Browsing Research Articles (Paediatrics and Child Health) by Type "Postprint Article"

Browsing Research Articles (Paediatrics and Child Health) by Type "Postprint Article"

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  • 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients 
    Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; Van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; De Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; Van der Westhuizen, Francois Hendrikus; Thorburn, David; Smeitink, Jan A.M.; Morava, Eva; Wevers, Ron A. (Springer, 2013-11)
    Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. ...
  • Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia 
    Van der Westhuizen, Francois Hendrikus; Smet, Joel; Levanets, Oksana; Meissner-Roloff, Madelein; Louw, Roan; Van Coster, Rudy; Smuts, Izelle (Springer, 2010-01)
    A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre syndrome (KSS). Magnetic ...
  • 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, ...
  • Acute infectious diarrhea lessons learned from the past? 
    Cleghorn, Geoffrey; Boey, Christopher; Wittenberg, Dankwart F.; Fuchs, George; Oliver, Mark; Buttery, Jim; Polanco, Isabel; Roman, Enriqueta (Lippincott Williams & Wilkins, 2012-05)
    No Abstract
  • Age at diagnosis as a prognostic factor in South African children with neuroblastoma 
    Van Heerden, Jaques; Esterhuizen, Tonya M.; Hendricks, Marc; Poole, Janet; Buchner, Ane; Naidu, Gita; Du Plessis, Jan; Van Emmenes, Barry; Uys, Ronelle; Hadley, G.P.; Kruger, Mariana (Wiley, 2021-04)
    PURPOSE : Low- and middle-income countries (LMICs) reported a higher median age at diagnosis of neuroblastoma (NB) compared to high-income countries. The aim was to determine if the optimal age at diagnosis, which maximizes ...
  • Assessment of nutritional status in children with cancer : a narrative review 
    Viani, Karina; Trehan, Amita; Manzoli, Bianca; Schoeman, Judy (Wiley, 2020-06)
    A child's appropriate development stems in large part from proper nutrition. Malnutrition is an adverse prognostic factor in children with cancer, and its prevalence is highly variable. Currently, there is no standardized ...
  • The association of clinical characteristics and tumour markers with image-defined risk factors in the management of neuroblastoma in South Africa 
    Van Heerden, Jaques; Esterhuizen, Tonya Marianne; Hendricks, Marc; Poole, Janet; Buchner, Ane; Naidu, Gita; Du Plessis, Jan; Van Emmenes, Barry; Van Zyl, Anel; Mathews, Elmarie; Kruger, Mariana (Elsevier, 2022-04)
    AIMS : Image-defined risk factors (IDRFs) in neuroblastoma predict surgical complications and management outcomes. As there is a lack of data regarding the association of IDRFs with clinical and pathological factors, this ...
  • Association of prenatal placental function with anthropometry and body composition through 2 years of age in South African infants : the UmbiBaby study 
    Nel, Sanja; Feucht, Ute Dagmar; Mulol, Helen; Wenhold, Friedeburg Anna Maria (Elsevier, 2023-04)
    BACKGROUND : Placental insufficiency negatively impacts fetal growth and body composition (BC), potentially affecting lifelong health. Placental insufficiency, detectable as an abnormal umbilical artery resistance index ...
  • Birth HIV testing and paediatric treatment programmes 
    Goga, Ameena Ebrahim (Elsevier, 2018-12)
    In The Lancet HIV , Karl-Günter Technau and colleagues report on 12-month outcomes of 88 HIV-infected neonates. The infants were identified through birth HIV testing at a well resourced, academic, public maternity hospital ...
  • Breakthrough SARS-CoV-2 infections during periods of delta and omicron predominance, South Africa 
    Goga, Ameena Ebrahim; Bekker, Linda‑Gail; Garrett, N.; Reddy, Tarylee; Yende-Zuma, Nonhlanhla; Fairall, Lara; Moultrie, Harry; Takalani, Azwidihwi; Trivella, Valentina; Faesen, Mark; Bailey, Veronique C.; Seocharan, Ishen; Gray, Glenda E. (Elsevier, 2022-07)
    No abstract available.
