Digital Commons Network^™

"C.H.A.M.P. Families": Description And Theoretical Foundations Of A Paediatric Overweight And Obesity Intervention Targeting Parents-A Single-Centre Non-Randomised Feasibility Study., Kristen Reilly, Trish Tucker, Jennifer D. Irwin Phd, Andrew Johnson, Erin S Pearson, Dirk E Bock, Shauna M. Burke

Paediatrics Publications

Childhood obesity represents a significant global health challenge, and treatment interventions are needed. The purpose of this paper is to describe the components and theoretical model that was used in the development and implementation of a unique parent-focussed paediatric overweight/obesity intervention. C.H.A.M.P. Families was a single-centre, prospective intervention offered to parents of children aged between 6⁻14 years with a body mass index (BMI) ≥85th percentile for age and sex. The intervention included: (1) eight group-based (parent-only) education sessions over 13-weeks; (2) eight home-based activities; and (3) two group-based (family) follow-up support sessions. The first section of the manuscript contains a …

Effect Of Ultrafiltration During Hemodialysis On Hepatic And Total-Body Water: An Observational Study., Claire J Grant, Trevor P Wade, Charles A Mckenzie, Guido Filler, Christopher W Mcintyre, Huang S. Shih-Han

Paediatrics Publications

Background

The hepatic circulation is involved in adaptive systemic responses to circulatory stress. However, it is vulnerable to both chronic hypervolemia and cardiac dysfunction. The influence of hemodialysis (HD) and ultrafiltration (UF) upon liver water content has been understudied. We conducted a detailed pilot study to characterize the effects of HD upon liver water content and stiffness, referenced to peripheral fluid mobilization and total body water.

Methods

We studied 14 established HD patients without liver disease. Magnetic resonance imaging (MRI) together with ultrasound-based elastography and bioimpedance assessment were employed to measure hepatic water content and stiffness, body composition, and water …

Consensus-Based Care Recommendations For Adults With Myotonic Dystrophy Type 1., Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, Laurie Gutmann, Nicholas E Johnson, Giovanni Meola, Richard Moxley, Shree Pandya, Mark T Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L B Byrne, Craig Campbell, Edith Cup, John W Day, Elisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne-Berit Ekstrom, Baziel Van Engelen, Belen Esparis, Bruno Eymard, Marla Ferschl, Shahinaz M Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J Koopman, Kari Lane, Daphne Maas, Ami Mankodi, Katherine D Mathews, Darren G Monckton, David Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha Raman, Louis Richer, Elisabetta Roma, Jacinda Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S H Subramony, Cuixia Tian, Careniña Trujillo, Gordon Tomaselli, Chris Turner, Shannon Venance, Aparajitha Verma, Molly White, Stefan Winblad

Paediatrics Publications

Purpose of review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit.

Recent findings: The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page …

Phenytoin Activates Smad3 Phosphorylation And Periostin Expression In Drug-Induced Gingival Enlargement., Shawna S Kim, Georgia Nikoloudaki, Mark Darling, Michael J Rieder, Douglas W Hamilton

Paediatrics Publications

Drug-induced gingival enlargement (DIGE) is a fibrotic condition associated with systemic administration of the anti-epileptic drug, phenytoin. We have previously demonstrated that periostin, which is transforming growth factor-beta (TGF-β) inducible gene, is upregulated in various fibrotic conditions including gingival enlargement associated with nifedipine. The objective of this study was to assess periostin expression in phenytoin-induced gingival enlargement (PIGE) tissues and to investigate the mechanisms underlying periostin expression. Human PIGE tissues were assessed using Masson's trichrome, with cell infiltration and changes in extracellular matrix composition characterized through labeling with antibodies to periostin, phospho-SMAD 3, TGF-β, as well as the macrophage markers …

