The vcop scale: A measure of overprotection in parents of physically vulnerable children

A scale is developed for measuring the overprotecting vs. optimal developmental stimulation tendencies for parents of physically “vulnerable” children. A series of items were administered to parents whose parenting techniques had been rated as either highly overprotective or as optimal by a group of MDs and other professionals. Correlations were estimated between each of the items and parental tendencies as rated by professionals. Twenty-eight items were selected that provided maximum prediction of overprotection. The resulting R² was extraordinarily high (.94). Coefficient alpha and test-retest coefficients were acceptable. It is hoped that release of the new instrument (VCOPS) at this time will allow others to join in determining the clinical and experimental validity of this scale.     

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

Variants in RORB have been reported in eight individuals with epilepsy, with phenotypes ranging from eyelid myoclonia with absence epilepsy to developmental and epileptic encephalopathies. We identified novel RORB variants in 11 affected individuals from four families. One was from whole genome sequencing and three were from RORB screening of three epilepsy cohorts: developmental and epileptic encephalopathies (n = 1021), overlap of generalized and occipital epilepsy (n = 84), and photosensitivity (n = 123). Following interviews and review of medical records, individuals' seizure and epilepsy syndromes were classified. Three novel missense variants and one exon 3 deletion were predicted to be pathogenic by in silico tools, not found in population databases, and located in key evolutionary conserved domains. Median age at seizure onset was 3.5 years (0.5-10 years). Generalized, predominantly absence and myoclonic, and occipital seizures were seen in all families, often within the same individual (6/11). All individuals with epilepsy were photosensitive, and seven of 11 had cognitive abnormalities. Electroencephalograms showed generalized spike and wave and/or polyspike and wave. Here we show a striking RORB phenotype of overlap of photosensitive generalized and occipital epilepsy in both individuals and families. This is the first report of a gene associated with this overlap of epilepsy syndromes.     

A soluble form of B cell maturation antigen, a receptor for the tumor necrosis factor family member APRIL, inhibits tumor cell growth

A proliferation-inducing ligand (APRIL) is a ligand of the tumor necrosis factor (TNF) family that stimulates tumor cell growth in vitro and in vivo. Expression of APRIL is highly upregulated in many tumors including colon and prostate carcinomas. Here we identify B cell maturation antigen (BCMA) and transmembrane activator and calcium modulator and cyclophilin ligand (CAML) interactor (TACI), two predicted members of the TNF receptor family, as receptors for APRIL. APRIL binds BCMA with higher affinity than TACI. A soluble form of BCMA, which inhibits the proliferative activity of APRIL in vitro, decreases tumor cell proliferation in nude mice. Growth of HT29 colon carcinoma cells is blocked when mice are treated once per week with the soluble receptor. These results suggest an important role for APRIL in tumorigenesis and point towards a novel anticancer strategy.     

A Multi-institutional Analysis of Duodenal Neuroendocrine Tumors: Tumor Biology Rather than Extent of Resection Dictates Prognosis

Introduction

Duodenal neuroendocrine tumors (NETs) are rare neoplasms with poorly defined management. We sought to evaluate the outcomes of patients undergoing resection of duodenal NETs.

Methods

Using a multi-institutional database, 146 patients who underwent resection for duodenal NETs between 1993 and 2015 were identified. Data on clinicopathologic characteristics and outcomes were collected and analyzed.

Results

Local surgical resection (LR) was performed in 57 (39.0 %) patients, while 50 (34.3 %) patients underwent pancreaticoduodenectomy (PD) and 39 (26.7 %) patients an endoscopic resection (ER). Factors associated with worse RFS included advanced tumor grade and metastasis at diagnosis (both P?<?0.05) but not procedure type (P?>?0.05). Among patients who had at least one lymph node examined (n?=?85), 50 (58.8 %) had a metastatic lymph node; lymph node metastasis (P?=?0.04) and advanced tumor grade (P?=?0.04) were more common among patients with tumors >1.5 cm. Median length-of-stay was longer for PD versus LR (P?<?0.001). PD patients were at increased risk for severe postoperative complications (P?=?0.01).

Conclusion

Recurrence of duodenal NETs was dependent on tumor biology rather than procedure type. PD was associated with a longer hospital stay and higher risk of perioperative complications. For patients with tumors ≤1.5 cm, LR or ER may be appropriate with PD reserved for larger lesions and those not amenable to a more local approach.

