Mutations in the RASA1 gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with RASA1 mutation presenting with hydrops fetalis and chylothorax, but without an associated AVM. Previously, researchers studying rodents have found chylothorax associated with RASA1 mutations, and, in previous case reports, researchers have reported on infants with RASA1 mutations born with hydrops fetalis and AVMs. In this report, we describe the case of a “late preterm” female infant born with nonimmune hydrops fetalis and congenital chylothorax who was detected to have a RASA1 deletion on genetic workup. Although classically described phenotypes of RASA1 mutations present with venous malformations, no such malformations were found in this infant on extensive imaging. This combination is a novel and nonclassic presentation of RASA1 mutation. In cases of congenital chylothorax, especially with nonimmune hydrops fetalis, RASA1 mutations should be considered as part of the differential diagnosis and genetic testing should be included as part of a complete workup to allow for screening for associated vascular anomalies.
Background and objectives: Hypoglycemia monitoring is not recommended for most full-term newborns. We wished to determine the incidence, presentation and case characteristics of hypoglycemia in low-risk newborns. Methods: With the assistance of the Canadian Paediatric Surveillance Program, we conducted a national study of severe hypoglycemia in apparently low-risk full-term newborns. Paediatricians who reported a case were sent a detailed questionnaire and the data were analyzed. Results: All 93 confirmed cases were singletons, 56% were first-borns and 65% were male. An 8% rate of First Nations cases was twofold the population rate. Maternal hypertension rate was 23%, fourfold the general pregnancy rate. Maternal obesity was double the general pregnancy rate at 23%. Concerning signs or feeding issues were noted in 98% at the time of diagnosis. Median time to diagnosis was 4.1 hours. Mean blood glucose at intravenous (IV) start was 1.4 ± 0.5 hours (SD). Seventy-eight per cent had at least one of four potential stress indicators and were more likely to have early diagnosis (P=0.03). Major signs were present in 20%. Those cases presented later and had lower glucose levels (median=0.8 mmol/L versus 1.6 mmol/L, [P<0.001). Twenty-five per cent of cases had birth weight less than the 10th centile. Neurodevelopmental concern was reported in 20%. Of the 13 cases which had brain magnetic resonance imaging, 11 were abnormal. Conclusion: Hypoglycemia in unmonitored newborns is uncommon but is associated with significant morbidity. We provide a range of clues to help identify these newborns soon after birth. Widespread adoption of norm-based standards to identify small-for-gestational age infants is supported.
Background The area of palliative care in pediatrics has been expanding, as evidence emphasizes the benefits of providing pediatric patients and their families with optimized care in cases of chronic illness and end-of-life. The majority of pediatric deaths occur in infants under one year, with significant portions of these deaths taking place in Neonatal Intensive Care Units (NICU). The expansion of palliative care into neonatal medicine is of significant importance, as symptom management and end-of-life care plays a vital role in providing complete care to these infants. Guidelines that have been put into place can vary significantly between centers. Published studies in neonatal palliative care (PC) describe these challenges, however little data currently exists specific to Canadian NICUs. Objectives The primary objective was to gather information about current practice trends and themes around barriers in neonatal PC. Design/Methods An anonymous survey was distributed to Canadian Level 3 NICU staff, including neonatologists, neonatal nurse practitioners (NP), and neonatal fellows through the Qualtrics platform. Surveys were distributed through email and responses tracked in the Qualtrics system. Results The survey response rate was 57. The majority of respondents were neonatologists (50%), with many having more than 5 years of experience. Provision of palliative care was common with 20/57 respondents being involved in 5 or more cases in the past year. Only 40% of respondents reported that neonatologists and neonatal NPs received palliative care training at their center. When education did exist, lectures (31%) and workshops (26%) were most common. 97% said their centre would benefit from more education. 53% of respondents said their center had an established guideline around neonatal PC, 20% did not know and 27% answered no. Only 8% of respondents who work at centres with a guideline found that it was consistently followed. Respondents were asked to identify barriers to implementation at their place of practice. Common responses noted challenges in NICU collaborations with maternal-fetal medicine and palliative care teams, as well as lack of education and providers’ personal beliefs. Lastly, respondents provided details of their guidelines or common practices in PC which has been collated and summarized. Conclusion The results provide a snapshot of the current palliative care practices in academic NICUs across Canada. Overall the results were positive with many centers having a guideline and some provider education. The perceived barriers highlight focus areas for future education and policy development, and emphasize the importance of improved collaboration moving forward.
Background: Approximately 95,000 Ontarians, including nearly 15,000 children, have a diagnosis of epilepsy (CCSO, 2015). Management is typically with medication, though surgical resection offers permanent cure in a subsection of patients. A 2012 Health Quality Ontario study estimated a potential 9,300 patients as surgical candidates, but only 150 operations are performed annually, suggesting the surgery option is underutilized. This study attempts to identify reasons for non-referral in a small epilepsy practice. Methods: Evidence based guidelines (Jette, N et al, CMAJ 2014) were used to define eligibility for surgical referral in 274 children with epilepsy. The presence of referral criteria was analyzed. Results: 22 children had clear evidence of drug resistance and one other criteria for referral for epilepsy surgery. 10 referrals had been made. Complex syndromes were present in 40% of the referrals, and 10% of the unreferred. Surgical lesions were present on MRI in 60% of the referrals and 14% of the unreferred. The majority of the unreferred have refractory focal epilepsy but no known surgical abnormality on MRI. Conclusions: In our practice there is a referral bias towards patients with MRI lesions, whereas those without MRI findings tend not to be referred, despite being refractory.
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