RESUMEN
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.
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Traumatismos Abdominales , Embolización Terapéutica , Adulto , Humanos , Niño , Lactante , Embolización Terapéutica/métodos , Hemorragia/diagnóstico por imagen , Hemorragia/terapia , Hemorragia/etiología , Estudios Retrospectivos , Centros Traumatológicos , Resultado del TratamientoRESUMEN
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.
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Nefrostomía Percutánea , Obstrucción Ureteral , Infecciones Urinarias , Recién Nacido , Niño , Humanos , Lactante , Nefrostomía Percutánea/efectos adversos , Nefrostomía Percutánea/métodos , Estudios Retrospectivos , Catéteres , Infecciones Urinarias/etiología , Obstrucción Ureteral/diagnóstico por imagen , Obstrucción Ureteral/etiología , Obstrucción Ureteral/cirugíaRESUMEN
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.
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Derivación Gástrica , Gastrostomía , Humanos , Niño , Gastrostomía/métodos , Fluoroscopía/métodos , Estómago , Nutrición Enteral , Derivación Gástrica/métodosRESUMEN
Congenital heart disease can lead to various lymphatic complications including traumatic leaks, lymphatic overproduction, conduction abnormalities or lymphedema. Advancements in the imaging of central lymphatics and guided interventions have improved outcomes in these children. Dynamic contrast-enhanced magnetic resonance (MR) lymphangiography allows for the assessment of abnormal lymphatic drainage. This technique is preferred for evaluating lymphatic conditions such as plastic bronchitis, chylothorax, chyloptysis, chylopericardium, protein-losing enteropathy and chylous ascites, among other lymphatic disorders. In this review, we discuss lymphatic abnormalities encountered on MRI in children with congenital heart disease. We also briefly review treatment options.
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Quilotórax , Cardiopatías Congénitas , Anomalías Linfáticas , Niño , Quilotórax/diagnóstico por imagen , Quilotórax/terapia , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Anomalías Linfáticas/diagnóstico por imagen , Sistema Linfático/diagnóstico por imagen , Linfografía/métodos , Imagen por Resonancia Magnética/métodosRESUMEN
Magnetic resonance imaging (MRI) and CT perform an important role in the evaluation of neonates with congenital heart disease (CHD) when echocardiography is not sufficient for surgical planning or postoperative follow-up. Cardiac MRI and cardiac CT have complementary applications in the evaluation of cardiovascular disease in neonates. This review focuses on the indications and technical aspects of these modalities and special considerations for imaging neonates with CHD.
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Cardiopatías Congénitas , Tomografía Computarizada por Rayos X , Corazón/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética , Tomografía Computarizada por Rayos X/métodosRESUMEN
BACKGROUND: Patients with tuberous sclerosis complex (TSC) can develop solid kidney masses from childhood. Imaging surveillance is done to detect renal cell carcinoma (RCC) and angiomyolipomas (AML), including AMLs at risk for hemorrhage. Intravenous contrast-enhanced ultrasound (CEUS) may be useful for screening as ultrasound is well tolerated by children and ultrasound contrast agents (UCA) are not nephrotoxic. METHODS: Retrospective review of kidney CEUS exams of pediatric TSC patients. Qualitative CEUS analysis by consensus of 3 radiologists assessed rate, intensity, and pattern of lesion enhancement. Quantitative CEUS analysis was performed using Vuebox®. Where available, abdominal MRI was analyzed qualitatively for the same features and quantitatively by in-house-developed software. Time-intensity curves were generated from both CEUS and MRI where possible. Appearance of lesions were compared between CEUS and MRI and histology where available. RESULTS: Nine masses in 5 patients included one histologically proven RCC and 8 AMLs diagnosed by imaging. Quantitative CEUS of RCC showed malignant features including increased peak enhancement 162%, rapid wash-in rate 162%, and elevated washout rate 156% compared to normal kidney tissue; versus AML which was 68%, 105%, and 125%, respectively. All masses were hypoenhancing on MRI compared to normal kidney tissue; MR dynamic contrast study offered no distinction between RCC and AML. The only MRI feature differentiating RCC from AML was absence of fat. CONCLUSION: Temporal resolution afforded by CEUS was useful to distinguish malignant from benign kidney masses. CEUS may prove useful for screening, characterizing, and follow-up of kidney lesions in pediatric TSC patients.