Dried Blood Spot Technique-Based Liquid Chromatography-Tandem Mass Spectrometry Method As A Simple Alternative For Benznidazole Pharmacokinetic Assessment, Danilo César Galindo Bedor, Noely Camila Tavares Cavalcanti Bedor, José Wellithom Viturino Da Silva, Giovana Damasceno Sousa, Davi Pereira De Santana, Facundo Garcia-Bournissen, Jaime Altcheh, Bethania Blum, Fabiana Alves, Isabela Ribeiro

Paediatrics Publications

Chagas disease (CD) is recognized as one of the major neglected global tropical diseases. Benznidazole (BNZ) is the drug of choice for the treatment of adults, young infants, and newborns with CD. However, the pharmacokinetics (PK) of BNZ have been poorly evaluated in all age groups, with consequent gaps in knowledge about PK-pharmacodynamic relationships in CD. The purpose of this study was to develop and validate a bioanalytical method to quantify BNZ levels in small-volume whole-blood samples collected as dried blood spots (DBS). The analysis was performed using high-performance liquid chromatography-positive electrospray tandem mass spectrometry. PK evaluation in healthy male …

Multicenter Trial Of A Combination Probiotic For Children With Gastroenteritis., Stephen B Freedman, Sarah Williamson-Urquhart, Ken J Farion, Serge Gouin, Andrew R Willan, Naveen Poonai, Katrina Hurley, Philip M Sherman, Yaron Finkelstein, Bonita E Lee, Xiao-Li Pang, Linda Chui, David Schnadower, Jianling Xie, Marc Gorelick, Suzanne Schuh

Paediatrics Publications

Background

Gastroenteritis accounts for approximately 1.7 million visits to the emergency department (ED) by children in the United States every year. Data to determine whether the use of probiotics improves outcomes in these children are lacking.

Methods

We conducted a randomized, double-blind trial involving 886 children 3 to 48 months of age with gastroenteritis who presented to six pediatric EDs in Canada. Participants received a 5-day course of a combination probiotic product containing Lactobacillus rhamnosus R0011 and L. helveticus R0052, at a dose of 4.0×10

Results

Moderate-to-severe gastroenteritis within 14 days after enrollment occurred in 108 of 414 participants (26.1%) …

Bafopathies' Dna Methylation Epi-Signatures Demonstrate Diagnostic Utility And Functional Continuum Of Coffin-Siris And Nicolaides-Baraitser Syndromes., Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A Tarnopolsky, David J Callen, A Micheil Innes, Susan M White, Wendy S Meschino, Andrew Y Shuen, Guillaume Paré, Dennis E Bulman, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Raoul C Hennekam, Kym M Boycott, Charles E Schwartz, Bekim Sadikovic

Paediatrics Publications

Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS (SMARCA2). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater than that within CSS, indicating a link in the functional basis of the two syndromes. We show that chromosome 6q25 microdeletion syndrome, harboring ARID1B deletions, exhibits a similar CSS/NCBRS methylation profile. Specificity of this epi-signature was confirmed across …

Driver Mutations In Janus Kinases In A Mouse Model Of B-Cell Leukemia Induced By Deletion Of Pu.1 And Spi-B, Carolina R. Batista, Michelle Lim, Anne Sophie Laraḿee, Faisal Abu-Sardanah, Li S. Xu, Rajon Hossain, Gillian I. Bell, David A. Hess, Rodney P. Dekoter

Paediatrics Publications

Precursor B-cell acute lymphoblastic leukemia (B-ALL) is associated with recurrent mutations that occur in cancer-initiating cells. There is a need to understand how driver mutations influence clonal evolution of leukemia. The E26-Transformation-specific (ETS) transcription factors PU.1 and Spi-B (encoded by Spi1 and Spib) execute a critical role in B-cell development and serve as complementary tumor suppressors. Here, we used a mouse model to conditionally delete Spi1 and Spib genes in developing B cells. These mice developed B-ALL with a median time to euthanasia of 18 weeks. We performed RNA and whole-exome sequencing (WES) on leukemias isolated from Mb1-CreDPB mice and …

