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OBJECTIVES: Group B streptococcus (GBS) colonization among pregnant women is the leading cause of neonatal infection. Intrapartum antibiotic prophylaxis (IAP) is the most effective method to reduce the incidents of neonatal sepsis. We describe compliance with GBS management and the implementation of IAP in the context of the long-term effect of antibiotics. MATERIAL AND METHODS: The study was conducted among 249 childbearing women hospitalized between January 2022 and February 2022 at University Clinical Center in Gdansk, Poland. The data were obtained from the questionnaire and medical records. We analyzed maternal colonization with GBS, compliance with GBS screening and treatment guidelines, risk factors contributing to GBS colonization, IAP administration, and neonatal congenital infection occurrence. RESULTS: Of all patients, 240 (96.4%) were screened for GBS, 215 (89.6%) between 35-37 weeks of gestation. Fifty (20%) were GBS-positive, 184 (74%) negative, 15 (6%) had unknown GBS status. There were no significant differences between the GBS-positive and GBS-negative groups in maternal age, mode of delivery, gestational age at birth, maternal comorbidities, parity, GBS status in previous pregnancies, and the development of infection among infants of both groups, regardless of IAP administration. Of all the studied women, 158 (63.5%) received antibiotics, 91 (36.5%) did not. The study showed the low positive and the high negative predictive value of the antenatal GBS screening test. CONCLUSIONS: We found that compliance with the universal GBS screening is widespread. The management of women with absent or only partial screening test requires assessing the risk factors before administering IAP.
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Antibacterianos , Antibioticoprofilaxia , Complicações Infecciosas na Gravidez , Infecções Estreptocócicas , Streptococcus agalactiae , Humanos , Feminino , Gravidez , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/prevenção & controle , Antibioticoprofilaxia/estatística & dados numéricos , Adulto , Complicações Infecciosas na Gravidez/tratamento farmacológico , Complicações Infecciosas na Gravidez/microbiologia , Complicações Infecciosas na Gravidez/epidemiologia , Polônia , Recém-Nascido , Antibacterianos/uso terapêutico , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Fatores de Risco , Trabalho de PartoRESUMO
BACKGROUND: Breast milk is an exceptional source of nutrients for neonates, delivering a unique composition of bioactive ingredients such as immunoglobulins, hormones and oligosaccharides. Our research aimed to understand the attitude of medical staff towards milk donation and its use in the NICU (Neonatal Intensive Care Unit) and to determine the influence the milk bank has had on the feeding practices of our patients after the introduction of local Human Milk Bank (HMB). METHODS: Twelve closed-question questionnaires were distributed among employees from the Department of Neonatology and Obstetrics before and after (identical set of questions) the implementation of the HMB. The attitudes of staff towards different aspect of milk banking were recorded. RESULTS: We obtained 67 fully answered questionnaires in 2019 and 48 questionnaires in 2021. After comparing the responses, the analysis of how staff's attitudes have changed was performed. As a second step, four hundred sixty-eight neonates born consecutively in December 2018 (N.=171) and then in December 2019 (N.=297), before and after the HMB introduction, respectively, participated in the study at the Medical University of Gdansk, Poland. Patients' medical charts were retrospectively analyzed. Since the assemblage of the HMB, there has been a significant improvement in the staff's attitude towards the use of donor milk (DM) (68.7% before, 93.8% after HMB) and its safety (65.7% before, 97.9% after HMB). There was also a significant increment in feeding newborns using breast milk compared to formula milk. CONCLUSIONS: HMB allows for the collection of donor milk, matching mother's-own-milk by gestational age and stage of lactation, ensuring adequate composition for the targeted nutritional requirements of premature infants. These findings support the relevance of our study, highlighting the importance and benefits of expanding HMB worldwide and increasing education for mothers and medical staff regarding donor milk.