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Angiomiolipoma , Carcinoma de Células Renales , Neoplasias Renales , Esclerosis Tuberosa , Angiomiolipoma/diagnóstico por imagen , Carcinoma de Células Renales/diagnóstico por imagen , Niño , Medios de Contraste , Diagnóstico Diferencial , Humanos , Neoplasias Renales/diagnóstico por imagen , Estudios Retrospectivos , Esclerosis Tuberosa/diagnóstico por imagen , UltrasonografíaRESUMEN
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.
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Medios de Contraste , Radiología Intervencionista , Adulto , Niño , Drenaje , Humanos , Microburbujas , Ultrasonografía , Ultrasonografía IntervencionalRESUMEN
BACKGROUND: Clotting factor replacement forms the pillar of treatment for children with hemophilia. Most children can be treated using peripheral venipuncture, but very young children and children with poor venous access might require a central venous catheter. Short-term and long-term complications of implantable venous access device placement (also known as port placement) can result in important morbidity and mortality in children with hemophilia. OBJECTIVE: The purpose of this study is to describe our experience with port placement in children and adolescents with severe hemophilia (<1% of the Factors VIII or IX). MATERIALS AND METHODS: We performed a retrospective review over a 10-year period to identify port placement in pediatric patients with severe hemophilia. We reviewed demographic and procedural information, access frequency, mechanical complications, and central-line-associated bloodstream infections (CLABSI). Eighteen males were included, with median age at insertion of 3.9 years (0.7-22.7 years). Fifteen of the 18 patients had hemophilia Type A and 3/18 had Type B. Thirteen had high neutralizing inhibitor titers. RESULTS: Technical success in port placement was achieved in 26/27 (96.3%) patients, with 1 port failure caused by venous occlusion from prior catheter placement. Port catheter size ranged from 5 French (Fr) to 7.5 Fr. All were single-lumen and placed via right (76.9%) or left (23.1%) internal jugular vein; 59.3% were placed during general anesthesia, and all had factor replacement prophylaxis. A peripherally inserted central catheter (PICC) was placed concurrently in 69.2% of the cases; per hospital policy, the port was only accessed 15 days post-placement to reduce the risk of site hematoma. Two patients were lost to follow-up. The total catheter days was 15,893. Ports were removed in 14/24 cases, most commonly because of CLABSI (7/24; 29.2%) and transition to peripheral infusion (3/24; 12.5%). Bleeding was the most common complication in the first 30 days after placement. There were nine CLABSI events (0.57 per 1,000 catheter days), all in patients with high neutralizing inhibitor titers. A higher frequency of port access (more or equal to daily vs. less than daily) correlated with higher infection rates (P=0.02). Median time from port insertion to first infection was 348 days (range 167-1,055 days). There were four fibrin-sheath-related catheter occlusions (0.25 per 1,000 catheter days): three catheters were salvaged with intra-catheter tissue plasminogen activator (tPA) instillation resulting in a salvage of an additional 1,214 catheter days, and one catheter was removed after tPA failure (0.06 per 1,000 catheter days). CONCLUSION: Port maintenance in boys with severe hemophilia is challenging given the need for long-term frequent device access that is associated with catheter-related infections. The rate of bleeding or infection did not differ in patients whether the device was accessed immediately or 15 days post placement. With appropriate pre- and post-procedural factor replacement, immediate and early term severe complications are not common.
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Factores de Coagulación Sanguínea/administración & dosificación , Cateterismo Venoso Central , Catéteres de Permanencia , Hemofilia A/terapia , Adolescente , Infecciones Relacionadas con Catéteres/etiología , Cateterismo Venoso Central/efectos adversos , Catéteres de Permanencia/efectos adversos , Niño , Humanos , Masculino , Estudios RetrospectivosRESUMEN
PURPOSE: To evaluate technical success and the incidences of, and risk factors for, mechanical and infectious complications of venous port placement in infants. MATERIALS AND METHODS: This was a retrospective single-institution cohort study of port placement in infants (age < 1 y) from January 2006 through June 2016 (mean age, 7.5 mo ± 3.3; mean weight, 8.1 kg ± 1.9). Age, weight, sex, side of placement, tip position, and indication for placement (chemotherapy vs other) were recorded. Total catheter-days (CDs), mechanical complications, and central catheter-associated bloodstream infections (CCABSIs) were identified. RESULTS: During the study years, 64 ports were placed in 64 infants, with a technical success rate of 100%. The mean catheter life was 321 days (total range, 4-1,917 d; interquartile range [IQR], 107-421 d). There were 13 CCABSI events (0.63 per 1,000 CDs); of these, 8 (12.5% among 64 patients) required port removal for infection. There was an increase in CCABSIs in patients with left-sided port placement (relative risk [RR], 3.22; 95% confidence interval [CI], 1.02-10.14; P = .05). There were 8 mechanical complications of the port reservoir or catheter (0.39 per 1,000 CDs). Of these, 2 (3.1%) required removal. Patients in the lowest weight quartile were at an increased risk of mechanical complications (RR, 4.37; 95% CI, 1.09-17.48; P = .04). CONCLUSIONS: Venous ports can be placed with a high rate of technical success in infants. Left-sided ports and low weight are associated with increased infectious and mechanical complications, respectively.
