Goldsteinhatch8533

8 (3.2-4.5) g/L vs 5.7 (4.8-6.2) g/L, P  < 0.0032]. serum homocysteine levels were lower in healthy controls than in CD (P = 0.176) and UC (P = 0.026). An increased level ofhomocysteine in UC with a homozygous mutation in the methylene tetrahydrofolate reductase C677T gene was also observed.

Our study showed that children with IBD have clinical features, acquired and congenital factors that can increase thrombotic risk, similarly to adults.

Our study showed that children with IBD have clinical features, acquired and congenital factors that can increase thrombotic risk, similarly to adults.

Multiparametric magnetic resonance imaging and targeted biopsy have been widely accepted as the most accurate technique to detect localize prostate cancer. It is a time-consuming and expensive option and may not be widely available in China, making ultrasound the first choice for the detection of prostate cancer. In this current retrospective study, the diagnostic values of enhanced transrectal ultrasound, contrast-enhanced transrectal ultrasound, and real-time sonoelastography were evaluated. Symptomatic 315 men older than 40 years with prostate-specific antigen level greater than 4.0 ng/mL, with abnormal digital rectal examinations, and with suspicious lesions for prostate cancer under enhanced transrectal ultrasound included in the study. Enhanced transrectal ultrasound was suspicious in all 315 men, with 189 of 315 men with prostate cancer according to the prostate biopsy report. Sonoelastography was suspicious in 294 of 315 men, with 166 of 315 men with prostate cancer according to the prostate biopsy l-time sonoelastography alone and contrast-enhanced transrectal ultrasound alone were missed in 27 (11%) and 39 (15%) lesions to report cancer through biopsies. Working area for enhanced transrectal ultrasound, real-time sonoelastography, and contrast-enhanced transrectal ultrasound for detection of prostate cancer were 0 to 1 diagnostic confidence, 0.11 to 0.895 diagnostic confidence, and 0.39 to 0.63 diagnostic confidence respectively. Real-time sonoelastography and contrast-enhanced transrectal ultrasound may improve the detection of prostate cancer in men with suspicious prostate lesions under enhanced transrectal ultrasound (Level of Evidence III; Technical Efficacy Stage 2).

The extrapelvic portion of the vas deferens is readily visible with ultrasound but often overlooked. Several publications have described the scanning technique and the normal anatomy of the vas deferens. Sonographic evaluation of the vas deferens provides critical information in the workup of male infertility. Obstruction, inflammatory conditions, and neoplasms of the vas deferens can also be diagnosed with ultrasound. Knowledge of the normal and abnormal appearance of the vas deferens improves scans of the scrotum and expands the conditions that can be recognized and accurately diagnosed with ultrasound.

The extrapelvic portion of the vas deferens is readily visible with ultrasound but often overlooked. Several publications have described the scanning technique and the normal anatomy of the vas deferens. Sonographic evaluation of the vas deferens provides critical information in the workup of male infertility. Obstruction, inflammatory conditions, and neoplasms of the vas deferens can also be diagnosed with ultrasound. Knowledge of the normal and abnormal appearance of the vas deferens improves scans of the scrotum and expands the conditions that can be recognized and accurately diagnosed with ultrasound.Clinicopathologic profile and outcome of 15 children (15 years or above) with diffuse large B-cell lymphoma treated with MCP-842 protocol are reported. Eleven of 15 presented with advanced (stage-III/IV) disease. Post-2 cycles of chemotherapy, complete metabolic and morphologic response was documented in 10 (66%) and rest 5 (33%) with partial response achieved complete metabolic remission by end of treatment. At a median follow-up of 44 months (range 16 to 79 mo), the 3-year event-free survival and overall-survival were 77.1%±11.7% and 85.7%±9.4%, respectively. Though majority of our patients had advanced disease, outcome on MCP-842 protocol was satisfactory.

During the first lockdown of the coronavirus disease 2019 (COVID-19) pandemic, we developed a teleconsultation model and conducted a survey-based study with the aim to evaluate satisfaction and emotions of health workers (HWs), to assess the feasibility of teleconsultations, and to evaluate technical issues.

This is a prospective monocentric exploratory study based on synchronous, video consultations between HWs and pediatric patients treated for blood or solid malignancies or blood benign diseases. Every HW completed an online survey which covered technical aspects, data concerning satisfaction, quality of the interaction with the patient, and emotions felt after the teleconsultation. A score was calculated for each aspect.

Eleven specialists participated in the study, and we selected 84 questionnaires. With a satisfaction rate of 74%, HWs felt mostly calm (80%), relaxed (70%), stress-free (69%), and relieved (65%). We calculated the following median scores an overall satisfaction score of 6.67 (0 to 10), a global feeling score of 8.79 (3.33 to 10.00), and a quality score of 7.34 (2.50 to 10.00). A strong correlation between the quality of teleconsultation and the satisfaction of the HWs has been highlighted (r=0.588).

Our series is an encouragingly positive experience from the perspective of the HWs, their feelings, and perceptions.

Our series is an encouragingly positive experience from the perspective of the HWs, their feelings, and perceptions.

The aim was to determine the impact of time to diagnosis (TTD) on morbidity and mortality and to identify factors associated with overall survival (OS) in pediatric patients with malignant central nervous system (CNS) tumors.

This is a retrospective review of all malignant CNS tumors presenting to 2 tertiary care pediatric hospitals from 2000 to 2019. Cox proportional hazard model analysis outcomes included TTD and OS as well as morbidity; stratified by tumor category, age, relapse, and presence of metastatic disease.

