Bernhard Petritsch

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

Objectives The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. Setting and participants In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included. Primary and secondary outcome measures Cardiac, nephrological, neurological, laboratory and quality of life data. Results AgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m2; LV global longitudinal strain −21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter. Conclusions The results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD.

Vertebral Compression Fractures: Third-Generation Dual-Energy CT for Detection of Bone Marrow Edema at Visual and Quantitative Analyses

Purpose To assess the diagnostic performance of a third-generation dual-energy computed tomographic (CT) virtual noncalcium (VNCa) technique for detection of traumatic bone marrow edema in patients with vertebral compression fractures. Materials and Methods This prospective study was approved by the institutional review board. Informed consent was obtained from all participants. Twenty-two consecutive patients with 37 morphologic vertebral fractures were studied between October 2015 and May 2016. All patients underwent dual-energy CT (90 kV and 150 kV with a tin filter) and 3-T magnetic resonance (MR) imaging. Two independent readers visually evaluated all vertebral bodies (n = 163) for the presence of abnormal bone marrow attenuation on VNCa images by using color-coded maps and performed a quantitative analysis of CT numbers on VNCa images. MR images served as the reference standard. CT numbers were subjected to receiver operating characteristic analysis to calculate cutoff values. Results In the visual analysis, VNCa images had an overall sensitivity of 64.0%, specificity of 99.3%, accuracy of 93.9%, positive predictive value of 94.1%, and negative predictive value of 93.8%. The interobserver agreement was excellent (κ = 0.85). CT numbers obtained from VNCa images were significantly different in vertebral bodies with and without edema (P < .001). Receiver operating characteristic analysis revealed an area under the curve of 0.922. A cutoff value of -47 provided sensitivity of 92.0%, specificity of 82.6%, accuracy of 84.0%, positive predictive value of 48.9%, and negative predictive value of 98.3% for the differentiation of edematous vertebral bodies. Conclusion Visual and quantitative analyses of dual-energy VNCa images showed excellent diagnostic performance for assessing traumatic bone marrow edema in vertebral compression fractures.

Identification of Risk Factors for Catheter-Related Thrombosis in Patients with Totally Implantable Venous Access Ports in the Forearm:

Purpose To identify risk factors for the development of catheter-related thrombosis (CRT) in patients with totally implant-able venous access ports (TIVAP) in the forearm, and to analyze the effect of prophylaxis and treatment. Methods We retrospectively identified 200 patients (94 men, 106 women, mean age 57.7 +/-14 y) with TIVAP implantation in the forearm between 3/2010 and 11/2010. Type, number of punctures and sonographically defined diameter of the accessed vein were analyzed. Chemotherapy administered prior to the implantation procedure and history of thrombo-embolic events were assessed. Thrombo-embolic prophylaxis (TEP) following port implantation and treatment as well as course of CRT were analyzed. Results Twenty-one patients (10.5%) were diagnosed with CRT. Accessed vessels and mean diameter were basilic (n=150, 3.7 mm), brachial (n=39, 3.5 mm) and cephalic (n=11, 3.5 mm) vein. Neither type nor vessel diameter had effect on CRT development (P>.05). Implantation in the left forearm resulted in a significantly higher rate of CRT (P=.04). Ninety-five patients (47.5%) received chemotherapy and 30 patients (15.0%) had a history of thrombosis prior to implantation; both had no effect on development of CRT. Low molecular weight heparin (LMWH) was prescribed in 94/200 patients (47.0%) and had no effect on development of CRT (P>.05). Therapeutic anticoagulation with LMWH resulted in clinical improvement in 12/21 patients (57.4%). Conclusions TIVAPs of the forearm may be associated with a certain rate of early and late CRT. The simplest vein to puncture should be selected for vascular access. Thrombo-embolic prophylaxis appears to be rather ineffective for prevention of CRT.

Endovascular Treatment of Acute Limb Ischemia Secondary to Fracture of a Popliteal Artery Stent

The authors report the case of a patient with acute lower limb ischemia (category IIa) after occlusion of the popliteal artery due to fracture of a long indwelling stent. The patient refused surgical therapy for religious reasons, and an interventional revascularization was performed as acute rescue therapy. After reentry into the distal popliteal artery was achieved, the artery was dilated, and the fragmented stent was crushed, followed by implantation of two helical nitinol stents with high radial force and a third self-expandable nitinol stent. Sufficient primary technical success was achieved, and stent patency was present at midterm follow-up.

