Janusz Gadzinowski
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Previous Organizations / Institutes
The organizations / institutes from the scholar's other articles in the past ten years
Research Subjects
Research Interests
Janusz Gadzinowski has a total of 395 co-authors. Here are the top co-authors by number of shared publications:
Marta Szymankiewicz
24 shared publications- Dawid Szpecht
Department of Neonatology, Poznań University of Medical Sciences, Poznań, Poland
13 shared publications M Szymankiewicz
Chair and Department of Neonatology, Poznań University of Medical Sciences, Poznań, Poland
11 shared publications- Ewa Gulczyńska
Department of Neonatology, Neonatal Intensive Care Unit, and Neonatal Pathology, Polish Mother’s Memorial Hospital—Research Institute, 93-338 Łódź, Poland
9 shared publications - Ewa Helwich
Klinika Neonatologii i Intensywnej Terapii Noworodka, Instytut Matki i Dziecka, Warszawa, Polska
9 shared publications - Jennifer Zeitlin
Obstetric, Perinatal, Paediatric and Lifecourse Epidemiology (OPPaLE) team, Centre for Research in Epidemiology and Statistics (CRESS) UMR1153, INSERM, Paris, France
8 shared publications
Latest Publications
- 1 April 2022
- Published by Elsevier in The Journal of Pediatrics
- Vol. 243, 69-77.e9
High Healthcare Use at Age 5 Years in a European Cohort of Children Born Very Preterm
- 1 April 2022
- Published by Elsevier in The Journal of Pediatrics
- Vol. 243, 69-77.e9
High Healthcare Use at Age 5 Years in a European Cohort of Children Born Very Preterm
- 3 August 2018
- Published by Wiley in Pediatrics International
- Vol. 60 (10) , 948-953
Percentile charts of twin birthweight
Introduction Birth weight of multiples is naturally lower than that of singletons. Since the incidence of twin pregnancy has risen in recent years, it seems reasonable to create standards of birth weight separately for twins. This could help in the objective assessment of small and large for gestational age twin newborns. Aim The main goal of the study is to construct and present up‐to‐date birth weight references. Material and method The presented percentile charts for twins are based on a cohort retrospective study of 757 pairs of twins (767 boys and 709 girls) born between weeks 25 and 39 of gestation. Average values and standard deviations were calculated for the subsequent weeks of gestation. Percentiles were read for the subsequent gestational age. The obtained curves were smoothed with a fifth degree polynomial function. The significance of differences between the 50th percentile values for twins and singletons was estimated using a median test. Results In both sexes, a continuous observable trend occurs of a significantly lower average birth weight for twins. Differences increase with increasing gestational age and are greater in girls. Values estimated for the 50th percentile of twins were greater than values estimated for the 10th percentile of singletons. Our results can support the notion of discordant growth as a physiological adaptation that promotes maturity. Conclusions Percentile charts for singletons are not applicable for twins. This indicates the importance of applying separate percentile charts for twins, enabling objective evaluation of their health status and identifying deviations from normality.
- 3 August 2018
- Published by Wiley in Pediatrics International
- Vol. 60 (10) , 948-953
Percentile charts of twin birthweight
Introduction Birth weight of multiples is naturally lower than that of singletons. Since the incidence of twin pregnancy has risen in recent years, it seems reasonable to create standards of birth weight separately for twins. This could help in the objective assessment of small and large for gestational age twin newborns. Aim The main goal of the study is to construct and present up‐to‐date birth weight references. Material and method The presented percentile charts for twins are based on a cohort retrospective study of 757 pairs of twins (767 boys and 709 girls) born between weeks 25 and 39 of gestation. Average values and standard deviations were calculated for the subsequent weeks of gestation. Percentiles were read for the subsequent gestational age. The obtained curves were smoothed with a fifth degree polynomial function. The significance of differences between the 50th percentile values for twins and singletons was estimated using a median test. Results In both sexes, a continuous observable trend occurs of a significantly lower average birth weight for twins. Differences increase with increasing gestational age and are greater in girls. Values estimated for the 50th percentile of twins were greater than values estimated for the 10th percentile of singletons. Our results can support the notion of discordant growth as a physiological adaptation that promotes maturity. Conclusions Percentile charts for singletons are not applicable for twins. This indicates the importance of applying separate percentile charts for twins, enabling objective evaluation of their health status and identifying deviations from normality.
