical significance. Features of cerebral arteriopathy were found in one child with NF1.


Assuntos
Círculo Arterial do Cérebro/anormalidades , Círculo Arterial do Cérebro/patologia , Neurofibromatose 1/patologia , Adolescente , Doenças Arteriais Cerebrais/etiologia , Doenças Arteriais Cerebrais/patologia , Artérias Cerebrais/anormalidades , Artérias Cerebrais/patologia , Criança , Pré-Escolar , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Glioma do Nervo Óptico/complicações , Glioma do Nervo Óptico/patologia
8.
Dev Period Med ; 18(1): 27-32, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25171617

RESUMO

INTRODUCTION: Cleft lip and/or palate is the most common congenital craniofacial anomaly. Ultrasonography plays a key role in the early diagnosis of this anomaly and is completed by MRI. The purpose of this paper is to present and summarize the experience in diagnosis of cleft lip/palate by means of MRI. MATERIAL AND METHODS: The material consists of 62 fetuses that required more detailed evaluation which was conducted with the use of a 1.5 T scanner in SSFSE/T2 sequence in the sagittal, transverse and coronal plane. RESULTS: The cleft was diagnosed in 15 fetuses: an isolated cleft lip in one case (6.7%), a cleft lip and alveolar process in 2 (13.3%), a cleft lip and palate in 12 (80%). In eight fetuses (53.3%) the defect was unilateral, in 6 (40%) on both sides, in one case (6.7%) - a bilateral cleft lip and unilateral cleft palate was diagnosed. In three cases (20%), the cleft lip and/or palate defect was isolated, in 12 (80%) - it coexisted with other fetal abnormalities. MRI was less useful than ultrasound in 1 case (6.7%), in 4 cases (26.7%) it did not add any significant new information, in the remaining 10 cases (66.6%) important additional information was obtained on MRI. MRI revealed more details of the cleft in 5 cases (33.3%). In 10 fetuses (66.7%), cleft diagnosis was based on ultrasound and MRI only confirmed it. In 47 cases MRI allowed to show normal fetal faces, while there were difficulties of visualisation on ultrasound. CONCLUSIONS: Prenatal MRI is a method supporting fetal ultrasound and is used to confirm/expand sonographic diagnosis, but can also change it. In the case of cleft lip and palate fetal MRI produces a better picture of the connections between the cavities, the degree of involvement of the secondary palate and cleft extent, and also helps to detect/assess other associated fetal abnormalities.

9.
Pol J Radiol ; 79: 268-74, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25152798

RESUMO

BACKGROUND: Since 2003, very few publications have described brain examinations using neonatal MR-compatible incubator (INC). The authors present their first experience in these examinations, not limited to brain scans, with the use of an incubator equipped not only with head coil, but also with a coil designed for examinations of the spinal canal and spinal cord as well as the whole body, at the Institute of Mother and Child in Warsaw. MATERIAL/METHODS: Examinations were performed in 27 newborns (12 girls, 15 boys). Most of the neonates were prematurely born: 19 (70.4%) were born at gestational age of 23-37 weeks, mean of 30 weeks. They were examined at the corrected age of 26 weeks-1 month, mean of 36 weeks. Body weight of the newborns on the day of the study was 600-4,300 g, mean of 2,654 g. The study was performed with a GE Signa HDxT 1.5 T system with the use of a Nomag IC 1.5 incubator by Lammers Medical Technology Co., equipped with three coils: an eight-channel, phased-array head coil and a twelve-channel phased-array coil for the whole body, consisting of an eight-channel coil integrated in the incubator and a separate four-channel surface coil. RESULTS: Of the 27 children, 25 (92.6%) required a brain scan. Two children (7.4%) were referred to MRI for assessment of the spinal canal and the abdomen. We compared the results of transfontanelle ultrasound and MRI scans in 21 children. MRI provided significantly more diagnostic information in 18 cases (85.7%); in 3 cases (14.3%), no additional knowledge about the pathology was provided by the exam. CONCLUSIONS: The MR-compatible incubator increases the availability of MRI to newborns, especially premature newborns and those with low and extremely low body weight, for whom MR examinations are necessary to determine the extent of changes, not limited to the central nervous system, as well as to establish prognosis. Dedicated neonatal coils integrated with the incubator permit more accurate diagnosis than the previously used adult coils.

