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Objective To report a pedigree with tyrosinemia type Ⅱ,and to analyze its causative mutations.Methods Clinical data were obtained from a 10-year-old male proband with tyrosinemia type Ⅱ,and analyzed retrospectively.Blood and urine samples were collected from 19 persons in 3 generations of the pedigree,and the amino acid level was detected in these samples.Genomic DNA was extracted from all of the 19 family members,and mutations in the tyrosine aminotransferase (TAT) gene were detected.Results The patient developed photophobia at 2 months after birth,and the symptom was gradually aggravated after that.At the age of 6 years,ocular pain and photophobia occurred.At the age of 8 years,linear keratotic plaques occurred on his fingertips and soles of both feet,with obvious tenderness.Ophthalmic examination showed no obvious abnormalities in corneal staining or ocular fundus.Skin examination showed multiple linear keratotic plaques on the fingers and soles of both feet.The serum tyrosine level was 825.64 μmol/L,and the level of p-hydroxyphenyllactic acid in urine was 161.4 μmol/L.Genetic testing showed 2 novel mutations,including c.236G ＞ A at position 236 in exon 2 of the TAT gene causing the substitution of glycine by glutamic acid (p.Gly79Glu),and c.1141G ＞ T at position 1141 in exon 10 of the TAT gene leading to the formation of a premature termination codon instead of glutamic acid (p.Glu381*).The proband was the only patient in the family.Some members in the patrilineal family carried the mutation c.1141G ＞ T (p.Glu381*),and some in the maternal family carried the mutation c.236G ＞ A (p.Gly79Glu).Conclusion This is the first case of tyrosinemia type Ⅱ reported in the domestic population,and 2 novel heterozygous mutations were identified in the TAT gene,which may lead to the occurrence of tyrosinemia type Ⅱ in the patient.
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Objective To determine the potential impact of superantigens produced by skin-colonizing Staphyiococcus aureus in patients with atopic dermatitis and eczema. Methods Of 117 patients with atopic dermatitis and 199 with eczema, 140 Staphyiococcus aureus strains were isolated from the skin specimens. Superantigens were detected with reverse passive latex agglutination. Results Among 140 Staphyiococcus aureus strains, 60 (42.9%) produced superantigens, among which 43 produced one kind of superantigens only and 17 produced at least two kinds. Of strains isolated from atopic dermatitis, 51.5% produced superantigens and no significant difference was seen in superantigen production between lesional and non-lesional strains in atopic dermatitis. Of strains isolated from eczema patients, 34.7% (all were lesional strains) produced superantigens. The positive rates of total superantigens, lesional superantigens and toxic shock syndrome toxin-1 production were all higher in the strains from atopic dermatitis than in those from eczema. Conclusions Superantigen production by skin-colonizing Staphyiococcus aureus probably plays a more important role in atopic dermatitis than that in eczema. However, further studies are necessary to validate its importance.
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Objective To study the bacteriological characteristics and the pathogenesis of Staphylococcus aureus (S. aureus) on eczema and atopic dermatitis (AD). Methods A multi-center randomized, double blind bacteriological study on the lesions and non-lesional skin of patients with eczema (207) and AD (119) were carried out. The antibiotic sensitivity and the bacteriophage typing were performed on all the S. aureus isolated from the patients. Results There were statistical differences in the positive rate of the culture, the ratio and the colonization of S. aureus between the lesion and the non-lesional skin in eczema (P
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Objective To investigate the colonization features of Staphylococcus aureus (S. aureus) in the skin lesions of eczema and atopic dermatitis (AD), and to evaluate the therapeutic effect of combination topical treatment with mupirocin and hydrocortisone butyrate. Methods A multicentre, double-blind randomi-zed trial was conducted. The SCORAD was evaluated on day 1, 7, 14 and 28. Swabs for bacterial isolation were taken from the lesional skin and non-lesional skin. A combination topical therapy with mupirocin ointment and hydrocortisone butyrate ointment was used in treatment group, with vehicle ointment and hydrocortisone butyrate ointment as a control. Results Three hundred and twenty seven patients were enrolled in the study, including 208 patients with eczema and 119 patients with atopic dermatitis. Bacteria were isolated from 70.19% of lesional skin and 32.69% of non-lesional skin of patients with eczema, in which S. aureus accounted for 47.26% and 27.94% respectively. Bacteria were isolated from 74.79% of the lesional skin and 34.45% of non-lesional skin of patients with atopic dermatitis, in which S. aureus accounted and 79.78% or 80.49% respectively. The amount of S. aureus colonized was markedly higher in the lesional skin than that in non-lesional skin, either in eczema patients or in atopic dermatitis (P 0.05). Conclusions The bacterial colonization, especially S. aureus, is more frequently dectected in the lesional skin of eczema patients and AD patients than that in the non-lesional skin, which may be related in the pathogenesis of eczema and AD. And, early application of combination therapy with topical antibiotics and corticosteroids is beneficial to the patients.
