Hybrid Stent Implantation Into Right Ventricular Outflow Tract in a Newborn With Tetralogy of Fallot.

A case is presented of a newborn with tetralogy of Fallot and aortic coarctation. Progressive right ventricular outflow tract (RVOT) obstruction required urgent surgical therapy. Coronary artery crossing the outflow tract made ventriculotomy impossible. Hybrid RVOT stent implantation was performed, providing effective pulmonary flow and enabling postponing of corrective jumping graft implantation.

Reference Ranges of Glycemic Variability in Infants after Surgery-A Prospective Cohort Study.

We aimed to define reference ranges of glycemic variability indices derived from continuous glucose monitoring data for non-diabetic infants during post-operative intensive care treatment after cardiac surgery procedures. We performed a prospective cohort intervention study in a pediatric intensive care unit (PICU). Non-diabetic infants aged 0-12 months after corrective cardiovascular surgery procedures were fitted upon arrival to the PICU with a continuous glucose monitoring system (iPro2, Medtronic, Minneapolis, MN, USA). Thirteen glycemic variability indices were calculated for each patient. Complete recordings of 65 patients were collected on the first postoperative day. During the first three postsurgical days 5%, 24% and 43% of patients experienced at least one hypoglycemia episode, and 40%, 10% and 15%-hyperglycemia episode, respectively, in each day. Due to significant differences between the first postoperative day (mean glycemia 130 ± 31 mg/dL) and the second and third day (105 ± 18 mg/dL, 101 ± 22.2 mg/dL; p < 0.0001), we proposed two separate reference ranges-for the acute and steady state patients. Thus, for individual glucose measurements, we proposed a reference range between 85 and 229 mg/dL and 69 and 149 mg/dL. For the mean daily glucose level, ranges between 122 and 137 mg/dL and 95 and 110 mg/dL were proposed. In conclusion, rt-CGM revealed a very high likelihood of hyperglycemia in the first postsurgical day. The widespread use of CGM systems in a pediatric ICU setting should be considered as a safeguard against dysglycemic episodes; however, reference ranges for those patients should be different to those used in diabetes care.

Early results of aortic arch reconstruction and bilateral pulmonary artery banding: modification of the Norwood operation for treatment of hypoplastic left heart syndrome.

BACKGROUND: In the period from 2003 to the end of 2015, 96 Norwood I procedures were performed in the Paediatric Heart Surgery Department in Katowice, Poland, in children with hypoplastic left heart syndrome (HLHS). AIM: This paper presents a retrospective analysis of early surgical results. METHODS: The patients consisted of two groups: group I included 59 children operated on in the years 2003-2012, in whom the stage I Norwood procedure with the Sano modification was performed with the aortic arch reconstructed by use of a ho-mogenous pulmonary artery patch or a bovine pericardial patch. Group II included 37 children after our modification of the Norwood I procedure, in which the aortic arch was reconstructed with an extracellular matrix patch and bilateral pulmonary artery banding was done. RESULTS: Aortic cross-clamping time was significantly shorter in group II (mean 52; range 38-62 min) than in group I (mean 57; range 39-72 min; p < 0.009). Eighteen (30.5%) children in group I and six (16.2%) in group II died. Although this dif-ference did not reach statistical significance (p = 0.12), it suggested that improved outcomes with the modified procedure are possible. The cause of death in group I was significantly more frequently due to massive postoperative bleeding (n = 6; 33.3%) than in group II (n = 1; 16.7%; p = 0.046). CONCLUSIONS: The introduction of this new surgical technique reduced postoperative bleeding rates, shortened the operation time, and might improve the mortality rate in the first-stage surgical treatment of children with HLHS.

Preoperative single ventricle function determines early outcome after second-stage palliation of single ventricle heart.