10.
Plant Cell Rep ; 32(1): 1-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23007688

RESUMO

Rye is one of the most important crops in Eastern and Northern Europe. Despite the numerous beneficial features of rye, its annual production decreases successively which correlates with the lack of progress in its breeding compared with other cereals. Biotechnological methods could effectively improve the breeding of rye. However, their application is highly limited by the absence of an efficient procedure for plant regeneration in vitro, since rye is one of the most recalcitrant cereals with regard to the tissue culture response (TCR), and successful regeneration is highly dependent on genotype. Efforts to understand the genetic mechanisms controlling TCR of rye have elucidated some basic aspects, and several genes and genome regions controlling this trait have been identified. The aim of this review is to summarize the limited current knowledge of this topic.


Assuntos
Secale/genética , Técnicas de Cultura de Tecidos/métodos , Cromossomos de Plantas/genética , Locos de Características Quantitativas/genética , Especificidade da Espécie
11.
J Perinat Med ; 41(5): 535-41, 2013 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-23612626

RESUMO

AIM: To present an experience with twin pregnancies underlining the impact of magnetic resonance imaging (MRI) on diagnosis and management. METHODS: There were 17 cases of twin pregnancies: nine monochorionic [including four monochorionic diamniotic and five monochorionic monoamniotic (conjoined twins)] and eight dichorionic. The MRI examinations were performed between 19 and 39 weeks of gestational age in two centers using 1.5 T scanners (GE Signa Excite and GE Signa HDxt; GE Healthcare, Waukesha, WI, USA), always after ultrasound (US). In the first period of our activity, SSFSE sequence in T2-weighted images (SSFSE/T2WI) was the main diagnostic tool supported by TSE or GRE T1-weighted images (T1WI). After upgrading the scanners, diffusion-weighted imaging (DWI), steady-state free precession (FIESTA), and echoplanar GRE imaging (EPIGRE) became available. RESULTS: In 11 cases (64.7%), MRI was superior to US and supplied additional information, including two cases in which pathology of the second twin suspected on US was ruled out on the basis of MRI. In six cases (35.3%) MRI confirmed US diagnosis and brought no new data. CONCLUSION: MRI offers more detailed assessment of fetal pathology in cases of twin pregnancies, including conjoined twins, in which sonographic evaluation is more difficult than in single cases.


Assuntos
Doenças em Gêmeos/diagnóstico por imagem , Doenças em Gêmeos/diagnóstico , Imageamento por Ressonância Magnética/métodos , Complicações na Gravidez/diagnóstico por imagem , Complicações na Gravidez/diagnóstico , Gravidez de Gêmeos , Ultrassonografia Pré-Natal , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/diagnóstico por imagem , Feminino , Humanos , Gravidez , Gêmeos Unidos/patologia , Gêmeos Dizigóticos , Gêmeos Monozigóticos
12.
Ginekol Pol ; 84(6): 436-43, 2013 Jun.
Artigo em Polonês | MEDLINE | ID: mdl-24032261

