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Ooi C.Y.,University of New South Wales | Ooi C.Y.,Sydney Childrens Hospital Randwick | Ooi C.Y.,University of Toronto | Castellani C.,Cystic Fibrosis Center | And 20 more authors.
Pediatrics | Year: 2015

OBJECTIVES: To prospectively study infants with an inconclusive diagnosis of cystic fibrosis (CF) identified by newborn screening (NBS; "CF screen positive, inconclusive diagnosis" [CFSPID]) for disease manifestations. METHODS: Infants with CFSPID and CF based on NBS from 8 CF centers were prospectively evaluated and monitored. Genotype, phenotype, repeat sweat test, serum trypsinogen, and microbiology data were compared between subjects with CF and CFSPID and between subjects with CFSPID who did (CFSPID→CF) and did not (CFSPID→CFSPID) fulfill the criteria for CF during the first 3 years of life. RESULTS: Eighty-two subjects with CFSPID and 80 subjects with CF were enrolled. The ratio of CFSPID to CF ranged from 1:1.4 to 1:2.9 in different centers. CFTR mutation rates did not differ between groups; 96% of subjects with CFSPID and 93% of subjects with CF had 2 mutations. Subjects with CFSPID had significantly lower NBS immunoreactive trypsinogen (median [interquartile range]:77 [61-106] vs 144 [105-199] μg/L; P < .0001) than did subjects with CF. Pseudomonas aeruginosa and Stenotrophomonas maltophilia were isolated in 12% and 5%, respectively, of subjects with CFSPID. CF was diagnosed in 9 of 82 (11%) subjects with CFSPID (genotype and abnormal sweat chloride = 3; genotype alone = 4; abnormal sweat chloride only = 2). Sweat chloride was abnormal in CFSPID→CF patients at a mean (SD) age of 21.3 (13.8) months. CFSPID→CF patients had significantly higher serial sweat chloride (P < .0001) and serum trypsinogen (P = .009) levels than did CFSPID→CFSPID patients. CONCLUSIONS: A proportion of infants with CFSPID will be diagnosed with CF within the first 3 years. These findings underscore the need for clinical monitoring, repeat sweat testing at age 2 to 3 years, and extensive genotyping. Copyright © 2015 by the American Academy of Pediatrics.


Gravel J.,CHU Sainte Justine | Fitzpatrick E.,Health Center | Gouin S.,CHU Sainte Justine | Millar K.,Alberta Childrens Hospital | And 10 more authors.
Annals of Emergency Medicine | Year: 2013

Study objective: We evaluate the association between triage levels assigned using the Canadian Triage and Acuity Scale and surrogate markers of validity for real-life children triaged in multiple emergency departments (EDs). Methods: This was a retrospective cohort study evaluating the triage assessment and outcomes of all children presenting to 12 pediatric EDs, all of which are members of the Pediatric Emergency Research Canada group, during a 1-year period (2010 to 2011). Anonymous data were retrieved from the ED computerized databases. The primary outcome measure was the proportion of children hospitalized for each triage level. Other outcomes were ICU admission, proportion of patients who left without being seen by a physician, and length of stay in the ED. Evaluation of all children visiting these EDs during 1 year was expected to provide more than 1,000 patients in each triage category. Results: A total of 550,940 children were included. Pooled data demonstrated hospitalization proportions of 61%, 30%, 10%, 2%, and 0.9% for patients in Canadian Triage and Acuity Scale levels 1, 2, 3, 4, and 5, respectively. There was a strong association between triage level and admission to the ICU, probability of leaving without being seen by a physician, and length of stay. Conclusion: The strong association between triage level and multiple markers of severity in 12 Canadian pediatric EDs suggests validity of the Canadian Triage and Acuity Scale for children. Copyright © 2012 by the American College of Emergency Physicians.


PubMed | Alberta Childrens Hospital, Janeway Child Health Center, CancerCare Manitoba, McMaster University and 14 more.
Type: Journal Article | Journal: Haematologica | Year: 2015

Inherited bone marrow failure syndromes are a group of rare, heterogeneous genetic disorders with a risk of clonal and malignant myeloid transformation including clonal marrow cytogenetic abnormalities, myelodysplastic syndrome and acute myeloid leukemia. The clinical characteristics, risk classification, prognostic factors and outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes are largely unknown. The aims of this study were to determine the impact of category, cytopathology and cytogenetics, the three components of the Category Cytology Cytogenetics classification of pediatric myelodysplastic syndrome, on the outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure. We used data from the Canadian Inherited Marrow Failure Registry. Among 327 patients with inherited bone marrow failure syndrome enrolled in the registry, the estimated risk of clonal and malignant myeloid transformation by the age of 18 years was 37%. The risk of clonal and malignant myeloid transformation varied according to the type of inherited bone marrow failure syndrome but was highest in Fanconi anemia. The development of clonal and malignant myeloid transformation significantly affected overall survival. Mortality varied based on cytopathological group. The largest group of patients had refractory cytopenia. Clonal marrow cytogenetic abnormalities were identified in 87% of patients with clonal and malignant myeloid transformation, and different cytogenetic groups had different impacts on disease progression. We conclude that category, cytopathology and cytogenetics in cases of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes have an important impact on outcome and that the classification of such cases should incorporate these factors.