Tri-Ponderal Mass Index In Survivors Of Childhood Brain Tumors: A Cross-Sectional Study., E Danielle Sims, Kuan-Wen Wang, Adam Fleming, Donna L Johnston, Shayna M Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan

Paediatrics Publications

Survivors of childhood brain tumors (SCBT) face a higher risk of cardiometabolic disorders and premature mortality compared to the general population. Excess adiposity is a known risk factor for these comorbidities. However, while SCBT have higher adiposity compared to healthy controls, measuring adiposity in clinical practice involves access to specialized equipment and may impact busy clinical services. Tri-ponderal Mass Index (TMI; kg/m

Sapropterin Treatment Prevents Congenital Heart Defects Induced By Pregestational Diabetes Mellitus In Mice., Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S Kucey, Brad L Urquhart, Thomas A Drysdale, Kambiz Norozi, Qingping Feng

Paediatrics Publications

Background Tetrahydrobiopterin is a cofactor of endothelial NO synthase ( eNOS ), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan), an orally active synthetic form of tetrahydrobiopterin on eNOS uncoupling and congenital heart defects ( CHD s) induced by pregestational diabetes mellitus in mice. Methods and Results Adult female mice were induced to pregestational diabetes mellitus by streptozotocin and bred with normal male mice to produce offspring. Pregnant mice were treated with sapropterin or vehicle during gestation. CHD s were identified by histological analysis. Cell proliferation, eNOS dimerization, and reactive oxygen species …

Eight Years After An International Workshop On Myotonic Dystrophy Patient Registries: Case Study Of A Global Collaboration For A Rare Disease., Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha El Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel Van Engelen, Stanislav Vohanka, Hanns Lochmüller

Paediatrics Publications

Background

Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess …

A Qualitative Examination Of Women's Self-Presentation And Social Physique Anxiety During Injury Rehabilitation, Molly V. Driediger, Craig R. Hall, Carly D. Mckay

Paediatrics Publications

No abstract provided.

App21 Transgenic Rats Develop Age-Dependent Cognitive Impairment And Microglia Accumulation Within White Matter Tracts., Nina Weishaupt, Qingfan Liu, Sheojung Shin, Ramandeep Singh, Yuksel Agca, Cansu Agca, Vladimir Hachinski, Shawn Narain Whitehead

Paediatrics Publications

Background

Most of the animal models commonly used for preclinical research into Alzheimer's disease (AD) largely fail to address the pathophysiology, including the impact of known risk factors, of the widely diagnosed sporadic form of the disease. Here, we use a transgenic rat (APP21) that does not develop AD-like pathology spontaneously with age, but does develop pathology following vascular stress. To further the potential of this novel rat model as a much-needed pre-clinical animal model of sporadic AD, we characterize APP21 transgenic rats behaviorally and histologically up to 19 months of age.

Methods

The open field test was used as …

Low Agreement Between Modified-Schwartz And Ckd-Epi Egfr In Young Adults: A Retrospective Longitudinal Cohort Study., Michael Webster-Clark, Byron Jaeger, Yi Zhong, Guido Filler, Ana Alvarez-Elias, Nora Franceschini, Maria E Díaz-González De Ferris

Paediatrics Publications

Background

While there is a great deal of research updating methods for estimating renal function, many of these methods are being developed in either adults with CKD or younger children. Currently, there is limited understanding of the agreement between the modified new bedside Schwartz estimated glomerular filtration rate (eGFR) formula and the adult CKD-EPI formula in adolescents and young adults (AYAs) with chronic kidney disease (CKD) measured longitudinally.

