Influence of Perinatal Factors on Gene Expression of IAPs Family and Main Factors of Pluripotency: OCT4 and SOX2 in Human Breast Milk Stem Cells-A Preliminary Report.

Due to their therapeutic potential, mesenchymal stem cells are the subject of intensive research on the use of their potential in the treatment of, among others, neurodegenerative diseases or immunological diseases. They are among the newest in the field of medicine. The presented study aimed to evaluate the expression of eight genes from the IAP family and the gene regulating IAP-XAF1-in stem cells derived from human milk, using the qPCR method. The relationships between the expression of genes under study and clinical data, such as maternal age, maternal BMI, week of pregnancy in which the delivery took place, bodyweight of the newborn, the number of pregnancies and deliveries, and the time elapsed since delivery, were also analyzed. The research was carried out on samples of human milk collected from 42 patients hospitalized in The Clinic of Obstetrics and Perinatology of the Independent Public Clinical Hospital No. 4, in Lublin. The conducted research confirmed the expression of the following genes in the tested material: NAIP, BIRC2, BIRC3, BIRC5, BIRC6, BIRC8, XIAP, XAF1, OCT4 and SOX2. Moreover, several dependencies of the expression of individual genes on the maternal BMI (BIRC5, XAF1 and NAIP), the time since childbirth (BIRC5, BIRC6, XAF1 and NAIP), the number of pregnancies and deliveries (BIRC2, BIRC5, BIRC6 and XAF1), the manner of delivery (XAF1 and OCT4), preterm labor (BIRC6 and NAIP) were demonstrated. Additionally, we found positive relationships between gene expression of BIRC7, BIRC8 and XAF1 and the main factors of pluripotency: SOX2 and OCT4. This work is the first to investigate the expression of genes from the IAPs family in mother's milk stem cells.

Antenatal corticosteroids and respiratory distress syndrome - the first Polish national survey.

OBJECTIVES: Our retrospective study aimed to evaluate the rate and the appropriate use of antenatal corticosteroid therapy, and their effect on the incidence and treatment of respiratory distress syndrome (RDS) and its complications. MATERIAL AND METHODS: A retrospective analysis of clinical practice in Poland was performed using standard investigating tools: a questionnaire on the frequency of using antennal corticosteroids in the selected centers, as well as neonatal data. A total of 987 newborns at ≤ 32 weeks of gestation, treated in 54 centers (including 42 tertiary and 12 secondary referral centers) over a period of 6 months in 2013, were deemed eligible. The study group consisted of 749 newborns whose mothers received antenatal steroids. The non-steroid group included 238 newborns. RESULTS: Antenatal corticosteroids were administered to 75.89% of the neonates from the study group, with 79% and 21% receiving one and two courses, respectively. Children whose mothers received prenatal steroids presented with less extensive radiographic changes typical of RDS, and less often required surfactant therapy (70% vs. 78%; p = 0.0143). In the group of children undergoing antenatal steroid therapy, the percentage of BPD was lower (13.27% vs. 18.63%) (p = 0.0881). The mortality rates were 20.91% and 10.81% in controls and the study group, respectively (p = 0.0001). CONCLUSIONS: The percentage of antenatal steroid use in secondary and tertiary referral centers in Poland is unsatisfactorily low (76%). Antenatal corticosteroids demonstrated high efficacy in decreasing severe forms of RDS, less need for surfactant therapy, and reduced BPD and mortality rates.

STRATEGIES OF USING SURFACTANT: RESULTS OF THE FIRST POLISH NATIONAL SURVEY OF DAILY PRACTICE.

BACKGROUND: The efficiency of routine practices in the management of neonatal respiratory distress syndrome (RDS) have never been systematically investigated in Poland. OBJECTIVE: To evaluate RDS treatment policies and short-term outcomes in neonatal intensive care units (NICUs). MATERIAL AND METHODS: We retrospectively analyzed medical records of premature neonates ≤ 32 weeks' gestation, diagnosed with RDS in level-2 and level-3 referral centers. Collected data: comprised clinical variables, antenatal corticosteroids, respiratory support, surfactant (SFT) policies and short-term outcomes. RESULTS: Data of 987 infants from 53 NICUs were analyzed. The median gestational age was 29 weeks (range 22-32) and birth weight 1190 g (range 340-2860). Infants requiring SFT had significantly lower exposure to antenatal corticosteroids (75%) vs. those managed without SFT (83%, p = 0.006). SFT was given to 59% infants in level-3 NICUs and 40% in level-2. There was significant variability of SFT use between level 2 and level 3 NICU. (9% to 100%). Poractant alfa was most commonly used (97%) in the median initial dose of 170 mg/kg (IQR 120-200). Single application was most frequent (79.8%). SFT administration methods were endotracheal instillation in babies maintained on mechanical ventilation (68.0%), INSURE (27.6%) and minimally-invasive delivery (MIST) 4.4%. Early rescue treatment remained core SFTstrategy (57.4% cases), while prophylaxis accounted for only 13.3% cases. CONCLUSIONS: There is considerable variation in the frequency of use of surfactant in Polish neonatal centers. Traditional intratracheal instillation with subsequent mechanical ventilation dominates, although newer methods INSURE and MIST are becoming increasingly popular. Early rescue SFT is a predominant strategy, which conforms to current standards. The rate of antenatal corticosteroids remains too low.

USING THE AUTOMATED FIO2- SPO2 CONTROL IN NEONATAL INTENSIVE CARE UNITS IN POLAND. A PRELIMINARY REPORT.

