BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers.

The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.

Peritoneal dialysis related non-infectious complications: A single-center experience over 20 years.

OBJECTIVES: Non-infectious complications of peritoneal dialysis (NICPD) are common and could be an important cause of technical failure, especially in the early period of peritoneal dialysis (PD) initiation. NICPD are also center- and provider-dependent. This study aimed to investigate the frequency, etiology, and associated outcomes of NICPD in a single center over a period of 20 years. MATERIALS AND METHODS: Data were retrospectively collected in 262 patients who were initiated on PD between April 2001 and April 2021. Inclusion criteria were age 18 years or older and a minimum follow-up period of 3 months. Patients were grouped according to the reason of NICPD: catheter-related, increased intra-abdominal pressure-related, metabolic, and other complications. RESULTS: There were 142 females and 120 males in the study, with a mean age of 44 ± 16.9 years. The mean time on PD was 52.6 ± 40 months. During the follow-up period, 185 (71%) patients experienced 382 NICPD episodes. 26 patients (9.9%) were switched to maintenance hemodialysis (HD) due to NICPD. Outflow failure was the most common NICPD (n = 97). It was also the most common reason for catheter revision (n = 23) and PD discontinuation (n = 12). Catheter intervention was required in 32 patients (12.2%). Prior HD treatment and male gender were independent risk factors for NICPD and catheter-related complications (OR 2.076; p = 0.037; OR: 1.797, p = 0.042, respectively). Early-start PD was associated with a lower risk for NICPD development (OR: 0.393, p = 0.013). CONCLUSION: In this select cohort of PD patients, we found that NICPD are common and outflow failure is the most common cause of NICPD. NICPD are associated with major complications requiring catheter removal or transfer to in-center HD. Early recognition and appropriate management of NICPD are essential to prolonging time on PD in end-stage renal disease patients.

Cognitive Decline in Patients with Leukoaraiosis Within 5 Years after Initial Stroke.

BACKGROUND: Leukoaraiosis (LA) is closely associated with cognitive deficits. The association between LA and cognitive disorders, such as mild cognitive impairment (MCI) and dementia, after initial stroke has not been systematically studied. In this study, we sought to identify whether LA contributes to the occurrence of certain type of cognitive disorders after initial stroke. METHODS: Data from our Stroke Registry were examined, and 5-year follow-up data for LA and cognitive disorders were analyzed. We performed Kaplan-Meier analysis and log-rank test to assess the predictive value of LA for risk of cognitive decline and the Cox proportional hazards model to test the risk factors studied as independent determinants of cognitive impairment. RESULTS: The frequency of patients with normal cognitive function decreased significantly at 5 years compared with initial stroke (78% vs 70%; odds ratio, 1.51; 95% confidence interval, 1.41-1.62). Of 8784 patients, 1659 (19%) had dementia and 964 (11%) had MCI at the final analysis. After 5 years of follow-up, survival analysis showed that all patients with LA had an increased probability of MCI compared with those without LA (P < .0001). Patients with LA had an increased chance of dementia compared with those without LA (P < .0001) at the end of follow-up. Cognitive decline probability was significantly higher in patients with severe LA compared with those with mild/moderate LA (P < .0001). Cox regression analyses showed that recurrence of stroke (hazard ratio [HR], 3.92 [95% CI, 3.26-4.72]), hypertension (HR, 1.11 [95% CI, 1.0-1.22]), LA (HR, 1.15 [95% CI, 1.05-1.25]), age (HR, 1.05 [95% CI, 1.04-1.06]), hypercholesterolemia (HR, .86 [95% CI, .77-.95]), higher LDL cholesterol (HR, 1.21 [95% CI, 1.11-1.32]), lower HDL cholesterol (HR, .90 [95% CI, .83-.98]), coronary heart disease (HR, .85 [95% CI, .77-.94]), and National Institutes of Health Stroke Scale score at admission (HR, .77 [95% CI, .72-.82]) were also significantly associated with cognitive impairments. CONCLUSIONS: Our findings suggest that patients with LA may be at risk of developing new cognitive impairments at long-term period after initial stroke. The evaluation of the concomitant risk factors, besides providing insights about the possible mechanisms behind the cognitive dysfunction present in LA, may be of help for the prevention of cognitive impairments.