Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

OBJECTIVE To investigate the polysomnographic differences between males and females with obstructive sleep apnea syndrome(OSAS).METHODS Adults visited to Beijing Tongren Hospital for sleep snoring from January 2023 to August 2023 who completed overnight polysomnography(PSG)and whose apnea hypopnea index(AHI)≥5 times/h were diagnosed as OSAS patients in this study.The general information,respiratory events and sleep structure were compared between male and female OSAS patients.RESULTS A total of 380 patients were included in this study with 293 males(77.1%)and 87 females(22.9%).Mean age was(44.4±11.5)years,and the mean body mass index was(26.5±3.9)kg/m2;AHI ranged between 5.0 and 115.8 times/h with a mean of(34.9±24.8)times/h;lowest oxygen saturation(LSpO2)ranged between 43%-97%with a mean of(80.7±11.6)%.Between male and female OSAS patients,the AHI in males was higher than females[(37.9±24.8)times/h vs.(24.5±21.7)times/h,P=0.000],and the AHI in REM was higher in males than females[(36.7±23.2)times/h vs.(30.9±22.8)times/h,P=0.040].LSpO2 was lower in males than females[(79.2±12.0)%vs.(85.7±8.3)%,P=0.000].There were significant differences for arousal index,sleep efficiency,N1 sleep percent and N3 sleep percent between two groups.Between male and female OSAS patients over 50 years old,AHI was still higher in males than in females[(39.3±21.4)times/h vs.(30.5±23.0)times/h,P=0.029],and there was no significant difference in AHIREM and LSpO2.The difference in sleep structure between male and female OSAS patients over 50 years old was consistent with that of participants.CONCLUSION The AHI and LSpO2 of male OSAS patients were more serious than those of female OSAS patients,and the reduction of slow wave sleep was more obvious.OSAS became worse after menopause,which was highlighted by the increase of respiratory events in REM and the more serious decline of LSpO2.The protective effect of female hormones on OSAS is mainly to alleviate REM respiratory events and hypoxia damage,rather than improving sleep structure.

Objective:To search, evaluate and integrate the best evidence of exercise rehabilitation intervention after PCI in patients with acute myocardial infarction, so as to provide evidence-based basis for clinical doctors and nurses to intervene in exercise rehabilitation of patients.Methods:We searched PubMed, China National Knowledge Infrastructure, Wanfang Data and other domestic and foreign databases, guide websites and professional association websites about the evidence of exercise rehabilitation intervention in patients with acute myocardial infarction after PCI. The search period is from January 2010 to June 2021. The quality of the included literature was evaluated by two researchers, and the literature evidence in accordance with the quality standard was extracted.Results:A total of 20 articles were included, and 39 pieces of evidence were summarized from 11 aspects, such as the establishment of multidisciplinary team, evaluation, exercise prescription, exercise monitoring and so on.Conclusions:This study summarized the best evidence of exercise rehabilitation intervention in patients with acute myocardial infarction after PCI, and provided theoretical support for clinical practice. It is suggested to combine the clinical situation and patients' wishes to promote the transformation of the best evidence to clinical practice.

Objective    To explore the application value of synchronous CT-guided percutaneous biopsy followed by radiofrequency ablation in the diagnosis and treatment of lung tumors. Methods    The clinical data of 21 patients with lung tumors were retrospectively analyzed. There were 8 males and 13 females aged 68 (51, 73) years. A total of 24 lesions underwent CT-guided percutaneous biopsy and concurrent radiofrequency ablation. The effectiveness and safety of this protocol were analyzed. Results    All 21 patients successfully completed the procedures. The diameter of 24 lesions was 17.0 (13.3, 19.0) mm. Biopsy specimens met the requirements of pathological diagnosis, and the effectiveness of specimens was 100.0%. The incidence of small amount of pneumothorax/pleural shrinkage after procedures was 19.0% (4/21) and the incidence of tension pneumothorax was 4.7% (1/21). There was no obvious bleeding or other complications. Conclusion    Synchronous CT-guided percutaneous biopsy followed by radiofrequency ablation combines two interventional techniques, which is safe and effective in the diagnosis and treatment of lung tumors, and it is worthy of popularization and application in clinic.