- 28 June 2018
- Published by BMJ in Archives of Disease in Childhood - Fetal and Neonatal Edition
- Vol. 104 (2) , F151-F158
Breastfeeding outcomes in European NICUs: impact of parental visiting policies
Objective The documented benefits of maternal milk for very preterm infants have raised interest in hospital policies that promote breastfeeding. We investigated the hypothesis that more liberal parental policies are associated with increased breastfeeding at discharge from the neonatal unit. Design Prospective area-based cohort study. Setting Neonatal intensive care units (NICUs) in 19 regions of 11 European countries. Patients All very preterm infants discharged alive in participating regions in 2011–2012 after spending >70% of their hospital stay in the same NICU (n=4407). Main outcome measures We assessed four feeding outcomes at hospital discharge: any and exclusive maternal milk feeding, independent of feeding method; any and exclusive direct breastfeeding, defined as sucking at the breast. We computed a neonatal unit Parental Presence Score (PPS) based on policies regarding parental visiting in the intensive care area (range 1–10, with higher values indicating more liberal policies), and we used multivariable multilevel modified Poisson regression analysis to assess the relation between unit PPS and outcomes. Results Policies regarding visiting hours, duration of visits and possibility for parents to stay during medical rounds and spend the night in unit differed within and across countries. After adjustment for potential confounders, infants cared for in units with liberal parental policies (PPS≥7) were about twofold significantly more likely to be discharged with exclusive maternal milk feeding and exclusive direct breastfeeding. Conclusion Unit policies promoting parental presence and involvement in care may increase the likelihood of successful breastfeeding at discharge for very preterm infants.
- 28 June 2018
- Published by BMJ in Archives of Disease in Childhood - Fetal and Neonatal Edition
- Vol. 104 (2) , F151-F158
Breastfeeding outcomes in European NICUs: impact of parental visiting policies
Objective The documented benefits of maternal milk for very preterm infants have raised interest in hospital policies that promote breastfeeding. We investigated the hypothesis that more liberal parental policies are associated with increased breastfeeding at discharge from the neonatal unit. Design Prospective area-based cohort study. Setting Neonatal intensive care units (NICUs) in 19 regions of 11 European countries. Patients All very preterm infants discharged alive in participating regions in 2011–2012 after spending >70% of their hospital stay in the same NICU (n=4407). Main outcome measures We assessed four feeding outcomes at hospital discharge: any and exclusive maternal milk feeding, independent of feeding method; any and exclusive direct breastfeeding, defined as sucking at the breast. We computed a neonatal unit Parental Presence Score (PPS) based on policies regarding parental visiting in the intensive care area (range 1–10, with higher values indicating more liberal policies), and we used multivariable multilevel modified Poisson regression analysis to assess the relation between unit PPS and outcomes. Results Policies regarding visiting hours, duration of visits and possibility for parents to stay during medical rounds and spend the night in unit differed within and across countries. After adjustment for potential confounders, infants cared for in units with liberal parental policies (PPS≥7) were about twofold significantly more likely to be discharged with exclusive maternal milk feeding and exclusive direct breastfeeding. Conclusion Unit policies promoting parental presence and involvement in care may increase the likelihood of successful breastfeeding at discharge for very preterm infants.
