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Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the NCSTN genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the NCSTN gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the NCSTN gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that NCSTN is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the NCSTN gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.
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Objective To investigate ultrahistopathological features of symmetrical acrokeratoderma.Methods Biopsy specimens were obtained from skin lesions and perilesional normalappearing skin of 6 patients with symmetrical acrokeratoderma,as well as from normal skin of 3 healthy volunteers.Then,these skin specimens were subjected to transmission electron microscopy (TEM).Results TEM showed obviously thickened stratum corneum,irregular morphology of keratinocytes and discontinuous cornified envelope.Aggregation and abnormal arrangement of keratin filaments occurred in all epidermal layers.Many vacuoles of different sizes were observed in the transitional zone between the stratum corneum and stratum granulosum.Hypogranulosis,abnormal shape and different sizes of keratohyalin granules,and reduction of membrane-coating granules were found in the stratum granulosum.Increased melanocytes with a large number of stage Ⅳ melanosomes in the cytoplasm were observed in the basal layers.Moreover,there was infiltration of a few lymphocytes in the superficial dermis.Perilesional normal-appearing skin tissues showed similar but milder ultrastructural changes.Conclusion Abnormal metabolism of keratins,epidermal differentiation complex proteins and lipids may exist in skin lesions of symmetrical acrokeratoderma,which may contribute to epidermal thickening and impairment of skin barrier function.
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Objective To investigate the role of T helper 17 cells/interleukin?17(Th17/IL?17) axis in the occurrence of vaginal candidiasis in mice. Methods A total of 120 female BALB/c mice were randomly and equally divided into Ei, En, Ci and Cn groups. Three days before vaginal inoculation, estrogen (Ei and En)groups and control(Ci and Cn)groups received subcutaneous injection of 0.05 mg estradiol and 0.1 ml sterilized soybean oil at the hind legs, respectively, and then the hormone treatment continued every other day until the end of experiment. Infected(Ei and Ci)groups and noninfected(En and Cn) groups were inoculated intravaginally with 10μl(5 × 104 conidia)of Candida albicans suspension and 10μl of sterilized phosphate?buffered saline, respectively. Ten mice were randomly selected from each group and sacrificed on day 3, 7 and 14 after inoculation. The intact vagina tissues were resected and then frozen in liquid nitrogen or embedded in paraffin. Real?time fluorescence?based quantitative PCR(qRT?PCR)and immunofluorescent staining were performed to measure mRNA expression and immunofluorescence intensities of retinoic acid?related orphan receptorγt(RORγt), RORα and IL?17, respectively. Western blot analysis was conducted to determine protein expression of RORγt and IL?17. Results Laser scanning confocal microscopy showed that RORγt, RORα and IL?17 immunofluorescence was mainly located at inflammatory cells of the lamina propria and blood vessels in En and Cn groups, at mucosal epithelium, adherent hyphae, and inflammatory cells of the lamina propria and blood vessels in Ci group, and at mucosal epithelium, vaginal canal and endocytosed hyphae, and inflammatory cells of the lamina propria and blood vessels in Ei group. qRT?PCR and immunofluorescent staining uncovered that mRNA expression and immunofluorescence intensities of RORγt, RORα and IL?17 were significantly higher in En, Ci and Ei groups than in Cn group at the same time points(all P0.05). Moreover, RORγt and IL?17 protein expression in Ci and Ei groups was obviously up?regulated on day 7 after inoculation (RORγt: F = 13.137, P < 0.001; IL?17: F = 11.182, P < 0.001), but was not increased further on day 14. Conclusion Vaginal candida infection can up?regulate the expression of RORγt, RORα and IL?17, suggesting that Th17/IL?17 axis may be involved in the occurrence of vaginal candidiasis in BALB/c mice.
