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1.
Ginekol Pol ; 88(8): 434-441, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28930370

RESUMO

OBJECTIVES: Evaluate the time dependent expression of genes in preterm neonates and verify the influence of ontogenic maturation and the environmental factors on the gene expression after birth. MATERIAL AND METHODS: The study was carried out on 20 full-term newborns and 62 preterm newborns (mean birth weight = 1002 [g] (SD: 247), mean gestational age = 27.2 weeks (SD: 1.9)). Blood samples were drawn from all the study participants at birth and at the 36th week postmenstrual age from the preterm group to assess whole genome expression in umbilical cord blood and in peripheral blood leukocytes, respectively. (SurePrint G3 Human Gene Expression v3, 8x60K Microarrays (Agilent)). RESULTS: A substantial number of genes was found to be expressed differentially at the time of birth and at 36 PMA in comparison to the term babies with more genes being down-regulated than up-regulated. However, the fold change in the majority of cases was < 2.0. Extremely preterm and very preterm infants were characterized by significantly down-regulated cytokine and chemokine related pathways. The number of down-regulated genes decreased and number of up-regulated genes increased at 36 PMA vs. cord blood. There were no specific gene expression pathway profiles found within the groups of different gestational ages. CONCLUSIONS: Preterm delivery is associated with a different gene expression profile in comparison to term delivery. The gene expression profile changes with the maturity of a newborn measured by the gestational age.


Assuntos
Perfilação da Expressão Gênica , Recém-Nascido Prematuro , Nascimento a Termo , Feminino , Genoma Humano , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Prospectivos
2.
Pol J Radiol ; 82: 837-841, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29657652

RESUMO

BACKGROUND: Brain abscesses are very rarely diagnosed in neonates, but if present, they are associated with a high risk of severe complications and mortality. In neonates, brain abscesses can be detected on transfontanelle ultrasonography, in which they appear as hyperechogenic lesions surrounded by a hypoechogenic border. CASE REPORT: We present a female neonate, born in the 28th week of gestation, with birth weight of 950 grams, who was born in an ambulance by spontaneous vaginal vertex delivery. No signs of infection were present until the 35th day of hospitalization, when a sudden and serious deterioration in the patient's condition was observed due to late-onset sepsis. Cranial US, performed on the 40th day of life, revealed hyperechogenic lesions with a hypoechogenic halo in the right frontal lobe, which could correspond to brain abscesses. These lesions were caused by Citrobacter koseri septicaemia, identified by transfontanelle ultrasonography, and confirmed on magnetic resonance imaging. The patient recovered and was discharged on the 91th day of life (39 PCA) with a recommendation of permanent neurological surveillance. CONCLUSIONS: Ultrasonography of the central nervous system can reveal inflammatory changes and developing brain abscesses. In neonates, magnetic resonance imaging should be performed as the method of choice for confirming brain abscesses.

3.
Dev Med Child Neurol ; 58(4): 361-8, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26365130

RESUMO

AIM: To explore the appropriateness of applying a detailed assessment of general movements and characterize the relationship between global and detailed assessment. METHOD: The analysis was based on 783 video recordings of 233 infants (154 males, 79 females) who had been videoed from 27 to 45 weeks postmenstrual age. Apart from assessing the global general movement categories (normal, poor repertoire, cramped-synchronized, or chaotic general movements), we scored the amplitude, speed, spatial range, proximal and distal rotations, onset and offset, tremulous and cramped components of the upper and lower extremities. Applying the optimality concept, the maximum general movement optimality score of 42 indicates the optimal performance. RESULTS: General movement optimality scores (GMOS) differentiated between normal general movements (median 39 [25-75th centile 37-41]), poor repertoire general movements (median 25 [22-29]), and cramped-synchronized general movements (median 12 [10-14]; p<0.01). The optimality score for chaotic general movements (mainly occurring at late preterm age) was similar to those for cramped-synchronized general movements (median 14 [12-17]). Short-lasting tremulous movements occurred from very preterm age (<32wks) to post-term age across all general movement categories, including normal general movements. The detailed score at post-term age was slightly lower compared to the scores at preterm and term age for both normal (p=0.02) and poor repertoire general movements (p<0.01). INTERPRETATION: Further research might demonstrate that the GMOS provides a solid base for the prediction of improvement versus deterioration within an individual general movement trajectory.