BACKGROUND: Second-stage palliation with hemi-Fontan or bidirectional Glenn procedures has improved the outcomes of patients treated for single-ventricle heart disease. The aim of this study was to retrospectively analyze risk factors for death after second-stage palliation of single-ventricle heart and to compare therapeutic results achieved with the hemi-Fontan and bidirectional Glenn procedures. MATERIAL AND METHODS: We analyzed 60 patients who had undergone second-stage palliation for single-ventricle heart. Group HF consisted of 23 (38.3%) children who had been operated with the hemi-Fontan method; Group BDG consisted of 37 (61.7%) who had been operated with the bidirectional Glenn method. The analysis focused on 30-day postoperative mortality rates, clinical and echocardiographic data, and early complications. RESULTS: The patients' ages at the time of repair was 33 ± 11.2 weeks; weight was 6.7 ± 1.2 kg. The most common anatomic subtype was hypoplastic left heart syndrome, in 36 (60%) patients. The early mortality rate was 13.3%. Significant preoperative atrioventricular valve regurgitation, single-ventricle heart dysfunction, pneumonia/sepsis, and arrhythmias were associated with higher mortality rates after second-stage palliation. Multivariate analysis identified significant preoperative single-ventricle heart dysfunction as an independent predictor of early death after second-stage palliation. No differences were found in the analyzed variables after bidirectional Glenn compared with hemi-Fontan procedures. CONCLUSION: Significant preoperative atrioventricular valve regurgitation, arrhythmias and pneumonia/sepsis are closely correlated with mortality in patients with single-ventricle heart after second-stage palliation. Preoperative significant single-ventricle heart dysfunction is an independent mortality predictor in this group of patients. There are no differences in clinical, echocardiographic data, or outcomes in patients treated with the hemi-Fontan compared with bidirectional Glenn procedures.

Association of rs6166 polymorphism with FSH receptor transcript variants and steroid production in human granulosa cell cultures.

Follicle stimulating hormone receptor (FSHR) genetic variation at position 2039 A > G (rs6166, p.Asn680Ser) was repetitively shown to correspond to the measures of ovarian sensitivity and the outcomes of gonadotropin stimulation. However, to date, there has been no study revealing the mechanisms behind the associations observed. The aim of the present research was to investigate the relationship between rs6166 and mRNA expression of FSHR-dependent genes such as LHCGR, CYP19A1, and FSHR itself with particular reference to the FSHR transcript variants (deletions of exon 2, 6, and 9 and insertion of a novel exon between exons 8 and 9) in the cell culture model. Steroid production and its dependency on FSHR genotype were also assessed. A total of 22 normoovulatory patients undergoing IVF treatment were recruited. Granulosa cells were obtained by ovary puncture and cultured for 7 days to regain responsiveness to FSH in a gonadotropin-free medium. Stimulation was carried out for 24 hours in a serum-depleted environment using 0.5 UI/l rhFSH. Gene expression was assessed by real-time PCR and genotype was determined by allele-specific PCR. The distribution of p.Asn680Ser genotypes was as follows: 10 homozygotes Asn/Asn, 8 heterozygotes Asn/Ser, and 4 homozygotes Ser/Ser. Expression of total FSHR in all samples studied increased by a mean factor of 1.9 (95% CI: 0.39-11.53, p < 0.001) upon stimulation. All of the analyzed FSHR transcript variants were detectable in non-stimulated and stimulated cells. The only distinct transcript that followed up-regulation was deletion of exon 2. Homozygotes Asn/Asn tended to have higher rhFSH-induced expression of FSHR as compared to the carriers of Ser/Ser genotype. Relative expression of LHCGR and CYP19A1 although up-regulated showed no significant difference with respect to the FSHR genotype. Variable modulation of FSHR expression by its own ligand is likely to explain different clinical behavior of patients with FSHR genetic variants. The putative contribution of rs6166 requires further investigation.

Evaluation of factors associated with the nutritional mixture leading to liver complications in patients treated by means of parenteral nutrition at home.

