OBJECTIVE: To elucidate the epidemiological characteristics and genetic variant profile of Short-chain acyl-CoA dehydrogenase deficiency (SCADD) among newborns from Hainan Province and evaluate its significance within the local neonatal disease screening panel. METHODS: A total of 84 184 newborns born in Hainan Province from February to December 2024 were included. Tandem mass spectrometry (MS/MS) was employed to detect butyrylcarnitine (C4) and propionylcarnitine (C3) levels in dried blood spots. Screening thresholds were set at C4 > 0.43 μ mol/L and C4/C3 ratio > 0.28. Suspected cases underwent confirmatory testing via urinary ethylmalonic acid analysis by gas chromatography-mass spectrometry and whole-exome sequencing for ACADS gene variants. This study was approved by the Medial Ethics Committee of the hospital (Ethics No.: HNWCMC-2024-55). RESULTS: Six SCADD cases (male-to-female ratio = 1:1) were diagnosed, with all carrying compound heterozygous variants at two loci, yielding a prevalence of 7.13 per 100,000 live births. Four known ACADS gene variants were identified, with both c.322G>A and c.625G>A detected at a frequency of 41.7%. Regular follow-up (as of January 2026) revealed that all diagnosed cases have remained asymptomatic with normal growth and development. CONCLUSION The prevalence of SCADD among newborns in Hainan Province is relatively high, with c.322G>A and c.625G>A as the hotspot variants in the region. Given the absence of clinical phenotypes in all screen-detected cases during long-term follow-up, it is recommended to remove this condition from the routine neonatal screening program for this region to reduce unnecessary anxiety and medical cost.
Humans ; Infant, Newborn ; Neonatal Screening/methods* ; Female ; Male ; Lipid Metabolism, Inborn Errors/epidemiology* ; Acyl-CoA Dehydrogenase/genetics* ; China/epidemiology* ; Follow-Up Studies

Over the past decade, pathology technology in China has undergone rapid development. Through continuous efforts to strengthen normative foundations and quality control, the three-tiered quality control network (national, provincial, and municipal) has been consolidated. These efforts have effectively driven the homogenization of pathology technical quality nationwide. Concurrently, the standardization of laboratory quality management systems and the advancement of automated pathological equipment have laid a solid foundation for the evolution of pathological diagnosis. Breakthroughs in cutting-edge technologies, including digital pathology, artificial intelligence, and molecular pathology, are further catalyzing a paradigm shift from traditional morphological analysis toward next-generation diagnostic pathology. Marking the 70th anniversary of this journal, the field's evolution over the past decade and chart its future course were reviwed systematically, aiming to provide an insightful roadmap for the ongoing progress of the discipline.

Over the past decade, pathology technology in China has undergone rapid development. Through continuous efforts to strengthen normative foundations and quality control, the three-tiered quality control network (national, provincial, and municipal) has been consolidated. These efforts have effectively driven the homogenization of pathology technical quality nationwide. Concurrently, the standardization of laboratory quality management systems and the advancement of automated pathological equipment have laid a solid foundation for the evolution of pathological diagnosis. Breakthroughs in cutting-edge technologies, including digital pathology, artificial intelligence, and molecular pathology, are further catalyzing a paradigm shift from traditional morphological analysis toward next-generation diagnostic pathology. Marking the 70th anniversary of this journal, the field's evolution over the past decade and chart its future course were reviwed systematically, aiming to provide an insightful roadmap for the ongoing progress of the discipline.

ObjectiveMyelodysplastic syndromes （MDS） is a group of clonal hematopoietic stem cell disorders，and this study aims to investigate the expression of hypoxia-inducible factor-1α（HIF-1α） in the bone marrow cells of patients with MDS and its correlation with the clinical features of MDS，the therapeutic efficacy of arsenic-containing Chineseherbal compound，and the survival prognosis. MethodAccording to the inclusion and exclusion criteria，27 MDS patients treated with arsenic-containing Chinese herbal compound in the Department of Hematology，Xiyuan Hospital，China Academy of Chinese Medical Sciences from January 2022 to September 2022 were included，and their bone marrow samples were collected by myelotomy. HIF-1α expression level in bone marrow cells was detected by real-time polymerase chain reaction （PCR） to analyze its correlation with clinical features，and logistic and Cox regression was used to analyze the risk factors affecting the efficacy and prognostic survival of MDS patients. ResultThe HIF-1α mRNA expression level was lower in bone marrow cells of MDS patients than in healthy subjects. HIF-1α was positively correlated with the degree of myelodysplasia（r=0.384，P<0.05） and bone marrow granulocytic system%（G%）（r=0.560，P<0.01）. Logistic regression showed that HIF-1α was a risk factor for the prognosis in the follow-up of the efficacy of treatment（P<0.05）and Cox regression showed that HIF-1α was an independent factor affecting the survival prognosis of MDS patients ［odds ratio（OR）=398.968，95% confidence interval（CI）（1.281，116 858.743），P<0.05］. ConclusionThe level of HIF-1α expression in bone marrow cells of MDS patients was closely related to the degree of clinical myelodysplasia and G%，and HIF-1α was a risk factor for the efficacy for and survival prognosis of MDS patients.

