Caregiver perceptions of end-of-life care in patients with high-grade glioma.

BACKGROUND: Patients dying from high-grade gliomas (HGG) suffer from high symptom burden in the end-of-life (EoL) phase. Family caregivers are most informed about the patient's symptoms and disease course. The aim of this study is to assess caregiver perception on quality of EoL care of HGG patients. METHODS: Caregivers prospectively participated in the Toolkit After-Death Bereaved Family Member Interview, part of the Toolkit of Instruments to Measure End-of-Life Care (TIME survey). This validated survey assesses EoL care in areas such as physical comfort and emotional support, advance care planning, focus on the individual, attention to family, and coordination of care. The quality of EoL care was measured by domain scores (0 = care was always optimal, 1 = care was always suboptimal) or with a 0-10 scale. RESULTS: Of the 55 enrolled family caregivers, 44 completed the interview and rated the overall care high (8.90 ± 1.36/10), perceived that patients' wishes were respected (9.46 ± 0.95) and that they died in dignity (9.65 ± 0.98). Caregivers perceived high satisfaction with information and decision-making (0.18), advance care planning (0.19), focus on the individual (0.16), and care coordination (0.11). Attention to family (0.25) needed improvement. Only 41% of caregivers were confident that they knew what to do at the time of death and 46% felt that the healthcare team did not provide them with someone to turn to in distress. CONCLUSIONS: Caregivers reported high overall satisfaction with EoL HGG care, though attention to family and communication needed improvement. Focus should therefore be on improved caregiver communication to improve EoL care, caregiver burnout, and bereavement in HGG populations.

Brainstem Glioblastoma Multiforme in a Patient with NF1.

This case report presents the first known case of a brainstem glioblastoma multiforme (GBM) in a patient with neurofibromatosis type 1 (NF1). While research has proposed that larger germ-line mutations in NF1 may be the driving factor that predisposes patients with NF1 to high-grade astrocytomas, this patient had a nonsense mutation in the NF1 gene, suggesting a variant tumorigenesis. Limited data on targeted immunotherapy for NF1 patients with a GBM have been reported and more data are required before targeted therapies could be proven as second-line treatment options.

Pediatric Disorders of Orthostatic Intolerance.

Orthostatic intolerance (OI), having difficulty tolerating an upright posture because of symptoms or signs that abate when returned to supine, is common in pediatrics. For example, ∼40% of people faint during their lives, half of whom faint during adolescence, and the peak age for first faint is 15 years. Because of this, we describe the most common forms of OI in pediatrics and distinguish between chronic and acute OI. These common forms of OI include initial orthostatic hypotension (which is a frequently seen benign condition in youngsters), true orthostatic hypotension (both neurogenic and nonneurogenic), vasovagal syncope, and postural tachycardia syndrome. We also describe the influences of chronic bed rest and rapid weight loss as aggravating factors and causes of OI. Presenting signs and symptoms are discussed as well as patient evaluation and testing modalities. Putative causes of OI, such as gravitational and exercise deconditioning, immune-mediated disease, mast cell activation, and central hypovolemia, are described as well as frequent comorbidities, such as joint hypermobility, anxiety, and gastrointestinal issues. The medical management of OI is considered, which includes both nonpharmacologic and pharmacologic approaches. Finally, we discuss the prognosis and long-term implications of OI and indicate future directions for research and patient management.

A Putative Blood-Based Biomarker for Autism Spectrum Disorder-Associated Ileocolitis.

Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD). A significant proportion of children with ASD and gastrointestinal symptoms have histologic evidence of ileocolitis (inflammation of the terminal ileum and/or colon). We previously reported the molecular characterization of gastrointestinal biopsy tissue from ASD children with ileocolitis (ASDIC+) compared to anatomically similar inflamed tissue from typically developing children with inflammatory bowel disease (IBD; i.e. Crohn's disease or ulcerative colitis) and typically developing children with gastrointestinal symptoms but no evidence of gastrointestinal mucosal inflammation (TDIC-). ASDIC+ children had a gene expression profile that, while primarily overlapping with known IBD, had distinctive differences. The present study confirms these findings and replicates this molecular characterization in a second cohort of cases (ASDIC+) and controls (TDIC-). In these two separate case/control mucosal-based cohorts, we have demonstrated overlap of 59 differentially expressed transcripts (DETs) unique to inflamed ileocolonic tissue from symptomatic ASDIC+ children. We now report that 9 of these 59 transcripts are also differentially expressed in the peripheral blood of the second cohort of ASDIC+ children. This set of transcripts represents a putative blood-based biomarker for ASD-associated ileocolonic inflammation.

EUS and EUS-Guided Interventions Alter Clinical Management in Children With Digestive Diseases.

