Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.

Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically. Thirteen siblings have copy number variants (CNVs) involving ASD-relevant genes: 6 with ASD, 5 atypically developing, and 2 typically developing. Within these families, an ASD-related CNV in a sibling has a positive predictive value (PPV) for ASD or atypical development of 0.83; the Simons Simplex Collection of ASD families shows similar PPVs. Polygenic risk analyses suggest that common genetic variants may also contribute to ASD. CNV findings would have been pre-symptomatically predictive of ASD or atypical development in 11 (7%) of the 157 BSRC siblings who were eventually diagnosed clinically.

Superselective microcoil embolization of colonic hemorrhage.

OBJECTIVE: We evaluated therapeutic microcoil embolization in a group of patients with severe colonic hemorrhage. MATERIALS AND METHODS: Twenty-seven patients with severe colonic bleeding due to diverticular disease (n = 19), angiodysplasia (n = 6), cecal ulcer (n = 1), or unknown cause (n = 1) underwent attempted microcoil embolization (n = 25). Microcatheters were used in all procedures, and embolization was performed at the level of the vasa recta or the marginal artery of Drummond. Branches of the superior mesenteric artery were embolized in 12 patients, branches of the inferior mesenteric artery were embolized in 12 patients, and branches of both the superior and inferior mesenteric arteries were embolized in one patient. RESULTS: Technical success was achieved in 93% (25/27) of the procedures. However, immediate hemostasis occurred in 96% (26/27) of patients because in one failed procedure, an occlusive dissection of the inferior mesenteric artery arrested bleeding. Three patients rebled within 24 hr. One patient was treated with endoscopic cauterization, and two patients underwent right hemicolectomy. One patient who underwent right hemicolectomy for rebleeding had ischemic changes found on pathologic analysis of the resected specimen, and a second patient who underwent embolization of branches of the superior and inferior mesenteric arteries developed bowel infarction requiring left hemicolectomy. Prolonged clinical success occurred in 81% (22/27) of patients. CONCLUSION: Therapeutic microcoil embolization for severe colonic hemorrhage is an effective and well-tolerated procedure.

Comparison of balloon- and mushroom-retained large-bore gastrostomy catheters.

OBJECTIVE: We conducted a retrospective study to evaluate two different types of percutaneous fluoroscopic gastrostomy procedures and catheters. MATERIALS AND METHODS: Between July 8, 1999, and August 4, 2000, 80 percutaneous gastrostomy catheters were placed in 80 patients in 80 attempts. Twenty-five 16-, 18-, or 20-French balloon-retained catheters and 55 20-French mushroom-retained catheters were inserted. Typically, the type of catheters placed was based on operator preference. However, balloon-retained tubes were preferred for use in patients with obstructive head and neck or esophageal malignancies, and mushroom-retained catheters were preferred for use in demented or combative patients. Follow-up was conducted through chart reviews and telephone interviews. The technical success, procedural complications, and catheter complications were recorded. Chi-square statistical analysis was performed. RESULTS: Technical success was 100% (80/80 patients), and no procedural complications occurred. In patients who received balloon-retained catheters, the major complication rate was 0%, the minor complication rate was 8% (2/25 patients), and the tube complication rate was 68% (17/25 patients). The following complications occurred: catheter dislodgment (n = 17), superficial cellulitis (n = 1), and bleeding gastric ulcer (n = 1). In patients who received mushroom-retained catheters, the major complication rate was 0%, the minor complication rate was 3.6% (2/55 patients), and the tube complication rate was 3.6% (2/55 patients). The following complications occurred: superficial cellulitis (n = 2), tube occlusion (n = 1), and peristomal tube leakage (n = 1). No significant differences in major or minor complications were found between the gastrostomy procedures. Balloon-retained catheters had a significantly higher rate of tube complications (p < 0.001). CONCLUSION: Compared with balloon-retained catheters, mushroom-retained gastrostomy catheters are significantly more durable, more secure, and less prone to tube dysfunction. Mushroom-retained catheters should be the preferred type of gastrostomy catheter to place in patients whenever possible.

Metallic stents deployed in synthetic arteriovenous hemodialysis grafts.

