Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective To investigate the impacts of knocking-down Keratin 17(KRT17)on proliferation,apoptosis and epithelial mesenchymal transition(EMT)of bladder cancer cells by regulating Wnt/β-catenin signaling pathway.Methods The expression of KRT17 mRNA and protein in bladder cancer tissue,adjacent tissue,bladder cancer cell lines(5637,T24 and UM-UC-3)and human immortalized urothelial cell line SV-HUC-1 were detected by qRT-PCR and Western blot assay.Immunohistochemical staining was used to detect the expression of KRT17 in the tissues.Cells transfected with NC siRNA and KRT17 siRNA were labeled as the NC siRNA group and the KRT17 siRNA group,respectively.T24 cells treated with 20 mmol/L LiCl were labeled as the LiCl group.T24 cells transfected with KRT17 siRNA and treated with 20 mmol/L LiCl were labeled as the KRT17 siRNA+LiCl group.The non transfected cells were used as the blank group.CCK-8,cloning formation experiment and flow cytometry were applied to detect cell proliferation and apoptosis.QRT-PCR was applied to detect KRT17 mRNA expression.Western blot assay was applied to detect the expression levels of KRT17,β-catenin,Cyclin D1,EMT related proteins Vimentin,E-cadherin and Snail1 proteins.Results The expression of KRT17 mRNA and protein was greatly increased in bladder cancer tissue and cells(P＜0.05).The cell proliferation,colony count,KRT17 mRNA and protein expression,β-catenin,Cyclin D1,Vimentin,and Snail expression were lower in the KRT17 siRNA group than those in the NC siRNA group and the blank group,while apoptosis and E-cadherin expression were higher(P＜0.05).LiCl reversed the inhibition of KRT17 knockdown on the malignant behavior of bladder cancer.Conclusion Knocking-down KRT17 inhibits the proliferation and EMT of bladder cancer cells and promotes their apoptosis by inhibiting Wnt/β-catenin signaling pathway.

Objective To investigate the impacts of knocking-down Keratin 17(KRT17)on proliferation,apoptosis and epithelial mesenchymal transition(EMT)of bladder cancer cells by regulating Wnt/β-catenin signaling pathway.Methods The expression of KRT17 mRNA and protein in bladder cancer tissue,adjacent tissue,bladder cancer cell lines(5637,T24 and UM-UC-3)and human immortalized urothelial cell line SV-HUC-1 were detected by qRT-PCR and Western blot assay.Immunohistochemical staining was used to detect the expression of KRT17 in the tissues.Cells transfected with NC siRNA and KRT17 siRNA were labeled as the NC siRNA group and the KRT17 siRNA group,respectively.T24 cells treated with 20 mmol/L LiCl were labeled as the LiCl group.T24 cells transfected with KRT17 siRNA and treated with 20 mmol/L LiCl were labeled as the KRT17 siRNA+LiCl group.The non transfected cells were used as the blank group.CCK-8,cloning formation experiment and flow cytometry were applied to detect cell proliferation and apoptosis.QRT-PCR was applied to detect KRT17 mRNA expression.Western blot assay was applied to detect the expression levels of KRT17,β-catenin,Cyclin D1,EMT related proteins Vimentin,E-cadherin and Snail1 proteins.Results The expression of KRT17 mRNA and protein was greatly increased in bladder cancer tissue and cells(P＜0.05).The cell proliferation,colony count,KRT17 mRNA and protein expression,β-catenin,Cyclin D1,Vimentin,and Snail expression were lower in the KRT17 siRNA group than those in the NC siRNA group and the blank group,while apoptosis and E-cadherin expression were higher(P＜0.05).LiCl reversed the inhibition of KRT17 knockdown on the malignant behavior of bladder cancer.Conclusion Knocking-down KRT17 inhibits the proliferation and EMT of bladder cancer cells and promotes their apoptosis by inhibiting Wnt/β-catenin signaling pathway.

Objective:To explore the clinical phenotypes and hematological characteristics of β-thalassemia combined with α-globin gene triplet.Methods:A retrospective case analysis study was conducted, taking individuals diagnosed with thalassemia who sought for outpatient services in No 1 people′s hospital of Chenzhou affiliated to South China University from August 10, 2021, to December 31, 2023 as study objectives. Among them, there were 8 768 males and 11 707 females, aged 31.5 (23.0, 46.0) years old. Blood analysis were analyzed by hematology analyze.The hemoglobin(Hb) Hb A, HbA 2,Hb F bands were analyzed by Capillary electrophoresis method, and the genotypes of thalassemia were analyzed by high-throughput sequencing technology.Hematological parameters between different genotypes of thalassemia were analyzed using t-tests and calibrated t-tests for data analysis. Results:A total of 27 cases of beta thalassemia combined with alpha globin triplet were detected, The average hemoglobin (Hb) of 11 cases of β Codon41/42 (-CTTT)/β N combined with ααα anti 4.2 (3.7) (92±16)g/L was lower than that of β Codon41/42 (-CTTT)/β N(112±11)g/L, and the difference was statistically significant ( t=3.97, P0.05). The average Hb of 8 cases of β IVS-Ⅱ-654 (CT)/β N combined with ααα anti 4.2 (3.7)(85±21) g/L was lower than that of β IVS-Ⅱ-654 (CT)/β N(116±12) g/L, and the difference was statistically significant ( t=4.05, P0.05). Conclusion:When the mutation site is at Codon41/42 (-CTTT) or IVS-Ⅱ-654 (CT), β-thalassemia combined with alpha globin triplet can make the clinical manifestations of β-thalassemia at this site more pronounced.

