Objective To explore the clinical and genetic characteristics of 17α-hydroxylase/17,20-lyase deficiency(17OHD)in childhood.Methods The clinical features,laboratory and imaging examination results,gene mutation characteristics of 4 children diagnosed with 17OHD in Children's Hospital Affiliated to Zhengzhou University from January 2016 to December 2022 were retrospectively analyzed,and the literature was reviewed and summarized.Results At the time of diagnosis,the age of 4 children ranged from 11 months and 21 days to 10 years and 6 months.All patients had karyotypes of 46,XY.Social gender:1 male and 3 females.The chief complaints were 1 case of short penis,1 case of inguinal mass,and 2 cases of grade 2 hypertension,and 3 cases of testes were found in scrotum,groin and inguinal annulus,respectively.The levels of cortisol,testosterone,and androstenedione decreased at 8 o'clock in 4 children,while the levels of adrenocorticotropic hormone,progesterone,luteinizing hormone,and follicle stimulating hormone increased.17 hydroxyprogesterone was normal.Mild decrease in blood potassium levels(3.44-3.48 mmol/L)was found in 3 cases.One case of CYP17A1 homozygous mutation and three cases of compound heterozygous mutation were found,among which c.563 A＞G and c.436+1G＞T were new mutation sites that had not been reported in the past,and 3 cases had c.985_987delinsAA mutation.All 4 cases received oral hydrocortisone treatment.Conclusions Abnormal external genitalia,inguinal/labial mass and hypertension are the main features of 46,XY type 17OHD in childhood.Early hydrocortisone replacement therapy can effectively prevent the complications of 17OHD.The CYP17A1 c.985_987delinsAA mutation may be a hot topic mutation in children with 17OHD in China.

Objective:To explore the clinical and genetic characteristics of three children with Leguis syndrome.Methods:Three children suspected as Legius syndrome at the Henan Children′s Hospital for precocious puberty or short stature from June 6, 2019 to August 25, 2022 were selected as the study subjects. Clinical data of the children were collected. All children were subjected to whole exome sequencing, and candidate variants were verified by Sanger sequencing.Results:All of the children (including 2 females and 1 male, and aged 4 years and 6 months, 8 years, and 14 years and 8 months, respectively) had typical café de lait spots. Child 1 also had precocious puberty, and children 2 and 3 had short statures. Genetic testing revealed that all of them had harbored heterozygous variants of the SPRED1 gene, including c. 751C>T (p.Arg251Ter194) in child 1, c. 229A>T (p.Lys77Ter368) in child 2, and c. 1044_1046delinsC (p.R349fs *11) in child 3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 751C>T (p.Arg251Ter194) variant was predicted to be likely pathogenic, whilst the other two were known pathogenic variants. Conclusion:All of the three children were diagnosed with Leguis syndrome due to variants of the SPRED1 gene, which had manifested as multiple café de lait spots in conjunct with precocious puberty or short statures.

Objective:To retrospectively analyze a pediatric case of X-linked hypophosphatemic rickets treated with Burosumab and improve clinicians′ awareness of the safety and effectiveness of the drug.Methods:Clinical data of the child were collected. Whole-exon genetic testing after parental consent confirmed X-linked hypophosphatemic rickets. During 18 months of Burosumab treatment, fasting blood phosphorus, alkaline phosphate, calcium, and calcium phosphate product were monitored every 11-14 days. Parathyroid hormone and 25 hydroxyvitamin D were checked every 2-6 weeks, while knee spacing, liver and kidney function, urinary calcium creatinine ratio, electrocardiogram were assessed every 3 months. Radiological imaging was performed every 6 months, with continuous follow-up of the child.Results:Whole-exon sequencing results showed a c. 1080_1081insCAATGTTA(p.T361Qfs*3) spontaneous heterozygous frameshift mutation in the PHEX gene in the child, which has not been reported previously. After the patient was treated with Burosumab for 18 months, the biochemical indexes were significantly improved, and the rickets score was reduced, without gingival abscess or other adverse events.Conclusion:The variant c. 1080_1081insCAATGTTA(p.T361Qfs*3) in the PHEX gene was identified as the cause of the patient′s condition. Burosumab, as a targeted therapeutic agent for X-linked hypophosphatemic rickets, showed significant treatment efficacy.