There were 197 children with malignant CNS tumors (mean age 8.7 y, 61% male). Tumors included medulloblastoma (N=58, 29.4%), ependymoma (N=27, 13.7%), high-grade glioma (N=42, 21.3%), germ cell tumors (N=47, 23.9%), and other embryonal tumors (N=23, 11.7%). Median TTD from symptom onset was 62 (interquartile range 26.5 to 237.5 d) and 28% had metastatic disease. Three-year progression free survival was 55% and 3-year OS was 73.1%. Increased OS was associated with increased TTD (parameter estimate 0.12; confidence interval [CI] 0.019-7.06; P=0.019), high-grade glioma (hazard ratio [HR] 2.46; CI [1.03-5.86]; P=0.042), other embryonal tumor (HR 2.84; CI [1.06-7.56]; P=0.037), relapse (HR 10.14; CI 4.52-22.70; P<0.001) and metastatic disease (HR 3.25; CI 1.51-6.96; P=0.002). Vision change (HR 0.58; CI 0.313-1.06; P=0.078), hearing loss (HR 0.71; CI 0.35-1.42; P=0.355), and cognitive impairment (HR 0.73; CI 0.45-1.19; P=0.205) were not associated with TTD in this model.

Increased median TTD is associated with higher OS in pediatric patients treated for malignant CNS tumors. Tumor biology and treatment modality are more important factors than TTD for predicting morbidity and long-term outcomes in pediatric patients with CNS tumors.

Increased median TTD is associated with higher OS in pediatric patients treated for malignant CNS tumors. Tumor biology and treatment modality are more important factors than TTD for predicting morbidity and long-term outcomes in pediatric patients with CNS tumors.Secondary neoplasms (SNs) are being increasingly identified in long-term survivors of childhood cancer. Phyllodes tumor (PT) form a distinctly uncommon SN. We report a series of 6 female childhood cancer survivors who developed PT as SN. The median age at primary diagnosis was 13 years. Their primary tumors were bone sarcoma (4) and acute leukemia (2), and all were treated with chemotherapy, predominantly with alkylating agents and/or anthracyclines. None had received direct radiotherapy to the chest wall. Subsequently, PT were detected after a median interval of 7.5 years, with 2 patients developing bilateral and malignant PT. The series highlights a rare SN in childhood cancer survivors, underscoring the importance of regular long-term follow-up.Assestment of minimal residual disease (MRD) in childhood acute lymphoblastic leukemia (ALL) is of utmost importance both for risk classification and tailoring of the therapy. The data of pediatric ALL patients that received treatment with Berlin-Frankfurt-Münster (BFM) protocols were retrospectively collected from 5 university hospitals in Turkey. Of the 1388 patients enrolled in the study 390 were treated according to MRD-based protocols. MRD assestment was with real time quantitative polymerase chain reaction (qPCR) in 283 patients and with multiparametric flow cytometry (MFC)-MRD in 107 patients. MRD monitoring had upstaged a total of 8 patients (2%) from intermediate risk group to high-risk group. Univariate analysis revealed age 10 years or above, prednisone poor response, PCR-MRD ≥10-3 on day 33 and on day 78 as poor prognostic factors affecting event-free survival (EFS). Detection of >10% blasts on day 15 with MFC (MFC-high-risk group) was not shown to affect EFS and/or overall survival (log-rank P=0.339). Multiple logistic regression analysis revealed PCR-MRD ≥10-3 on day 78 as the only poor prognostic factor affecting EFS (odds ratio 8.03; 95% confidence interval 2.5-25; P=0.000). It is very important to establish the infrastructure and ensure necessary standardization for both MRD methods for optimal management of children with ALL.

Thrombotic events are severe, often under-diagnosed, complications occurring in newborn infants during their hospital stay. Currently, there is no consensus regarding the optimal treatment scheme for thrombolysis in neonates.

We present the case of a newborn suffering from a life-threatening thrombosis. Diagnosis was suggested by a gradual increase of C-reactive protein, with repeatedly normal procalcitonin. Thrombosis was successfully and safely treated with a long scheme of 21 days of urokinase, supported by vascular ultrasound and d-dimer trend.

Laboratory and ultrasound results may help in adjusting the duration of the thrombolytic treatment, allowing for longer therapeutic schemes that could optimize treatment success. In addition, our case may suggest a possible combined role of C-reactive protein and procalcitonin as an early diagnostic aid in neonatal thrombosis.

Laboratory and ultrasound results may help in adjusting the duration of the thrombolytic treatment, allowing for longer therapeutic schemes that could optimize treatment success. In addition, our case may suggest a possible combined role of C-reactive protein and procalcitonin as an early diagnostic aid in neonatal thrombosis.

Pediatric immune thrombocytopenia (ITP) is a potentially life threating autoimmune disorder with different responses to therapy and different bleeding phenotypes in critical organs. The molecular basis for the variable response has not yet been fully elucidated. This study was designed to address the predictive value of regulatory B-cell (B reg ) count and interleukin-10 (IL-10) serum levels for acute ITP patients who progress to chronic phase. The present study included 80 children with acute ITP )38 males and 42 females (with median age of 8 years and 40 matched healthy controls. Assessment of B reg (CD19 + CD24 hi CD38 hi ) was carried out by a multicolor flowcytometry, however, IL-10 serum levels were evaluated by enzyme-linked immunosorbent assay. A significant reduction of B reg percentage and a significant increase in serum IL-10 levels were identified in children with acute ITP as compared with controls ( P <0.001 for both). Fourteen ITP patients passed to chronic phase, while 66 patients achieved remission within 6 months. The absolute B reg was significantly lower, while IL-10 was significantly higher in patients with acute ITP who progressed to chronic phase in comparison with acute ITP patients who achieved complete remission. Cox proportional hazards for ITP chronicity revealed that IL-10 OR was 2.46 (confidence interval 1.42-4.27; P =0.001) and absolute B reg OR was 0.147 (confidence interval 0.128-0.624; P =0.005) in the peripheral blood. Therefore, they could predict chronicity in ITP cases.