- 15 January 2018
- Published by Taylor & Francis in The Journal of Maternal-Fetal & Neonatal Medicine
- Vol. 32 (12) , 1958-1964
Severe bronchopulmonary dysplasia – incidence and predictive factors in a prospective, multicenter study in very preterm infants with respiratory distress syndrome
Background: Severe bronchopulmonary dysplasia (BPD) remains a major complication of prematurity and can have significant impact on long-term pulmonary sequelae and adverse neurodevelopmental outcomes. Objective: To assess the incidence and evaluate the predictive factors for severe BPD in very preterm infants with respiratory distress syndrome. Methods: Of the 846 premature infants born at ≤32-week gestation who developed respiratory distress syndrome (RDS), 707 infants with known oxygen dependency at 36 weeks gestational age were included in the analysis of BPD incidence. With univariate and multiple logistic regression models we evaluated the risk factors for the development of severe BPD and calculated odds ratios (ORs). Results: The overall incidence of BPD was 45.2%. Severe BPD accounted for 6%, with morbidity pertaining mainly to infants 7 days (OR 7.05, 95%CI 2.63–22.4). The protective factors were early continuous positive airway pressure (CPAP) in the univariate analysis and receiving surfactant 7 days is the most prevalent risk factor for severe BPD. CPAP initiated in the delivery room and early surfactant are key preventive measures.
- 15 January 2018
- Published by Taylor & Francis in The Journal of Maternal-Fetal & Neonatal Medicine
- Vol. 32 (12) , 1958-1964
Severe bronchopulmonary dysplasia – incidence and predictive factors in a prospective, multicenter study in very preterm infants with respiratory distress syndrome
Background: Severe bronchopulmonary dysplasia (BPD) remains a major complication of prematurity and can have significant impact on long-term pulmonary sequelae and adverse neurodevelopmental outcomes. Objective: To assess the incidence and evaluate the predictive factors for severe BPD in very preterm infants with respiratory distress syndrome. Methods: Of the 846 premature infants born at ≤32-week gestation who developed respiratory distress syndrome (RDS), 707 infants with known oxygen dependency at 36 weeks gestational age were included in the analysis of BPD incidence. With univariate and multiple logistic regression models we evaluated the risk factors for the development of severe BPD and calculated odds ratios (ORs). Results: The overall incidence of BPD was 45.2%. Severe BPD accounted for 6%, with morbidity pertaining mainly to infants 7 days (OR 7.05, 95%CI 2.63–22.4). The protective factors were early continuous positive airway pressure (CPAP) in the univariate analysis and receiving surfactant 7 days is the most prevalent risk factor for severe BPD. CPAP initiated in the delivery room and early surfactant are key preventive measures.
- Open Access
- 19 September 2017
- Published by Springer Nature in Scientific Reports
- Vol. 7 (1) , 11894
Ranibizumab after laser photocoagulation failure in retinopathy of prematurity (ROP) treatment
The purpose of this study was to investigate the anatomical and functional outcomes of the two-stage treatment of severe retinopathy of prematurity (ROP) using laser photocoagulation and intravitreal ranibizumab injection. The medical records of 53 eyes of 28 infants treated by conventional laser photocoagulation with deferred intravitreal 0.25 mg/0.025 mL ranibizumab injection were analysed. All patients had at least 11 months of follow-up. In the analysed group, the mean gestational age at birth was 25 weeks and mean birthweight was 790 g. The mean time of laser photocoagulation was 34 weeks of postmenstrual age (PMA). Ranibizumab injection was performed on average at 37 weeks of PMA. The mean time between interventions was 19 days. Retinal detachment occurred in 12 eyes (22.6%), in three children bilaterally. Visual responses were obtained in 23 of 28 treated children. Our results indicate that ranibizumab injection can be taken into consideration in the selected cases of laser photocoagulation failure. The unsatisfactory results of this study elicited a change in the ROP treatment protocol in our medical centre. The study gives an insight into anatomical and functional outcomes of ROP treatment in the Central and Eastern European population.
