The role of the pediatrician in the management of the child and adolescent with gender dysphoria.

Gender dysphoria is a clinical condition characterized by significant distress due to the discordance between biological sex and gender identity. Currently, gender dysphoria is also found more frequently in children and adolescents, thanks to greater social sensibleness and new therapeutic possibilities. In fact, it is estimated that the prevalence of gender dysphoria in pediatric age is between 0.5% and 2% based on the statistics of the various countries. Therefore, the pediatrician cannot fail to update himself on these issues and above all should be the reference figure in the management of these patients. Even if the patient must be directed to a referral center and be followed up by a multidisciplinary team, the treating pediatrician will care to coordinate the clinical and therapeutic framework. The aim of the present report is therefore to integrate literature data with our clinical experience to propose a new clinical approach in which the pediatrician should be the reference in the care of these patients, directing them towards the best therapeutic approach and staying in contact with the specialists of the referral center.

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome.

DiGeorge syndrome (DGS) is a rare genetic disease caused by microdeletions of the 22q11.2 region (DGS1). A haploinsufficiency at 10p level has been proposed also as a DGS cause (DGS2). Clinical manifestations are variable. The most frequent features are thymic hypoplasia or aplasia with consequent immune deficiency, cardiac malformations, hypoparathyroidism, facial and palatine abnormalities, variable degrees of cognitive impairment and psychiatric disorders. The specific aim of this descriptive report is to discuss the correlation between oxidative stress and neuroinflammation in DGS patients with microdeletions of the 22q11.2 region. The deleted chromosomic region maps various genes involved in mitochondrial metabolisms, such as DGCR8 and TXNRD2, that could lead to reactive oxygen species (ROS) increased production and antioxidant depletion. Furthermore, increased levels of ROS in mitochondria would lead to the destruction of the projection neurons in the cerebral cortex with consequent neurocognitive impairment. Finally, the increase in modified protein belonging to the family of sulfoxide compounds and hexoses, acting as inhibitors of the IV and V mitochondria complex, could result in direct ROS overproduction. Neuroinflammation in DGS individuals could be directly related to the development of the syndrome's characteristic psychiatric and cognitive disorders. In patients with psychotic disorders, the most frequent psychiatric manifestation in DGS, Th-17, Th-1 and Th-2 cells are increased with consequent elevation of proinflammatory cytokine IL-6 and IL1ß. In patients with anxiety disorders, both CD3 and CD4 are increased. Some patients with autism spectrum disorders (ASDs) have an augmented level of proinflammatory cytokines IL-12, IL-6 and IL-1ß, while IFNγ and the anti-inflammatory cytokine IL-10 seem to be reduced. Other data proposed that altered synaptic plasticity could be directly involved in DGS cognitive disorders. In conclusion, the use of antioxidants for restoring mitochondrial functionality in DGS could be a useful tool to protect cortical connectivity and cognitive behavior.

Dynamic Computed Tomography Myocardial Perfusion Imaging: Comparison of Clinical Analysis Methods for the Detection of Vessel-Specific Ischemia.

BACKGROUND: The clinical analysis of myocardial dynamic computed tomography myocardial perfusion imaging lacks standardization. The objective of this prospective study was to compare different analysis approaches to diagnose ischemia in patients with stable angina referred for invasive coronary angiography. METHODS AND RESULTS: Patients referred for evaluation of stable angina symptoms underwent adenosine-stress dynamic computed tomography myocardial perfusion imaging with a second-generation dual-source scanner. Quantitative perfusion parameters, such as blood flow, were calculated by parametric deconvolution for each myocardial voxel. Initially, perfusion parameters were extracted according to standard 17-segment model of the left ventricle (fully automatic analysis). These were then manually sampled by an operator (semiautomatic analysis). Areas under the receiver-operating characteristic curves of the 2 different approaches were compared. Invasive fractional flow reserve ≤0.80 or diameter stenosis ≥80% on quantitative coronary angiography was used as reference standard to define ischemia. We enrolled 115 patients (88 men; age 57±9 years). There were 72 of 286 (25%) vessels causing ischemia in 52 of 115 (45%) patients. The semiautomatic analysis method was better than the fully automatic method at predicting ischemia (areas under the receiver-operating characteristic curves, 0.87 versus 0.69; P<0.001) with readings obtained in the endocardial myocardium performing better than those in the epicardial myocardium (areas under the receiver-operating characteristic curves, 0.87 versus 0.72; P<0.001). The difference in performance between blood flow, expressed as relative to remote myocardium, and absolute blood flow was not statistically significant (areas under the receiver-operating characteristic curves, 0.90 versus 0.87; P=ns). CONCLUSIONS: Endocardial perfusion parameters obtained by semiautomatic analysis of dynamic computed tomography myocardial perfusion imaging may permit robust discrimination between coronary vessels causing ischemia versus not causing ischemia.

