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ObjectivesThis retrospective cohort study investigates outcomes of patients with intermediate-high and high-risk pulmonary embolism (PE) who were treated with transfemoral mechanical thrombectomy (MT) using the large-bore Inari FlowTriever aspiration catheter system.Material and MethodsTwenty-seven patients (mean age 56.1 ± 15.3 years) treated with MT for PE between 04/2021 and 11/2021 were reviewed. Risk stratification was performed according to European Society of Cardiology (ESC) guidelines. Clinical and hemodynamic characteristics before and after the procedure were compared with the paired Student’s t test, and duration of hospital stay was analyzed with the Kaplan–Meier estimator. Procedure-related adverse advents were assessed.ResultsOf 27 patients treated, 18 were classified as high risk. Mean right-to-left ventricular ratio on baseline CT was 1.7 ± 0.6. After MT, a statistically significant reduction in mean pulmonary artery pressures from 35.9 ± 9.6 to 26.1 ± 9.0 mmHg (p = 0.002) and heart rates from 109.4 ± 22.5 to 82.8 ± 13.8 beats per minute (p < 0.001) was achieved. Two patients died of prolonged cardiogenic shock. Three patients died of post-interventional complications of which a paradoxical embolism can be considered related to MT. One patient needed short cardiopulmonary resuscitation during the procedure due to clot displacement. Patients with PE as primary driver of clinical instability had a median intensive care unit (ICU) stay of 2 days (0.5–3.5 days). Patients who developed PE as a complication of an underlying medical condition spent 11 days (9.5–12.5 days) in the ICU.ConclusionIn this small study population of predominantly high-risk PE patients, large-bore MT without adjunctive thrombolysis was feasible with an acceptable procedure-related complication rate.

PurposeEvaluation of MR feasibility and real-time control of an innovative thermoablative applicator for intradiscal thermotherapy and histological analysis of laser annuloplasty in human ex vivo intervertebral discs.Materials and MethodsWe evaluated a new MR-compatible applicator system for MR-guided percutaneous intradiscal thermotherapy (MRgPIT) in an open 1.0-T MRI-system. Needle artefacts and contrast-to-noise ratios (CNR) of six interactive sequences (PD-, T1-, T2w TSE, T1-, T2w GRE, bSSFP) with varying echo-times (TE) and needle orientations to the main magnetic field (B0) were analysed. Additionally, five laser protocols (Nd: YAG Laser, 2–6 W) were assessed in 50 ex vivo human intervertebral discs with subsequent histological evaluation.ResultsIn vitro, we found optimal needle artefacts of 1.5–5 mm for the PDw TSE sequence in all angles of the applicator system to B0. A TE of 20 ms yielded the best CNR. Ex vivo, ablating with 5 W induced histological denaturation of collagen at the dorsal annulus, correlating with a rise in temperature to at least 60 °C. The MRgPIT procedure was feasible with an average intervention time of 17.1 ± 5.7 min.ConclusionReal-time MR-guided positioning of the MRgPIT-applicator in cadaveric intervertebral disc is feasible and precise using fast TSE sequence designs. Laser-induced denaturation of collagen in the dorsal annulus fibrosus proved to be accurate.

Objectives To compare the costs of CT- and MR-guided lumbosacral nerve root infiltration for minimally invasive treatment of low back pain and radicular pain. Methods Ninety patients (54 men, 36 women; mean age, 45.5 ± 12.8 years) underwent MR-guided single-site periradicular lumbosacral nerve root infiltration with 40 mg of triamcinolone acetonide. A further 91 patients (48 men, 43 women; mean age, 59.1 ± 13.8 years) were treated under CT fluoroscopy guidance. Prorated costs of equipment use (purchase, depreciation and maintenance), staff costs based on involvement times and expenditure for disposables were identified for MR- and CT-guided procedures. Results Mean intervention time was 20.6 min (14–30 min) for MR-guided and 14.3 min (7–32 min) for CT-guided treatment. The average total costs per patient were €177 for MR-guided and €88 for CT-guided interventions. These consisted of (MR/CT guidance) €93/29 for equipment use, €43/35 for staff and €41/24 for disposables. Conclusions Lumbosacral nerve root infiltration using MRI guidance is still about twice as expensive as infiltration using CT guidance. Given the advantages of no radiation exposure and possible future decrease in prices for MRI devices and MR-compatible injection needles, MR-guided nerve root infiltration may become a promising alternative to the CT-guided procedure. Key Points • MR - guided nerve root infiltration therapy is now technically and clinically established . • Costs using MRI guidance are still about double those for CT guidance . • MR guidance involves no radiation exposure to patients and personnel . • MR - guided nerve root infiltration may become a promising alternative to CT .

Objective To evaluate the feasibility of MR-guided discography using an open 1 Tesla MRI system. Methods 48 disc segments of 41 patients scheduled for intradiscal thermal treatment, total disc replacement or spondylodesis were examined. A 1.0-T open MRI was used for instrument guidance and imaging. After primary disc puncture under guidance of interactive PDw TSE imaging, 1–2 ml of gadolinium contrast saline mixture was injected into the disc. The occurrence of memory pain during injection was recorded. Axial and sagittal T1w TSE images with and without fat saturation were obtained. All MRI discograms were analysed by two readers, who were blinded to the clinical findings. Results Overall, the placement of the puncture needle in the targeted disc was accurate under real-time MR guidance. Injections were technically successful in all cases. No major complications occurred. The mean procedure time was 17 min (range 13–34 min). Image quality of contrast-enhanced MR discograms was excellent when using an optimized gadolinium contrast saline mixture of 1:600. Memory pain was detected in 16 out of 48 affected segments. Conclusion MR-guided discography is accurate and safe. Multiplanar dynamic imaging facilitates the puncture of discs and provides high-quality MR discograms.

