ObjectiveTo evaluate the reliability and validity of the Dampness Syndrome Scale of Chinese Medicine （DSSCM） among patients with persistent asthma， and to explore the correlation between dampness syndrome and clinical characteristics of persistent asthma. MethodsA cross-sectional survey was conducted. Basic information， examination results， DSSCM， Asthma Control Test （ACT）， Generalized Anxiety Disorder-7 （GAD-7）， and Patient Health Questionnaire-9 （PHQ-9） scores were collected from 206 patients with persistent asthma to evaluate the reliability and validity of DSSCM and to explore the correlation between dampness syndrome and clinical characteristics. ResultsThe mean score of DSSCM among 206 patients was 14.59 ± 10.53. The overall Cronbach α coefficient and Spearman-Brown split-half reliability coefficient of the scale were both greater than 0.8， and the success rate of scale convergent and discriminant validity calibration were greater than 80%. The confirmatory factor analysis showed that the χ²/df was 2.309， and the root mean square error of approximation （RMSEA） was 0.08； the root mean square residual （RMR） was 0.049， whereas the comparative fit index （CFI）， the goodness of fit index （GFI）， the adjusted goodness of fit index （AGFI）， the normed fit index （NFI） and the incremental fit index （IFI） were less than 0.9. Correlation analysis showed that DSSCM scores were positively correlated with disease duration， GAD-7 scores， and PHQ-9 scores （P＜0.05）， and negatively correlated with ACT scores （P＜0.01）. The DSSCM scores were significantly different between patients with different disease severity （H = 10.92， P = 0.01）， and the DSSCM scores of allergic patients were higher than those of non-allergic patients （Z = -4.19， P＜0.001）. ConclusionDSSCM has acceptable reliability and validity for patients with persistent asthma. The scores of DSSCM correlated with the disease duration， ACT score， GAD-7 score， PHQ-9 score， disease severity and allergic status of persistent asthmatics.

Objective:To investigate the clinical characteristics of psoriasis and status quo of medical care for patients in county areas of China.Methods:This study was a cross-sectional investigation. Based on the “Qianxian Wuyin” Project (a national project for upgrating ability for psoriasis care at county level), an online questionnaire survey was conducted in the dermatology departments of 459 county hospitals in 404 pilot administrative counties across China from February to June 2023. The questionnaire included demographic information of patients (gender, ethnicity, age, place of residence, education, marital status), and clinical characteristics of psoriasis (disease course, type, comorbidities, body surface area (BSA) and previous treatment. The Dermatology Life Quality Index (DLQI) and Psoriasis Area and Severity Index (PASI) were applied for assessing the quality of life and disease severity, and completed by patients or guardian and doctors, respectively.Results:A total of 16 935 patients completed the questionnaire. The age of patients was 1-102(44.17±11.58)years, and 71.0% (12 036/16 935) were 30-59 years old. The ratio of male to female was 2.21∶1; 24.3%(4 117/16 935) of patients had high school education; there were 9 940 patients(58.7%) with previous or current smoking and/or alcohol use; 42.8%(7 218/16 855) of patients had a disease course of 1-5 years. There were 15 630 patients(92.3%) with DLQI≥10, 8 346 patients(49.7%) with PASI≥10, 15 017 patients(89.2%) with BSA≥10%. The plaque type was the most common disease type ( n=14 965, 88.7%), and spotting type ranked the second ( n=1 141, 6.8%). The most common initial site was the trunk ( n=12 309, 72.9%). Among the comorbidities, hypertension was the most common one ( n=1 681, 10.0%). There were 7 650 reports of treatment response to conventional topical drug therapy and 3 112 reports of treatment response to systemic drug therapy, with 6 269 (81.9%) and 2 493 (80.1%) reporting poor or no response, respectively. Conclusions:The survey shows that in the county areas of China, the majority of psoriasis patients are severe patients with short course of disease, plaque type is the most common type, and hypertension is the most common comorbidity; and the conventional treatment is less effective for most patients.

Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases to identify causative genes. Mutation analysis revealed compound heterozygous mutations of c.746A>G(from the mother) and exon12 deletion(from the father)in CERS3 were detected in the proband, which were verified by Sanger sequencing and co-segregated with the ichthyosis phenotype in the proband and her parents. These mutations were both reported for the first time. For the treatment, the proband received an oral acitretin capsules of 20 mg once daily. After 3-month follow up, the patient's lesion improved significantly.