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Preterm birth (before 37 completed weeks of gestation) is a global health problem, remaining the main reason for neonatal mortality and morbidity. Improvements in perinatal and neonatal care in recent decades have been associated with a higher survival rate of extremely preterm infants, leading to a higher risk of long-term sequelae in this population throughout life. Numerous surveillance programs for formerly premature infants continue to focus on neurodevelopmental disorders, while long-term assessment of the impact of preterm birth and low birth weight on child growth and the associated risk of cardiovascular disease in young adults is equally necessary. This review will discuss the influence of prematurity and low birth weight on childhood growth and cardiovascular risk in children, adolescents and young adults. The risk of cardiovascular and metabolic disorders is increased in adult preterm survivors. In early childhood, preterm infants may show elevated blood pressure, weakened vascular growth, augmented peripheral vascular resistance and cardiomyocyte remodeling. Increased weight gain during the early postnatal period may influence later body composition, promote obesity and impair cardiovascular results. These adverse metabolic alterations contribute to an increased risk of cardiovascular incidents, adult hypertension and diabetes. Preterm-born children and those with fetal growth restriction (FGR) who demonstrate rapid changes in their weight percentile should remain under surveillance with blood pressure monitoring. A better understanding of lifelong health outcomes of preterm-born individuals is crucial for developing strategies to prevent cardiovascular sequelae and may be the basis for future research to provide effective interventions.
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BACKGROUND AND AIMS: 1 in 10 pregnant women is diagnosed with gestational hypertension. Increasing evidence suggests that preeclampsia, gestational diabetes and gestational hypertension may affect human breast milk's lactogenesis and percentage composition. We aimed to examine whether there is any significant influence of gestational hypertension on the composition of macronutrients in human breast milk and to assess its correlation with fetal growth. METHODS: A total of 72 breastfeeding women (34 diagnosed with gestational hypertension and 38 normotensive women during pregnancy) were recruited to the study at the Division of Neonatology, Medical University of Gdansk, between June and December 2022. Milk samples were collected between the 3rd and 6th day of lactogenesis. Samples were analyzed using the Miris HMA™ Human Milk Analyzer (Upsala, Sweden), which evaluates the milk composition's energy, fat, carbohydrate and protein quantity. In addition, we assessed the children's anthropometric measurements (birth weight, body length and head circumference at birth). We used logistic regression to estimate the adjusted odds ratio and 95% confidence interval. RESULTS: The mean (±standard deviation) macronutrient composition per 10 mL of milk in the GH group was 2.5 g (±0.9) of fat, 1.7 g (±0.3) of true protein, 7.7 g (±0.3) of carbohydrates and 63.2 g (±8.1) of energy, in the normotensive women group 1.0 g (±0.9) of fat, 1.7 g (±0.3) of true protein, 7.3 g (±0.4) of carbohydrates and 57.9 g (±8.6) of energy content, respectively. The fat composition was higher in the PIH group by a mean of 0.6 g (p < 0.005). Gestational hypertension had a positive, significant correlation with birth weight (p < 0.013) and the mother's pre-pregnancy weight (p < 0.005). CONCLUSIONS: In conclusion, we found significant differences between milk composition in postpartum women with gestational hypertension compared to healthy, normotensive women. Human milk from women with gestational hypertension was found to contain a higher composition of fat, carbohydrates and energy in comparison to healthy women. Our aim is to further evaluate this correlation, as well as to assess the growth rate of newborns in order to determine the need for individualized formulas for women with pregnancy-induced hypertension, those with poor lactogenesis and those who cannot or choose not to breastfeed.