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Objective To investigate the expressions of fatty acid-binding protein 5 (FABP5)and dihydroli-poamide dehydrogenase(DLD)in skin lesions of symmetrical acrokeratoderma(SAK), and to explore their significance. Methods Biopsy specimens were obtained from skin lesions on the wrists and perilesional skin of 9 patients with SAK, and from normal skin in the wrists of 9 healthy volunteers (control group). Reverse transcription PCR (RT-PCR)and immunohistochemical staining were performed to measure the expressions of FABP5 and DLD in these specimens. Results RT-PCR showed no significant differences in the mRNA expressions of FABP5 or DLD between lesional, perilesional and normal control skin specimens(both P > 0.05). Immunohistochemically, there was a significant increase in the extent and intensity of staining for FABP5 in SAK lesions. Concretely speaking, FABP5 was strongly expressed in the stratum corneum, granular and spinous layers in SAK lesions, but weakly expressed in the stratum corneum, granular and spinous layers in perilesional skin, and only in spinous and basal layers in normal control skin. The expression of DLD decreased in SAK lesions, and was observed only in the stratum corneum and spinous layer in a few cases of SAK. However, the full-thickness epidermis stained positive for DLD in perilesional skin, with the nuclei and cytoplasm both stained deep brown. Conclusion The overexpression of FABP5 in SAK lesions may participate in dysdifferentiation of keratinocytes, while the down-regulation of DLD expression suggests an imbalance in energy metabolism.
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Objective To investigate the distribution characteristics of pathogens isolated fromcerebrospinal fluid of neurosurgical patients with intracranial infection following open craniotomy and thetherapeutic effect influenced by these pathogens,in order to give a reference to the clinical treatmentmeasures.Methods A retrospective analysis was made on the pathogen distribution and therapeuticeffect of 43 patients with intracranial infection and positive cerebrospinal fluid cultures after open cranioto-my from May 2007 to May 2013.Cerebrospinal fluid was cleared using the intraventricular catheter orlumbar catheter combined with intraventricular (ventricular irrigation) or intraspinal (intrathecalirrigation) injection of antibacterial agents.Results To test bacteria in cerebrospinal fluid pathogencultures,34 cases were infected with single strain (26 Gram-positive bacteria and 8 Gram-negativebacteria) and 9 cases had mixed infection with multiple strains.Fifty-two pathogen strains were isolated,including 32 (62％) Gram-positive bacteria,18 (35％) Gram-negative bacteria,2 (4％) fungi.A totalof 29 cases were cured (67％),7 improved (16％),and 7 ineffective (16％).Conclusions Cere-brospinal fluid pathogen infection is primarily Gram-positive bacterial infection,usually staphylococcusepidermidis and staphylococcus aureus.Gram-negative pathogens are acinetobacter,klebsiella,andpseudomonas aeruginosa.Ventriculoperitoneal shunting surgery and craniocerebral surgery are often asso-ciated with mixed infection of pathogens.Ventricular irrigation allows better results than intrathecal irriga-tion.Indications of intrathecal irrigation treatment used to control intracranial infection after ventriculoper-itoneal shunting surgery and craniocerebral surgery should be strictly performed.
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Objective To determine the prevalence of latex glove(LG)-induced type Ⅳ hypersensitivity in clinical nurses. Methods 100 clinical nurses were selected,among whom 69 nurses were set as the latex glove hypersensitivity group,and the other 31 nurses did not show hypersensitivity to latex glove (the control group).The two groupe underwent a patch testing with a modified European standard series of allergens supplied by Chemotechnique Diagnostics.The positive allergens were compared between the two groups. Results The positive rate of patch testing in patients of the latex glove hypersensitivity group was superior to that in the control group (73.9％ vs 25.8％).Cobalt chloride and potassium dichromate were the most common allergens in both groups,while only formaldehyde and para-phenylenediamine were more susceptible in the latex glove hypersensitivity group compared with that in the control group.26.1％ of the latex glove hypersensitivity group was responsive to rubber additives,but in the control group the results were negative.Conclusions The hand dermatitis of female nurses with LG allergy is mainly caused by exposure to daily necessities.The prevalence of LG-induced type Ⅳ hypenensitivity is relatively high in clinical murses.
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A 27-year-old woman who suffered from a 2-year history of systemic lupus erythematosus (SLE) presented with a 6-month history of nodules and ulcer on the right lower extremity. Direct microscopic examination of the pus showed branched and septate hyphae and spores in a chain-like arrangement.Histopathological examination revealed yellowish brown hyphae and spores. Dark green velvety colony grew on Sabouraud dextrose agar (SDA). Slide culture showed branched, septate hyphae and spine-like annellated conidiophores. The isolate was identified as Exophiala spinifera by DNA sequence analysis. The strain was unable to liquefy gelatin, could grow at 25 ℃ to 39 ℃, and was sensitive to itraconazole, amphotericin B and terbinafine. Animal test revealed that the infection induced by Exophiala spinifera in immunocompromised mice was more severe than that in normal controls. Based on the clinical features, histopathological, fungal culture and DNA sequencing results, the patient was diagnosed with systemic lupus erythematosus accompanied by subcutaneous phaeohyphomycosis caused by Exophiala spinifera.
