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1.
Yao Xue Xue Bao ; (12): 852-855, 2023.
Article in Chinese | WPRIM | ID: wpr-978754

ABSTRACT

Nanomedicine is one of the most promising fields in biomedicine. Inorganic nanomaterials stand out among many nanomaterials due to their excellent physicochemical properties, stable chemical properties and high biocompatibility. As an inorganic nanomaterial, bismuth-based nanomaterials have the advantages of adjustable band gap, low toxicity, easy functionalization, large X-ray attenuation coefficient, high photothermal conversion efficiency and long cycle half-life, so they have good promising application in cancer diagnosis and treatment. This review summarizes the recent research progress of bismuth-based nanomaterials in tumor diagnosis, treatment and biosafety, which provides a theoretical basis for the design and exploitation of a new generation of bismuth-based nanomedicine systems.

2.
Chinese Journal of Dermatology ; (12): 756-762, 2023.
Article in Chinese | WPRIM | ID: wpr-1028830

ABSTRACT

Objective:To evaluate the efficacy of daily use of a test emollient combined with topical glucocorticoids applied at the weekend for delaying the recurrence of atopic dermatitis (AD) in children during the maintenance period.Methods:A randomized, blank-controlled, multicenter clinical study was conducted in children with moderate AD from Beijing Children′s Hospital, Capital Medical University, Children′s Hospital of Chongqing Medical University and Shenzhen Children′s Hospital from March 2021 to February 2022. A total of 127 children aged 0 - 12 years with moderate AD were treated with topical glucocorticoids combined with emollients during the run-in period, 112 out of them achieved the investigator′s global assessment (IGA) score ≤ 1 point, and then the 112 patients were randomly divided into a test group (56 cases) and a control group (56 cases) at a ratio of 1∶1. Patients in the test group received treatment with a test emollient twice a day in combination with topical glucocorticoids applied at the weekend, and those in the control group were only treated with topical glucocorticoids at the weekend. Patients in the two groups were followed up at baseline, week 2 (± 3 d), week 4 (± 5 d), and week 12 (±7 d), as well as at the time of AD relapse, and the effect of the test emollient on the remission rate of AD in children during the maintenance period was evaluated, so were its effects on the dosage of topical glucocorticoids, pruritus, sleep, and skin pH. The occurrence of treatment-related adverse events was evaluated and recorded at the same time. Study endpoints were defined as AD relapse during the maintenance period, end of 12-week follow-up, or occurrence of serious adverse events. Comparisons of efficacy indicators between groups were conducted by using chi-square test, Kaplan-Meier survival analysis, Satterthwaite t′ test and Mann-Whitney U test. Results:In the full-analysis set, 45 (80.36%) patients with AD maintained remission in the test group (56 cases) and 30 (53.57%) in the control group (56 cases), and the remission rate difference between the two groups was 26.79% (95% confidence interval [ CI]: 10.09%, 43.49%; χ2 = 9.11, P = 0.003) ; the 12-week follow-up during the maintenance period showed that the time to first relapse was 75.05 ± 25.07 days in the test group, which was significantly longer than that in the control group (49.55 ± 33.92 days, t′ = 4.52, P < 0.001). At the study endpoint, the test group showed significantly decreased AD disease severity score (eczema area and severity index [EASI] score: 0.00 [0.00, 1.20] points vs. 0.60 [0.00, 4.00] points), pruritus visual analog scale (VAS) score (0.00 [0.00, 2.00] points vs. 2. 00 [0.00, 10.00] points), and sleep VAS score (0.00 [0.00, 0.00] points vs. 1.00 [0.00, 4.00] points) compared with the control group ( Z = -2.77, 2.43, 3.48, P = 0.006, = 0.015, < 0.001, respectively), while there was no significant difference in the pH value at the lesional sites between the test group and control group ( t = 0.97, P = 0.335). For the group aged 0 - 2 years, the average daily glucocorticoid dosage at the weekend in AD children during the maintenance period was significantly lower in the test group than in the control group ( Z = -1.97, P = 0.049) ; for the group aged >2 - 12 years, there was no significant difference in the average daily glucocorticoid dosage at the weekend between the two groups ( Z = -0.25, P = 0.802). During the study period, no significant difference was observed in the incidence of treatment-related adverse events between the test group (2/56, 3.57%) and control group (3/56, 5.36%; P = 1.000), and no serious adverse events occurred. Conclusion:Compared with the weekend treatment with topical glucocorticoids alone, the daily use of the test emollient combined with topical glucocorticoids at the weekend could markedly improve the remission rate of AD, prolong the time to relapse, and reduce the disease severity at relapse in children with AD during the maintenance period, which provides a new option for maintenance treatment of children with AD.

