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1.
Pediatr Blood Cancer ; 71(4): e30887, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38291721

RESUMO

PURPOSE: To determine whether percutaneous core needle biopsy (PCNB) is adequate for the diagnosis and full molecular characterization of newly diagnosed neuroblastoma. MATERIALS AND METHODS: Patients with newly diagnosed neuroblastoma who underwent PCNB in interventional radiology at a single center over a 5-year period were included. Pre-procedure imaging and procedure details were reviewed. Rates of diagnostic success and sufficiency for International Neuroblastoma Pathology Classification (INPC), risk stratification, and evaluation of genomic markers utilized in the Children's Oncology Group risk stratification, and status of the anaplastic lymphoma kinase (ALK) gene were assessed. RESULTS: Thirty-five patients (13 females, median age 2.4 years [interquartile range, IQR: 0.9-4.4] and median weight 12.4 kg [IQR: 9.6-18]) were included. Most had International Neuroblastoma Risk Group Stage M disease (n = 22, 63%). Median longest axis of tumor target was 8.8 cm [IQR: 6.1-12]. A 16-gauge biopsy instrument was most often used (n = 20, 57%), with a median of 20 cores [IQR: 13-23] obtained. Twenty-five specimens were assessed for adequacy, and 14 procedures utilized contrast-enhanced ultrasound guidance. There were two post-procedure bleeds (5.7%). Thirty-four of 35 procedures (97%) were sufficient for histopathologic diagnosis and risk stratification, 94% (n = 32) were sufficient for INPC, and 85% (n = 29) were sufficient for complete molecular characterization, including ALK testing. Biologic information was otherwise obtained from bone marrow (4/34, 12%) or surgery (1/34, 2.9%). The number of cores did not differ between patients with sufficient versus insufficient biopsies. CONCLUSION: In this study, obtaining multiple cores with PCNB resulted in a high rate of diagnosis and successful molecular profiling for neuroblastoma.


Assuntos
Neuroblastoma , Nitrobenzenos , Criança , Feminino , Humanos , Pré-Escolar , Estudos Retrospectivos , Biópsia/métodos , Biópsia com Agulha de Grande Calibre , Neuroblastoma/diagnóstico , Neuroblastoma/genética , Neuroblastoma/patologia , Medição de Risco , Receptores Proteína Tirosina Quinases , Biópsia Guiada por Imagem
2.
Pediatr Radiol ; 54(2): 357-361, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38141079

RESUMO

Congenital portosystemic shunts may result in the development of hepatopulmonary syndrome, typically presenting with progressive hypoxemia in later childhood. We describe a case of a 5-month-old male with heterotaxy with polysplenia presenting with new onset hypoxemia. Subsequent evaluation identified an extrahepatic portosystemic shunt arising from the confluence of the main portal and superior mesenteric veins draining into the left renal vein. To treat his hypoxemia and prevent future complications of shunting, the patient underwent a successful single-stage endovascular closure.


Assuntos
Síndrome Hepatopulmonar , Derivação Portossistêmica Transjugular Intra-Hepática , Malformações Vasculares , Lactente , Humanos , Masculino , Criança , Síndrome Hepatopulmonar/diagnóstico por imagem , Síndrome Hepatopulmonar/cirurgia , Síndrome Hepatopulmonar/etiologia , Derivação Portossistêmica Transjugular Intra-Hepática/efeitos adversos , Veia Porta/diagnóstico por imagem , Veia Porta/cirurgia , Malformações Vasculares/complicações , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/cirurgia , Hipóxia/complicações
3.
Pediatr Radiol ; 54(1): 181-196, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37962604

