ALMA ACA detection of submillimeter emission associated with the west hot spot of the radio galaxy Pictor A

In order to investigate the far-infrared excess detected from the west hot spot of the radio galaxy Pictor A with the Herschel observatory, a submillimeter photometry is performed with the Atacama Compact Array (ACA) of the Atacama Large Millimeter/submillimeter Array at Band 8 with the reference frequency of 405 GHz. A submillimeter source is discovered at the radio peak of the hot spot. Because the 405 GHz flux density of the source, $80.7\pm3.1$ mJy, agrees with the extrapolation of the synchrotron radio spectrum, the far-infrared excess is suggested to exhibit no major contribution at the ACA band. In contrast, by subtracting the power-law spectrum tightly constrained by the radio and ACA data, the significance of the excess in the Herschel band is well confirmed. No diffuse submillimeter emission is detected within the ACA field of view, and thus, the excess is ascribed to the west hot spot itself. In comparison to the previous estimate based on the Herschel data, the relative contribution of the far-infrared excess is reduced by a factor of $\sim 1.5$. The spectrum of the excess below the far-infrared band is determined to be harder than that of the diffusive shock acceleration. This strengthens the previous interpretation that the excess originates via the magnetic turbulence in the substructures within the hot spot. The ACA data are utilized to evaluate the magnetic field strength of the excess and of diffuse radio structure associated to the hot spot.Comment: 10 pages,4 figures, 3 tables, accepted for Ap

Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome

Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia that is characterized by thoracic hypoplasia, polydactyly, oral abnormalities, and congenital heart disease. It is caused by pathogenic variants in the EVC or EVC2 genes. We report a case of a newborn with a compound heterozygous variant comprising NM_147127.5: c.1991dup:[p.Lys665Glufs*10] in the EVC2 gene and a novel large deletion involving exon 1 in EVC and exons 1–7 in EVC2

NICU・GCUを退院したSGA児の予後

【Background】Small for gestational age (SGA) infants have multiple risk factors for short stature, developmental disorders, and metabolic diseases in adulthood. Our institute which plays central roles in perinatal medicine in Tokushima prefecture has many high risk pregnant women, therefore a relatively large number of SGA infants admitted to neonatal intensive care unit (NICU) and growth care unit (GCU). 【Objective】To elucidate the prognosis such as short stature, neurodevelopmental disorder and mental retardation of SGA infants discharged from NICU and GCU in our hospital. 【Method】SGA patients discharged from NICU and GCU in our hospital between 2012 and 2014 were enrolled in this study. Clinical data were collected from medical charts. 【Results】There were 106 SGA infants (19.5%) discharged from NICU/GCU for 3 years. We excluded patients with congenital malformation syndrome, chromosomal abnormality, neuromuscular disorder, death and lost of follow-up, and finally 75 SGA infants were enrolled. Four SGA infants (5%) required growth hormone (GH) treatment for short stature and all of them were promoted growth significantly. Three SGA infants (4%) showed attention deficit hyperactivity disorder and/or autism spectrum disorder, and 5 SGA infants (6%) presented with mental retardation. 【Conclusion】This study revealed the prognosis of SGA infants discharged from NICU and GCU in our hospital. Further large cohort with long-term observation is required