OBJECTIVE: The purpose of our study was to review the success of metallic stent treatment of intragraft stenoses in patients with synthetic arteriovenous hemodialysis grafts. MATERIALS AND METHODS: Between May 1993 and May 1997, 19 metallic stents were placed in 11 patients (seven women, four men; age range, 41-83 years) to treat elastic intragraft stenoses or graft dissections. Before stent placement, all patients had experienced multiple episodes of graft thrombosis, had very limited vascular access for hemodialysis, and were considered poor surgical candidates. RESULTS: The technical success rate was 100%, and there were no procedural complications. Using life-table analysis, we found primary patency to be 36% at 6 months after stent placement, 12% at 12 months, and 12% at 18 months. Secondary patency was 91% at 6 months after stent placement, 71% at 12 months, and 47% at 18 months. The mean and median patencies per intervention were 4.2 and 3.6 months, respectively. Mean and median secondary graft patencies were both 14 months (range, 3 days-32 months). Puncture through the stents occurred during dialysis, causing stent distortion and fracture. Eight stents had a linear fracture suggesting compression contributed to the stent distortion. No clinically evident complications related to stent placement occurred. CONCLUSION: Metallic stent deployment can salvage access in synthetic arteriovenous grafts by alleviating intragraft stenoses. Patency of intragraft stents is similar to venous stents used to treat other hemodialysis-related stenoses; however, fracture of Wall-stents occurs with prolonged graft use, especially in areas of needle punctures.

Sonographic needle guidance in cholangiography in children.

PURPOSE: To evaluate feasibility and benefits of sonographic guidance of percutaneous transhepatic cholangiography (PTC) in children with liver transplants. MATERIALS AND METHODS: The authors prospectively followed 24 PTC procedures in 19 pediatric patients (11 females, 8 males; age 3 months to 17 years) randomized to fluoroscopic or sonographic guidance. The number of needle passes, the contrast material dose, fluoroscopy time, and procedure time for each procedure were recorded. All patients were transplant recipients-six whole and 13 reduced-size grafts. Cases were randomly assigned to two groups: group I, fluoroscopically guided PTC (12 procedures); group II, sonographically guided PTC (12 procedures). RESULTS: The technical success rate was 92% (11 of 12) for each group. In group I, there were two procedure-related complications: postprocedural fever caused by biliary to portal vein fistula, and peritoneal bleeding requiring surgery. In group II, there were no procedure-related complications. A mean of 8.2 +/- 3.7 needle passes were required in group I compared to only 2.0 +/- 1.3 in group II (P < .0001). A mean contrast material dose of 19.5 mL +/- 13.4 was required in group I compared to only 2.5 mL +/- 1.9 in group II (P < .001). A mean procedure time of 15.7 minutes +/- 7.4 was required in group I compared to only 6.1 minutes +/- 4.5 in group II (P < .001). A mean fluoroscopy time of 10.4 minutes +/- 5.0 was required in group I compared to only 1.0 minutes +/- 0.7 in group II (P < .0001). CONCLUSION: In pediatric patients who have undergone liver transplantation, sonographic guidance significantly decreases the number of needle passes, contrast material dose, and fluoroscopy time required for PTC.

Radiologic placement of implantable chest ports in pediatric patients.

OBJECTIVE: We evaluated the technical success and complications associated with radiologic placement of implantable chest ports in children for long-term central venous access. MATERIALS AND METHODS: Between May 1, 1996 and January 11, 2000, 29 chest ports were placed in 28 children (15 girls, 13 boys; age range, 2-17 years; mean, 11.7 years). The patient's right internal jugular vein was used for access in 93% (27/29) of the procedures, and a collateral neck vein was used as a conduit to recanalize the central veins in two procedures because of bilateral jugular and subclavian vein occlusion. All procedures were performed in interventional radiology suites. Both real-time sonography and fluoroscopy were used to guide venipuncture and port insertion. Follow-up data were obtained through the clinical examination and electronic review of charts. RESULTS: Technical success was 100%. Fourteen percent of the catheters were removed prematurely, including one catheter removed 17 days after placement because the patient's blood cultures were positive for Candida albicans. No patients experienced hematoma, symptomatic air embolism, symptomatic central venous thrombosis, catheter malposition, or pneumothorax. The median number of days for catheter use by patients was 280 days (total, 9043 days; range, 17-869 days). The rate of confirmed catheter-related infection was 14% or 0.04 per 100 venous access days. One catheter occluded after 132 days. CONCLUSION: In pediatric patients, radiologists can insert implantable chest ports using real-time sonographic and fluoroscopic guidance with high rates of technical success and low rates of complication.

Radiologic placement of tunneled hemodialysis catheters in occluded neck, chest, or small thyrocervical collateral veins in central venous occlusion.