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Hipertensão Induzida pela Gravidez , Leite Humano , Criança , Humanos , Recém-Nascido , Feminino , Gravidez , Leite Humano/metabolismo , Projetos Piloto , Peso ao Nascer , Desenvolvimento Fetal , Aleitamento Materno , CarboidratosRESUMO
INTRODUCTION: Corpus callosum abnormalities are complex, aetiologically diverse, and clinically heterogeneous conditions. Counselling parents regarding their causes and associated syndromes, and predicting the neurodevelopmental and seizure risk prognosis, is challenging. MATERIAL AND METHODS: We describe the clinical characteristics, associated anomalies, and neurodevelopmental outcomes of children with agenesis of corpus callosum (ACC). Fifty-one neonates with ACC/hypoplasia of the corpus callosum were identified over a 17-year period, and their medical records were retrospectively reviewed. RESULTS: Patients were classified into two groups depending on the presence or absence of associated abnormalities. The first group (17 patients, 33.4%) presented with isolated callosal anomalies. The second group included 34 patients (66.6%) with associated cerebral and extracerebral anomalies. We achieved an identifiable genetic aetiology in 23.5% of our cohort. Magnetic resonance imaging was performed in 28 patients (55%), and of these 39.3% had additional brain anomalies. During the study period, five patients died early in the neonatal period and four were lost to follow up. Of the 42 followed patients, 13 (31%) showed normal neurodevelopment, 13 (31%) showed mild delay, and 16 (38%) had a severe delay. Fifteen (35.7%) had epilepsy. CONCLUSIONS AND CLINICAL IMPLICATIONS: We have confirmed that callosal defects are frequently accompanied by brain and somatic anomalies. Additional abnormalities were shown to be significantly associated with developmental delay and increased risk of epilepsy. We have highlighted essential clinical features that may provide diagnostic clues to physicians and we have given examples of underlying genetic disorders. We have provided recommendations about extended neuroimaging diagnostics and widespread genetic testing that may impact upon daily clinical practice. Paediatric neurologists may therefore use our findings to help base their decisions regarding this matter.
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Encefalopatias , Corpo Caloso , Recém-Nascido , Humanos , Criança , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Retrospectivos , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Encéfalo/patologia , Encefalopatias/patologia , Imageamento por Ressonância MagnéticaRESUMO
Introduction: Ficolin-2 is a serum pattern recognition molecule, involved in complement activation via the lectin pathway. This study aimed to investigate the association of ficolin-2 concentration in cord blood serum with complications related to premature birth. Methods: 546 premature neonates were included. The concentration of ficolin-2 in cord blood serum was determined by a sandwich TRIFMA method. FCN2 genetic variants were analysed with RFLP-PCR, allele-specific PCR, Sanger sequencing or allelic discrimination using TaqMan probes method. Findings: Cord blood serum ficolin-2 concentration correlated positively with Apgar score and inversely with the length of hospitalisation and stay at Neonatal Intensive Care Unit (NICU). Multivariate logistic regression analysis indicated that low ficolin-2 increased the possibility of respiratory distress syndrome (RDS) diagnosis [OR=2.05, 95% CI (1.24-3.37), p=0.005]. Median ficolin-2 concentration was significantly lower in neonates with RDS than in premature babies without this complication, irrespective of FCN2 gene polymorphisms localised to promoter and 3'untranslated regions: for patients born <33 GA: 1471 ng/ml vs. 2115 ng/ml (p=0.0003), and for patients born ≥33 GA 1610 ng/ml vs. 2081 ng/ml (p=0.012). Ficolin-2 level was also significantly lower in neonates requiring intubation in the delivery room (1461 ng/ml vs. 1938 ng/ml, p=0.023) and inversely correlated weakly with the duration of respiratory support (R=-0.154, p<0.001). Interestingly, in the neonates born at GA <33, ficolin-2 concentration permitted differentiation of those with/without RDS [AUC=0.712, 95% CI (0.612-0.817), p<0.001] and effective separation of babies with mild RDS from those with moderate/severe form of the disease [AUC=0.807, 95% CI (0.644-0.97), p=0.0002]. Conclusion: Low cord serum ficolin-2 concentration (especially in neonates born at GA <33 weeks) is associated with a higher risk of developing moderate/severe RDS, requiring respiratory support and intensive care.