- 19 September 2017
- Published by Springer Nature in Scientific Reports
- Vol. 7 (1) , 11894
Open AccessRanibizumab after laser photocoagulation failure in retinopathy of prematurity (ROP) treatment
The purpose of this study was to investigate the anatomical and functional outcomes of the two-stage treatment of severe retinopathy of prematurity (ROP) using laser photocoagulation and intravitreal ranibizumab injection. The medical records of 53 eyes of 28 infants treated by conventional laser photocoagulation with deferred intravitreal 0.25 mg/0.025 mL ranibizumab injection were analysed. All patients had at least 11 months of follow-up. In the analysed group, the mean gestational age at birth was 25 weeks and mean birthweight was 790 g. The mean time of laser photocoagulation was 34 weeks of postmenstrual age (PMA). Ranibizumab injection was performed on average at 37 weeks of PMA. The mean time between interventions was 19 days. Retinal detachment occurred in 12 eyes (22.6%), in three children bilaterally. Visual responses were obtained in 23 of 28 treated children. Our results indicate that ranibizumab injection can be taken into consideration in the selected cases of laser photocoagulation failure. The unsatisfactory results of this study elicited a change in the ROP treatment protocol in our medical centre. The study gives an insight into anatomical and functional outcomes of ROP treatment in the Central and Eastern European population.
- 1 September 2017
- Published by Termedia Sp. z.o.o. in Pediatria Polska
- Vol. 92 (5) , 619-622
Acrofacial dysostosis suggesting Nager syndrome in newborn – Diagnostic and therapeutic difficulties
- 1 September 2017
- Published by Termedia Sp. z.o.o. in Pediatria Polska
- Vol. 92 (5) , 619-622
Acrofacial dysostosis suggesting Nager syndrome in newborn – Diagnostic and therapeutic difficulties
- Open Access
- 2 August 2017
- Published by Springer Nature in Molecular and Cellular Biochemistry
- Vol. 439 (1-2) , 53-63
Candidate gene analysis in pathogenesis of surgically and non-surgically treated necrotizing enterocolitis in preterm infants
Necrotizing enterocolitis (NEC) is one of the most severe and unpredictable complications of prematurity. There are two possible mechanisms involved in the pathogenesis of NEC: individual inflammatory response and impaired blood flow in mesenteric vessels with secondary ischemia of the intestine. The aim of this study was to evaluate the possible relationship between polymorphisms: Il-1β 3953C>T, Il-6 −174G>C and −596G>A, TNFα −308G>A, and 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist (Il-1RN VNTR 86 bp) and three polymorphisms that may participate in arteries tension regulation and in consequence in intestine blood flow impairment: eNOS (894G>T and −786T>C) and END-1 (5665G>T) and NEC in 100 infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. In study population, 22 (22%) newborns developed NEC. Surgery-requiring NEC was present in 7 children. Statistical analysis showed 20-fold higher prevalence of NEC in infants with the genotype TT [OR 20 (3.71–208.7); p = 0.0004] of eNOS 894G>T gene polymorphism. There was a higher prevalence of allele C carriers of eNOS 786T>C in patients with surgery-requiring NEC [OR 4.881 (1.33–21.99); p = 0.013]. Our investigation did not confirm any significant prevalence for NEC development in another studied genotypes/alleles. This study confirms the significant role of polymorphisms that play role in intestine blood flow. Identifying gene variants that increase the risk for NEC development may be useful in screening infants with inherent vulnerability and creating strategies for individualized care.