PubMed | University of Calgary, Stollery Childrens Hospital, Hospital for Sick Children, CancerCare Manitoba and 12 more.
Type: Journal Article | Journal: Journal of neuro-oncology | Year: 2015

The treatment of medulloblastoma, the most common malignant brain tumor in children, has evolved over the last few decades. The objectives of this paper were to determine the survival of pediatric medulloblastoma in Canada, to determine if there has been an improvement in the survival rates between the years of 1990 and 2009, inclusive, and to determine prognostic factors for survival. All patients under the age of 18years diagnosed with medulloblastoma from 1990 to 2009, inclusive, in Canada were included. Data collected included date of diagnosis, age at diagnosis, gender, stage, pathology, treatment, recurrence and current status. From these, survival rates were determined. Data were obtained on 628 eligible patients. The overall 5-year survival rate for the study time period was 69.23.3%. The survival rate increased during the interval of 1996-2000, then remained stable; 1990-1994: 60.24.3%; 1995-1999: 73.23.5%; 2000-2004: 68.83.7%; and 2005-2009: 72.14.9%, p=0.05. Children over 14years of age had a significantly better overall survival than those age 5-14 and those under 5 (85.75.5% vs 76.12.7% and 60.83% respectively, p=0.001). Histologic medulloblastoma subtype and M stage of disease did not result in significant differences in survival. Despite changes in approaches to therapy, we demonstrate a steady survival rate for children with medulloblastoma after 1996. In our analyses, age over 14years was associated with a higher survival rate.


Gravel J.,University of Montréal | Gouin S.,University of Montréal | Goldman R.D.,University of British Columbia | Osmond M.H.,University of Ottawa | And 8 more authors.
Annals of Emergency Medicine | Year: 2012

Study objective: The aims of the study are to measure both the interrater agreement of nurses using the Canadian Triage and Acuity Scale in children and the validity of the scale as measured by the correlation between triage level and proxy markers of severity. Methods: This was a prospective multicenter study of the reliability and construct validity of the Canadian Triage and Acuity Scale in 9 tertiary care pediatric emergency departments (EDs) across Canada during 2009 to 2010. Participants were a sample of children initially triaged as Canadian Triage and Acuity Scale level 2 (emergency) to level 5 (nonurgent). Participants were recruited immediately after their initial triage to undergo a second triage assessment by the research nurse. Both triages were performed blinded to the other. The primary outcome measures were the interrater agreement between the 2 nurses and the association between triage level and hospitalization. Secondary outcome measures were the association between triage level and health resource use and length of stay in the ED. Results: A total of 1,564 patients were approached and 1,464 consented. The overall interrater agreement was good, as demonstrated by a quadratic weighted κ score of 0.74 (95% confidence interval 0.71 to 0.76). Hospitalization proportions were 30%, 8.3%, 2.3%, and 2.2% for patients triaged at levels 2, 3, 4, and 5, respectively. There was also a strong association between triage levels and use of health care resources and length of stay. Conclusion: The Canadian Triage and Acuity Scale demonstrates a good interrater agreement between nurses across multiple pediatric EDs and is a valid triage tool, as demonstrated by its good association with markers of severity. Copyright © 2012 by the American College of Emergency Physicians.


Filler G.,Childrens Hospital of Western Ontario | Filler G.,University of Western Ontario | Melk A.,Hannover Medical School | Marks S.D.,Hospital for Children NHS Foundation Trust
Pediatric Transplantation | Year: 2016

The management of non-renal pediatric solid organ transplant recipients has become complex over the last decade with innovations in immunosuppression and surgical techniques. Post-transplantation follow-up is essential to ensure that children have functioning allografts for as long as possible. CKD is highly prevalent in these patients, often under recognized, and has a profound impact on patient survival. These practice recommendations focus on the early detection and management of hypertension, proteinuria, and renal dysfunction in non-renal pediatric solid organ transplant recipients. We present seven practice recommendations. Renal function should be monitored regularly in organ transplant recipients, utilizing assessment of serum creatinine and cystatin C. GFR should be calculated using the new Schwartz formula. Transplant physicians should also monitor blood pressure using automated oscillometric devices and confirm repeated abnormal measures with manual blood pressure readings and ambulatory 24-h blood pressure monitoring. Proteinuria and microalbuminuria should also be assessed regularly. Referrals to a pediatric nephrologist should be made for non-renal organ transplant recipients with repeated blood pressures >95th percentile using the Fourth Task Force reference intervals, microalbumin/creatinine ratio >32.5 mg/g (3.7 mg/mmol) creatinine on repeated testing and/or GFR <90 mL/min/1.73 m2. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Butter A.,Childrens Hospital of Western Ontario | Jayaraman S.,London Health Sciences Center | Schlachta C.,London Health Sciences Center
Journal of Robotic Surgery | Year: 2010