Non-invasive Determination of Myocardial Lipid Content in Fabry Disease by 1H-MR Spectroscopy

PURPOSE In Fabry disease (FD), a progressive deposition of sphingolipids is reported in different organs. The present study applied 1H magnetic resonance spectroscopy (MRS) to investigate the myocardial lipid content in FD. MATERIALS AND METHODS In patients (PTS, n = 15) with genetically proven FD, 1H MRS of the heart was acquired in the same examination as routine cardiac cine and late enhancement MR imaging. Healthy volunteers (n = 11) without history of cardiac disease served as control (CTL). Myocardial triglycerides in vivo were quantified in 1H MRS. Left ventricular (LV) ejection fraction (EF) and late enhancement were assessed for the determination of LV systolic function, and onset or absence of myocardial fibrosis. RESULTS All 1H MRS revealed resonances for intramyocardial triglycerides. Clinical parameters, e.g. EF (PTS 64 ± 2 % vs. CTL 61 ± 1 %) were similar in PTS and CTL or showed a non-significant trend (LV mass). Apart from a single patient with elevated myocardial triglycerides, no significant impact of Fabry disease on the triglyceride/water resonance ratio (PTS 0.47 ± 0.11 vs. CTL 0.52 ± 0.11 %) was observed in our patient cohort. CONCLUSION A comprehensive cardiac evaluation of morphology, function as well as metabolism in Fabry PTS with suspected cardiac involvement is feasible in a single examination. No significant effect of myocardial triglyceride deposition could be observed in patients. The remarkably high myocardial triglyceride content in one patient with advanced FD warrants further studies in PTS with an extended history of the disease.

Extensive craniocervical bone pneumatization.

We report a case of extensive abnormal craniocervical bone pneumatization accidentally found in a patient without any history of trauma or surgery. The patient had only mild unspecific thoracic pain and bilateral paresthesia that did not correlate with computed tomography findings.

Multiple Myeloma and Dual-Energy CT: Diagnostic Accuracy of Virtual Noncalcium Technique for Detection of Bone Marrow Infiltration of the Spine and Pelvis

Purpose To determine the diagnostic performance of dual-energy computed tomography (CT) for detection of bone marrow (BM) infiltration in patients with multiple myeloma by using a virtual noncalcium (VNCa) technique. Materials and Methods In this prospective study, 34 consecutive patients with multiple myeloma or monoclonal gammopathy of unknown significance sequentially underwent dual-energy CT and magnetic resonance (MR) imaging of the axial skeleton. Two independent readers visually evaluated standard CT and color-coded VNCa images for the presence of BM involvement. MR imaging served as the reference standard. Analysis on the basis of the region of interest (ROI) of VNCa CT numbers of infiltrated (n = 75) and normal (n = 170) BM was performed and CT numbers were subjected to receiver operating characteristic analysis to calculate cutoff values. Results In the visual analysis, VNCa images had an overall sensitivity of 91.3% (21 of 23), specificity of 90.9% (10 of 11), accuracy of 91.2% (31 of 34), positive predictive value of 95.5% (21 of 22), and a negative predictive value of 83.3% (10 of 12). ROI-based analysis of VNCa CT numbers showed a significant difference between infiltrated and normal BM (P < .001). Receiver operating characteristic analysis revealed an area under the curve of 0.978. A cutoff of -44.9 HU provided a sensitivity of 93.3% (70 of 75), specificity of 92.4% (157 of 170), accuracy of 92.7% (227 of 245), positive predictive value of 84.3% (70 of 83), and negative predictive value of 96.9% (157 of 162) for the detection of BM infiltration. Conclusion Visual and ROI-based analyses of dual-energy VNCa images had excellent diagnostic performance for assessing BM infiltration in patients with multiple myeloma with precision comparable to that of MR imaging.

