Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patients was 8.5 months (range: 20 days–21 months). Half of them had positive family histories, with a shorter diagnosis lag. The most common symptoms were recurrent sinopulmonary infections (18 patients, 90%), neutropenia (14 patients, 70%), oral ulcer (13 patients, 65%), and protracted diarrhea (13 patients, 65%). Six patients had BCGitis. Six patients received hematopoietic stem cell transplantations and four of them had immune reconstructions and clinical remissions. Eighteen unique mutations in CD40L gene were identified in these 20 patients from 19 unrelated families, with 12 novel mutations. We compared with reported mutation results and used bioinformatics software to predict the effects of mutations on the target protein. These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM

Photon orbits and phase transition for Non-Linear charged Anti-de Sitter black holes

In this work, we investigate the relationship between the photon sphere radius and the first-order phase transition for the charged EPYM AdS black hole. Through the analysis, we find with a certain condition there exist the non-monotonic behaviors between the photon sphere radius, the impact parameter, the non-linear YM charge parameter, temperature, and pressure. And both the changes of photon sphere radius and impact parameter before and after phase transition can be regarded as the order parameter, their critical exponents near the critical point are equal to the same value $1/2$, just like the ordinary thermal systems. These indicate that there maybe exists a universal relationship of gravity nearby the critical point for a black hole thermodynamical system. Furthermore, the effect of impact parameter on the deflect angle is also investigated

Millimeter Spectral Line Mapping Observations Toward Four Massive Star Forming HII Regions

We present spectral line mapping observations toward four massive star-forming regions (Cepheus A, DR21S, S76E and G34.26+0.15), with the IRAM 30 meter telescope at 2 mm and 3 mm bands. Totally 396 spectral lines from 51 molecules, one helium recombination line, ten hydrogen recombination lines, and 16 unidentified lines were detected in these four sources. An emission line of nitrosyl cyanide (ONCN, 14$_{0,14}$-13$_{0,13}$) was detected in G34.26+0.15, as first detection in massive star-forming regions. We found that the $c$-C$_{3}$H$_{2}$ and NH$_{2}$D show enhancement in shocked regions as suggested by evidences of SiO and/or SO emission. Column density and rotational temperature of CH$_{3}$CN were estimated with the rotational diagram method for all four sources. Isotope abundance ratios of $^{12}$C/$^{13}$C were derived using HC$_{3}$N and its $^{13}$C isotopologue, which were around 40 in all four massive star-forming regions and slightly lower than the local interstellar value ($\sim$65). $^{14}$N/$^{15}$N and $^{16}$O/$^{18}$O abundance ratios in these sources were also derived using double isotopic method, which were slightly lower than that in local interstellar medium. Except for Cep A, $^{33}$S/$^{34}$S ratio in the other three targets were derived, which were similar to that in the local interstellar medium. The column density ratios of N(DCN)/N(HCN) and N(DCO$^{+}$)/N(HCO$^{+}$) in these sources were more than two orders of magnitude higher than the elemental [D]/[H] ratio, which is 1.5$\times$10$^{-5}$. Our results show the later stage sources, G34.26+0.15 in particular, present more molecular species than earlier stage ones. Evidence of shock activity is seen in all stages studied.Comment: 32 pages, 11 figures, 8 tables, accepted for publication in MNRA

2,2′-(Butane-1,4-di­yl)diisoquinolinium tetra­chloridozincate(II)

The crystal of the title compound, (C22H22N2)[ZnCl4], consists of 2,2′-(butane-1,4-di­yl)diisoquinolinium organic cations and [ZnCl4]2− complex anions. The cation is located across a twofold axis and the ZnII atom of the anion is located on the other twofold axis. The centroid–centroid distance between parallel pyridine rings of neighboring mol­ecules is 3.699 (3) Å, but the face-to-face separation of 3.601 (3) Å suggests there is no significant π–π stacking in the crystal structure

2-Methyl-1-phenyl-1H-indole-3-carbo­nitrile

In the title compound, C16H12N2, the dihedral angle between the indole ring system and the pendant phenyl ring is 64.92 (5)°. The crystal packing features aromatic π–π stacking [centroid–centroid separation = 3.9504 (9) Å] and C—H⋯π inter­actions

Newton-Cartan Gravity and Torsion

We compare the gauging of the Bargmann algebra, for the case of arbitrary torsion, with the result that one obtains from a null-reduction of General Relativity. Whereas the two procedures lead to the same result for Newton-Cartan geometry with arbitrary torsion, the null-reduction of the Einstein equations necessarily leads to Newton-Cartan gravity with zero torsion. We show, for three space-time dimensions, how Newton-Cartan gravity with arbitrary torsion can be obtained by starting from a Schroedinger field theory with dynamical exponent z=2 for a complex compensating scalar and next coupling this field theory to a z=2 Schroedinger geometry with arbitrary torsion. The latter theory can be obtained from either a gauging of the Schroedinger algebra, for arbitrary torsion, or from a null-reduction of conformal gravity.Comment: 21 page

1-(2-Chloro­phenyl)-6-fluoro-2-methyl-1H-indole-3-carbonitrile

In the title compound, C16H10ClFN2, the dihedral angle between the indole ring system and the benzyl ring is 80.91 (5)°. The crystal packing features C—H⋯Cl, C—H⋯F and C—H⋯π inter­actions

A peripherally inserted central vein catheter fractured and slid into the right pulmonary artery: A case report

AbstractCatheter fracture is a rare but serious complication of a peripherally inserted central catheter (PICC). An adolescent patient was sent to Tianjin Medical University General Hospital (Tianjin, China) because the PICC was fractured when removed by a nurse. Chest X-ray showed that the PICC fragment slid into the right pulmonary artery. Through emergency surgery, the remainder of the PICC was successfully retrieved by an interventional operation percutaneously via the right femoral vein. PICC fracture is less common and always without significant discomfort if not found timely, and it may lead to serious complications, such as pulmonary embolism, and even death. Thus, nurses, patients and their family members should pay enough attention to the daily maintenance of PICC and have a deep understanding of the reasons associated with PICC fracture as well as how to prevent it. Interventional operation is minimally invasive, which is a good choice for the removal of intravascular foreign bodies, leading to fewer complications and a good prognosis