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Paediatrics and Child Health: Recent submissions

  • Physician practice in food allergy prevention in the Middle East and North Africa 
    Vandenplas, Yvan; AlFrayh, Abdulrahman Saleh; AlMutairi, Bandar; Elhalik, Mahmoud Salah; Green, Robin J.; Haddad, Joseph; Koshak, Emad Abdulqader; Miqdady, Mohamad; Mouane, Nezha; Salah, Mohamed; Samy, Gamal; Tavakol, Marzieh; Von Berg, Andrea; Szajewska, Hania (BioMed Central, 2017-05-05)
    BACKGROUND : A number of scientific organisations have developed guidelines for the primary prevention of allergic disease through nutritional interventions. However, even if the best evidence-based guidelines are available, ...
  • International Paediatric Mitochondrial Disease Scale 
    Koene, Saskia; Hendriks, Jan C.M.; Dirks, Ilse; De Boer, Lonneke; De Vries, Maaike C.; Janssen, Mirian C.H.; Smuts, Izelle; Fung, Cheuk-Wing; Wong, Virginia C.N.; De Coo, I. Rene F.M.; Vill, Katharina; Stendel, Claudia; Klopstock, Thomas; Falk, Marni J.; McCormick, Elizabeth M.; McFarland, Robert; De Groot, Imelda J.M.; Smeitink, Jan A.M. (Springer Verlag, 2016-06-06)
    OBJECTIVE : There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric ...
  • Patent ductus venosus presenting with cholestatic jaundice in an infant with successful trans-catheter closure using a vascular plug device 
    Chacko, Anith; Kock, Celeste; Joshi, Jayneel A.; Mitchell, Lindi; Ahmad, Samia (Medknow Publications, 2016-07-01)
    Persistent ductus venosus as a cause of cholestatic jaundice is very rare. Treatment varies, but is usually reserved for infants in whom complications develop. We report a 5-week-old female infant with cholestatic jaundice ...
  • Diagnosing childhood-onset inborn errors of metabolism by next generation sequencing 
    Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E.; Bassett, John K.; Cartwright, Eleanor; Bhaskar, Sanjeev; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew A.M.; Jameson, Elisabeth; Schwahn, Bernd C.; Walter, John H.; Douzgou, Sofia; Murphy, Helen; Hendriksz, Christian J.; Sharma, Reena; Wilcox, Gisela; Crushell, Ellen; Monavari, Ardeshir A.; Martin, Richard; Doolan, Anne; Senniappan, Senthil; Ramsden, Simon C.; Jones, Simon A.; Banka, Siddharth (BMJ Publishing Group, 2017-11)
    BACKGROUND : Inborn errors of metabolism (IEMs) underlie a substantial proportion of paediatric disease burden but their genetic diagnosis can be challenging using the traditional approaches. METHODS : We designed and ...
  • Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease? 
    Meldau, Surita; Riordan, Gillian; Van der Westhuizen, Francois; Elson, Joanna L.; Smuts, Izelle; Pepper, Michael Sean; Soodyall, Himla (Health and Medical Publishing Group, 2016-03)
    The decision of the UK House of Commons in 2015 to endorse the use of pioneering in vitro fertilisation techniques to protect future generations from the risk of mitochondrial DNA (mtDNA) disease has sparked worldwide ...
  • Structural level differences in the mother-to-child HIV transmission rate in South Africa : a multilevel assessment of individual-, health facility-, and provincial-level predictors of infant HIV transmission 
    Woldesenbet, Selamawit A.; Jackson, Debra J.; Lombard, C.J.; Dinh, Thu-Ha; Ramokolo, Vundli; Doherty, Tanya; Sherman, Gayle G.; Pillay, Yogan; Goga, Ameena Ebrahim (Lippincott, Williams & Wilkins, 2017-04)
    OBJECTIVES : In 2010, South Africa reported an early mother-to child transmission (MTCT) rate of 3.5% at 4–8 weeks postpartum. Provincial early MTCT rates ranged from 1.4% [95% confidence interval (CI): 0.1 to 3.4] to 5.9% ...
  • Achalasia : outcome in children 
    Meyer, Anell; Catto-Smith, Anthony; Crameri, Joe; Simpson, Di; Alex, George; Hardikar, Winita; Cameron, Donald; Oliver, Mark (Wiley, 2017-02)
    BACKGROUND : Oesophageal achalasia is well-recognized but relatively rare in children, occasionally appearing as the “triple A” syndrome (with adrenal insufficiency and alacrima). Treatment modalities, as in adult practice, ...
  • Progress with the implementation of kangaroo mother care in four regions in Ghana 
    Bergh, Anne-Marie; Manu, R.; Davy, Karen; Van Rooyen, Elise; Asare, G. Quansah; Woonor-Williams, A.; Dedzo, M.; Twumasi, A.; Nang-Beifubah, A. (Ghana Medical Association, 2013-06)
    AIM : To measure progress with the implementation of kangaroo mother care (KMC) for low birth-weight (LBW) infants at a health systems level. DESIGN : Action research design, with district and regional hospitals as the ...
  • Differences in Niemann-Pick disease type C symptomatology observed in patients of different ages 
    Mengel, Eugen; Pineda, Mercedes; Hendriksz, Christian J.; Walterfang, Mark; Torres, Juan V.; Kolb, Stefan A. (Elsevier, 2017-03)
    BACKGROUND : Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression ismore pronounced in patientswith early onset ...
  • Diagnostic tests for Niemann-pick disease type C (NP-C) : a critical review 
    Hendriksz, Christian J.; Vanier, Marie T.; Bauer, Peter; Coll, Maria J.; Burlina, Alberto; Latour, Philippe; Goizet, Cyril; Welford, Richard W.D.; Marquardt, Thorsten; Kolb, Stefan A.; Bauer, Peter (Elsevier, 2016-08)
    Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due ...