3.
Chinese Journal of Dermatology ; (12): 815-821, 2023.
Article in Chinese | WPRIM | ID: wpr-1028843

ABSTRACT

Objective:To evaluate the efficacy and tolerability of crisaborole 2% ointment in the treatment of childhood atopic dermatitis (AD) at the early stage, and to compare the efficacy of every-other-day (Qod) regimen versus twice-a-week (Biw) regimen against recurrence in the remission stage of AD.Methods:A multicenter, randomized, open-label clinical trial was conducted. Totally, 150 children with mild to moderate AD aged 2 - < 18 years were enrolled from 6 hospitals (including Beijing Children′s Hospital, Capital Medical University, etc), and randomly divided into the Qod group (76 cases) and the Biw group (74 cases). In the acute stage of AD, both groups were treated with topical crisaborole 2% ointment on skin lesions twice a day for 2 - 4 weeks, as well as with emollients throughout the whole body. The improvement of early clinical symptoms was evaluated, and the occurrence of adverse reactions was recorded in the follow up. Once the investigator′s static global assessment (ISGA) scores decreased to 1 point or less, the patient would be enrolled into the remission stage. In the remission stage of AD, patients in the Qod group and Biw group were treated with crisaborole ointment every other day and twice a week respectively; the recurrence rate of AD in the remission stage was evaluated, as well as the severity of skin lesions, itching, life quality, and the occurrence of adverse reactions at weeks 4, 8, and 12. Statistical analysis was carried out with SPSS 23.0 software by using t test for comparisons of normally distributed continuous data between two groups, Mann-Whitney U test for non-normally distributed data, chi-square test for enumeration data, and Kaplan-Meier method for analysis of survival rates. Results:A total of 142 patients were enrolled in the modified intention-to-treat population, including 71 in the Qod group and 71 in the Biw group. In the acute stage of AD, the improvement of itching and skin lesions self-reported by the children or their family members occurred on days 1.9 (1.0, 3.0) and 2.0 (1.0, 4.1) after the application of crisaborole ointment, respectively. At the end of treatment in the acute stage, 89 children (62.7%) achieved ISGA 0/1 and successfully transferred into the remission stage. The follow-up in the remission stage was completed in 83 patients (44 in the Qod group and 39 in the Biw group). In addition, recurrence occurred in 19 (43.2%) and 12 (30.8%) patients in the Qod group and Biw group respectively, and there was no significant difference in the recurrence rate between the two groups ( χ2 = 1.36, P = 0.243) ; the average time to recurrence was 64.25 (95% CI: 53.33 - 75.17) days and 75.78 (95% CI: 65.46 - 86.10) days in the Qod group and Biw group respectively. Among the patients who were in the remission stage and had not yet experienced relapse at weeks 4, 8, and 12, there were no significant differences in the eczema area and severity index (EASI) scores, ISGA scores, pruritus numerical rating scale (NRS) scores, or quality-of-life scores between the two groups (all P > 0.05) at any time points, except for the ISGA scores at week 12 (Biw group: 0 [0, 1] point vs. Qod group: 1 [0, 1] point; Z = -2.31, P = 0.021). A total of 146 patients were enrolled in the safety set. During the study period, 70 adverse events occurred in 65 patients, with an incidence rate of 44.5%, and all were mild or moderate adverse events; 55 (37.7%) patients experienced discomfort at the medication site, which mainly referred to pain (45 cases, 30.8%) and mostly occurred in the tender and skinfold areas. Conclusions:Crisaborole 2% ointment could effectively relieve clinical symptoms in children with mild to moderate AD in the early stage, and intermittent treatment could continuously relieve clinical symptoms in the remission stage. The common adverse reaction was discomfort at the application site in the early stage of AD. There was no significant difference in the impact on AD recurrence in the remission stage between the Qod regimen and Biw regimen.

4.
Zhonghua Yu Fang Yi Xue Za Zhi ; (12): 1848-1854, 2023.
Article in Chinese | WPRIM | ID: wpr-1045948

ABSTRACT

To analyze the clinical characteristics and treatment status of atopic dermatitis (AD) in children in the outpatient department of a children's hospital in Beijing from 2015 to 2019. This study used a cross-sectional study method to retrospectively analyze the data of AD patients who visited the Dermatology outpatient department of Beijing Children's Hospital, Capital Medical University, from April 2015 to April 2019. A total of 1 926 AD patients aged 0-17.5 years old living in Beijing and its surrounding areas were included, and the general situation, severity and distribution of AD disease, clinical characteristics and severity of AD, relevant influencing factors of AD onset, AD disease prognosis and treatment status were recorded. SAS 9.4, SPSS19.0, and R software were used for data processing, and descriptive statistical analysis, Chi-square test, Analysis of Variance, and correspondence analysis were used for statistical analysis. The results showed that the male to female ratio of AD patients in children included in this study was 1.4∶1; 79.0% (1 522/1 926), 86.1%(1 658/1 926), 91.3%(1 758/1 926), and 97.3%(1 907/1 926) of AD onset at the age of 6 months, 1 year, 2 years, and 5 years, respectively; mild of AD patients accounted for 13.2% (255/1 926)(SCORAD score 0-24), moderate of AD patients accounted for 50.1%(965/1 926) (SCORAD score 25-50), and severe of AD patients accounted for 36.7% (706/1 926)(SCORAD score>50).The age of severe AD patients were younger than mild and moderate AD patients. The face, head, trunk, and lower limbs were common areas of onset for moderate to severe AD, while the hands, feet, and ears were common areas of onset for severe AD patients. Temperature changes, hot water factors, mental and emotional states, and spring and winter were the main aggravation factors of AD;35.2% (678/1 926) aggravated and 61.8% (1 191/1 926) persistent. The more frequent bathing, the less severity of AD disease (χ2=29.791,P<0.001); 28.0% (520/1 856) of AD patients have no moisturizing habits, which were correlated with the severity of AD disease (χ2=15.908, P<0.05); the proportion of combined treatment medications in children with moderate to severe AD was significantly higher than mild AD patients. In conclusion, the patients with AD who went to specialist clinics were mainly moderate to severe patients and developed disease before the age of 5 years from 2015 to 2019.The severity of AD were mainly moderate to severe, and most of these patients had poor disease control. Traditional treatment plans had limitations. Identifying the clinical characteristics and treatment status of childhood AD would help us to carry out more targeted prevention and management work.