RESUMO

BACKGROUND: It has been shown that MRI offers the possibility of more detailed assessment of fetal pathology than sonography. It is used not only to diagnose but also to follow up some prenatal diseases. It is a basis of in utero treatment and the tool of monitoring its efficacy The purpose of the study was to present the authors' experience with prenatal MRI as a method of follow-up of fetal pathology and of monitoring invasive fetal therapy MATERIAL AND METHODS: The study group consisted of 31 fetuses that underwent two MRI examinations. The first exams were performed at the gestational age of 19-28 weeks (mean: 23.6 weeks), the follow-up between week 20 and 37 (mean: 30.5). The MRI examinations were performed using 1.5 T scanners. SSFSE/T2-weighted images, TSE/ or GRE/T1-weighted images, DWI, FIESTA, EPIGRE were performed. RESULTS: In 5 cases MRI allowed to exclude a suspected pathology: brain anomaly in a healthy fetus, septo-optic dysplasia in a healthy fetus, right-sided CDH in case of a left-sided pathology pentalogy of Cantrell, lack of bladder in a fetus with a small, thick-walled bladder In 4 cases an additional pathology was detected on MRI: CCAM/ pulmonary sequestration with self-regression, cerebellar hypoplasia, rhombencephalosynapsis, tethered cord with syringohydromyelia. In 4 cases MRI was used just to follow-up and showed evolution of the disease in 2 cases: regression of intracerebral hemorrhage, progression of kidney disease. Finally, in 18 cases MRI was performed before and after an open fetal surgery of myelomeningocele showing good outcome in 10 cases and a wide spectrum of complications in 8 neonates: from edema of the transplant only in 4 to recurrent MC in 1. CONCLUSIONS: Maternal uterus constitutes a natural "incubator" for the fetus--it is easier and safer to perform diagnostic procedure in utero than in a seriously ill newborn. MRI is a method of choice in the diagnosis and of follow-up in cases of open fetal surgery.


Assuntos
Doenças Fetais/diagnóstico , Doenças Fetais/patologia , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Cuidado Pré-Natal/métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
13.
Pol J Radiol ; 78(3): 57-60, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24115961

RESUMO

Miliary brain metastases are very rarely described in the literature but if they are, they are quite obvious on magnetic resonance imaging (MRI) and enhance after intravenous administration of the contrast medium. The authors presented a case of miliary metastatic spread to the brain which was invisible on computed tomography and hardly visible on MRI, i.e. as countless, tiny, slightly T1-hyperintense foci that did not enhance. The authors discussed a few T1-hyperintense brain lesions which did not include metastases (except for metastatic melanoma which was a radiological suggestion after brain MRI). Autopsy revealed papillary adenocarcinoma of the lung with numerous metastatic lesions in both cerebral and cerebellar hemispheres and the meninges.

14.
PLoS One ; 18(8): e0287798, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37607184

RESUMO

BACKGROUND: Wheat grain protein, zinc (Zn), and iron (Fe) content are important wheat qualities crucial for human nutrition and health worldwide. Increasing these three components simultaneously in wheat grains by a single gene came into the picture through NAM-B1 cloning. NAM-B1 gene and its association with the mentioned grain quality traits have been primarily studied in common and durum wheat and their progenitors T. dicoccum and T. dicoccoides. METHOD: In the present study, for the first time, 38 wheat accessions comprising ten hexaploids from five species and 28 tetraploids from nine species were evaluated in the field for two consecutive years. Additionally, the 582 first nucleotides of the NAM-B1 gene were examined. RESULT: The NAM-B1 gene was present in 21 tetraploids and five hexaploid accessions. Seven tetraploid accessions contained the wild-type allele (five T. dicoccum, one T. dicoccoides, and one T. ispahanicum) and fourteen the mutated allele with a 'T' insertion at position 11 in the open reading frame, causing a frameshift. In hexaploid wheat comprising the gene, only one accession of T. spelta contained the wild-type allele, and the rest resembled the insertion mutated type. In the two-year field experiment, eight accessions with the wild-type NAM-B1 allele had significantly higher protein, Zn and Fe grain content when compared to indel-type accessions. Additionally, these accessions exhibited a lower mean for seed-filling duration than all other accessions containing indel-type alleles. In terms of grain yield, 1,000-kernel weight, kernel diameter, and kernel length, T. dicoccum accessions having wild-type alleles were similar to the indel-type accessions over two years of evaluation. CONCLUSION: These findings further support the possibility of simultaneous improvement of wheat grain protein, Zn, and Fe content by a single gene crucial for human nutrition and health worldwide.