Objective:To systematically evaluate the effectiveness of Kunxian capsule related regimens for patients with lupus nephritis(LN)in order to provide a reference basis for treatment strategies for LN patients.Methods:The computer searched the rele-vant studies of Kunxian capsule in PubMed,Web of Science,Cochrane Library,CBM,CNKI,Wanfang and VIP databases on the treatment of LN,the limited time for the establishment of the database is April 6,2022,and used R 4.0.2 software and Revman 5.3 software for Meta-analysis.Results:Four RCTs with 1 cohort study including 310 patients were finally included.The results of the Me-ta-analysis showed that:In terms of 24 h urinary protein and SLEDAI score,Glucocorticoid+Cyclophosphamide+Kunxian capsule achieved the best result after treatment;in terms of Scr,IgE,and IgG,the levels of each index were significantly lower in Glucocorti-coid+Cyclophosphamide+Kunxian capsules than in Glucocorticoid+Cyclophosphamide(P<0.05).Conclusion:The 5 regimens may work best as Glucocorticoids+Cyclophosphamide+Kunxian capsules in terms of clinical efficacy in treating LN patients.Because of the quality and quantity limitations of the included studies,more high-quality studies are needed for validation.

Objective:To summarize the best evidence of medication adherence interventions for patients with multiple chronic conditions.Methods:According to the "6S" evidence model, literature on medication adherence in patients with multiple chronic conditions was retrieved from BMJ Best Clinical Practice, UpToDate, Medlive, National Institute for Health and Clinical Excellence, Cochrane Library, Embase, PubMed, Web of Science, China Biology Medicine disc, China National Knowledge Infrastructure, WanFang data and so on. The search period was from establishing the database to August 30, 2023.Results:A total of 16 articles were included, including three guidelines, four expert consensus, seven systematic reviews, and two meta-analyses. Twenty-seven pieces of evidence were summarized from six aspects of compliance assessment, educational intervention, behavioral intervention, optimized treatment program, technical reminder intervention, and social-psychological-emotional intervention.Conclusions:The best evidence of medication adherence interventions for patients with multiple chronic conditions summarized provides a reference for medical and nursing staff to develop medication adherence interventions.

Objective: To systematically evaluate the influencing factors for medication compliance in patients with comorbidities of chronic diseases, so as to provide the evidence for improving medication compliance. Methods: Literature on influencing factors for medication compliance in patients with comorbidities of chronic diseases were retrived from CNKI, Wanfang Data, VIP, SinoMed, PubMed, Web of Science, Cochrane Library and Embase from inception to January 20, 2024. After independent literature screening, data extraction, and quality assessment by two researchers, a meta-analysis was performed using RevMan 5.4 and Stata 16.0 softwares. Literature were excluded one by one for sensitivity analysis. Publication bias was assessed using Egger's test. Results: Initially, 7 365 relevant articles were retrieved, and 35 of them were finally included, with a total sample size of about 150 000 individuals. There were 30 cross-sectional studies and 5 cohort studies; and 11 high-quality studies and 24 medium-quality studies. The meta-analysis showed that the demographic factors of lower level of education (OR=2.148, 95%CI: 1.711-2.696), lower economic income (OR=1.897, 95%CI: 1.589-2.264), male (OR=0.877, 95%CI: 0.782-0.985), living alone (OR=2.833, 95%CI: 1.756-4.569) and unmarried (OR=2.784, 95%CI: 1.251-6.196); the medication treatment factors of polypharmacy (OR=1.794, 95%CI: 1.190-2.706), potentially inappropriate medication (OR=2.988, 95%CI: 1.527-5.847), low frequency of daily medication (OR=0.533, 95%CI: 0.376-0.754) and adverse drug reactions (OR=3.319, 95%CI: 1.967-5.602); the disease factors of long course of disease (OR=2.118, 95%CI: 1.643-2.730), more comorbidities (OR=1.667, 95%CI: 1.143-2.431) and cognitive impairment (OR=2.007, 95%CI: 1.401-2.874); and the psychosocial factors of poor belief in taking medication (OR=1.251, 95%CI: 1.011-1.547), poor self-rated health (OR=1.990, 95%CI: 1.571-2.522) and being guided by healthcare professionals (OR=0.151, 95%CI: 0.062-0.368) were the influencing factors for medication compliance in patients with chronic comorbidities. Conclusion The medication compliance in patients with comorbidities of chronic diseases is associated with demographic factors, pharmacological factors, disease factors and psychosocial factors, mainly including living alone, adverse drug reactions, course of disease, number of comorbidities and medication beliefs.

Objective:To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.Methods:A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing.Results:A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-Ⅰ-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+ (Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50(G>A)heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.Conclusion:Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variations (CNVs) in fetuses. METHODS: 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People's Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. RESULTS: Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNVs were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNVs (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). CONCLUSION NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNVs, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Chromosome Disorders/genetics* ; Aneuploidy ; Fetus

A 17-year-old female patient developed fever after novel coronavirus infection and took ibuprofen sustained-release capsules 0.3 g 4 times within 3 days by herself. During the medication, the patient developed the symptoms such as chest tightness, shortness of breath, limbs fatigue, sweating, muscle soreness, and dark urine successively. Laboratory tests showed creatine kinase (CK) 583 800 U/L, CK-MB 45 μg/L, lactate dehydrogenase 4 772 U/L, serum creatinine (Scr) 392 μmol/L, myoglobin 87 μg/L, and urea nitrogen 32.8 mmol/L. It was considered that rhabdomyolysis with acute kidney injury might be related to ibuprofen. The patient was given symptomatic treatments such as renal replacement therapy, hemodialysis, blood transfusion, rehydration, diuresis, etc. Thirty-three days later, the patient′s muscle soreness and other symptoms disappeared, the urine color returned to normal, laboratory tests showed CK 168 U/L, myoglobin 24 μg/L, and Scr 52 μmol/L.