Objective:To detect causative gene mutations in 1 patient with ADULT syndrome mainly presenting with ectodermal dysplasia.Methods:Clinical data were collected from a proband with ADULT syndrome, and genomic DNA was extracted from peripheral blood samples obtained from the proband and his parents. Exome sequencing was performed in the proband by using targeted panels for hereditary skin diseases to determine mutation sites, and then the candidate mutation sites were verified by Sanger sequencing in the family members.Results:The 22-year-old male patient presented with sparse and thin hair, scattered facial freckles, missing permanent teeth, cloudy corneas, palmoplantar erythema and keratosis, nail/toenail dystrophy, and nipple dysplasia. Genetic testing of the peripheral blood genomic DNA of the proband revealed a heterozygous mutation (c.1040G>T) in exon 8 of the TP63 gene, resulting in an amino acid change at position 347 (p.C347F) . The mutation was not detected in his father or mother with normal phenotypes, suggesting the cosegregation of the gene mutation with the disease phenotype in the family.Conclusion:The de novo heterozygous missense mutation in the TP63 gene may be the causative mutation in the proband, and combined with clinical manifestations, the proband was diagnosed with ADULT syndrome without finger/toe deformities.

Objective:To detect gene mutations and make a diagnosis in a family with ichthyosis accompanied by liver injury.Methods:Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples from the proband and his parents. Exome sequencing was performed in the proband by using a gene panel targeting hereditary skin diseases to identify mutation sites, and then the candidate mutation site was verified by PCR and Sanger sequencing in the family members. Results of peripheral blood smear examination and other auxiliary examinations were collected from the proband and his parents and analyzed.Results:The proband presented with generalized dry skin and tiny white scales on the lower limbs, accompanied by elevated transaminase levels, mild sensorineural hearing loss in both ears and fatty liver. Exome sequencing revealed a homozygous mutation c.933dupA in exon 6 of the ABHD5 gene encoding CGI-58 protein in the peripheral blood genomic DNA of the proband, resulting in a frameshift mutation p.R312Tfs*45 in the amino acid sequence. Heterozygous mutations at this site were identified in his father and mother. The mutation cosegregated with the disease phenotype in the family. The peripheral blood smear examination of the proband showed lipid vacuoles in neutrophils, which were called Jordan anomaly. Conclusion:The diagnosis of Chanarin-Dorfman syndrome was made in the proband based on the presentation of ichthyosis-like skin lesions and abnormal liver function, as well as the homozygous mutation in the ABHD5 gene and Jordan anomaly in peripheral blood smears.

Immune checkpoint inhibitors (ICIs) have become an important treatment option for many patients with malignant melanoma in the past few years. ICIs can restore and promote the function of effector T cells to specifically recognize and kill tumor cells, and systemically enhance anti-tumor immune response of the body, so they are a good treatment option for patients who have a high risk of recurrence after surgery or are at an advanced stage of disease (unresectable or metastatic melanoma). The main targets of current ICIs are programmed cell death-1 receptor and cytotoxic T lymphocyte-associated antigen 4, which are two key receptors for central and peripheral immune tolerance respectively. This review mainly discusses clinical efficacy of different ICIs, potential biomarkers for predicting response to ICIs and ICI-related adverse reactions.

From 1987 to 2017, cardiovascular disease (CVD) had been ranking the first cause of death in Suzhou, and the mortality rate showed an upward trend annual percentage changes (APC=0.62%, P=0.001), while the standardized mortality rate showed a downward trend (APC=-2.65%, P<0.001). The probability of premature death of CVD declined consistently from 7.06% in 1987 to 2.00% in 2017 (APC=-4.45%, P<0.001). When the life expectancy was set at 70, the potential years of life lost rate (PYLLR) decreased from 6.35‰ in 1987 to 3.30‰ in 2017, and the standardized PYLLR decreased from 7.30‰ to 2.68‰. When the life expectancy was set at 75, the PYLLR decreased from 10.12‰ to 5.19‰, and the standardized PYLLR decreased from 11.44‰ to 3.88‰. With the increase of years, all PYLLR and standardized PYLLR showed a significantly downward trend (APC=-2.51%--3.89%, P<0.001).

