The patient is an 11-year old boy, who was born with universe alopecia as well as dry and coarse skin. When he was 3 months old, photophobia was noticed, and since then, upper respiratory tract infection had occurred twice a month complicated by frequent diarrhea. He had short stature with slight conjunc- rival congestion, corneal vascularization, opacity, coarseness and poor vision. No abnormality was found in the teeth, sweating ability, or hearing. He had universal alopecia; his skin was dry and rough with generalized rhombus- or polygon-shaped scaly patches. Particularly thick brown scales were observed on the upper limbs. Moreover, there were spiny follicular papules on the abdomen and axillae, hyperkeratosis of palm and sole, and dystrophic nails. Hyperextensibility of proximal interphalangeal joints of the third, fourth and fifth fingers was noticed. He also suffered from mental retardation, the verbal intelligence quotient being 52, performance intelligence quotient lower than 40, full intelligence quotient lower than 40, but no abnormality was found in the heart, lung, liver or spleen. Histopathology of skin on the abdomen suggested a change characteristic of ichthyosis. Chromosome analysis revealed a karyotype of 46, XY. This is the first diagnosed case of ichthyosis follicularis with atrichia and photophobia syndrome in China.

Objective To determine in vitro drug susceptibility to five antifungal agents of clinical Cryptococcus neoformans strains isolated from different areas of China in recent ten years. Methods Eighty clinical isolates of Cryptococcus neoformans were isolated from Shanghai, Guangdong, Fujian, Beijing and some other areas of China from 1998 to 2007. The minimal inhibitory concentrations (MIC) of the isolates to five antifungal agents, including amphotericin B, fluconazole, flucytosine, itraconazole and voriconazole, were determined using broth microdilution procedure (document M27-A2) recommended by the Clinical and Laboratory Standards Institute (CLSI). Kruskal-Wallis rank sum test was employed for the statistical analysis. Results The MIC50 of the Cryptococcus neoforrnans isolates tested for amphotericin B, fluconazole, flucytosine, itraconazole and voriconazole were 0.5, 4, 2, 0.25 and ≤0.031 3 mg/L, respectively; and the MIC<,90> of the isolates tested for the above antifungal agents were 1, 8, 4, 0.5 and 0.062 5 mg/L, respectively. Among the tested isolates, 3 (3.8 %) were resistant to flucytosine, 4 (5.0 %) were resistant to itraconazole. All isolates were susceptible to amphotericin B and voriconazole. There was no significant difference in MIC of the strains isolated from any particular years to the five agents (χ2=0.500,2.687,2.211, 2.660,0.677,P>0.05). Conclusions The Cryptococcusneoformans isolates are highly susceptible to the five antifungal agents, while a few strains are resistant to flucytosine or itraconazole. The drug susceptibilities of the strains isolated from particular years are similar.

To report a case of 16-month-old boy with anhidrotic ectodermal dysplasia with immunodeficiency who experienced disseminated herpes simplex infection. From 2 months of age, the patient experienced multiple pyrexial episodes of undetermined origin, which responded well to anti-inflammatory agents after undressed. Abnormal sweat with dry skin was noted; therefore, the skin biopsy of right axilla was performed at 7 months of age, and suggested a diagnosis of anhidrotic ectodermal dysplasia. Since 6 months of age, he developed recurrent upper respiratory infections and 2 episodes of pneumonia. Twenty days before, several glossal erosions occurred in the patient, supervened by painful and erosive eruptions and numerous blisters around the mouth and both hands with hyperpyrexia. Four days before, the patient was transferred to the department owing to skin lesion exacerbation. Cutaneous examination showed multiple crested or ulcerated plaques distributed eriorificially (mouth and nasal cavity) on the face. Several irregular, demarcated ulcers were scattered on the buttocks, scrotum and lower limbs, surrounded by grouped and umbilicated vesicles arising on erythema. Both hands were swelling, crusting and painful. Dentition was abnormal, and the patient had only 2 upper conical incisors. Routine investigation revealed that white cell count and C-reactive protein extremely elevated. Immunologic profile showed an abnormal distribution of lymphocyte subsets with decreased CD3+ T cells, CD8+ T cells and NK cells. Serum IgM level was slightly low. IgM antibodies to herpes simplex virus type 1 (HSV-1) were detected by serological testing. Based on the above-mentioned features, a diagnosis of anhidrotic ectodermal dysplasia with immunodeficiency and disseminated herpes simplex infection was confirmed. The patient was resolved favourahly after intravenous ganciclovir and antibiotics for 3 weeks without relapse of skin lesions.