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Doenças do Recém-Nascido , Síndrome do Desconforto Respiratório do Recém-Nascido , Gravidez , Feminino , Humanos , Recém-Nascido , Soro , Recém-Nascido Prematuro , Lectinas/genética , FicolinasRESUMO
Single nucleotide polymorphisms (SNPs) localised to the promoter region of the FCN2 gene are known to influence the concentration of ficolin-2 in human serum and therefore potentially have clinical associations. We investigated the relationships between SNPs at positions −986 (A > G), −602 (G > A), −64 (A > C) and −4 (A > G) and clinical complications in 501 preterms. Major alleles at positions −986 and −64 and A/A homozygosity for both polymorphisms were less frequent among babies with very low birthweight (VLBW, ≤1500 g) compared with the reference group (OR = 0.24, p = 0.0029; and OR = 0.49, p = 0.024, respectively for A/A genotypes). A lower frequency of G/G homozygosity at position −4 was associated with gestational age <33 weeks and VLBW (OR = 0.38, p = 0.047; and OR = 0.07, p = 0.0034, respectively). The AGAG haplotype was protective for VLBW (OR = 0.6, p = 0.0369), whilst the GGCA haplotype had the opposite effect (OR = 2.95, p = 0.0249). The latter association was independent of gestational age. The AGAG/GGAA diplotype favoured both shorter gestational age and VLBW (OR = 1.82, p = 0.0234 and OR = 1.95, p = 0.0434, respectively). In contrast, AGAG homozygosity was protective for lower body mass (OR = 0.09, p = 0.0155). Our data demonstrate that some FCN2 variants associated with relatively low ficolin-2 increase the risk of VLBW and suggest that ficolin-2 is an important factor for fetal development/intrauterine growth.
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Recém-Nascido de muito Baixo Peso , Polimorfismo de Nucleotídeo Único , Humanos , Lactente , Recém-Nascido , Genótipo , Haplótipos , Regiões Promotoras Genéticas , FicolinasRESUMO
Ficolin-2 is regarded as an important innate immunity factor endowed with both lectin (carbohydrate recognition) qualities and ability to induce complement activation. The aim of this study was to investigate the association of the FCN2 3'-untranslated region (3'UTR) polymorphisms with ficolin-2 expression and perinatal complications in preterm neonates. The sequencing analysis allowed us to identify six 3'UTR polymorphisms with minor allele frequency (MAF) >1%: rs4521835, rs73664188, rs11103564, rs11103565, rs6537958 and rs6537959. Except for rs4521835, all adhered to Hardy-Weinberg expectations. Moreover, rs6537958 and rs6537959 were shown to be in perfect linkage disequilibrium (LD) with nine other genetic polymorphisms: rs7040372, rs7046516, rs747422, rs7847431, rs6537957, rs6537960, rs6537962, rs11462298 and rs7860507 together stretched on a distance of 1242 bp and very high LD with rs11103565. The 3'UTR region was shown to bind nuclear extract proteins. The polymorphisms at rs4521835 and rs73664188 were found to influence serum ficolin-2 concentration significantly. All polymorphisms identified create (together with exon 8 polymorphism, rs7851696) two haplotype blocks. Among 49 diplotypes (D1-D49) created from rs7851696 (G>T), rs4521835 (T>G), rs73664188 (T>C), rs11103564 (T>C), rs11103565 (G>A) and rs6537959 (T>A), twenty two occurred with frequency >1%. Two diplotypes: D13 (GTTTGT/GGTCGT) and D10 (GTTTGT/GGTCGA), were significantly more frequent among preterm neonates with early onset of infection and pneumonia, compared with newborns with no infectious complications (OR 2.69 and 2.81, respectively; both p<0.05). The minor (C) allele at rs73664188 was associated with an increased risk of very low (≤1500 g) birthweight (OR=1.95, p=0.042) but was associated with the opposite effect at rs11103564 (OR=0.11, p=0.005).
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Regiões 3' não Traduzidas/genética , Genótipo , Recém-Nascido Prematuro , Infecções/genética , Lectinas/genética , Pneumonia/genética , Ativação do Complemento , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Imunidade Inata , Recém-Nascido , Lectinas/sangue , Lectinas/metabolismo , Desequilíbrio de Ligação , Masculino , Polimorfismo de Nucleotídeo Único , FicolinasRESUMO
OBJECTIVE: To develop a multifactorial model that allows the prediction of bronchopulmonary dysplasia (BPD) in preterm newborns. MATERIALS AND METHODS: A single-center retrospective study of infants born below 32 + 0 weeks gestational age. We created a receiver operating characteristic curve to assess the multifactorial BPD risk and calculate the BPD risk accuracy using the area under the curve (AUC). BPD risk was categorized using a multifactorial predictive model based on the weight of the evidence. RESULTS: Of the 278 analyzed preterm newborns, 127 (46%) developed BPD. The significant risk factors for BPD in the multivariate analysis were gestational age, number of red blood cell concentrate transfusions, number of surfactant administrations, and hemodynamically significant patent ductus arteriosus. The combination of these factors determined the risk of developing BPD, with an AUC value of 0.932. A multifactorial predictive model based on these factors, weighted by their odds ratios, identified four categories of newborns with mean BPD risks of 9%, 59%, 82%, and 100%. CONCLUSION: A multifactorial model based on easily available clinical factors can predict BPD risk in preterm newborns and inform potential preventive measures.
