Objective:To discuss the clinical characteristics,diagnosis,and treatment of Shwachman-Diamond syndrome(SDS),and to enhance the clinicians'awareness of the disease.Methods:The clinical materials of one patient diagnosed with SDS,primarily presented with neutropenia and elevated transaminase levels,confirmed by genetic testing were retrospectively analyzed.The clinical manifestations,genetic features,diagnosis,and treatment methods of SDS were analyzed complemented with the relevant literatures.Results:This patient was a male child,aged 27 months.His initial clinical presentations were neutropenia and elevated transaminase levels.The patient had previously experienced diarrhea when the patient was 3 months old,which improved after treated with oral pancreatic enzyme dispersion.Over the past six months,the patient had recurrent respiratory infections.Upon admission,the examination results showed there was dental enamel hypoplasia,and the imaging results showed the abnormal bone density in the long bones of the limbs.The genetic sequencing results showed a homozygous mutation in the Shwachman-Bodian-Diamond syndrome(SBDS)gene(c.258+2T>C).During hospitalization,the patient received the hepatoprotective care and granulocyte augmentation supportive treatment,leading to an improvement in his condition,and the patient was discharged.During a one-year follow-up,the patient's condition was stable.Conclusion:The typical presentation of the SDS patient includes diarrhea,liver function abnormalities,hematologic abnormalities,and skeletal anomalies,particularly neutropenia;there may also be developmental delays and involvement of the heart,liver,central nervous system,skeleton,and immune system.The genetic testing of suspected children is crucial,and it can aid in the early diagnosis and treatment of SDS patients.

Under the backdrop of smart health management technology development, this article reviews research advances in smart monitoring, assessment and intervention technologies for older people with mild cognitive impairment, including the types, typical applications and results of monitoring, assessment and intervention technologies.In addition, from the perspective of community-dwelling older adults' cognitive health management, a model for innovative management of community-dwelling older adults' cognitive function taking advantage of smart health management technologies is proposed, aiming to enhance the acceptance of smart health technologies among older people with cognitive impairment and to provide policy advice on developing friendly communities for older people with cognitive impairment.

Objective:To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China.Methods:Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed.Results:6 893 patients in CP ( n=6 453, 93.6%) or AP ( n=440, 6.4%) receiving initial imatinib ( n=4 906, 71.2%), nilotinib ( n=1 157, 16.8%), dasatinib ( n=298, 4.3%) or flumatinib ( n=532, 7.2%) -therapy. With the median follow-up of 43 ( IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance ( n=1 055, 15.3%), intolerance ( n=248, 3.6%), pursuit of better efficacy ( n=168, 2.4%), economic or other reasons ( n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph + ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph + ACA, poorer TFS; Ph + ACA, poorer OS. Conclusion:At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.

Objective:To evaluate pulmonary hypertension (PH) in Chinese people living with human immunodeficiency virus (HIV) receiving long-term anti-retroviral therapy (ART) and those who had not received ART for HIV infection, and to analyze the risk factors for PH in HIV infected individuals, so as to provide evidence for the monitoring and management of cardiovascular diseases in people living with HIV in China.Methods:HIV infected individuals who received long-term ART were from the NCT04463810 study cohort. In addition, using propensity score matching method, gender matched HIV infected individuals who had not received ART were selected as controls from the NCT00872417 and NCT01844297 studies. This study was a retrospective and observational clinical study. Basic data, clinical visit and cardiac Doppler ultrasonography data were collected to analyze the prevalence of PH and risk factors for PH in people living with HIV. Chi-square test and multivariate logistic regression were used for statistical analysis.Results:Among the 318 HIV infected individuals, 159 underwent long-term ART and 159 did not receive ART, which were divided into long-term ART group and ART-na?ve group, respectively. Among 318 HIV infected individuals, 30 cases (9.4%) experienced PH, including 23 cases (7.2%) with critical PH, six cases (1.9%) with mild PH, one case (0.3%) with moderate PH, and there was no severe PH. The prevalence of PH in the long-term ART group was 5.0%(8/159), which was lower than that in the ART-na?ve group (13.8%, 22/159). The difference was statistically significant ( χ2=7.21, P=0.012). Multivariate analysis showed that older age (odds ratio ( OR)=1.064, 95% confidence interval ( CI) 1.019 to 1.111, P=0.016) and unsuppressed HIV status ( OR=2.660, 95% CI 1.041 to 6.797, P=0.041) were independent risk factors for PH of people living with HIV. Conclusions:The prevalence of PH in people living with HIV with long-term ART is lower than that of ART-na?ve people living with HIV. Older age and unsuppressed HIV status are independent risk factors for PH in people living with HIV. Cardiac Doppler ultrasonography is helpful for the early screening of PH in people living with HIV. ART should be actively performed to reduce the incidence of PH in people living with HIV.

The World Health Organization (WHO) classification serves as the internationally recognized standard for diagnosing and classifying hematopoietic and lymphoid tissue tumors(WHO-HEAM). Since 2001, it has undergone multiple upgrades and revisions, updating, clarifying, and refining previous tumor diagnostic and classification standards while incorporating numerous new genetic and molecular biological subtypes. In 2022, two classification proposals emerged due to a wealth of clinical and scientific research results: the fifth edition of the WHO hematopoietic and lymphoid tissue classification (WHO-HAEM5), published in Leukemia journal; and the International Consensus Classification (ICC), published in Blood journal. These two schemes differ in their approach to classifying hematopoietic and lymphoid tissue tumors, posing challenges for clinical laboratory diagnosis and treatment.