Subject(s)
Humans , Child , Male , Female , Infant, Newborn , Infant , Child, Preschool , Adolescent , Dermatitis, Atopic/psychology , Cross-Sectional Studies , Retrospective Studies , Severity of Illness Index , Hospitals , Quality of Life
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; (12): 1848-1854, 2023.
Article in Chinese | WPRIM | ID: wpr-1046271

ABSTRACT

To analyze the clinical characteristics and treatment status of atopic dermatitis (AD) in children in the outpatient department of a children's hospital in Beijing from 2015 to 2019. This study used a cross-sectional study method to retrospectively analyze the data of AD patients who visited the Dermatology outpatient department of Beijing Children's Hospital, Capital Medical University, from April 2015 to April 2019. A total of 1 926 AD patients aged 0-17.5 years old living in Beijing and its surrounding areas were included, and the general situation, severity and distribution of AD disease, clinical characteristics and severity of AD, relevant influencing factors of AD onset, AD disease prognosis and treatment status were recorded. SAS 9.4, SPSS19.0, and R software were used for data processing, and descriptive statistical analysis, Chi-square test, Analysis of Variance, and correspondence analysis were used for statistical analysis. The results showed that the male to female ratio of AD patients in children included in this study was 1.4∶1; 79.0% (1 522/1 926), 86.1%(1 658/1 926), 91.3%(1 758/1 926), and 97.3%(1 907/1 926) of AD onset at the age of 6 months, 1 year, 2 years, and 5 years, respectively; mild of AD patients accounted for 13.2% (255/1 926)(SCORAD score 0-24), moderate of AD patients accounted for 50.1%(965/1 926) (SCORAD score 25-50), and severe of AD patients accounted for 36.7% (706/1 926)(SCORAD score>50).The age of severe AD patients were younger than mild and moderate AD patients. The face, head, trunk, and lower limbs were common areas of onset for moderate to severe AD, while the hands, feet, and ears were common areas of onset for severe AD patients. Temperature changes, hot water factors, mental and emotional states, and spring and winter were the main aggravation factors of AD;35.2% (678/1 926) aggravated and 61.8% (1 191/1 926) persistent. The more frequent bathing, the less severity of AD disease (χ2=29.791,P<0.001); 28.0% (520/1 856) of AD patients have no moisturizing habits, which were correlated with the severity of AD disease (χ2=15.908, P<0.05); the proportion of combined treatment medications in children with moderate to severe AD was significantly higher than mild AD patients. In conclusion, the patients with AD who went to specialist clinics were mainly moderate to severe patients and developed disease before the age of 5 years from 2015 to 2019.The severity of AD were mainly moderate to severe, and most of these patients had poor disease control. Traditional treatment plans had limitations. Identifying the clinical characteristics and treatment status of childhood AD would help us to carry out more targeted prevention and management work.


Subject(s)
Humans , Child , Male , Female , Infant, Newborn , Infant , Child, Preschool , Adolescent , Dermatitis, Atopic/psychology , Cross-Sectional Studies , Retrospective Studies , Severity of Illness Index , Hospitals , Quality of Life
6.
Article in Chinese | WPRIM | ID: wpr-1024647

ABSTRACT

Objective:To investigate the effect of high concentration electrolyte on fat emulsion stability in multi-chambered bag parenteral nutrition, and to protect clinical drug safety.Methods:Multi-chambered bag parenteral nutrition with the same composition containing high concentration electrolyte were used, except for that water-soluble vitamins, fat-soluble vitamins, sodium glycerophosphate and trace elements were supplemented in the experimental group only. The appearance, pH, osmolality and average particle size were examined at 0, 12, 24, 36, 48, 60, 72, and 168 hours after preparation under room temperature.Results:There was no flocculation or oil-water separation in both groups. The pH value was 5.73 to 5.83 for the experimental group, while that was 5.52 to 5.57 for the control group ( P<0.001). For both groups, the comparison between 0 and 168 hours showed significant differences ( P<0.001). The osmolality was significantly different between the experimental group (1 076-1 117 mOsmol/kg) and the control group (1 072-1 104 mOsmol/kg, P=0.012), but showed no statistical significant difference across examined time points within each group ( P>0.05). The average particle size was 296.1 to 310.9 nm for the experimental group, and 296.6 to 334.9 nm for the control group, showing no statistical significant difference ( P=0.096). The particle size showed no profound changes over time in both groups ( P>0.05). Conclusions:The average particle size of fat emulsion in multi-chambered bag parenteral nutrition were basically stable over 168 hours after preparation under room temperature. The addition of water-soluble vitamins, fat-soluble vitamins, sodium glycerophosphate and trace elements had no significant impact on the stability of fat emulsion.

