Paraneoplastic pemphigus(PNP) is a clinically, histologically, and immunopathologically distinct autoimmune bullous disease characterized by severe painful mucosal erosions and polymorphous skin lesions. Histopathology shows acantholysis with lichenoid dermatitis or keratinocyte necrosis, and there are autoantibodies to various epidermal proteins with underlying neoplasia. We report two cases of paraneoplastic pemphigus in China firstly. The clinical, histologic, and immunopathologic findings of both cases strongly suggest the diagnosis of paraneoplastic pemphigus associated with Castleman′ s tumor.

Objective To perform fetal karyotyping by percutaneous umbilical blood sampling guided by color Doppler ultrasonography in fetuses with congenital cardiac anomalies. Methods Fetal blood samples obtained by color Doppler ultrasound-guided cordocentesis in 56 fetuses with cardiac abnormalities detected by fetal echocardiography were taken for karyotyping.Fetuses were monitored post operation. Results The procedures were successfully performed in all cases and no procedure-related complications occurred.Six cases with abnormal karyotypes, 1 trisomy 21,2 trisomy 18,1 trisomy 13,1 trisomy AO and 1 cases 47XYY were identified and pre-operation ultrasonography detected multiple system anomalies besides cardiac anomalies in them. Conclusions Color Doppler ultrasonography facilitated percutaneous umbilical blood sampling by clear umbilical vein imaging and shortening the operation time.Abnormal karyotypes in fetuses with cardiac anomalies seemed to be related with multiple system anomalies.

Objective To determine XPAC gene mutation in a Chinese pedigree with xeroderma pigmentosum group A.Methods All exons of XPAC gene were analyzed by PCR-DNA sequencing in the pedigree.The mutations were confirmed by restriction fragment length polymorphism(RFLP).Results By PCR-DNA sequencing,a nonsense mutation of C631T was identified which caused R211X substitution in exon5of XPAC gene.The mutated gene encoded a defective XPA protein truncated by63amino acids in C-terminus.The parents were all heterozygotes.The results were confirmed by RFLP.Conclusions A nonsense mutation is found in XPAC gene of a pedigree of xeroderma pigmentosum group A.This mutation may impair XPA protein function of DNA repair,and as a consequence,cause skin aging and carcinogenesis.

A 57-year-old man was admitted to the hospital for a 7-year progressively spreading plaques involving the entire body surface, and multiple irregularly sized red nodules and infiltrated patches on the face, trunk and limbs. Histopathological examination showed pleomorphic tumor cells diffusely dis-persed throughout the dennis, giving an appearance of low proliferation. Some cells with cytoplasmic pro-cesses appeared multiangular in shape, lmmunohistochemically, tumor cells were negative for CDla or S-100, but positive for CD45, FXIIIa, CDl4, MHC- Ⅱ, CD68 and lysozyme with extracellular interstitial expression. Ultrastructurally, the cells exhibited cytoplasmic processes and irregularly sized nuclei; no Birbeck granules were observed. Vesicules of low electron-density were seen diffusely in cytoplasm and extracellular matrix. The case is herein diagnosed as cutaneous non-Langerhans cell histiocytosis, which presents with a chronically invasive clinical course. These cells may develop from immature dermal dendritic cells.

Objective To assess the clinical efficacy and safety of benzoyl peroxide gel(BPG)with different concentrations in the treatment of acne vulgaris,and to compare the quality between the domestic products with imported products.Methods The study was an open-controlled clinical trial.The patients were divided into4groups:imported2.5%,5%,10%gel and domestic5%gel.All preparations were ap-plied twice daily for6weeks.Study visits took place at baseline and week2,4and6.Results Different concentrations of benzoyl peroxide gel were effective for inflammatory lesions.The longer the course of treat-ment and the higher the drug concentration were,the better global clinical efficacy was,and the optimum concentration was5%or10%.In addition,the higher the drug concentration was,the higher adverse reac-tion rate was.Transient and mild local skin irritation occurred but was well tolerated by the patients.The imported benzoyl peroxide5%gel was as effective as domestic benzoyl peroxide5%gel,but the adverse re-action rate was less than the latter.Conclusion Different concentrations of benzoyl peroxide gel are all ef-fective and safe in the treatment of acne vulgaris,with the optimum concertration is5%or10%.