Objective:The purpose of this study is to investigate the expression of tumor stem cell marker aldehyde dehydrogE-nase 1 (ALDH1) in breast cancer and its clinical significance. Methods:The expression of ALDH1 protein was examined by immunohistochemical staining in 92 breast cancer tissues. The correlation analysis and diseasE-free survival analysis of patients was evaluated based on the clinical follow-up data. Results:Expression of ALDH1 protein had a significant correlation with progesterone receptor (PR) and cerb-B2 (P<0.05), but had no significant correlation with age, tumor size, clinical staging, and lymph node metastasis (P>0.05). The 2-year diseasE-free survival rate of AlDH1-positive patients was lower than that of ALDH1-negative patients (P<0.05). ALDH1-positive patients, who received CEF regimen chemotherapy and hormone therapy, had lower 2-year diseasE-free survival rate than that of ALDH1-negative patients (P<0.05). Conclusion:The decreased diseasE-free survival rate of ALDH1-positive patients is related with drug resistance. ALDH1 could be used as an independent factor for predicting the prognosis of breast cancer.

ObjectiveTo observe the expressions of PPAR-γ protein during the course of pancreatic fibrosis of chronic pancreatitis (CP) in Wistar rats and its significance.Methods Bibutyltin dichloride ( DBTC,8 mg/kg body weight) in a volume of 200 ml solvent was injected into the tail vein to establish the CP rat's model.Wistar rats were randomly divided into control group and 1,3,5,7,14,42 d group according to weights.Pancreatic tissue underwent routine pathological examination,and collagen accumulation in pancreatic sections was determined by staining for Sirius Red.Pancreatic myeloperoxidase (MPO)activity was determined.Expressions of α-SMA and PPAR-γ proteins were assessed by immunohistochemical method.Results Light microscopy showed signs of acute pancreatitis with interstitial edema and infiltration of neutrophilic granulocytes 7 d after DBTC injection.Acinar cells necrosis,atrophy,lymphocytes and monocytes infiltration,fibrosis within lobule and peri-lobule as well as pancreatic duct changes were found,which was in accord with the course from AP to CP.One days after induction,the activity of MPO,expressions of α-SMA was significantly increased[ (0.78 ±0.71) vs (0.15 ±0.05)U/g,6.67 ±3.14 vs 0,P＜0.05],then it did not increase with time of induction.Seven days after induction,collagen level reached the peak [ (45.42 ±15.99)％ ],which was significantly higher than that in control group [ (10.87 ± 2.28 )％,P ＜ 0.05 ].Collagen fibers accumulated from periductal to intra-acinar and/or inter-acinar areas.In control rats,the expression of PPAR-γ protein was positive only in vessel walls,and the expression level was 0.17±0.41 and increased with time of induction,then reached the peak of 4.83 ± 2.71 at 42 d.ConclusionsDuring the course of pancreatic fibrosis in rats,the expression of PPAR-γ protein is gradually increased,and plays a limited anti-inflammation and anti-fibrosis role.

Objective To investigate the differential expression of microRNA (miRNA) in schizophrenia (SZ) patients,and explore the comorbidity of SZ and depression disorder based upon miRNA expression.Methods Affymetrix array analysis was used to investigate the differentially expressed miRNA in SZ patients firstly,and then quantitative real-time polymerase chain reaction (qRT-PCR) was further carried out to confirm the selected miRNA in peripheral blood mononuclear cells of 40 SZ patients,whom were administered by Positive and Negative Syndrome Scale (PANSS) and the selected miRNAs in depression disorder patients has also been confirmed by Affymetrix array analysis and qRT-PCR in our previous studies.Results Affymetrix array analysis indicated that there existed 33 miRNAs which differentially expressed (32 up-regulated and 1 down-regulated) compared with normal controls.qRT-PCR results suggested that the expression of 8 miRNAs (miR-1273d,miR-1303,miR-3064-5p,miR3131,miR-3687,miR-4428,miR-4725-3p and miR-5096) were significantly up-regulated in SZ;the miRNA differentially expressed in depression disorder patients also had differential expression in SZ patients (P＜0.05).There were significant correlation between the miRNAs differentially expressed in depression disorder patients and in SZ patients (P＜0.01).MiR-1972 differentially expressed in depression disorder patients had significant positive correlation with the positive symptoms of PANSS (P＜0.05),and miR-26b was positively correlated with composite factor (P＜0.05).Conclusion Comorbidity of SZ and depression disorder is observed not only on the clinical symptoms,but on the molecular genetic basis.