Objective:To report a Chinese family with a novel ABCD1 gene mutation at c.332T>G (p.V111G) site and discuss its clinical characteristics and molecular mechanism.Methods:The clinical data, laboratory examination, and imaging examination results were analyzed to make the clinical diagnosis of a middle-aged onset patient from the First Affiliated Hospital of Zhengzhou University in May 2017. High-throughput sequencing was used to discover a novel ABCD1 gene mutation. Sanger sequencing was used to find out whether other family members contain the same ABCD1 gene mutation. The pathogenicity of this mutation was explored by protein structure prediction and pathogenicity analysis. Adrenoleukodystrophy protein-green fluorescent protein (ALDP-GFP) and ALDP-GFP (V111G) plasmids were constructed and human embryonic kidney 293 cells were transfected, then immunofluorescence and Western blotting were used to explore the molecular mechanism of this mutation (completed in Henan Provincial People′s Hospital).Results:The proband (a 39-year-old male) was diagnosed as adrenomyeloneuropathy, a subset of X-linked adrenoleukodystrophy, with a novel heterozygous missense mutation in the ABCD1 gene at c.332T>G (p.V111G) site, and his mother and two daughters were all carriers. Protein structure prediction and pathogenicity results suggested that this mutation is pathogenic. Overexpression of ALDP-GFP (V111G) in the human embryonic kidney 293 cells resulted in a significant decrease in the expression levels of ALDP and the abnormal localization from the peroxisomal membrane to the cytoplasm, accompanied by significant down-regulation of LC3-Ⅱ/LC3-Ⅰ and beclin-1.Conclusion:c.332T>G (p.V111G) is a novel pathogenic mutation in the ABCD1 gene, which causes adrenomyeloneuropathy by impairing autophagy.

Objective:To analyze the status and its influencing factors of job burnout among female workers of labor-intensive enterprises.Methods:A total of 750 female workers from 5 labor-intensive enterprises in Guangdong Province were selected as the study subjects by random cluster sampling method in August, 2019. 665 valid questionnaires were collected, and the effective recovery rate was 88.67%. The Maslach Burnout Inventory-General Survey was used to assess job burnout and its influencing factors were analyzed.Results:Among 665 female workers, 429 (64.51%) found to have different levels of burnout, among which 380 (57.14%) were mild to moderate burnout and 49 (7.37%) were severe burnout. The comprehensive scores of job burnout in different age, marital status, current post working age, working time per week, personal monthly income, working system and occupational stress groups were statistically significant ( P<0.01) . There were significant differences in the score of emotional exhaustion in different age, marital status, current working age, working time per week, personal monthly income and occupational stress groups ( P<0.05) . There were significant differences in the dimensions of depersonalization in different age, weekly work time, personal monthly income, working system and occupational stress groups ( P<0.05) . There were significant differences in the dimensions of low individual achievement in different education levels, weekly work time, working system and occupational stress groups ( P<0.05) . Conclusion:The female workers of labor-intensive enterprises are generally have mild to moderate job burnout. The main influencing factors of job burnout are weekly work time and occupational stress.

Objective:To investigate the value of 18F-fluorodeoxy glucose ( 18F-FDG) positron emission tomography/computed tomography (PET-CT) in predicting the epidermal growth factor receptor (EGFR) mutations in patients with lung squamous cell carcinoma. Methods:We retrospectively analyzed the clinical data and 18F-FDG PET-CT imaging data of 206 patients with lung squamous cell carcinoma confirmed by pathology and underwent EGFR mutation test in the First Affiliated Hospital of Nanjing Medical University from June 2013 to October 2018. Receiver operating characteristic (ROC) curve analysis was performed to quantify the predictive value of maximum standard uptake value (SUV max), metabolic tumor volume (MTV), total lesion glycolysis (TLG). The Chi- squared test was used to assess the difference in PET parameters. A multivariate Logistic regression analysis was performed to yield the parameters with statistic difference. Results:All of 206 patients with lung squamous cell carcinoma showed a high 18F-FDG uptake. The median of SUV max, MTV and TLG were 19.14, 37.69 cm 3 and 291.73, respectively. Among the 206 patients, EGFR mutations were identified in 14 cases, including 7 with exon 21 (L858R) mutation, 6 with exon 19 mutation and 1 with exon 20 mutation. ROC curve showed that the AUC of SUV max, MTV and TLG were 0.624 (95% CI=0.454-0.794, P=0.122), 0.892 (95% CI=0.811-0.973, P<0.001) and 0.860 (95% CI=0.768-0.952, P<0.001), respectively. The median SUV max (19.14) was used as the cutoff points due to the small value of AUC. The cutoff point of MTV was 20.09 cm 3, the cutoff point of TLG was 211.07. Univariate analysis showed that the sex, smoking history, M stage, MTV and TLG were associated with EGFR mutations (all P<0.05). Logistic multivariate analysis showed that the sex, smoking history and TLG were the independent predictors of EGFR mutation (all P<0.05). Conclusion:TLG detected by 18F-FDG PET/CT is an independent factor for predicting EGFR mutation in patients with lung squamous cell carcinoma, and has certain reference value for predicting EGFR mutation.