ObjectiveTo investigate the efficacy of Bushen Shengxue prescription and Yiqi Yangxue prescription in the treatment of chronic aplastic anemia and the effect on T cell subsets and the expression of T-box expressed in T cells （T-bet） and GATA binding protein 3 （GATA3）. MethodA total of 585 patients with chronic aplastic anemia who were treated in 19 hospitals in China from May 2018 to June 2021 were enrolled. With the prospective， double-blind and randomized control methods， the patients were randomized into three groups： kidney deficiency group， Qi and blood deficiency group， and control group. The three groups were respectively treated with Bushen Shengxue prescription granule， Yiqi Yangxue prescription granule， and Placebo （half the dose of Bushen Shengxue formula granules）. In addition， all of them were given oral cyclosporin and androgen. The treatment lasted 6 months， with 3 months as a course. The blood routine indexes， T cell subsets， and fusion genes T-bet and GATA3 before and after treatment were analyzed， and the safety indexes were monitored. ResultDuring the observation， a total of 75 cases dropped out and 18 were rejected. Finally， 161 cases in the kidney deficiency group， 164 in the Qi and blood deficiency group， and 167 in the control group were included. After 6 months of treatment， the total effective rate was 98.8% （159/161） in the kidney deficiency group， which was higher than the 79.9% （131/164） in the Qi and blood deficiency group （χ²=30.135， P<0.01） and the 61.7% （103/167） in the control group （χ²=70.126， P<0.01）. The total effective rate was higher in the Qi and blood deficiency group than in the control group （χ²=13.232， P<0.01）. After treatment， the hemoglobin （HGB） content increased significantly in three groups （P<0.05） as compared with that before treatment， particularly the kidney deficiency group （P<0.01）. After treatment， the white blood cell （WBC） count and platelet （PLT） count in the kidney deficiency group and the control group increased compared with those in the Qi and blood deficiency group （P<0.01）. There was no specific difference in neutrophils （ANC） after treatment among the three groups. At the same time point， the level of T helper type 1 （Th1） cells， Th1/Th2 ratio （P<0.05）， level of CD4⁺， and CD4⁺/CD8⁺ ratio （P<0.05） were significantly low in the kidney deficiency group among three groups. There was no significant difference in CD19^-， HLA/DR⁺， and CD25⁺ between the kidney deficiency group and the other two groups， but the T-bet of the kidney deficiency group and the control group was lower than that of the Qi and blood deficiency group （P<0.05）. ConclusionBushen Shengxue prescription exerts therapeutic effect on the aplastic anemia by improving the immunoregulatory mechanism， inhibiting the activity of immune system， modulating T cell subsets， suppressing Th1 and CD4⁺， and promoting bone marrow hematopoiesis. Moreover， it is safe with little side effects， which is worthy of further promotion.

Objective: To investigate the influence of pharmaceutical care pathway on cancer-related fatigue (CRF) and negative emotion in patients with advanced lung cancer undergoing chemotherapy. Methods: Patients with advanced lung cancer admitted to the oncology department of Yongkang first people′s hospital from January 2017 to June 2018 for chemotherapy were randomly divided into two groups:61 cases received conventional clinical pathway management (control group), and 64 cases received conventional clinical pathway combined with pharmaceutical pathway management (intervention group). Fatigue, anxiety, depression scores were compared between the two groups before and after 2, 4 cycles chemotherapy. Results: There was no significant difference in baseline condition between the two groups (P>0.05). After 4 cycles of chemotherapy, emotional, physical and cognitive fatigue scores in the intervention group were lower than control group (t=2.975, 1.512, 2.393, P<0.05). With the increase of chemotherapy cycles, scores of fatigue dimensions in control group were increased (F=44.274,21.740,29.261,7.206, P<0.05). In the intervention group, there were statistically significant differences in scores of fatigue dimensions (F=17.083, 15.902, 17.055, 10.543, P<0.01), among which, scores of behavioral and physical fatigue dimensions were increased (P<0.01), while scores of emotional and cognitive fatigue dimensions were decreased (P<0.01). In terms of negative emotions, depression scores in the intervention group were lower than those in control group at 2 cycles of chemotherapy (t=2.578, P<0.05), and at 4 cycles, anxiety and depression scores were lower than control group (t=7.004, 7.454, P<0.05). As the chemotherapy cycle increased, anxiety and depression scores in the control group increased (F=12.333, 14.819, P<0.05), while those in the intervention group decreased (F=4.992, 3.826, P<0.05). Conclusion The pathway of clinical pharmaceutical care can significantly improve the CRF and negative emotions of patients with advanced lung cancer undergoing chemotherapy.

