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Rohatgi S.,Childrens Hospital of Philadelphia | Clark D.,Childrens Hospital of Philadelphia | Kline A.D.,Harvey Institute of Human Genetics | Jackson L.G.,Drexel University | And 7 more authors.
American Journal of Medical Genetics, Part A | Year: 2010

Cornelia de Lange syndrome (CdLS) is a dominant disorder with classic severe forms and milder atypical variants. Central to making the diagnosis is identification of diagnostic facial features. With the recognition that patients with SMC1A and SMC3 mutations havemilder, atypical features, we surveyed 65 dysmorphologists using facial photographs from 32 CdLS patients with the goals of (1) Illustrating examples of milder patients with SMC1A mutations and (2) Obtaining objective data to determine which facial features were useful and misleading inmaking a diagnosis of CdLS. Clinicians were surveyed whether the patient had CdLS or another diagnosis, the certainty of response and the clinical features used to support each response. Using only facial photographs, an average of 24 cases (75%) were accurately diagnosed per clinician. Correct diagnoses were made in 90% of classic CdLS and 87% of non-CdLS cases, however, only 54%of mild or variantCdLS were correctly diagnosed by respondents. We confirmed that CdLS is most accurately diagnosed in childhood and the diagnosis becomes increasingly difficult with age. This survey demonstrated that emphasis is placed on the eyebrows, nasal features, prominent upper lip andmicrognathia. In addition, the presence of fuller, atypical eyebrows, a prominent nasal bridge and significant prognathismwith age dissuaded survey takers fromarriving at a diagnosis of CdLS in individuals with mild NIPBL and SMC1A mutations. This work underscores the difficulty in diagnosing patients with mild and variant CdLS and serves to objectively classify both useful and misleading features in the diagnosis of CdLS. © 2010 Wiley-Liss, Inc.

Coleman B.L.,Mount Sinai Hospital | Coleman B.L.,University of Toronto | Louie M.,Alberta Provincial Health Laboratory for Public Health | Louie M.,University of Calgary | And 14 more authors.
Water Research | Year: 2013

Background: Surface and ground water across the world, including North America, is contaminated with bacteria resistant to antibiotics. The consumption of water contaminated with antimicrobial resistant Escherichia coli (E. coli) has been associated with the carriage of resistant E. coli in people who drink it. Objectives: To describe the proportion of drinking water samples submitted from private sources for bacteriological testing that were contaminated with E. coli resistant to antibiotics and to determine risk factors for the contamination of these water sources with resistant and multi-class resistant E. coli. Methods: Water samples submitted for bacteriological testing in Ontario and Alberta Canada were tested for E. coli contamination, with a portion of the positive isolates tested for antimicrobial resistance. Households were invited to complete questionnaires to determine putative risk factors for well contamination. Results: Using multinomial logistic regression, the risk of contamination with E. coli resistant to one or two classes of antibiotics compared to susceptible E. coli was higher for shore wells than drilled wells (odds ratio [OR] 2.8) and higher for farms housing chickens or turkeys (OR 3.0) than properties without poultry. The risk of contamination with multi-class resistant E. coli (3 or more classes) was higher if the properties housed swine (OR5.5) or cattle (OR 2.2) than properties without these livestock and higher if the wells were located in gravel (OR 2.4) or clay (OR 2.1) than in loam. Conclusions: Housing livestock on the property, using a shore well, and having a well located in gravel or clay soil increases the risk of having antimicrobial resistant E. coli in E. coli contaminated wells. To reduce the incidence of water borne disease and the transmission of antimicrobial resistant bacteria, owners of private wells need to take measures to prevent contamination of their drinking water, routinely test their wells for contamination, and use treatments that eliminate bacteria. © 2013 Elsevier Ltd.

Ooi C.Y.,University of New South Wales | Ooi C.Y.,University of Toronto | Castellani C.,Cystic Fibrosis Center | Volpi S.,Cystic Fibrosis Center | And 14 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.

Pole J.D.,Pediatric Oncology Group of Ontario | Pole J.D.,University of Toronto | Alibhai S.M.H.,A+ Network | Teuffel O.,The Hospital for Sick Children | And 6 more authors.
Annals of Oncology | Year: 2013

Background: The objective was to compare 5-year overall survival (OS) between adolescent and young adult (AYA) patients (age 15-19) with acute lymphoblastic leukemia (ALL) treated at a pediatric versus an adult center. Patients and methods: This was a population-based analysis using administrative data of Ontario ALL AYA patients diagnosed between 1986-2009. We calculated predicted survival proportions (PSPs) and 95% confidence intervals (CI). We also surveyed sites to determine whether pediatric or adult-based protocols were used in each period. Results: Overall, 290 patients between 15-19 years of age were diagnosed with ALL during the study period; 144 patients (49.7%) were treated at an adult center. When adjusted for gender, age, income quintile and time period, AYA patients treated at a pediatric centerdid not have a significantly different PSP (0.65, 95% CI: 0.56-0.75) in comparison to those treated at an adult center (0.62, 95% CI 0.52-0.73; P = 0.87). Most AYA patients treated at adult centers received pediatric protocols in the recent periods. Conclusions: Using population-based data, AYA ALL patients had similar outcomes whether treated at a pediatric or an adult center. Early introduction of aggressive treatment protocols in adult centers may have negated differences in outcomes among AYA patients by site of care. © The Author 2012. Published by Oxford University Press on behalf of the European Society for Medical Oncology. All rights reserved.

Zhang I.,Childrens Hospital of Western Ontario | Husein M.,Childrens Hospital of Western Ontario | Dworschak-Stokan A.,Thames Valley Childrens Center | Jung J.,Childrens Hospital of Western Ontario | And 4 more authors.
Journal of Otolaryngology - Head and Neck Surgery | Year: 2012

Objective: Velopharyngeal insufficiency (VPI) is an often underrecognized disorder of palatal and nasopharyngeal closure that leads to the production of hypernasal speech. However, the potential clinical association between VPI and neurofibromatosis type 1 (NF1) remains undefined in the literature. The purpose of this study sought to identify and describe the potential clinical association of VPI in NF1 patients. Design: A combined retrospective and prospective study. Setting: Tertiary referral centre. Methods: The NF1 database from 1998 to 2007 from the Medical Genetics Unit of our institution was used for this project. All NF1 patients seen during this period were sent a letter soliciting their participation in the study, which was designed to screen for the presence of VPI. Main Outcome Measures: Perceptual testing was undertaken using the American Cleft Palate-Craniofacial Association (ACPA) clinical database form and acoustic measurement of nasal flow, including standard nasometry and nasalance scores. A comprehensive chart review was also performed. Results: One hundred forty-nine NF1 patients were identified from the database; 18 patients responded to our request for participation, with 3 additional participants recruited from recent clinical visits. Eleven of these 21 patients exhibited VPI based on perceptual evaluation and nasometry screening. Conclusions: This preliminary study attempted to identify a potential association between NF1 and VPI. Although this sample of NF1 patients was small, the finding of 11 of 21 patients being positively identified with some degree of VPI is of clinical interest, and further research is warranted. © 2012 The Canadian Society of Otolaryngology-Head & Neck Surgery.

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