7.
Chinese Journal of Dermatology ; (12): 299-303, 2022.
Article in Chinese | WPRIM | ID: wpr-933547

ABSTRACT

Objective:To investigate short-term efficacy and safety of subcutaneous injection of dupilumab in the treatment of moderate-to-severe childhood atopic dermatitis (AD) .Methods:A retrospective study was conducted on clinical data from children who were diagnosed with moderate-to-severe AD and subcutaneously injected with dupilumab in Department of Dermatology, Beijing Children′s Hospital, Capital Medical University from March 2021 to August 2021. Changes in the Eczema Area and Severity Index (EASI), itch Numeric Rating Scale (NRS) score, SCORing Atopic Dermatitis (SCORAD) index, and Dermatology Family quality of life Index (DFI) were analyzed before and 4 weeks after the first subcutaneous injection of dupilumab. Adverse events were collected during the first injection to the first follow-up visit at week 4 after the start of treatment. Normally distributed measurement indices were compared by using paired t test, non-normally distributed measurement indices were compared by using signed rank test, and logistic regression analysis was used to evaluate the effects of disease duration, eosinophil counts, IgE levels, personal and family history of allergic diseases on EASI50 (≥ 50% decrease in the EASI score) after dupilumab treatment. Results:A total of 39 children were enrolled in this study, including 21 males and 18 females. Twenty-one patients were aged 2 to < 6 years, 18 were aged 6 to < 18 years, and their median age ( Q1, Q3) was 65.0 (53.0, 111.0) months. Four weeks after the single-dose subcutaneous injection of dupilumab, 18 patients (84.85%) achieved ≥ 50% decrease in EASI score, 13 (60.61%) ≥ 75% decrease in EASI score; 18 (75.76%) experienced a decrease of ≥ 4 points in peak NRS, and 20 (81.82%) ≥ 3 points in peak NRS; the SCORAD score decreased by ≥ 50% in 15 (68.75%) patients, and by ≥ 75% in 7 (18.75%). Neither common adverse events such as conjunctivitis, skin infections, injection site reactions, nor serious adverse events were observed in any of the children from the first injection to the first follow-up visit at week 4. Logistic regression analysis showed no significant effect of the disease duration, eosinophil counts, IgE levels, personal or family history of allergic diseases on EASI50 (all P > 0.05) . Conclusion:A single-dose subcutaneous injection of dupilumab can markedly improve pruritus and severity of skin lesions in children with moderate-to-severe AD, and enhance the family quality of life, with favorable short-term safety.

8.
Korean j. radiol ; Korean j. radiol;: 901-910, 2022.
Article in English | WPRIM | ID: wpr-938774

ABSTRACT

Objective@#This study aimed to assess the technical feasibility, efficacy, and safety of the safe triangular working zone (STWZ) approach applied in percutaneous vertebroplasty (PV) for spinal metastases involving the posterior part of the vertebral body. @*Materials and Methods@#We prospectively enrolled 87 patients who underwent PV for spinal metastasis involving the posterior part of the vertebral body, with or without the STWZ approach, from January 2019 to April 2022. Forty-nine patients (27 females and 22 males; mean age ± standard deviation [SD], 57.2 ± 11.6 years; age range, 31–76 years) were included in group A (with STWZ approach), accounting for 54 vertebrae. Thirty-eight patients (18 females and 20 males; 59.1 ± 10.9 years; 29–81 years) were included in group B (without STWZ approach), accounting for 57 vertebrae. Patient demographics, procedure-related variables, and pain relief as assessed using the visual analog scale (VAS) were collected at different time points. Tumor recurrence in the vertebrae after PV was analyzed using Kaplan–Meier curves. @*Results@#The STWZ approach was successful from T1 to L5 without severe complications. Cement filling was satisfactory in 47/54 (87.0%) and 25/57 (43.9%) vertebrae in groups A and B, respectively (v< 0.001). Cement leakage was not significantly different between groups A and B (p= 1.000). Mean VAS score ± SD before and 1 week and 1, 3, 6, 9, and 12 months after PV were 7.6 ± 1.8, 4.2 ± 2.0, 2.7 ± 1.9, 1.9 ± 1.5, 1.7 ± 1.4, 1.7 ± 1.1, and 1.6 ± 1.3, respectively, in group A and 7.2 ± 1.7, 4.0 ± 1.3, 3.4 ± 1.6, 2.4 ± 1.2, 1.8 ± 1.0, 1.4 ± 0.5, and 1.7 ± 0.9, respectively, in group B. Kaplan–Meier analysis showed a lower tumor recurrence rate in group A than in group B (p = 0.001). @*Conclusion@#The STWZ approach may represent a new, safe, alternative/auxiliary approach to target the posterior part of the vertebral body in the PV for spinal metastases.