Methods

Longitudinal cohort study of 242 patients (10-30 years) with CKD, followed retrospectively in a single tertiary centre as they transitioned from the paediatric- to adult-focused settings. The study population came from …

Magnetic Resonance Imaging In The Diagnosis Of White Matter Signal Abnormalities., Ravi Datar, Asuri Narayan Prasad, Keng Yeow Tay, Charles Anthony Rupar, Pavlo Ohorodnyk, Michael Miller, Chitra Prasad

Paediatrics Publications

Background White matter abnormalities (WMAs) pose a diagnostic challenge when trying to establish etiologic diagnoses. During childhood and adult years, genetic disorders, metabolic disorders and acquired conditions are included in differential diagnoses. To assist clinicians and radiologists, a structured algorithm using cranial magnetic resonance imaging (MRI) has been recommended to aid in establishing working diagnoses that facilitate appropriate biochemical and genetic investigations. This retrospective pilot study investigated the validity and diagnostic utility of this algorithm when applied to white matter signal abnormalities (WMSAs) reported on imaging studies of patients seen in our clinics. Methods The MRI algorithm was applied to …

Encouraging Kids To Hop, Skip, And Jump: Emphasizing The Need For Higher-Intensity Physical Activity In Childcare, Molly Driediger, Leigh M. Vanderloo, Stephanie Truelove, Brianne A. Bruijns, Patricia Tucker

Paediatrics Publications

No abstract provided.

Physical Activity Self-Management Interventions For Adults With Spinal Cord Injury: Part 2 – Exploring The Generalizability Of Findings From Research To Practice, Shauna M. Burke, Jennifer R. Tomasone, Natalie V. Scime, Jasmin K. Ma, Samantha M. Harden, Dalton L. Wolfe

Paediatrics Publications

Despite the benefits associated with regular participation in physical activity, individuals with spinal cord injury (SCI) remain insufficiently active. The ability to self-manage participation may increase physical activity levels, but only if self-management interventions can be implemented in the ‘real world’. The purpose of this review was to examine the degree to which authors of published studies of LTPA self-management interventions for individuals with SCI have reported on factors that could increase the likelihood of translating this research into practice. A systematic search of five databases was conducted, yielding 33 eligible studies representing 31 interventions. Each intervention was assessed using …

Physical Activity Self-Management Interventions For Adults With Spinal Cord Injury: Part 1–A Systematic Review Of The Use And Effectiveness Of Behavior Change Techniques, Jennifer R. Tomasone, Stephanie M. Flood, Jasmin K. Ma, Natalie V. Scime, Shauna M. Burke, Lindsay Sleeth, Stephanie Marrocco

Paediatrics Publications

Objectives: To determine which behavior change techniques (BCTs) have been used within leisure time physical activity (LTPA) self-management interventions for persons with spinal cord injury (SCI), and which BCTs were effective for improving LTPA behavior and/or its antecedents. Design: Systematic review informed by the PRISMA guidelines. Methods: A comprehensive literature search was conducted using five databases. Study characteristics were extracted from included articles and intervention descriptions were coded using the BCT Taxonomy V.1. Effectiveness and maintenance of BCTs as well as the level of behavior change theory use in the design of interventions were examined within experimental studies. Results: Thirty-one …

Non-Canonical Functions Of The Rb Protein In Cancer, Frederick A. Dick, David W. Goodrich, Julien Sage, Nicholas J. Dyson

Paediatrics Publications

The canonical model of RB-mediated tumour suppression developed over the past 30 years is based on the regulation of E2F transcription factors to restrict cell cycle progression. Several additional functions have been proposed for RB, on the basis of which a non-canonical RB pathway can be described. Mechanistically, the non-canonical RB pathway promotes histone modification and regulates chromosome structure in a manner distinct from cell cycle regulation. These functions have implications for chemotherapy response and resistance to targeted anticancer agents. This Opinion offers a framework to guide future studies of RB in basic and clinical research.

