Possible evolution of dim radio quiet neutron star 1E 1207.4-5209 based on a B-decay model

Dim radio-quiet neutron star (DRQNS) 1E 1207.4-5209 is one of the most heavily examined isolated neutron stars. Wide absorption lines were observed in its spectrum obtained by both XMM-Newton and Chandra X-ray satellites. These absorption lines can be interpreted as a principal frequency centered at 0.7 keV and its harmonics at 1.4, 2.1 and possibly 2.8 keV. The principal line can be formed by resonant proton cyclotron scattering leading to a magnetic field which is two orders of magnitude larger than the perpendicular component of the surface dipole magnetic field (B) found from the rotation period (P) and the time rate of change in the rotation period (\.{P}) of 1E 1207.4-5209. Besides, age of the supernova remnant (SNR) G296.5+10.0 which is physically connected to 1E 1207.4-5209 is two orders of magnitude smaller than the characteristic age ($\tau$=P/2\.{P}) of the neutron star. These huge differences between the magnetic field values and the ages can be explained based on a B-decay model. If the decay is assumed to be exponential, the characteristic decay time turns out to be several thousand years which is three orders of magnitude smaller than the characteristic decay time of radio pulsars represented in an earlier work. The lack of detection of radio emission from DRQNSs and the lack of point sources and pulsar wind nebulae in most of the observed SNRs can also be partly explained by such a very rapid exponential decay. The large difference between the characteristic decay times of DRQNSs and radio pulsars must be related to the differences in the magnetic fields, equation of states and masses of these isolated neutron stars.Comment: 13 pages, 1 figur

Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Mechanism of selective benzene hydroxylation catalyzed by iron-containing zeolites

A direct, catalytic conversion of benzene to phenol would have wide-reaching economic impacts. Fe zeolites exhibit a remarkable combination of high activity and selectivity in this conversion, leading to their past implementation at the pilot plant level. There were, however, issues related to catalyst deactivation for this process. Mechanistic insight could resolve these issues, and also provide a blueprint for achieving high performance in selective oxidation catalysis. Recently, we demonstrated that the active site of selective hydrocarbon oxidation in Fe zeolites, named α-O, is an unusually reactive Fe(IV)=O species. Here, we apply advanced spectroscopic techniques to determine that the reaction of this Fe(IV)=O intermediate with benzene in fact regenerates the reduced Fe(II) active site, enabling catalytic turnover. At the same time, a small fraction of Fe(III)-phenolate poisoned active sites form, defining a mechanism for catalyst deactivation. Density-functional theory calculations provide further insight into the experimentally defined mechanism. The extreme reactivity of α-O significantly tunes down (eliminates) the rate-limiting barrier for aromatic hydroxylation, leading to a diffusion-limited reaction coordinate. This favors hydroxylation of the rapidly diffusing benzene substrate over the slowly diffusing (but more reactive) oxygenated product, thereby enhancing selectivity. This defines a mechanism to simultaneously attain high activity (conversion) and selectivity, enabling the efficient oxidative upgrading of inert hydrocarbon substrates

HER-2 positivity rate in dogs with mammary carcinoma: a systematic review and meta-analysis

ΔΕΝ ΔΙΑΤΙΘΕΤΑΙ ΠΕΡΙΛΗΨΗHuman epidermal growth factor receptor 2 (HER-2) plays an essential role in cell growth and survival. HER-2 overexpression occurs in 20-30% of human breast tumors and has prognostic value as it is associated with disease progression. HER-2 overexpression is also associated with tumor progression and metastasis in malignant mammary tumors of the canine. However, in the literature, different positivity classifications/scoring were used in the evaluation of HER-2 status, and there is no consensus in terms of scoring of HER-2 expressionin canine mammary tumors. In this study, it was aimed to estimate the HER-2 positivity rate by evaluating the results of the study using different positivity classifications by meta-analysis. In this context, by using ”HER-2 canine mammary tumor” keywords, Pubmed and Web of Science electronic databases were scanned until February 2019, and a total of 97 related studies were found. However, 20 of these studies were used for the analysis. Two different meta-analyses were performed to evaluate the HER-2 positivity status with “2+ and 3+” and “3+” scores. As a result, HER-2 positivity rates were determined at 25.87% and 25.99% for the studies using “2+ / 3+” scores and “3+” respectively for HER-2 positivity. Therefore, this result suggests that the rate of HER-2 positivity is similar between humans and dogs

HER-2 positivity rate in dogs with mammary carcinoma: a systematic review and meta-analysis