Reduced B reg count and elevated IL-10 levels in patients with acute ITP at diagnosis can predict chronicity.

Reduced B reg count and elevated IL-10 levels in patients with acute ITP at diagnosis can predict chronicity.

There is insufficient guidance in using posttransplant cyclophosphamide in patients with organ dysfunctions. Abatacept (Aba), a T cell costimulation blockade, has recently been shown to prevent severe acute graft-versus-host disease (GVHD).

We report adding Aba as GVHD prophylaxis in 4 pediatrics patients who received haplo-hematopoietic cell transplantation. Two patients had grade 2 acute GVHD and 2 had mild chronic GVHD. All 4 patients are alive with full donor chimerism, and 3 are off immunosuppressants.

An Aba-based regimen can result in reliable engraftment and acceptable GVHD when concerns of organ dysfunction prevents the use of posttransplant cyclophosphamide in haplo-hematopoietic cell transplantation.

An Aba-based regimen can result in reliable engraftment and acceptable GVHD when concerns of organ dysfunction prevents the use of posttransplant cyclophosphamide in haplo-hematopoietic cell transplantation.Pediatric benign neutropenia is a self-limited condition with a benign clinical course. An approach to this condition is not well-defined in the literature. Our objective was to use a case-based survey to elucidate trends in the diagnosis and management of benign neutropenia among pediatric hematology/oncology practitioners in Canada. We received 46 completed surveys (response rate 66%). At initial presentation with fever and neutropenia, 67% of respondents recommended partial septic workup but 11% recommended no investigations. Nearly 70% recommended admission for empiric intravenous antibiotics, while 24% would discharge home without antibiotics. In a patient with fever and known neutropenia, respondents were more likely to pursue outpatient antibiotic therapy. For investigation of chronic neutropenia, most respondents (60%) do not use antineutrophil antibody testing. Common indications for bone marrow biopsy were severe infection, prolonged neutropenia, or before initiating granulocyte colony stimulating factor. Indications for granulocyte colony stimulating factor were based on severity and frequency of infection. Most respondents (84%) would not recommend antibiotic prophylaxis. Results demonstrate the considerable variability in management of benign neutropenia among pediatric hematology/oncology practitioners in Canada and highlight the need for prospective studies to establish diagnostic criteria for benign neutropenia and evaluate management of fever in this population.PIK3CA-related disorders include vascular malformations, potential overgrowth of various tissues, limb abnormalities, disordered soft tissue, and/or fatty hyperplasia that often leads to significant morbidity. Alpelisib, a targeted inhibitor of p110α, an enzyme encoded by the PIK3CA gene, has demonstrated success in a cohort of patients with PIK3CA-driven overgrowth syndromes. We describe the clinical course of 2 pediatric patients treated with alpelisib under the Novartis Managed Access Program. Both patients, though clinically distinct, demonstrate improvements in overgrowth volumes/extent, function of their affected limb, and quality of life, without significant adverse effects after prolonged treatment.Primary extrarenal Wilms tumors are rare neoplasms that are presumed to arise from metanephric or mesonephric remnants outside of the kidney. Their pathogenesis is debated but has not been studied, and there are no reports of genomic descriptions of extrarenal Wilms tumors. We describe a diffusely anaplastic extrarenal Wilms tumor that occurred in the lower abdomen and upper pelvis of a 10-year-old boy. In addition to the clinical, histopathologic, and radiologic features, we describe the cytogenetic changes and exomic profile of the tumor. The tumor showed loss of the tumor suppressor AMER1, loss of chromosome regions 1p, 16q, and 22q, gain of chromosome 8, and loss of function TP53 mutation-findings known to occur in renal Wilms tumors. This is the first description of the exomic profile of a primary extrarenal Wilms tumor. Our data indicate that primary extrarenal Wilms tumors may follow the same pathogenetic pathways that are seen in renal Wilms tumors. Finally, we describe the establishment of first ever tumor models (primary cell line and patient-derived xenograft) from an extrarenal Wilms tumor.This brief review outlines a novel case study with targeted literature search. Patient X was a 21-month-old male who was receiving ongoing treatment for stage M MYCN-amplified high-risk neuroblastoma. Patient X's mother was considering refusal of further cancer-directed therapy because of the child's developmental regression noted during his prolonged hospitalization. Given the underlying malleability of the developing brain in early childhood, access to supportive services that facilitate ongoing neurodevelopment in hospitalized young children is of utmost importance; such services further reduce parental stress and likely enhances parental and medical team efficacy of care.

Recovery time after corpus callosotomy (CC) is known to be longer in elderly than in younger patients.

To evaluate the relationship between patient age and recovery time of activities of daily living (ADL) after 1-stage complete CC.

This study included 41 patients (22 women; aged 13 months-34 years, median 7 years) who underwent 1-stage complete CC for medically intractable seizures with drop attacks, infantile spasms, and/or bilaterally synchronized electroencephalographic discharges between August 2009 and April 2019. The timing of restart of competence in 5 ADL categories and surgical outcomes were recorded.