A total of 127 type 2 diabetic patients were divided into low glycemic index meal replacements (intervention) group and standard food-based diet (reference) group in an experiment for 12 weeks.The results showed that fasting plasma glucose,postprandial 2 h plasma glucose,fasting insulin,and homeostasis model assessment insulin resistance(HOMA-IR) in the intervention group decreased significantly after 12 weeks trial ( P＜0.05 or P＜0.01 ).However,there were no significant changes in lipid profile and HbA1C in intervention group.In addition,percentage of body fatty,visceral fatty area,and waist-hip ratio also decreased in intervention group( all P＜0.01 ).Superoxide dismutase and glutathione levels increased significantly in intervention group by the end of trial (both P＜0.01 ),while malondialdehyde was decreased (P＜0.01 ).There were no significant changes in the aforementioned indices in the reference group.Weight,body mass index,and waist circumferences were decreased in both groups,but without significant difference between the two groups.

Objective To explore the possible correlation between HbA1c level and nutritional status in community.based patients with type 2 diabetes.Methods A totaI of 219 type 2 diabetes patients were assigned into 2 groups:one with HbAIc<6.5%(n:108)and HbA1f≥6.5%(n=111).Metabolic parameters,food components.and nutritional status were compared between 2 groups.Results (1)49.32% of the participants attained HbA1c<6.5%.(2)HbA1c level was positively correlated with fasting plasma glucose,postprandial plasma glucose,and homeostasis assessment for insulin resistance(HOMA-IR)(r were 0.56,0.49,and 0.20,respectively,P<0.05 or P<0.01),but negatively correlated with high-density lipoprotein-cholesterol(HDL-C)(r=0.16,P<0.05).(3)Linear regression analysis showed that energy,carbohydrate,protein,and fat were the independent risk factors of HbA1c(all P<0.05).(4)Patients with HbA1c<6.5%consumed more fruits.The intake of pure energy-providing foods and protein-,fat-,or saturated fatty acid-rich foods were more frequent in patients with HbA1c≥6.5%(P<0.05).(5)The linear regression revealed that HbA1c level were decreased 0.36%(P<0.10)or 0.46%(P<0.01)by intake of more fruits,roughage and beans,and HbA1c levels were also decreased 0.42%(P<0.05)or 0.37%(P<0.10)by intake of less meat or oils.Conclusions In communitybased patients with type 2 diabetes mellitus,the incidence of HbA1c<6.5% remains low,There exists great difference in nutritional status between the groups with high and low HbA1c levels.The impact of diet OB HbA1c level is great.It's necessary to emphasize the importance of diet therapy far better diabetes control.

To construct the recombinant vector Pact-EGFP, the Act-1 core promoter region was amplified from the pUCm-T/Act-1 and subcloned into pEGFP-4.1 vector (derived from pEGFP-N1 with the removal of human cytomegalovirus immediate early promoter), by restriction enzymes Bgl II and Hind III. Transfection of Pact-EGFP vector into Vero cell by liposome indicated that Act-1 core promoter regulated the expression of EGFP gene in lower level in Vero cells. After Pact-EGFP microinjection into the gonad of Caenorhabditis elegans with pRF4 as a gene marker, green fluorescence was detected in the cortex, vice cortex and the pharyngeal of C. elegans. According to the locations, two different transgene lines were separated. The expression level of EGFP expressed in C. elegans was more than that in Vero cell. Some unique motifs might exist in Act-1 core promoter region of C. elegans, which was closely related to the expression level of EGFP. These results lay the foundation for the further research on gene function of parasitic nematodes using C. elegans.
Animals ; Caenorhabditis elegans ; genetics ; metabolism ; Cercopithecus aethiops ; Connexin 43 ; genetics ; Green Fluorescent Proteins ; genetics ; metabolism ; Organisms, Genetically Modified ; Peptide Fragments ; genetics ; Promoter Regions, Genetic ; genetics ; Transcription, Genetic ; Vero Cells