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Objective To investigate the role of vascular endothelial growth factor (VEGF) and transforming growth factor-α (TGF-α) in the angiogenesis of condyloma acuminatum (CA). Methods Tissue specimens were obtained from the lesions of 30 patients with CA and foreskin of 15 normal human controls. Reverse transcription (RT)-PCR and immunohistochemical method were utilized to measure the protein and mRNA expressions of VEGF and TGF-α in the specimens. Microvessel density (MVD) was determined by staining with anti-CD34 polyclonal antibodies. Results A statistical elevation was observed in the expression of VEGF and TGF-α mRNA as well as MVD in CA specimens compared with the normal control specimens (P < 0.001, 0.001, 0.01). The expressions of VEGF and TGF-α protein were observed in 90% and 86.7% of the CA specimens, and in 40% and 26.7% of the control specimens (both P < 0.01). MVD was positively correlated with the expression of VEGF and TGF-α protein in CA tissues (both P < 0.01). Conclusion The overexpression of VEGF and TGF-α in CA tissue may accelerate angiogenesis in, and participate in the development and progression of, CA.
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Objective: To construct the insulin-like growth factor binding protein 7 (IGFBP7) expression plasmid (pEGFC1-IGFBP7) and to investigate the effect of IGFBP7 on the apoptosis of SK-MEL-28 (human malignant melanoma cell line) cells. Methods: The pEGFC1-IGFBP7 plasmid was constructed; pEGFC1-IGFBP7 and empty plasmids were transfected into SK-MEL-28 cells separately. The transfection efficiency was observed under fluorescence microscope. Apoptosis of SK-MEL-28 cells after transfection was detected by Annexin-FITC/PI staining. Results: The pEGFC1-IGFBP7 plasmid was successfully constructed and was effectively transfected into SK-MEL-28 cells by Effectene reagent, with the transfection rate being 61%. The results of flow cytometry showed that pEGFC1-IGFBP7 significantly induced apoptosis of SK-MEL-28 cells, with the apoptotic rates of pEGFC1-IGFBP7, empty vector, and non-transfected plasmid groups being (28.4±2.57)%, (5.8±0.44)%, and (6.4±0.71)% 24 h after transfection, respectively (F=406.138, P<0.05). Conclusion: pEGFC1-IGFBP7 can effectively induce apoptosis of malignant melanoma SK-MEL-28 cells, which provides an experimental basis for IGFBP7 gene-based therapy of malignant melanoma.
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Objective To observe the effects of substance P (SP), NK1 receptor antagonist and nitric oxide synthase (NOS) inhibitors on the secretion of nitric oxide (NO) and expression of inducible NOS (iNOS) by immortalized human keratinocyte line HaCaT. Methods The NO level in supernatant of cultured HaCaT cells was measured by nitrate reductase assay after treatment with different concentrations (10-9 to 10-6 mol/L) of SP, or the combination of SP (10-8 mol/L) and spantide (3×10-7 mol/L), aminoguanidine (10-7 mol/L), 7-nitroindazole (10-6 mol/L) or L-NAME (10-5 mol/L) for various durations. Reverse transcription-PCR was performed to measure the expression of iNOS mRNA in HaCaT cells incubated with SP of 10-8 mol/L for 1, 24 and 48 hours. Results The SP of 10-9 to 10-6 mol/L significantly induced the production of NO by HaCaT cells, and the highest level of NO was observed in HaCaT cells treated with SP of 10-8 mol/L. The synthesis of NO by HaCaT cells induced by SP was inhibited by Spantide of 3 × 10~7 mol/L at all time points (30 minutes, 1, 3, 6, 12, 24 hours, all P< 0.01), by L-NAME of 10-5 mol/L at 3 time points (30 minutes, 1, 24 hours) and by 7-nitroin-dazole of 10-6 mol/L at 2 time points (30 minutes, 1 hour, both P< 0.05), but not by aminoguanidine of 10-7 mol/L at any time point (all P > 0.05). After treatment with SP of 10-8 mol/L, the relative mRNA expression of iNOS was 0.199 ± 0.018 and 0.516 ± 0.030 at 24 and 48 hours, respectively, and there was a statistical difference between the two time points (P < 0.01). Conclusions SP can reinforce the secretion of NO by HaCaT cells via NK1 receptor activation, but iNOS is unlikely to be the primary origin of NO secreted by HaCaT cells induced by SP.
