ABSTRACT
Jumping translocations are uncommon cytogenetic abnormalities in which a segment of a donor chromosome, often 1q, is transferred to two or more receptor chromosomes. We describe the case of a 64-year-old man with a history of acute myeloid leukemia associated with myelodysplastic syndrome, who presented with a relapse of the leukemia and, concomitantly, with the appearance of a jumping translocation involving chromosome 1q. The patient had a poor clinical course without the possibility of performing targeted treatment, and he died 5 months after relapse. Jumping translocations are a reflection of chromosomal instability, and they could be related to epigenetic alterations such as pericentromeric chromatin hypomethylation, telomere shortening, or pathogenic variants of the TP53 gene. The existing data suggests a poor clinical outcome, a high risk of disease progression, and an unfavorable prognosis. More molecular studies are required to gain an in-depth understanding of the genetic mechanism underlying these alterations and their clinical significance and to be able to apply an optimal treatment to patients.
ABSTRACT
UNLABELLED: ⦠BACKGROUND: Peritoneal dialysis (PD) has limited power for liquid extraction (ultrafiltration), so fluid overload remains a major cause of treatment failure. ⦠METHODS: We present steady concentration peritonal dialysis (SCPD), which increases ultrafiltration of PD exchanges by maintaining a constant peritoneal glucose concentration. This is achieved by infusing 50% glucose solution at a constant rate (typically 40 mL/h) during the 4-hour dwell of a 2-L 1.36% glucose exchange. We treated 21 fluid overload episodes on 6 PD patients with high or average-high peritoneal transport characteristics who refused hemodialysis as an alternative. Each treatment consisted of a single session with 1 to 4 SCPD exchanges (as needed). ⦠RESULTS: Ultrafiltration averaged 653 ± 363 mL/4 h - twice the ultrafiltration of the peritoneal equilibration test (PET) (300 ± 251 mL/4 h, p < 0.001) and 6-fold the daily ultrafiltration (100 ± 123 mL/4 h, p < 0.001). Serum and peritoneal glucose stability and dialysis efficacy were excellent (glycemia 126 ± 25 mg/dL, peritoneal glucose 1,830 ± 365 mg/dL, D/P creatinine 0.77 ± 0.08). The treatment reversed all episodes of fluid overload, avoiding transfer to hemodialysis. Ultrafiltration was proportional to fluid overload (p < 0.01) and inversely proportional to final peritoneal glucose concentration (p < 0.05). ⦠CONCLUSION: This preliminary clinical experience confirms the potential of SCPD to safely and effectively increase ultrafiltration of PD exchanges. It also shows peritoneal transport in a new dynamic context, enhancing the influence of factors unrelated to the osmotic gradient.
Subject(s)
Glucose/metabolism , Hemofiltration/methods , Kidney Failure, Chronic/therapy , Peritoneal Dialysis/methods , Aged , Aged, 80 and over , Biological Transport/physiology , Combined Modality Therapy , Dialysis Solutions/metabolism , Dialysis Solutions/pharmacology , Female , Humans , Kidney Failure, Chronic/diagnosis , Male , Middle Aged , Osmosis , Patient Safety , Peritoneal Dialysis/adverse effects , Peritoneum/metabolism , Pilot Projects , Quality Improvement , Risk Assessment , Sampling Studies , Treatment OutcomeABSTRACT
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