Impact of imaging protocol on left ventricular ejection fraction using gated-SPECT myocardial perfusion imaging

10noopenopenMarcassa, C; Giubbini, R.; Acampa, W.; Cittanti, C.; Djepaxhija, O.; Gimelli, A.; Kokomani, A.; Medolago, G.; Milan, E.; Sciagrà, R.Marcassa, C; Giubbini, Raffaele; Acampa, W.; Cittanti, C.; Djepaxhija, O.; Gimelli, A.; Kokomani, A.; Medolago, Giuseppe; Milan, E.; Sciagrà, R

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. Objectives To delineate the phenotypic spectrum associated with interstitial 16p13.3 duplications, and perform a genotype-phenotype analysis. Results The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, the duplication arose de novo. Conclusions Interstitial 16p13.3 duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The frequent de novo occurrence of 16p13.3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant

Reciprocating Compressor 1D Thermofluid Dynamic Simulation: Problems and Comparison with Experimental Data

The authors here extend a 0D-1D thermofluid dynamic simulation approach to describe the phenomena internal to the volumetric machines, reproducing pressure waves' propagation in the ducts. This paper reports the first analysis of these phenomena in a reciprocating compressor. The first part presents a detailed experimental analysis of an open-type reciprocating compressor equipped with internal sensors. The second part describes a 0D-1D thermofluid dynamic simulation of the compressor. Comparison of computed and measured values of discharge mass flow rate shows a good agreement between results for compression ratio < 5 . Then, to improve the model fitting at higher pressures, a new scheme has been developed to predict the blow-by through the ring pack volumes. This model is based on a series of volumes and links which simulate the rings' motions inside the grooves, while the ring dynamics are imposed using data from the literature about blow-by in internal combustion engines. The validation is obtained comparing experimental and computing data of the two cylinder engine blowby. After the validation, a new comparison of mass flow rate on the compressor shows a better fitting of the curves at higher compression ratio

Reporting nuclear cardiology: a joint position paper by the European Association of Nuclear Medicine (EANM) and the European Association of Cardiovascular Imaging (EACVI)

The report of an imaging procedure is a critical component of an examination, being the final and often the only communication from the interpreting physician to the referring or treating physician. Very limited evidence and few recommendations or guidelines on reporting imaging studies are available; therefore, an European position statement on how to report nuclear cardiology might be useful. The current paper combines the limited existing evidence with expert consensus, previously published recommendations as well as current clinical practices. For all the applications discussed in this paper (myocardial perfusion, viability, innervation, and function as acquired by single photon emission computed tomography and positron emission tomography or hybrid imaging), headings cover laboratory and patient demographics, clinical indication, tracer administration and image acquisition, findings, and conclusion of the report. The statement also discusses recommended terminology in nuclear cardiology, image display, and preliminary reports. It is hoped that this statement may lead to more attention to create well-written and standardized nuclear cardiology reports and eventually lead to improved clinical outcom

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

<p>Abstract</p> <p>Background</p> <p><it>RNF139/TRC8 </it>is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. <it>TRC8 </it>has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC) and thyroid cancers. Haploinsufficiency of <it>TRC8 </it>may facilitate development of clear cell-RCC in association with <it>VHL </it>mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma.</p> <p>Methods</p> <p>The translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes <it>TRC8 </it>and <it>TSN </it>was tested both on dysgerminoma and in the proposita and her father.</p> <p>Results</p> <p>The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR) involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. <it>TRC8 </it>was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary.</p> <p><it>TRC8 </it>is a target of Translin (TSN), a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells.</p> <p>Conclusion</p> <p>A role for <it>TRC8 </it>in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of <it>TRC8 </it>is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.</p

Myocardial stress perfusion scintigraphy for outcome prediction in patients with severe left ventricular systolic dysfunction

Abstract: Coronary angiography has been recommended in all patients with suspected chronic coronary syndrome and left ventricular ejection fraction (LVEF) ≤35%. The role of ischemia testing, for example, through stress-rest myocardial perfusion scintigraphy (MPS), for risk prediction is not well established. Methods: We evaluated 1576 consecutive patients referred to MPS and stratified into 3 LV ejection fraction (LVEF) categories: ≤35%, 36–49%, and ≥ 50%. Results: Patients with LVEF ≤35% were oldest, most often men, and with the highest likelihood of prior early (elective or urgent) coronary revascularization. They had also the highest values or summed stress score (SSS), summed rest score (SRS), and summed difference score (SDS), as well as the highest frequency of significant coronary artery disease, and a greater number of diseased vessels. Follow-up: In this subgroup, 32 cardiovascular death or non-fatal myocardial infarction (MI) (21%), 35 all-cause deaths (22%), and 37 cardiovascular deaths, non-fatal MI, or late revascularizations (27%) were recorded with the shortest survival among all LVEF classes. SRS, SSS, and SDS had very low area under the curve values for the prediction of the 3 endpoints, with very high cut-offs, respectively. SRS and SSS cut-offs predicted a worse outcome in Cox regression models including the number of diseased vessels and early revascularization. Conclusions: In patients with LVEF ≤35%, SRS and SSS are less predictive of outcome than in patients with better preserved systolic dysfunction, but their cut-offs retain independent prognostic significance from the number of vessels with significant stenoses and from early revascularization