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OBJECTIVE: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. STUDY DESIGN: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. RESULT: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. CONCLUSION: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.
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Estudos de Associação Genética , Predisposição Genética para Doença , Glucuronosiltransferase/genética , Hiperbilirrubinemia Neonatal/genética , Criança , Feminino , Genótipo , Humanos , Hiperbilirrubinemia Neonatal/patologia , Recém-Nascido , Polônia , Polimorfismo de Nucleotídeo Único , Gravidez , Caracteres SexuaisRESUMO
Ficolin-3 (also called H-ficolin or Hakata antigen) is the most potent activator of the lectin pathway of complement in vitro. Its genetically determined deficiency in Caucasians is associated with a frame-shift mutation +1637delC (rs28357092) of the FCN3 gene. When it was described for the first time, it was postulated to be strictly associated with enhanced susceptibility to infections. At present, with our knowledge extended by several other patients that issue seems to be more complicated and less clear-cut. Two new cases of primary Ficolin-3 deficiency are reported here: a 50-year old male, suffering from membranous nephropathy and an 11-month old male infant who was operated on to repair congenital heart disease. Based on those cases and a literature review, we conclude that the clinical consequences of congenital Ficolin-3 deficiency are still unclear and such questions as whether it may be life-threatening or acts as a disease modifier remain to be elucidated.
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Predisposição Genética para Doença , Glicoproteínas/deficiência , Infecções/etiologia , Lectinas/deficiência , Glicoproteínas/genética , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/genética , Lectinas/genéticaRESUMO
We present a case of a severely ill newborn with congenital atrioventricular heart block (CAVB) diagnosed prenatally. The initial drug therapy just after birth was ineffective, the heart rhythm remained 54 beats per minute, and control echocardiographies showed forthcoming decrease of the left ventricular function with mitral insufficiency. A permanent pacing system with bipolar electrodes eluting two steroids (Medtronic Capsule, Medtronic Inc. Minneapolis, USA) and Medtronic ADAPTA(®) pulse generator (Medtronic Inc, Minneapolis, USA) was implanted on the first day of life. The pace control as well as wound healing were uncomplicated, and the baby was discharged home without additional medication. The procedure of permanent pacemaker implantation on the first day of life was safe and effective, as a benefit from a successfully performed prenatal program in our cooperating institutions.
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The human FCN2 gene codes for ficolin-2 (L-ficolin), a major pattern recognition molecule and activator of the lectin pathway of complement. Seven single nucleotide polymorphisms of this gene were investigated in a large series of cord blood DNA samples. Mutations from the majority to the minority alleles at -602, -4 and +6359 were associated with an increase, while mutations at -986, -557, -64 and +6424 were associated with a decrease, in protein concentration. Full (7 loci) genotypes were obtained for 1229 unrelated neonates, 12 sets of twin siblings and one set of triplets. Forty-four separate genotypes were detected. Four genotypes accounted for more than half the unrelated neonates, and >90% had one of the 12 commonest genotypes. Genotypes were associated with significant differences in mean serum ficolin-2, but the intra-genotype concentration ranges were large and greater than the inter-genotype differences. Consequently, there were no associations between genotypes and low birthweight babies or perinatal infections, and only a weak relationship with preterm deliveries, despite all three adverse pregnancy features being significantly associated with serum ficolin-2 protein. FCN2 genotyping may be of value in clinical studies, but not as a substitute for total serum ficolin-2 protein measurement.
