Cardiac computed tomography in the management of iatrogenic coronary ostial stenosis after aortic valve replacement

Although rare, iatrogenic coronary ostial stenosis is an important complication of aortic valve replacement and Bentall procedure. We report a 32-year-old male presenting an acute coronary syndrome post-Bentall procedure and the role of computed tomography in diagnosis and management of iatrogenic coronary ostial stenosis. Such occlusions are commonly identified in the left main coronary artery, but can develop in venous bypass grafts at anastomoses with Dacron aortic grafts. Cardiac computed tomography is valuable to exclude noncoronary causes of chest pain, assess ostial stenosis of manipulated arteries post reimplantation, and shed light on mechanisms and management of these lesions.     

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Background

Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming.

Objectives

The aim of this study was to provide a simple multiplex amplification refractory mutation system PCR (M-ARMS-PCR) for screening eight common mutations in ATP7B gene.

Patients and Methods

Two sets of ARMS mutant and normal specific primer pairs were designed for genotyping of p.R778L, p.R969Q, p.H1069Q, and p.3400delC mutations as Set 1 and p.W779G, c.3061-1G > A, p.I1102T, and p.N1270S mutations as Set 2. The Multiplex ARMS assay was then subsequently tested in 65 patients with Wilson disease with known and unknown ATP7B mutations.

Results

Using these two sets, we identified H1069Q mutation in four patients, c.2335T > G mutation in three, c.3061-1G > A splice site mutation in five, c.3305T > C mutation in one, and c.3809A > G mutation in two patients.

Conclusions

The Multiplex ARMS assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with Wilson disease.     

临床表现似视网膜母细胞瘤的脉络膜黑色素细胞瘤1例(英文)

我们报道罕见的脉络膜黑色素细胞瘤1例,以视网膜母细胞瘤之诊断行眼球内容物剜除术。患儿14mo,以左眼外斜视约10mo主诉就诊。眼科检查及影像学检查显示视网膜脱离并钙化病灶。患儿诊断为视网膜母细胞瘤,患眼行眼球内容物剜除术。组织病理学检查显示肿瘤细胞体积大,多面体型,核小,胞浆含大量黑色素颗粒,提示脉络膜及睫状体黑素细胞瘤之诊断。以往有脉络膜及睫状体黑色素细胞瘤表现类似与恶性黑素瘤的报道,但是,黑色素细胞瘤表现为钙化病灶及视网膜脱离,被误诊为视网膜母细胞瘤,此病例罕见,以往未见报道。     

Ermin deficiency leads to compromised myelin,inflammatory milieu,and susceptibility to demyelinating insult

Ermin is an actin‐binding protein found almost exclusively in the central nervous system (CNS) as a component of myelin sheaths. Although Ermin has been predicted to play a role in the formation and stability of myelin sheaths, this has not been directly examined in vivo. Here, we show that Ermin is essential for myelin sheath integrity and normal saltatory conduction. Loss of Ermin in mice caused de‐compacted and fragmented myelin sheaths and led to slower conduction along with progressive neurological deficits. RNA sequencing of the corpus callosum, the largest white matter structure in the CNS, pointed to inflammatory activation in aged Ermin‐deficient mice, which was corroborated by increased levels of microgliosis and astrogliosis. The inflammatory milieu and myelin abnormalities were further associated with increased susceptibility to immune‐mediated demyelination insult in Ermin knockout mice. Supporting a possible role of Ermin deficiency in inflammatory white matter disorders, a rare inactivating mutation in the ERMN gene was identified in multiple sclerosis patients. Our findings demonstrate a critical role for Ermin in maintaining myelin integrity. Given its near‐exclusive expression in myelinating oligodendrocytes, Ermin deficiency represents a compelling “inside‐out” model of inflammatory dysmyelination and may offer a new paradigm for the development of myelin stability‐targeted therapies.     

Mobile bioluminescence tomography-guided system for pre-clinical radiotherapy research

Due to low imaging contrast, a widely-used cone-beam computed tomography-guided small animal irradiator is less adept at localizing in vivo soft tissue targets. Bioluminescence tomography (BLT), which combines a model of light propagation through tissue with an optimization algorithm, can recover a spatially resolved tomographic volume for an internal bioluminescent source. We built a novel mobile BLT system for a small animal irradiator to localize soft tissue targets for radiation guidance. In this study, we elaborate its configuration and features that are indispensable for accurate image guidance. Phantom and in vivo validations show the BLT system can localize targets with accuracy within 1 mm. With the optimal choice of threshold and margin for target volume, BLT can provide a distinctive opportunity for investigators to perform conformal biology-guided irradiation to malignancy.     

Ewing sarcoma of the jaws

Three cases of Ewing sarcoma in the jaw bones are presented. The first patient is a 43-year-old woman with a rapidly growing tumor in the hard palate. The second patient is a 9-year-old girl with tumor in the left mandibular ramus and body. In both patients, the tumors were excised with significant safe margins. However, postoperative histopathologic evaluation revealed the presence of tumor cells in bony margins, necessitating a second surgery. The third patient is a 9-year-old boy with tumor in the right mandibular ramus and body. In patients 1 and 2, chemotherapy failed to control the tumor; however, in patient 3, chemotherapy resulted in significant shrinkage of the tumor and no further growth.     

Histological characterization of the special venom secretory cells in the stinger of rays in the northern waters of Persian Gulf and Oman Sea

Rays are common elasmobranches in the northern waters of Persian Gulf and Oman Sea that may have one or more mineralized serrated stingers on the whip-like tail. The stingers are covered by epidermal cells among which some can produce venom. When these animals are dorsally touched, the stinger can be introduced into the aggressor by a whip reflex mechanism of the tail when the pectoral fins are touched, causing severe mechanical injuries and inoculating the venom. The exact localization of the venom secretory cells in the stinger of different species is controversial, but it is known that the cells are preferentially located in the ventro-lateral grooves in marine stingrays. A comparative morphological characterization of the stinger epidermal tissue of different ray species in the northern part of Persian Gulf and Oman Sea was carried out in this study. EDTA was used for decalcification of stings and conventional histological processes were subsequently employed. The results indicated that structure of dermis and epidermis layers of stings in all species are similar to the structure of corresponding layers in other parts of fish's body. The results of the present study have shown that all examined species of Dasyatidae family, but not Myliobatidae and Gymnuridae families, had venom secretory cells. Distribution of venom secretory cells varies in each species and is often located around or inside the stinger ventro-lateral grooves. These differences among the stingers of various species may explain the envenomation severity in these species.