RESUMO

BACKGROUND: The management of pediatric trauma with trans-arterial embolization is uncommon, even in level 1 trauma centers; hence, there is a dearth of literature on this subject compared to the adult experience. OBJECTIVE: To describe a single-center, level 1 trauma center experience with arterial embolization for pediatric trauma. MATERIALS AND METHODS: A retrospective review was performed to identify demographics, transfusion requirements, pre-procedure imaging, procedural details, adverse events, and arterial embolization outcomes over a 19-year period. Twenty children (age 4.5 months to 17 years, median 13.5 years; weight 3.6 to 108 kg, median 53 kg) were included. Technical success was defined as angiographic resolution of the bleeding-related abnormality on post-embolization angiography or successful empiric embolization in the absence of an angiographic finding. Clinical success was defined as not requiring additional intervention after embolization. RESULTS: Seventy-five percent (n=15/20) of patients required red blood cell transfusions prior to embolization with a mean volume replacement 64 ml/kg (range 12-166 ml/kg) and the median time from injury to intervention was 3 days (range 0-16 days). Technical success was achieved in 100% (20/20) of children while clinical success was achieved in 80% (n=16/20). For the 4 children (20%) with continued bleeding following initial embolization, 2 underwent repeat embolization, 1 underwent surgery, and 1 underwent repeat embolization and surgery. Mortality prior to discharge was 15% (n=3). A post-embolization mild adverse event included one groin hematoma, while a severe adverse event included one common iliac artery pseudoaneurysm requiring open surgical ligation. CONCLUSIONS: In this single-center experience, arterial embolization for hemorrhage control in children after trauma is feasible but can be challenging and the clinical failure rate of 20% in this series reflects this complexity. Standardization of pre-embolization trauma assessment parameters and embolic techniques may improve outcomes.


Assuntos
Traumatismos Abdominais , Embolização Terapêutica , Adulto , Humanos , Criança , Lactente , Embolização Terapêutica/métodos , Hemorragia/diagnóstico por imagem , Hemorragia/terapia , Hemorragia/etiologia , Estudos Retrospectivos , Centros de Traumatologia , Resultado do Tratamento
4.
J Vasc Interv Radiol ; 34(10): 1815-1821, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37336489

RESUMO

PURPOSE: To describe a single-center experience of placing percutaneous nephrostomy (PCN) tubes in neonates and young infants aged ≤3 months. MATERIALS AND METHODS: This retrospective study evaluated PCN placement during a 19-year period. Medical records were reviewed for patient demographics, indications, procedure details, catheter-related adverse events, and outcomes. A total of 45 primary PCN insertions were attempted in 29 children (median age, 11 days [range, first day of life to 3 months]; median weight, 3.5 kg [range, 1.4-7.0 kg]). Salvage procedures resulted in 13 secondary catheters in 6 children. The most common indication was ureteropelvic junction obstruction (40.0%), and the most common urinary tract dilation classification was P3 (88.9%). RESULTS: Technical success for primary placements was 95.6%; both technical failures were due to loss of access in the same patient. Of primary placements, 76.7% were electively removed, 6.9% were dislodged but not replaced, and the remaining 16.3% required salvage procedures. Mechanical adverse events occurred in 20.9% of primary and 53.8% of secondary catheters, including partial retraction, complete dislodgement, and occlusion. Urinary tract infections (UTIs) occurred in 18.6% of primary and 15.4% of secondary catheters. Urosepsis occurred in 2.3% of primary and 7.7% of secondary catheters. Median primary catheter dwell time was 41 days (range, 1-182 days) and median secondary catheter dwell time was 31 days (range, 10-107 days). CONCLUSION: PCN placement in neonates and young infants has a high technical success rate, although not without particular procedural and management challenges of catheter malfunction and UTI.


Assuntos
Nefrostomia Percutânea , Obstrução Ureteral , Infecções Urinárias , Recém-Nascido , Criança , Humanos , Lactente , Nefrostomia Percutânea/efeitos adversos , Nefrostomia Percutânea/métodos , Estudos Retrospectivos , Catéteres , Infecções Urinárias/etiologia , Obstrução Ureteral/diagnóstico por imagem , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia
5.
J Pediatr Gastroenterol Nutr ; 76(3): 379-384, 2023 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-36728771