Objective:To investigate the value of 18F-fluorodeoxy glucose ( 18F-FDG) positron emission tomography/computed tomography (PET-CT) in predicting the epidermal growth factor receptor (EGFR) mutations in patients with lung squamous cell carcinoma. Methods:We retrospectively analyzed the clinical data and 18F-FDG PET-CT imaging data of 206 patients with lung squamous cell carcinoma confirmed by pathology and underwent EGFR mutation test in the First Affiliated Hospital of Nanjing Medical University from June 2013 to October 2018. Receiver operating characteristic (ROC) curve analysis was performed to quantify the predictive value of maximum standard uptake value (SUV max), metabolic tumor volume (MTV), total lesion glycolysis (TLG). The Chi- squared test was used to assess the difference in PET parameters. A multivariate Logistic regression analysis was performed to yield the parameters with statistic difference. Results:All of 206 patients with lung squamous cell carcinoma showed a high 18F-FDG uptake. The median of SUV max, MTV and TLG were 19.14, 37.69 cm 3 and 291.73, respectively. Among the 206 patients, EGFR mutations were identified in 14 cases, including 7 with exon 21 (L858R) mutation, 6 with exon 19 mutation and 1 with exon 20 mutation. ROC curve showed that the AUC of SUV max, MTV and TLG were 0.624 (95% CI=0.454-0.794, P=0.122), 0.892 (95% CI=0.811-0.973, P<0.001) and 0.860 (95% CI=0.768-0.952, P<0.001), respectively. The median SUV max (19.14) was used as the cutoff points due to the small value of AUC. The cutoff point of MTV was 20.09 cm 3, the cutoff point of TLG was 211.07. Univariate analysis showed that the sex, smoking history, M stage, MTV and TLG were associated with EGFR mutations (all P<0.05). Logistic multivariate analysis showed that the sex, smoking history and TLG were the independent predictors of EGFR mutation (all P<0.05). Conclusion:TLG detected by 18F-FDG PET/CT is an independent factor for predicting EGFR mutation in patients with lung squamous cell carcinoma, and has certain reference value for predicting EGFR mutation.

Objective:To analyze the status and its influencing factors of job burnout among female workers of labor-intensive enterprises.Methods:A total of 750 female workers from 5 labor-intensive enterprises in Guangdong Province were selected as the study subjects by random cluster sampling method in August, 2019. 665 valid questionnaires were collected, and the effective recovery rate was 88.67%. The Maslach Burnout Inventory-General Survey was used to assess job burnout and its influencing factors were analyzed.Results:Among 665 female workers, 429 (64.51%) found to have different levels of burnout, among which 380 (57.14%) were mild to moderate burnout and 49 (7.37%) were severe burnout. The comprehensive scores of job burnout in different age, marital status, current post working age, working time per week, personal monthly income, working system and occupational stress groups were statistically significant ( P<0.01) . There were significant differences in the score of emotional exhaustion in different age, marital status, current working age, working time per week, personal monthly income and occupational stress groups ( P<0.05) . There were significant differences in the dimensions of depersonalization in different age, weekly work time, personal monthly income, working system and occupational stress groups ( P<0.05) . There were significant differences in the dimensions of low individual achievement in different education levels, weekly work time, working system and occupational stress groups ( P<0.05) . Conclusion:The female workers of labor-intensive enterprises are generally have mild to moderate job burnout. The main influencing factors of job burnout are weekly work time and occupational stress.

Pancreatic ductal adenocarcinoma (PDAC) is one of the most intractable malignancy, with an only 6% 5-year relative survival rate. The dismal therapeutic effect is attributed to the chemotherapy resistance and unique pathophysiology with abundant inflammatory cytokines and abnormal hyperplasia of extracellular matrix (ECM). Based on the theory that bone marrow mesenchymal stem cells (BM-MSCs) can influence the tumorous microenvironment and malignant growth of PDAC, we employed exosomes (Exos) derived from BM-MSCs as PDAC-homing vehicles to surpass the restrictions of pathological ECM and increase the accumulation of therapeutics in tumor site. To overcome chemoresistance of PDAC, paclitaxel (PTX) and gemcitabine monophosphate (GEMP)-an intermediate product of gemcitabine metabolism-were loaded in/on the purified Exos. In this work, the Exo delivery platform showed superiorities in homing and penetrating abilities, which were performed on tumor spheroids and PDAC orthotopic models. Meanwhile, the favorable anti-tumor efficacy and , plus relatively mild systemic toxicity, was found. Loading GEMP and PTX, benefitting from the naturally PDAC selectivity, the Exo platform we constructed performs combined functions on excellent penetrating, anti-matrix and overcoming chemoresistance (Scheme 1). Worth expectantly, the Exo platform may provide a prospective approach for targeted therapies of PDAC.