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Infecciones Relacionadas con Catéteres/epidemiología , Cateterismo Venoso Central/métodos , Catéteres de Permanencia , Cateterismo Venoso Central/efectos adversos , Catéteres de Permanencia/efectos adversos , Remoción de Dispositivos , Femenino , Humanos , Lactante , Masculino , Radiografía Intervencional , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
We report successful percutaneous nephrolithotomy (PCNL) in an 8-week-old, 4.12 kg infant with a combined stone burden of > 2 cm in a solitary kidney. The patient was born with thoracolumbar myelomeningocele and had developed recurrent urinary tract infections. Her size precluded retrograde intrarenal surgery and shockwave lithotripsy would be unlikely to clear the stone burden. Stone analysis revealed hydroxyapatite and carbonate apatite stones, and metabolic work up revealed hypercalciuria for which chlorothiazide was started. To our knowledge, this is the youngest patient to undergo PCNL reported in the literature.
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Cálculos Renales/cirugía , Meningomielocele/diagnóstico por imagen , Nefrolitotomía Percutánea/métodos , Ultrasonografía Doppler , Cateterismo Urinario/métodos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Cálculos Renales/diagnóstico por imagen , Meningomielocele/cirugía , Monitoreo Intraoperatorio/métodos , Seguridad del Paciente , Medición de Riesgo , Resultado del Tratamiento , Infecciones Urinarias/diagnóstico , Infecciones Urinarias/etiologíaRESUMEN
Magnetic resonance imaging (MRI) often provides better visualization of bone marrow abnormalities than computed tomography (CT) or fluoroscopy, but bone biopsies are usually performed using conventional CT or, more recently, C-arm CT guidance. Biopsies of bone lesions solely visible on MRI are often challenging to localize and require the operator to review the MRI on a separate console to correlate with MRI anatomical landmarks during the biopsy. The MR overlay technique facilitates such biopsies in the angiographic suite by allowing the pre-procedural 3-D MRI to be overlaid on intraprocedural 2-D fluoroscopy. This study describes our initial experience with the MR overlay technique in the angiography suite during pediatric percutaneous extremity bone biopsies of lesions visible on MRI but not on CT or fluoroscopy and demonstrates its utility in relevant clinical cases.
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Enfermedades Óseas/diagnóstico por imagen , Angiografía por Resonancia Magnética/métodos , Puntos Anatómicos de Referencia , Biopsia con Aguja , Enfermedades Óseas/patología , Niño , Femenino , Fluoroscopía , Humanos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional , Masculino , Estudios Prospectivos , Dosis de Radiación , Radiografía Intervencional , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Reduced-dose C-arm computed tomography (CT) uses flat-panel detectors to acquire real-time 3-D images in the interventional radiology suite to assist with anatomical localization and procedure planning. OBJECTIVE: To describe dose-reduction techniques for C-arm CT at a pediatric institution and to provide guidance for implementation. MATERIALS AND METHODS: We conducted a 5-year retrospective study on procedures using an institution-specific reduced-dose protocol: 5 or 8 s Dyna Rotation, 248/396 projection images/acquisition and 0.1-0.17 µGy/projection dose at the detector with 0.3/0.6/0.9-mm copper (Cu) filtration. We categorized cases by procedure type and average patient age and calculated C-arm CT and total dose area product (DAP). RESULTS: Two hundred twenty-two C-arm CT-guided procedures were performed with a dose-reduction protocol. The most common procedures were temporomandibular and sacroiliac joint injections (48.6%) and sclerotherapy (34.2%). C-arm CT was utilized in cases of difficult percutaneous access in less common applications such as cecostomy and gastrostomy placement, foreign body retrieval and thoracentesis. C-arm CT accounted for between 9.9% and 80.7% of the total procedural DAP. CONCLUSION: Dose-reducing techniques can preserve image quality for intervention while reducing radiation exposure to the child. This technology has multiple applications within pediatric interventional radiology and can be considered as an adjunctive imaging tool in a variety of procedures, particularly when percutaneous access is challenging despite routine fluoroscopic or ultrasound guidance.