RESUMO

OBJECTIVES: One potential treatment for gastrojejunostomy (GJ) tube-related intussusception is bowel rest, whereby the GJ tube is replaced with a gastrostomy tube. The aim of this study was to determine whether bowel rest length was associated with decreased risk of re-intussusception. METHODS: Pediatric patients with GJ tube-related intussusceptions were identified during the study period of January 1, 2010 and August 1, 2021. Records were reviewed for demographics, symptoms, need for central access to initiate parenteral nutrition, and length of stay. Comparison was made between patients with intussusception recurrence within 30 days and those without. Those undergoing earlier replacement, defined as the first quartile of rest time, or 72 hours, were then compared to longer periods of bowel rest. RESULTS: Forty-six intussusceptions were included, with a median age of 2.8 years (interquartile range, IQR: 1.4-4.1) and weight of 12 kg (IQR: 8.9-15.4). All patients diagnosed as outpatient (54.3%) required hospital admission and 9 of 46 (19.6%) required central access. There were 7 recurrences (15.2%). There was no difference in recurrence based on time of bowel rest (5 days in those without vs 6 days in those with, P = 0.30) nor a difference in recurrence with <72 hours of bowel rest compared to >72 hours (1/15, 6.7% vs 6/31, 19.3%). Patients undergoing earlier exchange had a shorter median length of hospital stay (3 vs 8.5 days, P = 0.003). CONCLUSION: Length of bowel rest was not associated with recurrent GJ tube-related intussusceptions. If bowel rest is utilized, <72 hours may be sufficient to decrease length of hospital stay.


Assuntos
Derivação Gástrica , Intussuscepção , Humanos , Criança , Lactente , Pré-Escolar , Nutrição Enteral , Intussuscepção/etiologia , Intussuscepção/cirurgia , Derivação Gástrica/efeitos adversos , Estudos Retrospectivos , Intubação Gastrointestinal , Recidiva
6.
Childs Nerv Syst ; 39(1): 295-299, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35849142

RESUMO

BACKGROUND: Venous malformations (VMs) are slow-flow vascular anomalies present at birth that enlarge during adolescence, subsequently causing thrombosis, hemorrhage, and pain. CASE PRESENTATION: We describe a case of an adolescent male presenting with a large scalp venous malformation. Given the size and location of the lesion, a hybrid approach employing both sclerotherapy and surgical resection was utilized. The VM was successfully removed without complication. CONCLUSION: A hybrid approach is a safe and effective treatment consideration for immediate management of large venous malformation in higher-risk locations.


Assuntos
Escleroterapia , Malformações Vasculares , Adolescente , Recém-Nascido , Humanos , Criança , Masculino , Couro Cabeludo , Malformações Vasculares/cirurgia , Resultado do Tratamento
7.
Pediatr Radiol ; 53(2): 324-331, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36104540

RESUMO

Primary percutaneous gastrostomy and gastrojejunostomy tube placements are fundamental procedures performed in pediatric interventional radiology, with both antegrade and retrograde techniques described. In pediatric patients, however, challenges may arise due to smaller patient size and anatomical variations. Several adjunctive techniques may facilitate safe percutaneous access in the setting of a limited percutaneous gastric access window. These include the intra-procedural use of cone beam computed tomography (CT), percutaneous needle decompression in the setting of distended air-filled bowel interposed between the stomach and abdominal wall, post-pyloric balloon occlusion to facilitate gastric distension, ultrasound-guided gastric puncture, and intra-gastric contrast-enhanced ultrasound (ceUS) to define the relationship of the gastric wall and the anterior abdominal wall. Adjunctive techniques may increase successful primary percutaneous gastroenteric tube placement and may improve operator confidence in safe placement.


Assuntos
Derivação Gástrica , Gastrostomia , Humanos , Criança , Gastrostomia/métodos , Fluoroscopia/métodos , Estômago , Nutrição Enteral , Derivação Gástrica/métodos
8.
Pediatr Radiol ; 53(11): 2245-2252, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37568041

RESUMO

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.