OBJECTIVES: Endoscopic ultrasound (EUS) ± fine needle aspiration (FNA) is a useful tool to evaluate gastrointestinal tract disorders in adults because of its established feasibility and safety. Its role in children has not been well established and continues to evolve. Our objective was to evaluate the utility and impact on clinical management of EUS and EUS-guided interventions in the pediatric population at our institution. METHODS: Retrospective, single-center study including 43 patients undergoing EUS and EUS-FNA between August 2005 and January 2012. RESULTS: Fifty-one EUS procedures were performed in 43 patients, 30 girls, median age 14.5 (range 4-18). The most common indications were suspected biliary obstruction in 11 of 51 (22%), pancreatic cysts in 10 of 51 (20%), acute or recurrent pancreatitis in 9 of 51 (18%), and abdominal pain in 8 of 51 (16%). The most common findings of EUS included normal 11 of 51 (22%), pancreas cyst 6 of 51 (12%), pancreatic pseudocyst 5 of 51 (10%), biliary system sludge or stones 9 of 51 (18%), and acute and chronic pancreatitis 5 of 51 (10%). EUS-FNA was performed in 13 cases: 7 solid masses or nodes, 4 pancreatic pseudocyst, 1 pancreatic cyst, and 1 celiac plexus block. FNA cyst drainage was successful in resolving all 4 pancreatic pseudocysts. EUS prompted a surgical procedure in 13 cases (25%), ERCP in 5 cases (10%), and repeat EUS in 5 cases (10%). EUS led to a new diagnosis in 34 of 43 (79%) patients and prompted further intervention in 24 of 51 (47%) procedures. CONCLUSIONS: In this large cohort study, we found that EUS and EUS-guided interventions assist in diagnosing and altering clinical management in pediatric patients and should be considered in cases with vexing pancreaticobiliary disorders.

Identification of unique gene expression profile in children with regressive autism spectrum disorder (ASD) and ileocolitis.

Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD) and are often associated with mucosal inflammatory infiltrates of the small and large intestine. Although distinct histologic and immunohistochemical properties of this inflammatory infiltrate have been previously described in this ASD(GI) group, molecular characterization of these lesions has not been reported. In this study we utilize transcriptome profiling of gastrointestinal mucosal biopsy tissue from ASD(GI) children and three non-ASD control groups (Crohn's disease, ulcerative colitis, and histologically normal) in an effort to determine if there is a gene expression profile unique to the ASD(GI) group. Comparison of differentially expressed transcripts between the groups demonstrated that non-pathologic (normal) tissue segregated almost completely from inflamed tissue in all cases. Gene expression profiles in intestinal biopsy tissue from patients with Crohn's disease, ulcerative colitis, and ASD(GI), while having significant overlap with each other, also showed distinctive features for each group. Taken together, these results demonstrate that ASD(GI) children have a gastrointestinal mucosal molecular profile that overlaps significantly with known inflammatory bowel disease (IBD), yet has distinctive features that further supports the presence of an ASD-associated IBD variant, or, alternatively, a prodromal phase of typical inflammatory bowel disease. Although we report qPCR confirmation of representative differentially expressed transcripts determined initially by microarray, these findings may be considered preliminary to the extent that they require further confirmation in a validation cohort.

Microlithiasis, endoscopic ultrasound, and children: not just little gallstones in little adults.

PURPOSE: Biliary microlithiasis is an uncommon but recognized cause of upper abdominal pain, cholecystitis, cholangitis, and pancreatitis in adults. Gallstones smaller than 3 mm may not be seen on transabdominal ultrasound and may only be seen on endoscopic ultrasound. This condition is poorly described in children. The aim of this study is to review the results of laparoscopic cholecystectomy to treat biliary microlithiasis in a pediatric case series. METHODS: We performed a retrospective case review of children with biliary microlithiasis who were treated with laparoscopic cholecystectomy. RESULTS: Three children were diagnosed with biliary microlithiasis. Two patients had recurrent right upper quadrant pain and nausea. A third patient had midepigastric pain and idiopathic pancreatitis. All 3 had a normal gallbladder on transabdominal ultrasound. Additional imaging with hepatobiliary scan, computed tomography, and magnetic resonance cholangiopancreatography revealed no biliary source for symptoms. Endoscopic ultrasound was performed on all 3 children, demonstrating microlithiasis of the gallbladder. Each child had a laparoscopic cholecystectomy with intraoperative cholangiogram. No abnormalities were seen on intraoperative cholangiogram. All 3 children had alleviation of pain and improvement of symptoms in postoperative follow-up. CONCLUSION: Children with biliary microlithiasis and associated clinical symptoms can be successfully treated with laparoscopic cholecystectomy. Endoscopic ultrasound should be considered in the evaluation of the child with clinical biliary symptoms and a negative transabdominal ultrasound result.

