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1.
World J Clin Cases ; 12(18): 3428-3437, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38983435

RESUMO

BACKGROUND: Individuals with diabetes mellitus are more likely to experience depression, although most patients remain undiagnosed. The relation between total bilirubin and depression has been increasingly discussed, but limited studies have examined the association of total bilirubin with depression risk in adults with diabetes, which warrants attention. AIM: To investigate the association between total bilirubin levels and the risk of depression in adults with diabetes. METHODS: The study included adults with diabetes from the National Health and Nutrition Examination Survey 2007-2018. Depression was determined using the Patient Health Questionnaire-9. Multivariable logistic regression, propensity score-matched analysis and restricted cubic spline models were utilized to investigate the association between total bilirubin levels and depression risk in adults with diabetes. RESULTS: The study included 4758 adults with diabetes, of whom 602 (12.7%) were diagnosed with depression. After adjusting for covariates, we found that diabetic adults with lower total bilirubin levels had a higher risk of depression (OR = 1.230, 95%CI: 1.006-1.503, P = 0.043). This association was further confirmed after propensity score matching (OR = 1.303, 95%CI: 1.034-1.641, P = 0.025). Subgroup analyses showed no significant dependence of age, body mass index, sex, race or hypertension on this association. Restricted cubic spline models displayed an inverted U-shaped association of total bilirubin levels with depression risk within the lower range of total bilirubin levels. The depression risk heightened with the increasing levels of total bilirubin, reaching the highest risk at 6.81 µmol/L and decreasing thereafter. CONCLUSION: In adults with diabetes, those with lower levels of total bilirubin were more likely to have depressive symptoms. Serum total bilirubin levels may be used as an additional indicator to assess depression risk in adults with diabetes.

2.
Hematology ; 27(1): 802-808, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35866546

RESUMO

OBJECTIVES: To identify the clinical phenotypic and molecular pathogeneses of four cases of coagulation factor XII deficiency and to deepen the cognition of this disease. METHODS: Coagulation tests were performed through one stage of coagulation on a STAGO coagulation analyser. Coagulation factor XII antigen was detected using enzyme-linked immunosorbent assay. The species conservatism and structural change of mutant proteins were analysed using MegAlign and PYMOL. Meanwhile, missense variants and a novel splice site variant were identified using PolyPhen2 and NetGene2. RESULTS: The four cases had an observably prolonged activated partial thromboplastin time but without obvious bleeding tendency. Their coagulation factor XII activity (FⅫ:C) and antigen (FXII:Ag) were greatly reduced. Six mutations were detected: NM_000505.4:c.398-1G>A, NP_000496.2:p.(Pro182Leu), NP_000496.2:p.(Ser479Ter), NP_000496.2:p.(Cys559Arg), NC_000005.10:g.7217_7221delinsGTCTA and NM_000505.4:c.1681-1G>A. The first five are newly discovered mutations. The two missense mutation sites were highly conservative, and their protein secondary structure changes may occur not only on the mutation sites but also on other domains. In silico analysis revealed that NP_000496.2:p.(Pro182Leu) may be BENIGN, NP_000496.2:p.(Cys559Arg) may be damaging, and that NM_000505.4:c.398-1G>A and NM_000505.4:c.1681-1G>A are crucial for splicing. CONCLUSION: We found six types of mutations, of which five were novel. The two missense mutation sites might be closely related to the function of coagulation factor XII. The mutations were the primary culprits of factor XII deficiency.


Assuntos
Deficiência do Fator XII , Fator XII/genética , Deficiência do Fator XII/genética , Humanos , Mutação , Mutação de Sentido Incorreto , Tempo de Tromboplastina Parcial
3.
J Clin Lab Anal ; 34(7): e23295, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32170805

RESUMO

BACKGROUND: Platelets play a role in tumor cell growth, metastasis, and angiogenesis, and the present study aimed to evaluate diagnostic and prognostic values of platelet parameters in patients with gynecological tumors. METHODS: A total of 1062 women were included. Differences of platelet parameters (platelet count [PLT], plateletcrit [PCT], mean platelet volume [MPV], platelet-large cell rate [P-LCR], and platelet distribution width [PDW]) between different categories were analyzed by nonparametric test. The optimal cutoff value was calculated with receiver operating characteristic analysis. Overall survivals were analyzed with Kaplan-Meier method and log-rank tests for univariate analysis. RESULTS: Platelet count and PCT were significantly increased, and MPV and P-LCR were significantly reduced in malign and benign gynecological tumor groups compared with the controls (P < .001); PDW had no significant differences. There were no significant differences in PLT, PCT, MPV, P-LCR, and PDW between different tumor locations and pathologic types. The optimal cutoff values of PLT, PCT, MPV and P-LCR were 274, 0.26, 10.08, and 24.8 (AUC: 0.661, 0.643, 0.593, 0.562), and PCT had preferable sensibility and specificity (50.84% and 70.42%) in predicting the presence of gynecological tumors. According to survival analysis, increased PLT (≥274 × 109 /L) and PCT (≥0.26), and induced MPV (<10.08 fL) and P-LCR (<24.8%) were associated with shorter overall survival. CONCLUSIONS: Platelet count, PCT, MPV, and P-LCR can be used as preferable auxiliary parameters for predicting the presence of gynecological tumors. Increased PLT and PCT, or decreased MPV and P-LCR indicated a heavier tumor burden and shorter overall survival.


Assuntos
Plaquetas/patologia , Neoplasias dos Genitais Femininos/sangue , Neoplasias dos Genitais Femininos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Neoplasias dos Genitais Femininos/mortalidade , Neoplasias dos Genitais Femininos/cirurgia , Humanos , Estimativa de Kaplan-Meier , Volume Plaquetário Médio , Pessoa de Meia-Idade , Contagem de Plaquetas , Período Pré-Operatório , Curva ROC , Adulto Jovem
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