9.
JOURNAL OF RARE DISEASES ; (4): 268-277, 2022.
Article in Chinese | WPRIM | ID: wpr-1005014

ABSTRACT

  Objective  To summarize the clinical and genetic features of children with autosomal dominant and recessive hyperimmunoglobulin E syndrome (HIES).  Methods  HIES patients were studied at the dermatology department of Beijing Children's Hospital, Capital Medical University were collected, from January 2013 to December 2021, diagnosed by both clinical manifestation and genetic assessment. The general data were summarized, the clinical and genetic characteristics were analyzed, and the similarities and differences between autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) were compared.  Results  A total of 7 children with HIES were studied, including 3 cases of AD-HIES and 4 cases of AR-HIES. There were 4 males and 3 females. All children had recurrent eczema-like lesions, recurrent skin and pulmonary infections, and elevated serum IgE and eosinophil levels. The differences between AD-HIES and AR-HIES mainly include: the main cutaneous infection in 3 children with AD-HIES were bacterial infections (such as abscess and impetigo), while in 4 children with AR-HIES, cutaneous infections were mostly severe viral infection (such as verruca vulgaris and molluscum contagiosum). There were pulmonary parenchymal changes (such as pneumatoceles, cyst and atelectasis) in 3 children with AD-HIES, whilst there were no similar changes in the lungs of 4 children with AR-HIES; 75% of children with AR-HIES had allergic diseases (including asthma and food allergy), while there were no reports of allergic diseases in children with AD-HIES. As for manifestations outside of immune system, AD-HIES was more likely to appear facial dysmorphism(such a broad nasal bridge and a high-arched palate). Furthermore, the incidence of tumor in AR-HIES was higher than that in AD-HIES. AD-HIES was mainly caused by the mutation of STAT3 gene, and AR-HIES was mainly caused by the mutation of DOCK8 gene. We reported two new mutation sites of DOCK8 gene c.1798-2A > T and c.874G > A in two cases, respectively.  Conclusions  For children with clinical manifestations of recurrent eczema-like lesions, repeated infection and significant increase in serum IgE levels, HIES should be suspected, and genetic screening should be carried out to make definite diagnosis and classification, to achieve better long-term management and improve prognosis.

10.
Article in Chinese | WPRIM | ID: wpr-1014291

ABSTRACT

Aim To explore the regulatory effect of lncRNA-ZFASl on myocardial fibrosis. Methods The mouse model of myocardial fibrosis was established by ligating the left anterior descending coronary artery of heart; the lncRNA-ZFASl cardiac-specific transgenic mice were constructed by CRISPR/Cas9 technology. Masson staining was used to detect the fibrosis of heart tissues ; angiotensin E ( Ang H ) was added to cardiac fibroblasts to establish an in vitro myocardial fibrosis model, and siRNA was transfected to knock down lncRNA-ZFASl ; MTT method was used to detect the proliferation of cardiac fibroblasts; real-time quantitative PCR ( qRT-PCR ) was used to detect the expression of lncRNA-ZFASl, transforming growth factor ßl (TGFßl), type I collagen (Collai) and type M col¬lagen (Col3al). Western blot was used to detect a-SMA expression. Results In cardiac tissues of myo¬cardial fibrosis model mice, the expression of lncRNA-ZFASl significantly increased. Knocking down of lncRNA-ZFASl significantly reduced the expression of CoBal and TGFßl in Ang II treated cardiac fibroblasts. Collagen deposition appeared in cardiac tissues of lncRNA-ZFASl transgenic mice, and the expression of a-SMA, Collai and CoBal markedly increased. Conclusions The high expression of lncRNA-ZFASl in heart tissues could induce myocardial fibrosis, and knocking down lncRNA-ZFASl could alleviate myocardial fibrosis.

11.
Article in Chinese | WPRIM | ID: wpr-905401

ABSTRACT

Objective:To analyze the changes of electroencephalogram (EEG) before and after treatment in patients with post-stroke cognitive impairment (PSCI). Methods:From October, 2018 to April, 2019, twelve PSCI patients received cognitive training and repetitive transcranial magnetic stimulation for six weeks. They were assessed with Mini-Mental State Examination, Montreal Cognitive Assessment and modified Barthel Index before and after treatment, while their closed-eye resting EEG were collected. Results:The scores of all the assessments improved after treatment (|t| > 3.507, P < 0.01); while alpha absolute power and alpha relative power increased (|t| > 2.522, P < 0.05), and brain symmetry index and DTABR decreased (t > 2.435, P < 0.05). Conclusion:The characteristics of EEG of PSCI patients changes with the recovery of cognitive function. Further research is needed about the relationship between EEG and cognitive function.