Methadone For Analgesia In Children With Life-Limiting Illness: Experience From A Tertiary Children's Health Service., Christine Mott, Amrita Sarpal, Krista Moss, Anthony Herbert

Paediatrics Publications

Methadone has the potential to assist in the management of pain in children with life-limiting illness, but its use is limited by its complex pharmacokinetic profile and limited research on its use in children. This is a retrospective review of the use of methadone as an analgesic in 16 children with life-limiting illness. Efficacy, dosing and side effect profile were analysed. Fifteen (94%) patients had improvements in their analgesia with minimal observed adverse effects. Patients were either rapidly converted from a prior opioid in one change or received methadone as an adjunct medication. Conversions were calculated using ratios frequently in …

Inactivation Of Hepatic Atrx In Atrx Foxg1cre Mice Prevents Reversal Of Aging‐Like Phenotypes By Thyroxine, Megan E Rowland, Yan Jiang, Frank Beier, Nathalie G Bérubé

Paediatrics Publications

ATRX is an ATP‐dependent chromatin remodeler required for the maintenance of genomic integrity. We previously reported that conditional Atrx ablation in the mouse embryonic forebrain and anterior pituitary using the Foxg1cre driver causes reduced health and lifespan. In these mice, premature aging‐like phenotypes were accompanied by low circulating levels of insulin‐like growth factor 1 (IGF‐1) and thyroxine (T4), hormones that maintain stem cell pools and normal metabolic profiles, respectively. Based on emerging evidence that T4 stimulates expression of IGF‐1 in pre‐pubertal mice, we tested whether T4 supplementation in Atrx Foxg1cre mice could restore IGF‐1 levels and ameliorate premature aging‐like phenotypes. …

Stable Expression Of Α1-Antitrypsin Portland In Mda-Mb-231 Cells Increased Mt1-Mmp And Mmp-9 Levels, But Reduced Tumour Progression., J.A. Wilson, C.A. Muir, C. L. Evered, M. A. Cepeda, S. Damjanovski

Paediatrics Publications

The membrane bound matrix metalloproteinase MT1-MMP plays roles in modulating cell movement, independent of its abilities to remodel the extracellular matrix. Unlike many MMPs, MT1-MMP is activated in the Golgi prior to secretion by a pro-protein convertase, primarily furin. Regulation of the activation of pro-MT1-MMP has been methodically investigated, as altering the level of the active protein has broad implications in both activating other proMMPs, including pro-MMP-2, and many subsequent remodelling events. Our previous work in MCF-7 cells has demonstrated that modest, and not extremely high, levels of active MT1-MMP manifests into altered cell morphology and movement. At this low …

Measuring Performance On The Healthcare Access And Quality Index For 195 Countries And Territories And Selected Subnational Locations: A Systematic Analysis From The Global Burden Of Disease Study 2016, Gbd 2016 Healthcare Access And Quality Collaborators

Paediatrics Publications

BACKGROUND: A key component of achieving universal health coverage is ensuring that all populations have access to quality health care. Examining where gains have occurred or progress has faltered across and within countries is crucial to guiding decisions and strategies for future improvement. We used the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) to assess personal health-care access and quality with the Healthcare Access and Quality (HAQ) Index for 195 countries and territories, as well as subnational locations in seven countries, from 1990 to 2016.

METHODS: Drawing from established methods and updated estimates from GBD …

Chronic Kidney Disease Stage Affects Small, Dense Low-Density Lipoprotein But Not Glycated Low-Density Lipoprotein In Younger Chronic Kidney Disease Patients: A Cross-Sectional Study., Guido Filler, Sepideh Taheri, Christopher Mcintyre, Connor Smith, Lakshmimathy Subramanian, Gerhard Fusch, Christoph Fusch

Paediatrics Publications

Background

Small, dense low-density lipoprotein (sd-LDL) and glycated LDL (g-LDL) have been associated with cardiovascular disease (CVD) in chronic kidney disease (CKD) in patients >60 years of age. Since young adult and paediatric patients have shorter exposure to Framingham-type risk factors, our study aims to determine whether younger CKD patients exhibit the same sd-LDL and g-LDL pattern.