UNLABELLED: The major problem of total parenteral treatment consists in the balancing of the source and dose of the nutritional mixture, so as to not deepen malnutrition with a positive impact on the patients' organism. The aim of the study was to evaluate selected factors that induce hepato-biliary complications in patients treated by means of parenteral nutrition at home. MATERIAL AND METHODS: The retrospective study comprised 70 patients with biochemistry performed every three months. Considering statistical analysis patients were allocated to four groups, depending on the period of treatment. Group A analysis results were based on the activity of aminotransferases, group B on the activity of bilirubin. Both groups A and B were additionally divided into group I where we assigned normal values of control lab results, and group II with improper results after treatment. RESULTS: Differences between groups Ia vs IIa were presented on the basis of the daily supply of glucose: mean- 2.52 vs 3.49 g/kg (p=0.000003), glucose/lipids ratio: mean- 3.76 vs 4.90 g/kg (p=0.0001), daily non-protein energy: mean- 16.73 vs 21.06 kcal/kg (p=0.0001). Differences between groups Ib vs IIb were presented on the basis of the daily supply of glucose: mean- 2.76 vs 3.46 g/kg (p=0.0007), glucose/lipids ratio: mean- 3.98 vs 5.13 g/kg (p=0.01), daily non-protein energy: mean-17.96 vs 20.36 kcal/kg (p=0.04). Based on the above-mentioned analysis the main goal in the prevention of hepatic complications should lead to the reduction of the dose of glucose. Increased glucose supply leads to increased number of hepato-biliary complications. CONCLUSIONS: Based on obtained results we were able to conclude that in case of liver complications associated with parenteral nutrition, proper management consists in the modification of nutritional mixtures (reduction in the daily glucose supply and change in the proportions of extra-protein energy). Such management has the greatest clinical effect. When determining the composition of the nutritional mixture one should adjust the glucose supply, so as to offset both sources of extra-protein energy.

[Polymorphism rs9939609 of FTO gene is related to the body mass index in children from Podlaskie voievodship]. / Polimorfizm rs9939609 genu FTO jest zwiazany ze wskaznikiem masy ciala dzieci z wojewodztwa podlaskiego.

INTRODUCTION: The presence of obesity and the features of metabolic syndrome plays a predictive role in cardiovascular diseases (CVD) in adults. It seems reasonable to seek new risk factors in the development of CVD. Defining the genetic background of obesity could help to select patients from a high risk group and help to introduce prevention and treatment, which, in consequence, lead to the lowering of morbidity and mortality. One of the genes probably related to the body weight is the Fat Mass and Obesity Associated Gene (FTO). THE AIM: of the study was an attempt to assess the relationship between the FTO polymorphism rs9939609 and body mass index in children from Podlaskie voievodship. MATERIAL AND METHODS: 405 children aged 4-18 were selected for the study. The examination included body mass index, waist circumference, blood pressure and lipid profile analysis. FTO rs9939609 polymorphism was assessed using a discrimination allele method with the application of ABI 7900HT Fast Real-Time PCR System. RESULTS: FTO rs9939609 polymorphism was related to the standarized body mass index and the AA genotype carriers had a higher risk of obesity. This polymorphism was also associated with waist circumference, systolic blood pressure and triglycerides concentration. It was not correlated with diastolic blood pressure and total HDL- and LDL-cholesterol concentrations. CONCLUSIONS: Our results demonstrate that rs9939609 FTO gene polymorphism is related to the body mass index in children. Our results should be confirmed in studies on a large cohort of healthy Polish children.

Response to prednisone in relation to NR3C1 intron B polymorphisms in childhood nephrotic syndrome.

UNLABELLED: The variation in time required to obtain cessation of proteinuria in children with nephrotic syndrome (NS) represents one aspect of the variations shown by these children in response to glucocorticoid (GC) treatment. Polymorphism of the GC receptor gene (NR3C1) has been postulated as one factor that would partially explain differences in both the clinical presentation and the reaction to treatment in GC-treated diseases. We genotyped 118 children diagnosed with NS who initially responded to oral GC treatment [steroid-responsive nephrotic syndrome (SRNS) group] and 136 healthy children for three intron B single nucleotide polymorphisms of NR3C1, namely Bcl I (C/G), rs33389 (C/T) and rs33388 (A/T). In the SRNS group, we performed a three-marker haplotype analysis of NR3C1 in relation to the response to prednisone, represented as time to proteinuria resolution (TPR) as categorical and ordinal variable. RESULTS: The distribution of individual polymorphisms and three-marker haplotypes was similar in healthy children and SRNS patients (all p values >0.05). The GTA haplotype was associated with a higher GC sensitivity, as determined by TPR, and was found to be more prevalent in early (response 7 days) prednisone responders (27.7 vs. 14.5%, hap-score = -2.22, p = 0.05 adjusted for biopsy results). These results are in agreement with those reported earlier on an association of intron B haplotypes with GC sensitivity. The distribution of GC polymorphisms among the residents of north-eastern Poland was also determined.

