Congenital methemoglobinaemia due to Hb F-M-Fort Ripley in a preterm newborn.

Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of cytochrome b5 reductase are even rarer. We present a case of congenital methemoglobinaemia presenting at birth in a preterm infant. A baby boy born at 29 weeks and 3 days of gestation had persistent central cyanosis immediately after delivery, not attributable to a respiratory or cardiac pathology. Laboratory methemoglobin levels were not diagnostic. Cytochrome b5 reductase levels were normal and a newborn screen was unable to pick up any abnormal variants of fetal haemoglobin. Genetic testing showed a γ globin gene mutation resulting in the M haemoglobin, called Hb F-M-Fort Ripley. The baby had no apparent cyanosis at a corrected gestational age of 42 weeks. Although rare, congenital methaemoglobin aemia should be considered in the differential in a preterm with central cyanosis and investigated with genetic testing for γ globin chain mutations if other laboratory tests are non-conclusive.

Neuroblastoma involvement of the falx cerebri.

Involvement of the falx cerebri in infants with stage 4 neuroblastoma is thought to be rare. The falx is derived from the neural crest and thus may be a location for primary neuroblastoma. Its propensity for metastasis is unknown. Management of neuroblastoma in this location is potentially challenging. We describe two children less than 18 months of age who were successfully managed with chemotherapy alone (without radiation or surgery) for falx involvement with neuroblastoma.

Decision-making by adolescents and parents of children with cancer regarding health research participation.

BACKGROUND: Low rates of participation of adolescents and young adults (AYAs) in clinical oncology trials may contribute to poorer outcomes. Factors that influence the decision of AYAs to participate in health research and whether these factors are different from those that affect the participation of parents of children with cancer. METHODS: This is a secondary analysis of data from validated questionnaires provided to adolescents (>12 years old) diagnosed with cancer and parents of children with cancer at 3 sites in Canada (Halifax, Vancouver, and Montreal) and 2 in the United States (Atlanta, GA, and Memphis, TN). Respondents reported their own research participation and cited factors that would influence their own decision to participate in, or to provide parental authorization for their child to participate in health research. RESULTS: Completed questionnaire rates for AYAs and parents were 86 (46.5%) of 185 and 409 (65.2%) of 627, respectively. AYAs (n = 86 [67%]) and parents (n = 409 [85%]) cited that they would participate in research because it would help others. AYAs perceived pressure by their family and friends (16%) and their physician (19%). Having too much to think about at the time of accrual was an impediment to both groups (36% AYAs and 47% parents). The main deterrent for AYAs was that research would take up too much time (45%). Nonwhite parents (7 of 56 [12.5%]) were more apt to decline than white parents (12 of 32 [3.7%]; P < .01). CONCLUSIONS: AYAs identified time commitment and having too much to think about as significant impediments to research participation. Addressing these barriers by minimizing time requirements and further supporting decision-making may improve informed consent and impact on enrollment in trials.

Providing research results to participants: attitudes and needs of adolescents and parents of children with cancer.

PURPOSE: There is an increasing demand for researchers to provide research results to participants. Our aim was to define an appropriate process for this, based on needs and attitudes of participants. METHODS: A multicenter survey in five sites in the United States and Canada was offered to parents of children with cancer and adolescents with cancer. Respondents indicated their preferred mode of communication of research results with respect to implications; timing, provider, and content of the results; reasons for and against providing results; and barriers to providing results. RESULTS: Four hundred nine parents (including 19 of deceased children) and 86 adolescents responded. Most parents (n = 385; 94.2%) felt that they had a strong right to research results. For positive results, most wanted a letter or e-mail summary (n = 238; 58.2%) or a phone call followed by a letter (n = 100; 24.4%). If the results were negative, phone call (n = 136; 33.3%) or personal visits (n = 150; 36.7%) were preferred. Parents wanted the summary to include long-term sequelae and suggestions for participants (n = 341; 83.4%), effect on future treatments (n = 341; 83.4%), and subsequent research steps (n = 284; 69.5%). Understanding the researcher was a main concern about receiving results (n = 145; 35.5%). Parents felt that results provide information to support quality of life (n = 315; 77%) and raise public awareness of research (n = 282; 68.9%). Adolescents identified similar preferences. CONCLUSION: Parents of children with cancer and adolescents with cancer feel strongly that they have a right to be offered research results and have specific preferences of how and what information should be communicated.

Post-transplant lymphoproliferative disorder in an adolescent masquerading as a complicated primary EBV infection.

This report describes an adolescent girl with primary Epstein-Barr virus (EBV) infection in the setting of intensive immunosuppression for a cardiac transplant. She went on to develop progressive pain, weight loss and night sweats with necrosis of the tonsils over 8 weeks. The clinical impression was initially that of a complicated tonsillitis secondary to immune dysfunction. Biopsy 2 months after first presentation demonstrated diffuse B cell lymphoma consistent with post-transplant lymphoproliferative disorder (PTLD). We present this case to highlight the need for a high degree of clinical suspicion for PTLD in a population of patients who commonly experience primary exposure to EBV.

Use of alternative therapies by patients presenting to a pediatric emergency department.

Complementary and alternative medicine (CAM) is used by some patients to supplement their health care. Information on the use of CAM in children who are not chronically ill is sparse. We conducted a survey of caregivers presenting to a tertiary pediatric Emergency Department to determine CAM use in this population. Six hundred twenty questionnaires (77.6% of those distributed) were available for analysis. Approximately 13% of caregivers reported using CAM for their child. The most common CAM therapies used were homeopathy (20%), prayer/spiritual approaches (19.7%), and massage therapy (16.7%). Age of child greater than 1 year was associated with CAM use (p < 0.05), as was parental higher education (p < 0.0001). Income, ethnicity, parental age, and chronic illness were not correlated with CAM use. CAM therapies are infrequently used in pediatric patients presenting to the Emergency Department.

Disclosure of research results to research participants: A pilot study of the needs and attitudes of adolescents and parents.

BACKGROUND: Researchers have a moral responsibility to offer to return research results to participants, but the needs and attitudes of parents and adolescents with cancer in paediatric oncology regarding the issue are relatively unknown. OBJECTIVES: To explore the needs of potential research participants or their guardians with respect to the offer of a return of research results. METHODS: A questionnaire was used in a focus group and in telephone interviews with eight adolescents and 12 parents of children with cancer. The participants were asked to respond to the questions and to comment on the inclusiveness of the questionnaire. RESULTS: The majority of participants (18 of 20) wished to receive research results. Two somewhat unexpected findings are described. First, all participants in the present study felt that it was the primary responsibility of the participant to retain contact with the researchers for the purpose of obtaining research results. Second, few participants (n=2) indicated that the Internet would be a satisfactory way of transmitting these results. One-half of the participants wished to have face-to-face communication of results. CONCLUSIONS: These results provide preliminary guidance for the return of research results to participants and validate the use of the questionnaire in a larger study of this issue.