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Dosis de Radiación , Protección Radiológica/métodos , Radiografía Intervencional/métodos , Tomografía Computarizada por Rayos X/métodos , Adolescente , Niño , Preescolar , Femenino , Humanos , Imagenología Tridimensional , Masculino , Exposición a la Radiación , Estudios RetrospectivosRESUMEN
BACKGROUND: Navigational software provides real-time fluoroscopic needle guidance for percutaneous procedures in the Interventional Radiology (IR) suite. OBJECTIVE: We describe our experience with navigational software for pediatric percutaneous bone biopsies in the IR suite and compare technical success, diagnostic accuracy, radiation dose and procedure time with that of CT-guided biopsies. MATERIALS AND METHODS: Pediatric bone biopsies performed using navigational software (Syngo iGuide, Siemens Healthcare) from 2011 to 2016 were prospectively included and anatomically matched CT-guided bone biopsies from 2008 to 2016 were retrospectively reviewed with institutional review board approval. C-arm CT protocols used for navigational software-assisted cases included institution-developed low-dose (0.1/0.17 µGy/projection), regular-dose (0.36 µGy/projection), or a combination of low-dose/regular-dose protocols. Estimated effective radiation dose and procedure times were compared between software-assisted and CT-guided biopsies. RESULTS: Twenty-six patients (15 male; mean age: 10 years) underwent software-assisted biopsies (15 pelvic, 7 lumbar and 4 lower extremity) and 33 patients (13 male; mean age: 9 years) underwent CT-guided biopsies (22 pelvic, 7 lumbar and 4 lower extremity). Both modality biopsies resulted in a 100% technical success rate. Twenty-five of 26 (96%) software-assisted and 29/33 (88%) CT-guided biopsies were diagnostic. Overall, the effective radiation dose was significantly lower in software-assisted than CT-guided cases (3.0±3.4 vs. 6.6±7.7 mSv, P=0.02). The effective dose difference was most dramatic in software-assisted cases using low-dose C-arm CT (1.2±1.8 vs. 6.6±7.7 mSv, P=0.001) or combined low-dose/regular-dose C-arm CT (1.9±2.4 vs. 6.6±7.7 mSv, P=0.04), whereas effective dose was comparable in software-assisted cases using regular-dose C-arm CT (6.0±3.5 vs. 6.6±7.7 mSv, P=0.7). Mean procedure time was significantly lower for software-assisted cases (91±54 vs. 141±68 min, P=0.005). CONCLUSION: In our experience, navigational software technology in the IR suite is a promising alternative to CT guidance for pediatric bone biopsies providing comparable technical success and diagnostic accuracy with lower radiation dose and procedure time, in addition to providing real-time fluoroscopic needle guidance.
