Planetary period magnetic field oscillations in Saturn's magnetosphere: Postequinox abrupt nonmonotonic transitions to northern system dominance

[1] We examine the “planetary period” magnetic field oscillations observed in the “core” region of Saturn's magnetosphere (dipole L ≤ 12), on 56 near‐equatorial Cassini periapsis passes that took place between vernal equinox in August 2009 and November 2012. Previous studies have shown that these consist of the sum of two oscillations related to the northern and southern polar regions having differing amplitudes and periods that had reached near‐equal amplitudes and near‐converged periods ~10.68 h in the interval to ~1 year after equinox. The present analysis shows that an interval of strongly differing behavior then began ~1.5 years after equinox, in which abrupt changes in properties took place at ~6‐ to 8‐month intervals, with three clear transitions occurring in February 2011, August 2011, and April 2012, respectively. These are characterized by large simultaneous changes in the amplitudes of the two systems, together with small changes in period about otherwise near‐constant values of ~10.63 h for the northern system and ~10.69 h for the southern (thus, not reversed postequinox) and on occasion jumps in phase. The first transition produced a resumption of strong southern system dominance unexpected under northern spring conditions, while the second introduced comparably strong northern system dominance for the first time in these data. The third resulted in suppression of all core oscillations followed by re‐emergence of both systems on a time scale of ~85 days, with the northern system remaining dominant but not as strongly as before. This behavior poses interesting questions for presently proposed theoretical scenarios

Additional file 5: Table S1. of Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

Six probes with high Δβ values only in brain tissue. (XLSX 45.1 kb

Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader–Willi Syndrome: A Case Report

<p>Article full text</p> <p>The full text of this article can be found <a href="https://link.springer.com/article/10.1007/s13300-018-0369-5"><b>here</b>.</a></p> <p>Provide enhanced content for this article</p> <p>If you are an author of this publication and would like to provide additional enhanced content for your article then please contact <a href="http://www.medengine.com/Redeem/”mailto:[email protected]”"><b>[email protected]</b></a>.</p> <p>The journal offers a range of additional features designed to increase visibility and readership. All features will be thoroughly peer reviewed to ensure the content is of the highest scientific standard and all features are marked as ‘peer reviewed’ to ensure readers are aware that the content has been reviewed to the same level as the articles they are being presented alongside. Moreover, all sponsorship and disclosure information is included to provide complete transparency and adherence to good publication practices. This ensures that however the content is reached the reader has a full understanding of its origin. No fees are charged for hosting additional open access content.</p> <p>Other enhanced features include, but are not limited to:</p> <ul> <li>Slide decks</li> <li>Videos and animations</li> <li>Audio abstracts</li> <li>Audio slides</li> </ul

Additional file 7: Figure S5. of Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions

Gel electropherograms showing appropriate digestion pattern of spike-in controls. (PPB 3.31 mb

Clinical and laboratory findings of cases 1–3.

<p>DSD, disorders of sex development; MP, micropenis; HS, hypospadias; CO, cryptorchidism.</p><p>The hormone values below the reference range are boldfaced, and those above the reference range are italicized.</p>a<p>Reference values of the age-matched control individuals are shown in the parenthesis.</p

Genes affected by the cryptic deletions.

<p>Genes affected by the cryptic deletions.</p

Patients analyzed in the present study.

<p>DSD, disorders of sex development; HS, hypospadias.</p

Schematic representation of the genomic regions around the deletions.

<p>A. Terminal part of the short arm of chromosome 9. The black arrow denotes the deletion identified in case 1. The dotted arrows indicate the genomic intervals associated with DSD and for 9p- syndrome <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0068194#pone.0068194-Onesimo1" target="_blank">[13]</a>. The black box indicates the position of <i>DMRT1</i> that is likely to be associated with DSD in case 1. B. Terminal part of the short arm of chromosome 20. The black arrow denotes the deletion in case 2. The dotted arrow indicates the genomic region associated with facial dysmorphism and mental retardation <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0068194#pone.0068194-McGill1" target="_blank">[20]</a>. C. The 2q24.3–2q32.2 region. The black arrow denotes the deletion in case 3. The dotted arrow indicates the genomic region associated with facial dysmorphism and mental retardation <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0068194#pone.0068194-Dimitrov1" target="_blank">[22]</a>. The black box indicates the position of the <i>HOXD</i> cluster possibly associated with DSD in case 3.</p

Homology study showed that this amino acid was highly conserved through species for the c.1041C>A and c.1151C>T mutations.

<p>Homology study showed that this amino acid was highly conserved through species for the c.1041C>A and c.1151C>T mutations.</p

<i>TBX1</i> Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

<div><p>Background</p><p>Although <i>TBX1</i> mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of <i>TBX1</i> mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes.</p><p>Methodology/Principal Findings</p><p>We studied three subjects with craniofacial features and hypocalcemia (group 1), two subjects with craniofacial features alone (group 2), and three subjects with normal phenotype within a single Japanese family. Fluorescence <i>in situ</i> hybridization analysis excluded chromosome 22q11.2 deletion, and genomewide array comparative genomic hybridization analysis revealed no copy number change specific to group 1 or groups 1+2. However, exome sequencing identified a heterozygous <i>TBX1</i> frameshift mutation (c.1253delA, p.Y418fsX459) specific to groups 1+2, as well as six missense variants and two in-frame microdeletions specific to groups 1+2 and two missense variants specific to group 1. The <i>TBX1</i> mutation resided at exon 9C and was predicted to produce a non-functional truncated protein missing the nuclear localization signal and most of the transactivation domain.</p><p>Conclusions/Significance</p><p>Clinical features in groups 1+2 are well explained by the <i>TBX1</i> mutation, while the clinical effects of the remaining variants are largely unknown. Thus, the results exemplify the usefulness of exome sequencing in the identification of disease-causing mutations in familial disorders. Furthermore, the results, in conjunction with the previous data, imply that <i>TBX1</i> isoform C is the biologically essential variant and that <i>TBX1</i> mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.</p></div