MDCT assessment of CAD in type-2 diabetic subjects with diabetic neuropathy: the role of Charcot neuro-arthropathy.

OBJECTIVES: To compare the CACS and CAD severity assessed by MDCT in neuropathic type-2 diabetic patients with and without Charcot-neuroarthropathy (CN). METHODS: Thirty-four CN asymptomatic-patients and 36 asymptomatic-patients with diabetic-neuropathy (DN) without CN underwent MDCT to assess CACS and severity of CAD. Patients were classified as positive for significant CAD in presence of at least one stenosis >50 % on MDCT-coronary-angiography (MDCT-CA). Groups were matched for age, sex and traditional CAD risk-factors. The coronary-angiography (CA) was performed in all patients with at least a significant stenosis detected by MDCT-CA, both as reference and eventually as treatment. RESULTS: CN patients showed higher rates of significant CAD in comparison with DN subjects [p < 0.001], while non-significant differences were observed in CACS (p = 0.980). No significant differences were also observed in CACS distribution in all subjects for stenosis ≥/<50 % (p = 0.814), as well as in both groups (p = 0.661 and 0.559, respectively). The MDCT-CA showed an overall diagnostic-accuracy for significant CAD of 87%. CONCLUSIONS: These preliminary data suggest that CN-patients have a higher prevalence of severe CAD in comparison with DN-patients, while coronary plaques do not exhibit an increased amount of calcium. MDCT may be helpful to assess the CV risk in such asymptomatic type-2-diabetic patients with autonomic-neuropathy. KEY POINTS: Type 2-diabetic-patients with CN result having more severe coronary artery plaque-burden. MDCT-CA may stratify the CV risk in type 2-diabetic-patients with CN. Adequate diagnostic is mandatory for optimal management of type 2-diabetic-patients with CN.

Comprehensive CT cardiothoracic imaging: a new challenge for chest imaging.

In the past, thoracic and cardiac imaging were two distinct specialties of radiology. The technical evolution, however, has changed their boundaries with an important impact on CT imaging practices and has opened the new era of "cardiothoracic" imaging, due to the strong anatomic, mechanical, physiologic, physiopathologic, and therapeutic cardiopulmonary correlations. Modern thoracic radiologists can no longer avoid the assessment of heart and coronary arteries, as they used to do with earlier generations of CT scanner. The advent of ECG gating and state-of-art CT scanner faster rotation speed, high spatial and temporal resolution, high-pitch mode, shorter acquisition time, and dedicated cardiac reconstruction algorithms has opened new possibilities for chest imaging, integrating cardiac morphologic and even functional information within a diagnostic chest CT scan. The aim of this review is to briefly show and summarize the concept of integrated cardiothoracic imaging, which redefines the boundaries of chest CT imaging, opening the door to a new radiologic specialty.

Cardiac MR perfusion imaging: where we are.

To date, several clinical and multicentre studies have demonstrated the accuracy of perfusion cardiac magnetic resonance to detect ischaemia in comparison with quantitative coronary angiography, other noninvasive diagnostic techniques (single photon emission computed tomography; positron-emission tomography), and invasive haemodynamic measurements (fractional flow reserve). Moreover, the favourable safety profile and increasing availability contribute to make perfusion cardiac magnetic resonance one of the modalities of choice for the detection of myocardial ischaemia. Recently, the first evidence of the prognostic value of perfusion cardiac magnetic resonance results has also become available. This review summarises the technical and interpretation key points of perfusion cardiac magnetic resonance scan, the clinical indications, the most recent available literature about its diagnostic performance and prognostic value, and how perfusion cardiac magnetic resonance compares with other noninvasive techniques.

Dark blood versus bright blood T2 acquisition in cardiovascular magnetic resonance (CMR) for thalassaemia major (TM) patients: evaluation of feasibility, reproducibility and image quality.

OBJECTIVES: To compare the effectiveness of dark blood (DB) versus bright blood (BB) sequences. To assess the intra and inter-observer variability and inter-study reproducibility between BB versus DB. To evaluate image quality level in the two sequences. METHODS: In a setting of 138 patients we performed CMR using cardiac gated Gradient-multiecho single breath-hold BB and DB sequences in the middle ventricular septum. Each acquisition was repeated during the same exam. Truncation method was used to account for background noise. Image quality (IQ) was assessed using a 5 point grading scale and image analysis was conducted by 2 experienced observers. RESULTS: Compared with the conventional BB acquisition, the coefficient of correlation and significance of the DB technique was superior for intra-observer reproducibility (p<0.001), inter-observer reproducibility (p<0.001) and inter-study reproducibility (p<0.001). The variability is also lower for DB sequences for T2* values <14 ms. Assessment of artifacts showed a superior score for DB versus BB scans (4 versus 3, p<0.001). CONCLUSIONS: Improvement in terms of inter observer and inter study variability using DB sequences was obtained. The greatest disparity between them was seen in inter-study reproducibility and higher IQ in DB was seen. Study demonstrates better performance of DB imaging compared to BB in presence of comparable effectiveness.