Objective To explore the application of diagnostic system with artificial intelligence(AI)in the evaluation of patients with coronary heart disease(CHD)at high altitude.Methods A total of 318 pa-tients underwent coronary CT angiography(CTA)at the hospital from January to December 2022 were pro-spectively collected.According to the altitude gradient,the patients were divided into the 2 000-3 000 m group and>3 000 m group.Coronary angiography(CAG)was used as the gold standard to verify the diag-nostic performance of AI diagnostic system.Coronary artery diagnosis system with AI technology and CT de-rived fractional flow reserve(CT-FFR)measurement system were used to evaluate the plaque structure char-acteristics and hemodynamic changes in the two groups of patients.Results Calcified plaques and vulnerable plaques in the>3 000 m group were more than those in the 2 000-3 000 m group(χ2=3.976,6.482,P= 0.046,0.011).The incidence of multi-vessel coronary artery disease,moderate stenosis,severe stenosis and complete occlusion in the>3 000 m group was higher than that in the 2 000-3 000 m group,and the inci-dence of single-vessel coronary artery disease and mild stenosis in the 2 000-3 000 m group was higher than that in the>3 000 m group(P<0.05).The incidence of CT-FFR≤0.80 and<0.70 in the>3 000 m group was higher than that in the 2 000-3 000 m group(χ2=4.782,28.118,P=0.029,<0.001).The comparison with the gold standard showed that this method has high sensitivity,specificity,and diagnostic consistency(P<0.001).Conclusion The coronary diagnosis system with AI technology has certain value in the system-atic evaluation of coronary artery characteristics and hemodynamic changes in CHD patients at high altitude.

Objective:To analyze the status quo of type D personality, intolerance of uncertainty and family support in first-episode stroke patients, and to explore the mediating role of family support between type D personality and intolerance of uncertainty in first-episode stroke patients, in order to provide reference for formulating relevant clinical intervention measures to promote the physical and mental health of first-episode stroke patients.Methods:This study was a cross-sectional investigation. A total of 300 patients with acute first-episode stroke who met the inclusion and exclusion criteria in the Department of Neurology of the General Hospital of Ningxia Medical University and the First People′s Hospital of Yinchuan from May 2023 to September 2023 were selected as the study objects by convenience sampling method. The general data questionnaire, Type D personality Scale-14, Family Caring Index Scale and the Intolerance of Uncertainty Scale were used to investigate them. Pearson correlation analysis was used to test the correlation between variables, and SPSS plug-in PROCESS 3.5 was used to test the mediation effect.Results:Finally, 300 questionnaires were effectively collected, including 228 males and 72 females. Patients aged ≥ 60 years old were the majority, accounting for 49.3% (148/300). The detection rate of type D personality in the first stroke patients was 37.3% (112/300), and the total score of Type D personality inventory, family support and intolerance of uncertainty of type D personality in the first stroke patients were (22.16 ± 9.95), (6.40 ± 2.23), (27.82 ± 7.93) points. The correlation analysis results showed that the intolerance of uncertainty of type D personality in the first stroke patients was positively correlated with type D personality scores ( r=0.675, P<0.001). There was a negative correlation with family support score ( r=-0.644, P<0.001). The results of mediating effect analysis showed that family support played a partial mediating role in the relationship between type D personality and intolerability of uncertainty in first-stroke patients, and the mediating effect accounted for 34.94% of the total effect. Conclusions:The mediating role of family support between type D personality and intolerability of uncertainty in first-stroke patients is established. In the future, the level of family support of patients can be continuously improved to reduce their intolerability of uncertainty, so as to promote the physical and mental health of patients and improve their quality of life.

Objective·To establish a patient-derived tumor xenograft(PDX)model using tumor cells sourced from malignant pleural effusion(MPE)in patients with lung cancer,and to conduct experimental validation.Methods·Gene expression data were downloaded from the Gene Expression Omnibus(GEO),including single-cell RNA sequencing data for lung cancer with MPE(GSE131907)and for solid lung cancer(GSE203360).Data were clustered,and differential gene ontology functional enrichment analysis was performed to ascertain the feasibility of modeling by using MPE.MPE samples from patients with lung cancer were collected and processed through centrifugation and red blood cell lysis to enrich cells.The enriched cells were then implanted subcutaneously into non-obese diabetic/severe combined immunodeficient(NOD/SCID)mice.Tumor growth was monitored,and when tumors reached 1 000 mm3,they were passaged and preserved.Histopathological examination was conducted on stable passaged tumors,the cell morphology was observed via hematoxylin-eosin(H-E)staining and the expression of lung cancer biomarkers was detected by using immunohistochemistry(IHC).Results·Single-cell data analysis revealed stronger proliferative functions of tumor cells in MPE,suggesting that PDX modeling using MPE tumor cells may yield better tumor formation.A total of 35 samples of MPE from lung cancer patients were collected,and 13 PDX models were successfully constructed,with a success rate of 37.14％.Histopathological examination showed significant cellular atypia by H-E staining,and IHC result showed positive expression of lung cancer biomarkers such as cytokeratin 7(CK7),thyroid transcription factor-1(TTF1),and Napsin A.Conclusion·By enriching tumor cells from MPE of lung cancer patients,a more convenient,efficient,and dynamically modelable PDX model is successfully constructed.This model retains the malignant characteristics and protein expression features of tumor cells from lung cancer patients,providing an important experimental model tool for basic research and clinical drug guidance for lung cancer patients with MPE.