9.
Skeletal Radiol ; 52(12): 2479-2486, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37191930

RESUMO

PURPOSE: The thin and friable septations composing aneurysmal bone cysts (ABC) may be challenging to target for percutaneous biopsy. The purpose of this study was to describe and evaluate a novel method of ABC biopsy using endomyocardial biopsy forceps as an attempt to capture larger fragments of tissue for diagnosis. METHODS AND MATERIALS: This was a retrospective study performed over a 17-year period. Patients <18 years old who underwent percutaneous biopsy for a presumed ABC, based on pre-procedure imaging, were included. Medical records were reviewed to identify age, sex, lesion location, biopsy procedure details, complications, and pathology results. A diagnostic biopsy was defined as conclusive histologic confirmation. Inconclusive findings or findings suggestive of but not diagnostic of an ABC were treated as non-diagnostic, even if imaging and clinical findings were characteristic. Biopsy device selection and quantity of tissue obtained was at the discretion of the pediatric interventional radiologist. Fisher's exact test was used to compare the diagnostic yield of standard biopsies to those employing biopsy forceps. RESULTS: Twenty-three biopsies were performed in 18 patients (11 female) with a median age of 14.7 years (IQR 10.6-15.6). Lesions were located in the extremities (7, 30.4%), chest (6, 26.1%), pelvis (5, 21.7%), spine (4, 17.4%), and mandible (1, 4.3%). Specimens were obtained using a 13- or 15-gauge bone coring needle (11, 47.8%); 14-, 16-, or 18-gauge soft tissue needle (6, 26.1%); or a combination of bone and soft tissue (4, 17.4%) needles. Endomyocardial biopsy forceps were utilized in 7 cases (30.4%), 2 in which it was the only device used. Overall, a conclusive pathologic diagnosis was made in 13/23 (56.5%) biopsies. Of the diagnostic biopsies, 1 was a unicameral bone cyst and all others were ABCs. No malignancy was identified. Compared to the standard approach, the use of forceps was more likely to result in a diagnostic biopsy (40.0% vs 100.0%, p = 0.008). There were no complications. CONCLUSIONS: Endomyocardial biopsy forceps offer an additional, novel technique to biopsy presumed ABCs and may improve diagnostic yield.


Assuntos
Cistos Ósseos Aneurismáticos , Cistos Ósseos , Humanos , Criança , Feminino , Adolescente , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/patologia , Estudos Retrospectivos , Biópsia , Cistos Ósseos/patologia , Extremidades/patologia
10.
J Vasc Interv Radiol ; 33(11): 1424-1431, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35842024

RESUMO

PURPOSE: To provide guidance on the use of anticoagulant and antithrombotic agents in pediatric patients undergoing interventional radiology procedures. MATERIALS AND METHODS: A multidisciplinary writing group conducted a comprehensive literature search to identify studies on the topic of interest. Recommendations were developed for procedural risk and medication dosage and withholding. A modified Delphi technique was used to achieve consensus agreement on the recommendations. RESULTS: A total of 24 studies, including systematic reviews and meta-analyses, randomized controlled trials, and prospective and retrospective cohort studies, were identified as relevant. The expert writing group agreed on procedural risk categorization, laboratory testing thresholds, and medication dosage and withholding recommendations specific to pediatric practice. They additionally described the nuances of anticoagulation in clinical conditions specific to pediatrics. CONCLUSIONS: The Society of Interventional Radiology recommends following the guidance provided in the document when developing multidisciplinary management protocols for anticoagulation and antithrombotic treatment in pediatric patients undergoing interventional radiology procedures.


Assuntos
Trombose , Humanos , Criança , Estudos Retrospectivos , Estudos Prospectivos , Trombose/diagnóstico por imagem , Trombose/etiologia , Trombose/prevenção & controle , Anticoagulantes , Consenso , Radiologia Intervencionista
11.
Pediatr Radiol ; 52(8): 1592-1595, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35445817

RESUMO

Mesenteric lymphatic malformations result from abnormal proliferation of disorganized mesenteric lymphatic channels. Sclerotherapy is often preferred over surgery as it is less invasive and has lower post-procedure morbidity. Sclerotherapy has been described as durable and effective with a low complication rate. We describe a serious complication from sclerotherapy of a lymphatic malformation extending from the mesentery through the bowel wall, highlighting the spectrum of this pathology and the need for multidisciplinary management of complex cases.