- 2 August 2017
- Published by Springer Nature in Molecular and Cellular Biochemistry
- Vol. 439 (1-2) , 53-63
Open AccessCandidate gene analysis in pathogenesis of surgically and non-surgically treated necrotizing enterocolitis in preterm infants
Necrotizing enterocolitis (NEC) is one of the most severe and unpredictable complications of prematurity. There are two possible mechanisms involved in the pathogenesis of NEC: individual inflammatory response and impaired blood flow in mesenteric vessels with secondary ischemia of the intestine. The aim of this study was to evaluate the possible relationship between polymorphisms: Il-1β 3953C>T, Il-6 −174G>C and −596G>A, TNFα −308G>A, and 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist (Il-1RN VNTR 86 bp) and three polymorphisms that may participate in arteries tension regulation and in consequence in intestine blood flow impairment: eNOS (894G>T and −786T>C) and END-1 (5665G>T) and NEC in 100 infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. In study population, 22 (22%) newborns developed NEC. Surgery-requiring NEC was present in 7 children. Statistical analysis showed 20-fold higher prevalence of NEC in infants with the genotype TT [OR 20 (3.71–208.7); p = 0.0004] of eNOS 894G>T gene polymorphism. There was a higher prevalence of allele C carriers of eNOS 786T>C in patients with surgery-requiring NEC [OR 4.881 (1.33–21.99); p = 0.013]. Our investigation did not confirm any significant prevalence for NEC development in another studied genotypes/alleles. This study confirms the significant role of polymorphisms that play role in intestine blood flow. Identifying gene variants that increase the risk for NEC development may be useful in screening infants with inherent vulnerability and creating strategies for individualized care.
- Open Access
- 29 June 2017
- Published by Springer Nature in Child's Nervous System
- Vol. 33 (11) , 1905-1916
The significance of polymorphisms in genes encoding Il-1β, Il-6, TNFα, and Il-1RN in the pathogenesis of intraventricular hemorrhage in preterm infants
Introduction Intraventricular hemorrhage (IVH) is a significant morbidity seen in very low birth weight infants. Genes related to inflammation may be risk factors for IVH. Material and methods We examined five polymorphisms for an association with IVH in 100 preterm infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities. These polymorphisms include interleukin-1β 3953 C>T, interleukin-6 −174G>C and −596G>A, tumor necrosis factor −308 G>A, and 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist (Il -1RN 86 bp VNTR). Results In our study population, 45 (45%) infants developed IVH, including 15 (33.33%) with stage 1, 19 (42.22%) with stage 2, 8 (17.77%) with stage 3, and 3 (6.66%) with stage 4. In contrast to the previously published data, the prevalence of IVH did not vary between infants with different IL-6 and TNFα alleles and genotypes. Our novel investigations in Il-1 +3953 C>T and Il-1RN 86 bp VNTR polymorphism did not show any significant link between those alleles or genotypes and IVH. Conclusions IVH is a significant problem for preterm infants. In addition to little progress in preventing IVH in preterm babies, substantial research that are focused on understanding the etiology, mechanism and risk factors for IVH are imperative. In the era of personalized medicine, identification of genetic risk factors creates opportunities to generate preventative strategies. Further studies should be performed to confirm the role of genetic factors in etiology and pathogenesis of IVH.
- 29 June 2017
- Published by Springer Nature in Child's Nervous System
- Vol. 33 (11) , 1905-1916
Open AccessThe significance of polymorphisms in genes encoding Il-1β, Il-6, TNFα, and Il-1RN in the pathogenesis of intraventricular hemorrhage in preterm infants
Introduction Intraventricular hemorrhage (IVH) is a significant morbidity seen in very low birth weight infants. Genes related to inflammation may be risk factors for IVH. Material and methods We examined five polymorphisms for an association with IVH in 100 preterm infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities. These polymorphisms include interleukin-1β 3953 C>T, interleukin-6 −174G>C and −596G>A, tumor necrosis factor −308 G>A, and 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist (Il -1RN 86 bp VNTR). Results In our study population, 45 (45%) infants developed IVH, including 15 (33.33%) with stage 1, 19 (42.22%) with stage 2, 8 (17.77%) with stage 3, and 3 (6.66%) with stage 4. In contrast to the previously published data, the prevalence of IVH did not vary between infants with different IL-6 and TNFα alleles and genotypes. Our novel investigations in Il-1 +3953 C>T and Il-1RN 86 bp VNTR polymorphism did not show any significant link between those alleles or genotypes and IVH. Conclusions IVH is a significant problem for preterm infants. In addition to little progress in preventing IVH in preterm babies, substantial research that are focused on understanding the etiology, mechanism and risk factors for IVH are imperative. In the era of personalized medicine, identification of genetic risk factors creates opportunities to generate preventative strategies. Further studies should be performed to confirm the role of genetic factors in etiology and pathogenesis of IVH.