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Enfermedades Óseas/patología , Biopsia Guiada por Imagen/métodos , Programas Informáticos , Tomografía Computarizada por Rayos X/métodos , Biopsia con Aguja , Niño , Femenino , Fluoroscopía , Humanos , Masculino , Estudios Prospectivos , Dosis de Radiación , Interpretación de Imagen Radiográfica Asistida por Computador , Radiología Intervencionista , Estudios RetrospectivosAsunto(s)
Biopsia con Aguja/normas , Biopsia Guiada por Imagen/normas , Mejoramiento de la Calidad/normas , Indicadores de Calidad de la Atención de Salud/normas , Radiología Intervencionista/normas , Factores de Edad , Biopsia con Aguja/efectos adversos , Consenso , Humanos , Biopsia Guiada por Imagen/efectos adversos , Seguridad del Paciente/normas , Valor Predictivo de las Pruebas , Factores de RiesgoRESUMEN
BACKGROUND: In the pediatric population, obtaining venous access in high-risk neonates, severely ill children with cardiac anomalies or very young children (<10 kg) can be very challenging. In the literature to date, the greater saphenous vein has not been primarily used by interventional radiologists as an entry site for venous access in children. OBJECTIVE: To demonstrate the utility and effectiveness of using the greater saphenous vein as a venous access site for the placement of peripherally inserted central catheters in children. MATERIALS AND METHODS: This is a retrospective study from a large tertiary care children's hospital from November 2010 to August 2012. Peripheral insertion of central venous catheters (PICC) using the greater saphenous vein was attempted in 86 children ranging in age from 3 days to 17 years (mean: 1.8 years). Indications included congenital heart disease, urinary tract infection, intravenous access, pneumonia, meningitis, total parenteral nutrition, sepsis and other infections. All procedures were performed by interventional radiologists. No insertion-related complications were identified. There was no follow-up planning, but no mechanical or infectious complications were brought to our attention. RESULTS: Of the 86 patients in whom PICC placement was attempted, placement was successful in 67 (78%). Forty-two PICCs were placed in the greater saphenous vein at the thigh level using US guidance and 25 at the ankle level using anatomical landmarks. The mean weight of the 67 patients who underwent successful placement was 9.98 kg, with 51 (76%) weighing <10 kg. The mean vessel diameter in placement failures was 1.35 mm compared to 1.83 mm in successful placement. Inability to obtain venous access was the cause of failure in all thigh access sites while inability to advance the catheter centrally was the cause of failure for all ankle access sites. A total of 1,060 catheter days (with a maximum dwell time of 97 days in one patient) were reviewed without complication. CONCLUSION: In children, the greater saphenous vein provides a safe, suitable alternative for venous access, particularly in very young children (<10 kg) and in a select group of older children who are not mobile. In the lower extremities, greater saphenous venous puncture and access may be a preferred initial access site in small children to preserve future venous access.
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Cateterismo Venoso Central/métodos , Cateterismo Periférico/métodos , Radiografía Intervencional/métodos , Vena Safena/diagnóstico por imagen , Vena Safena/cirugía , Adolescente , Cateterismo Venoso Central/efectos adversos , Cateterismo Periférico/efectos adversos , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , MasculinoRESUMEN
Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype-phenotype associations and guide medical therapy in individuals with vascular anomalies.
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Anomalías Linfáticas , Malformaciones Vasculares , Humanos , Mutación , Pruebas Genéticas/métodos , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/genética , Malformaciones Vasculares/terapia , Alelos , Anomalías Linfáticas/genética , GenómicaRESUMEN
PURPOSE: Many novel therapies for relapsed and refractory neuroblastoma require tumor tissue for genomic sequencing. We analyze our experience with image-guided biopsy in these patients, focusing on safety, yield, adequacy for next-generation sequencing (NGS), and correlation of tumor cell percent (TC%) with quantitative uptake on 123I-meta-iodobenzylguanidine (MIBG) single-photon emission computed tomography with computed tomography (SPECT/CT). MATERIALS AND METHODS: An 11-year retrospective review of image-guided biopsy on 66 patients (30 female), with a median age of 8.7 years (range, 0.9-49 years), who underwent 95 biopsies (55 bone and 40 soft tissue) of relapsed or refractory neuroblastoma lesions was performed. RESULTS: There were seven minor complications (7%) and one major complication (1%). Neuroblastoma was detected in 88% of MIBG- or fluorodeoxyglucose-avid foci. The overall NGS adequacy was 69% (64% in bone and 74% in soft tissue, P = .37). NGS adequacy within neuroblastoma-positive biopsies was 88% (82% bone and 96% soft tissue, P = .11). NGS-adequate biopsies had a greater mean TC% than inadequates (51% v 18%, P = .03). NGS-adequate biopsies had a higher mean number of needle passes (7.5 v 3.4, P = .0002). The mean tissue volume from NGS-adequate soft-tissue lesions was 0.16 cm3 ± 0.12. Lesion:liver and lesion:psoas MIBG uptake ratios correlated with TC% (r = 0.74, r = 0.72, and n = 14). Mean TC% in NGS-adequate samples was 51%, corresponding to a lesion:liver ratio of 2.9 and a lesion:psoas ratio of 9.0. Thirty percent of biopsies showed an actionable ALK mutation or other therapeutically relevant variant. CONCLUSION: Image-guided biopsy for relapsed or refractory neuroblastoma was safe and likely to provide NGS data to guide therapy decisions. A lesion:liver MIBG uptake ratio of ≥ 3 or a lesion:psoas ratio of > 9 was associated with a TC% sufficient to deliver NGS results.