MDR-1 gene polymorphisms and clinical course of steroid-responsive nephrotic syndrome in children.

The study was aimed at investigating the association between MDR-1 genetic polymorphisms [C1236T, G2677T(A), C3435T] and parameters describing the clinical course and treatment response of childhood steroid-responsive nephrotic syndrome (SRNS). Three MDR-1 genetic markers were analyzed in 108 children diagnosed with SRNS and in 135 healthy controls with neither allergic nor renal disease. All subjects were genotyped by PCR-restriction fragment length polymorphism (RFLP) analysis, and an EM algorithm-based analysis was utilized to estimate haplotype frequencies. As expected, there was no difference in genotypic and allelic distribution between and among SRNS patients and healthy children. However, all individual polymorphisms were strongly associated with time to response to initial prednisone therapy. The frequencies of the mutated alleles were higher in late responders (time to remission: >7 days) to oral prednisone (0.53, 0.52,0.66) than in early responders (time to remission: <7 days; 0.24, 0.19, 0.32), with all p values <0.001 for positions 1236, 2677 and 3435, respectively). Odds ratios (ORs) reflecting the strength of the associations were as follows: 6.79 (95% CI:1.96- 23.54) for 1236 T/T, 13.7 (95% CI:2.78-67) for 2677 T/T and 9.92 (95% CI: 3.01-32.71) for 3435 T/T as compared to the respective-wild type homozygotes. The TTT haplotype was similarly found to be significantly associated with late oral steroid response (0.49 vs. 0.19, p=0.0003). Variants 1236T, 2677TA and 3435T identify patients that respond slower to oral prednisone. Although the functional properties of the substitutions investigated here are still to be determined, our findings may be a small step toward the optimization of immunosuppressive therapy in SRNS children.

Expression of P-glycoprotein in lymphocytes from children with nephrotic syndrome, depending on their steroid response.

The aim of this study was to examine the expression of P-glycoprotein (P-gp) in CD3 lymphocytes of children with nephrotic syndrome (NS) in relation to their clinical response to glucocorticoid (GC) treatment. The examinations were performed on two groups. The study group (I) consisted of 88 children aged 2.0-20.0 years with NS, divided according to their clinical response to GC: NFR-non-frequent relapse NS; FR-frequent relapse NS; SD-steroid-dependent NS. The control group (II) consisted of 18 healthy children never treated with GC. We measured P-gp expression on CD3 lymphocytes of patients with NS using a flow cytometry assay. The CD3/P-gp was significantly higher than in controls. The difference was higher in SD (P=0.0001) and FR - (P=0.0002) group. The difference in NFR was smaller. Mean CD3/P-gp (in percent) was twice as high in SD children than in NFR, and the difference, as between FR and NFR, was statistically significant (P<0.01). Worse response to GC or dependency may be due to overexpression of P-gp. Further examinations are necessary to establish whether increased P-gp activity is a result of MDR-1 polymorphism and to determine GC response, or to ascertain if such activity is only a result of GC therapy.

[Anemia in kidney diseases as a cardiovascular risk factor]. / Niedokrwistosc w chorobach nerek jako czynnik ryzyka chorób serca.

Cardiovascular mortality is increased in chronic kidney diseases. Patients' survival correlates with hemoglobin concentration. Anemia significantly affects cardiovascular system, especially the heart. Heart failure, anemia and chronic renal failure are mutually related. Recently, cardio-renal-anemia syndrome (CRAS) was defined. Iron replacement and EPO treatment can break the pathogenetic circle of events leading to heart failure. Increased hemoglobin concentration can also induce a positive impact on renal function. Early diagnosis and correction of anemia has a substantial role in prophylaxis of left ventricular hypertrophy in patients with chronic renal insufficiency.

[Treatment of paraproteinemia]. / Leczenie paraproteinemii.

Contemporary view on diagnosis and treatment of paraproteinemia is presented dealing particularly with nephrological implications. Treatment of multiple myeloma including new drugs is presented in details. Treatment of cryofibrinogenemia and amyloidosis are also reviewed.