BACKGROUND Acute renal artery thrombosis is a relatively rare disease.Early diagnosis and emergent treatment can prevent the loss of renal function and the development of hypertension.CASE SUMMARY We report a patient ...BACKGROUND Acute renal artery thrombosis is a relatively rare disease.Early diagnosis and emergent treatment can prevent the loss of renal function and the development of hypertension.CASE SUMMARY We report a patient with acute renal artery thrombosis who presented to our hospital with acute-onset right flank pain and was treated by percutaneous mechanical thrombectomy using the Rotarex device.After 2 mo,right kidney function had recovered slightly.CONCLUSION Renal artery thrombosis may lead to loss of renal function and the development of hypertension.Rotarex mechanical thrombectomy may be a viable treatment option for rapid recanalization of the renal artery in patients with renal artery thrombosis.展开更多
Notch signaling is an essential conserved mechanism through local cell interactions.It regulates cell differentiation,proliferation,and apoptotic,influencing organ formation and morphogenesis.Notch signaling plays a v...Notch signaling is an essential conserved mechanism through local cell interactions.It regulates cell differentiation,proliferation,and apoptotic,influencing organ formation and morphogenesis.Notch signaling plays a vital role in both development of melanocyte during embryogenesis and maintenance of melanocyte stem cells.POFUT1,POGLUT1,ADAM10,presenilin enhancer-2,and nicastrin genes are pathogenic genes of genetic reticular pigmentation diseases Dowling-Degos disease,reticulate acropigmentation of Kitamura,and acne inversa with pigment abnormalities separately.And they are all vital genes in Notch signaling pathway.This group of pigmentary diseases have similarities and overlaps in clinical manifestations and pathological characteristics.We review the essential role of Notch signaling in genetic reticular pigmentary disorders,and discuss the underlying mechanisms behind dysfunction of melanocyte induced by gene mutations in Notch signaling.展开更多
Objective: The exogenous gibberellin(GA) and ethylene(ET) treatment can improve the medicinal ingredients of Salvia miltiorrhiza. Interestingly, many reports pointed out that WRKY transcription factors played an impor...Objective: The exogenous gibberellin(GA) and ethylene(ET) treatment can improve the medicinal ingredients of Salvia miltiorrhiza. Interestingly, many reports pointed out that WRKY transcription factors played an important regulatory role in these treatment responses. However, whether the Sm WRKY mediate these treatment signalings in S. miltiorrhiza remains largely elusive.Methods: qRT-PCR was used for SmWRKY42-like in response to exogenous GA and ethephon(Eth) treatment. The subcellular location of SmWRKY42-like was transiently transformed into onion epidermal cells by particle bombardment. The self-activating activity of SmWRKY42-like was verified in AH109 yeast strain.Results: Sm WRKY42-like was a WRKY family gene in S. miltiorrhiza. The subcellular localization and transcriptional activity results of the SmWRKY42-like protein indicated that SmWRKY42-like mainly enriched in nucleus and might be a transcription factor in S. miltiorrhiza. In the meantime, the SmWRKY42-like gene significantly responded to exogenous GA and Eth treatment.Conclusion: These results collectively indicated the SmWRKY42-like gene functions, as an important hormone-responsive gene, might play a potentially role in ET and GA signaling pathways.展开更多
Objective:Acne inversa is a multifactorial chronic debilitating disease.Genetic factors are involved in 40%of patients,especially the nicastrin(NCSTN)gene.However,the role of the mutated NCSTN gene in the pathogenesis...Objective:Acne inversa is a multifactorial chronic debilitating disease.Genetic factors are involved in 40%of patients,especially the nicastrin(NCSTN)gene.However,the role of the mutated NCSTN gene in the pathogenesis of acne inversa remains unclear.Retinoic acid is recommends to treat moderate to severe acne inversa,therefor we conduct this in vitro research to study the association between NCSTN gene mutation and the retinoic acid signaling pathway in human immortalized skin keratinocyte(HaCaT)cells.Methods:HaCaT cells were infected with a lentivirus-mediated short hairpin RNA(shRNA)expression plasmid specifically targeting the NCSTN gene.Real-time polymerase chain reaction(PCR)and Western blotting were used to detect the interference efficiency of NCSTN.RNA sequencing was used to detect differential genes in the NSCTN-deficient HaCaT cells.Based on bioinformatics analysis and clinical treatment data,the retinoic acid signal pathway was selected for screening.Quantitative PCR was used to verify the changes in the expressions of retinoic acid signaling pathway-related receptors and molecules in the HaCaT cell line after NCSTN silencing.The Student t test and one-way analysis of variance were used to evaluate intergroup differences.Results:Sequencing showed that the NCSTN-shRNA lentiviral recombinant expression plasmid was successfully constructed.After lentivirus infection of HaCaT cells,real-time PCR results showed significantly reduced NCSTN mRNA expression in the interference group compared with the negative control group,and the interference efficiency was 75.0%.Western blotting showed that the inhibition rate of NCSTN protein expression in the shRNA group was 71.7%.RNA sequencing revealed significant differential expression of some genes,and changes in signaling pathways.Compared with the control group,the group with the silenced NCSTN showed significantly decreased expression of retinoic acid receptors(RARα:F=23.482,RARβ:F=603.241,RXRα:F=69.689,and RARRES1:F=167.482,and all P<0.001),and peroxisome proliferator-activated receptorγ(F=8.138,P<0.01).Conclusion:Defective function of the NCSTN gene leads to an impaired retinoic acid signaling pathway in HaCaT cells,which suggests that the retinoic acid signaling pathway may play a role on the onset of acne inversa caused by NCSTN gene mutation.展开更多
Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossi...Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossipowski in 1954, and was first named DDD by Wilson-Jones and Grice in 1978(1)The disease has been reported worldwide and affects both genders equally. As an autosomal dominant pigment disorder, it usually occurs in post-pubertal individuals, and is seldom seen in children(2)However, a Chinese newborn with DDD was reported in 2008(3)In this review, we summarize features of DDD, emphasizing advances in genetics research and looking to the future for further understanding of its etiology and the development of therapeutic methods.展开更多
Introduction Pigmentary disorders are a heterogeneous group of hereditary or acquired disorders characterized by varying degrees of hyperpigmentation and/or hypopigmentation.Pigmentary disorders originate from abnorma...Introduction Pigmentary disorders are a heterogeneous group of hereditary or acquired disorders characterized by varying degrees of hyperpigmentation and/or hypopigmentation.Pigmentary disorders originate from abnormalities in melanocyte development,defects in melanin synthesis,or changes in melanosome transfer.1-2 Several skin pigmentation disorders and diseases are heritable,including dyschromatosis universalis hereditaria(DUH),Dowling-Degos disease(DDD),and albinism.To elucidate the pathogenesis of these heritable pigmentary disorders,a cross-species approach has been widely applied and has resulted in a detailed understanding of melanocyte physiology and pathophysiology.展开更多
Introduction Pyoderma gangrenosum (PG) is a chronic skin disease characterized by progressive lesions that present as painful suppurative ulcers and tend to recur. The pathogenesis of the disease is incompletely under...Introduction Pyoderma gangrenosum (PG) is a chronic skin disease characterized by progressive lesions that present as painful suppurative ulcers and tend to recur. The pathogenesis of the disease is incompletely under-stood;however, 50%to 70%of affected persons have an associated concomitant systemic disease such as inflammatory bowel disease (IBD) (1)Any site of the body can be affected;however, involvement of the oropharynx is rare. Here, we present a patient with disseminated PG with oropharyngeal involvement.展开更多
文摘BACKGROUND Acute renal artery thrombosis is a relatively rare disease.Early diagnosis and emergent treatment can prevent the loss of renal function and the development of hypertension.CASE SUMMARY We report a patient with acute renal artery thrombosis who presented to our hospital with acute-onset right flank pain and was treated by percutaneous mechanical thrombectomy using the Rotarex device.After 2 mo,right kidney function had recovered slightly.CONCLUSION Renal artery thrombosis may lead to loss of renal function and the development of hypertension.Rotarex mechanical thrombectomy may be a viable treatment option for rapid recanalization of the renal artery in patients with renal artery thrombosis.
基金funded by the CAMS Innovation Fund for Medical Sciences(No.2016-I2M-1-002)the Technology Foundation for Selected Overseas Chinese Scholar.
文摘Notch signaling is an essential conserved mechanism through local cell interactions.It regulates cell differentiation,proliferation,and apoptotic,influencing organ formation and morphogenesis.Notch signaling plays a vital role in both development of melanocyte during embryogenesis and maintenance of melanocyte stem cells.POFUT1,POGLUT1,ADAM10,presenilin enhancer-2,and nicastrin genes are pathogenic genes of genetic reticular pigmentation diseases Dowling-Degos disease,reticulate acropigmentation of Kitamura,and acne inversa with pigment abnormalities separately.And they are all vital genes in Notch signaling pathway.This group of pigmentary diseases have similarities and overlaps in clinical manifestations and pathological characteristics.We review the essential role of Notch signaling in genetic reticular pigmentary disorders,and discuss the underlying mechanisms behind dysfunction of melanocyte induced by gene mutations in Notch signaling.
基金support of the National Natural Science Foundation of China(81373908 and 81373536)
文摘Objective: The exogenous gibberellin(GA) and ethylene(ET) treatment can improve the medicinal ingredients of Salvia miltiorrhiza. Interestingly, many reports pointed out that WRKY transcription factors played an important regulatory role in these treatment responses. However, whether the Sm WRKY mediate these treatment signalings in S. miltiorrhiza remains largely elusive.Methods: qRT-PCR was used for SmWRKY42-like in response to exogenous GA and ethephon(Eth) treatment. The subcellular location of SmWRKY42-like was transiently transformed into onion epidermal cells by particle bombardment. The self-activating activity of SmWRKY42-like was verified in AH109 yeast strain.Results: Sm WRKY42-like was a WRKY family gene in S. miltiorrhiza. The subcellular localization and transcriptional activity results of the SmWRKY42-like protein indicated that SmWRKY42-like mainly enriched in nucleus and might be a transcription factor in S. miltiorrhiza. In the meantime, the SmWRKY42-like gene significantly responded to exogenous GA and Eth treatment.Conclusion: These results collectively indicated the SmWRKY42-like gene functions, as an important hormone-responsive gene, might play a potentially role in ET and GA signaling pathways.