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Objective To report a case of cutaneous infection due to Trichosporon dermatis. Methods Lesional discharge and tissue were obtained and subjected to microscopic examination, fungal culture and histopathology, respectively. The fungal isolate was then identified with DNA sequence analysis, API 20C AUX system, gelatin liquefaction test, thermal tolerance test. Antifungal susceptibility test was also performed for the fungus. Results A 70-year-old male presented with a 9-month history of ulcerated swelling of the right medial malleolus after plant puncture. Direct microscopic examination of lesional discharge showed no fungal elements, but histopathological biopsy revealed hyphae and spores in the dermis. Yellowish white yeast-like colony grew on Sabouraud dextrose agar (SDA). Slide culture showed pseudohyphae, true hyphae, arthroconidia and blastoconidia. The isolate was identified as Candida humicola by API 20C AUX system, but as T. dermatis by DNA sequence analysis. The strain was unable to liquefy gelatin, could grow at 25 ℃ to 40 ℃, and was sensitive to amphotericin B, itraconazole, voriconazole and nystatin. The skin lesion completely subsided after 4-month treatment with oral itraconazole. Conclusions The isolate is identified as T. dermatis according to morphological features and DNA sequence, which is sensitive to itraconazole.
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OBJECTIVE To study risk factors in senile diabetics complicated with urinary tract infections and find out measures to cut down the incidence rate with urinary tract infection.METHODS The age,sex,hospital day,course of diabetes,blood sugar level and catheterization in 181 hospital patients of senile diabetics complicated with urinary tract infections from 2004 to 2007 were analyzed retrospectively.RESULTS The incidence of senile diabetics complicated with urinary tract infections was closely related with age,sex,hospitalization days,course of diabetes,blood sugar level and catheterization.CONCLUSIONS Control measure for risk factors in senile diabetics can actively cut down the incidence rate of urinary tract infection.
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Objective To determine the prevalence and risk factors for latex glove allergy in clini-cal nurses. Methods A serf-administered questionnaire was used to collect the information about latex glove-related allergy among clinical nursing staff in 4 general hospitals in Zhanjiang, and the risk factors were calculated with logistic regression analysis. Results Latex glove-related symptoms were reported in 16.9% of 1469 nurses. Age, employment seniority, and positive rate of personal and family history of ana-phylaetie diseases in sensitized nurses were superior to those in unsensitized ones. The positive personal and family history of hypersensitivity diseases, allergy to drugs or other materials, and working time in a room were high risk factors for the development of latex glove allergy, but the average number of gloves used in a working day was the protective factor. Conclusions Clinical nurses belong to high risk latex sensitization population, and the main risk factor is the atopie subjects.
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Objective To report a case of superficial white onychomycosis caused by Nigrospora sphaerica. Methods Natl specimens were obtained from the patient and examined by direct microscopy, fungal culture and histopathology. Subsequently, the isolate was subjected to DNA sequencing analysis, gelatin liquefaction test, antifungal susceptibility test and nail-plate invasion test. Results A 21-year-old male presented with a 5-month history of whitening of the right hallux. Direct microscopy of nail scrapings showed spores, hyphae and lobiform conidiophores, and histopathology of decalcifying nail clippings revealed the presence of fungal elements including numerous spores and hyphae. A black woolly colony was formed in Sabouraud's dextrose agar (SDA). DNA sequencing analysis showed that the isolate was highly consis-tent with genus Nigrospora. Also, the isolate possessed the ability to liquefy gelatin and to invade normal nail plate. Antifungal susceptibility test showed that the isolate was highly susceptible to itraconazole, clotrimazole, amphotericin B and nystatin. The onychomycosis was cured after 5-month treatment with oral itra-conazole pulse therapy. Conclusions The isolate is identified as Nigrospora sphaerica by morphological features and DNA sequencing analysis. It is the first reported case of superficial white onychomycosis caused by N. Sphaerica in China, and it was effectively treated by itraeonazolc.