Superior mesenteric artery syndrome (SMAS) involves vascular compression of the third part of the duodenum, eventually leading to gastrointestinal obstruction. Duodenojejunostomy is indicated after failure of conservative management and in chronic cases. We report a case of a cachetic 16-year-old girl with dyskeratosis congenita who suffered from SMA syndrome for 18 months. Upper endoscopy and preoperative imaging (upper GI series and abdominal CT scan) confirmed the diagnosis. A da Vinci-assisted duodenojejunostomy was performed after obtaining informed consent from the patient and her parents. Intraoperatively, a dilated duodenum to the level of D3 was noted. A side-to-side two-layer handsewn anatomosis was performed. The patient was discharged home on postoperative day #3. She gained 1. 4 kg within 1 month. Twenty-one months later, she remains asymptomatic with a total weight gain of 3. 2 kg. To our knowledge, this is the first reported case of a robot-assisted duodenojejunostomy for SMAS. © 2010 Springer-Verlag London Ltd.


Campbell C.,Childrens Hospital of Western Ontario | Levin S.,Childrens Hospital of Western Ontario | Siu V.M.,Childrens Hospital of Western Ontario | Venance S.,University of Western Ontario | Jacob P.,University of Ottawa
Journal of Pediatrics | Year: 2013

Objectives: To determine the incidence and neonatal morbidity and mortality of congenital myotonic dystrophy (CDM) in Canada. Study design: The study has 2 phases. A 5-year prospective monthly surveillance of incident cases of CDM conducted via the Canadian Pediatric Surveillance Program, from March 1, 2005-February 28, 2010, and a 5-year cohort study of eligible incident cases, which is ongoing and not the subject of this report. Results: A total of 121 cases were reported, with 38 confirmed as CDM. The incidence of CDM in Canada is 2.1/100 000 (1/47 619) live births. The cases were reported from 8 provinces and 1 territory. The highest reported incidence was Ontario with 15, followed by British Columbia with 7, and Quebec with 6. External validation of cases was performed. The trinucleotide repeat level varied from 550-3100. Twenty-two (58%) of the children were the index cases for their families. Seventeen children are currently enrolled in the ongoing cohort study. Conclusion: Surveillance and prospective examination of CDM at a population level is important, as the impact of this rare disease is systemic, chronic, and associated with significant morbidity and mortality throughout childhood. © 2013 Mosby Inc. All rights reserved.


Sharma S.,Lady Hardinge Medical College | Prasad A.,Childrens Hospital of Western Ontario
Canadian Journal of Neurological Sciences | Year: 2013

The epileptic encephalopathies of infancy are a group of disorders characterized by intractable seizures, persistent abnormality of cortical function documented on EEG, and consequently impaired neuro-developmental outcomes. The etiologies vary and include; structural brain malformations, acquired brain insults, and inborn errors of metabolism in the majority of the affected patients. In a proportion of these cases no obvious etiology is identifiable on investigation. Recent advances in molecular diagnostics have led to the discovery of a number of gene defects that may be causal in many epileptic encephalopathies. Identification of the causative mutation is important for prognostic and genetic counseling, and may also carry treatment implications. The recently described genes include; Cyclin-Dependent Kinase-Like 5 gene (CDKL5), Protocadherin 19 (PCDH19), Sodium channel neuronal type 1a subunit gene (SCN1A), Aristaless-Related Homeobox Gene (ARX), and Syntaxin binding protein 1 gene (STXBP1), amongst others. Distinct electro-clinical syndromes are increasingly being identified amongst patients carrying the various mutations. In this review, we outline the approach to clinical evaluation and genetic testing of epileptic encephalopathies in infancy.


PubMed | Childrens Hospital of Western Ontario and London Health Sciences Center
Type: Journal Article | Journal: Journal of robotic surgery | Year: 2016

Superior mesenteric artery syndrome (SMAS) involves vascular compression of the third part of the duodenum, eventually leading to gastrointestinal obstruction. Duodenojejunostomy is indicated after failure of conservative management and in chronic cases. We report a case of a cachetic 16-year-old girl with dyskeratosis congenita who suffered from SMA syndrome for 18months. Upper endoscopy and preoperative imaging (upper GI series and abdominal CT scan) confirmed the diagnosis. A da Vinci-assisted duodenojejunostomy was performed after obtaining informed consent from the patient and her parents. Intraoperatively, a dilated duodenum to the level of D3 was noted. A side-to-side two-layer handsewn anatomosis was performed. The patient was discharged home on postoperative day #3. She gained 1.4kg within 1month. Twenty-one months later, she remains asymptomatic with a total weight gain of 3.2kg. To our knowledge, this is the first reported case of a robot-assisted duodenojejunostomy for SMAS.

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