Patients (1) restarted speech at 2.2 ± 1.3 (mean ± 2 standard deviations; range 1-5) days, (2) restarted replying with their own name on request at 5.5 ± 8.6 (2-33) days, (3) restarted oral intake at 1.6 ± 1.7 (1-11) days, (5) discontinued intravenous feeding at 6.0 ± 3.0 (2-16) days, and (5) restarted ambulation or wheelchair movement at 5.8 ± 3.4 (2-10) days. Younger patients showed significantly (P < .0223) earlier recovery of ambulation or wheelchair movement, but no age difference was found in the other 4 ADL categories. Overall seizure freedom was achieved in 5 patients, excellent (>80%) seizure reduction in 11, good (50%-80%) seizure reduction in 5, and poor (<50%) seizure reduction in 20.

Early ADL recovery after 1-stage complete CC is favorable in both young and adult patients. These findings, with good surgical outcomes, will encourage more positive consideration of 1-stage complete CC in both pediatric and adult patients.

Early ADL recovery after 1-stage complete CC is favorable in both young and adult patients. These findings, with good surgical outcomes, will encourage more positive consideration of 1-stage complete CC in both pediatric and adult patients.Fibre quality improvement in Gossypium hirsutum is one of the long thought objectives for sustainability of cotton improvement. The efforts to transfer G. barbadense alleles in to G. hirsutum for enhanced fibre quality is still under process across the world. To meet the future fibre quality demand in India, here we report development of G. barbadense X G. barbadense recombinant inbred mapping population that has huge potential for precise mapping of extra-long staple traits. The two-location evaluation and variability analysis for extra-long staple traits such as fibre length (24.91 to 34.06 mm), fibre strength (25.02 to 35.86 g/tex), micronaire (2.89-4.57), uniformity index (64.08-98.83), fibre elongation (5.37-6.60) and maturity ratio (0.48-0.76) were highly satisfactory. The principal component analysis indicates that the principal component-1 explaining 23.12% variance had maximum values of Eigen vectors explained by fibre strength (-0.464), length (-0.469), elongation (-0.448), maturity ratio (0.312) and micronaire value (0.306) indicating the worth of the population for which it was developed. The correlation analysis indicated that the fibre length and strength could be simultaneously improved without any impact on seed cotton yield since both traits were positively associated with each other and also showed nonsignificant association with seed cotton yield. A total of 255 recombinant inbred lines (RILs) showed normal distribution from both Z-score of skewness/kurtosis analysis and quartile-quartile plots indicating that they can be readily utilized for genotyping with latest available technologies such as genotype-by-sequencing for effective mapping of extra-long staple traits in cotton.Pearlspot (Etroplus suratensis) is one of the most commercially important brackish water fish species widely found along the coastal regions of peninsular India and Sri Lanka. Pearlspot is known for its tender flesh, delectable taste, culinary tourism and highyielding market value. Information on the genetic makeup of stocks/populations is extremely vital as it forms the basis for future genetic studies. For this, we utilized ATPase6/8 genes of mtDNA of pearlspot populations collected from nine different locations ranging from Ratnagiri in Maharashtra state on the west coast to Chilika in Odisha on the east coast. Sequence analyses of these genes revealed 33 polymorphic sites, which include 17 singleton and 16 parsimony informative sites. Pair-wise genetic differentiation study (FST = 0.75) indicated significant (P less then 0.001) differences among all the pairs of stocks except those from Chilika and Nagayalanka. The spatial analysis of molecular variance (SAMOVA) significantly delineated the population intt we get a wide gene pool to select from.The apocarotenoids play a vital role in plant growth and development process, especially strigolactones, which can induce rooting and help in the interaction with symbiotic microbes in plants. They also act as colorants, antioxidants, hormones, signalling components, scent/aroma constituents and chromophores. In silico approaches are valuable in reducing the complexity regarding gene networks in plants that help to develop new biotechnological and bioinformatics tactics in crop improvement programmes. An in silico comparative genomic analysis of the key enzymes encoding genes involved in apocarotenoid biosynthesis in cassava was carried out using template plants such as arabidopsis, tomato, potato and sweet potato. Forty carotenoid genes were identified, and the nucleotide sequences were subjected to various regulatory sequence analyses such as transcription factor prediction, CpG island analysis, microRNA regulatory analysis and promotor sequence analysis. The corresponding protein sequences were subjected tding programme to develop improved carotenoid rich varieties.Type 2 diabetes mellitus (T2D) is a metabolic disorder caused by a complex interplay between genetic and environmental factors. While remarkable progress have been made in our understanding of the genetic components that lead to disease expression, the 'diabetes genes' identified to date are inadequate for assessing disease risk, which suggests that many other genes remain to be discovered. Here, we used Drosophila to examine the protein-coding genes annotated in the hyperglycaemic locus of Otsuka Long-Evans Tokushima Fatty (OLETF) rats, a well-characterized model of T2D. We identified lilliputian (lilli), a fly homolog of AF4/FMR2 family member 2, as a novel candidate gene for T2D. Lilli knockdown adult females had significantly higher haemolymph trehalose and glucose levels, while dilp2, which plays a major role in sugar metabolism, was downregulated. Tissue-specific knockdown strain revealed that lilli plays a crucial function in oenocytes and the fat body, which together are homologous organs to the liver. Together, these findings demonstrate the importance of using fly models for investigating polygenic diseases such as T2D.In genomewide association study (GWAS) of a complex phenotype, a large number of variants, many with small effect sizes, are found to contribute to the variability of the phenotype. Subsequent to the identification of such variants in a GWAS, it is of interest to estimate the risk jointly conferred