Assuntos
Cavidade Abdominal , Perfuração Intestinal , Anormalidades Linfáticas , Humanos , Perfuração Intestinal/diagnóstico por imagem , Perfuração Intestinal/etiologia , Perfuração Intestinal/terapia , Anormalidades Linfáticas/diagnóstico por imagem , Anormalidades Linfáticas/terapia , Estudos Retrospectivos , Soluções Esclerosantes/efeitos adversos , Escleroterapia/efeitos adversos , Escleroterapia/métodos , Resultado do Tratamento
12.
Pediatr Radiol ; 52(5): 971-976, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35076728

RESUMO

BACKGROUND: Chest radiographs are commonly obtained after chest tube removal to assess for complications. The benefit of this practice in children is uncertain. OBJECTIVE: To determine the clinical impact of a routine chest radiograph following removal of chest tubes placed by pediatric interventional radiology. MATERIALS AND METHODS: This single-center retrospective study evaluated 200 chest tube removals in 176 patients (median age: 4 years, interquartile range [IQR]: 1.2-12; median weight: 17.2 kg, IQR: 10.67-37.6), who had a chest tube placed and removed by pediatric interventional radiology over a 16-year period. A chest radiograph obtained on the day of removal was compared to the preceding study. For patients with imaging changes, medical records were reviewed to determine whether clinical actions occurred as a result. All records were reviewed for 7 days after tube removal or hospital discharge, whichever occurred first. RESULTS: The most common indication for chest tube insertion was simple effusion (53%, 106/200) and the most common tube size was 10.2 French (38.7%, 81/209). The median tube dwell time was 8 days (IQR: 5-17). There was a median of 14 h (IQR: 7-33.5) between imaging before and after tube removal. Imaging changes occurred in 10% (n = 20/200) of chest tube removals. Three of 200 (1.5%) of these were symptomatic after removal and only 0.5% (1/200) required chest tube reinsertion. For the remaining removals resulting in chest radiograph changes, patients were asymptomatic and required no change in clinical management. CONCLUSION: For chest tubes placed by pediatric interventional radiology, these findings do not support the practice of a routine chest radiograph after removal in asymptomatic children.


Assuntos
Tubos Torácicos , Radiologia Intervencionista , Criança , Pré-Escolar , Remoção de Dispositivo , Humanos , Radiografia , Estudos Retrospectivos
13.
J Craniofac Surg ; 33(7): 2001-2004, 2022 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-35288496

RESUMO

ABSTRACT: Temporomandibular joint (TMJ) ankylosis in children can alter facial development and affect oral hygiene and function. Surgical release of the ankylosis is the mainstay of treatment. The authors hypothesize that preoperative arterial coil embolization is safe and effective in preventing major blood loss during TMJ surgery (loss prompting blood transfusion or hemodynamic instability requiring vasoactive medication administration) in children with TMJ ankylosis. Patients < 16 years who were diagnosed with TMJ ankylosis (<15 maximal interincisal opening) and had embolization before surgery in the last 5 years were included. Out of 9 initial search results, 3 patients were excluded (age > 16). Information gathered were patient demographics, diagnostic imaging, procedural details, complications, and clinical outcomes. Six patients, mean age 11.14 years (range 7-15 years) year and a mean weight of 40.8 ± 19 kg were included. Underlying etiologies for TMJ ankylosis: Pierre Robin Syndrome (n = 2), juvenile rheumatoid arthritis (n = 1), Goldenhar's syndrome (n = 1), trauma (n = 1), and micrognathia (n = 1). Neck computed tomography angiogram before embolization demonstrated an intimate approximation between the internal maxillary artery (IMAX) and/or external carotid artery and ankylotic mass in all patients. Eight successful embolizations were performed without procedural complication. In 1 patient with angiographic evidence of surgical internal maxillary artery ligation, embolization was performed via collaterals. Surgery was performed within 48 hours of embolization. Airway access during surgery was via nasal intubation (n = 4), oral intubation (n = 3). The estimated blood loss (EBL) during surgery was 78.33 ± 47.08 ml. Three patients had subsequent TMJ surgery with a mean estimated blood loss of 73.33 ± 46.18 ml. After a mean follow-up of 17 ± 15 months, patients showed a 13.8mm mean increment of maximal interincisal opening with 95% CI (5.74-21.9), P < 0.007.


