Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft p...Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft palate （NSCLP）tlj. Thymidylate synthase （TS） is a folate-dependent enzyme that catalyzes methylation of 2＇-deoxyuridine-5＇-monophosphate （dUMP） to 2＇-deox- ythymidine-5＇-monophosphate （dTMP）, a rate-limiting step in DNA synthesis,展开更多
Aim:Hepatocellular carcinoma(HCC)is the fourth most common type of cancer and the third leading cause of cancer-related mortality.Sorafenib is an oral multikinase inhibitor that is used for unresectable advanced HCC.I...Aim:Hepatocellular carcinoma(HCC)is the fourth most common type of cancer and the third leading cause of cancer-related mortality.Sorafenib is an oral multikinase inhibitor that is used for unresectable advanced HCC.It is only approved systemic therapy for advanced HCC.Methods:A retrospective prospective study conducted in a multispeciality hospital with 50 patients who received sorafenib.The primary outcome of the study was to find out the survival rate of patients treated with sorafenib.The secondary outcome of the study was to explore the efficacy and safety of sorafenib in a progression of HCC.Results:The median overall survival in the Indian population was found as 114 days(3.8 months)after sorafenib therapy.The efficacy of the drug sorafenib was assessed by the survival days which were based on the changes in laboratory values such as haematological and clinical biochemistry.The adverse drug reaction documented in this study was vomiting,abdominal pain;fatigue;anorexia;hyperbilirubinemia;diarrhoea;hand-foot syndrome;rash;rectal bleeding;insomnia;constipation;thrombocytopenia and abdominal discomfort.Conclusion:Sorafenib improves the overall survival of the patients with advanced HCC in Indian population up to 3.8 months.It is a safe and effective treatment for patients with advanced HCC in Indian population.The survival of patients was found to be depended on the liver function.展开更多
Background:Stargardt disease 1(STGD1;MIM 248200)is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4.This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine ...Background:Stargardt disease 1(STGD1;MIM 248200)is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4.This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine.The purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian population.Methods:A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south India.Ophthalmic examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG grouping.Genetic analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome sequencing.Results:This study identified disease-causing mutations in ABCA4 in 75%(21/28)of patients,7%(2/28)exhibited benign variants and 18%(5/28)were negative for the disease-causing mutation.Conclusion:This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients(STGD1).Our findings highlighted the presence of two novel missense mutations and an(in/del,single base pair deletion&splice variant)in ABCA4.However,genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.展开更多
基金funding from the Indian Council of Medical Research(ICMR),Government of India(Project Ref.No.56/15/2007-BMS)
文摘Dear Editor： Increased homocysteine levels due to vitamin B6 or B12 deficiency or genetic defects in folate pathway genes are associated with an increased incidence of non-syndromic cleft lip with or without cleft palate （NSCLP）tlj. Thymidylate synthase （TS） is a folate-dependent enzyme that catalyzes methylation of 2＇-deoxyuridine-5＇-monophosphate （dUMP） to 2＇-deox- ythymidine-5＇-monophosphate （dTMP）, a rate-limiting step in DNA synthesis,
文摘Aim:Hepatocellular carcinoma(HCC)is the fourth most common type of cancer and the third leading cause of cancer-related mortality.Sorafenib is an oral multikinase inhibitor that is used for unresectable advanced HCC.It is only approved systemic therapy for advanced HCC.Methods:A retrospective prospective study conducted in a multispeciality hospital with 50 patients who received sorafenib.The primary outcome of the study was to find out the survival rate of patients treated with sorafenib.The secondary outcome of the study was to explore the efficacy and safety of sorafenib in a progression of HCC.Results:The median overall survival in the Indian population was found as 114 days(3.8 months)after sorafenib therapy.The efficacy of the drug sorafenib was assessed by the survival days which were based on the changes in laboratory values such as haematological and clinical biochemistry.The adverse drug reaction documented in this study was vomiting,abdominal pain;fatigue;anorexia;hyperbilirubinemia;diarrhoea;hand-foot syndrome;rash;rectal bleeding;insomnia;constipation;thrombocytopenia and abdominal discomfort.Conclusion:Sorafenib improves the overall survival of the patients with advanced HCC in Indian population up to 3.8 months.It is a safe and effective treatment for patients with advanced HCC in Indian population.The survival of patients was found to be depended on the liver function.
基金This work was funded by the Aravind Eye Care System-Madurai,India.
文摘Background:Stargardt disease 1(STGD1;MIM 248200)is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4.This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine.The purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian population.Methods:A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south India.Ophthalmic examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG grouping.Genetic analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome sequencing.Results:This study identified disease-causing mutations in ABCA4 in 75%(21/28)of patients,7%(2/28)exhibited benign variants and 18%(5/28)were negative for the disease-causing mutation.Conclusion:This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients(STGD1).Our findings highlighted the presence of two novel missense mutations and an(in/del,single base pair deletion&splice variant)in ABCA4.However,genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.