by the variants. We propose three different strategies of combining the risk SNPs to calculate an allele dosage score. Using simulations, we evaluate the different measures of allele dosage score with respect to the risk prediction accuracy of a binary trait and the proportion of variance explained for a quantitative trait. For a binary trait, an allele dosage score defined based on log odds ratio performs marginally better than the other two measures. For a quantitative trait, the measure based on the standardized slope coefficient in linear regression of the trait on single-nucleotide polymorphism (SNP) genotypes performs better than the measures using the weights proportional to log P-value and the proportion of variance explained. We demonstrate the utility of these measures using a real data on type 2 diabetes and fasting blood sugar level in a south Indian population.Many different laboratory studies of adaptation to larval crowding in Drosophila spp. have all yielded the evolution of preadult competitive ability, even though the ecological context in which crowding was experienced varied across studies. However, the evolution of competitive ability was achieved through different suites of traits in studies wherein crowding was imposed in slightly different ways. Earlier studies showed the evolution of increased competitive ability via increased larval feeding rate and tolerance to nitrogenous waste, at the cost of food to biomass conversion efficiency. However, more recent studies, with crowding imposed at relatively low food levels, showed the evolution of competitive ability via decreased larval development time and body size, and an increase in the time efficiency of conversion of food to biomass, with no change in larval feeding rate or waste tolerance. Taken together, these studies have led to a more nuanced understanding of how the specific details of larval number average. All three sets of crowding-adapted populations showed shorter average egg hatching time than controls, but the difference was significant only in the case of populations experiencing the highest feeding band density. Our results underscore the importance of considering factors other than just eggs/food density when studying the evolution of competitive ability, as also the advantages of having multiple selection regimes within one experimental set up, allowing for a more nuanced understanding of the subtlety with which adaptive evolutionary trajectories can vary across even fairly similar selection regimes.In sequence study, set-based analysis has been developed as a popular tool for analysing the association of a group rare variant with disease. However, most of the methods are sensitive to the genetic architecture. Besides, by directly combining the association signals of multiple markers within a genomic region can inevitably include a large proportion of noises. To address this issue, we extend the aggregated Cauchy association test (ACAT; Liu et al. 2019) and propose an adaptive Cauchy-variable combination method (ACC). Our proposed method combines Cauchy-variables, which are transformed from variant-level P-values in a given genomic region and adaptively truncate noises by choosing an optimal truncation threshold of the variant-level P-value that is determined by the data. Besides, the ACC method can use summary statistics obtained from open access database when the original genotype and phenotype data are unavailable. Extensive simulation studies and Genetic Analysis Workshop 19 real data analysis show that ACC is more powerful than the other comparative methods when only a small proportion of variants are causal, and ACC is robust to the varied genetic architecture.To elucidate the relevance of genetic alterations, we analysed 17 genes known to be involved in haematological neoplasms in patients with chronic leucocytosis and patients with persistent thrombocytosis. Mutations of the JAK2, SETBP1 and ASXL1 genes were found in 1/13, 1/13, and 2/13 patients with leucocytosis, respectively. Mutations of the JAK2, CALR, SETBP1 and ASXL1 genes were found in 1/5, 1/5, 1/5 and 2/5 patients with thrombocytosis, respectively. One leucocytosis patient with a JAK2 V617F mutation developed polycythaemia vera. Another leucocytosis patient developed Philadelphia chromosome-negative chronic myeloid leukaemia (Ph(-) CML) accompanied by t(9;12)(q34.1;p13.?3) (Mori et al. 2016). Another leucocytosis patient with mutations of the SETBP1 and ASXL1 genes progressed to blast crisis of Ph(-) CML accompanied by i(17)(q10). Chronic leucocytosis patients who had genetic alterations tended to develop haematological neoplasms, while thrombocytosis unexpectedly resolved in two persistent thrombocytosis patients with genetic alterations.Chromosome abnormality is one of the important causes of spontaneous abortion. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with spontaneous abortion vary greatly. At present, there is no large sample statistics of chromosome abnormality in patients with spontaneous abortion in Yantai, Shandong province, China and hence 2959 couples (5918 individuals) with spontaneous abortion were recruited for this study. G banding was used to examine the karyotype of patients. The results showed that chromosomal abnormalities were present in 173 of 2959 couples with the rate of 5.85%. Female carriers were significantly higher than male. Chromosomal abnormality rate was positively correlated with the number of spontaneous abortions. Structural aberrations were significantly greater than numerical aberrations, with a prevalence of 92.49% and 7.51%, respectively. Balanced translocation, Robertson translocation and inversion were the most common types of chromosomal structural abnormalities. Among them, the proportion of balanced translocation was the highest (63.13%, 101/160). In addition, three cases of rare complex abnormal karyotype were detected. In summary, chromosome abnormality could be one of the important causes of spontaneous abortion in Yantai, Shandong province, China. The sex of patients with chromosomal abnormalities and the number of spontaneous abortions should be considered in genetic counselling. When one of the partners have chromosome abnormality, preimplantation genetic diagnosis and prenatal diagnosis could play a great significance for preventing the birth of children with chromosomal diseases and reducing birth defects.Evaluation and characterization of genetic resources