ΔΕΝ ΔΙΑΤΙΘΕΤΑΙ ΠΕΡΙΛΗΨΗHuman epidermal growth factor receptor 2 (HER-2) plays an essential role in cell growth and survival. HER-2 overexpression occurs in 20-30% of human breast tumors and has prognostic value as it is associated with disease progression. HER-2 overexpression is also associated with tumor progression and metastasis in malignant mammary tumors of the canine. However, in the literature, different positivity classifications/scoring were used in the evaluation of HER-2 status, and there is no consensus in terms of scoring of HER-2 expressionin canine mammary tumors. In this study, it was aimed to estimate the HER-2 positivity rate by evaluating the results of the study using different positivity classifications by meta-analysis. In this context, by using ”HER-2 canine mammary tumor” keywords, Pubmed and Web of Science electronic databases were scanned until February 2019, and a total of 97 related studies were found. However, 20 of these studies were used for the analysis. Two different meta-analyses were performed to evaluate the HER-2 positivity status with “2+ and 3+” and “3+” scores. As a result, HER-2 positivity rates were determined at 25.87% and 25.99% for the studies using “2+ / 3+” scores and “3+” respectively for HER-2 positivity. Therefore, this result suggests that the rate of HER-2 positivity is similar between humans and dogs

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells, a process that is fundamental to life. Genomic mutations altering this enzyme have not previously been linked to any pathology in humans, which is a testament to its indispensable role in cell biology. On the basis of a combination of next-generation genomic analyses of 775 meningiomas, we report that recurrent somatic p.Gln403Lys or p.Leu438_His439del mutations in POLR2A, which encodes the catalytic subunit of RNA polymerase II (ref. 1), hijack this essential enzyme and drive neoplasia. POLR2A mutant tumors show dysregulation of key meningeal identity genes including WNT6 and ZIC1/ZIC4. In addition to mutations in POLR2A, NF2, SMARCB1, TRAF7, KLF4, AKT1, PIK3CA, and SMO4 we also report somatic mutations in AKT3, PIK3R1, PRKAR1A, and SUFU in meningiomas. Our results identify a role for essential transcriptional machinery in driving tumorigenesis and define mutually exclusive meningioma subgroups with distinct clinical and pathological features

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesOver the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of this approach is governed by the underlying effect sizes carried by the true risk variants and the corresponding statistical power to observe such effects given the study design and sample size under investigation. Previous ASD GWAS have identified genome-wide significant (GWS) risk loci; however, these studies were of only of low statistical power to identify GWS loci at the lower effect sizes (odds ratio (OR) <1.15).We conducted a large-scale coordinated international collaboration to combine independent genotyping data to improve the statistical power and aid in robust discovery of GWS loci. This study uses genome-wide genotyping data from a discovery sample (7387 ASD cases and 8567 controls) followed by meta-analysis of summary statistics from two replication sets (7783 ASD cases and 11359 controls; and 1369 ASD cases and 137308 controls).We observe a GWS locus at 10q24.32 that overlaps several genes including PITX3, which encodes a transcription factor identified as playing a role in neuronal differentiation and CUEDC2 previously reported to be associated with social skills in an independent population cohort. We also observe overlap with regions previously implicated in schizophrenia which was further supported by a strong genetic correlation between these disorders (Rg = 0.23; P = 9 × 10(-6)). We further combined these Psychiatric Genomics Consortium (PGC) ASD GWAS data with the recent PGC schizophrenia GWAS to identify additional regions which may be important in a common neurodevelopmental phenotype and identified 12 novel GWS loci. These include loci previously implicated in ASD such as FOXP1 at 3p13, ATP2B2 at 3p25.3, and a 'neurodevelopmental hub' on chromosome 8p11.23.This study is an important step in the ongoing endeavour to identify the loci which underpin the common variant signal in ASD. In addition to novel GWS loci, we have identified a significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4.National Institutes of Mental Health (NIMH, USA) ACE Network Autism Genetic Resource Exchange (AGRE) is a program of Autism Speaks (USA) The Autism Genome Project (AGP) from Autism Speaks (USA) Canadian Institutes of Health Research (CIHR), Genome Canada Health Research Board (Ireland) Hilibrand Foundation (USA) Medical Research Council (UK) National Institutes of Health (USA) Ontario Genomics Institute University of Toronto McLaughlin Centre Simons Foundation Johns Hopkins Autism Consortium of Boston NLM Family foundation National Institute of Health grants National Health Medical Research Council Scottish Rite Spunk Fund, Inc. Rebecca and Solomon Baker Fund APEX Foundation National Alliance for Research in Schizophrenia and Affective Disorders (NARSAD) endowment fund of the Nancy Pritzker Laboratory (Stanford) Autism Society of America Janet M. Grace Pervasive Developmental Disorders Fund The Lundbeck Foundation universities and university hospitals of Aarhus and Copenhagen Stanley Foundation Centers for Disease Control and Prevention (CDC) Netherlands Scientific Organization Dutch Brain Foundation VU University Amsterdam Trinity Centre for High Performance Computing through Science Foundation Ireland Autism Genome Project (AGP) from Autism Speak

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways