Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Non-immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy. This report describes a dichorionic diamniotic pregnancy for a consanguineous couple where noninvasive prenatal testing was "high risk" for Trisomy 21. Family declined amniocentesis and opted for postnatal genetic testing. The pregnancy was later complicated with severe hydrops fetalis leading to demise for one of the twins, and a premature delivery of the other twin who had remarkable collodion not in keeping with Trisomy 21. Postnatal genetic investigations confirmed both Trisomy 21 and prenatal lethal Gaucher disease in the survivor twin. This case report highlights some of the prenatal diagnostic challenges for a consanguineous couple where a rare cause of fetal hydrops was concealed in a setting of a common chromosomal aneuploidy. The prompt postnatal diagnosis of perinatal lethal Gaucher disease, confirmed with undetectable glucocerebrosidase enzyme activity, assisted the family in the decision of providing palliative care for their infant who was quickly deteriorating. The importance of postnatal genetic evaluation and its impact on immediate patient management in an NICU setting is emphasized. This dual diagnosis was significant for the couple as it explained pervious pregnancy losses and has important future recurrence risk implications.

Parent-Integrated Interventions to Improve Language Development in Children Born Very Preterm.

Neurodevelopmental challenges in children born very preterm are common and not improving. This study tested the feasibility of using Evidence-based Practice to Improve Quality (EPIQ), a proven quality improvement technique that incorporates scientific evidence to target improving language abilities in very preterm populations in 10 Canadian neonatal follow-up programs. Feasibility was defined as at least 70% of sites completing four intervention cycles and 75% of cycles meeting targeted aims. Systematic reviews were reviewed and performed, an online quality improvement educational tool was developed, multidisciplinary teams that included parents were created and trained, and sites provided virtual support to implement and audit locally at least four intervention cycles of approximately 6 months in duration. Eight of ten sites implemented at least four intervention cycles. Of the 48 cycles completed, audits showed 41 (85%) met their aim. Though COVID-19 was a barrier, parent involvement, champions, and institutional support facilitated success. EPIQ is a feasible quality improvement methodology to implement family-integrated evidence-informed interventions to support language interventions in neonatal follow-up programs. Further studies are required to identify potential benefits of service outcomes, patients, and families and to evaluate sustainability.

Use of Electronic Health Record Data for Drug Safety Signal Identification: A Scoping Review.

INTRODUCTION: Pharmacovigilance programs protect patient health and safety by identifying adverse event signals through postmarketing surveillance of claims data and spontaneous reports. Electronic health records (EHRs) provide new opportunities to address limitations of traditional approaches and promote discovery-oriented pharmacovigilance. METHODS: To evaluate the current state of EHR-based medication safety signal identification, we conducted a scoping literature review of studies aimed at identifying safety signals from routinely collected patient-level EHR data. We extracted information on study design, EHR data elements utilized, analytic methods employed, drugs and outcomes evaluated, and key statistical and data analysis choices. RESULTS: We identified 81 eligible studies. Disproportionality methods were the predominant analytic approach, followed by data mining and regression. Variability in study design makes direct comparisons difficult. Studies varied widely in terms of data, confounding adjustment, and statistical considerations. CONCLUSION: Despite broad interest in utilizing EHRs for safety signal identification, current efforts fail to leverage the full breadth and depth of available data or to rigorously control for confounding. The development of best practices and application of common data models would promote the expansion of EHR-based pharmacovigilance.

International Consensus Statement on Obstructive Sleep Apnea.

BACKGROUND: Evaluation and interpretation of the literature on obstructive sleep apnea (OSA) allows for consolidation and determination of the key factors important for clinical management of the adult OSA patient. Toward this goal, an international collaborative of multidisciplinary experts in sleep apnea evaluation and treatment have produced the International Consensus statement on Obstructive Sleep Apnea (ICS:OSA). METHODS: Using previously defined methodology, focal topics in OSA were assigned as literature review (LR), evidence-based review (EBR), or evidence-based review with recommendations (EBR-R) formats. Each topic incorporated the available and relevant evidence which was summarized and graded on study quality. Each topic and section underwent iterative review and the ICS:OSA was created and reviewed by all authors for consensus. RESULTS: The ICS:OSA addresses OSA syndrome definitions, pathophysiology, epidemiology, risk factors for disease, screening methods, diagnostic testing types, multiple treatment modalities, and effects of OSA treatment on multiple OSA-associated comorbidities. Specific focus on outcomes with positive airway pressure (PAP) and surgical treatments were evaluated. CONCLUSION: This review of the literature consolidates the available knowledge and identifies the limitations of the current evidence on OSA. This effort aims to create a resource for OSA evidence-based practice and identify future research needs. Knowledge gaps and research opportunities include improving the metrics of OSA disease, determining the optimal OSA screening paradigms, developing strategies for PAP adherence and longitudinal care, enhancing selection of PAP alternatives and surgery, understanding health risk outcomes, and translating evidence into individualized approaches to therapy.

Neonatal stabilization in Canada: Updates to acute care of at-risk newborns (ACoRN) practices and programming.

Disparities in preterm birth and neonatal mortality rates persist in Canada, in part as the result of insufficient training in newborn resuscitation and stabilization care, and inconsistent adherence to best practices. The Neonatal Resuscitation Program (NRP) has been the standard of care in all facilities providing perinatal care in Canada since the 1990s, but perinatal care providers and educators have continued to recognize gaps in knowledge and skill when stabilizing newborns post-resuscitation, especially in settings where this care is encountered infrequently. The Acute Care of at-Risk Newborns (ACoRN) program was developed to bridge such gaps. In ACoRN, an initial Primary Survey and systems-based care pathways (Sequences) prioritize and guide the assessment, essential care, and management of at-risk or unwell newborns in the first hours and days of life. This practice point highlights changes to practice and recommendations since 2012, when the ACoRN text and program were last revised. Like NRP, ACoRN is administered in Canada by the Canadian Paediatric Society (CPS). A newly revised and updated textbook and teaching program, both launched in 2021, will standardize care, increase competence and confidence among perinatal care providers, and improve neonatal outcomes in Canada and elsewhere in years to come.

Extremely low gestational age neonates and resuscitation: survey on perspectives of Canadian neonatologists.

OBJECTIVES: Resuscitation care planning for extremely low gestational age neonates (ELGANs) is complex and ethically charged. Increasing survival at lower gestational ages has had a significant impact on this complexity. It also has an impact on healthcare resource utilization and policy development in Canada. This study sought to determine the current attitudes and practices of neonatologists in Canada, and to assess moral distress associated with resuscitation decisions in the ELGAN population. It also aimed to explore the perspectives of adopting a shared decision-making approach where further data with regard to best interests and prognosis are gathered in an individualized manner after birth. METHODS: Neonatologists in Canadian level III NICUs were surveyed in 2020. RESULTS: Amongst the 65 responses, 78% expressed moral distress when parents request non-resuscitation at 24 weeks. Uncertainty around long-term outcomes in an era with improved chances of morbidity-free survival was the most prominent factor contributing to moral distress. 70% felt less moral distress deciding goals of care after the baby's initial resuscitation and preferred an individualized approach to palliation decisions based on postnatal course and assessment. CONCLUSIONS: While most current guidelines still support the option of non-resuscitation for infants born at less than 25 weeks, we show evidence of moral distress among Canadian neonatologists that suggests the consideration of routine resuscitation from 24 weeks and above is a more ethical approach in the current era of improved outcomes. Canadian neonatologists identified less moral distress when goals of care are developed postnatally, with availability of more evidence for prognostication, instead of antenatally based primarily on gestational age.

La stabilisation néonatale au Canada : des mises à jour aux pratiques du Programme de soins aigus aux nouveau-nés à risque (ACoRN).

On constate des écarts dans les taux de prématurité et de mortalité néonatale au Canada, en partie à cause d'une formation insuffisante en réanimation et en stabilisation néonatales et de même que d'une adhésion inégale aux pratiques exemplaires. Depuis les années 1990, le Programme de réanimation néonatale est la norme dans tous les établissements qui prodiguent des soins périnatals, mais les fournisseurs et les formateurs de soins périnatals ont continué d'observer des lacunes sur le plan des connaissances et des habiletés en matière de stabilisation des nouveau-nés après la réanimation, particulièrement dans les milieux où ces soins sont rarement requis. Le Programme de soins aigus aux nouveau-nés à risque (ACoRN) a été mis sur pied pour corriger ces lacunes. Dans l'ACoRN, une évaluation primaire et des trajectoires pour soigner les divers systèmes organiques (les séquences) priorisent et orientent l'évaluation, les soins essentiels et la prise en charge des nouveau-nés à risque ou malades pendant les premières heures et les premiers jours de vie. Le présent point de pratique fait ressortir les changements aux pratiques et aux recommandations depuis 2012, année de la dernière révision du texte et du fonctionnement de l'ACoRN, qui n'était alors offert qu'en anglais. À l'instar du Programme de réanimation néonatale, l'ACoRN est géré par la Société canadienne de pédiatrie au Canada. Un manuel et un programme d'enseignement révisés, mis à jour, traduits en français et lancés en 2021 standardiseront les soins, accroîtront les compétences et la confiance chez les dispensateurs de soins périnatals et amélioreront les pronostics néonatals au Canada et ailleurs au cours des prochaines années.