Assuntos
Proteínas de Grãos , Triticum , Humanos , Triticum/genética , Tetraploidia , Alelos , Grão Comestível/genética
15.
Nat Genet ; 53(4): 564-573, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33737754

RESUMO

Rye (Secale cereale L.) is an exceptionally climate-resilient cereal crop, used extensively to produce improved wheat varieties via introgressive hybridization and possessing the entire repertoire of genes necessary to enable hybrid breeding. Rye is allogamous and only recently domesticated, thus giving cultivated ryes access to a diverse and exploitable wild gene pool. To further enhance the agronomic potential of rye, we produced a chromosome-scale annotated assembly of the 7.9-gigabase rye genome and extensively validated its quality by using a suite of molecular genetic resources. We demonstrate applications of this resource with a broad range of investigations. We present findings on cultivated rye's incomplete genetic isolation from wild relatives, mechanisms of genome structural evolution, pathogen resistance, low-temperature tolerance, fertility control systems for hybrid breeding and the yield benefits of rye-wheat introgressions.


Assuntos
Mapeamento Cromossômico/métodos , Genoma de Planta , Melhoramento Vegetal/métodos , Proteínas de Plantas/genética , Secale/genética , Triticum/genética , Adaptação Fisiológica/genética , Produtos Agrícolas/genética , Produtos Agrícolas/imunologia , Regulação da Expressão Gênica de Plantas , Introgressão Genética , Cariótipo , Imunidade Vegetal/genética , Proteínas de Plantas/metabolismo , Secale/imunologia , Estresse Fisiológico
16.
Pol J Radiol ; 75(3): 7-16, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22802785

RESUMO

BACKGROUND: Magnetic resonance imaging is a commonly used method of monitoring of soft tissue tumours. The aim of the work was to describe precisely the typical changes within soft tissues and bones occurring after radiotherapy in children treated for sarcomas and other soft tissue tumours. With time, the changes undergo evolution and their characteristics and comparison with previous examinations help in a difficult differentiation between tumour lesions and posttherapeutic changes. MATERIAL/METHODS: Fifteen children and young adolescents (9 boys and 6 girls) aged between 2 and 22 years (mean age of 13.4 years) with diagnosed aggressive soft tissue tumours, were treated with radiotherapy. There were 102 MRI examinations analysed in the period from February 2004 to February 2008. The examinations were performed with a 1.5T MRI scanner in the following sequences: SE T1, SE T1+fatsat, before and after gadolinium administration (Gd), FSE T2 and STIR in three planes, and, in some selected cases, a dynamic gadolinium-enhanced (DCE MRI) examination with FAME sequence. HISTOPATHOLOGICAL EXAMINATIONS SHOWED: rhabdomyosarcoma (RMS) in 8 cases, synovial sarcoma - 3, agressive desmoid fibroma - 3, mesenchymoma mal. - 1. MRI examinations were performed at different postradiotherapeutic stages, several times in one patient (12 times at the most). RESULTS: Every postirradiation stage revealed a typical picture of posttherapeutic changes. We distinguished four stages and described changes in different sequences within soft tissues and bones, as well as features of contrast enhancement and enhancement curves in a dynamic study. The stages included: I stage - early, up to 3 months after rth, II stage - chronic, from 3 months to 12 months after rth, with some differences between the following periods: • 3-9 months; 9-12 months; III stage - late, from 1 to 3 years after rth, IV stage - distant, more than 3 years after rth. In the early stage, there were 2 cases with a suspicious, equivocal image of postradiotherapeutic changes. In the chronic stage, there was one recurrence and one case of increasing changes after the therapy. However, the changes resolved in subsequent examinations. In the distant stage, we found two cases of a local recurrence. CONCLUSIONS: 1. MRI is a method of choice in the monitoring of treatment of aggressive soft tissue tumours and in diagnosis of recurrence. 2. To interpret the examination results, it is very important to know the MRI characteristics of changes after radiotherapy and their evolution with time. 3. Interpretation of MRI images and differentiation between postradiotherapeutic and neoplastic changes is difficult, especially at an early postradiotherapeutic stage. 4. A dynamic MRI examination may be useful in the differentiation between postradiotherapeutic and neoplastic changes but it may be unreliable at an early postradiotherapeutic stage. 5. When interpreting the results, it is very important to compare the image with the previous ones. It is therefore indicated to carry out a baseline MRI in the early postradiotherapeutic stage, and then further follow-up images, at several-month intervals.

