Fostering research in pediatric interventional radiology: needs assessment and suggestions for support.

BACKGROUND: Due to the rarity of pediatric diseases, collaborative research is the key to maximizing the impact of research studies. A research needs assessment survey was created to support initiatives to foster pediatric interventional radiology research. OBJECTIVE: To assess the status of pediatric interventional radiology research, identify perceived barriers, obtain community input on areas of research/education/support, and create metrics for evaluating changes/responses to programmatic initiatives. MATERIALS AND METHODS: A survey link was sent to approximately 275 members of the Society for Pediatric Interventional Radiology (SPIR) between May and October 2020. Data was collected using a web-based interface. Data collected included practice setting, clinical role, research experience, research barriers, and suggestions for future initiatives. RESULTS: Fifty-nine surveys were analyzed with a staff physician survey response rate of 28% (56/198). A wide range of practice sizes from 15 countries were represented. Respondents were predominantly staff physicians (95%; 56/59) with an average of 11 years (range: 1-25 years) of clinical experience working at academic or freestanding children's hospitals. A total of 100% (59/59) had research experience, and 70% (41/58) had published research with a mean of 30 peer-reviewed publications (range: 1-200). For job security, 56% (33/59) of respondents were expected or required to publish, but only 19% (11/58) had research support staff, and 42% (25/59) had protected research time, but of those, 36% (9/25) got the time "sometimes or never." Lack of support staff, established collaborative processes, and education were identified as top barriers to performing research. CONCLUSIONS: The needs assessment survey demonstrated active research output despite several identified barriers. There is a widespread interest within the pediatric interventional radiology community for collaborative research.

European expert recommendations on clinical investigation and evaluation of high-risk medical devices for children.

Several high-risk medical devices for children have become unavailable in the European Union (EU), since requirements and costs for device certification increased markedly due to the EU Medical Device Regulation. The EU-funded CORE-MD project held a workshop in January 2023 with experts from various child health specialties, representatives of European paediatric associations, a regulatory authority and the European Commission Directorate General Health and Food Safety. A virtual follow-up meeting took place in March 2023. We developed recommendations for investigation of high-risk medical devices for children building on participants' expertise and results of a scoping review of clinical trials on high-risk medical devices in children. Approaches for evaluating and certifying high-risk medical devices for market introduction are proposed.

Shockwaves and the Rolling Stones: An Overview of Pediatric Stone Disease.

Urinary stone disease is a common problem in adults, with an estimated 10% to 20% lifetime risk of developing a stone and an annual incidence of almost 1%. In contrast, in children, even though the incidence appears to be increasing, urinary tract stones are a rare problem, with an estimated incidence of approximately 5 to 36 per 100,000 children. Consequently, typical complications of rare diseases, such as delayed diagnosis, lack of awareness, and specialist knowledge, as well as difficulties accessing specific treatments also affect children with stone disease. Indeed, because stone disease is such a common problem in adults, frequently, it is adult practitioners who will first be asked to manage affected children. Yet, there are unique aspects to pediatric urolithiasis such that treatment practices common in adults cannot necessarily be transferred to children. Here, we review the epidemiology, etiology, presentation, investigation, and management of pediatric stone disease; we highlight those aspects that separate its management from that in adults and make a case for a specialized, multidisciplinary approach to pediatric stone disease.

Evidence of Chemoresponsiveness in Unresectable Metastatic Angiomatoid Fibrous Histiocytoma.

Angiomatoid fibrous histiocytoma (AFH) is a soft tissue neoplasm of intermediate biological potential. Typically a slow-growing tumor, it can recur locally. Rarely, it manifests as a soft tissue sarcoma capable of metastasis. When metastases are nonamenable to local therapy, it is believed uniformly fatal. We present 3 patients with metastatic AFH who demonstrated a sustained response to chemotherapy; including one who achieved complete remission with cryoablation. These cases reinforce the potential value of chemotherapy in some patients with unresectable metastatic AFH and provide the first case in the literature of cryoablation in AFH.

Vascular anomalies: special considerations in children.

The diagnosis and treatment of vascular anomalies are a large part of the caseload for paediatric interventional radiologists. Although many of the principles of sclerotherapy and embolisation are the same in adult and paediatric practice, there are some key differences in the approach for children, including some longer term thinking about managing these chronic diseases and their impact on a growing child. Vascular tumours are not often seen in adult IR practice and the rarest can be life threatening; knowledge of the commonest types and the role IR can play in their management can be instrumental in ensuring that children get appropriate treatment in a timely manner. Vascular anomalies also encompass some conditions associated with complex overgrowth, a subject that often causes confusion and uncertainty for interventional radiologists. This paper presents a simplified and practical approach to this spectrum of disease.