- Open Access
- 8 June 2017
- Published by Termedia Sp. z.o.o. in Central European Journal of Immunology
- Vol. 42 (3) , 287-293
The significance of IL-1β +3953C>T, IL-6 -174G>C and -596G>A, TNF-α -308G>A gene polymorphisms and 86 bp variable number tandem repeat polymorphism of IL-1RN in bronchopulmonary dysplasia in infants born before 32 weeks of gestation
Introduction: Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects primarily preterm infants. Genetic factors are also taken into consideration in the pathogenesis of BPD. Genetic predispositions to higher production of inflammation mediators seem to be crucial. Material and methods: The aim of this study was to evaluate the possible relationship between polymorphisms: interleukin-1β +3953 C>T, interleukin-6 -174 G>C and -596 G>A, tumour necrosis factor -308 G>A and interleukin-1RN VNTR 86bp and the occurrence of BPD in a population of 100 preterm infants born from singleton pregnancy, before 32+0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. Results: In the study population BPD was diagnosed in 36 (36%) newborns. Among the studied polymorphisms we found the higher prevalence for BPD developing of the following genotypes: 1/2 (OR 1.842 [0.673-5.025] and 2/2 IL-1RN (OR 1.75 [0.418-6.908] 86bpVNTR; GC (2.222 [0.658-8.706]) and CC IL-6 -174G>C (1.6 [0.315-8.314]) and GA (2.753 [0.828-10.64]) and AA (1.5 [0.275-8.067] IL-6 -596G>A), GA 1.509 (0.515-4.301) TNF-α -308G>A. However, these finding were not statistically significant. Conclusions: Genetic factors are undeniably involved in the pathogenesis of BPD. In the times of individualised therapy finding genes responsible for BPD might allow the development of new treatment strategies. A new way of specific therapy could ensure the reduction of complications connected with BPD and treatment costs.
- 8 June 2017
- Published by Termedia Sp. z.o.o. in Central European Journal of Immunology
- Vol. 42 (3) , 287-293
Open AccessThe significance of IL-1β +3953C>T, IL-6 -174G>C and -596G>A, TNF-α -308G>A gene polymorphisms and 86 bp variable number tandem repeat polymorphism of IL-1RN in bronchopulmonary dysplasia in infants born before 32 weeks of gestation
Introduction: Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects primarily preterm infants. Genetic factors are also taken into consideration in the pathogenesis of BPD. Genetic predispositions to higher production of inflammation mediators seem to be crucial. Material and methods: The aim of this study was to evaluate the possible relationship between polymorphisms: interleukin-1β +3953 C>T, interleukin-6 -174 G>C and -596 G>A, tumour necrosis factor -308 G>A and interleukin-1RN VNTR 86bp and the occurrence of BPD in a population of 100 preterm infants born from singleton pregnancy, before 32+0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. Results: In the study population BPD was diagnosed in 36 (36%) newborns. Among the studied polymorphisms we found the higher prevalence for BPD developing of the following genotypes: 1/2 (OR 1.842 [0.673-5.025] and 2/2 IL-1RN (OR 1.75 [0.418-6.908] 86bpVNTR; GC (2.222 [0.658-8.706]) and CC IL-6 -174G>C (1.6 [0.315-8.314]) and GA (2.753 [0.828-10.64]) and AA (1.5 [0.275-8.067] IL-6 -596G>A), GA 1.509 (0.515-4.301) TNF-α -308G>A. However, these finding were not statistically significant. Conclusions: Genetic factors are undeniably involved in the pathogenesis of BPD. In the times of individualised therapy finding genes responsible for BPD might allow the development of new treatment strategies. A new way of specific therapy could ensure the reduction of complications connected with BPD and treatment costs.