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Infecções/genética , Lectinas/sangue , Lectinas/genética , Nascimento Prematuro/genética , Lectina de Ligação a Manose da Via do Complemento/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Recém-Nascido , Infecções/diagnóstico , Trabalho de Parto/genética , Polimorfismo de Nucleotídeo Único , Gravidez , Nascimento Prematuro/diagnóstico , Trigêmeos , Gêmeos , FicolinasRESUMO
Serum H-ficolin (ficolin-3) concentrations (n=613) and FCN3 genotypes (n=529) from a large group of neonates are presented. Both pre-term deliveries and low birthweight (independently of gestational age) were significantly associated with low H-ficolin concentrations but not with heterozygosity for the FCN3 1637delC frameshift mutation. The presence of the variant allele, however, apparently influenced the protein level. No association of FCN3 gene heterozygosity or relative functional H-ficolin insufficiency (determined as serum level ≤8.6 µg/ml) with perinatal infections was found. One premature newborn, with confirmed infection caused by Streptococcus agalactiae, was H-ficolin-deficient (FCN3 variant homozygote, no detectable protein). We present what is only the fourth case report of total H-ficolin deficiency in the world literature. This neonate was however previously found to be mannan-binding lectin (MBL) as well as MBL-associated serine protease-2 (MASP-2) deficient and also had low serum L-ficolin.
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Glicoproteínas/genética , Lectinas/genética , Polimorfismo Genético , Nascimento Prematuro/genética , Infecções Estreptocócicas/genética , Alelos , Feminino , Mutação da Fase de Leitura , Genótipo , Idade Gestacional , Glicoproteínas/deficiência , Heterozigoto , Homozigoto , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Lectinas/deficiência , Masculino , Lectina de Ligação a Manose/deficiência , Lectina de Ligação a Manose/genética , Serina Proteases Associadas a Proteína de Ligação a Manose/deficiência , Serina Proteases Associadas a Proteína de Ligação a Manose/genética , Nascimento Prematuro/imunologia , Nascimento Prematuro/microbiologia , Infecções Estreptocócicas/imunologia , Infecções Estreptocócicas/microbiologia , Streptococcus agalactiae/imunologiaRESUMO
Congenital anomalies of kidney and urinary tract (CAKUT) are the main cause of end stage renal disease in childhood. Early prenatal detection with planned postnatal diagnosis and therapy are the mainstay of management of neonates with CAKUT which is aimed at the conservation of renal tissue. The above assumptions led to the establishment of the Pommeranian Program for Management of Children with CAKUT. The strategy of the program is to coordinate prenatal diagnosis performed by obstetricians, postnatal care by neonatologists and early management by pediatric nephrologists and urologists. It will involve approximately 200 neonates annually. The basic concept of the program includes the following: 1. Delivery of a child with congenital hydronephrosis detected prenatal should take place in a center with specialist neonatal care. 2. Child with a congenital hydronephrosis should remain under specialist nephro-urologic care immediately after delivery. 3. Child with a congenital hydronephrosis should be qualified to scheduled urologic surgery after results of diagnostic tests and according to general status. 4. Model of integrated care on a child with congenital hydronephrosis should consist in close cooperation between obstetricians, neonatologists, pediatric nephrologists, and urologists.