12.
Chinese Journal of Dermatology ; (12): 266-270, 2020.
Article in Chinese | WPRIM | ID: wpr-870262

ABSTRACT

Objective:To detect gene mutations in two patients with xeroderma pigmentosum (XP) .Methods:Clinical data were collected from two patients with XP. DNA was extracted from peripheral blood of the patients and their parents, and high-throughput whole-exome sequencing was performed in the patient to identify pathogenic gene mutations. Then, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents, with a focus on mutations in the candidate genes XPA, ERCC3, XPC, ERCC2, DDB2, ERCC4, ERCC5 and POLH.Results:Case 1, a 3-year-old male patient, presented with brown spots and hypopigmented macules on the face, ears, neck and back of both hands for 2 years, as well as gait instability for 1 year. The skin lesions were mainly distributed in sun-exposed areas and worsened in summer. Case 2, a male patient aged 1 year and 5 months, presented with scattered brown spots and a few hypopigmented macules on the face for 1 year. Genetic testing showed compound heterozygous mutations in the ERCC2 gene of case 1, including c.1805G>A (p.Gly602Asp) mutation inherited from his father and c.586C>T (p.Arg196Ter) mutation inherited from the his mother, so case 1 was diagnosed with XP group D (XPD) . Compound heterozygous mutations were identified in the ERCC5 gene of case 2, including c.2533+2T>C mutation inherited from his father and c.2453C>T (p.Ala818Val) mutation inherited from his mother, so case 2 was diagnosed with XP group G (XPG) . The c.586C>T (p.Arg196Ter) and c.2533+2T>C mutations had not been reported before. Sun protection was suggested. After a follow-up of 2 years, skin lesions increased in the 2 patients, but no malignant tumors occurred.Conclusions:The compound heterozygous mutations in the ERCC2 gene can lead to XPD, mainly manifesting as cutaneous and neurological symptoms, while the compound heterozygous mutations in the ERCC5 gene can lead to XPG, manifesting as a mild phenotype. Early clinical features combined with genetic testing are helpful for accurate diagnosis and classification of XP.

13.
Chinese Journal of Dermatology ; (12): 537-541, 2019.
Article in Chinese | WPRIM | ID: wpr-755796

ABSTRACT

Objective To evaluate the effect of an emollient containing Prinsepia utilis Royle oil extracts and other extracts on clinical symptoms and disease recurrence in children aged 2-12 years with atopic dermatitis (AD) in the remission period.Methods A multicenter,randomized,parallel-group,controlled clinical trial was conducted from December 2017 to September 2018.A total of 297 children aged 2-12 years with moderate AD were enrolled from 5 hospitals in China,and randomly divided into the test group (148 cases) and control group (149 cases).In the acute stage,the two groups were both topically treated with mometasone furoate cream once a day on the skin lesions,and with an emollient containing Prinsepia utilis Royle oil extracts and other extracts twice a day throughout the whole body for 2-4 weeks.The children would be enrolled into the remission stage if their Investigator's Global Assessment (IGA) score was ≤ 1 at following visits.In the remission stage,the test group was only topically treated with the emollient twice a day throughout the whole body,while mometasone furoate cream and the emollient were both withdrawn in the control group.At weeks 4,8 and 12 in the remission stage,the recurrence of AD,eczema area and severity index (EASI),children's dermatology life quality index (CDQOL) and adverse events were evaluated.Statistical analysis was carried out with SAS 9.4 software by using t test for comparison of normally distributed continuous data between two groups,chi-square test for comparison of unordered categorical data,Kaplan-Meier method for analysis of survival rates,Cox regression analysis for evaluating the effect of different therapies on AD recurrence in children in the remission stage,and Logistic regression analysis for analysis of odds ratio (OR) of EASI or CDQOL at week 4 in the remission stage between the test group and control group.Results Of the 297 children with AD,31 breached the clinical trial protocol,and 266 were included in the per protocol set (PPS),including 132 in the test group and 134 in the control group.In the PPS,114 and 106 patients completed the follow-up in the test group and control group respectively,and the recurrence rate was significantly lower in the test group (47,41.23%) than in the control group (84,79.25%;x2 =32.96,P < 0.001).The time to recurrence was significantly longer in the test group(61.99 d ± 2.80 d)than in the control group(39.17 d ± 2.54 d,t =6.03,P < 0.001),and the recurrence risk was significantly lower in the test group than in the control group (Log rank test,x2 =32.02,P < 0.001).After adjustment for age and gender,Cox regression analysis showed that the recurrence risk in the test group was 0.35 times that in the control group (HR =0.35,95% CI:0.24-0.51,P < 0.01).At week 4 in the remission stage,the EASI score at P50-P75 and P75-P100 in the test group were 0.42,0.25 times that in the control group respectively (95% CI:0.20-0.86,0.12-0.54 respectively;P =0.02,< 0.01respectively).Moreover,the CDQOL score at P75-P100 in the test group was 0.33 times that in the control group (95% CI:0.17-0.65,P < 0.01).No significant difference in the incidence of adverse events was observed between the two groups (P > 0.05).Conclusion Maintenance treatment with the emollient containing Prinsepia utilis Royle oil extracts and other extracts can markedly reduce the recurrence risk in AD children,improve clinical symptoms,and enhance the quality of life.