Partial Segmental Thrombosis of the Corpus Cavernosum (PSTCC) diagnosed by contrast-enhanced ultrasound: a case report

BackgroundPartial segmental thrombosis of the corpus cavernosum (PSTCC) is a rare disease predominantly occurring in young men. Cardinal symptoms are pain and perineal swelling. Although several risk factors are described in the literature, the exact etiology of penile thrombosis remains unclear in most cases. MRI or ultrasound (US) is usually used for diagnosing this condition.Case presentationWe report a case of penile thrombosis after left-sided varicocele ligature in a young patient. The diagnosis was established using contrast-enhanced ultrasound (CEUS) and was confirmed by contrast-enhanced magnetic resonance imaging (ceMRI). Successful conservative treatment consisted of systemic anticoagulation using low molecular weight heparin and acetylsalicylic acid.ConclusionPSTCC is a rare condition in young men and appears with massive pain and perineal swelling. In case of suspected PSTCC utilization of CEUS may be of diagnostic benefit.

Diagnosis of Pulmonary Artery Embolism: Comparison of Single-Source CT and 3rd Generation Dual-Source CT using a Dual-Energy Protocol Regarding Image Quality and Radiation Dose

Purpose To compare radiation dose, subjective and objective image quality of 3 rd generation dual-source CT (DSCT) and dual-energy CT (DECT) with conventional 64-slice single-source CT (SSCT) for pulmonary CTA. Materials and Methods 180 pulmonary CTA studies were performed in three patient cohorts of 60 patients each. Group 1: conventional SSCT 120 kV (ref.); group 2: single-energy DSCT 100 kV (ref.); group 3: DECT 90/Sn150 kV. CTDIvol, DLP, effective radiation dose were reported, and CT attenuation (HU) was measured on three central and peripheral levels. The signal-to-noise-ratio (SNR) and contrast-to-noise-ratio (CNR) were calculated. Two readers assessed subjective image quality according to a five-point scale. Results Mean CTDIvol and DLP were significantly lower in the dual-energy group compared to the SSCT group (p < 0.001 [CTDIvol]; p < 0.001 [DLP]) and the DSCT group (p = 0.003 [CTDIvol]; p = 0.003 [DLP]), respectively. The effective dose in the DECT group was 2.79 ± 0.95 mSv and significantly smaller than in the SSCT group (4.60 ± 1.68 mSv, p < 0.001) and the DSCT group (4.24 ± 2.69 mSv, p = 0.003). The SNR and CNR were significantly higher in the DSCT group (p < 0.001). Subjective image quality did not differ significantly among the three protocols and was rated good to excellent in 75 % (135/180) of cases with an inter-observer agreement of 80 %. Conclusion Dual-energy pulmonary CTA protocols of 3 rd generation dual-source scanners allow for significant reduction of radiation dose while providing excellent image quality and potential additional information by means of perfusion maps. Key Points: · Dual-energy CT with 90/Sn150 kV configuration allows for significant dose reduction in pulmonary CTA.. · Subjective image quality was similar among the three evaluated CT-protocols (64-slice SSCT, single-energy DSCT, 90/Sn150 kV DECT) and was rated good to excellent in 75% of cases.. · Dual-energy CT provides potential additional information by means of iodine distribution maps.. Citation Format · Petritsch B, Kosmala A, Gassenmaier T et al. Diagnosis of Pulmonary Artery Embolism: Comparison of Single-Source CT and 3rd Generation Dual-Source CT using a Dual-Energy Protocol Regarding Image Quality and Radiation Dose. Fortschr Röntgenstr 2017; 189: 527 - 536.

Acute thromboembolic occlusion of the superior mesenteric artery following covered stent occlusion in the superior mesenteric artery: endovascular therapy using mechanical rotational thrombectomy

Acute thromboembolic occlusion of the superior mesenteric artery is a rare and often fatal condition in which surgery represents the golden standard in therapy. We present a case in which a patient was treated with covered stent implantation for acute bleeding from the superior mesenteric artery following pancreatic resection, radiation, and embolization of a hepatic artery pseudoaneurysm. Some weeks later clinical signs were suggestive of acute thromboembolic occlusion of the superior mesenteric artery and digital subtraction angiography showed occlusion of the previously implanted covered stents. The patient was successfully treated transfemorally with percutaneous mechanical instent thrombectomy using a 6F Rotarex® catheter. We conclude that in selected cases percutaneous mechanical thrombectomy may represent a minimally-invasive alternative to open surgical thrombectomy for treatment of acute thromboembolic occlusion of the superior mesenteric artery.