AIM: Analysis of the way in which a new method of implementing the automated control of oxygen therapy during respiratory support is applied in newborns with respiratory failure. MATERIAL, METHODS AND RESULTS: The AVEA-CLiO2 ventilator with automated FiO2- SpO2 control was used in our study of 121 newborns conducted between February 2014 and January 2015 in five neonatal intensive care units. A web-based database was used to gather information entered concurrently with using the FiO2- SpO2 control system. This included demographics, clinical status, clinical indications, as well as objective and subjective experience. Among the 121 newborns 94 were preterm and 27 were near-term (33-36 hbd). The primary indication for using the system was "routine management" of FiO2 during respiratory support and it was generally initiated within the first 2 days of life. Many of the newborns were managed with the system for more than a week. The control range was usually 90%-95% SpO2, though sometimes it was lower or wider. The control range was not related to the newborn's maturity or indication for use. The perception of more "frequent and persistent" SpO2 alarms was lower when the alarms were set loosely. There were no reports of the system not working effectively. CONCLUSIONS: We expect this first report of the routine use of automated FiO2- SpO2 control to be useful not only to other centers in Poland but also to all those adopting this important new technology. Our registry continues and we expect to have an update when we have experience with 1000 infants. Carefully controlled trials are also needed to refine the optimum use of automated FiO2- SpO2 control and to quantify its impact on neonatal outcomes.

[Influence of folic acid in primary prevention of neural tube defects]. / Wplyw pierwotnej profilaktyki kwasem foliowym na czestosc wad cewy nerwowej w województwie lubelskim.

OBJECTIVE: The aim of the study was to analyze the incidence of neural tube defects in Lublin Province between 1990 and 2000 after application of primary prevention with folic acid. MATERIAL AND METHODS: A total of 293,039 newborns were analyzed. RESULTS: Neural tube defects were diagnosed in 53 newborns. CONCLUSION: Reduction of frequency of meningocele was shown after application of primary prevention with folic acid in 1998. Meningoceles were most frequent in 1992 (1.32/1000) and in 1998 frequency of these defects was reduced and in 2000 was down to 0.62/1000 births.

Analysis of most common CFTR mutations in patients affected by nasal polyps.

Nasal polyps, a chronic inflammatory disease occurring in the nose and para-nasal sinuses, result from several different causes, including cystic fibrosis (CF). Forty-four patients affected by nasal polyps were admitted to the Department of Otolaryngology, Lublin University School of Medicine, Lublin, Poland, and screened for the most-commonly identified CFTR mutations [DeltaF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DeltaI507] by applying the INNO-LIPA CF2 test strips. None of the patients had symptoms that allowed for the diagnosis of CF, including the negative sweat test. We detected 5 of 44 (11.4%) carriers of the CFTR mutations. All patients positive for this test were heterozygous carriers of DeltaF508. In the control group, only 1 of 70 (1.4%) cases showed DeltaF508 heterozygosity. The frequency of DeltaF508 mutation herein reported was significantly higher than in the control group (P = 0.0312) and in the general Polish population as well (P = 0.0059). Our data suggest that a heterozygous manifestation of the DeltaF508 may exist in a selected group of patients affected by nasal polyps, who have no other clinical features of CF.

CFTR gene mutations in patients suffering from acute pancreatitis.

BACKGROUND: The aim of our study was to investigate the frequency of the CFTR gene mutation in a selected group of patients suffering from severe acute pancreatitis. MATERIAL/METHODS: DNA isolated from peripheral blood samples from forty-one subjects was analyzed for the eight most common CFTR gene mutations (deltaF508, G542X, G551D, R553X, 1717-1(G>A), W1282X, N1303K, deltaI507) by the reverse-hybridization technique, using INNO-LIPA CF2 test strips. The level of chloride ions in sweat samples was established using the pilocarpine iontophoresis method. RESULTS: In the study group, none of the patients harbored CFTR gene mutations. In these selected cases, the experiments were repeated twice to ensure the reliability of the results. All of the subjects had a normal level of chloride ions (range 8-38 mmol/l). Comparison with historical carriers revealed no differences between the frequency of carriers of the CFTR gene mutations in the general Polish population (4%) in comparison with the surgical patients with acute pancreatitis (p=0.26; Fisher exact test). CONCLUSIONS: We found no patients with severe acute pancreatitis who had CFTR gene mutations, suggesting that these alterations are not a risk factor for the disease in our population. Further studies are warranted to evaluate the frequency and role of rare ('mild') CFTR gene point mutations in subjects suffering from severe acute pancreatitis.

A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.

The present report describes several aspects of the relationship of mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression of the disease including several clinical vignettes from the authors' experience. The genotype-phenotype relationships in CF are complex, and are affected by many factors, including pollution, smoking, bacterial infection, malnutrition, and certain therapeutic agents. The number of CFTR mutations is growing continuously and rapidly, and more than 1,000 mutations have been discovered so far. From a genetic point of view, the deltaF508 mutation is not only the most frequently encountered but also the most severe genetic lesion for homozygotes. The great clinical variability observed in patients with CF, particularly the severity of lung disease, involvement of the pancreas, and male infertility, are beginning to be better understood through the knowledge, although incomplete, of CFTR mutations and their phenotype expressions. This knowledge has had very significant research and clinical applications in all dimensions of the CF problem. It has not only contributed to the enhancement of better diagnosis and clinical management, but it also has opened new and unanticipated lines of investigation and research.