17.
J Mother Child ; 24(1): 13-18, 2020 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-33074177

RESUMO

INTRODUCTION: In countries where Haemophilus influenzae type B vaccine is used, Streptococcus pneumoniae is the most common cause of bacterial meningitis in young children and notable cause of morbidity/mortality. The authors present material of magnetic resonance imaging (MRI) of patients with pneumococcal meningitis from archive of Department of Diagnostic Imaging of Institute of Mother and Child in Warsaw. MATERIALS AND METHODS: We performed 27 brain MRI scans and 1 follow-up computed tomography (CT) in 10 children (2 girls and 8 boys) aged from neonate to 5 years at disease onset with proven pneumococcal infection. RESULTS: Follow-up period range was 0-12 years. Two children underwent only one MRI, one of them died before follow-up and the other was lost from further observation. There was one case of relatively benign disease course with mild changes on MRI. In another seemingly benign case, acute transient hydrocephalus was observed. Six children developed hydrocephalus, and two required ventriculoperitoneal shunting complicated by neuroinfection, shunt malfunction and revisions. Two patients developed epilepsy. In six children, spastic paresis of various severity was diagnosed, up to quadriplegia in one who is under the longest observation (>12 years) and survived in vegetative state. Three other children suffer from delayed psychomotor development to severe intellectual disability. CONCLUSIONS: MRI shows perfectly the degree of central nervous system (CNS) damage during and after pneumococcal invasion. Despite appropriate treatment, disease course may be unpredictably serious. Attempts to eliminate the obligation to vaccinate are extremely irresponsible taking into account potential danger of death, vegetative state or another form of severe damage to CNS. Social and financial costs of care of survivors are very high with shunts placements and changes, (neuro)infections, rehabilitation, families breakdown, etc.


Assuntos
Deficiência Intelectual/etiologia , Meningite Pneumocócica/complicações , Criança , Seguimentos , Transtornos da Audição/etiologia , Humanos , Hidrocefalia/etiologia , Imageamento por Ressonância Magnética , Masculino , Transtornos dos Movimentos/etiologia , Polônia , Prognóstico , Fatores de Risco , Streptococcus pneumoniae/isolamento & purificação
18.
BMC Genomics ; 10: 578, 2009 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-19958552

RESUMO

BACKGROUND: Implementation of molecular breeding in rye (Secale cereale L.) improvement programs depends on the availability of high-density molecular linkage maps. However, the number of sequence-specific PCR-based markers available for the species is limited. Diversity Arrays Technology (DArT) is a microarray-based method allowing for detection of DNA polymorphism at several thousand loci in a single assay without relying on DNA sequence information. The objective of this study was the development and application of Diversity Arrays technology for rye. RESULTS: Using the PstI/TaqI method of complexity reduction we created a rye diversity panel from DNA of 16 rye varieties and 15 rye inbred lines, including parents of a mapping population consisting of 82 recombinant inbred lines. The usefulness of a wheat diversity panel for identification of DArT markers for rye was also demonstrated. We identified 1022 clones that were polymorphic in the genotyped ILs and varieties and 1965 clones that differentiated the parental lines L318 and L9 and segregated in the mapping population. Hierarchical clustering and ordination analysis were performed based on the 1022 DArT markers to reveal genetic relationships between the rye varieties and inbred lines included in the study. Chromosomal location of 1872 DArT markers was determined using wheat-rye addition lines and 1818 DArT markers (among them 1181 unique, non-cosegregating) were placed on a genetic linkage map of the cross L318 x L9, providing an average density of one unique marker every 2.68 cM. This is the most saturated rye linkage map based solely on transferable markers available at the moment, providing rye breeders and researches with a better choice of markers and a higher probability of finding polymorphic markers in the region of interest. CONCLUSION: The Diversity Arrays Technology can be efficiently and effectively used for rye genome analyses - assessment of genetic similarity and linkage mapping. The 11520-clone rye genotyping panel with several thousand markers with determined chromosomal location and accessible through an inexpensive genotyping service is a valuable resource for studies on rye genome organization and in molecular breeding of the species.