14.
Article in Chinese | WPRIM | ID: wpr-844039

ABSTRACT

Objective: To investigate the changes of intrapulmonary vascular volume (IPVV) of patients with chronic obstructive lung disease (COPD) based on computer-assisted measurement. Methods: One-hundred and sixty-seven male COPD patients were collected retrospectively from the "Digital Lung" database, and divided into four subgroups: GOLD 1, GOLD 2, GOLD 3 and GOLD 4 according to the pulmonary function test of Global Initiative for Chronic Obstructive Lung Disease (GOLD). Chest CT images of 315 non-smoking normal males were collected from the "Digital Lung" database. The intrapulmonary vessels were extracted by an automated 3-dimentional protocol, IPVV of the whole lung and each lobe were obtained. The differences in IPVV between COPD and normal groups and among different COPD subgroups were compared. Results: The IPVV of the whole lung and each lobe of COPD was significantly larger than that in normal control group (P0.05). Conclusion: IPVV is a sensitive biomarker between normal cohorts and COPD patients, but cannot differentiate COPD stages.

15.
Journal of Practical Radiology ; (12): 932-936, 2018.
Article in Chinese | WPRIM | ID: wpr-696941

ABSTRACT

Objective To investigate the changing curve of mean lung density (MLD)in normal preschool children based on CT quantitative measurement.Methods Chest CT data of 409 preschool children were reviewed retrospectively from the "digital lung"database.A computerized algorithm based on the "digital lung"was applied to all examinations in a batch manner.The MLD values of total lung,right lung,left lung and each lobe were obtained automatically.Results There was no correlation between the gender and MLD,however a moderately negative correlation was found between the age of month and MLD (P<0.05).No significant difference of MLD was found between genders of the same age of month group,except in left lower lobe of 49-60 months of age (P=0.043). The MLD was decreased gradually with age (P<0.05).Conclusion There is not a statistical difference in MLD between the preschool boys and preschool girls of the same age of month.With the growth of preschool children,the MLD is gradually decreased.

16.
Article in Chinese | WPRIM | ID: wpr-705309

ABSTRACT

OBJECTIVE To explore the protection mechanism of metformin and tanshinone IIA on myocardial injury. METHODS The cultured neonatal rat ventricular cells (NRVCs) were exposed to 100 μmol·L-1H2O2to simulate the in vitro model of ischemia-reperfusion injury.MTT,TUNEL and Viability/Cytotoxicity Assay were used to evaluate the effect of metformin on the viability of cardiomyocytes after treated with H2O2. The target of miR-1 was verified by Dual luciferase reporter assay. ChIP analyses was adopted to reveal the relationship between C/EBP β and miR-1.Tanshinone IIA was administrated daily for 7 d before ligation of the left anterior descending artery (LAD) and lasted for 3 months after LAD.Whole-cell patch-clamp techniques were used to measure the inward rectifying K+current(IK1)in rat isolated ventricular myocytes.GRP94,p-AMPKα,C/EBP β,CHOP,Caspase-3,Kir2.1,p38 MAPK, Cx43, MEF2 and SRF levels were analyzed by Western blot and miR-1 level was quantified by Real-time PCR.RESULTS The expression of miR-1 was significantly increased in NRVCs exposed to H2O2 in vitro. miR-1 was shown to target the 3′-untranslated region (UTR) of GRP94, which results in the accumulation of un/misfolded proteins,leading to the endoplasmic reticulum(ER)stress.C/EBP β directly induces the upregulation of miR-1 by binding to its promoter.Furthermore,metformin,a direct allosteric AMPK activator, significantly reduces C/EBP β and miR-1 levels comparing with control group. Similarly, tanshinone IIA decreased the incidence of arrhythmias and relieved ischemia-induced injury.Moreover, tanshinone IIA depressed the elevated miR-1 level and inhibited the activation of p38 MAPK and heart special transcription factors SRF and MEF2 in ischemic cardiomyocytes. CONCLUSION Metformin protects cardiomyocytes against H2O2damage through AMPK/C/EBPβ/miR-1/GRP94 pathway.Tanshi-none IIA play a role in protection cardiomyocytes from ischemic injury based on inhibiting miR-1 expres-sion through p38 MAPK signal pathway.

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Chin. med. j ; Chin. med. j;(24): 1491-1497, 2016.
Article in English | WPRIM | ID: wpr-290048