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Objective To evaluate the cumulative irritative effect of topical retinoic acid preparations on normal skin.Methods A randomlized,doubled blind,placebo-controlled clinical trial was carried out with7groups for6tested preparations.All subjects were patch tested with each preparation for24hours on Monday to Thursday,and for72hours on Friday.The patch tests were performed for3consecutive weeks.Results The minimal cumulative irritative effects were found in Group G treated with0.1%adapalene gel,with a cumulative irritative index of0.09?0.11in20days.The cumulative irritative index was significantly lower in Group G than that in Group B treated with0.1%retinoic acid(Diweishuang誖)(0.59?0.24),or in0.025%retinoic acid(Diweishuang誖)(0.41?0.22),or in0.05%retinoic acid(VITAMIN誖Cream)(0.25?0.22).Conclusion Adapalene,the third generation of retinoic acid,is characterized by lower irritative ef-fects in comparison to the first generation of topical retinoic acid agents.
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To study the etiology and pathogenesis of seasonal contact dermatitis (SG),some skin tests including pollen allergen patch test were performed in 43 cases of SG.Sixty-two patients with al- lergic contact dermatitis(NSG) and 50 healthy individual(HG) were used as control.The results showed that the level and positivity rate of total serum IgE in SG,and the positivity rate of specific IgE,pollen allergen prick test and patch test in SG were higher than those in NSG and HG.The speeific IgE,pollen allergen prick test and pollen allergen patch test were significantly correlated,and showed high consis- tency.These results indieate that the pathogenesis of seasonal contact dermatitis he obviously associated with pollen allergen-induced IgE-mediated late-phase reaction.
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In order to study on the properconcentrations for patch test(PT),and the availability of PT w ith the suspected cosm etic products used by the patients,PT ofvarious cosm etic products w as per- form ed on 35 healthy subjects and 38 patients w ith non-contactderm atitis and non-eczem a by using dif- ferent concentrations of cosm etic products and their vehicles in cosm etic products.In 62 patients w ith cosm etic derm atitis PT w as done using their ow n suspected causative cosm etic products.The results show ed thatm ost products could be tested “w ith originalproducts”,w ithout dilution,such as skin care products(cream ),lipsticks,hair care products(hair cream ,hair oil,m ousse),others had to be diluted, such as hair dyes,hotoiland soap,to 2% solution,sham poos to 5% solution,perm anent-w ave solutions and perfum es to 5% or 10% in distilled w ater,nailvarnish to 5% or 10% in acetone.The totalpositive rate of PT by using suspected cosm etics w as 95.16% .Our results indicate that PT concentrations and vehicles vary w ith different products in suspected cosm etics,PT of the suspected causative cosm etic products is an im portant m eans for the diagnosis of cosm etic derm atitis.Our study provides necessary data for the further study ofChinese standard cosm etic screening series allergens for PT.
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0.05).Conclusions The higher level of SEB-specific IgM and IgE in AD and eczema indi cates the colonization of Staphylococcus aureus,which participates in the exace rbation of allergic inflammation,is involved in the pathogenesis of AD and ecz ema.
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Objectives To study the role of interleukin-4 (IL-4) and interferon-gamma (IFN-?) in the pathogenesis of atopic dermatitis and eczema,and the changes of serum levels of IL-4 and INF-? with topical treatment of co rticosteroid plus antibiotic cream or corticosteroid cream alone.Methods Seru m levels of IL-4 and IFN-? were detected by enzyme-linked immunosorbent assa y(ELISA).Results Serum levels of IL-4 and INF-? were significantly higher in the patients with atopic dermatitis and eczema than those in the normal control s,respectively(both P
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Objective To assess the antimicrobial actitivity of econazole nitrate in comparison with other six antibacterial drugs. Methods The minimal inhibitory concentrations (MICs) of econazole nitrate (Eco), neomycin (Neo), erythromycin (E), penicillin (P), cefotaxime sodium (Cef), ciprofloxacin (Cip) and amikacin (An) to 222 strains of Staphylococcus spp isolated from the lesions of patients with eczema and atopic dermatitis were determined by using the broth dilution method. Results MIC50 values of Eco were similar to Neo, Cip, An and Cef, and lower than those of P and E on methicillin-sensitive Staphylococcus aureus (MSSA); significantly lower than those of the other six antibacterial drugs on methicillin-resistant Staphylococcus aureus (MRSA); similar to An, Cip and P, and lower than those of Neo, Cef and E on methicillin-sensitive and coagulase-negative Staphylococcus (MSCNS); and similar to An, Cip P or Neo, and lower than Cef and E on methicillin-resistant and coagulase negative Staphylococus (MRCNS). Based on the NCCLS standards, the resistance rates of Cip, P and E were very high to either Staphylococcus areus or coagulase-negative Staphylococcus (CNS). The resistance rates of An and Cef of were lower to MSSA, but higher than 50% to MRSA. MIC90 value of Eco was similar to its MIC50, and lower than the MIC value reported in the literature. The MIC90 value of neomycin was muich higher than the MIC50 value of econazole. Conclusion Econazole nitrate has antibacterial activity to both Staphylococcus areus and CNS. MIC90 value of Eco is similar to its MIC50, and no resistance to Eco was found.