Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame del...Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame deletion mutation c.17779del TAC of neurofibromatosis type 1 in a Chinese boy with bilateral blindness.Neurofibromatosis type 1(NF1;OMIM#162200),an autosomal dominant disease,is caused by mutations in the NF1gene.The incidence of this disease is around 1 in 3500展开更多
Aminolevulinic acid-based photodynamic therapy(ALA-PDT)is a safe and effective physical therapy for acne vulgaris that is widely used in clinical practice.To further standardize the clinical application of ALA-PDT in ...Aminolevulinic acid-based photodynamic therapy(ALA-PDT)is a safe and effective physical therapy for acne vulgaris that is widely used in clinical practice.To further standardize the clinical application of ALA-PDT in the treatment of acne,we created this updated consensus based on the 2011 version of the consensus on ALA-PDT for the treatment of acne vulgaris.In this document,we summarize the mechanisms of action of ALA-PDT and provide practical standards for patient selection,treatment parameters,administration procedures,and management of adverse reactions.Our aim was to provide guidance and treatment regimens for using ALA-PDT for acne vulgaris in clinical practice.展开更多
Background： Atopic dermatitis （AD） is an inflammatory skin disease characterized by chronic recurrent dermatitis with profound itching. Most patients have personal and/or family history of atopic diseases. Several ...Background： Atopic dermatitis （AD） is an inflammatory skin disease characterized by chronic recurrent dermatitis with profound itching. Most patients have personal and/or family history of atopic diseases. Several criteria have been proposed for the diagnosis of AD. Although the clinical features of childhood AD have been widely studied, there has been less large-scale study on adult/adolescent AD. The aim of this study was to investigate the clinical features of adult/adolescent patients with chronic symmetrical eczemaJAD and to propose Chinese diagnostic criteria for adult/adolescent AD. Methods： A hospital-based study was performed. Forty-two dermatological centers participated in this study. Adult and adolescent patients （12 years and over） with chronic symmetrical eczema or AD were included in this study. Questionnaires were completed by both patients and-investigators. The valid questionnaires were analyzed using EpiData 3.1 and SPSS 17.0 software. Results： A total of 2662 valid questionnaires were collected （1369 male and 1293 female）. Of all 2662 patients, 2062 （77.5%） patients had the disease after 12 years old, while only 600 （22.5%） patients had the disease before 12 years old, suggesting late-onset eczema/AD is common. Two thousand one hundred and thirty-nine （80.4%） patients had the disease for more than 6 months. One thousand one hundred and forty-four （43.0%） patients had a personal and/or family history of atopic diseases. One thousand five hundred and forty-eight （58.2%） patients had an elevated total serum IgE and/or eosinophilia and/or positive allergen-specific IgE. Based on these clinical and laboratory features, we proposed Chinese criteria for adult/adolescent AD. Of all 2662 patients, 60.3% were satisfied with our criteria, while only 48.2% satisfied with Hanifin Rajka criteria and 32.7% satisfied with Williams criteria, suggesting a good sensitivity of our criteria in adult/adolescent AD patients. Conclusion： Late-onset of eczema or AD is common. The clinical manifestations of AD are heterogeneous. We have proposed Chinese diagnostic criteria for adolescent and adult AD, which are simple and sensitive for diagnosis of adult/adolescent AD.展开更多
Atopic dermatitis(AD)is a common disease clinically characterized by chronic recurrent eczematous lesions,dry skin,and pruritus.AD can negatively impact patients’quality of life.The prevalence of AD in China has been...Atopic dermatitis(AD)is a common disease clinically characterized by chronic recurrent eczematous lesions,dry skin,and pruritus.AD can negatively impact patients’quality of life.The prevalence of AD in China has been increasing during the past few decades.Based on the most recent advances in the treatment of AD,we updated the 2014 version of the Guidelines for Diagnosis and Treatment of Atopic Dermatitis in China regarding the definition,epidemiology,pathogenesis,clinical classification,diagnosis,prevention,and treatment of AD.展开更多
Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their ski...Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected.DNA isolation,RNA isolation and complementary DNA synthesis,and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causativeRECQL4 gene.Results:We analyzed two patients with mild phenotypes.One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T(p.R758X),both resulting in premature termination codons.The other patient carried two novel alterations,c.2886-1G>A and c.2752G>T(p.E918X).Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenicRECQL4 variants in two patients with RTS,thus expanding the mutational spectrum of RTS-II.We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.展开更多
文摘Dear editor,I am Dr.Jie Peng,from the Department of Ophthalmology,Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai,China.I write to present a case report of a novel in-frame deletion mutation c.17779del TAC of neurofibromatosis type 1 in a Chinese boy with bilateral blindness.Neurofibromatosis type 1(NF1;OMIM#162200),an autosomal dominant disease,is caused by mutations in the NF1gene.The incidence of this disease is around 1 in 3500
文摘Aminolevulinic acid-based photodynamic therapy(ALA-PDT)is a safe and effective physical therapy for acne vulgaris that is widely used in clinical practice.To further standardize the clinical application of ALA-PDT in the treatment of acne,we created this updated consensus based on the 2011 version of the consensus on ALA-PDT for the treatment of acne vulgaris.In this document,we summarize the mechanisms of action of ALA-PDT and provide practical standards for patient selection,treatment parameters,administration procedures,and management of adverse reactions.Our aim was to provide guidance and treatment regimens for using ALA-PDT for acne vulgaris in clinical practice.
