Balkan Medical Journal最新文献

Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common CPLANE1 allele among our population (NM_001384732.1:c.1819delT;c.7817T>A, further after referred as “complex allele”). Pathogenic variants in the CPLANE1 (C5orf42) gene are reported to cause JS type 17, a primary ciliopathy with various system defects.

Aims: To examine the hypothesis that the CPLANE1 “complex allele,” whether homozygous or compound heterozygous, is a common cause of EPLs in our population.

Study design: Cohort study/case-control study.ontrol study.

Methods: In this study, we used polymerase chain reaction-based methods to screen for CPLANE1 “complex allele” presence among 246 euploid EPLs (< 12 gestational weeks) from families in North Macedonia. We also investigated the impact of this allele in 650 women with EPLs versus 646 women with no history of pregnancy loss and at least one livebirth, matched by ethnic origin.

Results: We found a high incidence of JS in the total study group of EPLs (2.03%), with a considerably higher incidence among Albanian families (6.25%). Although not statistically significant, women with EPLs had a higher allele frequency of the CPLANE1 “complex allele” (AF = 1.38%) than the controls (AF = 0.85%; p = 0.2). Albanian women had significantly higher frequency of the “complex allele” than the Macedonians (AF = 1.65% and 0.39%, respectively; p = 0.003).

Conclusion: To the best of our knowledge, this is the highest reported incidence of fetal monogenic disease that might cause EPLs. Targeted screening for the CPLANE1 “complex allele” would be warranted in Albanian ethnic couples because it would detect one JS in every 16 euploid EPLs. Our findings have a larger impact on the pathogenesis of pregnancy loss and contribute to a better understanding of the pathogenicity of the variants in the CPLANE1 gene.

Background: Anemia remains a significant public health concern in Gabon, particularly among children, adolescents, and females. Gabon is also home to two major species of filarial worms, Loa and Mansonella spp., which cause microfilaremia. The epidemiological nexus between hemoglobin (Hb) concentrations and microfilaremia in Gabonese first-time blood donors remains unknown.

Aims: To understand better the epidemiological relationship between anemia and microfilaremia to improve donor selection and management protocols.

Study design: A retrospective cohort study.

Methods: This study was conducted among first-time blood donors in Lambaréné between March 2018 and October 2019. Participants aged 16-65 years old and weighing a minimum of 50 kg were enrolled using standard donor selection criteria. An automatic hematological analyzer was used to quantify Hb concentrations, and microscopy techniques were used to detect the presence of microfilariae.

Results: Microfilariae were found in 4.8% (35/723) of the 723 first-time blood donors from Lambaréné. Anemia was classified as mild in 35.5% (257/723) and moderate in 1% (7/723). No significant associations were found between the distribution of microfilariae and variables such as age, sex, socioprofessional classification, marital status, or residence. Blood group O donors had a higher prevalence of microfilariae (6%) than non-O donors (2.7%). However, the observed difference was not statistically significant (AOR =2.3, p = 0.052). Furthermore, microfilariae were associated with increased moderate anemia (3.7% vs. 29%, AOR =15.6, p = 0.003).

Conclusion: Our findings highlight microfilaremia as a possible etiological cause of anemia among Gabonese blood donors, emphasizing the need for further research and a potential review of donor management strategies.

Background: The changes in risk scores of inflammatory markers among patients diagnosed with hepatocellular carcinoma (HCC) remain unknown.

Aims: To investigate the relationship between the inflammation risk score and other contributing factors and the prognostic outcomes in patients with moderate and advanced hepatitis B virus (HBV)-related HCC.

Study design: A retrospective cohort study.

Methods: A total of 174 patients with moderate and advanced HBV related HCC were recruited to investigate the impact of stratified inflammatory risk scores and other associated risk factors on disease prognosis. Based on the optimal cut-off values calculated by the Youden index, the patients were divided into high-risk and low-risk groups based on their inflammation risk scores.

Results: The study found a significant difference in median survival time between the low-risk and high-risk groups based on the inflammation risk score. Furthermore, the inflammation risk score, alpha-fetoprotein levels, transarterial chemoembolization treatment, and Barcelona Clinic Liver Cancer stage were identified as independent prognostic factors. The four variables were used to construct a prognostic nomogram for HCC. Subsequent evaluations using time-dependent receiver operating characteristic analysis and calibration curve tests revealed the nomogram's commendable discriminatory ability. As a result, the nomogram proved to be an effective tool for predicting survival at 2- to 4-years.

Conclusion: The inflammation risk score has been identified as a significant prognostic factor for HBV-related HCC. The development of nomogram models has provided a practical and effective tool for determining the prognosis of patients affected by HBV-related HCC.

Background: Pelvic organ prolapse (POP) is a common gynecological chronic disorder. Human vaginal fibroblasts (HVFs) that maintain the integrity of vaginal wall tissues are essential for keeping pelvic organs in place. Apoptosis and the degradation of the extracellular matrix in HVFs contribute to the progression of POP. The cytokine signal transduction inhibitor 3 (SOCS3) exerts significant regulatory effects on cell signal transduction pathways, thereby affecting various pathological processes.

Aims: To explore the role and mechanism of SOCS3 on HVFs in the context of POP.

Study design: In vitro cell lines and human-sample study.

Methods: Anterior vaginal wall tissues were obtained from POP or non-POP patients for the analysis of SOCS3 expression. HVFs were isolated from the vaginal tissues of POP patients, and SOCS3 was either overexpressed or knocked down in HVFs via lentivirus infection. Subsequently, the biological function and mechanism of SOCS3 in HVFs were investigated.

Results: SOCS3 was highly expressed in the vaginal tissues of POP patients compared to non-POP patients. Functionally, the overexpression of SOCS3 suppressed cell viability while promoting cell apoptosis in HVFs. The overexpression of SOCS3 also accelerated extracellular matrix degradation (decreasing collagen I, collagen III, and elastin, and increasing MMP2 and MMP9). In terms of mechanism, NR4A1 transcriptionally activated SOCS3 by binding to its promoter. Furthermore, rescue experiments revealed that SOCS3 knockdown hindered NR4A1 overexpression-induced cell apoptosis and extracellular matrix degradation in HVFs.

Conclusion: SOCS3 mediated the apoptotic and extracellular matrix degradation effects of NR4A1 on HVFs, underlining that the restraining of the SOCS3 expression may be a promising strategy for POP treatment.