Storms drive outgassing of CO2 in the subpolar Southern Ocean

The subpolar Southern Ocean is a critical region where CO2 outgassing influences the global mean air-sea CO2 flux (FCO2). However, the processes controlling the outgassing remain elusive. We show, using a multi-glider dataset combining FCO2 and ocean turbulence, that the air-sea gradient of CO2 (∆pCO2) is modulated by synoptic storm-driven ocean variability (20 µatm, 1–10 days) through two processes. Ekman transport explains 60% of the variability, and entrainment drives strong episodic CO2 outgassing events of 2–4 mol m−2 yr−1. Extrapolation across the subpolar Southern Ocean using a process model shows how ocean fronts spatially modulate synoptic variability in ∆pCO2 (6 µatm2 average) and how spatial variations in stratification influence synoptic entrainment of deeper carbon into the mixed layer (3.5 mol m−2 yr−1 average). These results not only constrain aliased-driven uncertainties in FCO2 but also the effects of synoptic variability on slower seasonal or longer ocean physics-carbon dynamics.

Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms

Down syndrome (DS) is caused by trisomy of chromosome 21 and it is the most common genetic cause of intellectual disability (ID) in humans. Subjects with DS show a typical phenotype marked by facial dysmorphisms and ID. Partial trisomy 21 (PT21) is a rare genotype characterized by the duplication of a delimited chromosome 21 (Hsa21) portion and it may or may not be associated with DS diagnosis. The highly restricted Down syndrome critical region (HR-DSCR) is a region of Hsa21 present in three copies in all individuals with PT21 and a diagnosis of DS. This region, located on distal 21q22.13, is 34 kbp long and does not include characterized genes. The HR-DSCR is annotated as an intergenic region between KCNJ6-201 transcript encoding for potassium inwardly rectifying channel subfamily J member 6 and DSCR4-201 transcript encoding Down syndrome critical region 4. Two transcripts recently identified by massive RNA-sequencing (RNA-Seq) and automatically annotated on Ensembl database reveal that the HR-DSCR seems to be partially crossed by KCNJ6-202 and DSCR4-202 isoforms. KCNJ6-202 shares the coding sequence with KCNJ6-201 which is involved in many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells. DSCR4-202 transcript has the first two exons in common with DSCR4-201, the only experimentally verified gene uniquely present in Hominidae. In this study, we performed in silico and in vitro analyses of the HR-DSCR. Bioinformatic data, obtained using Sequence Read Archive (SRA) and SRA-BLAST software, were confirmed by Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and Sanger sequencing on a panel of human tissues. Our data demonstrate that the HR-DSCR cannot be defined as an intergenic region. Further studies are needed to investigate the functional role of the new transcripts, likely involved in DS phenotypes.

Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

Stress Evaluation in the Blank Critical Region During Extrusion of the Pipe Blank into the Hole

The study assessed the stress state of the pipe blank in the process of extrusion into the hole. A finite element formulation of the research problem with the setting of boundary conditions in displacements and surface loading conditions is presented. The calculation of the workpiece was carried out in an elastic formulation using the Nastran engineering analysis application. The assessment of the stress state in the critical region is presented in two approximations with a thickening of the grid in the stress focus area. Based on the results of the distribution of equivalent stresses, an assessment of the unevenness of the stressed state of the workpiece was carried out. The presented study is important because it allows us to predict the appearance of defects in the process of forming a pipe billet during extrusion into a hole, to evaluate the power loading mode.

Loss of Heterozygosity on the Distal Long Arm of Chromosome 15: An Allusion for Prader-willi Syndromes?

BackgroundPrader-Willi syndrome (PWS) is a rare neurodevelopmental disorder that is partially caused by maternal uniparental disomy (UPD) of chromosome 15. Copy-neutral loss of heterozygosity (CN-LOH) observed on the distal long arm of chromosome 15 may be an indicator of UPD and may require additional genetic testing as chromosome 15 is known to harbor imprinted genes.MethodsChromosome microarray (CMA) was performed for two children with developmental disabilities or congenital anomalies. The results showed CN-LOH on the distal long arm of chromosome 15. Thereafter, methylation-specific PCR (MS-PCR) or methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to confirm the diagnosis of PWS.ResultsMS-PCR did not detect an unmethylated allele for the SNRPN gene or MS-MLPA hypermethylation in 15q11.2-q13.1 region, supporting the diagnosis of PWS.ConclusionsThese data suggested that LOH on chromosome 15, and even the critical region of 15q11.2q13.1 was not involved, perhaps due to partial heterodisomy and partial isodisomy UPD15. Hence, other genetic tests are warranted for the diagnosis of PWS.

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contiguous gene syndrome characterized by RB, developmental anomalies, and peculiar facial dysmorphisms. Overlapping deletions previously found by traditional and/or molecular cytogenetic analysis allowed to define some critical regions for intellectual disability (ID) and multiple congenital anomalies, with key candidate genes. In the present study, using array-CGH, we characterized seven new patients with interstitial 13q deletion involving RB1. Among these cases, three patients with medium or large 13q deletions did not present psychomotor delay. This allowed defining a minimal critical region for ID that excludes the previously suggested candidate genes (HTR2A, NUFIP1, PCDH8, and PCDH17). The region contains 36 genes including NBEA, which emerged as the candidate gene associated with developmental delay. In addition, MAB21L1, DCLK1, EXOSC8, and SPART haploinsufficiency might contribute to the observed impaired neurodevelopmental phenotype. In conclusion, this study adds important novelties to the 13q deletion syndrome, although further studies are needed to better characterize the contribution of different genes and to understand how the haploinsufficiency of this region can determine ID.

Entanglement wedge minimum cross-section in holographic massive gravity theory

We study the entanglement wedge cross-section (EWCS) in holographic massive gravity theory, in which a first and second-order phase transition can occur. We find that the mixed state entanglement measures, the EWCS and mutual information (MI) can characterize the phase transitions. The EWCS and MI show exactly the opposite behavior in the critical region, which suggests that the EWCS captures distinct degrees of freedom from that of the MI. More importantly, EWCS, MI and HEE all show the same scaling behavior in the critical region. We give an analytical understanding of this phenomenon. By comparing the quantum information behavior in the thermodynamic phase transition of holographic superconductors, we analyze the relationship and difference between them and provide two mechanisms of quantum information scaling behavior in the thermodynamic phase transition.