Objective:To explore the current situation and influencing factors of burnout among the primary caregivers of stroke patients, so as provide a basis for clinical intervention measures.Methods:From July 2022 to January 2023, convenience sampling was used to select 506 caregivers of stroke patients who met the inclusion and exclusion criteria from Yinchuan Rehabilitation Hospital and Wuzhong Rehabilitation Hospital as the study subject. The survey was conducted using the General Information Questionnaire, Burnout Scale of Stroke Patients' Caregiver, Multidimensional Scale of Perceived Social Support, Trait Coping Style Questionnaire, and Hospital Anxiety and Depression Scale.Results:The burnout score of caregivers for stroke patients was (72.83±14.32). Multiple linear regression analysis showed that the educational level and self-care ability of patients, social support, coping styles, and depression of primary caregivers were the influencing factors of burnout among primary caregivers in stroke patients ( P<0.05) . Conclusions:Attention should be paid to the burnout of the primary caregivers of stroke patients. Medical and nursing staff should focus on the primary caregivers who care for patients with low educational level and poor self-care ability, and improve their social support, encourage them to actively respond, relieve their depression, to alleviate their burnout.

This paper reviewed the mental health status, influencing factors, and intervention measures of the main caregivers of stroke patients both domestically and internationally, so as to provide reference for clinical work and research.

Objective:To explore the current situation of resourcefulness among the primary caregivers of stroke patients and analyze its influencing factors.Methods:From December 2020 to August 2021, convenience sampling was used to select 311 primary caregivers of stroke patients in the Neurology Department of three ClassⅢ Grade A general hospitals in Yinchuan City as the research subject. A survey was conducted using the General Information Questionnaire, Resourcefulness Scale, Self-Rating Depression Scale, Chinese Perceived Stress Scale, Social Support Revalued Scale, and the Fatigue Scale-14.Results:A total of 311 questionnaires were distributed and 308 valid questionnaires were collected, with a valid response rate of 99.04%. The resourcefulness score of the primary caregivers of 308 stroke patients was (83.98±12.85). The random forest model showed that when the λ-value was 1.667, the error was the smallest, and the corresponding number of influencing factors was 7. The independent variables ranked in the top 7 in importance were included in multiple stepwise regression. Multiple stepwise regression analysis showed that perceived stress, educational level, and fatigue were the main influencing factors on the resourcefulness of the primary caregivers of stroke patients, and the differences were statistically significant ( P<0.05) . Conclusions:The main caregivers of stroke patients have a moderate level of resourcefulness and require certain attention. Nursing staff can collaborate with social workers and other personnel to provide support and assistance to caregivers, alleviate their physical and mental stress, thereby improving their resourcefulness and the quality of care.

Objective:To explore the impact of type D personality on quality of life in lung cancer patients and the mediating role of stigma between type D personality and quality of life.Methods:From February 2021 to August 2022, convenience sampling was used to select 334 lung cancer patients from three ClassⅢ Grade A hospitals in Taizhou City, Zhejiang Province as participants. The patients were surveyed using the General Information Questionnaire, Type D Personality Scale-14, Functional Assessment of Cancer Therapy Scale General (FACT-G), and Cataldo Lung Cancer Stigma Scale. Pearson correlation was used to analyze the correlation between type D personality, quality of life, and stigma. Model 4 in the SPSS 24.1 macro program PROCESS was used for mediating effect analysis. A total of 334 questionnaires were distributed, and 332 valid questionnaires were collected, with a valid response rate of 99.40% (332/334) .Results:The FACT-G total score of 332 lung cancer patients was (75.84±7.27). The positive rate of type D personality was 19.28% (64/332). The total score of quality of life, social/family status, functional status, emotional status, and physiological status dimension scores in patients with type D personality lung cancer were lower than those in non-type D personality patients, and the difference was statistically significant ( P<0.05). There were negative correlations between type D personality and quality of life, and between stigma and quality of life in lung cancer patients ( P<0.01), and a positive correlation between type D personality and stigma ( P<0.01). Mediating effect analysis showed that type D personality directly negatively predicted quality of life, and stigma played a partial mediating effect between type D personality and quality of life, with a mediating effect value of 0.189, accounting for 23.05% of the total effect. Conclusions:The type D personality of lung cancer patients directly affects their quality of life, and the stigma plays a partial mediating role between type D personality and quality of life, thereby indirectly affecting quality of life. In addition to providing personalized psychological support, patients with type D personality should also pay attention to their stigma to reduce potential negative effects on their quality of life.