PURPOSE: To evaluate interventional radiologic placement of tunneled hemodialysis catheters in small thyrocervical collateral veins or in occluded veins in the neck or chest in patients with limited venous access. MATERIALS AND METHODS: A femoral venous approach was used to recanalize occluded veins or catheterize small collateral veins in 24 patients in whom all major central veins were occluded. A loop snare or catheter was used as a target for antegrade puncture. Metallic stents were deployed if necessary. Once antegrade access was secured, catheters were placed in a conventional fashion. RESULTS: Technical success was achieved in 22 (88%) of 25 procedures (one patient underwent two procedures). All catheters functioned immediately after placement. There were two procedural complications: a vasovagal episode requiring intravenously administered atropine sulfate and an episode of respiratory distress requiring intubation. There were no instances of pneumothorax, nerve injury, or bleeding complications. Catheter malfunction requiring exchange occurred at a rate of 0.67 per 100 catheter days. Infection requiring catheter removal occurred at a rate of 0.06 per 100 catheter days. Primary patency was 90% at 1 month, 71% at 6 months, and 25% at 12 months. Secondary patency was 100% at 6 months and 70% at 12 months. CONCLUSION: In patients undergoing hemodialysis in whom conventional venous access sites have been exhausted, interventional radiologic venous recanalization for the placement of permanent catheters is safe and effective. Catheters placed in recanalized veins or small collateral veins have shorter primary patency rates compared with those of conventionally placed catheters, but the former can be maintained for relatively long periods.

Percutaneous transhepatic cholangiography and biliary drainage in pediatric liver transplant patients.

OBJECTIVE: In children with liver transplants, percutaneous transhepatic cholangiography has a critical role in evaluation and treatment of biliary complications. The purpose of this study was to evaluate the technical success and complication rates of percutaneous transhepatic cholangiography and biliary drain placement in children who underwent liver transplantation. MATERIALS AND METHODS: Between January 1, 1995 and July 1, 1999, 120 pediatric percutaneous transhepatic cholangiography procedures were performed in 76 patients (34 boys, 42 girls; age range, 5 months to 18 years; mean age, 5.3 years). Patients had received left lateral segment, whole-liver, or split-liver transplant grafts. Retrospective review of all pertinent radiology studies and electronic chart review were performed. RESULTS: A diagnostic cholangiogram was obtained in 96% (115/120) of all procedures and drainage catheter placement was successful in 89% (88/99) of attempts. In patients with nondilated intrahepatic bile ducts, a diagnostic cholangiogram was obtained in 92% (46/50) of procedures, and drainage catheter placement was successful in 76% (19/25) of attempts. Minor complications occurred in 10.8% (13/120) of procedures and included transient hemobilia with mild drop in hematocrit level (n = 2), mild pancreatitis (n = 1), fever with bacteremia (n = 5), and fever with negative blood cultures (n = 5). Major complications occurred in 1.7% (2/120) of procedures and included sepsis (n = 1) and hemoperitoneum requiring immediate surgery (n = 1). CONCLUSION: Percutaneous transhepatic cholangiography and biliary drainage can be performed with high technical success and low complication rates in pediatric liver transplant patients, even in those with nondilated intrahepatic ducts.

Radiologic gastrostomy placement: pigtail- versus mushroom-retained catheters.

OBJECTIVE: Two different types of percutaneous fluoroscopic gastrostomy procedures were prospectively evaluated. SUBJECTS AND METHODS: Between January 1, 1998, and August 10, 1999, 127 percutaneous gastrostomy catheters were placed in 128 patients in 128 attempts. Seventy-five 12- or 14-French pigtail-retained catheters and fifty-two 20-French mushroom-retained catheters were inserted. Catheters were generally placed on the basis of operator preference except pigtail-retained tubes were preferentially placed in patients with head and neck or esophageal malignancies and mushroom-retained catheters were preferentially placed in neurologically compromised or combative patients. The technical success, procedural complications, and catheter complications were recorded. Statistical analysis was performed. RESULTS: Ninety-nine percent (127/128) of the procedures were successful, and there were no procedural complications. One catheter was not placed because the colon intervened between the abdominal wall and stomach. In patients who received pigtail-retained catheters, the major complication rate was 3% (2/75), the minor complication rate was 8% (6/75), and the tube complication rate was 36% (27/75). The following complications were seen: tube occlusion (n = 12), inadvertent catheter removal (n = 8), peristomal tube leakage (n = 7), superficial cellulitis (n = 4), aspiration pneumonia (n = 2), and T-fastener cellulitis (n = 2). In patients who received mushroom-retained catheters, the major complication rate was 0%, the minor complication rate was 2% (1/52), and the tube complication rate was 2% (1/52). Complications were superficial cellulitis (n = 1) and partial catheter fracture (n = 1). There were no significant differences in major and minor complications between procedures. Pigtail-retained catheters had a significantly higher rate of tube complications (p < 0.001) CONCLUSION: Compared with pigtail-retained catheters, mushroom-retained gastrostomy catheters are more durable and secure and are less prone to tube dysfunction. These catheters should be preferentially placed when possible.