Objective To identify the mutation of DKC1 gene and its inheritance in a pedigree with dyskeratosis congenita (DKC). Methods The mutation was detected by polymerase chain reaction(PCR)and DNA sequencing, and restriction endonuclease digestion was performed to confirm the mutation. Results A transition mutation of C to T (1058C-T) in DKC1 gene was found in the proband and his brother. This mutation results in an amino acid change from alanine to valine (A353V) in dyskerin protein. The proband′s mother and sister were carriers of this mutation gene with no phenotype of DKC. Conclusion This pedigree is an X-linked form of DKC with 1058C-T mutation in DKC1 gene.

Objectives To report a generalized atrophic benign epidermolysis bullosa family,identify the deficient protein and related pathogenic gene mutation. Methods The diagnosis was confirmed based on clinical manifestations and necessary examinations. Electron microscopy and immunofluorescent staining were used to detect the deficient protein. The pathogenic gene mutation was identified by PCR amplification of ge-nomic DNA with primers targeting the flanking introns, followed by direct automated sequencing. Results In the family, the affected individuals were homozygous for a novel 4-bp deletion in COL17A1, 3897delATCT, which resulted in a downstream premature termination codon. Conclusions 3897delATCT of COL17A1 is the pathogenic gene mutation in the patients and probably results in nonsense-mediated mRNA decay and abrogation of type XⅦ collagen synthesis, as documented in the literature.

Objective To evaluate the relationship between desmosome-related proteins and epidermal tumors. Methods Using anti-desmoglein 1 and 2 monoclonal antibodies, expression of desmoglein 1 and 2 was examined by an immunohistochem ical staining method in various epidermal tumors such as squamous cell carcinoma (SCC), actinic keratosis(AK), keratoacanthoma(KA) and seborrhoeic keratosis(SK). Results Desmoglein 1 and 2 were strongly expressed in intercellular space of wh ole epidermis in normal human skin. Expression of desmoglein 1 and 2 was markedl y reduced or absent in SCC cells. Compared with normal epidermal cells, expressi on of desmoglein 1 and 2 was equal to or reduced,with complete absence of stain ing in dysplastic areas in AK cells. Extensive pericellur staining of desmoglein 1 and 2 was found in KA and SK cells, similar to that observed in normal epider mis. Conclusion Expression of desmoglein 1 and 2 is markedly reduced or absent i n human malignant epidermal cancers, reduction of these molecules may contribute to invasiveness and metastasis of epidermal carcinomas.

Objective To detect the activity of transglutaminase1(TGM1)and gene mutation in a family with lamellar ichthyosis.Methods Immunohistochemistry technique was used to detect the activity of transglutaminase1.Complete encoding sequences of TGM1gene were analyzed in this family by using PCR-DNA sequencing.Results No activity of transglutaminase1was detected in the proband's skin.A nonsense mutation of C604T located in exon4of TGM1gene was identified by PCR-DNA sequencing,which caused a premature termination of Q202X and a defective polypeptide truncated by615amino acids in C-terminus.A heterozygous C604T mutation was carried by both of the proband' s parents.Conclusions The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity,which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1gene.

OBJECTIVES: This study is aimed at developing a set of data groups (DGs) to be employed as reusable building blocks for the construction of the eight most common clinical documents used in China's general hospitals in order to achieve their structural and semantic standardization. METHODS: The Diagnostics knowledge framework, the related approaches taken from the Health Level Seven (HL7), the Integrating the Healthcare Enterprise (IHE), and the Healthcare Information Technology Standards Panel (HITSP) and 1,487 original clinical records were considered together to form the DG architecture and data sets. The internal structure, content, and semantics of each DG were then defined by mapping each DG data set to a corresponding Clinical Document Architecture data element and matching each DG data set to the metadata in the Chinese National Health Data Dictionary. By using the DGs as reusable building blocks, standardized structures and semantics regarding the clinical documents for semantic interoperability were able to be constructed. RESULTS: Altogether, 5 header DGs, 48 section DGs, and 17 entry DGs were developed. Several issues regarding the DGs, including their internal structure, identifiers, data set names, definitions, length and format, data types, and value sets, were further defined. Standardized structures and semantics regarding the eight clinical documents were structured by the DGs. CONCLUSIONS: This approach of constructing clinical document standards using DGs is a feasible standard-driven solution useful in preparing documents possessing semantic interoperability among the disparate information systems in China. These standards need to be validated and refined through further study.
Asian Continental Ancestry Group ; China ; Delivery of Health Care ; Electronic Health Records ; Health Level Seven ; Hospitals, General ; Humans ; Information Systems ; Semantics