Type II Pleuropulmonary Blastoma in a 4 Month Old Infant with Negative Dicer1 Mutation on Next Generation Sequencing.

INTRODUCTION: Pleuropulmonary blastoma (PPB) is a rare, but aggressive tumor in the pediatric population. PPB is a dysontogenetic neoplasm of childhood that involves the lungs and/or pleura. Young relatives of children with PPB have an increased incidence of neoplasias and dysplasias. According to tumor tissue histopathology, PPB evolves from a cystic to solid state over time. PPBs can be sub-classified as type I (purely cystic), type II (having both cystic and solid elements), and type III (completely solid). Type II and type III tumors may be associated with metastasis, with the brain being the most common metastatic site. Due to the primitive nature of cells in the tumor mass, PPBs are very aggressive tumors that are resistant to therapy. The prognosis depends on the histopathology content and tumor type. Respiratory problems are the main complaint and diagnosis can be made only after additional examinations. Genetic relations through family members are associated with mutations in the DICER1 gene; between 60-80% of patients with PPBs are positive for DICER1 mutations. Mosaicism has also been reported. AIM: The aim was to present a case of a 4 month-old infant with type II PPB, who had a negative result for DICER1 mutation in next generation sequencing. To detail the clinical presentation of this patient, we present radiographic and ultrasound findings and results of histopathological analysis, as well as genetic and scintigraphic findings and chemotherapy treatment. CASE REPORT: Here we describe the genetic analysis of a patient with PPB who was negative for mutations in DICER1 and who had no relatives with disease. This patient underwent radical resection of the tumor and began therapy, but subsequently died after developing leukopenia and sepsis. CONCLUSION: This case provides an example of a patient with PPB who was negative for DICER1 mutation upon genetic analysis and emphasizes the potential for disease that does not involve mutation of this gene.

Correlation of Inflammation and Lipoprotein (a) with Hypercoagulability in Hemodialysis Patients.

BACKGROUND: Inflammatory and procoagulant markers are potential mediators for the cardiovascular risk in hemodialysis patients. Lipoprotein (a) [Lp(a)], is another important risk factor with inflammatory and procoagulant effects. MATERIALS AND METHODS: In 78 hemodialysis patients and 40 controls, C-reactive protein (CRP), Interleukin-6 (IL-6), lipoprotein (a) [Lp (a)], fibrinogen, D-dimer, von Wilebrand factor (vWF) and serum albumin were determined. RESULTS: CRP, IL-6, Lp(a), fibrinogen, D-dimer and vWF, were significantly higher, and serum albumin was significantly lower in patients compared to controls (24.40 mg/L vs. 6.39 mg/L, p<0.001; 1.92 pg/ml vs. 0.35 pg/ml, 28.05 mg/dL vs.16.25 mg/dL, p<0.001; 3.44 g/L vs. 2.55 g/L, p<0.01; 1.81 µgFEU /ml vs. 0.50 µgFEU /ml, p<0.01; 152.9 % vs. 85.6 %, p<0.001; 32.1 g/L vs. 40.50 g/L, p<0.001). The patients were divided into two groups: 40 patients with CRP levels over than 10 mg/L and 38 with CRP levels in normal range. These parameters showed significant differences between patients with elevated CRP and patients with normal CRP levels. CRP and IL-6 correlated positively with Lp(a), (r = 0.62, p < 0.001; r=0.54, p<0.001), fibrinogen, (r = 0.63, p < 0.001; r = 0.49, p<0.01) D dimer (r = 0.72, p<0.001; r = 0.55, p<0.01), vWF (r = 0.76, p<0.01; r = 0.63, p<0.001) and negatively with serum albumin (r = -0.80, p<0.01; r = -0.60, p<0.001), in patients with elevated CRP, but not in patients with normal CRP levels and controls. CONCLUSION: According to the results hemodialysis patients with increased inflammatory markers, have the elevated Lp(a) and procoagulant markers and the greater risk for atherosclerotic cardiovascular disease.

The importance of determining procalcitonin and C reactive protein in different stages of sepsis.

Rapid and early diagnosis of systemic infections is very important for acting on time with an adequate therapy. The aim of this study is to determine the diagnostic importance of procalcitonin (PCT) and C-reactive protein (CRP) of bacterial infections in different stages of sepsis.PCT and CRP have been determined in 45 newborns, 1-21 days of age, with different stages of sepsis, in the centre for prematurely born neonates. These parameters have also been determined for control group, in which there were 10 healthy newborns. Procalcitonin values were significantly increased in neonates with septic shock (92,5 ng/mL; 6,06-200 ng/mL) compared to the systemic inflammatory response syndrome- SIRS (41 ng/mL; 0,28-200 ng/mL), neonatal sepsis (10,26 ng/mL; 1,08-111,3 ng/mL), neonatal sepsis and purulent meningitis (9,80 ng/mL; 4,3-18,9 ng/mL). The control group values were lower than 0,5 ng/mL. CRP is increased without statistical differences in all stages of sepsis in newborns with septic shock (93,2 mg/L; 6,0-196 mg/L) in cases with SIRS (45,64 mg/L; 6,0-147 mg/L), neonatal sepsis (70,02 mg/L; 6-177 mg/L), neonatal sepsis and purulent meningitis (61,98 mg/L; 24-192 mg/L). The average values for the control group were 4,7 mg/L. Procalcitonin is increased in all stages of sepsis with higher values in the septic shock. The increase of PCT levels is related to the severity, course of infection and prognosis of disease.