  • Cardiac rhythm abnormalities - an underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses 
    Ayuna, Ahmed; Stepien, Karolina M.; Hendriksz, Christian J.; Balerdi, Matthew; Garg, Anupam; Woolfson, Peter (Elsevier, 2020-06)
    Patients with Mucopolysaccharidosis (MPS) have an increased risk of cardiovascular complications, conduction tissue abnormalities and arrhythmia; all rare but underestimated. It has been reported that conduction system ...
  • Challenges in diagnosing and managing adult patients with urea cycle disorders 
    Stepien, Karolina M.; Geberhiwot, Tarekegn; Hendriksz, Christian J.; Treacy, Eileen P. (Wiley, 2019-11)
    Urea cycle disorders (UCD) are a group of rare inherited metabolic conditions of amino acid catabolism caused by an enzyme deficiency within the hepatic ammonia detoxification pathway. The presentation of these disorders ...
  • Change in IgG and evolution of lung function in children with cystic fibrosis 
    Proesmans, M.; Els, Carla; Vermeulen, F.; De Boeck, K. (Elsevier, 2011-03)
    Reports from the seventies and eighties have shown that cystic fibrosis (CF) patients with severe lung disease have high levels of IgG and that this is associated with worse prognosis. We decided to explore IgG level as ...
  • Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease 
    Van der Walt, Elizna M.; Smuts, Izelle; Taylor, Robert W.; Elson, Joanna L.; Turnbull, Douglass M.; Louw, Roan; Van der Westhuizen, Francois Hendrikus (Nature, 2012-06)
    Mitochondrial disease can be attributed to both mitochondrial and nuclear gene mutations. It has a heterogeneous clinical and biochemical profile, which is compounded by diversity of the genetic background. Disease-based ...
  • Combined tarsal and carpal tunnel syndrome in Mucolipidosis Type III : a case study and review 
    Smuts, Izelle; Potgieter, Denise; Van der Westhuizen, Francois Hendrikus (Blackwell, 2008)
    Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from uridine 5'-diphosphate-N-acetylglucosamine: lysosomal hydrolase N-acetyl-1-phosphotransferase or UDP-GlcNAc ...
  • Comparison of doctor and patient assessments of asthma control 
    Greenblatt, M.; Galpin, J.S.; Hill, C.; Feldman, Charles; Green, Robin J. (Elsevier, 2010-03)
    INTRODUCTION: The objective of asthma management is to control the condition. However, world-wide surveys reveal that only 5% of asthmatics are well controlled. One reason for this phenomenon is the fact that patients and ...
  • Costs of admission for paediatric pneumonia in a setting of human immunodeficiency virus infection 
    Kitchin, Omolemo P.; Wessels, Francois; Masekela, Refiloe; Becker, Piet J.; Green, Robin J. (International Union Against Tuberculosis and Lung Disease, 2011-12)
    BACKGROUND: Pneumonia in South African children remains a major public health concern. The costs of hospital admission for pneumonia should be determined, especially where human immunodeficiency virus (HIV) infection ...
  • Development of a subaortic aneurysm secondary to disseminated tuberculosis in a child 
    Takawira, Farirai F.; Joshi, Jayneel A.; Du Plessis, Dirk J. (Elsevier, 2010-08)
    Subvalvular aneurysms of the left ventricle are very rare and often the cause is uncertain. Most of the cases of subvalvular left ventricular aneurysms described in the literature are due to congenital weakness of the ...
  • 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 ...
  • The dilemma of diagnosing coenzyme Q10 deficiency in muscle 
    Louw, Roan; Smuts, Izelle; Wilsenach, Kimmey-Li; Jonck, Lindi-Maryn; Schoonen, Maryke; Van der Westhuizen, Francois H. (Elsevier, 2018-09)
    BACKGROUND : Coenzyme Q10 (CoQ10) is an important component of the mitochondrial respiratory chain (RC) and is critical for energy production. Although the prevalence of CoQ10 deficiency is still unknown, the general ...