- Open Access
- 3 June 2017
- Published by Springer Nature in Child's Nervous System
- Vol. 33 (7) , 1201-1208
The role of FV 1691G>A, FII 20210G>A mutations and MTHFR 677C>T; 1298A>C and 103G>T FXIII gene polymorphisms in pathogenesis of intraventricular hemorrhage in infants born before 32 weeks of gestation
Background Congenital thrombophilia is associated with an increased intraventricular hemorrhage (IVH) risk among newborns, but it may also play a protective role. The role of genetic polymorphisms involved in the coagulation pathway of IVH pathogenesis is probably a consequence of an increased risk of thrombosis in the fine blood vessels in the germinal matrix region. Material and methods The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities. Results IVH developed 45 (45%) infants, including 15 (33.33%) diagnosed with IVH stage I, 20 (42.22%) with stage II, 8 (17.77%) with stage III, and 3 (6.66%) with stage IV. Analysis showed a prevalence 4.5 times higher of IVH stages II to IV in infants with the genotype CC (OR 4511 (1147–17.75); p = 0.026) of MTHFR 1298A>C gene polymorphism. Our investigation did not confirm any significant prevalence of IVH development in other studied mutations/polymorphisms. Conclusions This study confirmed that the MTHFR 1298A>C polymorphism is associated with the risk of IVH. IVH is a significant problem for preterm infants. In addition to little progress in preventing IVH in preterm babies, substantial research that is focused on understanding the etiology, mechanism, and risk factors for IVH is imperative. In the era of personalized medicine, identification of genetic risk factors creates opportunities to generate preventative strategies.
- 3 June 2017
- Published by Springer Nature in Child's Nervous System
- Vol. 33 (7) , 1201-1208
Open AccessThe role of FV 1691G>A, FII 20210G>A mutations and MTHFR 677C>T; 1298A>C and 103G>T FXIII gene polymorphisms in pathogenesis of intraventricular hemorrhage in infants born before 32 weeks of gestation
Background Congenital thrombophilia is associated with an increased intraventricular hemorrhage (IVH) risk among newborns, but it may also play a protective role. The role of genetic polymorphisms involved in the coagulation pathway of IVH pathogenesis is probably a consequence of an increased risk of thrombosis in the fine blood vessels in the germinal matrix region. Material and methods The aim of this study was to evaluate the possible relationship between Factor V (FV) 1691G>A, Factor II (FII) 20210G>A mutations and methylenetetrahydrofolate reductase (MTHFR) 677C>T; 1298A>C and Factor XIII (FXIII) 103G>T gene polymorphisms and the occurrence of IVH in 100 infants born from 24 + 0 to 32 + 0 weeks of gestation, born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroid therapy, and without congenital abnormalities. Results IVH developed 45 (45%) infants, including 15 (33.33%) diagnosed with IVH stage I, 20 (42.22%) with stage II, 8 (17.77%) with stage III, and 3 (6.66%) with stage IV. Analysis showed a prevalence 4.5 times higher of IVH stages II to IV in infants with the genotype CC (OR 4511 (1147–17.75); p = 0.026) of MTHFR 1298A>C gene polymorphism. Our investigation did not confirm any significant prevalence of IVH development in other studied mutations/polymorphisms. Conclusions This study confirmed that the MTHFR 1298A>C polymorphism is associated with the risk of IVH. IVH is a significant problem for preterm infants. In addition to little progress in preventing IVH in preterm babies, substantial research that is focused on understanding the etiology, mechanism, and risk factors for IVH is imperative. In the era of personalized medicine, identification of genetic risk factors creates opportunities to generate preventative strategies.