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Prestação Integrada de Cuidados de Saúde/organização & administração , Hidronefrose/congênito , Hidronefrose/diagnóstico , Assistência Perinatal/organização & administração , Diagnóstico Pré-Natal/métodos , Humanos , Hidronefrose/terapia , Recém-Nascido , Polônia , Desenvolvimento de ProgramasRESUMO
One collectin (mannan-binding lectin, MBL) and three ficolins (M-ficolin/ficolin-1, L-ficolin/ficolin-2 and H-ficolin/ficolin-3) share the capability to activate complement via the lectin pathway. This property depends on the ability of these lectins to form complexes with MBL-associated serine proteases (MASPs), particularly MASP-2. We report the results of an investigation of cord blood MASP-2 concentrations in a large, ethnically homogeneous cohort (n=1788) of neonates. The median value of MASP-2 in cord sera was determined to be 93 ng/ml (range <25-812). Serum MASP-2 concentrations correlated with gestational age and birthweight and were significantly lower in premature babies and other pre-term babies compared with term babies. Neonates with MASP-2 concentrations below 42 ng/ml were deemed to be MASP-2 deficient. That group had a shorter mean gestational age and a higher incidence of premature and low birthweight babies, but not of perinatal infections when compared with the others. Indeed, there was a trend towards higher MASP-2 concentrations amongst babies with infections. Among 362 samples tested for the D120G single nucleotide polymorphism (SNP) of the MASP2 gene, no homozygote for that mutation was found. Heterozygosity for this allele significantly influenced the protein concentration, but not the lectin pathway of complement activity (MBL-MASP-2 complex activity). Moreover, no association of this SNP was apparent with prematurity, low birthweight or perinatal infections.
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Sangue Fetal/metabolismo , Predisposição Genética para Doença , Doenças do Recém-Nascido/genética , Serina Proteases Associadas a Proteína de Ligação a Manose/genética , Serina Proteases Associadas a Proteína de Ligação a Manose/metabolismo , Peso ao Nascer/fisiologia , Estudos de Coortes , Feminino , Sangue Fetal/química , Genótipo , Idade Gestacional , Humanos , Recém-Nascido de Baixo Peso/sangue , Recém-Nascido de Baixo Peso/metabolismo , Recém-Nascido , Doenças do Recém-Nascido/sangue , Doenças do Recém-Nascido/metabolismo , Infecções/sangue , Infecções/genética , Infecções/metabolismo , Masculino , Serina Proteases Associadas a Proteína de Ligação a Manose/análise , Polimorfismo de Nucleotídeo Único/fisiologia , Nascimento Prematuro/sangue , Nascimento Prematuro/genética , Nascimento Prematuro/metabolismoRESUMO
Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. These data from a large cohort of neonates, representing an ethnically homogenous population, suggest that the current knowledge of the genetics of MBL2 is inadequate to predict serum MBL concentration and MBL-dependent lectin pathway activity in individual subjects.
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Lectina de Ligação a Manose/genética , Fenótipo , Adulto , Alelos , Estudos de Coortes , Ativação do Complemento , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Lectina de Ligação a Manose/sangue , Polônia , GravidezRESUMO
Ficolins and one collectin, mannan-binding lectin (MBL), are the only factors known to activate the lectin pathway (LP) of complement. There is considerable circumstantial evidence that MBL insufficiency can increase susceptibility to various infections and influence the course of several non-infectious diseases complicated by infections. Much less information is available concerning l-ficolin. We report the results of a prospective study to investigate any association between either MBL deficiency or l-ficolin deficiency with prematurity, low birthweight or perinatal infections in a large cohort of Polish neonates, representing an ethnically homogenous population (n=1832). Cord blood samples were analysed to determine mbl-2 gene variants, MBL concentrations and MBL-MASP-2 complex activities (MBL-dependent lectin pathway activity) as well as l-ficolin levels. Median concentrations of l-ficolin and MBL were 2500 and 1124 ng/ml, respectively, while median LP activity was 272 mU/ml. After genotyping, 60.6% of babies were mbl-2 A/A, 35.4% were A/O and 4% were O/O genotypes. We found relative l-ficolin deficiency to be associated with prematurity, low birthweight and infections. l-Ficolin concentration correlated with gestational age and with birthweight, independently of gestational age. Preterm deliveries (<38 weeks) occurred more frequently among neonates with low LP activity but not with those having low serum MBL levels. Similarly, no association of serum MBL deficiency with low birthweight was found, but there was a correlation between LP activity and birthweight. Genotypes conferring very low serum MBL concentrations were associated with perinatal infections, and high-MBL-conferring genotypes were associated with prematurity. Our findings suggest that l-ficolin participates in host defence during the perinatal period and constitute the first evidence that relative l-ficolin deficiency may contribute to the adverse consequences of prematurity. Some similar trends were found with facets of MBL deficiency, but the observed relationships were weaker and less consistent.