Assuntos
Anquilose , Transtornos da Articulação Temporomandibular , Adolescente , Anquilose/etiologia , Anquilose/cirurgia , Criança , Humanos , Artéria Maxilar/cirurgia , Articulação Temporomandibular/lesões , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/complicações , Transtornos da Articulação Temporomandibular/cirurgia
14.
Emerg Radiol ; 29(5): 903-914, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35678950

RESUMO

PURPOSE: While interventional radiologists occupy a critical role in adult trauma management, the role of interventionalist in pediatric trauma continues to evolve. The indications for transarterial embolization (TAE) are significantly different in pediatric patients in whom non-operative management (NOM) has a much more prominent role than in adults. Contrast extravasation on imaging may not require acute surgical or interventional management as it would in an adult. There are also areas in which pediatric interventional radiology is increasingly useful such as pelvic TAE in failed management, or splenic embolization to treat bleeding without the loss of splenic function inherent to surgical splenectomy. The rapid evolution of techniques and devices in pediatric patients is also changing what interventions are possible in pediatric trauma management which necessitates frequent reassessment of the guidelines and interventional radiology's role in caring for these patients. CONCLUSION: This review seeks to consolidate the recent literature to describe the evolving role of the interventional radiologist in pediatric trauma management.


Assuntos
Papel Profissional , Radiologistas , Ferimentos e Lesões , Criança , Embolização Terapêutica/métodos , Humanos , Baço/diagnóstico por imagem , Baço/lesões , Baço/cirurgia , Esplenectomia , Ferimentos e Lesões/diagnóstico por imagem , Ferimentos e Lesões/terapia
15.
Am J Med Genet A ; 185(7): 2168-2174, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33960657

RESUMO

Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also demonstrated kidney disease, elevated aminotransferases, and recurrent skin lesions found by exome sequencing to have de novo missense variants in RNF213. These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susceptibility locus. The cases also suggest a new, multi-organ RNF213-spectrum disease characterized by liver, skin, and kidney pathology in addition to severe moyamoya disease caused by heterozygous, de novo C-terminal RNF213 missense variants.


Assuntos
Adenosina Trifosfatases/genética , Nefropatias/genética , Doença de Moyamoya/genética , Dermatopatias/genética , Ubiquitina-Proteína Ligases/genética , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Nefropatias/complicações , Nefropatias/patologia , Masculino , Doença de Moyamoya/complicações , Doença de Moyamoya/patologia , Neovascularização Fisiológica/genética , Dermatopatias/complicações , Dermatopatias/patologia , Transaminases/genética , Sequenciamento do Exoma
16.
AJR Am J Roentgenol ; 217(3): 741-752, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33405944

