Research Articles (Paediatrics and Child Health)

Research Articles (Paediatrics and Child Health)

 

Recent Submissions

  • Smuts, Izelle; Koene, Saskia; Hendriks, Jan C.M.; Dirks, Ilse; De Boer, Lonneke; De Vries, Maaike C.; Janssen, Mirian C.H.; 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 ...
  • 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 ...
  • Hendriksz, Christian J.; 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; 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, 2017-03)
    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 ...
  • Smuts, Izelle; Pepper, Michael Sean; Meldau, Surita; Riordan, Gillian; Van der Westhuizen, Francois; Elson, Joanna L.; 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 ...
  • Goga, Ameena Ebrahim; Woldesenbet, Selamawit A.; Jackson, Debra J.; Lombard, C.J.; Dinh, Thu-Ha; Ramokolo, Vundli; Doherty, Tanya; Sherman, Gayle G.; Pillay, Yogan (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% ...
  • 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, ...
  • Bergh, Anne-Marie; Davy, Karen; Van Rooyen, Elise; Manu, R.; 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 ...
  • Hendriksz, Christian J.; Mengel, Eugen; Pineda, Mercedes; 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 ...
  • 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. (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 ...
  • Van Niekerk, Andre; Levin, M.; 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 ...
  • Hendriksz, Christian J.; Solanki, Guirish A.; Sun, Peter P.; Martin, Kenneth W.; 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 ...
  • Hendriksz, Christian J.; Giugliani, R.; Harmatz, P.; Jones, S.A.; Mendelsohn, N.J.; Vellodi, A.; Qiu, Y.; 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 ...
  • Goga, Ameena Ebrahim; Dinh, Thu–Ha; Jackson, Debra J.; Lombard, Carl J.; Puren, Adrian; Sherman, Gayle; Ramokolo, Vundli; Woldesenbet, Selamawit; 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 ...
  • Goga, Ameena Ebrahim; Besada, Donela; Rohde, Sarah; 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 ...
  • Smuts, Izelle; Reinecke, Carolus J.; Koekemoer, Gerhard; Van der Westhuizen, Francois H.; Louw, Roan; Lindeque, Jeremie Z.; Mienie, Lodewikus J. (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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Pattinson, Robert Clive; 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; McClure, Elizabeth M.; 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 ...
  • Abbott, Salome; Green, Robin J.; Annamalay, Alicia A.; Sikazwe, Chisha; Khoo, Siew-Kim; Bizzintino, Joelene; Zhang, Guicheng; Laing, Ingrid; Chidlow, Glenys R.; Smith, David W.; Gern, James; Goldblatt, Jack; Lehmann, Deborah; Le Souëf, Peter N. (Elsevier, 2016-08)
    BACKGROUND : Human rhinovirus (RV) is the most common respiratory virus and has been associated with frequent and severe acute lower respiratory infections (ALRI). The prevalence of RV species among HIV-infected children ...

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