基金funded by the National Natural Science Foundation of China(No.81472872)the CAMS Innovation Fund for Medical Sciences(No.2016-I2M-1-002)the Central Universities Fundamental Research Funds in PUMC(No.3332019160).
文摘Objective:Acne inversa is a multifactorial chronic debilitating disease.Genetic factors are involved in 40%of patients,especially the nicastrin(NCSTN)gene.However,the role of the mutated NCSTN gene in the pathogenesis of acne inversa remains unclear.Retinoic acid is recommends to treat moderate to severe acne inversa,therefor we conduct this in vitro research to study the association between NCSTN gene mutation and the retinoic acid signaling pathway in human immortalized skin keratinocyte(HaCaT)cells.Methods:HaCaT cells were infected with a lentivirus-mediated short hairpin RNA(shRNA)expression plasmid specifically targeting the NCSTN gene.Real-time polymerase chain reaction(PCR)and Western blotting were used to detect the interference efficiency of NCSTN.RNA sequencing was used to detect differential genes in the NSCTN-deficient HaCaT cells.Based on bioinformatics analysis and clinical treatment data,the retinoic acid signal pathway was selected for screening.Quantitative PCR was used to verify the changes in the expressions of retinoic acid signaling pathway-related receptors and molecules in the HaCaT cell line after NCSTN silencing.The Student t test and one-way analysis of variance were used to evaluate intergroup differences.Results:Sequencing showed that the NCSTN-shRNA lentiviral recombinant expression plasmid was successfully constructed.After lentivirus infection of HaCaT cells,real-time PCR results showed significantly reduced NCSTN mRNA expression in the interference group compared with the negative control group,and the interference efficiency was 75.0%.Western blotting showed that the inhibition rate of NCSTN protein expression in the shRNA group was 71.7%.RNA sequencing revealed significant differential expression of some genes,and changes in signaling pathways.Compared with the control group,the group with the silenced NCSTN showed significantly decreased expression of retinoic acid receptors(RARα:F=23.482,RARβ:F=603.241,RXRα:F=69.689,and RARRES1:F=167.482,and all P<0.001),and peroxisome proliferator-activated receptorγ(F=8.138,P<0.01).Conclusion:Defective function of the NCSTN gene leads to an impaired retinoic acid signaling pathway in HaCaT cells,which suggests that the retinoic acid signaling pathway may play a role on the onset of acne inversa caused by NCSTN gene mutation.
基金the National Natural Science Foundation of China(81472872)the Project of Six Talent Peaks(WSN-126)the CAMS Innovation Fund for Medical Sciences(2016-I2M-1-002).
文摘Introduction Dowling-Degos disease (DDD) was first described as a benign form of acanthosis nigricans by Dowling and Freudenthal in 1938, then referred to as'dermatose reticulée des plis'by Degos and Ossipowski in 1954, and was first named DDD by Wilson-Jones and Grice in 1978(1)The disease has been reported worldwide and affects both genders equally. As an autosomal dominant pigment disorder, it usually occurs in post-pubertal individuals, and is seldom seen in children(2)However, a Chinese newborn with DDD was reported in 2008(3)In this review, we summarize features of DDD, emphasizing advances in genetics research and looking to the future for further understanding of its etiology and the development of therapeutic methods.
文摘Introduction Pigmentary disorders are a heterogeneous group of hereditary or acquired disorders characterized by varying degrees of hyperpigmentation and/or hypopigmentation.Pigmentary disorders originate from abnormalities in melanocyte development,defects in melanin synthesis,or changes in melanosome transfer.1-2 Several skin pigmentation disorders and diseases are heritable,including dyschromatosis universalis hereditaria(DUH),Dowling-Degos disease(DDD),and albinism.To elucidate the pathogenesis of these heritable pigmentary disorders,a cross-species approach has been widely applied and has resulted in a detailed understanding of melanocyte physiology and pathophysiology.
基金National Nature Science Foundation of China(81472872)CAMS Innovation Fund for Medical Sciences(CIFMS, 2016-I2M-1-002).
文摘Introduction Pyoderma gangrenosum (PG) is a chronic skin disease characterized by progressive lesions that present as painful suppurative ulcers and tend to recur. The pathogenesis of the disease is incompletely under-stood;however, 50%to 70%of affected persons have an associated concomitant systemic disease such as inflammatory bowel disease (IBD) (1)Any site of the body can be affected;however, involvement of the oropharynx is rare. Here, we present a patient with disseminated PG with oropharyngeal involvement.