maintained at both in situ and ex situ GenBanks have important implications for future utilization in association mapping studies, genetic selection, breeding and conservation activities. The main objective of this study was to evaluate the genetic diversity, population structure and relationship of 384 Ethiopian barley genotypes collected from different barley growing regions of Ethiopia using 49 simple sequence repeat (SSR) markers. Analysis of these 49 SSR markers amplified a total of 478 alleles with an average of 9.755 alleles per locus were obtained of which 97.07% of the loci were observed to be polymorphic. Nei's genetic diversity index (h) was 0.654 and the Shannon diversity index (I) was 0.647, indicating that the genetic diversity in barley genotypes studied was moderately high. At the population level, mean per cent of polymorphic loci (PPL) showed 98.37%, h = 0.388 and I = 0.568. Highest level of genetic diversity was observed in the Arsi populu conservation.Memecylon (Melastomaceae) is a large genus of the Old-World predominantly woody species. Many species of Memecylon are used for timber, ornamental and medicinal purposes. The objective of the present study was to undertake a phylogenetic analysis of Indian Memecylon based on nuclear ribosomal DNA internal transcribed spacer (nrDNA-ITS) and rbcL sequence data. Sampling included 26 species and one variety (20 endemics) representing 67% of the total Indian species. Molecular phylogeny data for analysed species revealed that the Indian Memecylon is monophyletic. Monophyly is strongly supported in the ITS, rbcL and ITS + rbcL combined analyses. Memecylon species are grouped in a major clade with strong support in ITS sequence data and moderate support in combined ITS + rbcL analyses.To combat the dreaded diseases in rice like bacterial blight (BB) and blast, host plant resistance has been advocated as the most suitable and sustainable method. Through the present study, we have successfully incorporated three major BB resistance genes, namely Xa21, xa13 and xa5 into NLR3449, a high yielding, blast resistant, fine-grain type, popular rice variety through marker-assisted backcross breeding. Foreground selection was carried out using polymerase chain reaction based, gene-specific markers, namely pTA248 (Xa21), xa13prom (xa13) and xa5FM (xa5) at each generation of backcrossing, while 127 polymorphic SSR markers spanning on 12 chromosomes were used for background selection and backcrossing was limited to two rounds. At BC2F1 generation, a single plant (NLR-87-10) with 89.9% recovery, possessing all the three BB resistance genes was forwarded to BC2F2 generation. A solitary BC2F2 plant, namely NLR-87- 10-106 possessing all the three resistance genes and 96% genome recovery was identified and advanced through selfing until BC2F4 generation by adopting pedigree-method of selection. Three best BC2F4 lines, possessing high level of resistance against BB and blast, and equivalent or superior to NLR 34449 in terms of yield, grain quality and agro-morphological traits were identified and advanced for multilocation trials.CRISPR/Cas9 technology is one of the common methods of genome editing and targeted gene mutation, which has recently been used for manipulating microalgae such as Chlamydomonas reinhardtii. Besides, this technology can play a role in the fight against greenhouse gases (e.g., carbon dioxide) production by studying genetic pathways to improve algal strains. Among several genes in algae that respond to CO2 and regulators control the expression of each; Cia5 is one of the most critical transcriptional regulators. In this research, we knocked out the Cia5 gene using the CRISPR/Cas9 technique and analysed the ability of C. reinhardtii to perform CO2 sequestration. Our results showed that C. reinhardtii has better performance (i.e., response to CO2 treatment) in both control and mutant species at 0.5% CO2 concentration than other concentrations. However, the difference between the control microalgae species and the mutant species was in the CO2 removal efficiency. Additionally, our findings revealed that the control type isolate in CO2 concentrations of 0.04%, 0.5% and 1% had removal efficiencies of 27%, 37% and 21%, respectively. Nevertheless, for mutant species in the same concentrations, the observed removal efficiencies were 16%, 23% and 9%.India is home for at least 18 indigenous pig breeds; however, the genetic diversity of Indian pig, Sus scrofa domesticus, population is poorly known. Here, the hypervariable region (HVR) of mitochondrial DNA D-loop (~487 bp) of 214 pigs representing five indigenous and three exotic breeds was sequenced and analysed with reference sequences from other countries. A total of 54 segregating sites among the sequences revealed 56 different haplotypes. Two, 11, eight, seven and six haplotypes were identified with some haplotype sharing in indigenous breeds Doom, Ghungroo, Mali, Niang-Megha and Tenyi-Vo, respectively. Population pairwise differences (PhiST) (0.409) were found significant (P less then 0.001), and variance within breeds (59.1%) was more than that of among breeds (40.9%). Similar topology was noted in phylogeny and median-joining network. Indian domestic pigs from this study were found to possess unique and highly differentiated haplotypes on network analysis. The diverse haplotypes and phylogenetic lineages identified here is the first report on Indian pig breeds that need to be further explored by complete mitochondrial DNA sequencing and analysis. These findings provide indicative insights for conservation and optimum utilization of the porcine genetic resources.Variable-temperature single-crystal diffraction experiments treated with the Gandolfi method reveal the detailed temperature evolution of the unit-cell dimensions, structural transformations and the phase co-existence of the energetic material FOX-7. Two first-order phase transitions are observed accompanied by abrupt changes in volume and unit-cell dimensions. The thermal expansion is found to be linear for all three phases, albeit highly anisotropic. Moreover, the experimental thermal expansion coefficients differ from those predicted from literature atomistic simulations.Topological analysis of the heteropolyhedral MT framework (where M and T are octahedral and tetrahedral cations, respectively) in the eudialyte-type structure and its derivatives was performed based on a natural tiling analysis of the 3D cation. To