Methods

After ethics board approval, this cross-sectional study was conducted at two universities with 44 patients (mean ± standard deviation age 12.6 ± 4.9, range 2-24 years) with CKD stage of 1-5. Laboratory parameters studied were Cystatin C (CysC), CysC estimated glomerular filtration …

Evaluation Of Primary Caregivers' Perceptions On Home Trampoline Use, Supriya Singh, Kamary Coriolano, Jacob Davidson, Megan Cashin, Timothy Carey, Debra Bartley

Paediatrics Publications

Trampolines are widely used by children, but trampoline injuries can be severe and may require hospital care or even surgery. This pilot study examined the effectiveness of an educational intervention on caregivers' perceptions of trampoline use and safety for their children. Primary caregivers were recruited from the orthopedic clinic at the Children's Hospital at our institution in 2015. Caregivers were asked to complete a survey at two time points, initially in clinic and one week post educational intervention. The educational intervention was a pamphlet outlining trampoline safety data. Data analysis occurred in 2016. From the 100 primary caregivers recruited, 39 …

Hiv-1 Tat Expression And Sulphamethoxazole Hydroxylamine Mediated Oxidative Stress Alter The Disulfide Proteome In Jurkat T Cells, Kemi Adeyanju, John R. Bend, Michael J. Rieder, Gregory A. Dekaban

Paediatrics Publications

Background

Adverse drug reactions (ADRs) are a significant problem for HIV patients, with the risk of developing ADRs increasing as the infection progresses to AIDS. However, the pathophysiology underlying ADRs remains unknown. Sulphamethoxazole (SMX) via its active metabolite SMX-hydroxlyamine, when used prophylactically for pneumocystis pneumonia in HIV-positive individuals, is responsible for a high incidence of ADRs. We previously demonstrated that the HIV infection and, more specifically, that the HIV-1 Tat protein can exacerbate SMX-HA-mediated ADRs. In the current study, Jurkat T cell lines expressing Tat and its deletion mutants were used to determine the effect of Tat on the thiol …

Genomic Dna Methylation-Derived Algorithm Enables Accurate Detection Of Malignant Prostate Tissues, Erfan Aref-Eshghi, Laila C Schenkel, Peter Ainsworth, Hanxin Lin, David I Rodenhiser, Jean-Claude Cutz, Bekim Sadikovic

Paediatrics Publications

Introduction

The current methodology involving diagnosis of prostate cancer (PCa) relies on the pathology examination of prostate needle biopsies, a method with high false negative rates partly due to temporospatial, molecular, and morphological heterogeneity of prostate adenocarcinoma. It is postulated that molecular markers have a potential to assign diagnosis to a considerable portion of undetected prostate tumors. This study examines the genome-wide DNA methylation changes in PCa in search of genomic markers for the development of a diagnostic algorithm for PCa screening.

Methods

Archival PCa and normal tissues were assessed using genomic DNA methylation arrays. Differentially methylated sites and regions …

An International Delphi Survey For The Definition Of The Variables For The Development Of New Classification Criteria For Periodic Fever Aphtous Stomatitis Pharingitis Cervical Adenitis (Pfapa)., Federica Vanoni, Silvia Federici, Jordi Antón, Karyl S Barron, Paul Brogan, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Veronique Hentgen, Tilmann Kallinich, Ronald Laxer, Ricardo Russo, Natasa Toplak, Yosef Uziel, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Michael Hofer

Paediatrics Publications

BACKGROUND: Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey.

METHODS: A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA. In a second survey, respondents …

An International Delphi Survey For The Definition Of The Variables For The Development Of New Classification Criteria For Periodic Fever Aphtous Stomatitis Pharingitis Cervical Adenitis (Pfapa)., Federica Vanoni, Silvia Federici, Jordi Antón, Karyl S Barron, Paul Brogan, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Veronique Hentgen, Tilmann Kallinich, Ronald Laxer, Ricardo Russo, Natasa Toplak, Yosef Uziel, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Michael Hofer

Paediatrics Publications

Background

Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey.

Methods

A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA. In a second survey, respondents …

Medical Decision-Making In Paediatrics: Infancy To Adolescence, Kevin W. Coughlin

Paediatrics Publications

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 …