Temperature dependence of viscosity, relaxation times (T1, T2) and simulated contrast for potential perfusates in post-mortem MR angiography (PMMRA).

Developments in post-mortem imaging increasingly focus on addressing recognised diagnostic weaknesses, especially with regard to suspected natural deaths. Post-mortem MR angiography (PMMRA) may offer additional diagnostic information to help address such weaknesses, specifically in the context of sudden cardiac death. Complete filling of the coronary arteries and acceptable contrast with surrounding tissue are essential for a successful approach to PMMRA. In this work, the suitability of different liquids for inclusion in a targeted PMMRA protocol was evaluated. Factors influencing cooling of paraffinum liquidum + Angiofil® (6 %) in cadavers during routine multiphase post-mortem CT angiography were investigated. The temperature dependence of dynamic viscosity (8-20 °C), longitudinal (T1) and transverse (T2) relaxation (1-23 °C) of the proposed liquids was quadratically modelled. The relaxation behaviour of these liquids and MR scan parameters were further investigated by simulation of a radiofrequency (RF)-spoiled gradient echo (GRE) sequence to estimate potentially achievable contrast between liquids and post-mortem tissue at different temperatures across a forensically relevant temperature range. Analysis of the established models and simulations indicated that based on dynamic viscosity (27-33 mPa · s), short T1 relaxation times (155-207 ms) and a minimal temperature dependence over the investigated range of these parameters, paraffin oil and a solution of paraffin oil + Angiofil® (6 %) would be most suitable for post-mortem reperfusion and examination in MRI

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise tolerance as a consequence of ventricular dysfunction, the result of embolus or with palpitations and syncope due to arrhythmia. There is no specific treatment directed at isolated noncompaction. Treatment is focused on the cause of presentation, with medication aimed at improving ventricular dysfunction, as well as treating and preventing thrombosis and arrhythmia.</p> <p>Case presentation</p> <p>Our patient presented with an episode of decompensated heart failure. Trans-thoracic echocardiography demonstrated excessive trabeculation with inter-trabecular recesses in the left ventricle typical of noncompaction of the left ventricle. The patient's admission was complicated by a cardiac arrest precipitated by ventricular tachycardia for which she subsequently underwent implantation of an automatic implantable cardioverter defibrillator.</p> <p>Conclusion</p> <p>This is, as far as we know, the first case report of the co-existence of nephropathic cystinosis and isolated noncompaction of the left ventricle. It highlights the importance of being vigilant to the diagnosis of left ventricular noncompaction.</p

Cardiovascular magnetic resonance findings in a pediatric population with isolated left ventricular non-compaction

<p>Abstract</p> <p>Background</p> <p>Isolated Left Ventricular Non-compaction (LVNC) is an uncommon disorder characterized by the presence of increased trabeculations and deep intertrabecular recesses. In adults, it has been found that Ejection Fraction (EF) decreases significantly as non-compaction severity increases. In children however, there are a few data describing the relation between anatomical characteristics of LVNC and ventricular function. We aimed to find correlations between morphological features and ventricular performance in children and young adolescents with LVNC using Cardiovascular Magnetic Resonance (CMR).</p> <p>Methods</p> <p>15 children with LVNC (10 males, mean age 9.7 y.o., range 0.6 - 17 y.o.), underwent a CMR scan. Different morphological measures such as the Compacted Myocardial Mass (CMM), Non-Compaction (NC) to the Compaction (C) distance ratio, Compacted Myocardial Area (CMA) and Non-Compacted Myocardial Area (NCMA), distribution of NC, and the assessment of ventricular wall motion abnormalities were performed to investigate correlations with ventricular performance. EF was considered normal over 53%.</p> <p>Results</p> <p>The distribution of non-compaction in children was similar to published adult data with a predilection for apical, mid-inferior and mid-lateral segments. Five patients had systolic dysfunction with decreased EF. The number of affected segments was the strongest predictor of systolic dysfunction, all five patients had greater than 9 affected segments. Basal segments were less commonly affected but they were affected only in these five severe cases.</p> <p>Conclusion</p> <p>The segmental pattern of involvement of non-compaction in children is similar to that seen in adults. Systolic dysfunction in children is closely related to the number of affected segments.</p

Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis

Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII). Clinical manifestations of the disease span from the severe infantile form, leading to death during childhood, to the classical form, which presents mainly with exercise intolerance. PFKM deficiency is considered as a skeletal muscle glycogenosis, but the relative contribution of altered glucose metabolism in other tissues to the pathogenesis of the disease is not fully understood. To elucidate this issue, we have generated mice deficient for PFKM (Pfkm−/−). Here, we show that Pfkm−/− mice had high lethality around weaning and reduced lifespan, because of the metabolic alterations. In skeletal muscle, including respiratory muscles, the lack of PFK activity blocked glycolysis and resulted in considerable glycogen storage and low ATP content. Although erythrocytes of Pfkm−/− mice preserved 50% of PFK activity, they showed strong reduction of 2,3-biphosphoglycerate concentrations and hemolysis, which was associated with compensatory reticulocytosis and splenomegaly. As a consequence of these haematological alterations, and of reduced PFK activity in the heart, Pfkm−/− mice developed cardiac hypertrophy with age. Taken together, these alterations resulted in muscle hypoxia and hypervascularization, impaired oxidative metabolism, fiber necrosis, and exercise intolerance. These results indicate that, in GSDVII, marked alterations in muscle bioenergetics and erythrocyte metabolism interact to produce a complex systemic disorder. Therefore, GSDVII is not simply a muscle glycogenosis, and Pfkm−/− mice constitute a unique model of GSDVII which may be useful for the design and assessment of new therapies

European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment

To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment options, only a limited number of studies meets rigorous quality criteria. Therefore, we have devised a two-stage approach. First, we present the highest level of evidence by reporting the findings of existing Cochrane reviews in this field. Subsequently, we provide the first comprehensive overview of all reports on pharmacological treatment options for TS through a MEDLINE, PubMed, and EMBASE search for all studies that document the effect of pharmacological treatment of TS and other tic disorders between 1970 and November 2010. We present a summary of the current consensus on pharmacological treatment options for TS in Europe to guide the clinician in daily practice. This summary is, however, rather a status quo of a clinically helpful but merely low evidence guideline, mainly driven by expert experience and opinion, since rigorous experimental studies are scarce