Percutaneous treatment of portal venous stenosis in children and adolescents with segmental hepatic transplants: long-term results.

PURPOSE: To evaluate the long-term effectiveness of the percutaneous treatment of portal venous stenoses in children and adolescents with reduced-size hepatic transplants. MATERIALS AND METHODS: During the past 5 years, percutaneous transhepatic balloon venoplasty was attempted in 25 children and adolescents with anastomotic portal venous stenoses that occurred after reduced-size hepatic transplantation. All procedures were performed with direct puncture of the intrahepatic portal vein and with subsequent balloon dilation. Intravascular stents were deployed in patients with suboptimal results after dilation or with recurrent stenoses. RESULTS: Percutaneous venoplasty was technically successful in 19 of 25 patients. In the remaining six patients, portal venous occlusion precluded access to the extrahepatic portal vein. Intravascular stents were deployed in 12 patients for "elastic" (n = 5) or recurrent (n = 7) stenoses. Seven patients who underwent successful venoplasty without stent placement have required no further intervention. All stents have remained patent without further intervention. Portal venous patency has been maintained for 5-61 months (mean time, 46 months) in all 19 patients. CONCLUSION: Percutaneous treatment of portal venous stenoses is effective and long lasting in children with reduced-size hepatic transplants. In patients with elastic or recurrent lesions, portal venous stents have excellent long-term primary patency despite continued patient growth. Successful, percutaneous transhepatic venoplasty eliminates the need for surgical revision, portacaval shunting, or repeat transplantation.

Percutaneous biliary drainage in patients with nondilated intrahepatic bile ducts.

OBJECTIVE: We evaluated the technical success and complications of percutaneous transhepatic biliary drainage in patients with nondilated intrahepatic bile ducts. MATERIALS AND METHODS: Between January 1, 1996, and August 31, 1998, 130 percutaneous transhepatic biliary drainage procedures were performed on patients with nondilated intrahepatic bile ducts. This group comprised primarily patients who had received liver transplants or who had sustained iatrogenic bile duct injuries. Access in all procedures was performed using a one-step system consisting of a 21-gauge needle and an .018-inch guidewire. The technical success and complications of the procedures were evaluated. RESULTS: Percutaneous biliary drainage was successful in 117 (90%) of 130 attempts. In four patients, two attempts were required to place a drainage catheter. The overall complication rate was 9%. There were seven (5%) minor complications and five major complications (4%). No procedure-related deaths occurred. CONCLUSION: Percutaneous biliary drainage can be performed with a high success rate in patients with nondilated intrahepatic ducts. The incidence and types of complications in this population were similar to those reported in patients with intrahepatic ductal dilatation.

Exchange of poorly functioning tunneled permanent hemodialysis catheters.

OBJECTIVE: The usefulness of exchanging poorly functioning tunneled permanent hemodialysis catheters in patients with end-stage renal disease was evaluated. MATERIALS AND METHODS: We retrospectively reviewed case histories of 51 consecutive patients who underwent 88 catheter exchanges because of poor flow rates. All hemodialysis catheters were initially placed by the radiology service using image guidance. Catheter exchanges were performed through the existing subcutaneous tract over two stiff hydrophilic guidewires and without additional interventions such as fibrin sheath stripping or venoplasty. Life table analysis was performed to evaluate catheter patency rates after initial placement (primary patency) and after multiple exchanges (secondary patency). RESULTS: The technical success rate for hemodialysis catheter exchange was 100%. Primary catheter patency was 42% at 60 days and 16% at 120 days. Secondary patency was 92% at 60 days and 82% at 120 days. The cumulative infection rate was 1.1 per 1000 catheter days. No complications from the procedure occurred. CONCLUSION: Catheter exchange is an effective means of prolonging catheter patency in patients with end-stage renal disease and limited central venous access.

Treatment of venous outflow stenoses in thigh grafts with Wallstents.

