Characterization of 14 Triticum species for the NAM-B1 gene and its associated traits.

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.

Selective sweeps identification in distinct groups of cultivated rye (Secale cereale L.) germplasm provides potential candidate genes for crop improvement.

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.

Chromosome-scale genome assembly provides insights into rye biology, evolution and agronomic potential.

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.

Deep sampling and pooled amplicon sequencing reveals hidden genic variation in heterogeneous rye accessions.

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.

Pneumococcal Meningitis and Its Sequelae - A Devastating CNS Disease.

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.

Neonatal brain and body imaging in the MR-compatible incubator.

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.

Seventeen years of prenatal magnetic resonance imaging at the Institute of Mother and Child in Warsaw.

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.

Effective BAC clone anchoring with genotyping-by-sequencing and Diversity Arrays Technology in a large genome cereal rye.

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.

[Risk factors for atherosclerosis in obese children aged 6-12 years].

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.

Imaging of Complications After Limb Prostheses Implantation in Children with Bone Tumors.

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.

CNS Metastases from Bone and Soft Tissue Sarcomas in Children, Adolescents, and Young Adults: Are They Really So Rare?

Purpose. To check whether primary involvement of brain/spinal cord by bone/soft tissue sarcomas' metastases in children is as rare as described and to present various morphological forms of bone/soft tissue sarcomas' CNS metastases. Methods. Patients with first diagnosis in 1999-2014 treated at single center were included with whole course of disease evaluation. Brain/spinal canal magnetic resonance imaging (MRI)/computed tomography were performed in cases suspicious for CNS metastases. Extension from skull/vertebral column metastases was excluded. Results. 550 patients were included. MRI revealed CNS metastases in 19 patients (incidence 3.45%), 14 boys, aged 5-22 years. There were 12/250 osteosarcoma cases, 2/200 Ewing's sarcoma, 1/50 chondrosarcoma, 3/49 rhabdomyosarcoma (RMS), and 1/1 malignant mesenchymoma. There were 10 single metastases and 7 cases of multiple ones; in 2 RMS cases only leptomeningeal spread in brain and spinal cord was found. Calcified metastases were found in 3 patients and hemorrhagic in 4. In one RMS patient there were numerous solid, cystic, hemorrhagic lesions and leptomeningeal spread. Conclusions. CNS metastases are rare and late in children with bone/soft tissue sarcomas, although in our material more frequent (3.45%) than in other reports (0.7%). Hematogenous spread to brain and hemorrhagic and calcified lesions dominated in osteosarcoma. Ewing sarcoma tended to metastasize to skull bones. Soft tissue sarcomas presented various morphological forms.

Diffusion restriction in the corticospinal tracts and the corpus callosum in neonates after cerebral insult.

BACKGROUND: In neonatal brains diffusion restriction, which is not limited to the region of insult, but is also found in distant locations from it seems to be a frequent finding, called pre-Wallerian degeneration. OBJECTIVES: The purpose of this study was to describe these findings and to estimate the frequency of their occurrence with an attempt to determine their clinical significance. METHODS: 125 brain MRI examinations of neonates with confirmed brain damage performed or consulted in our Institute were retrospectively reviewed, focusing on the presence of restricted diffusion in corticospinal tracts (CST) and corpus callosum (CC). Apparent diffusion coefficients (ADC) were measured in callosal splenium and compared to normal neonatal brains. RESULTS: Restricted diffusion was found in 21 newborns (16.8%): in 4 in CST (3.2%), in 5 in CC (4.0%), in 12 in both (9.6%). Mean ADC value in CC was 0.638, standard deviation (SD): 0.211µm2/s and in the control group 0.995, SD: 0.162µm2/s (p=0,001). CONCLUSIONS: Neonatal brain MRI should be searched for DWI abnormalities which are not rare and require careful studying of ADC maps. Diffusion restriction in the corpus callosum and/or corticospinal tracts below the region of insult should not be mistaken for acute ischemia as it most likely reflects early phase of secondary neuronal degeneration called pre-Wallerian degeneration. This finding helps in prognostication and guides the management of the affected neonates.

DArT Markers Effectively Target Gene Space in the Rye Genome.

Large genome size and complexity hamper considerably the genomics research in relevant species. Rye (Secale cereale L.) has one of the largest genomes among cereal crops and repetitive sequences account for over 90% of its length. Diversity Arrays Technology is a high-throughput genotyping method, in which a preferential sampling of gene-rich regions is achieved through the use of methylation sensitive restriction enzymes. We obtained sequences of 6,177 rye DArT markers and following a redundancy analysis assembled them into 3,737 non-redundant sequences, which were then used in homology searches against five Pooideae sequence sets. In total 515 DArT sequences could be incorporated into publicly available rye genome zippers providing a starting point for the integration of DArT- and transcript-based genomics resources in rye. Using Blast2Go pipeline we attributed putative gene functions to 1101 (29.4%) of the non-redundant DArT marker sequences, including 132 sequences with putative disease resistance-related functions, which were found to be preferentially located in the 4RL and 6RL chromosomes. Comparative analysis based on the DArT sequences revealed obvious inconsistencies between two recently published high density consensus maps of rye. Furthermore we demonstrated that DArT marker sequences can be a source of SSR polymorphisms. Obtained data demonstrate that DArT markers effectively target gene space in the large, complex, and repetitive rye genome. Through the annotation of putative gene functions and the alignment of DArT sequences relative to reference genomes we obtained information, that will complement the results of the studies, where DArT genotyping was deployed, by simplifying the gene ontology and microcolinearity based identification of candidate genes.

Structural characteristics of ScBx genes controlling the biosynthesis of hydroxamic acids in rye (Secale cereale L.).

Benzoxazinoids (BX) are major secondary metabolites of gramineous plants that play an important role in disease resistance and allelopathy. They also have many other unique properties including anti-bacterial and anti-fungal activity, and the ability to reduce alfa-amylase activity. The biosynthesis and modification of BX are controlled by the genes Bx1 ÷ Bx10, GT and glu, and the majority of these Bx genes have been mapped in maize, wheat and rye. However, the genetic basis of BX biosynthesis remains largely uncharacterized apart from some data from maize and wheat. The aim of this study was to isolate, sequence and characterize five genes (ScBx1, ScBx2, ScBx3, ScBx4 and ScBx5) encoding enzymes involved in the synthesis of DIBOA, an important defense compound of rye. Using a modified 3D procedure of BAC library screening, seven BAC clones containing all of the ScBx genes were isolated and sequenced. Bioinformatic analyses of the resulting contigs were used to examine the structure and other features of these genes, including their promoters, introns and 3'UTRs. Comparative analysis showed that the ScBx genes are similar to those of other Poaceae species, especially to the TaBx genes. The polymorphisms present both in the coding sequences and non-coding regions of ScBx in relation to other Bx genes are predicted to have an impact on the expression, structure and properties of the encoded proteins.

Stenogyria - not only in Chiari II malformation.

Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory.

The role of magnetic resonance imaging in the prenatal diagnosis of cleft lip and palate.

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.

First Experience with Neonatal Examinations with the Use of MR-Compatible Incubator.

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.

Genome-wide characterization of genetic diversity and population structure in Secale.

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.

Circle of Willis abnormalities in children with neurofibromatosis type 1.

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.