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Objective To investigate the effect of nitric oxide (NO) on the scratching behavior evoked by substance P (SP) in mice. Methods Forty BALB/c mice were randomly divided into 5 groups to receive intradermal injection of different doses of SP (0, 20, 40, 80, 160 nmol/site) into the rostral part of the back to establish the acute itch model. Another 40 mice were randomly allocated to model, spantide, L-arginine,L-NAME and aminognanidine groups injected intracutaneously with normal saline (NS), spantide, L-arginine,L-NAME and aminoguanidine, respectively, 10 minutes before SP (80 nmol/site) injection. Subsequently,the scratching behavior was observed, iNOS expression and NO level in the injected skin were detected by immunohistochemical staining and nitrate reductase assay, respectively. Results The scratching bouts per hour induced by intradermal NS and SP of 20, 40, 80 and 160 nmol/site were 4.38±4.07, 5.38±3.78,12.75±6.52, 23.50±7.84 and 42.38±15.84, respectively, and only SP at higher doses (40 - 160 nmol/site)elicited a dose-dependent scratching response in mice (P < 0.01 or 0.05) compared with NS. The scratches over 1 hour in SP, L-arginine, spantide, L-NAME and aminognanidine group were 67.13±32.79, 70.75±34.80, 10.75±8.14, 29.00±21.19 and 35.38±22.83, respectively; of them, pretreatment with spantide,L-NAME and aminognanidine significantly inhibited SP-induced scratching (P < 0.01 or 0.05), but L-arginine showed no inhibitory effect (P > 0.05). Compared with SP, the pretreatment with spantide, L-NAME and aminoguanidine significantly downregulated the iNOS expression and NO content (P < 0.01 or 0.05) in the injected skin other than L-arginine (P > 0.05 ). Conclusion Intradermal SP could increase NO synthesis by neurokinin 1 receptor activation, resulting in the scratching behavior in BALB/c mice.
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Objective To study the relationship between cell apoptosis and mRNA expression of c-fos and BNIPl in cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). Methods Cell apoptosis and mRNA expression of c-fos and BNIP1 in 48 SCCs and 41 BCCs were determined by TUNEL and in situ hybridization, respectively. Results Apoptosis index (AI) and c-fos mRNA expression in SCCs were higher than those in BCCs (P 0.05). AI was significantly higher in well-differentiated SCCs than in poorly differentiated SCCs (P
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Objective To investigate the relationship between apoptosis of peripheral blood lymphocytes (PBLCs) and impaired immunity by assessing the apoptosis and expression of Fas and Bcl-2 in PBLCs of patients with secondary syphilis. Methods Flow cytometry (FCM) was used to detect PBLC apoptosis as well as Fas and Bcl-2 expression in 33 patients with secondary syphilis and 30 normal controls. Results The Fas expression on PBLCs and CD4+ cells was significantly higher in patients than that in controls (P 0.05). The apoptosis levels were significantly higher in PBLCs and CD4+ cells in patients than those in controls (P 0.05). In patients group, the apoptosis levels of both PBLCs and CD4+ cells had a positive correlation with the Fas expression (r = 0.68, P
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Objective To observe expression of membrane-type 1 matrix metalloproteinase-1 (MT1-MMP) and matrix metalloproteinase-2 (MMP-2) and its relation to clinicopathological characteristics in cutaneous squamous cell carcinoma (SCC) and basal cell epithelioma (BCE). Methods The expression of MT1-MMP and MMP-2 was determined in situ hybridization and ABC immunohistochemical technique respectively in 48 cutaneous SCCs and 41 BCEs. Results The expression of MT1-MMP and MMP-2 in SCC was significantly higher than that in BCE (P 0.05). Conclusions Overexpression of MT1-MMP and MMP-2 might be related to lymphatic metastasis in SCC. Expression levels of MT1-MMP and MMP-2 may not be responsible for the differentiation in aggressiveness of BCE.