Assuntos
Desenvolvimento Infantil/fisiologia , Recém-Nascido Prematuro/fisiologia , Movimento/fisiologia , Transtornos do Neurodesenvolvimento/diagnóstico , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Transtornos do Neurodesenvolvimento/fisiopatologia , Gravação em Vídeo
4.
Neuro Endocrinol Lett ; 37(6): 433-438, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28315627

RESUMO

OBJECTIVES: The objective of this study is to assess the cytological picture of the nasal mucosa of neonates born to mothers who are active smokers, passive smokers and non-smokers. METHODS: A prospective study was conducted in a group of 86 neonates born between 23 and 41 weeks of gestation. The assignation of neonates to one of the three aforementioned groups was based on a questionnaire concerning exposure to tobacco smoke, and on the concentration of cotinine in maternal urine. A cytological examination was performed using exfoliative cytology with a semi-quantitative evaluation of the cells present in the specimens. Hematological summation equipment was used to assess the number of neutrophils, eosinophils, columnar, goblet, basal and squamous cells out of 500 cells counted. The number of specific cells was expressed as a percentage and a cytogram was created. RESULTS: The most common type of cytogram contained neutrophils, columnar cells, and squamous cells. No significant differences were observed between the subgroups. Similarly, there was no correlation between the median of each type of cell and the cotinine concentration in the mothers' urine. CONCLUSION: Active and passive smoking during pregnancy do not influence the cytological picture of the nasal mucosa of neonates.


Assuntos
Desenvolvimento Fetal/fisiologia , Exposição Materna , Nicotiana/efeitos adversos , Poluição por Fumaça de Tabaco/efeitos adversos , Adulto , Peso ao Nascer/fisiologia , Cotinina/efeitos adversos , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna/efeitos adversos , Mucosa Nasal , Gravidez , Estudos Prospectivos , Fumar/efeitos adversos , Fumar/metabolismo
5.
Cent Eur J Immunol ; 41(4): 376-382, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28450800

RESUMO

The aim of the present study was to investigate serum levels of novel markers: interleukin 17A (IL-17A), anaphylatoxin C5a and chemokine regulated upon activation normal T-cell expressed and secreted (RANTES) in neonates with clinically suspected early-onset neonatal sepsis (EONS), and to compare their values with those of non-infected neonates. Eighteen neonates with clinical signs and symptoms of EONS were enrolled in this study. Fifty healthy, non-infected neonates served as the control group. In all neonates serum levels of IL-17A, C5a and RANTES were measured by solid-phase sandwich enzyme-linked immunosorbent assay (ELISA). At the time of investigation serum levels of anaphylatoxin C5a were significantly higher in neonates with clinical symptoms of EONS than in non-infected neonates (median 65.35 vs. 50.4 ng/ml, p = 0.034), whereas levels of RANTES were similar and levels of IL-17A were under detection limit of the method. Based on these preliminary results, serum levels of C5a may be a useful marker of inflammation in early onset neonatal sepsis. Because traditional methods of microbiological diagnostics in EONS are frequently unsuccessful, the search for an alternative laboratory biomarkers is of great clinical importance. Thus, there is a strong need for further studies evaluating usefulness of this anaphylatoxin in EONS diagnosis on a larger group of patients.