  • Allergies in schools 
    Levin, M.; Van Niekerk, Andre; Katz, H.; Stuurman, C. (Allergy Society of South Africa, 2016-12)
    With the increase of allergic conditions in South Africa, it is becoming more common for schools to have children in their care who suffer from asthma, allergic rhinitis, food allergies, insect allergies, anaphylaxis and ...
  • Cervical cord compression in mucopolysaccharidosis VI (MPS VI) : findings from the MPS VI Clinical Surveillance Program (CSP) 
    Solanki, Guirish A.; Sun, Peter P.; Martin, Kenneth W.; Hendriksz, Christian J.; Lampe, Christina; Guffon, Nathalie; Hung, Annie; Sisic, Zlatko; Shediac, Renée; Harmatz, Paul R. (Elsevier (open access), 2016-08)
    OBJECTIVES : To gain insight into the frequency, age of onset, and management of cervical cord compression in mucopolysaccharidosis VI (MPS VI). METHODS : Cervical spine magnetic resonance imaging (MRI) data and/or cervical ...
  • Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients 
    Giugliani, R.; Harmatz, P.; Jones, S.A.; Mendelsohn, N.J.; Vellodi, A.; Qiu, Y.; Hendriksz, Christian J.; Vijayaraghavan, S.; Whiteman, D.A.H.; PAno, A. (Elsevier, 2017-09)
    OBJECTIVES : This 109-week, nonrandomized, observational study of mucopolysaccharidosis II (MPS II) patients already enrolled in the Hunter Outcome Survey (HOS) (NCT00882921), assessed the long-term immunogenicity of ...
  • Population-level effectiveness of PMTCT Option A on early mother-to-child (MTCT) transmission of HIV in South Africa : implications for eliminating MTCT 
    Goga, Ameena Ebrahim; Dinh, Thu–Ha; Jackson, Debra J.; Lombard, Carl J.; Puren, Adrian; Sherman, Gayle; Ramokolo, Vundli; Woldesenbet, Selamawit A.; Doherty, Tanya; Noveve, Nobuntu; Magasana, Vuyolwethu; Singh, Yagespari; Ramraj, Trisha; Bhardwaj, Sanjana; Pillay, Yogan (Edinburgh University Global Health Society, 2016-12)
    BACKGROUND : Eliminating mother–to–child transmission of HIV (EMTCT), defined as ≤50 infant HIV infections per 100 000 live births, is a global priority. Since 2011 policies to prevent mother–to–child transmission of HIV ...
  • Strategies to improve male involvement in PMTCT option B plus in four African countries : a qualitative rapid appraisal 
    Besada, Donela; Rohde, Sarah; Goga, Ameena Ebrahim; Raphaely, Nika; Daviaud, Emmanuelle; Ramokolo, Vundli; Magasana, Vuyolwethu; Noveve, Nobuntu; Doherty, Tanya (Co-Action Publishing, 2016-11-06)
    BACKGROUND : The World Health Organization recommends that antiretroviral therapy be started as soon as possible, irrespective of stage of HIV infection. This ‘test and treat’ approach highlights the need to ensure that men ...
  • Metabolomics of urinary organic acids in respiratory chain deficiencies in children 
    Reinecke, Carolus J.; Koekemoer, Gerhard; Van der Westhuizen, Francois H.; Louw, Roan; Lindeque, Jeremie Z.; Mienie, Lodewikus J.; Smuts, Izelle (Springer, 2012-04)
    Metabolomic analysis of the urinary organic acids from 39 selected children with defined respiratory chain deficiencies (RCDs) was performed using untargeted gas chromatography–mass spectrometry, revealing the presence ...
  • The wheezy infant and toddler asthmatic - a primary care approach 
    Green, Robin J.; Jeevarathnum, A.C.; Van Niekerk, Andre (Allergy Society of South Africa, 2016-09)
    Wheeze is common in infants and young children. Asthma is but one cause and it is obviously important to exclude or include as it is amenable to specific therapy. It is also obvious that the pre-school or young child is ...
  • Neonatal tetanus associated with skin infection 
    Maharaj, M.; Dungwa, Norman (Health and Medical Publishing Group, 2016-09)
    A 1-week-old infant was brought to a regional hospital with a history of recurrent seizures following lower abdominal septic skin infection. She was found to have neonatal tetanus, and a spatula test was positive. The ...
  • Health-related quality of life in mucopolysaccharidosis : looking beyond biomedical issues 
    Hendriksz, Christian J.; Berger, Kenneth I.; Lampe, Christina; Kircher, Susanne G.; Orchard, Paul J.; Southall, Rebecca; Long, Sarah; Sande, Stephen; Gold, Jeffrey I. (BioMed Central, 2016-08-26)
    The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders ...
  • Classification systems for causes of stillbirth and neonatal death, 2009–2014 : an assessment of alignment with characteristics for an effective global system 
    Leisher, Susannah Hopkins; Teoh, Zheyi; Reinebrant, Hanna; Allanson, Emma; Blencowe, Hannah; Erwich, Jan Jaap; Froen, J. Frederik; Gardosi, Jason; Gordijn, Sanne; Gulmezoglu, A. Metin; Heazell, Alexander E.P.; Korteweg, Fleurisca; Lawn, Joy E.; McClure, Elizabeth M.; Pattinson, Robert Clive; Smith, Gordon C.S.; Tuncalp, Ozge; Wojcieszek, Aleena M.; Flenady, Vicki (BioMed Central, 2016-09-15)
    BACKGROUND : To reduce the burden of 5.3 million stillbirths and neonatal deaths annually, an understanding of causes of deaths is critical. A systematic review identified 81 systems for classification of causes of ...