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Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families

World Journal of Gastroenterology 2008年第29期14卷 4672-4676页

作者： S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi p finny N Thomas M Chandy G Kurian GM Chandy Department of GI Sciences Christian Medical CollegeVellore Tamil Nadu India Department of Haematology Christian Medical CollegeVellore Tamil Nadu India Department of Medical Gastroenterology Stanley Medical College Chennai Tamil Nadu India Department of pediatrics Institute of Child HealthChennai Tamil Nadu India Department of Endocrinology Christian Medical CollegeVellore Tamil Nadu India

AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATp7B gene and flanking introns were amplified by polymerase chain reaction (pCR). The pCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATp7B mutations were found in the four families. ATp7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATp7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATp7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one ***: We report concordance between ATp7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATp7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype.

关键词： Wilson's disease Genotype phenotypecorrelation

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Effectiveness of non-pyrimethamine-based regimens for toxoplasma encephalitis:A systematic and meta-synthesis study

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Asian pacific Journal of Tropical Medicine 2022年第3期15卷 106-113页

作者： David Susanto Arthur H.p.Mawuntu finny Warouw Windy M.V.Wariki Neurology Department Faculty of MedicineSam Ratulangi University/R.D.Kandou HospitalManadoIndonesia Department of Community Medicine Faculty of MedicineSam Ratulangi UniversityManadoIndonesia

Objective:To examine the differences in effectiveness and side effects between pyrimethamine-based and non-pyrimethamine-based regimens for toxoplasma encephalitis since the availability of pyrimethamine in Indonesia is currently limited due to its withdrawal from the ***:A systematic review and meta-synthesis study that was carried out by following a protocol guided by the preffered Reporting Items for Systematic Review and Meta-analysis(pRISMA).Effectiveness measures included clinical improvement,mortality,and radiological *** evaluated selected articles narratively because of the limitations of *** risk of bias in RCTs was assessed using the Cochrane Risk of Bias tool for RCT(ROB 2.0)and cohort studies were assessed using the Risk of Bias In Non-Randomized Studies of Interventions(ROBINS-1)*** quality was assessed using the Gradepro ***:We included two retrospective cohort studies and one *** outcome assessment in these three studies did not show significant difference in effectiveness between pyrimethamine-based and non-pyrimethamine-based regimens for toxoplasma encephalitis ***,drug side effects were consistently higher in the pyrimethamine-based ***:This study has a high risk of *** quality of the research also has a low recommendation ***,the results may be considered for application if a standard regimen is not available.

关键词： Toxoplasma encephalitis Alternative treatment Without pyrimethamine Systematic review Meta-synthesis

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