Assuntos
Mapeamento Cromossômico/métodos , Variação Genética , Genoma de Planta/genética , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Secale/genética , Cruzamento , Cromossomos de Plantas/genética , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Marcadores Genéticos , Taq Polimerase/metabolismo
19.
Adv Clin Exp Med ; 28(7): 945-954, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31111693

RESUMO

BACKGROUND: The use of a specialized MR-compatible incubator (INC) is very poorly described in the literature and only with regard to brain imaging. OBJECTIVES: To present our own experience with brain and body magnetic resonance imaging (MRI) in the INC in a large cohort of neonates. MATERIAL AND METHODS: A total of 555 examinations were performed in 530 newborns with the use of a 1.5T system and Nomag IC 1.5 incubator, equipped with head and body coils. RESULTS: More than half of neonates (54%) were prematurely born at 22 + 6-36 + 6 gestational weeks. They were examined from the first to 153 days of life (median: 18.5, mean: 37.7) with body weights 600-5000 g (mean: 3051 g), 23% of less than 2500 g. The proportion of brain MRIs to other body regions was 533:85 = 86%:14%. In 36.6% of cases, MRI showed more abnormalities than ultrasound (USG), in a further 21.8%, MRI diagnosis was completely different, in 4.7%, a pathology described on a USG was ruled out on MRI. The superiority of MRI over USG was 63.1%. CONCLUSIONS: MR-compatible incubator significantly increased the availability of MRI to newborns, especially to premature and unstable newborns. The integration of body coils into the INC increased the spectrum of examinations and made possible the scanning not only of the brain but also the body. Dedicated neonatal coils improved image quality and allowed more accurate diagnosis than the previously used adult coils. Immobilization of the babies in the INC by means of Velcro belts and head fixation inserts is better than in adult coils. The closed space of the INC isolates newborns to a greater extent from the negative influence of noise in the MR environment.


Assuntos
Incubadoras para Lactentes , Imageamento por Ressonância Magnética/instrumentação , Imageamento por Ressonância Magnética/métodos , Neuroimagem , Imagem Corporal Total , Encéfalo , Humanos , Recém-Nascido , Neuroimagem/métodos
20.
Sci Rep ; 8(1): 8428, 2018 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-29849048

RESUMO

Identification of bacterial artificial chromosome (BAC) clones containing specific sequences is a prerequisite for many applications, such as physical map anchoring or gene cloning. Existing BAC library screening strategies are either low-throughput or require a considerable initial input of resources for platform establishment. We describe a high-throughput, reliable, and cost-effective BAC library screening approach deploying genotyping platforms which are independent from the availability of sequence information: a genotyping-by-sequencing (GBS) method DArTSeq and the microarray-based Diversity Arrays Technology (DArT). The performance of these methods was tested in a very large and complex rye genome. The DArTseq approach delivered superior results: a several fold higher efficiency of addressing genetic markers to BAC clones and anchoring of BAC clones to genetic map and also a higher reliability. Considering the sequence independence of the platform, the DArTseq-based library screening can be proposed as an attractive method to speed up genomics research in resource poor species.


Assuntos
Cromossomos Artificiais Bacterianos/genética , Técnicas de Genotipagem/métodos , Secale/genética , Análise de Sequência , Cromossomos de Plantas/genética , Clonagem Molecular , Genoma de Planta/genética
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