Outcomes of percutaneous endoscopic gastrostomy in children.

Percutaneous endoscopic gastrostomy (PEG) is a relatively safe and minimally invasive surgical method for providing enteral access in children. In pediatrics, the indications for PEG placement frequently include malnutrition or failure to thrive, as well as oropharyngeal dysphagia, especially in children with neurological impairment (NI). The risk for postoperative complications is low. However, among children with NI, gastroesophageal reflux disease (GERD) may necessitate fundoplication prior to gastrostomy tube placement. Preoperative pH probe testing has not been shown to be an effective screening tool prior to PEG placement among patients with GERD. Laparoscopic gastrostomy tube insertion was introduced in pediatric patients in an attempt to decrease complications associated with PEG. Although outcomes were reported to be similar to or better than PEG alone, future comparative studies are needed to better define the optimal patient demographic for this technique.

Outcome after percutaneous endoscopic gastrostomy in children and young adults.

BACKGROUND AND OBJECTIVES: Factors predicting outcome after percutaneous endoscopic gastrostomy (PEG) in large pediatric cohorts are not well defined. We hypothesized that definable preoperative clinical factors predict the need for further intervention to provide enteral access after PEG. Our aim was to identify factors associated with PEG outcome. MATERIALS AND METHODS: A retrospective review of 760 (407 boys and 353 girls) patients was performed after PEG at the Johns Hopkins Children's Center from 1994 to 2005. Logistic or multiple linear regression was used to analyze indication; diagnosis; age; prematurity; neurological impairment; weight-for-age z scores; modified barium swallow; postoperative complications; need for fundoplication (FP), gastrojejunal tube, or jejunostomy; and length of hospital stay. RESULTS: The median age was 1 year (range 0-26 years). The most common indications given for PEG were failure to thrive (n = 373) and dysphagia (n = 27). Postoperative FP, gastrojejunal tube, or jejunostomy were performed in 66 (10%), 24 (4%), and 9 (1%) patients, respectively. Preoperative report indicated that dysphagia and direct aspiration on modified barium swallow was strongly associated with patients undergoing FP after PEG, 10.6% of patients (P = 0.008, odds ratio 2.4) and 11.2% of patients (P = 0.013, odds ratio 2.8), respectively. Younger preoperative age was also associated with the need for FP (P = 0.0006; median age of 5.8 vs 14 months). Patients with preoperative dysphagia had a longer median length of hospital stay: 8 versus 3 days (P < 0.00001). Patients with neurological impairment demonstrated greater weight gain than neurologically normal patients after PEG (P = 0.04). Minor postoperative complications (most commonly wound infection) were observed in 4% (27/747) of children before hospital discharge from PEG and in 20% of children (138/682) after discharge. There were only 2 major complications (gastric separation and gastrocolonic fistula.). There were no fatalities. CONCLUSIONS: Preoperative diagnosis, indication, prematurity, and neurological impairment did not influence postoperative complications.

The limitations of gastro-jejunal (G-J) feeding tubes in children: a 9-year pediatric hospital database analysis.

BACKGROUND: A gastro-jejunal (G-J) feeding tube is a safe and useful temporizing method of providing enteral access in children. Although G-J tubes are often used to obviate the need for a surgical jejunostomy, their long-term use is often associated with mechanical failure. AIM: To review the clinically effective durability of G-J feeding tubes in providing enteral access in children. METHODS: We performed a retrospective review of 102 patients at the Johns Hopkins Children's Center from 1994-2003 whose underlying diagnosis necessitated the need for postpyloric enteral access. RESULTS: Long-term follow-up was obtained in 85 (48 M; 37 F) patients with a median (range) age of 2.0 (0.1-18.0) yr. The most common indication for G-J tube placement was gastroesophageal reflux with aspiration in 51 patients and feeding intolerance and vomiting in 19 patients. The mean (range) number of tube replacements was 2.2 (1-14) over a median (range) duration of follow-up of 39 (2-474) days. The indication for G-J tube replacement included: tube displacement (58), a clogged tube (41), and a cracked tube or ruptured balloon (35). In 52 cases, the cause for G-J tube replacement was undetermined. CONCLUSIONS: G-J feeding tubes are associated with the frequent need for tube maintenance and replacement and may not be the most feasible clinical option in providing long-term (>1 month) enteral access in children intolerant to gastrostomy tube feeds. Future studies are needed to develop innovative percutaneous jejunostomy tube placement techniques that facilitate long-term enteral access.