Objective To explore the clinical value of post mastoid transverse incision in keyhole microvascular decompression (MVD) for cranial neuropathy.Methods Fifty-eight patients with trigeminal neuralgia,hemifacial spasm or glossopharyngeal neuralgia,admitted to and accepted postmastoid transverse incision keyhole surgery in our hospital from October 2015 to October 2017,were chosen.Their clinical data and efficacy were retrospectively analyzed.Results Lesions of cranial nerves in all 58 patients were exposed satisfactorily (trigeminal nerve,facial nerve,or glossopharyngeal nerve).Postoperative complications included severe facial numbness in one patient,scalp hydrops in one patient,ear discomfort in two patients,and hearing loss in two patients.No cerebrospinal fluid leakage or intracranial infection,no facial paralysis or ear deafness,no hoarseness or drinking cough,and no intracranial hemorrhage or death were observed.All patients were followed up for 3-24 months,enjoying total effective rate of 98.3％ (57/58);and no recurrence or aggravation was noted.Conclusion MVD of post mastoid transverse incision in keyhole is a safe and effective surgical method for treatment of cranial nerve disorders;the steps of craniotomy and craniotomy in this method are simple,easy accessed,and fully neurologically exposed,having high surgical safety and good postoperative cosmetic results,which is worth of promoting application.

Objective To explore the relationship between sleep status and the risk of diabetes in adults.Methods The baseline data of 53 260 subjects who were aged 30-79 years and had been enrolled into China Kadoorie Biobank (CKB) study from Suzhou,Jiangsu province were analyzed.Multiple logistic regression models were used to investigate the association between sleep status and diabetes after adjusting for potential confounders.Results Among 53 260 subjects,5.3％ had diabetes.The proportions of difficultly falling asleep,early morning arousal and snoring frequently was 7.2％,10.0％ and 29.5％,respectively.There were 22.6％ of subjects reporting sleep duration ≤6 hours.After controlling for possible confounders,the subjects with difficulty falling sleep (OR=1.63 for male,95％ CI:1.30-2.05;OR=1.48 for female,95％ CI:1.27-1.73),early morning arousal (OR=1.37 for male,95％CI:1.12-1.68;OR=1.31 for female,95％CI:1.14-1.51) or snoring frequently (OR=1.16 for male,95％CI:1.00-1.34;OR=1.39 for female,95％CI:1.23-1.57) had a higher risk of diabetes.Using hypnotics regularly was associated with the risk of diabetes in females (OR=1.42,95％CI:1.06-1.92).Compared with 8 hours sleep duration daily,shorter sleep duration (≤ 6 hours) was associated with risk of diabetes in both males (OR=1.37,95％CI:1.17-1.60) and females (OR=1.24,95％ CI:1.08-1.41).No statistical significant association was found between longer sleep duration (≥9 hours) and the risk of diabetes.Conclusion Sleep problems,including difficulty falling asleep,early morning arousal,snoring frequently and shorter sleep duration,were associated with the risk of diabetes,but no statistical significant association was observed between longer sleep duration and the risk of diabetes.

Objective To study the effect of heterozygous deficiency of SGT gene on the hematological and biochemical parameters of mice in young and elderly ages.Methods Blood samples were analyzed for complete hematological and biochemical parameters from heterozygous SGT-deficient and wild-type mice of 10-weeks and 6-months old mice, respectively.Results Age-related changes in most indexes were found statistically significantly different between young and elderly mice with the same genotype.Compared with the wild type at the same age, the platelet large cell ratio (P-LCR) was lower in young heterozygous SGT-deficient mice.However, platelet count, plateletcrit (PCT) and neutrophil count were more significantly lower in elderly heterozygous SGT-deficient mice (P<0.05).There was no significant difference for biochemical parameters ALT, AST, LDH, urea nitrogen, creatinine and blood glucose.Total and unconjugated bilirubin as well as ALP were significantly higher in elderly heterozygous SGT-deficient mice but not for conjugated bilirubin (P<0.05).In addition, significant differences existed for the lipids between two elderly groups (P<0.05).Conclusions Heterozygous deficiency of SGT gene induced changes of some hematological and biochemical parameters in elderly mice.It provides helpful information for further investigation on SGT involvement in some biological and pathological processes.