Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes, by taking part in vesicle and mitochondrial fusion and fission or signal transduction. Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).

Normal pediatric postmortem CT appearances.

Postmortem radiology is a rapidly developing specialty that is increasingly used as an adjunct to or substitute for conventional autopsy. The goal is to find patterns of disease and possibly the cause of death. Postmortem CT images bring to light processes of decomposition most radiologists are unfamiliar with. These postmortem changes, such as the formation of gas and edema, should not be mistaken for pathological processes that occur in living persons. In this review we discuss the normal postmortem thoraco-abdominal changes and how these appear on CT images, as well as how to differentiate these findings from those of pathological processes.

Evaluation of a robotic technique for transrectal MRI-guided prostate biopsies.

OBJECTIVES: To evaluate the accuracy and speed of a novel robotic technique as an aid to perform magnetic resonance image (MRI)-guided prostate biopsies on patients with cancer suspicious regions. METHODS: A pneumatic controlled MR-compatible manipulator with 5 degrees of freedom was developed in-house to guide biopsies under real-time imaging. From 13 consecutive biopsy procedures, the targeting error, biopsy error and target displacement were calculated to evaluate the accuracy. The time was recorded to evaluate manipulation and procedure time. RESULTS: The robotic and manual techniques demonstrated comparable results regarding mean targeting error (5.7 vs 5.8 mm, respectively) and mean target displacement (6.6 vs 6.0 mm, respectively). The mean biopsy error was larger (6.5 vs 4.4 mm) when using the robotic technique, although not significant. Mean procedure and manipulation time were 76 min and 6 min, respectively using the robotic technique and 61 and 8 min with the manual technique. CONCLUSIONS: Although comparable results regarding accuracy and speed were found, the extended technical effort of the robotic technique make the manual technique - currently - more suitable to perform MRI-guided biopsies. Furthermore, this study provided a better insight in displacement of the target during in vivo biopsy procedures.

Necessity of life-long follow-up after surgery for coarctation of the aorta: a case series of very late false aneurysm formation.

BACKGROUND: Coarctation of the aorta accounts for 5-7% of congenital defects of the heart and great vessels. It requires treatment in the form of open surgical or percutaneous repair. Common long-term complications include re-stenosis and aneurysm formation. The formation of a false aneurysm is a complication with a significant morbidity and mortality. CASE SUMMARY: We reviewed six cases of late false aneurysm after repair of a coarctation of the aorta. Our six cases developed a false aneurysm after an open surgical repair of a coarctation more than 30 years after initial surgical repair. All aneurysms were located at the aortic repair site. DISCUSSION: The symptoms or risk factors in the described cases are not uniform and are difficult to include in a general follow-up protocol. Guidelines recommend frequent evaluation, but do not specify duration or intervals of imaging follow-up. Our cases support the necessity of life-long follow-up in patients with open aortic repairs irrespective of symptomatology.

Feasibility of a pneumatically actuated MR-compatible robot for transrectal prostate biopsy guidance.

PURPOSE: To assess the feasibility of using a remote-controlled, pneumatically actuated magnetic resonance (MR)-compatible robotic device to aid transrectal biopsy of the prostate performed with real-time 3-T MR imaging guidance. MATERIALS AND METHODS: This prospective study was approved by the ethics review board, and written informed consent was obtained from all patients. Twelve consecutive men who were clinically suspected of having prostate cancer and had a history of at least one transrectal ultrasonography (US)-guided prostate biopsy with negative results underwent diagnostic multiparametric MR imaging of the prostate. Two radiologists in consensus identified cancer-suspicious regions (CSRs) in 10 patients. These regions were subsequently targeted with the robot for MR imaging-guided prostate biopsy. To direct the needle guide toward the CSRs, the MR-compatible robotic device was remote controlled at the MR console by means of a controller and a graphical user interface for real-time MR imaging guidance of the needle guide. The ability to reach the CSRs with the robot for biopsy was analyzed. RESULTS: A total of 17 CSRs were detected in 10 patients at the diagnostic MR examinations. These regions were targeted for MR imaging-guided robot-assisted prostate biopsy. Thirteen (76%) of the 17 CSRs could be reached with the robot for biopsy. Biopsy of the remaining four CSRs was performed without use of the robot. CONCLUSION: It is feasible to perform transrectal prostate biopsy with real-time 3-T MR imaging guidance with the aid of a remote-controlled, pneumatically actuated MR-compatible robotic device.

The accuracy and safety aspects of a novel robotic needle guide manipulator to perform transrectal prostate biopsies.

PURPOSE: To introduce a new in-house developed pneumatically controlled magnetic field compatible manipulator as an aid to perform magnetic resonance (MR)-guided biopsies of the prostate. METHODS: A pneumatic controlled manipulator with five degrees of freedom constructed of plastic to achieve magnetic field compatibility was developed to guide biopsies. A risk analysis, mechanical tests, and RF safety tests with respect to needle tip heating were performed to assure future patient safety and to meet standard safety requirements for the use in a medical environment. The accuracy of needle positioning with the needle guide manipulator to sample a predefined target was measured in agar phantoms on a 3 T whole body MR system. The in-plane error was used to evaluate the accuracy, which is defined as the orthogonal distance between target and biopsy needle. The time for each step in the biopsy procedure was recorded to evaluate the procedure time. The influence of the insertion angle with respect to the static field of the MR scanner on the needle artifact was investigated. RESULTS: The risk analyses met patient safety requirements. No RF induced local heating around the needle tip was observed. The average in-plane error in 19 measurements was 3.0 mm (range 0-5.6 mm). The average time needed for manipulation to place the needle guide in the desired position was 5 min (range 3-8 min). Total procedure time was 30 min. The needle artifact size increases with the insertion angle with respect to the static field of the MR scanner. CONCLUSIONS: The new MR compatible manipulator can be used safely for patient care. It showed a high accuracy and short total procedure time, demonstrating great potential to improve the transrectal prostate biopsy procedure.

Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rarely diagnosed in childhood. We describe the case of a 9-year-old girl with genetically confirmed ARVC who presented with syncope, ventricular arrhythmia, and biventricular myocardial dysfunction. This case highlights the need for development of pediatric ARVC diagnosis criteria specific for pediatric patients and discusses potential diagnostic improvement using echocardiographic deformation imaging. (Level of Difficulty: Beginner.).

Incidence and predictors of vascular complications in transaxillary TAVI.

AIMS: Vascular complications are among the most commonly observed complications after TAVI. Iliofemoral vascular outcome has been described extensively. Little is known about vascular complications in transaxillary TAVI. The aim of the current study was to describe the incidence and predictors of axillary artery complications incorporating computed tomography angiography (CTA) measurements. METHODS AND RESULTS: CT analysis was performed in two hundred patients treated with transaxillary TAVI in our centre between January 2014 and December 2017. Vascular complications occurred in 37 (18.5%) patients. Patient characteristics predicting this outcome were female gender (aOR 3.88 [1.48-10.14], p=0.006) and age (aOR 1.08 [1.01-1.16], p=0.034). The CTA measurement predicting vascular complications was a sheath to artery area ratio (SAAR) equal to or larger than 1.63 (OR 3.95 [1.29-12.12], p=0.016). CONCLUSIONS: The present study describes the incidence of axillary artery complications and identifies patient characteristics associated with this outcome. CTA analysis was shown to be an important screening tool in the assessment of patient (access) eligibility. Axillary artery dimensional screening should be based on vascular luminal area assessment rather than diameter measurement alone.

Comparing thoracoabdominal injuries of manual versus load-distributing band cardiopulmonary resuscitation.

OBJECTIVE: To identify and compare manual and load-distributing band (LDB) cardiopulmonary resuscitation (CPR)-related injuries. METHODS: Retrospective observational cohort study. Adult, nontraumatic deaths with a postmortem computed tomography scan (PMCT) performed were classified into two groups: deceased after LDB CPR or after manual CPR. PMCT scans were reviewed for thoracoabdominal injuries such as fractures, pneumothorax and hemorrhage. The injuries between groups were compared. RESULTS: LDB CPR (n = 43) showed increased incidences of posterior rib fractures (53 vs 18%, P = 0.006), pneumothorax (23 vs 4%, P = 0.04) and more pericardial fluid (median 12 vs 6 mm, P = 0.002) compared with manual CPR (n = 29). Multivariable regression analysis revealed that LDB CPR was significantly associated with posterior rib fractures [odds ratio (OR) 5.37, 95% confidence interval (CI): 1.44-20.09, P = 0.01). Pneumothorax (OR 6.80, 95% CI: 0.73-62.99, P = 0.09) and the amount of pericardial fluid (OR 3.40, 95% CI: 0.20-56.32) were not significantly associated with LDB CPR. No significant difference was found for anterolateral rib fractures, sternal fractures, vertebral fractures, pleural fluid, hemothorax, hemopericardium, pneumoperitoneum, perihepatic, perisplenic and perirenal hemorrhage. CONCLUSION: Rib fractures, sternal fractures, hemothorax and hemopericardium are common CPR-related injuries. LDB CPR is significantly associated with more posterior rib fractures and a trend toward more pneumothoraces is observed when compared with manual CPR. This knowledge is important for caretakers in the case of ongoing CPR, as a pneumothorax may attribute to not achieving persistent return of spontaneous circulation, and to improve postresuscitation care of survivors.

Comparing algorithms for automated vessel segmentation in computed tomography scans of the lung: the VESSEL12 study.

The VESSEL12 (VESsel SEgmentation in the Lung) challenge objectively compares the performance of different algorithms to identify vessels in thoracic computed tomography (CT) scans. Vessel segmentation is fundamental in computer aided processing of data generated by 3D imaging modalities. As manual vessel segmentation is prohibitively time consuming, any real world application requires some form of automation. Several approaches exist for automated vessel segmentation, but judging their relative merits is difficult due to a lack of standardized evaluation. We present an annotated reference dataset containing 20 CT scans and propose nine categories to perform a comprehensive evaluation of vessel segmentation algorithms from both academia and industry. Twenty algorithms participated in the VESSEL12 challenge, held at International Symposium on Biomedical Imaging (ISBI) 2012. All results have been published at the VESSEL12 website http://vessel12.grand-challenge.org. The challenge remains ongoing and open to new participants. Our three contributions are: (1) an annotated reference dataset available online for evaluation of new algorithms; (2) a quantitative scoring system for objective comparison of algorithms; and (3) performance analysis of the strengths and weaknesses of the various vessel segmentation methods in the presence of various lung diseases.