6.
Ann Nutr Metab ; 67(1): 33-41, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26227305

RESUMO

BACKGROUND: High prevalence of vitamin D deficiency in pregnancy is recorded. AIM: To establish determinants of postpartum 25-hydroxyvitamin D (25(OH)D) levels on mothers and offspring. METHODS: 25(OH)D level was measured in cord blood and maternal blood collected ≤3 weeks postpartum. Maternal socioeconomic status, vitamin D intake, sun exposure during pregnancy and maternal and neonatal fat mass (FM; dual X-ray absorptiometry) were assessed within 3 weeks postpartum. RESULTS: A total of 174 mother-offspring pairs were enrolled. Maternal 25(OH)D <20 ng/ml was seen in 32 (51%) of summer and 82 (74%) of winter deliveries. Women with 25(OH)D <20 ng/ml had a 2-fold lower percentage of vitamin D intake of ≥800 IU/day than women with 25(OH)D ≥20 ng/ml (p = 0.02). FM (%) was comparable between groups (p > 0.05). Multiple regression analysis revealed the delivery season, prenatal vitamin D intake ≥800 IU/day and duration of supplementation to be the determinants of maternal 25(OH)D level (R(2) = 0.26, p < 0.001). Maternal 25(OH)D level, season of birth and duration of maternal supplementation explained 83% of the variance in cord blood 25(OH)D level (R(2) = 0.83, p < 0.001). CONCLUSIONS: The key determinants of higher maternal vitamin D status were the summer-autumn season of delivery and prenatal use of ≥800 IU/day of vitamin D. The cord blood 25(OH)D level was mainly determined by maternal 25(OH)D level and season of birth.


Assuntos
Estado Nutricional , Período Pós-Parto/sangue , Deficiência de Vitamina D/epidemiologia , Vitamina D/análogos & derivados , Adulto , Índice de Massa Corporal , Estudos Transversais , Suplementos Nutricionais/estatística & dados numéricos , Feminino , Sangue Fetal/química , Humanos , Recém-Nascido , Masculino , Mães , Polônia/epidemiologia , Gravidez , Cuidado Pré-Natal/estatística & dados numéricos , Análise de Regressão , Estações do Ano , Classe Social , Luz Solar , Vitamina D/sangue , Deficiência de Vitamina D/sangue , População Branca
7.
Ginekol Pol ; 84(8): 733-6, 2013 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-24191510

RESUMO

We present a case of a female neonate, born at 36 weeks of gestation from a monochorionic, diamniotic spontaneous twin pregnancy with congenital epulis, 2.5 cm in size, protruding from the oral cavity. Histopathology revealed a typical granular cell lesion. The other twin, also female, was prenatally diagnosed with congenital heart defect: pulmonary stenosis. The tumor was typically located in the maxillary alveolar ridge and unidirectional. The child underwent a successful surgery on the first day after birth. The course of the procedure and recovery was uneventful.


Assuntos
Neoplasias Gengivais/patologia , Neoplasias Gengivais/cirurgia , Tumor de Células Granulares/patologia , Tumor de Células Granulares/cirurgia , Feminino , Humanos , Recém-Nascido , Maxila/patologia , Maxila/cirurgia , Resultado do Tratamento , Gêmeos
8.
Ginekol Pol ; 84(2): 151-6, 2013 Feb.
Artigo em Polonês | MEDLINE | ID: mdl-23668064

RESUMO

The authors present the first case of regression of cystic lesions on brain MRI in a newborn after therapeutic hypothermia in Poland. Multicystic encephalopathy is the most severe form of hypoxic-ischemic encephalopathy and its regression is described very rarely in the literature. Magnetic resonance imaging is an accepted, optimal method of evaluation of the brain and establishing prognosis in children with HIE. After normal pregnancy an emergency cesarean section was performed at 37 weeks gestation due to the markers of intrauterine hypoxia on CTG. The condition of the newborn was serious: 3, 5, 7, 8 points according to Apgar score in 1st, 3nd, 5th and 10th minute of life, respectively. The infant required resuscitation. The cooling procedure lasted 72 hours. The first MRI study was performed at the age of 3 weeks and revealed cavities in the frontal and parietal lobed. The Evans index was 0.33. The second MRI investigation was carried out at the age of 5 weeks. The cavitary appearance did not change, the Evans index decreased to 0.32. The child underwent third MRI at the age of 2 years 4 months. No cystic lesions were found. There were signs of gliosis in their place and focal cortical-subcortical atrophy. The Evans index was 0.28 (within the normal limits). The neuropsychological status of the child at the age of 2.5 years is normal and brain MRI reveals strikingly mild lesions as compared to cavitary injury reported at the age of 3 and 5 weeks. The presented case shows that severe hypoxic-ischemic lesions such as cavities in an infant after cooling procedure do not necessarily mean poor prognosis, as with time even such lesions may regress. Therefore, even after the MRI diagnosis of multicystic encephalopathy the prognosis should be made with care.