analyze the migration paths of sodium cations in these structures, the Voronoi method was used. The parental eudialyte-type MT framework is formed by isolated ZO6 octahedra, six-membered [M(1)6O24] rings of edge-sharing M(1)O6 octahedra, and two kinds of rings of tetrahedra, [Si3O9] and [Si9O27]. Different occupancies of M(2), M(3) and M(4) sites with variable coordination numbers by the additional Q, T* and M* cations, respectively, result in 12 different types of the MT framework. Based on the results of natural tilings calculations as well as theoretical analysis of migration paths, it is found that Na+ ions can migrate through six- and seven-membered rings, while all other rings are too small for the migration. In eight types of MT frameworks, Na+-ion migration and diffusion is possible at ambient temperature and pressure, while in four other types cages are connected by narrow windows and, as a result, the Na+ diffusion in them is complicated at ambient conditions because of the window diameter, but may be possible either at higher temperatures or under mild geological conditions for long periods of time.A study of two polymorphic forms of 1-allyl-4-hydroxy-2,2-dioxo-N-(4-methoxyphenyl)-1-2λ6,1-benzothiazine-3-carboxamide (a structural analogue of piroxicam) has revealed some regularities in the crystal structure formation due to different evaporation rates from the tested solvents. The monoclinic polymorph crystallized from ethyl acetate is formed due to a large number of very weak C-H...O and C-H...π interactions as well as one strong stacking interaction. The triclinic polymorph crystallized from N,N-dimethylformamide is formed due to a small number of weak specific interactions and a maximal number of strong stacking interactions. The stacked dimer is a complex building unit in both polymorphic structures. Further analysis showed that the monoclinic structure is layered while the triclinic one is columnar. The two polymorphic structures also differ in their biological activity (antidiuretic and analgesic). The monoclinic polymorph possesses very high biological activity while the triclinic polymorph is almost inactive. The polymorphic transition of the biologically active metastable monoclinic structure into the inactive stable triclinic one within four weeks of grinding is caused by orientational factors rather than conformational ones and is accompanied by a change in the redistribution of interaction energies in the crystal from anisotropic to more isotropic. Thus, a slow polymorphic transition after grinding results in a loss of the biological activity.The crystal structure of Na2Mn3(SO4)4 [unit-cell parameters a = 14.8307 (18), b = 9.9107 (18), c = 8.6845 (12) Å, space group Cmc21] displays order-disorder (OD) character and can be described using the OD groupoid family, more precisely a family of OD structures built up by two types of non-polar layers, with layer symmetry P(m)c21 (L2n+1 type) and P(b)cm (L2n type) (category IV). A new hypothetical MDO2 polytype has been proposed and the geometry optimization demonstrates its reasonability as another possible stable polytype. Compounds Na2Mn3-xMgx(SO4)4 with the unit-cell parameters a ∼ 29.2-29.7 Å, b ∼ 9.5-9.9 Å, c ∼ 8.7 Å and space group Pbca can be described in terms of modularity as a sequence of A, S1 and S2 modules…|AS1AS2AS1AS2|… or (AS1AS2), together with MDO1 (AS1AS1) and MDO2 (AS2AS2). The crystal structures of itelmenite, NaCaFe3+3(PO4)4, and Ca2MgFe3+2(PO4)4 are crystal-chemical isotypic to Na2Mn3-xMgx(SO4)4 and should be considered as (A*S1A*S2) derivatives of the (AS1AS2)-type structure.A reversible transformation of the unit-cell parameters and atomic coordinates of centrosymmetric perovskites ABX3 into a Cartesian space is defined. Analytical expressions for the three vectors for the pseudocubic cell and three vectors for a BX6 octahedron are derived for space groups Pbmn, Cmcm, Ibmm, P4/mbm, P4/nmc, I4/mcm and R3c. The following structural parameters may be derived from these vectors up to six pseudocubic parameters defining octahedral geometry; length- and angle-based octahedral distortion parameters λ and σ; inclination angles of tilted octahedra, θ1, θ2 and θ3; angles of tilt of octahedra; AX12BX6 polyhedral volume ratio, VA/VB; parameters ηA and ηB defining the relative contraction of inner AX8 polyhedra and expansion of BX6 octahedra due to octahedral tilting. The application of these parameters is demonstrated by reference to published crystal structures. The variation of ηA and ηB with temperature in the compositional series SrxBa1-xSnO3 and SrxBa1-xHfO3, as well as the temperature series of BaPbO3 and CaTiO3, is related to the sequence of phases Pbmn → Ibmm→ Pm3m. Stabilization of the Cmcm phase is likewise interpreted in terms of these two parameters for NaTaO3 and NaNbO3. The pressure evolution of the structures of MgSiO3, YAlO3, (La1-xNdx)GaO3 (0 ≤ x ≤ 1) and YAl0.25Cr0.75O3 is modelled with the appropriate structural parameters, thereby also addressing the characteristics of the Pbmn → R3c transition. Simulation of MgSiO3 up to 125 GPa and of YAlO3 up to 52 GPa in space group Pbnm is carried out by using the Birch-Murnaghan equation of state. In both cases, full sets of oxygen coordinates assuming regular octahedra are generated. Octahedral distortion is also modelled in the latter system and predicted to have a key influence on structural evolution and the sequence of phase transitions. The core modelling procedures are made available as a Microsoft Excel file.Understanding crystallization behaviors is of utmost importance for developing robust amorphous pharmaceutical solids. Herein, the crystal growth behaviors of amorphous anti-inflammatory drug nimesulide (NIME) are systemically investigated in the glassy and supercooled liquid state as a function of temperature. A sudden over-tenfold increase is observed in the bulk crystal growth of NIME on cooling below its glass transition temperature (Tg). This fast growth behavior is known as a glass-to-crystal (GC) mode and has been reported in some molecular glasses. Fast surface crystal growth of NIME can persist up to Tg + 57°C with a weak jump in its growth rates at 30-40°C. In addition, surface crystal growth and GC growth of NIME exhibit an almost identical temperature dependence, supporting the view that GC growth is indeed a surface-facilitated process. Moreover, the bubble-induced fast crystal growth of NIME is observed in the interior of its