Objective To discuss the related factors of the malignant tumor complicated with venous throm-boembolism(VTE),which may provide the clinical evidence for prevention,diagnosis and treatment of this disease. Methods Retrospectively reviewed the clinical data of patients with malignant tumor who were diagnosed with VTE from June 2012 to June 2015 in our hospital.Results Among 74 cases with tumor merger VTE,female with thrombosis was higher than the male.67.57% of the tumor with VTE patients was 45 -80 years old.Lung cancer patient with VTE was the highest almost 36.49%.Patients with deep vein catheterization,a history of surgery or merging of hyper-tension were easy occurred VTE,those were 14 cases (18.92%),12 cases (16.22%)and 11 cases (14.86%) respectively.57 VTE patients underwent radiotherapy or chemotherapy treatment.The platelet count,D -dimer, fibrinogen and CRP were associated with thrombosis.Among 74 cases with VTE,67 cases (90.54%)accepted anticoagulation therapy.Conclusion Sex,tumor disease,chemotherapy or radiotherapy treatment,medical history and coagluative function index were associated with VTE.Early diagnosis and treatment is the key to reduce mortality and improve prognosis of malignant tumor with VTE.

Objective: To observe the influence of epidermal growth factor tyrosine kinase inhibitors (EGFR-TKIs) on peripheral blood T lymphocyte subsets, and its efficacy and safety in the treatment of non-small cell lung cancer (NSCLC) patients.Methods: A total of 35 cases with NSCLC in our hospital were selected as the observation group and 28 healthy persons undergoing health examination at the same time were used as the control group.All the NSCLC patients were with EGFR mutations and accepted the EGFR-TKIs therapy.Flow cytometry was employed to detect T lymphocyte subsets in peripherial blood (including CD3+,CD4+,CD8+,CD4+/CD8+ and NK lymphocy-tes)in one week before the treatment, at the 1st, 2nd and 4th cycle after the EGFR-TKIs treatment, and the curative effect and safety were evaluated as well.Results: Before the chemotherapy, the levels of CD3+, CD4+, CD4+/CD8+ and NK lymphocytes in the NSCLC patients were significantly lower than those in the control group (P<0.01), and CD8+ lymphocytes increased significantly (P<0.01).After the treatment of 1, 2 and 4 cycles, the levels of CD4+and CD4+/CD8+ increased in varying degrees when compared with those before the treatment (P<0.01), and CD8+ decreased significantly when compared with that before the treatment (P<0.01).After the treatment of 2 and 4 cycles, NK cells increased in varying degrees when compared with those before the treatment (P<0.05).After the treatment of 4 cycles, the level of CD3+lymphocytes was significantly higher than that before the treatment (P<0.05).The T lymphocyte immune function in the patients with different therapeutic effects showed statistically significant difference (P<0.05).The order of lymphocyte subgroup improvement was PR>SD>PD.The adverse reactions caused by EGFR-TKIs were slight, and all could be improved markedly after the symptomatic treatment.Conclusion: EGFR-TKIs can significantly regulate the expression of T lymphocyte subsets in NSCLC patients and improve the immune function of the patients with promising safety.

Objective To monitor the changes of T lymphocyte subsets during chemotherapy in patients with non-small cell lung cancer(NSCLC).Furthermore,to analyze the relationship between chemotherapy curative effect and the T lymphocyte subsets.Methods 42 cases with NSCLC were selected as the subjects,and 28 people undergoing health examination were selected as control group.All NSCLC patients just received NSCLC standard chemotherapy,then respectively determined T lymphocyte subsets at pre-chemotherapy and after 2,4 courses of chemotherapy.Every two cycles of chemotherapy we would evaluate the effect of chemotherapy.Results Before chemotherapy,the patients′ CD+3(t=3.222,P<0.01),CD+4 (t=9.655,P<0.01),CD+4/CD+8 (t=10.657,P<0.01) and NK lymphocytes (t=5.310,P<0.01) were significantly decreased than those of the control group,and CD+8 lymphocytes (t=7.926,P<0.01) increased significantly.There were no significant differences in patients' gender,age,but Ⅰ-Ⅱ period patients′ CD+4(t=2.097,P<0.05),CD+4/CD+8(t=2.045,P<0.05) immune function were better than Ⅲ-Ⅳ period patients.In patients with adenocarcinoma,CD+8(t=2.015,P<0.05),CD+4/CD+8(t=2.315,P<0.05) immune function were better than squamous carcinoma.The patients received chemotherapy after 2,4 courses,the T lymphocyte subgroup was comprehensively improved (P<0.01).The curative effect of chemotherapy was positively correlated with T lymphocyte function,PR>SD>PD.Conclusion Chemotherapy can improve the NSCLC patients′ T lymphocyte subgroup,and improve the situation related to the curative effect of chemotherapy.