BACKGROUND This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy(LHON)in a pair of identical twins with the 14484 point mutat...BACKGROUND This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy(LHON)in a pair of identical twins with the 14484 point mutation.CASE SUMMARY Twin patients with the 14484 point mutation were studied for zygosity by using the Short Tandem Repeats Typing system.For the monozygotic twins,the radioactive restriction and densitometric analyses were used to quantitate the heteroplasmy level for the 14484 point mutation.The mitochondrial genome was analyzed to determine influential factors by mitochondrial deoxyribonucleic acid(DNA)sequencing,denaturing high-performance liquid chromatography and next generation sequencing.For the dizygotic twins,the nuclear DNA was analyzed.The twins with 14484 LHON were monozygotic with homoplasmy.No difference in the point mutation in mitochondrial DNA was found.No modifying genes that potentially influenced the disparity in phenotypic expression of LHON were detected in these twins.CONCLUSION This 11-year follow-up of monozygotic twins showed additional genetic modifications and epigenetic factors are possibly associated with discordance for LHON.展开更多
Objective To explore the expression of novel protein kinase C ε ( PKCε) in normal prostate ( NP) tissue, benign prostate hyperplasia ( BPH) ,pericancerous ( PC) tissue and prostate cancer ( Pca) ,and study its corre...Objective To explore the expression of novel protein kinase C ε ( PKCε) in normal prostate ( NP) tissue, benign prostate hyperplasia ( BPH) ,pericancerous ( PC) tissue and prostate cancer ( Pca) ,and study its correlation with the grade and stage of Pca. Methods Ten NP slides,ten BPH slides,ten PC slides and 43 Pca展开更多
This study was supported by grants from Science and Technology Committee of Jiangsu and Health Bureau of Jiangsu. Objective To evaluate the characteristics of P glycoprotein(P gp) expression of acute non lym...This study was supported by grants from Science and Technology Committee of Jiangsu and Health Bureau of Jiangsu. Objective To evaluate the characteristics of P glycoprotein(P gp) expression of acute non lymphocytic leukemia (ANLL) at different status and the prognostic and biological features in ANLL at diagnosis. Methods Monoclonal antibody UIC2 and indirect immunofluorescence assay by flow cytometry were used to determine P gp expression of 169 patients with ANLL, including 152 previously untreated, 7 refractory and 10 at remission. Results P gp was expressed in 28.9% of the previously untreated ANLL cases and P gp was lower than that in 71.4% of the refractory cases (P<0.05). No P gp expression was found in the patients at remission. For previously untreated ANLL, P gp was highly expressed in hybrid acute leukemia (66.7%) and acute monoblastic leukemia (47.4%). P gp expression was highly associated with surface markers [cluster of differentiation (CD) 34, CD7, CD14, CD42b and CD61] and unfavorable cytogenetic abnormalities. About 23% of P gp +ANLL obtained complete remission, which was significantly lower than that (76%) in P gp - cases. Conclusions P gp expression is higher in refractory ANLL cases than that in cases at diagnosis or at remission. P gp is an index of poor prognosis in adults with ANLL. P gp +ANLL cases have unique clinical and biological characteristics.展开更多
Objective To investigate EVI1 expression and its associated clinical and cytogenetic characteristics in 447acute myeloid leukemia(AML)patients.Methods EVI1expressions were measured in 447 AML cases from Jan.2007 to Ap...Objective To investigate EVI1 expression and its associated clinical and cytogenetic characteristics in 447acute myeloid leukemia(AML)patients.Methods EVI1expressions were measured in 447 AML cases from Jan.2007 to Apr.2015 to couple with clinical。展开更多
Objective To investigate the expressions of CD107a and CD107b on CD8+T lymphocytes in chronic hepatitis B(CHB)patients with different immune status.Methods Forty-three CHB patients were collected and classified accord...Objective To investigate the expressions of CD107a and CD107b on CD8+T lymphocytes in chronic hepatitis B(CHB)patients with different immune status.Methods Forty-three CHB patients were collected and classified according to the immune status(23 cases of atypical status,10 cases of immune tolerance and 10 cases of immune clearance).Another 10 cases were selected展开更多
基金Supported by the Faculty of Medicine Siriraj Hospital,Mahidol University,No.(IO)R015731040。
文摘BACKGROUND This study aimed to explore clinical and molecular factors that cause discordance for clinical expression of Leber’s hereditary optic neuropathy(LHON)in a pair of identical twins with the 14484 point mutation.CASE SUMMARY Twin patients with the 14484 point mutation were studied for zygosity by using the Short Tandem Repeats Typing system.For the monozygotic twins,the radioactive restriction and densitometric analyses were used to quantitate the heteroplasmy level for the 14484 point mutation.The mitochondrial genome was analyzed to determine influential factors by mitochondrial deoxyribonucleic acid(DNA)sequencing,denaturing high-performance liquid chromatography and next generation sequencing.For the dizygotic twins,the nuclear DNA was analyzed.The twins with 14484 LHON were monozygotic with homoplasmy.No difference in the point mutation in mitochondrial DNA was found.No modifying genes that potentially influenced the disparity in phenotypic expression of LHON were detected in these twins.CONCLUSION This 11-year follow-up of monozygotic twins showed additional genetic modifications and epigenetic factors are possibly associated with discordance for LHON.
文摘Objective To explore the expression of novel protein kinase C ε ( PKCε) in normal prostate ( NP) tissue, benign prostate hyperplasia ( BPH) ,pericancerous ( PC) tissue and prostate cancer ( Pca) ,and study its correlation with the grade and stage of Pca. Methods Ten NP slides,ten BPH slides,ten PC slides and 43 Pca
文摘This study was supported by grants from Science and Technology Committee of Jiangsu and Health Bureau of Jiangsu. Objective To evaluate the characteristics of P glycoprotein(P gp) expression of acute non lymphocytic leukemia (ANLL) at different status and the prognostic and biological features in ANLL at diagnosis. Methods Monoclonal antibody UIC2 and indirect immunofluorescence assay by flow cytometry were used to determine P gp expression of 169 patients with ANLL, including 152 previously untreated, 7 refractory and 10 at remission. Results P gp was expressed in 28.9% of the previously untreated ANLL cases and P gp was lower than that in 71.4% of the refractory cases (P<0.05). No P gp expression was found in the patients at remission. For previously untreated ANLL, P gp was highly expressed in hybrid acute leukemia (66.7%) and acute monoblastic leukemia (47.4%). P gp expression was highly associated with surface markers [cluster of differentiation (CD) 34, CD7, CD14, CD42b and CD61] and unfavorable cytogenetic abnormalities. About 23% of P gp +ANLL obtained complete remission, which was significantly lower than that (76%) in P gp - cases. Conclusions P gp expression is higher in refractory ANLL cases than that in cases at diagnosis or at remission. P gp is an index of poor prognosis in adults with ANLL. P gp +ANLL cases have unique clinical and biological characteristics.
文摘Objective To investigate EVI1 expression and its associated clinical and cytogenetic characteristics in 447acute myeloid leukemia(AML)patients.Methods EVI1expressions were measured in 447 AML cases from Jan.2007 to Apr.2015 to couple with clinical。
文摘Objective To investigate the expressions of CD107a and CD107b on CD8+T lymphocytes in chronic hepatitis B(CHB)patients with different immune status.Methods Forty-three CHB patients were collected and classified according to the immune status(23 cases of atypical status,10 cases of immune tolerance and 10 cases of immune clearance).Another 10 cases were selected