     

Translating Cancer Prevention and Control Research into the Community Setting: Workforce Implications

A gap exists between cancer prevention research and its translation into community practice. Two strategies to reduce this gap are community-based participatory research (CBPR) and dissemination research. CBPR offers an avenue to engage academic and community partners, thereby providing mechanisms for joint learning and application of knowledge. Dissemination research examines the movement of evidence-based public health and clinical innovations to practice settings. While applying these approaches may reduce the gap between research and practice, the cancer prevention workforce may be inadequate in size, insufficiently trained, lack resources and incentives, or face structural barriers to effectively participate in CBPR and disseminate evidence-based research findings into practice. Information on translating cancer prevention information to communities and workforce implications was obtained from a panel of experts and through a review of the literature on CBPR and dissemination research. The expert panel and literature review identified major barriers to successfully conducting CBPR and dissemination research in community settings. Barriers included inadequate policies; insufficient networking and communication infrastructures; unsupportive research cultures, climates, and mindsets; inadequate researcher and practitioner education; and limited CBPR and dissemination research with adequate study designs. No specific estimates of the cancer prevention workforce were found; however, indirect evidence for a shortfall were identified. We recommend expanding CBPR training for academic and community partners; increasing funding for dissemination research and practice; supporting proven partnerships; and providing strategic coordination for government agencies, research institutions, nongovernmental organizations, and the private sector to foster better dissemination of information and integration of community-based cancer prevention and control programs and practices. Specific challenges and needs that must be addressed to improve the translation of cancer prevention research into community settings were identified.     

Fever and neutropenia in pediatric hematopoietic stem cell transplant patients

The objective of this study was to identify patterns of fever and neutropenia in pediatric patients undergoing initial hospitalization for hematopoietic stem cell transplantation. A retrospective review of 75 HSCTs over a 4-year period at a single institution was performed, of which 68% were allogeneic and 32% were autologous. Stem cell sources included bone marrow (29%), PBSC (52%) and umbilical cord blood (16%). Fever occurred in 74 (98%) of the episodes. Unexplained fever (FUO) occurred in 43%. Bacteremia without an anatomic focus occurred in 29%, while CVC associated infections occurred in 17%. In 49% of transplants at least one blood culture was positive. The incidence of bacteremia was higher in allogeneic HSCTs (58%) than in autologous transplants (29%). Gram-positive bacteria accounted for 71% of the isolates. Lower rates of bacteremia were observed in patients receiving oral fluoroquinolone prophylaxis. The median duration of fever was 12.5 days and time to engraftment 14 days. Regression analysis demonstrated that duration of fever was strongly associated with time to engraftment, and that time to engraftment was associated with source of cells and number of CD34+ cells/kg administered. Recipients of autologous PBSC had the shortest durations of fever and time to engraftment, while recipients of allogeneic umbilical cord blood had the longest. Bone Marrow Transplantation (2000) 25, 59-65.     

Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia

This report describes unrelated umbilical cord blood transplantation for a 10-month-old infant boy with mucopolysaccharidosis IIB (Hunter syndrome), an X-linked metabolic storage disorder due to deficiency of iduronate sulfatase. Two years after transplant approximately 55% normal plasma enzyme activity has been restored and abnormal urinary excretion of glycosaminoglycans has nearly completely resolved. The boy has exhibited normal growth and development after transplant. Nine months after transplant he developed severe autoimmune hemolytic anemia and required 14 months of corticosteroid treatment to prevent clinically significant anemia. Bone marrow transplantation for Hunter syndrome and post-transplant hemolytic anemia are reviewed. Bone Marrow Transplantation (2000).     

Completion of upper endoscopic procedures despite paradoxical reaction to midazolam: a role for flumazenil?

Paradoxical excitation after benzodiazepine administration is well described. Although it is relatively uncommon, its occurrence can severely impede or even prevent the performance of upper endoscopy. We describe three cases in which paradoxical reactions to midazolam responded so well to flumazenil administration that the procedure was successfully completed in each instance. We review the limited literature on this topic and suggest that flumazenil may have greater utility in the management of this particular problem than is considered at present.     

Clinical spectrum of chronic interstitial lung disease in children.

To describe the clinical spectrum of interstitial lung disease in children, we reviewed our experience with 48 patients during a 12-year period. Most patients initially had typical findings of restrictive lung disease and hypoxemia. Growth failure or pulmonary hypertension or both were found in more than one third. Specific diagnosis, made in 35 patients (70%), most often required invasive studies, particularly open lung biopsy. Although the diagnostic yield from open lung biopsy was high, the diagnosis of many patients remained uncertain. Many different disorders were encountered. The response to corticosteroids, bronchodilators, and chloroquine was inconsistent. Six patients died, five within 1 year after the initial evaluation. The spectrum of pediatric interstitial lung disease includes a large, heterogeneous group of rare disorders associated with high morbidity and mortality rates.