Cystoscopic injection sclerotherapy for bladder venous malformations.

Vascular malformations of the urinary bladder are rare in children and their management can be challenging. This minimally invasive approach was first described by the authors in lead 2013 and demonstrated that cystoscopic injections were safe without breech into the peritoneal cavity [1]. Cystoscopic injection sclerotherapy can be very successful in managing the complications of bladder vascular malformations and thereby avoiding extensive surgery. This VideoBank article demonstrates the technique of cystoscopic sclerotherapy for the management of bladder venous malformations.

Splenic Rupture Secondary to Vascular Ehlers-Danlos Syndrome Managed by Coil Embolization of the Splenic Artery.

Aim Atraumatic splenic rupture is uncommon and life-threatening. It may be related to underlying pathology and be the initial manifestation of the condition. Vascular Ehlers-Danlos syndrome (V-EDS) is a rare autosomal dominant collagen vascular disorder, associated with vessel fragility and rupture. We describe a child presenting with splenic rupture managed by embolization of the splenic artery. She was subsequently diagnosed with V-EDS. Case Description A 11-year-old girl with thalassemia trait presented with sudden onset of abdominal pain and hypovolemic shock. There was no history of trauma. Following resuscitation, abdominal computed tomography showed hemoperitoneum and active splenic arterial extravasation. Angiography demonstrated four bleeding points, from irregular vessels supplying the upper two-thirds of the spleen. These were not amenable to supraselective embolization. Therefore, coil embolization of the main splenic artery was performed, with no splenic supply seen on the postembolization angiogram. Her postoperative recovery was complicated by pancreatitis secondary to partial ischemia of the pancreatic tail. Subsequent extensive investigations excluded hematological, myeloproliferative, and infective causes for her splenic rupture. A safeguarding investigation was completed, with no pertinent factors identified. Findings of thin skin, abnormal bruising, and hypermobile joints raised a clinical suspicion of a connective tissue disorder. Genetic testing revealed a de novo mutation of the COL3A1 gene. Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization.

Diagnostic yield and safety of ultrasound-guided bowel mass biopsies in children.

BACKGROUND: Traditionally, ultrasound (US)-guided bowel mass biopsies are avoided in favour of endoscopic or surgical biopsies. However, endoscopy cannot easily reach lesions between the duodenojejunal flexure and the terminal ileum and lesions not involving the mucosa may not be accessible via an endoscopic route. OBJECTIVE: The aim of this study was to report our technique and to assess the diagnostic accuracy and safety of US-guided biopsy of bowel masses in children. MATERIALS AND METHODS: We conducted a 14-year retrospective review of US-guided bowel mass biopsies at a single paediatric hospital. RESULTS: Twenty US-guided bowel mass biopsies were performed in 19 patients (median age: 6 years and 6 months, range: 22 months-17 years, median weight: 22 kg, range: 10.2-48.4 kg). For 14 biopsies, there was no other lesion that could potentially be biopsied. A percutaneous coaxial technique was used for 19 biopsies and a transanal non-coaxial biopsy was performed in 1. A median of 9 (range: 2-15) cores of tissue was obtained at each biopsy. The technical success rate and adequacy of diagnostic yield were 100%. The most common diagnosis was lymphoma, which occurred in 16 biopsies. Three biopsies contained mucosa. There was one complication out of 20 biopsies (5%, 95% confidence interval 0-15%): a self-limiting, post biopsy pyrexia. Nineteen procedures were accompanied by a bone marrow aspirate and/or trephine within 2 weeks of the bowel biopsy, only one of which was diagnostic. CONCLUSION: US-guided bowel mass biopsy can be performed safely in children, with a high diagnostic yield and low complication rate.

Challenges and Opportunities for Continued Success and Growth of Pediatric Interventional Radiology: A Communiqué From the Society for Pediatric Interventional Radiology.

OBJECTIVE: Pediatric interventional radiology (PIR) is a dynamic and growing subspecialty. We will detail our need to evolve like the emerging therapies and innovative imaging options that we provide to children. CONCLUSION: New interventional radiology training pathways, maintaining competency with small volumes of complex procedures, limited availability of pediatric-specific equipment, questions about the safety of sedation in the developing brain, and the dearth of PIR opportunities outside of North America provide challenges and opportunities for the vibrant community of PIR practitioners.

Surgical jejunostomy and radiological gastro-jejunostomy tube feeding in children: risks, benefits and nutritional outcomes.

