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  1. Lee, W.S., Boey, C.C.M., Koh, M.T.
    MyJurnal
    From November 1996 to December 1997, 24 infants with neonatal cholestasis were referred to the Department of Paediatrics, University of Malaya Medical Center, Kuala Lumpur for further investigations. Nineteen had neonatal hepatitis. There was considerable delay in referral of infants with cholestasis; the mean age of referral was 63.7 days. None had a positive family history of neonatal hepatitis. All infant had hepatomegaly and ten had splenomegaly. The stools were slightly pale in thirteen, persistently acholic in three and normally pigmented in three infants. Liver synthetic functions were normal in most of the infants. Cytomegalovirus (CMV) IgM antibodies were positive in seven but none were positive for toxoplasma or rubella. al - antitrypsin deficiency, hypothyroidism, and galactosaemia were excluded in all infants. DISIDA scans were performed in seventeen infants, being non-excretory in eight. Liver biopsies were performed in fifteen infants, showing neonatal hepatitis in fourteen, while histological features of large duct obstruction was seen in one. In majority of infants (eight out of ten) the jaundice disappeared by six months. Two infants had progressive jaundice and liver function impairment.
    Matched MeSH terms: Galactosemias
  2. Lee, W.S., Lok, F.Y.L.
    MyJurnal
    A 46 day old female Chinese infant was referred for fail-ure to thrive, jaundice, hepatomegaly and bilateral cataracts. She had vomiting,blood stained stools and severe unconjugated hyperbilirubinaemia soon after birth. The jaundice persisted. At one month of age, pale stools, firm hepatomegaly and bilateral cataracts were noted. Radionuclide hepatobiliary scintigraphy per-formed at another hospital excluded biliary atresia. Investigations showed cholestasis but a negative sero-logical screening for congenital infections. A presump-tive diagnosis of galactosaemia was made and the infant was started on lactose free formula. A deficient red blood cell galactose- 1 -phosphate uridyltransferase (GALT) activity was demonstrated later. Review eight months after the initial diagnosis showed a thriving infant with no jaundice, but persisting cataracts and firm enlarged liver. A high index of clinical suspicion, labo-ratory confirmation of a deficient GALT activity and prompt withdrawal of lactose from diet are necessary to avoid any delay in diagnosis and management of this condition.
    Matched MeSH terms: Galactosemias
  3. Abdul Nasir NA, Agarwal R, Vasudevan S, Tripathy M, Alyautdin R, Ismail NM
    Mol Vis, 2014;20:822-35.
    PMID: 24940038
    Oxidative and nitrosative stress underlies cataractogenesis, and therefore, various antioxidants have been investigated for anticataract properties. Several vitamin E analogs have also been studied for anticataract effects due to their antioxidant properties; however, the anticataract properties of tocotrienols have not been investigated. In this study, we investigated the effects of topically applied tocotrienol on the onset and progression of cataract and lenticular oxidative and nitrosative stress in galactosemic rats.
    Matched MeSH terms: Galactosemias/complications*; Galactosemias/metabolism
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