Aromatase deficiency in an Ontario Old Order Mennonite family.

OBJECTIVES: Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that diagnosis. CASE PRESENTATION: Our proband is an Old Order Mennonite female born with ambiguous genitalia who was identified to carry novel homozygous variant in the CYP19A1 gene c.1304G>A (p. Arg435His). Her older brother was later confirmed with the same genetic diagnosis. CONCLUSIONS: Recognizing the cultural sensitivity, unrecognized affected cases, and late presentation of males affected with aromatase deficiency, this condition may be more prevalent than believed in that population.

Association between distress and displacement settings: a cross-sectional survey among displaced Yazidis in northern Iraq.

BACKGROUND: Globally 70.8 million people have been forcibly displaced from their homes and are at disproportionally high risk for trauma. At the time of this study, there was an estimated 1.6 million internally displaced persons (IDP) in Iraq, more than two-thirds of whom reside in private, urban settings. This study aims to understand the impact of post-displacement accommodation on mental well-being of the Yazidi minority group displaced in Iraq. METHODS: Multi-stage stratified sampling was used to randomly select IDPs in camp and out of camp settlements in northern Iraq. Standardized questionnaires evaluated factors including exposure to violence and self-reported distress symptoms (measured by Impact of Event Scale-Revised). A multi-variate linear model assessed the relationship between settlement setting and distress symptoms. RESULTS: One thousand two hundred fifty-six displaced Yazidi participants were included in the study: 63% in camps and 37% out of camps. After controlling for exposure to violence, social cohesion, unemployment, and access to basic services, IDPs in camps were predicted to have a 19% higher mean distress symptom score compared to those out of camps. CONCLUSIONS: This study provides a framework to investigate post-displacement accommodation as a potential intervention to improve well-being for displaced populations. With a shift towards new models of emergency and long-term housing, it is important to understand the potential and limitations of more decentralized models, and identify effective methods to maintain access to basic services while improving living conditions for both displaced populations and their host communities.

Phenotypes of Obstructive Sleep Apnea.

Obstructive sleep apnea (OSA) is a multisystem breathing disorder associated with increased morbidity and mortality. Clinical and operative assessment tools improve surgical approaches to treat airway obstruction. The primary sites of anatomic obstruction are at the levels of the nasal, palatal, and hypopharyngeal airway. The literature suggests a relationship between reduced neuromuscular tone and the age-related increase in OSA prevalence for normal-weight adults. Pharyngeal soft tissue collapse due to reduced airway pressure is defined as the critical closing pressure. Respiratory biochemistry homeostasis is an additional factor in maintaining airway patency.

Respiratory Morbidity in Late Preterm and Term Babies Born by Elective Caesarean Section.

OBJECTIVE: This study sought to determine the incidence and severity of respiratory morbidity among late preterm and term babies born by elective Caesarean section (CS) in London, Ontario. METHODS: A retrospective chart review was conducted of all elective CSs performed at or beyond 360 weeks gestation from June 2010 to June 2014 at London Health Sciences Centre and St. Joseph's Health Care (Canadian Task Force Classification II-2). RESULTS: The main indications for elective CS were previous CS (59.3%) and malpresentation (24.2%). The majority of elective CSs were performed at 38 weeks (34.1%) and 39 weeks (40.1%). Although only 3.7% of babies born by elective CS were found to have respiratory morbidity, 85% of these babies were admitted to the neonatal intensive care unit (NICU), and 15% required additional observation through a triage period. The relative risk of respiratory morbidity with elective CS at ≤386 weeks compared with ≥390 weeks was 2.14 (P = 0.0110). Only 3.5% of patients received antenatal steroids. There was an increased level of intervention among the babies admitted to the NICU for respiratory morbidity; 47.8%, 19.6%, 60.8%, and 15.25% required oxygen supplement, bag and mask, continuous positive airway pressure, and intubation with mechanical ventilation, respectively. CONCLUSION: The risk of respiratory morbidity was significantly higher following elective CS before 39 weeks gestation. This resulted in increased length of stay and increased requirements for intravenous lines, blood draws, and exposure to antibiotics. This study provides further evidence that uncomplicated elective CS should be performed at ≥39 weeks, and interventions, such as preoperative antenatal steroid administration, may be considered if elective CS is medically indicated before 39 weeks.

Group B Streptococcal Cellulitis and Necrotizing Fasciitis in Infants: A Systematic Review.

BACKGROUND: There is no consensus regarding approaches to infantile group B streptococcal (GBS) head and neck cellulitis and necrotizing fasciitis. We present a case of GBS necrotizing cellulitis and summarize the literature regarding the presentation and management of infantile head and neck GBS cellulitis and necrotizing fasciitis. METHODS: The literature was searched using PubMed, Web of Science, EMBASE and Medline (inception to April 2017) by 2 independent review authors. Inclusion criteria encompassed case reports or case series of infants less than 12 months of age with GBS cellulitis of the head and neck or with GBS necrotizing fasciitis without restriction to the head and neck. Data were extracted using tables developed a priori by 2 independent review authors, and discrepancies were resolved by consensus. RESULTS: An infant presenting at 33 days of age with GBS facial necrotizing fasciitis was successfully treated conservatively with antibiotics. Our literature search identified 40 infants with GBS head and neck cellulitis. Late-onset (98%), male gender (65%) and prematurity (58%) predominated. Penicillin is the main therapy used (97%). The 12 identified cases of necrotizing fasciitis were associated with polymicrobial etiology (36%) and broad-spectrum antibiotic use. Seventy-five percent required debridement, including 4 of 5 (80%) cases involving the head and neck. CONCLUSIONS: Skin and soft tissue involvement is an uncommon manifestation of late-onset GBS infection which requires antibiotic therapy and possibly surgical debridement cases with necrotizing fasciitis.

Medical decision-making in paediatrics: Infancy to adolescence.

Medical decision-making in the paediatric population is complicated by the wide variation in physical and psychological development that occurs as children progress from infancy to adolescence. Parents and legal guardians are the de facto decision-makers in early infancy, but thereafter, the roles of parents/legal guardians and paediatric patients become ever more complex. Health care providers (HCPs), while not decision-makers per se, have a significant role in medical decision-making throughout childhood. This statement outlines the ethical principles of medical decision-making for HCPs involved in caring for paediatric patients. This revision focuses on individual decision-making in the context of the patient-provider relationship and provides increased guidance for dealing with disagreements.

Hypoglycemia in unmonitored full-term newborns-a surveillance study.

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.

Canadian Guidelines for Controlled Pediatric Donation After Circulatory Determination of Death-Summary Report.

OBJECTIVES: Create trustworthy, rigorous, national clinical practice guidelines for the practice of pediatric donation after circulatory determination of death in Canada. METHODS: We followed a process of clinical practice guideline development based on World Health Organization and Canadian Medical Association methods. This included application of Grading of Recommendations Assessment, Development, and Evaluation methodology. Questions requiring recommendations were generated based on 1) 2006 Canadian donation after circulatory determination of death guidelines (not pediatric specific), 2) a multidisciplinary symposium of national and international pediatric donation after circulatory determination of death leaders, and 3) a scoping review of the pediatric donation after circulatory determination of death literature. Input from these sources drove drafting of actionable questions and Good Practice Statements, as defined by the Grading of Recommendations Assessment, Development, and Evaluation group. We performed additional literature reviews for all actionable questions. Evidence was assessed for quality using Grading of Recommendations Assessment, Development, and Evaluation and then formulated into evidence profiles that informed recommendations through the evidence-to-decision framework. Recommendations were revised through consensus among members of seven topic-specific working groups and finalized during meetings of working group leads and the planning committee. External review was provided by pediatric, critical care, and critical care nursing professional societies and patient partners. RESULTS: We generated 63 Good Practice Statements and seven Grading of Recommendations Assessment, Development, and Evaluation recommendations covering 1) ethics, consent, and withdrawal of life-sustaining therapy, 2) eligibility, 3) withdrawal of life-sustaining therapy practices, 4) ante and postmortem interventions, 5) death determination, 6) neonatal pediatric donation after circulatory determination of death, 7) cardiac and innovative pediatric donation after circulatory determination of death, and 8) implementation. For brevity, 48 Good Practice Statement and truncated justification are included in this summary report. The remaining recommendations, detailed methodology, full Grading of Recommendations Assessment, Development, and Evaluation tables, and expanded justifications are available in the full text report. CONCLUSIONS: This process showed that rigorous, transparent clinical practice guideline development is possible in the domain of pediatric deceased donation. Application of these recommendations will increase access to pediatric donation after circulatory determination of death across Canada and may serve as a model for future clinical practice guideline development in deceased donation.