ABSTRACT

<p><b>OBJECTIVE</b>To systematically summary the updated results about the pathogenesis of Hirschsprung's-associated enterocolitis (HAEC). Besides, we discussed the research key and direction based on these results.</p><p><b>DATA SOURCES</b>Our data cited in this review were obtained mainly from PubMed from 1975 to 2015, with keywords "Hirschsprung enterocolitis", "Hirschsprung's enterocolitis", "Hirschsprung's-associated enterocolitis", "Hirschsprung-associated enterocolitis", "HAEC", and "EC".</p><p><b>STUDY SELECTION</b>Articles regarding the pathogenesis of HAEC were selected, and the articles mainly regarding the diagnosis, surgical approach, treatment, and follow-up were excluded.</p><p><b>RESULTS</b>Several factors, mainly including mucus barrier, intestinal microbiota, and immune function, as well as some other factors such as genetic variations and surgical reasons, have been found to be related to the pathogenesis of HAEC. Changed quantity and barrier property of mucus, different composition of microbiota, and an abnormal immune state work together or separately trigger HAEC.</p><p><b>CONCLUSIONS</b>The maintenance of intestinal homeostasis is due to a well cooperation of microbiota, mucus barrier, and immune system. If any part presents abnormal, intestinal homeostasis will be broken. Meanwhile, for patients with Hirschsprung's disease or HAEC, dysfunction of these parts has been found. Thus, the happening of HAEC may be mainly attributed to the disorders of intestinal microbiota, mucus barrier, and immune system.</p>


Subject(s)
Animals , Humans , Enterocolitis , Pathology , Hirschsprung Disease , Pathology , Intestines , Microbiology , Pathology
18.
Article in Chinese | WPRIM | ID: wpr-467822

ABSTRACT

Purpose To investigate the topological structure differences between the migraine patients group and the normal control group by using resting-state brain complex networks constructed based on graph theory. Materials and Methods Resting-state functional magnetic resonance imaging dataset were obtained from 22 migraine patients and 22 normal subjects. The functional complex networks of the two groups were constructed, and parameters including average clustering coefficient, characteristic path length, small worldness, assortativity, and betweenness of the two groups were respectively calculated. Results When compared with the parameters of normal control group, average clustering coefficient of migraine patients group was larger, small worldness and assortativity were also changed. The characteristic path length of the caudate nucleus and putamen areas presented abnormal in the migraine patients group. Betweenness centrality of the thalamus, inferior occipital gyrus and occipital gyrus increased in the migraine patients group. Conclusion The abnormal brain regions in the migraine patients group were mainly associated with pain processing, visual processing and sensory information relay. This study may contribute to better understanding and interpreting corresponding clinical condition of migraine.

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Chinese Journal of Epidemiology ; (12): 1143-1147, 2011.
Article in Chinese | WPRIM | ID: wpr-241164

ABSTRACT

Objective To investigate the correlation between IL-28B rs8099917 polymorphism and the outcome of HBV infection.Methods Genotype ofrs8099917(T>G) in IL-28B locus was determined by TaqMan SNP genotyping from 486 individuals which including 199 chronic HBV carriers (including 100 HBV-induced liver cirrhosis and 99 HBV-related HCC).143 people with selflimited infection and 144 healthy people served as controls.Multivariate analysis was used to assess the effect of IL-28B rs80999 1 7 SNP among all the studied groups.Results Distribution of genotype and allele of the rs8099917 locus were in accordance with Hardy-Weinberg equilibrium in different groups or with the total population.The frequencies of the rs8099917 TT,GT,GG genotypes were 89.3%,10.5% and 0.2%,and the frequency of allele T and G accounted for 94.5% and 5.5%,respectively.In respect of genotype or allele frequency,there was no significant differences found among the groups(P>0.05 ).When comparing with the TT genotype,data from the multinomial logistic analysis showed that the ORs and (95%CI) of TG/GG genotypes were 1.589 (0.735-3.437),1.351 (0.550-3.316) and 1.704 (0.717-4.052),respectively.The genotype frequencies in different groups with different clinical features showed that TG/GG genotypes significantly increased the risk of r-GT Ⅱ( + ) for individuals with HBV-related HCC (X2=17.534,P=0.001 ),with OR as 14.821 (3.227-68.064).It was particularly so for males(X2=14.924,P=0.014),with OR(95%CI) as 45.000(2.772-730.571 ).Conclusion IL-28B rs8099917 SNP had no correlation with the outcome of HBV infection.

20.
Article in Chinese | WPRIM | ID: wpr-576976

ABSTRACT

Objective To investigate whether calcitonin gene-related peptide(CGRP) can influence the proliferation and phenotypic modulation of vascular smooth muscle cells(VSMCs),and what is the relationship between them. Methods Vascular smooth muscle cells(VSMCs) were cultured respectively with rat aorta cultivated for 8 days in vitro and with normal aorta(not culture) through the explant-attached method,and CGRP was added into the culture medium of the experimental groups.The proliferation of cells was labeled by 5-bromodeoxyuridine(5-BrdU) with immunocytochemical method,and the mRNA expression of hypertension-related gene-1(HRG-1) and smooth muscle 22 alpha(SM22?) were determined by RT-PCR. Results The proliferating cells labeled by BrDU from the aorta cultured for 8 days in vitro were increased notablly and the mRNA expression of HRG-1 and SM22? were decreased.While the VSMCs were cultured in the culture medium containing CGRP,the proliferous cells labeled by BrdU were obviously decreased and the mRNA expression of HRG-1 and SM22? were significantly increased.Conclusion It is showed that CGRP could inhibit the proliferation of VSMCs and change the phenotype of VSMCs from synthesize to contractile type.It might be a good cellular model which provides a good experimental platform to research the proliferating vascular disease as well as its prevention and treatment.

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