The danger awaiting premature babies: Portal vein thrombosis.

AIM: Umbilical venous catheters are frequently used in the neonatal period. The incidence of umbilical venous catheter-related thrombosis is between 1.3% and 43% in ultrasound scans. This study aimed to determine the incidence and risk of portal vein thrombosis in patients who were hospitalized in the neonatal intensive care unit and underwent umbilical venous catheter insertion. MATERIAL AND METHODS: Premature infants (≤32 gestational weeks) who were hospitalized in a Level III neonatal intensive care unit and underwent umbilical vein catheter placement between 2016 and 2018, were included in the study. The demographic data, clinical risk factors for thrombosis, number of catheter days, catheter locations, times of detection of thrombosis using Doppler ultrasonography, treatment methods and durations, thrombosis follow-up and examinations were obtained retrospectively from the electronic patient files. RESULTS: Ninety-six patients whose complete data could be reached were enrolled in the study. The mean gestational age of the patients was found as 29±2 weeks and the mean birth weight was 1353±369 g. Portal vein thrombosis was detected in 13.5% (n=13) of the patients. Five of the cases of portal vein thrombose were complete occlusion and eight were partial occlusion. All patients with complete occlusion and six patients with partial occlusion were treated with low-molecular-weight heparin for a mean duration of 31±13.8 days. Thrombosis disappeared in 7-120 days in all patients. A thrombophilia mutation was detected in six patients with thrombosis, four of whom had the PAI-1 4G / 5G mutation. CONCLUSION: Portal vein thrombosis which has a significant place among the causes of portal hypertension in childhood, is mostly asymptomatic in the neonatal period and cannot be recognized clinically. It is important to screen and follow up patients with umbilical vein catheters using Doppler ultrasonography in terms of PVT after catheter removal to prevent long-term complications.

Assessment of Health-Related Quality of Life in Pediatric Acute Lymphoblastic Leukemia Survivors: Perceptions of Children, Siblings, and Parents

Objective: We investigated the health-related quality of life (HRQL) in survivors of pediatric acute lymphoblastic leukemia (ALL) and evaluated the perceptions of the children, their siblings, and their parents. Materials and Methods: Seventy ALL survivors, who were between 7 and 17 years of age and had completed therapy ≥2 years, were included. The control group consisted of their healthy siblings. HRQL was assessed by the age-specific KINDLR questionnaire. Results: No significant differences could be found among HRQL scores of ALL survivors with respect to variables such as sex, risk group, and having chronic illness. HRQL scores for physical well-being, emotional well-being, family, and social functioning of the patient and sibling self-reports and parent proxy reports were lower than the expected values for healthy and chronically ill children. Conclusion: These results demonstrate that both ALL survivors and their families need help via psychological counseling programs to improve their HRQL even after completion of therapy.

Mutational Epidemiology of Congenital Fibrinogen Disorders.

BACKGROUND: Numerous mutations in FGA, FGB or FGG lead to congenital fibrinogen disorders (CFDs), but their epidemiology is not well characterized. The aim of this study was to evaluate the molecular epidemiology of CFD and to develop a genotyping strategy. METHODS: Genetic data from 266 unrelated CFD patients genotyped at our laboratory and from a CFD open access database (n = 1,142) were evaluated. We developed a step-wise screening strategy for the molecular diagnosis of CFD and prospectively tested this strategy on 32 consecutive CFD probands. RESULTS: We identified 345 mutated alleles overall, among 187 heterozygous, 63 homozygous and 16 compound heterozygous individuals. Afibrinogenemia was almost always caused by null mutations (98.6%), mainly in FGA (85%). Hypofibrinogenemia was mainly caused by missense mutations of FGB or FGG (54.2%). Dysfibrinogenemia was almost always caused by heterozygous missense mutations (99.3%) in FGA and FGG. Hotspot mutations were prevalent among quantitative (33.1%) and qualitative fibrinogen disorders (71.1%). The mutational cluster at our laboratory was similar with that reported in the CFD open access database. The proposed step-wise genetic screening strategy proved efficient in both the development and validation samples for CFD: the screening of FGA exons 2, 4, 5 and FGG exon 8 and search for the 11 kb deletion of FGA led to the identification of approximately 80% of mutated alleles, including 15 new mutations. CONCLUSION: The described molecular epidemiology of CFD is complex. The proposed step-wise genetic screening strategy may provide an efficient way to identify causative mutations analysing a minimal number of exons.

Catheter-associated bloodstream infections in pediatric hematology-oncology patients.

Catheter-associated bloodstream infections (CABSIs) are common complications encountered with cancer treatment. The aims of this study were to analyze the factors associated with recurrent infection and catheter removal in pediatric hematology-oncology patients. All cases of CABSIs in patients attending the Department of Pediatric Hematology-Oncology between January 2008 and December 2010 were reviewed. A total of 44 episodes of CABSIs, including multiple episodes involving the same catheter, were identified in 31 children with cancer. The overall CABSIs rate was 7.4 infections per 1000 central venous catheter (CVC) days. The most frequent organism isolated was coagulase-negative Staphylococcus (CONS). The CVC was removed in nine (20.4%) episodes. We found that hypotension, persistent bacteremia, Candida infection, exit-side infection, neutropenia, and prolonged duration of neutropenia were the factors for catheter removal. There were 23 (52.2%) episodes of recurrence or reinfection. Mortality rate was found to be 9.6% in children with CABSIs. In this study, we found that CABSIs rate was 7.4 infections per 1000 catheter-days. CABSIs rates in our hematology-oncology patients are comparable to prior reports. Because CONS is the most common isolated microorganism in CABSIs, vancomycin can be considered part of the initial empirical regimen.