RESUMO

BACKGROUND. Extensive lymphatic malformations (LMs) may cause substantial morbidity. The mammalian target of rapamycin (mTOR) inhibitor sirolimus shows promise for treating vascular anomalies, although response assessment is not standardized. OBJECTIVE. The purpose of this study was to retrospectively characterize changes seen on MRI of children with extensive LMs treated with sirolimus. METHODS. Twenty-five children treated with sirolimus for extensive LMs were included. Baseline MRI was defined as the MRI examination performed closest to therapy initiation; follow-up MRI was defined as the most recent MRI examination performed while the patient was receiving therapy. Two pediatric radiologists independently determined MRI lesion volume by tracing lesion contours on all slices (normalized to patient body surface area expressed in square meters) and determined signal by placing an ROI on the dominant portion of the lesions (normalized to CSF signal) on baseline and follow-up T2-weighted MRI sequences. Interreader agreement was determined, and values were averaged for further analysis. Volume and signal changes were compared with patient, lesion, and treatment characteristics. RESULTS. The mean (± SD) interval between initiation of sirolimus treatment and follow-up MRI was 22.1 ± 13.8 months. The mean lesion volume index on baseline and follow-up MRI was 728 ± 970 and 345 ± 501 mL/m2, respectively (p < .001). Ninety-two percent of children showed a decrease in lesion volume index that was greater than 10% (mean volume change, -46.4% ± 28.2%). Volume change was inversely correlated with age (r = -0.466; p = .02). The mean volume change was -64.7% ± 25.4% in children younger than 2 years old versus -32.0% ± 21.6% in children 2 years old or older (p = .008). The mean volume change was -58.1% ± 24.0% for craniocervical lesions versus -35.5% ± 28.2% for lesions involving the trunk and/or extremities (p = .03). Mean lesion signal ratio on baseline and follow-up MRI was 0.81 ± 0.29 and 0.59 ± 0.26, respectively (p < .001). Mean signal ratio change was -23.8% ± 22.7%. Volume and signal changes were moderately correlated (r = 0.469; p = .02). Volume and signal changes were not associated with sex, lesion subtype, serum concentration of sirolimus, or the interval between sirolimus initiation and follow-up MRI (p > .05). Interreader agreement for volume index change was excellent (intraclass correlation coefficient, 0.983), and that for signal ratio change was moderate to good (intraclass correlation coefficient, 0.764). CONCLUSION. Sirolimus treatment of extensive LMs in children is associated with significant reductions in volume and signal on T2-weighted MRI. The decrease in volume is greater in younger children and craniocervical lesions. CLINICAL IMPACT. The results may facilitate development of standardized MRI-based criteria for assessing the response of vascular malformations to pharmacotherapy.


Assuntos
Imunossupressores/uso terapêutico , Linfonodos/anormalidades , Linfonodos/diagnóstico por imagem , Anormalidades Linfáticas/tratamento farmacológico , Imageamento por Ressonância Magnética/métodos , Sirolimo/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
17.
Pediatr Radiol ; 51(2): 307-310, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32889586

RESUMO

Central venous lines may require contrast injection under fluoroscopy to evaluate for dysfunction such as occlusion, fibrin sheath development or catheter fracture. Rarely, some patients may be too ill to travel to the interventional radiology suite for this examination. We present a case utilizing contrast-enhanced ultrasound (CEUS) at the bedside to assess catheter integrity in a critically ill infant with a large intra-abdominal fluid collection. CEUS demonstrated extravasation into the collection, confirming catheter fracture and prompting immediate cessation of line use and recommendation for exchange. This case shows the utility of CEUS to evaluate central venous access devices in children who are unable to travel to interventional radiology for a standard contrast injection.


Assuntos
Cateterismo Venoso Central , Cateterismo Periférico , Cateteres Venosos Centrais , Hipertensão Intra-Abdominal , Cateterismo Venoso Central/efeitos adversos , Cateteres Venosos Centrais/efeitos adversos , Criança , Humanos , Lactente , Ultrassonografia
18.
Pediatr Radiol ; 51(13): 2507-2520, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34374838

RESUMO

BACKGROUND: Renal artery stenosis is an important cause of hypertension in children, accounting for 5-10% of cases. When suspected, noninvasive imaging options include ultrasound (US), computed tomography (CT) angiography and magnetic resonance (MR) angiography. However, digital subtraction angiography (DSA) remains the gold standard. OBJECTIVE: To investigate the accuracy and inter-reader reliability of CT angiography in children with suspected renal artery stenosis. MATERIALS AND METHODS: This is a retrospective study of patients suspected of having renal artery stenosis evaluated by both CT angiography and DSA between 2008 and 2019 at a tertiary pediatric hospital. Only children who underwent CT angiography within 6 months before DSA were included. CT angiography studies were individually reviewed by two pediatric radiologists, blinded to clinical data, other studies and each other's evaluation, to determine the presence of stenosis at the main renal artery and 2nd- and 3rd-order branches. The sensitivity, specificity and accuracy were calculated using DSA as the reference. The effective radiation dose for CT angiography and DSA was also calculated. Kappa statistics were used to assess inter-reader agreement. RESULTS: Seventy-four renal units were evaluated (18 girls, 19 boys). The patients' median age was 8 years (range: 1-21 years). Overall, CT angiography was effective in detecting renal artery stenosis with a sensitivity of 85.7%, specificity of 91.5% and accuracy of 88.9%. There was moderate inter-reader agreement at the main renal artery level (k=0.73) and almost perfect inter-reader agreement at the 2nd/3rd order (k=0.98). However, the sensitivity at the 2nd- and 3rd-order level was lower (14.3%). CT angiography provided excellent negative predictive value for evaluating renal artery stenosis at the main renal artery level (90.1%) and at the 2nd- or 3rd-order branches (82.7%). The median effective dose of CT angiography studies was 2.2 mSv (range: 0.6-6.3) while the effective dose of DSA was 13.7 mSv. CONCLUSION: CT angiography has high sensitivity and specificity at the main renal artery level with a lower radiation dose than previously assumed. Therefore, it can be used as a diagnostic tool in patients with low to medium risk of renal artery stenosis, and as a screening and treatment planning tool in patients at high risk.