OBJECTIVE: We studied the effectiveness of Wallstent deployment to treat elastic femoral and iliac vein stenoses in patients with lower extremity hemodialysis grafts. MATERIALS AND METHODS: Between August 31, 1992, and October 13, 1997, 44 metallic stents were deployed in 20 patients to treat stenoses exhibiting immediate, significant elastic recoil after angioplasty. Twenty-four stents were placed in the femoral and saphenous veins, and the remaining 20 stents were placed in the iliac veins. Follow-up was provided by the nephrology and surgical service at our institution and by electronic review of patients' charts. The follow-up period was from August 31, 1992, until October 1, 1998. RESULTS: Stents were successfully inserted and stenotic lesions dilated in 100% of procedures. Each patient successfully completed at least one session of dialysis after the procedure. The primary patency rate of stents was 87% 60 days after the procedure, 51% 180 days after, 39% 1 year after, and 20% 2 years after. The secondary patency rate was 95% 60 days after the procedure, 92% 180 days after, 81% 1 year after, and 62% 2 years after. Complications were limited to two graft infections that developed 5 and 7 days after stent placement. CONCLUSION: Treatment of elastic venous stenoses is effective in patients with lower extremity dialysis grafts using metallic stents. The patency rates of these devices placed in the iliac and femoral veins are comparable with those of metallic stents placed in upper extremity and central veins.

Holmium: YAG laser endoureterotomy in the treatment of ureteroenteric strictures following orthotopic urinary diversion.

The management of ureteroenteric strictures in patients who have undergone urinary diversion can be challenging. In those patients with an orthotopic neobladder, anastomotic ureteral strictures can be treated endoscopically using a retrograde or antegrade approach. The availability of small (7.5F) flexible ureteroscopes, as well as the use of the Holmium laser has facilitated the ability to precisely incise the stricture under direct endoscopic visualization (endoureterotomy). We describe our technique for laser endoureterotomy in patients with ureteroenteric strictures following orthotopic urinary diversion.

Experience with tunneled femoral hemodialysis catheters.

OBJECTIVE: The purpose of this study was to evaluate the use and complication rate of tunneled femoral hemodialysis catheters placed in patients with no remaining thoracic venous access sites. MATERIALS AND METHODS: Over a 3-year period, 41 tunneled femoral vein catheters (35 right, six left) were placed in 21 patients (15 women, six men; 21-89 years old; mean, 52 years). Catheters ranged in length from 40 to 60 cm. Tips were positioned immediately above the iliac bifurcation, at the mid inferior vena cava (IVC), or at the junction of the IVC and right atrium. Catheters were exchanged through the existing tract if the flow rate decreased to less than 200 ml/min. Catheters were removed if an episode of bacteremia did not resolve with antibiotics or if the insertion site became infected. RESULTS: Technical success of placement was 100%. The 30-, 60-, and 180-day primary patency rates were 78%, 71%, and 55%, respectively. The 30-, 60-, and 180-day secondary patency rates were 95%, 83%, and 61%, respectively. Average time of function per intervention was 61 days. Infections requiring catheter removal occurred at a rate of 2.4 per 1000 catheter days. One episode of partial IVC thrombosis occurred after a catheter infection developed 78 days after initial catheter placement. No episodes of symptomatic pulmonary embolism occurred. Total length of follow-up was 2506 catheter days. CONCLUSION: Femoral vein catheters require more frequent interventions than do thoracic catheters and are more susceptible to infection. However, in patients with difficult central venous access, the common femoral vein may be successfully used for permanent tunneled hemodialysis access.

Treatment of inferior vena cava obstruction in hemodialysis patients using Wallstents: early and intermediate results.

OBJECTIVE: The purpose of this study was to evaluate the efficacy of Wallstents in treating inferior vena cava obstruction in hemodialysis patients. CONCLUSION: For the short and intermediate term, percutaneous placement of inferior vena cava Wallstents, followed by balloon angioplasty, is a safe and valuable technique for preserving the often limited central venous access in hemodialysis patients. To maintain patency, recurrent stenosis within the Wallstent can be treated with additional angioplasty.

Scintigraphic screening prior to visceral arteriography in acute lower gastrointestinal bleeding.

UNLABELLED: We evaluated the effect on the diagnostic yield of visceral arteriography in patients with acute gastrointestinal bleeding of a protocol requiring a positive 99mTc-red blood cell scintiscan before the performance of arteriography (scintigraphic screening). METHODS: A retrospective review was conducted of 249 scintiscans and 271 arteriograms obtained over 99 mo, with scintigraphic screening implemented during the final 18 mo. RESULTS: Before the implementation of scintigraphic screening, arteriograms detected bleeding at a rate of 22%. After its implementation, 53% of the arteriograms detected bleeding. This represented a statistically significant increase (0.53 versus 0.22, p = 0.015). CONCLUSION: Scintigraphic screening appears to increase by a factor of 2.4 the diagnostic yield of arteriography by screening out patients who are not actively bleeding at the time of the examination, thus sparing them the risks and costs of a nondiagnostic invasive study.