Assuntos
Asfixia Neonatal/terapia , Deficiências do Desenvolvimento/prevenção & controle , Hipotermia Induzida/métodos , Hipóxia-Isquemia Encefálica/terapia , Asfixia Neonatal/complicações , Asfixia Neonatal/diagnóstico , Deficiências do Desenvolvimento/etiologia , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Resultado do Tratamento
9.
Vaccines (Basel) ; 11(9)2023 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-37766158

RESUMO

Respiratory syncytial virus (RSV) is the most common pathogen causing respiratory tract infections in infants, affecting over 90% of children within the first two years of life. It may cause lower respiratory tract infections, which constitute a significant healthcare burden both in the primary and secondary care settings. Meanwhile, the data regarding RSV disease in Poland is scarce, and published data significantly differs from the numbers reported for other countries with longstanding surveillance and reporting systems. A literature review and an expert panel were conducted to (1) understand the healthcare burden of RSV infections in Poland; (2) collect data on infection seasonality, patient pathway, and management patterns; and (3) evaluate RSV infection surveillance in Poland. According to the literature, RSV is the major agent responsible for non-influenza respiratory diseases in Poland. The reported rates of hospitalization for RSV infections are 267.5/100,000 for children under 5 years of age and 1132.1/100,000 for those under 1 year of age. Comparisons with data from other countries suggest that these values may be underestimated, possibly due to insufficient access to microbiological testing and a low awareness of RSV. Infections occur mainly between December and April, however, this pattern has changed following the implementation of preventive measures for coronavirus disease 2019 in the past few years. According to available reports, bronchodilators, antibiotics, corticosteroids, and X-ray imaging have been frequently used. The surveillance system in Poland has limitations, but these may be overcome due to recent changes in healthcare law as well as the availability and reimbursement of diagnostic tests.

10.
Ginekol Pol ; 82(1): 39-43, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21469520

RESUMO

INTRODUCTION: The paper discusses the reliability of the Apgar score for evaluating newborns, particularly its usefulness in assessing the state of preterm or full term newborns born with hypoxia. AIM: The paper provides a sum-up of the opinions on usefulness and reliability of the Apgar score given by doctors from 255 NICUs. MATERIAL AND METHODS: Data for the analysis were gathered by means of a questionnaire opinion poll sent to 158 primary referral centers, 71 secondary referral centers and 26 tertiary referral centers. Respondents answered questions about value of the Apgar score assessment (highly valuable, limited value, always reliable), as well as overrating and underrating children born in good overall condition and children born with clinical and biochemical indicators of hypoxia. In the group of prematurely born babies, the data concerning newborns with very low (VLBW) and extremely low birth weight (ELBW) were analyzed separately RESULTS: 88.5% neonatologists claimed the use of the Apgar score in assessing newborn condition to be of little value and only 11.5% found this indicator useful and reliable. CONCLUSIONS: According to the majority of Polish neonatologists, Apgar score is not reliable in the assessment of term and preterm hypoxic newborns.


