Clinical Correlates of Ambulatory Blood Pressure Phenotypes at a Tertiary Care Hospital in Turkey

Background/Aims: Hypertension and its complications are major public health issues worldwide due to their association with high cardiovascular morbidity and mortality. Despite significant progress in health, the prevalence of hypertension is increasing. Ambulatory blood pressure monitoring (ABPM) is becoming increasingly important for the management of hypertension. In this study, we aimed to investigate the clinical and laboratory correlates of ambulatory blood pressure (ABP) phenotypes at a tertiary care hospital in Turkey. Methods: The characteristics of 1053 patients were retrospectively obtained from the hospital database. Hypertension was defined as patients with office blood pressure (BP) ≥140/90 mmHg and/or previously diagnosed hypertension and/or the use of antihypertensive medication. According to the office BP and ABPM results patients were identified namely: (1) sustained normotensive (SNT) patients (both office BP and ABPM were normal), (2) sustained hypertensive (SHT) patients (both office BP and ABPM were high), (3) masked hypertensive (MHT) patients (office BP were normal, but ABPM were high), (4) white coat hypertensive (WCHT) patients (office BP were above limits, but ABPM were normal). Results: A total of 1053 patients were included to the study (female/male: 608/445 and mean age 55 ± 15 years). The mean age of patients with hypertension was significantly higher than without hypertension (p< 0.0001). Hypertension was more frequent in females (p=0.009). The rates of history of diabetes mellitus (DM), hyperlipidemia (HL), and chronic kidney disease (CKD) were higher in patients with hypertension (p< 0.0001). Among patients with hypertension (n=853, 81%), ABPM results showed that 388 (45%) of patients had SHT, 92 (11%) had MHT, and 144 (17%) had WCHT, whereas 229 (27%) had SNT. Patients with MHT were significantly older than patients with SNT (p=0.025). The prevalence of SHT was higher in men than in women, whereas the prevalence of WCHT was higher in women than in men (p< 0.0001). There was no significant difference between 4 groups with regard to body mass index (p=0.142), a history of DM (p=0.189) and smoking status (self-reported) (p=0.306). Patients with SHT had the highest prevalence of history of hypertension, HL and CKD (p< 0.0001). Among patients without hypertension, 26 (13%) of patients had MHT and none of those patients was on antihypertensive treatment. Conclusion: Potential usages of ABPM in Turkey may include screening of high risk individuals who have traditional cardiovascular risk factors. It also provides clinicians valuable information on abnormal ABP phenotypes. Future studies are needed to clarify the risk factors of different ABP phenotypes and to evaluate the role of ABPM on detection and control of hypertension

Genetic screening of early-onset patients with systemic lupus erythematosus by a targeted next-generation sequencing gene panel

Objective In this study, we aimed to screen 31 genes (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, DNASE1, DNASE1L3, PRKCD, ACP5, SLC7A7, IFIH1, TMEM173, ISG15, CYBB, FAS, FASLG, KRAS, NRAS, MAN2B1, PEPD, PTPN11, RAG2, and SHOC2), that we have categorized under the umbrella term "monogenic lupus" using a targeted next-generation sequencing (NGS) panel in 24 individuals with early-onset (10 years of age) disease. Methods A total of 48 SLE patients (24 with disease onset 10 years of age) were included. Patients with late-onset disease have been used as patient controls. Sequencing was carried out using 400 bp kit on the Ion S5 system. Results Among the 48 patients, three had one pathogenic variant and 45 patients had at least one rare variant classified as benign, likely benign or variant of unknown significance (VUS). In all three patients with a pathogenic variant, the onset of disease was before 10 years of age. Two patients (they were siblings) carried C1QA homozygote pathogenic allele (p.Gln208Ter, rs121909581), and one patient carried PEPD heterozygote pathogenic allele (p.Arg184Gln, rs121917722). Conclusion We demonstrated a pathogenic variant in our target gene panel with a frequency of 9.52% in patients with a disease onset <= 10 years of age. All patients with early-onset SLE phenotype, irrespective of a positive family history for SLE or parental consanguinity, should be scanned for a single-gene defect by a targeted gene panel sequencing. With the discovery of many single-gene defects and ongoing efforts to identify novel genes in SLE, similar gene panels including even more genes will possibly become more necessary and practical in the future

Clinical outcomes of cyclin-dependent kinase 4-6 (CDK 4-6) inhibitors in patients with male breast cancer: A multicenter study

Background: Since breast cancer is less common in men than in women, data on the use of new therapeutic agents, including cyclin-dependent kinase 4-6 (CDK 4-6) inhibitors, are limited in patients with metastatic hormone receptor positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) male breast cancer. Therefore; we aimed to investigate the treatment responses of metastatic HR+, HER2-male breast cancer patients treated with CDK 4-6 inhibitors in a multicenter real-life cohort. Methods: Male patients with a diagnosis of HR+ and HER2-metastatic breast cancer, treated with any CDK 4-6 inhibitor, were included in the study. Demographic and clinical characteristics of the patients were recorded. We aimed to determine progression-free survival (PFS) time, response rates and drug related side effects. Results: A total 25 patients from 14 institutions were recruited. The mean age at diagnosis was 57 years. Median follow-up was 19.53 (95% CI: 14.04-25.02) months. The overall response rate was 60%. While the median PFS was 20.6 months in the whole cohort, it wasn't reached in those using CDK 4-6 inhibitors in first line and 10 months in the subsequent lines (p:0.009). No new adverse events were encountered. Conclusion: In our study, we found that CDK 4-6 inhibitors are effective and safe options in men with HR+ and HER2-metastatic breast cancer as in women. Our results support the use of CDK 4-6 inhibitor-based combinations in the first-line treatment of HR+ and HER2-metastatic male breast cancer