Decreasing Stress and Burnout in Nurses: Efficacy of Blended Learning With Stress Management and Resilience Training Program.

OBJECTIVE: The study's purpose was to assess efficacy of blended learning to decrease stress and burnout among nurses through use of the Stress Management and Resiliency Training (SMART) program. BACKGROUND: Job-related stress in nurses leads to high rates of burnout, compromises patient care, and costs US healthcare organizations billions of dollars annually. Many mindfulness and resiliency programs are taught in a format that limits nurses' attendance. METHODS: Consistent with blended learning, participants chose the format that met their learning styles and goals; Web-based, independent reading, facilitated discussions. The end points of mindfulness, resilience, anxiety, stress, happiness, and burnout were measured at baseline, postintervention, and 3-month follow-up to examine within-group differences. RESULTS: Findings showed statistically significant, clinically meaningful decreases in anxiety, stress, and burnout and increases in resilience, happiness, and mindfulness. CONCLUSIONS: Results support blended learning using SMART as a strategy to increase access to resiliency training for nursing staff.

Non-pathological bilious vomiting complicating therapeutic hypothermia for hypoxic ischaemic encephalopathy in neonates: a retrospective cohort study.

OBJECTIVE: Therapeutic hypothermia (TH) for moderate-to-severe neonatal hypoxic ischaemic encephalopathy (HIE) is generally described as safe. We performed this study to determine the incidence of bilious vomiting or bilious drainage (BVD) attributable to TH in this population. DESIGN: A single-centre, retrospective cohort study. SETTING: Neonatal and paediatric intensive care units (NICU and PICU) of a single tertiary care centre. PATIENTS: All newborns with HIE who met criteria for TH between 2009 and 2014. INTERVENTIONS: Cases were matched 1:1 for unit of care (NICU vs PICU), gestational age, gender, and Sarnat score with historic controls who did not receive TH. Groups were compared with Pearson's Χ2 analysis. Relative risk was calculated, and ORs were used to allow regression analysis. RESULTS: Forty-seven patients met all inclusion criteria. The incidence of BVD in patients who received TH was 26%. The group exposed to TH was more likely to experience BVD compared with the control group with a relative risk of 6.0(95% CI 1.4 to 25.4), even after accounting for improper or unchecked nasogastric position, opioids and muscle relaxant use, OR=7.8(95% CI 1.4 to 43.3), and when positive blood culture was included in the regression model, OR=11.6(95% CI 1.2 to 115.0). Three patients underwent investigation and no patients had surgical pathology. CONCLUSION: TH appears to be associated with non-pathological bilious vomiting or gastric drainage. Further prospective data are needed to identify the patients in whom investigation and intervention may be avoided.

The relationship between paediatric practitioners and 'industry'.

Paediatric practitioners interact with industry representatives for many purposes but most often to receive information on new and existing products. While practitioners believe they are immune to the marketing influences exerted by these representatives, research has demonstrated otherwise. The literature suggests that the public is aware of such influences and that most people feel industry influence on practitioners is inappropriate. National guidelines go some way toward regulating practitioner-industry interactions, although they are not always clear or sufficient. The present practice point explores the context for these relationships, raises some ethical issues specific to paediatric practitioners and provides recommendations for maintaining professional integrity in the patient-physician relationship. Paediatric practitioners have a professional duty to ensure that their own interactions with industry are conducted with the best interests of the patient front and centre.

Evidence of lensing of the cosmic microwave background by dark matter halos.

We present evidence of the gravitational lensing of the cosmic microwave background by 10(13) solar mass dark matter halos. Lensing convergence maps from the Atacama Cosmology Telescope Polarimeter (ACTPol) are stacked at the positions of around 12 000 optically selected CMASS galaxies from the SDSS-III/BOSS survey. The mean lensing signal is consistent with simulated dark matter halo profiles and is favored over a null signal at 3.2σ significance. This result demonstrates the potential of microwave background lensing to probe the dark matter distribution in galaxy group and galaxy cluster halos.