A5027984328- Dermatology and Skin Diseases
- RNA regulation and disease
- Allergic Rhinitis and Sensitization
- Skin and Cellular Biology Research
- Asthma and respiratory diseases
- Autoimmune Bullous Skin Diseases
- Food Allergy and Anaphylaxis Research
- RNA Research and Splicing
- Hair Growth and Disorders
- Dermatological and Skeletal Disorders
- DNA Repair Mechanisms
- Urticaria and Related Conditions
- Immunodeficiency and Autoimmune Disorders
- Protein Tyrosine Phosphatases
- Nail Diseases and Treatments
- Contact Dermatitis and Allergies
- Genetic and rare skin diseases.
- Porphyrin Metabolism and Disorders
- Cytomegalovirus and herpesvirus research
- Ion Channels and Receptors
- Psoriasis: Treatment and Pathogenesis
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- RNA and protein synthesis mechanisms
- interferon and immune responses
- Viral Infections and Immunology Research
XinHua Hospital
2013-2024
Shanghai Jiao Tong University
2012-2024
Capital Normal University
2019
Abstract Prevalence of atopic dermatitis (AD) is increasing worldwide. Up to date, there has been no face-to-face nation-wide study in China. We aim explore the prevalence clinical diagnosed AD children aged 1–7 ys Twelve metropolises were chosen from different areas In each region, we selected 4–10 kindergartens and 2–5 vaccination clinics randomly. A complete history-taking skin examination performed by dermatologists. The definite diagnosis severity determined two or three All criteria...
Abstract Neurofibromatosis type 1 ( NF1 ) is an autosomal dominant hereditary disease that primarily characterized by multiple café au-lait spots (CALs) and skin neurofibromas, which are attributed to defects in the tumor suppressor . Because of age-dependent presentation NF1, it often difficult make early clinical diagnosis. Moreover, identifying genetic alterations patients represents a complex challenge. Currently, there no effective detective methods comprehensive mutation data available...
Atopic dermatitis (AD) is the most common skin disorder in infancy. However, diagnosis and definite significance of infantile AD remains a debated issue.To analyse phenotypes infancy, to establish diagnostic criteria estimate prevalence this condition China.This multicentric study, which 12 locations were chosen from different metropolitan areas China. Following careful complete history-taking examination, was made severity based on SCORAD index determined by local experienced...
Abstract Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks—mutilating palmoplanter and periorificial keratoderma. However, there’s growing body of literature reporting on the phenotypic diversity OS, including absence aforementioned hallmarks presence some unusual clinical features. Here we presented an atypical familial case OS that could be confused with Huriez due to scleodactyly-like appearance tapered fingers in proband....
Abstract Since late 2012, coxsackievirus A6 (CVA6) has gradually become the predominant pathogen responsible for hand-foot-mouth disease (HFMD) in several provinces of China. A total 626 patients diagnosed with HFMD Shanghai, China from January 2012 to September 2013 were enrolled this study. Of these, 292 CVA6 infected cases subjected clinical analyses. Whole-genome sequencing, recombination and phylogenetic analyses also performed. recombinant monophyletic lineage was found during an...
Abstract Infantile bullous pemphigoid (BP) is a rare autoantibody‐mediated skin disorder. We report the effective treatment of 6‐month‐old infant with BP using baricitinib, Janus kinase (JAK) inhibitor, after failure steroids and intravenous immunoglobulin. The patient achieved full remission discontinued all medications without any relapses. To our knowledge, this first case baricitinib used in an BP.
Recently, we have reported filaggrin mutations (FLG) of atopic dermatitis in southern China. However, there been few detailed reports FLG patients with AD northern China by now.The present aim was to establish the mutation spectrum gene China.A total 339 cases met Hanifin and Rajka diagnostic criteria were recruited. A comprehensive sequencing entire coding region these conducted. All detected null screened a cohort 301 normal controls.Seven novel (478insA, Q1070X, 4026delT, Q1712X, Q2397X,...
Abstract Background In previous epidemiological study, the prevalence of atopic dermatitis ( AD ) was 12.94% among children aged 1–7 years by clinical diagnosis, whereas that 4.76% and 3.51% using U.K., Hanifin Rajka diagnostic criteria. Objective We aimed to propose new criteria for evaluate its efficiency in different populations. Methods screened features analysed their correlation with data from a study. A set China proposed validated 1031 outpatient clinics 538 birth cohort survey....
Ichthyosis vulgaris (IV; OMIM 146700) is a very common inherited skin disorder. Loss-of-function mutations in the filaggrin gene (FLG) have been identified as cause of IV. In previous study, we found that percentage FLG null was lower IV associated with atopic dermatitis (AD) than not AD (isolated IV). We speculated some clinical manifestations patients are induced by mutations.In order to clarify this issue, collected 21 pedigrees, 33 sporadic isolated and 116 AD-associated analyse mutation...
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects the well-known LEOPARD syndrome, respectively. Both conditions presented lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses three Chinese boys clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 PTPN11 were candidate for mutational screening. Sanger sequencing performed identify mutations, whereas bioinformatic analysis used...
Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation desmoplakin (DSP) have been demonstrated to be associated with severe dermatitis, multiple allergies metabolic wasting (SAM) syndrome (Mendelian Inheritance Man no. 615508). We aim identify molecular basis for a Chinese pedigree of SAM syndrome. A was subjected detection DSG1 gene. Sequence analysis quantitative reverse transcriptase polymerase chain reaction expression using cDNA derived from epidermis...
Primary hypertrophic osteoarthropathy (PHO (MIM 167100)) is a rare genetic disease characterized by pachyderma, periostosis and digital clubbing. Mutations in the 15-hydroxy-prostaglandin dehydrogenase (HPGD) gene solute carrier organic anion transporter family member 2A1 (SLCO2A1) have been demonstrated to be pathogenic causes. We aimed identify cause of 2 unrelated patients with PHO. Urinary levels prostaglandin E2 E metabolite were measured Proband 1 his sister competitive ELISAs....
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and greatly increased incidence of skin cancers. Genetic mutation detection genotype-phenotype analysis XP are rarely reported in the Chinese Han population.To investigate mutational spectrum population, discover any correlation and, consequently, propose simple effective tool for molecular diagnosis XP.This study was carried out on 12 unrelated...
Neu-Laxova syndrome (NLS) is a rare hereditary disorder featuring intrauterine growth retardation, remarkable oedema with skin restriction, limb contracture, ichthyosis, and craniofacial anomaly. NLS shares multiple overlapping characteristics several other inheritable refractory diseases: for example, harlequin foetus restrictive dermopathy. To date, many patients have been described, although the number of cases clear genetic aetiology remains limited. characterize clinical features in two...
Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of keratoderma (PPK), which caused by mutations in the SERPINB7 gene. NPPK has only been reported Japanese and Chinese populations. The present study was conducted on 12 unrelated patients who were clinically predicted to suffer from NPPK. Mutation screening performed direct sequencing entire coding regions SERPINB7, SLURP1, AQP5, CSTA, KRT1 KRT9 genes. Direct revealed five homozygous founder (c.796C>T) four compound...
Background: Atopic dermatitis (AD) is one of the most common inflammatory cutaneous diseases. Thymic stromal lymphopoietin (TSLP) has been demonstrated to be an important immunologic factor in pathogenesis AD. The production TSLP can induced by a high level intracellular calcium concentration and activation receptor-interacting protein 2/caspase-1/NF-κB pathway. Andrographolide (ANDRO), natural bicyclic diterpenoid lactone, found exert anti-inflammatory effects gastrointestinal disorders...