Objective:To explore the risks of cardiovascular disease (CVD) and influencing factors in human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) patients with long-term combination anti-retroviral therapy (cART).Methods:The baseline data from the multi-center prospective cohort of HIV/AIDS patients who received long-term cART from 2018 to 2020 were collected. cART-naive HIV/AIDS patients were matched by age and gender using the propensity score matching (PSM) as controls. Data collection adverse events of anti-human immunodeficiency virus drugs reduced model (D: A: D[R]) score, Framingham risk score (FRS) and atherosclerotic cardiovascular disease (ASCVD) risk score were used to assess the 10-year CVD risk in patients with long-term cART treatment and in cART-naive patients. Logistic regression analysis was used to assess the risk factors related to high 10-year CVD risk.Results:A total of 301 HIV/AIDS patients received long-term cART and 300 cART-naive HIV/AIDS patients were included, with an average age of 39.8 years old. There were 490 male accounting for 81.5%. Based on the D: A: D [R] score, 4.3%(13/301) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥10%, and 6.3%(19/300) of patients in the cART-naive group. Based on the FRS, 13.4%(36/269) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥10%, and 10.6%(28/264) in the cART-naive group. Based on the ASCVD risk score, 10.4%(14/135) of patients in the long-term cART group had a 10-year CVD risk assessment of ≥7.5%, and 13.8%(17/123) in the cART-naive group. There was no significant difference in the prevalence of high 10-years CVD risk between the long-term cART group and the cART-naive group assessed by any of risk equations (all P>0.050). By multivariate logistic regression analysis, the risk factors associated with 10-year CVD risk ≥10% assessed by D: A: D[R] model were age≥50 years, smoking, hypertension, diabetes, dyslipidemia and CD4 + T lymphocyte count <200×10 6 cells/L (adjusted odds ratio ( AOR)=697.48, 4 622.28, 23.11, 25.95, 27.72 and 18.25, respectively, all P<0.010). The risk factors associated with 10-year CVD risk ≥10% assessed by FRS were age≥50 years, male, smoking, hypertension, diabetes and dyslipidemia ( AOR=53.51, 4.52, 36.93, 36.77, 6.15 and 3.84, respectively, all P<0.050). The risk factors associated with 10-year CVD risk ≥7.5% assessed by ASCVD risk score were age≥50 years, male, smoking, hypertension, diabetes ( AOR=18.48, 14.11, 14.81, 13.42 and 12.41, respectively, all P<0.050). Conclusions:Long-term cART has no significant effect on the 10-year CVD risk in HIV/AIDS patients. Higher CVD risk in HIV/AIDS patients are mainly associated with CD4 + T lymphocyte counts<200×10 6 cells/L and traditional CVD risk factors, including age≥50 years old, smoking, hypertension, diabetes and dyslipidemia.

Objective: To explore the screen related sedentary behavior among senior primary school students in Beijing and to analyze the influence of psychosocial determinants and nutrition related knowledge on the behavior. Methods: In January 2020, a total of 1 316 students in grade 4-6 from two primary schools in Beijing were selected. Information on video viewing (watching TV or playing video games), self efficacy, habit strength, nutrition related knowledge, outcome expectation and the capacity to persist toward goal attainment were collected through questionnaires. Disordered multi classification Logistic regression and random forest algorithm were used to analyze the influencing factors. Results: The frequency of screen related sedentary was 5.0 (3.0, 10.5) times/week, and the duration was 37.5(9.6, 97.5) min/d in senior elementary school children. The results of disordered multi classification Logistic regression showed that the capacity to persist toward goal attainment, nutrition related knowledge, habit strength, self efficacy and gender positively correlated with the frequency of screen related sedentary ( OR =1.6, 1.7, 4.9, 4.2, 1.5 ), while the nutrition related knowledge, habit strength, self efficacy, outcome expectations, grade and gender positively correlated with screen time ( OR =1.7, 5.6, 5.7, 1.6, 1.6, 1.7)( P <0.05). Random forest regression tree model showed that the top four influencing factors on screen related sedentary frequency were self efficacy, the capacity to persist toward goal attainment, habit strength and nutrition related knowledge and the top four influencing factors on screen time were self efficacy, outcome expectation, nutrition related knowledge, habit strength. Conclusion Screen related sedentary behavior is prevalent among senior primary school students in Beijing. Health education should be strengthened regarding influencing factors of screen related sedentary behavior.

Objective: The association of self efficacy, habit strength, goal intention and outcome expectation with the consumption of snack in senior primary school students were investigated, providing evidence for the application of psychosocial determinants based on Social Cognitive Theory in children s nutrition education. Methods: A total of 1 353 students, 10-12 years old, participated in this study. Participants completed questionnaires for assessing self efficacy, habit strength, goal intention, outcome expectation and snack consumption in January 2020. Results: Average times of snack consumption among primary school students were 5.0 (3.0, 8.5) times per week, and the snack intake were 4.0(0.9, 22.9)g/d. The outcome expectation score was -1.0(-2.0, -1.0 ) points, while the score of children s snack related selfefficacy was (4.3±0.9) points, habit strength score 1.0(1.0, 3.0) points, and the goal intention (4.2±1.2) points. Students with higher snack intake showed lower scores in outcome expectation, self efficacy and goal intention( t=-9.0, 6.8, 5.2, P <0.01). Logistic regression showed negative association between outcome expectation and self efficacy factors with snacking behavior( OR =0.7, 0.8, respectively), as well as positive association between habit strength and snacking behaviors( OR=1.3, P <0.05). Conclusion The evidence indicated that self efficacy, habit strength, goal intention and outcome expectation are associated with child s snack consumption, and can be used as theoretical foundation for child snack consumption education.