Assuntos
Angiografia por Tomografia Computadorizada , Obstrução da Artéria Renal , Adolescente , Adulto , Angiografia Digital , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Angiografia por Ressonância Magnética , Masculino , Obstrução da Artéria Renal/diagnóstico por imagem , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X , Adulto Jovem
19.
Pediatr Radiol ; 51(12): 2396-2407, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33978796

RESUMO

There is growing interest in the use of contrast-enhanced ultrasound (CEUS) in diagnostic and interventional radiology. CEUS applications in interventional radiology are performed with intravascular or intracavitary administration of microbubble-based US contrast agents to allow for real-time evaluation of their distribution within the vascular bed or in body cavities, respectively, providing additional information beyond gray-scale US alone. The most common interventional-radiology-related CEUS applications in children have been extrapolated from those in adults, and they include the use of CEUS to guide lesion biopsy and to confirm drain placement in pleural effusions and intra-abdominal fluid collections. Other applications are emerging in interventional radiology for use in adults and children, including CEUS to optimize sclerotherapy of vascular malformations, to guide arthrography, and for lymphatic interventions. In this review article we present a wide range of interventional-radiology-related CEUS applications, emphasizing the current and potential uses in children. We highlight the technical parameters of the CEUS examination and discuss the main imaging findings.


Assuntos
Meios de Contraste , Radiologia Intervencionista , Adulto , Criança , Drenagem , Humanos , Microbolhas , Ultrassonografia , Ultrassonografia de Intervenção
20.
Pediatr Radiol ; 51(12): 2139-2146, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33978800

RESUMO

The addition of contrast US to an existing pediatric US service requires several preparatory steps. This overview provides a guide to simplify the process. Initially, it is important to communicate to all stakeholders the justifications for pediatric contrast US, including (1) its comparable or better diagnostic results relative to other modalities; (2) its reduction in procedural sedation or anesthesia by avoiding MRI or CT; (3) its reduction or elimination of radiation exposure by not having to perform fluoroscopy or CT; (4) the higher safety profile of US contrast agents (UCA) compared to other contrast agents; (5) the improved exam comfort and ease inherent to US, leading to better patient and family experience, including bedside US exams for children who cannot be transported; (6) the need for another diagnostic option in light of increasing demand by parents and providers; and (7) its status as an approved and reimbursable exam. It is necessary to have an UCA incorporated into the pharmacy formulary noting that only SonoVue/Lumason is currently approved for pediatric use. In the United States this UCA is approved for intravenous administration for cardiac and liver imaging and for vesicoureteric reflux detection with intravesical application. In Europe and China it is only approved for the intravesical use in children. All other applications are off-label. The US scanner needs to be equipped with contrast-specific software. The UCA has to be prepared just before the exam and it is important to strictly follow the steps as outlined in the packaging inserts in order to prevent premature destruction of the microbubbles. The initial training in contrast US is best focused on the frontline staff actually performing the US studies; these might be sonographers, pediatric or interventional radiologists, or trainees. It is important from the outset to educate the referring physicians about contrast US. It is helpful to participate in existing contrast US courses, particularly those with hands-on components.


Assuntos
Meios de Contraste , Refluxo Vesicoureteral , Criança , Fluoroscopia , Humanos , Microbolhas , Ultrassonografia
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