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Gaucher's disease is a rare human genetic condition caused by hereditary deficiency of that enzyme.

People with Gaucher's -- which can manifest itself with fatigue, bruising, anaemia, low blood platelets and an enlarged liver and spleen -- often are treated with drugs and bone marrow transplants but still face pain and often poor long-range health prospects.

Scientists in Brazil have genetically modified a goat to produce milk with an enzyme to treat a rare genetic disorder, O Estado de Sao Paulo newspaper reported Tuesday.

The goat, named "Gluca," is the first of its kind in South America. It has been genetically modified to produce the enzyme glucocerebrosidase.

http://www.ncbi.nlm.nih.gov/pubmed/23847109
Rockey DC, Vierling JM, Mantry P, Ghabril M, Brown RS Jr, Alexeeva O, Zupanets IA, Grinevich V, Baranovsky A, Dudar L, Fadieienko G, Kharchenko N, Klaryts'ka I, Morozov V, Grewal P, McCashland T, Reddy KG, Reddy KR, Syplyviy V, Bass NM, Dickinson K, Norris C, Coakley D, Mokhtarani M, Scharschmidt BF; HALT-HE Study Group. Randomized, double-blind, controlled study of glycerol phenylbutyrate inhepatic encephalopathy. Hepatology. 2014; 59(3):1073-83.

Abstract

Published on: 
Mar-2014

http://7thspace.com/headlines/455326/

Wilson's disease (WD) evolves rapidly and is fatal if untreated. The treatment of WD patients with mild liver disease is not clearly defined.

To address this issue, we evaluated long-term outcomes of three treatment regimens (D-penicillamine, zinc or both) in patients diagnosed in childhood.

Methods: We retrospectively evaluated efficacy, compliance and reasons for treatment discontinuation in 42 WD patients (median age at diagnosis: 6 years; median follow-up: 12 years) with mild liver disease. Treatment duration for each treatment block until a medication change or completion of follow-up was analyzed.

Events of change of treatment were evaluated using Kaplan-Meier analysis.

Published on: 
Mar-2014

http://www.indianpediatrics.net/mar2014/mar-203-210.htm
Vidyut Bhatia, *Ashish Bavdekar, John Matthai, #YogeshWaikar and AnupamSibal. Management of Neonatal Cholestasis: Consensus Statement of the Pediatric Gastroenterology Chapter of Indian Academy of Pediatrics. Indian pediatrics. 2014; 51(3): 203-10

Justification: Neonatal cholestasis is an important cause of chronic liver disease in young children. Late referral and lack of precise etiological diagnosis are reasons for poor outcome in substantial number of cases in India. There is a need to create better awareness among the pediatricians, obstetricians and primary care physicians on early recognition, prompt evaluation and referral to regional centers.

Published on: 
Mar-2014

http://www.ncbi.nlm.nih.gov/pubmed/23907731

Farias AQ, Silvestre OM, Garcia-Tsao G, da Costa Seguro LF, de Campos Mazo DF, Bacal F, Andrade JL, Gonçalves LL, Strunz C, Ramos DS, Polli D, Pugliese V, Rodrigues AC, Furtado MS, Carrilho FJ, D'Albuquerque LA. Serum B-type natriuretic peptide in the initial workup of patients with new onset ascites: a diagnostic accuracy study. Hepatology. 2014; 59(3): 1043-51.

Abstract

Published on: 
Mar-2014

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