supercooled liquid with approximately the same growth kinetics as surface crystal growth. These findings are relevant for a full understanding of the surface-related crystallization behaviors and physical stability of amorphous pharmaceutical formulations.Synthetic and naturally occurring forms of tricopper orthotellurate, CuII3TeVIO6 (the mineral mcalpineite) have been investigated by 3D electron diffraction (3D ED), X-ray powder diffraction (XRPD), Raman and infrared (IR) spectroscopic measurements. As a result of the diffraction analyses, CuII3TeVIO6 is shown to occur in two polytypes. The higher-symmetric CuII3TeVIO6-1C polytype is cubic, space group Ia3, with a = 9.537 (1) Å and V = 867.4 (3) Å3 as reported in previous studies. The 1C polytype is a well characterized structure consisting of alternating layers of CuIIO6 octahedra and both CuIIO6 and TeVIO6 octahedra in a patchwork arrangement. The structure of the lower-symmetric orthorhombic CuII3TeVIO6-2O polytype was determined for the first time in this study by 3D ED and verified by Rietveld refinement. The 2O polytype crystallizes in space group Pcca, with a = 9.745 (3) Å, b = 9.749 (2) Å, c = 9.771 (2) Å and V = 928.3 (4) Å3. High-precision XRPD data were also collected on CuII3TeVIO6-2O to verify t shows a broad double maximum with bands centred around 692 and 742 cm-1.The discovery of the homometry of X-ray diffraction dates back to the 1930s and shows the ambiguity in structure characterization purely from diffraction technologies. Since then, there has only been limited discussion on this topic with reference to several real structures and an efficient method for finding homometric structures for a known three-dimensional structure is still lacking today. In this work, a method was developed to create a set of structures with the same interatomic distances as an original structure, which can then be identified as powder X-ray diffraction or single-crystal X-ray diffraction homometric structures. This method was applied to the Inorganic Crystal Structure Database (ICSD) and homometric structures for 37 reported structures were found. Also it was found that homometric structures are encountered frequently in solving crystal structures when building initial models with only heavy atoms, which indicates that special caution is needed in interpreting XRD data with heavy-atom methods.Neodymium iron borate NdFe3(BO3)4 is an intensively studied multiferroic with high electric polarization values controlled by a magnetic field. It is characterized by a large quadratic magnetoelectric effect, rigidity in the base plane and a rather strong piezoelectric effect. In this work, the atomic structure of (Nd0.91Bi0.09)Fe3(BO3)4 was studied by single-crystal X-ray diffraction in the temperature range 20-500 K (space group R32, Z = 3). The Bi atoms found in the composition partially substitute the Nd atoms in the 3a position; they entered the structure due to the growth conditions in the presence of Bi2Mo3O12. It was shown that in the temperature range 20-500 K there is no structural phase transition R32→P3121, which occurs in rare-earth iron borates (RE = Eu-Er, Y) with an effective rare-earth cation radius smaller than that of Nd. The temperature dependence of the unit-cell c parameter reveals a slight increase on cooling below 90 K, which is similar to the results obtained previously for iron borates of Gd, Y and Ho. The atomic distances (Nd,Bi)-O, (Nd,Bi)-B, (Nd,Bi)-Fe, Fe-O, Fe-B and Fe-Fe in the iron chains and between chains decrease steadily with decreasing temperature from 500 to 90 K, whereas the B1(3b)-O distance does not change and the average B2(9e)-O distance increases slightly. There is a uniform decrease in the atomic displacement parameters with decreasing temperature, with a more pronounced decrease for the Nd(3a) and O2(9e) atoms. The O2(9e) atoms are characterized by the maximum atomic displacement parameters and the most elongated atomic displacement ellipsoids. The characteristic Debye and Einstein temperatures, and the static component in the atomic displacements were determined for cations using multi-temperature diffraction data. It was shown that the Nd cations have the weakest bonds with the surrounding atoms and the B cations have the strongest.Rif1 is a large multifaceted protein involved in various processes of DNA metabolism - from telomere length regulation and replication to double-strand break repair. The mechanistic details of its action, however, are often poorly understood. Here, we report functional characterization of the Rif1 homologue from methylotrophic thermotolerant budding yeast Hansenula polymorpha DL-1. We show that, similar to other yeast species, H. polymorpha Rif1 suppresses telomerase-dependent telomere elongation. We uncover two novel modes of Rif1 recruitment at H. polymorpha telomeres via direct DNA binding and through the association with the Ku heterodimer. Both of these modes (at least partially) require the intrinsically disordered N-terminal extension - a region of the protein present exclusively in yeast species. We also demonstrate that Rif1 binds Stn1 and promotes its accumulation at telomeres in H. polymorpha.

In vitro fertilisation is a widely used reproductive technique that can be undertaken with or without intracytoplasmic sperm injection. The endometrial scratch procedure is an in vitro fertilisation 'add-on' that is sometimes provided prior to the first in vitro fertilisation cycle, but there is a lack of evidence to support its use.

(1) To assess the clinical effectiveness, safety and cost-effectiveness of endometrial scratch compared with treatment as usual in women undergoing their first in vitro fertilisation cycle (the 'Endometrial Scratch Trial') and (2) to undertake a systematic review to combine the results of the Endometrial Scratch Trial with those of previous trials in which endometrial scratch was provided prior to the first in vitro fertilisation cycle.

A pragmatic, multicentre, superiority, open-label, parallel-group, individually randomised controlled trial. Participants were randomised (1  1) via a web-based system to receive endometrial scratch or treatment as usual using stratified blome and will be published in full in

 ; Vol. 26, No. 10. See the NIHR Journals Library website for further project information.

This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 26, No. 10. See the NIHR Journals Library website for further project information.