文摘Background： Atopic dermatitis （AD） is an inflammatory skin disease characterized by chronic recurrent dermatitis with profound itching. Most patients have personal and/or family history of atopic diseases. Several criteria have been proposed for the diagnosis of AD. Although the clinical features of childhood AD have been widely studied, there has been less large-scale study on adult/adolescent AD. The aim of this study was to investigate the clinical features of adult/adolescent patients with chronic symmetrical eczemaJAD and to propose Chinese diagnostic criteria for adult/adolescent AD. Methods： A hospital-based study was performed. Forty-two dermatological centers participated in this study. Adult and adolescent patients （12 years and over） with chronic symmetrical eczema or AD were included in this study. Questionnaires were completed by both patients and-investigators. The valid questionnaires were analyzed using EpiData 3.1 and SPSS 17.0 software. Results： A total of 2662 valid questionnaires were collected （1369 male and 1293 female）. Of all 2662 patients, 2062 （77.5%） patients had the disease after 12 years old, while only 600 （22.5%） patients had the disease before 12 years old, suggesting late-onset eczema/AD is common. Two thousand one hundred and thirty-nine （80.4%） patients had the disease for more than 6 months. One thousand one hundred and forty-four （43.0%） patients had a personal and/or family history of atopic diseases. One thousand five hundred and forty-eight （58.2%） patients had an elevated total serum IgE and/or eosinophilia and/or positive allergen-specific IgE. Based on these clinical and laboratory features, we proposed Chinese criteria for adult/adolescent AD. Of all 2662 patients, 60.3% were satisfied with our criteria, while only 48.2% satisfied with Hanifin Rajka criteria and 32.7% satisfied with Williams criteria, suggesting a good sensitivity of our criteria in adult/adolescent AD patients. Conclusion： Late-onset of eczema or AD is common. The clinical manifestations of AD are heterogeneous. We have proposed Chinese diagnostic criteria for adolescent and adult AD, which are simple and sensitive for diagnosis of adult/adolescent AD.
文摘Atopic dermatitis(AD)is a common disease clinically characterized by chronic recurrent eczematous lesions,dry skin,and pruritus.AD can negatively impact patients’quality of life.The prevalence of AD in China has been increasing during the past few decades.Based on the most recent advances in the treatment of AD,we updated the 2014 version of the Guidelines for Diagnosis and Treatment of Atopic Dermatitis in China regarding the definition,epidemiology,pathogenesis,clinical classification,diagnosis,prevention,and treatment of AD.
基金National Nature Science Foundation of China(Nos.82073422 and 81874239)Shanghai Health System Excellent Academic Leader Training Project(No.2018BR22)Pujiang Talents Program(No.18PJ1407300)。
文摘Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syndrome type II(RTS-II).Two Chinese girls with mild-phenotype RTS-II mainly restricted to their skin are herein described.Methods:Blood specimens from two families with mild-phenotype RTS-II were collected.DNA isolation,RNA isolation and complementary DNA synthesis,and next-generation sequencing using a multi-gene panel were applied to verify the underlying pathogenic variants in the causativeRECQL4 gene.Results:We analyzed two patients with mild phenotypes.One patient had an unreported paternal c.2885+1G>A alteration in intervening sequence 16 and the previously reported maternal exon 14 c.2272C>T(p.R758X),both resulting in premature termination codons.The other patient carried two novel alterations,c.2886-1G>A and c.2752G>T(p.E918X).Complementary DNA sequencing showed that different splice-site mutations within the same intron could lead to completely different splicing modes.Conclusion:We identified three novel pathogenicRECQL4 variants in two patients with RTS,thus expanding the mutational spectrum of RTS-II.We also explored their pathogenic effect by transcripts analysis to address genotype-phenotype correlations.