Proximal aneurysmal neck: dynamic ECG-gated CT angiography--conformational pulsatile changes with possible consequences for endograft sizing.

PURPOSE: To assess the magnitude of variations in size of the proximal neck of the abdominal aortic aneurysm (AAA) in patients selected to undergo endovascular abdominal aortic aneurysm repair (EVAR) and the potential effect on choice of endograft diameter by using 64-section dynamic electrocardiographically (ECG)-gated computed tomographic (CT) angiography. MATERIALS AND METHODS: A prospective single-center study was performed in 40 patients with AAA who underwent both static and dynamic ECG-gated CT angiography. The ethical conduct of the study was approved by the departmental review board, and all patients provided written informed consent. Dynamic ECG-gated data sets were acquired with a low-dose acquisition protocol (100 kV) by using a 0.625-mm-section collimation (40 mL iomeprol [400 mg of iodine per milliliter] versus 80 mL). Pulsatility measurements were taken at suprarenal, juxtarenal, and infrarenal levels within the aneurysmal neck. Manual CT angiographic measurements were performed on modified axial images. On static axial images, one vascular surgeon and one interventional radiologist selected the diameter of the main body of the potential infrarenal stent-graft to implant. The diameter of the main body of the stent-graft selected was compared with the dynamic measurements obtained to calculate the potential relative oversizing performed. RESULTS: A total of 40 patients were enrolled. Significant aortic pulsatility was demonstrated within the aneurysmal neck (mean variation, 9.01% ± 4.81 [standard deviation]; absolute change, 1.83 mm ± 1.01; P < .05). When compared with dynamic measurements, the diameter of the endograft selected on the basis of static images would be potentially changed in 12 of 40 (30%) patients. Comparing the minimum or maximum diameter of the aneurysmal neck with the diameter of the endograft selected on the basis of static images, the relative oversizing performed was considered inadequate in seven of 40 (18%) patients. CONCLUSION: Dynamic ECG-gated CT may provide information in regard to pulsatile motion that could change the diameter of the endograft selected on the basis of static imaging measurements.

CT angiography in stent-graft sizing: impact of using inner vs. outer wall measurements of aortic neck diameters.

PURPOSE: To assess the impact of using inner wall vs. outer wall measurements on stent-graft sizing for endovascular repair of abdominal aortic aneurysm (AAA). METHODS: Preoperative static and electrocardiographically-gated 64-slice computed tomographic angiography (CTA) datasets were acquired on 40 consecutive AAA patients (29 men; mean age 78.9 ± 6 years, range 75-89). On static images, the aortic neck diameters were manually measured twice by 2 readers at 3 clinically relevant levels (supra-, juxta-, and infrarenal). The measurements were obtained from intima-to-intima (inner wall) and from adventitia-to-adventitia (outer wall). Dynamically reconstructed scans were also reviewed in each phase of the cardiac cycle to identify inner and outer minimum/maximum diameters. Using inner and outer wall measurements performed on static images, readers selected the size of a stent-graft that required inner neck diameter measurements and then one that required outer wall diameters. To calculate the relative oversizing, each selected stent-graft size was compared to that obtained using dynamic measurements. Oversizing <4% or >30% was considered inadequate. RESULTS: Mean variations for the inner and outer wall diameters of 9.75% ± 4.01% and 8.66% ± 3.71%, respectively, were recorded on static CTAs; the absolute changes in diameters were 1.82 ± 0.63 mm and 1.91 ± 0.64 mm, respectively. No statistically significant differences were found relative to aortic pulsatility at the 3 levels in the neck for the inner or outer wall diameters. Significant variability was seen between inner (mean 20.8 ± 3.4 mm) vs. outer (mean 23.7 ± 4.3 mm; p < 0.05) wall diameters. Stent-graft sizes significantly changed on the basis of the measurement method and device; for example, using the outer diameter to size a stent-graft that requires an inner diameter reference changed 36% of the selected stent-graft sizes, with ~20% being excessively oversized. Conversely, using the inner diameter to size an outer-diameter-based stent-graft resulted in nearly 40% of the sizes being altered. Based on dynamic measurements, the changes were more dramatic: the oversizing was considered excessive in up to 90% of patients if the measurement method did not match the stent-graft's stipulated reference. CONCLUSIONS: These data suggest that stent-graft sizing should follow the manufacturer's recommendations for using inner or outer diameter references based on dynamic patterns (mean value between diastolic and systolic diameters suggested).