Assuntos
Índice de Apgar , Asfixia Neonatal/classificação , Salas de Parto/organização & administração , Recém-Nascido de Baixo Peso , Recém-Nascido Prematuro , Asfixia Neonatal/diagnóstico , Asfixia Neonatal/epidemiologia , Peso ao Nascer , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/organização & administração , Masculino , Assistência Perinatal/métodos , Polônia/epidemiologia , Vigilância da População , Reprodutibilidade dos Testes , Projetos de Pesquisa , Inquéritos e Questionários
11.
Ginekol Pol ; 92(2): 118-125, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33751522

RESUMO

OBJECTIVES: Delayed or insufficient breast milk production, as well as low milk supply, is still a challenging problem to overcome, particularly in the case of preterm delivery. Herbal galactagogues might be a good way to increase milk supply, however, there is a lack of clinical studies confirming their efficacy and safety. The aim of this study was to verify the safety and effectiveness as a galactagogue of the unique galactagogue composition based on barley malt with ß -glucan and lemon balm. MATERIAL AND METHODS: The study included 117 mothers of preterm infants randomly divided into the Galactagogue Group given galactagogue and the Placebo Group. A complete data set was obtained for 80 participants, divided equally between two groups. Volume of milk expressed by mothers during the first two weeks after delivery was the primary outcome and safety of the product was the secondary outcome. RESULTS: Volume of milk recorded on participants' last visit in the Galactagogue Group was significantly higher than in the Placebo Group (95 mL vs 62.5 mL, p = 0.049). The total expressed milk volume during the study was 4209 ± 335 mL in the Placebo Group vs 6036 ± 498 mL (p = 0.003) in the Galactagogue Group. CONCLUSIONS: Supplementation with unique Galactagogue composition was safe and increased milk output which allowed achieving target minimal volume of 500 mL per day in first week of lactation in preterm mothers.


Assuntos
Aleitamento Materno , Galactagogos/farmacologia , Hordeum/química , Lactação/efeitos dos fármacos , Leite Humano/metabolismo , Adulto , Aleitamento Materno/métodos , Feminino , Galactagogos/administração & dosagem , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Mães , Nascimento Prematuro
12.
Ginekol Pol ; 81(9): 693-8, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20968176

RESUMO

BACKGROUND: The survival rate and quality of life of extremely low birthweight infants remain to be one of the main challenges of modern neonatology. Therefore, pre-term children born after 32 weeks of gestation with more normal birthweight, have become a relatively minor medical problem in comparison. OBJECTIVES: The aim of the following work was to compare the frequency of complications occurring in neonatal period in groups of late preterms and full-term neonates. METHODS: A group of 725 late pre-term babies, born between 34-36 6/7 GA, constituted the study group and has been analyzed retrospectively 5040 neonates born at term comprised the control group. The results were analyzed statistically using chi-square test. RESULTS: Respiratory disturbances were diagnosed in 178 neonates in the study group (24.55%), while in the control group in 138 cases (2.74%), p = 0.0000. Intrauterine infections were present in 92 neonates in the study group (12.69%) and in 327 infants in the control group (6.49%), p = 0.0000. Hiperbilirubinemia developed in 520 neonates in the study group (71.72%), and in 1895 babies in the control group (37.60%), p = 0.0000. CONCLUSIONS: (1) Respiratory disturbances, hiperbilirubinemia and intrauterine infections are more frequently observed in late preterms. (2) Increased morbidity in late preterm neonates prolongs the time of hospitalization.


Assuntos
Doenças do Prematuro/diagnóstico , Doenças do Prematuro/epidemiologia , Recém-Nascido Prematuro , Recém-Nascido de muito Baixo Peso , Displasia Broncopulmonar/epidemiologia , Feminino , Idade Gestacional , Humanos , Hiperbilirrubinemia Neonatal/epidemiologia , Incidência , Recém-Nascido , Infecções/epidemiologia , Masculino , Pneumonia/epidemiologia , Polônia/epidemiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Estudos Retrospectivos , Fatores de Risco
13.
Ginekol Pol ; 80(8): 620-3, 2009 Aug.
Artigo em Polonês | MEDLINE | ID: mdl-19824462

RESUMO

Encephalopathy in a common neonatological sense is a term referring to a complex of clinical symptoms occurring in term infants in the first days of their life as a result of hypoxic-ischemic lesions. However, if we accept the encyclopedic definition of encephalopathy as a vast or multifocal brain lesions caused by a variety of factors, we may use the term to describe all patients with traumatic, hypoxic or toxic brain lesions, and therefore also newborns at different levels of maturity. Contrary to term newborns, in which case the hypoxic-ischemic encephalopathy are mostly intrauterine, for preterm infants there is a number of factors which destroy neural tissue postnatally The occurrence of those factors is often influenced by elements of essential intensive care. The article describes the most common biochemical disturbances and clinical causes.