Purpose To evaluate the feasibility and efficacy of image-guided periarterial ethanol injection as an alternative to transluminal radiofrequency ablation. Methods Unilateral renal periarterial ethanol injection was performed under general anesthesia in 6 pigs with the contralateral kidney serving as control. All interventions were performed in an open 1.0 T MRI system under real-time multiplanar guidance. The injected volume was 5 ml (95 % ethanol labelled marked MR contrast medium) in 2 pigs and 10 ml in 4 pigs. Four weeks after treatment, the pigs underwent MRI including MRA and were killed. Norepinephrine (NE) concentration in the renal parenchyma served as a surrogate parameter to analyze the efficacy of sympathetic denervation. In addition, the renal artery and sympathetic nerves were examined histologically to identify evidence of vascular and neural injury. Results In pigs treated with 10 ml ethanol, treatment resulted in neural degeneration. We found a significant reduction of NE concentration in the kidney parenchyma of 53 % ( p  < 0.02) compared with the untreated contralateral kidney. In pigs treated with 5 ml ethanol, no significant changes in histology or NE were observed. There was no evidence of renal arterial stenosis in MRI, macroscopy or histology in any pig. Conclusion MR-guided periarterial ethanol injection was feasible and efficient for renal sympathetic denervation in a swine model. This technique may be a promising alternative to the catheter-based approach in the treatment of resistant arterial hypertension.

Objective To prove that magnetic resonance imaging of foetal anatomy during the active second stage of vaginal delivery is feasible. Materials and methods Initially, five pregnant volunteers around the 30th week of gestation were examined in an open MRI. Based on the findings, one vaginal delivery was acquired under real-time imaging. To monitor the birth status during image acquisition, an MR-compatible wireless cardiotocography (CTG) system was built. Single-shot sequence parameters were optimised to compensate motion artefacts during labour. Results Safety requirements to monitor the birth process under real-time MR imaging were met. High-resolution MR images were acquired immediately before and after delivery. In one patient, TSE single-shot cinematic sequences of the active second stage of labour were obtained. All sequences were adapted to tolerate movement of the mother and infant, as well as residual noise from the CTG. Furthermore, the MR imaging during labour showed only minor image artefacts. Conclusion CTG-monitored acquisition of MRI series during the active second stage of delivery is feasible. Image quality should allow various further studies to improve models for birth simulation as well as potential investigation of obstructed labour and obstetric complications. Key Points • The active second stage of obstetric delivery can be followed by MRI. • Wireless cardiotocography allows monitoring of the foetus during MRI. • It has potential applications in evaluation of late obstetric problems.

Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia, developmental defects of the central nervous system (most commonly occipital encephalocele), hepatic ductal dysplasia and cysts and polydactyly 1 , 2 , 3 . MKS is genetically heterogeneous, with three loci mapped: MKS1 , 17q21-24 (ref. 4 ); MKS2 , 11q13 (ref. 5 ) and MKS3 (ref. 6 ). We have refined MKS3 mapping to a 12.67-Mb interval (8q21.13-q22.1) that is syntenic to the Wpk locus in rat, which is a model with polycystic kidney disease, agenesis of the corpus callosum and hydrocephalus 7 , 8 . Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67 , for which we identified pathogenic mutations for five MKS3 -linked consanguineous families. MKS3 is a previously uncharacterized, evolutionarily conserved gene that is expressed at moderate levels in fetal brain, liver and kidney but has widespread, low levels of expression. It encodes a 995–amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin.

We report a case of sirenomelia diagnosed at 13 gestational weeks. This rare malformation sequence is characterized by fusion and rotation of the lower limbs to various degrees and anorectal atresia, usually associated with absence of bladder and agenesis or dysgenesis of the kidneys. Diagnosis is commonly made later in the second trimester of pregnancy with oligohydramnios as the alerting sign. Survival is extremely rare, and only possible in the absence of bilateral renal agenesis. In view of the dismal prognosis, early diagnosis allows for earlier and less traumatic therapeutic abortion.

Disorders of post-squalene cholesterol biosynthesis are inborn errors of metabolism characterised by multiple congenital abnormalities, including significant skeletal involvement. The most frequent and best-characterised example is the Smith-Lemli-Opitz syndrome. Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis. This study provides an overview of the radiologic features observed in these diseases. A common pattern of limb abnormalities is recognisable, including polydactyly, which is typically post-axial and rarely interdigital and can involve all four limbs, and syndactyly of the toes. Chondrodysplasia punctata is specifically associated with a subgroup of disorders of cholesterol biosynthesis (Greenberg dysplasia, CHILD syndrome, X-linked dominant chondrodysplasia punctata, male emopamil-binding protein deficiency). The possible occurrence of epiphyseal stippling in the Smith-Lemli-Opitz syndrome, initially reported, does not appear to be confirmed. Stippling is also associated with other congenital disorders such as chromosomal abnormalities, brachytelephalangic chondrodysplasia punctata (X-linked recessive chondrodysplasia punctata, disruptions of vitamin K metabolism, maternal autoimmune diseases), rhizomelic chondrodysplasia punctata (peroxisomal disorders) and lysosomal storage disorders. In the differential diagnosis of epiphyseal stippling, a moth-eaten appearance of bones, asymmetry, or presence of a common pattern of limb abnormalities indicate inborn errors of cholesterol biosynthesis. We highlight the specific differentiating radiologic features of disorders of post-squalene cholesterol biosynthesis.