PURPOSE: Radiologically inserted gastrojejunal tubes (RGJ) and surgical jejunostomy (SJ) are established modes of jejunal feeding. The aim of the study is to review nutritional outcomes, complications and the practical consideration to enable patients and carers to make informed choice. METHODS: Retrospective review of patient notes with a RGJ or SJ in 2010, with detailed follow-up and review of the literature. RESULTS: Both RGJ and SJ are reliable modes to provide stable enteral nutrition. Both have complications and their own associated limitations. CONCLUSIONS: The choice has to be tailored to the individual patient, the social care available, the inherent medical disease and risk/benefit of repeated anaesthetic and radiation exposure. RGJ and SJ are important tools for nutritional management that achieve and maintain growth in a complex group of children. The risk and benefits should be reviewed for each individual patient.

Quality and readability of online patient information regarding sclerotherapy for venous malformations.

BACKGROUND: Patients often use the internet as a source of information about their condition and treatments. However, this information is unregulated and varies in quality. OBJECTIVE: To evaluate the readability and quality of online information for pediatric and adult patients and caregivers regarding sclerotherapy for venous malformations. MATERIALS AND METHODS: "Venous malformation sclerotherapy" was entered into Google, and results were reviewed until 20 sites that satisfied predefined inclusion criteria were identified. Scientific and non-patient-focused web pages were excluded. Readability was assessed using the Flesch Reading Ease Score and American Medical Association reading difficulty recommendations and quality was assessed using Journal of the American Medical Association standards and assessing if the site displayed HONcode (Health on the Net Code) certification. Assessment of the breadth of relevant information was made using a predefined checklist. RESULTS: Forty-nine search engine results were reviewed before 20 sites were identified for analysis. Average Flesch Reading Ease Score was 44 (range: 24.2-70.1), representing a "fairly difficult" reading level. None of the sites had a Flesch Reading Ease Score meeting the American Medical Association recommendation of 80-90. Only one site met all four Journal of the American Medical Association quality criteria (average: 2.1). None of the sites displayed a HONcode seal. The information most frequently found was: sclerotherapy is performed by radiologists, multiple treatments may be needed and surgery is an alternative treatment. CONCLUSION: Online information regarding sclerotherapy for venous malformations is heterogeneous in quality and breadth of information, and does not meet readability recommendations for patient information. Radiologists should be aware of and account for this when meeting patients.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM). METHODS: To investigate the pathogenesis of sporadic intracranial and extracranial VMs in 160 children in which known genetic causes had been excluded, we sequenced DNA from affected tissue and optimized analysis for detection of low mutant allele frequency. RESULTS: We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in cancer and responsible for the germline RAS-opathies. These variants were more frequent in high-flow than low-flow VMs. In vitro characterization and 2 transgenic zebrafish AVM models that recapitulated the human phenotype validated the pathogenesis of the mutant alleles. Importantly, treatment of AVM-BRAF mutant zebrafish with the BRAF inhibitor vemurafinib restored blood flow in AVM. CONCLUSION: Our findings uncover a major cause of sporadic VMs of different clinical types and thereby offer the potential of personalized medical treatment by repurposing existing licensed cancer therapies. FUNDING: This work was funded or supported by grants from the AVM Butterfly Charity, the Wellcome Trust (UK), the Medical Research Council (UK), the UK National Institute for Health Research, the L'Oreal-Melanoma Research Alliance, the European Research Council, and the National Human Genome Research Institute (US).

Endovenous laser ablation therapy in children: applications and outcomes.

BACKGROUND: Endovenous laser ablation is well recognized as the first-line treatment for superficial venous reflux with varicose veins in adults. It is not widely reported and is not an established practice in pediatric patients. OBJECTIVE: To illustrate a variety of pediatric venous conditions in which endovenous laser ablation can be utilized and to demonstrate its feasibility and safety in children. MATERIALS AND METHODS: We conducted a retrospective review of endovenous laser ablation procedures performed between January 2007 and July 2014 at two large pediatric institutions. RESULTS: We included 35 patients (17 males) who underwent endovenous laser ablation to 43 veins. Median age at first treatment was 14 years (range: 3-18 years). Median weight was 56 kg (range: 19-97 kg). Underlying diagnoses were common venous malformation (15), Klippel-Trenaunay syndrome (8), superficial venous reflux with varicose veins (5), verrucous hemangioma-related phlebectasia (4), venous varix (2) and arteriovenous fistula (1). The most common aim of treatment was to facilitate sclerotherapy. Thirty-four patients had treatment in the lower limbs and one patient in an upper limb. Ten of the veins treated with endovenous laser ablation had an additional procedure performed to close the vein. Complications attributable to endovenous laser ablation occurred in two patients (6%). One patient experienced post-procedural pain and one patient developed a temporary sensory nerve injury. Median clinical follow-up was 13 months (range: 28 days-5.7 years). The aim of the treatment was achieved in 29 of the 35 (83%) patients. CONCLUSION: Endovenous laser ablation is technically feasible and safe in children. It can be used in the management of a range of pediatric venous diseases with good outcomes.