Assuntos
Hipóxia-Isquemia Encefálica/epidemiologia , Hipóxia-Isquemia Encefálica/patologia , Recém-Nascido Prematuro , Tecido Nervoso/patologia , Causalidade , Humanos , Hipóxia-Isquemia Encefálica/terapia , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Fatores de Risco
14.
Przegl Lek ; 66(10): 548-53, 2009.
Artigo em Polonês | MEDLINE | ID: mdl-20301877

RESUMO

The aim of this work was the assessment of the clinical condition, birth weight, frequency of premature birth and incidence of intrauterine growth restriction (IUGR) of the newborns whose mothers were active and passive smokers. This was a prospective study conducted in a group of 147 newborns born during the years 2003-2004 in the Princess Anna Mazowiecka Hospital, Warsaw, and hospitalized in the Neonatal and Intensive Care Department of Warsaw Medical University. Based on a questionnaire identifying the exposure to tobacco smoke and cotinine concentration in the mother's urine, the newborns were assigned to three groups: the newborns whose mothers were active smokers, the newborns whose mothers were passive smokers and the newborns of non-smoking mothers. There were no statistically significant differences in the Apgar score assessment at the 1st and 5th minute between the three groups of the newborns. Acid-base balance parameters (pH, BE) were also similar. The birth weight of the newborns of mothers who were active smokers was 325g lower than the birth weight of the newborns of non-smoking mothers. This difference was statistically significant p = 0.033. Maternal smoking in pregnancy was associated with an increased risk of deficit in birth weight 2.6 (1.0-6.9, CI 95%). In the group of the newborns whose mothers were active smokers, the incidence of lower birth weight (< 2500g) was also statistically significantly higher p = 0.01. There were no statistically significant differences in the incidence of premature birth and intrauterine growth restriction (IUGR).


Assuntos
Retardo do Crescimento Fetal/epidemiologia , Complicações na Gravidez/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Fumar/epidemiologia , Poluição por Fumaça de Tabaco/estatística & dados numéricos , Peso ao Nascer , Causalidade , Cotinina/urina , Feminino , Humanos , Incidência , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Polônia/epidemiologia , Gravidez , Complicações na Gravidez/urina , Estudos Prospectivos , Fumar/urina , Inquéritos e Questionários
15.
Kardiol Pol ; 77(4): 445-450, 2019 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-30835331

RESUMO

BACKGROUND Both gestational and chronological age of the neonate may influence and impair the function of the delicate and immature myocardium. However, the transition from fetal to neonatal circulation in preterm neonates is poorly understood. AIMS This study aimed to compare left ventricular (LV) systolic and diastolic function between premature neonates at expected term and term neonates during the postnatal cardiovascular transitional period. METHODS Using echocardiography, we assessed systolic and diastolic function of the LV in 89 preterm neonates at week 40 of postconceptional age and 29 term neonates after closure of the patent ductus arteriosus (PDA) and on the 28th day of life. Based on M­mode images, we measured myocardial thickness and fractional shortening (FS%). Using pulsed­wave Doppler echocardiography, we estimated cardiac output, myocardial performance index (MPI), and LV diastolic function (E and A waves, E/A ratio). Systolic and diastolic function was also assessed by tissue Doppler imaging. RESULTS Compared with term neonates on the 28th day of life, preterm neonates had reduced myocardial thickness (P ≤0.04), FS% (P = 0.002), and cardiac output (P = 0.01). However, preterm neonates had a lower MPI than term neonates after PDA closure (P <0.001) and on the 28th day of life (P = 0.02). The E/A ratio and S' wave values were similar in preterm and term neonates (P >0.05). CONCLUSIONS Preterm neonates at 40 weeks of postconceptional age have preserved systolic and diastolic function of the LV.


Assuntos
Ventrículos do Coração/diagnóstico por imagem , Função Ventricular Esquerda , Diástole , Permeabilidade do Canal Arterial , Ecocardiografia Doppler , Feminino , Ventrículos do Coração/patologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Sístole
16.
J Matern Fetal Neonatal Med ; 32(12): 1958-1964, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29295665

RESUMO

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 <29-week gestation (incidence 10%). The risk factors for severe BPD included male gender (OR 3.02 95%CI 1.30-7.46), intubation in the delivery room (OR 2.57, 95%CI 1.00-7.18), and invasive ventilation >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 <15 min after birth in the multivariate model. CONCLUSIONS: Mechanical ventilation >7 days is the most prevalent risk factor for severe BPD. CPAP initiated in the delivery room and early surfactant are key preventive measures.


Assuntos
Displasia Broncopulmonar/epidemiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/epidemiologia , Feminino , Humanos , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Polônia/epidemiologia , Estudos Prospectivos , Fatores de Risco
18.
Nat Genet ; 51(1): 117-127, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30578417

RESUMO

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.


Assuntos
Variações do Número de Cópias de DNA/genética , Rim/anormalidades , Sistema Urinário/anormalidades , Anormalidades Urogenitais/genética , Refluxo Vesicoureteral/genética , Deleção Cromossômica , Feminino , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Masculino
19.
Acta Biochim Pol ; 65(1): 79-86, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29543922

RESUMO

Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 G>T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.


Assuntos
Colágeno Tipo I/genética , Mutação , Osteogênese Imperfeita/genética , Cadeia alfa 1 do Colágeno Tipo I , Éxons , Humanos , Íntrons , Osteogênese , Polimorfismo Genético , Pró-Colágeno/metabolismo
20.
Artigo em Inglês | MEDLINE | ID: mdl-29904370

RESUMO

INTRODUCTION: Vitamin D deficiency is an important public health problem worldwide. Vitamin D deficiency confers a significant risk for both skeletal and non-skeletal disorders and a number of lifelong negative health outcomes. The objectives of this evidence-based guidelines document are to provide health care professionals in Poland, an updated recommendation for the prevention, diagnosis and treatment of vitamin D deficiency. METHODS: A systematic literature search examining the prevention and treatment strategies for vitamin D deficiency was conducted. Updated recommendations were developed using the Grading of Recommendations, Assessment, Development and Evaluation system describing the strength of the recommendation and the quality of supporting evidence. Twenty-seven contributors representing different areas of expertise and medical specialties, including pediatricians, geriatricians, endocrinologists, epidemiologists, nephrologists, gynecologists and obstetricians evaluated the available published evidence related to vitamin D, formulated the goals of this document and developed a common consolidated position. The consensus group, representing six national specialist consultants and eight Polish and international scientific organizations/societies, participated in the process of grading evidence and drawing up the general and specific recommendations. RESULTS: The updated recommendations define the diagnostic criteria for the evaluation of vitamin D status and describe the prevention and treatment strategies of vitamin D deficiency in the general population and in groups at increased risk of the deficiency. Age- and weight-specific recommendations for prevention, supplementation and treatment of vitamin D deficiency are presented, and detailed practice guidance is discussed regarding the management in primary and specialized health care. CONCLUSION: Vitamin D deficiency remains still highly prevalent in Poland, in all age groups. Currently, there is a great necessity to implement a regular supplementation with recommended doses and to develop an effective strategy to alleviate vitamin D deficiency in the population. These updated recommendations are addressed to health professionals and the authorities pursuing comprehensive health policies and should also be included in public health programs aimed at preventing a broad spectrum of chronic diseases.

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