RESUMEN

BACKGROUND: Retinopathy of prematurity (ROP) is one of the most common preventable causes of blindness and impaired vision among children in developed countries. The aim of the study was to compare whole-genome expression in the first month of life in groups of infants with and without ROP. METHODS: Blood samples were drawn from 111 newborns with a mean gestational age of 27.8 wk on the 5th, 14th, and 28th day of life (DOL). The mRNA samples were evaluated for gene expression with the use of human whole-genome microarrays. The infants were divided into two groups: no ROP (n = 61) and ROP (n = 50). RESULTS: Overall, 794 genes were differentially expressed on the 5th DOL, 1,077 on the 14th DOL, and 3,223 on the 28th DOL. In each of the three time points during the first month of life, more genes were underexpressed than overexpressed in the ROP group. Fold change (FC), which was used in analysis of gene expression data, ranged between 1.0 and 1.5 in the majority of genes differentially expressed. CONCLUSION: Pathway enrichment analysis revealed that genes in four pathways related to inflammatory response were consistently downregulated due to the following variables: ROP and gestational age.

Asunto(s)

Perfilación de la Expresión Génica , Recien Nacido Prematuro , ARN Mensajero/sangre , Retinopatía de la Prematuridad/genética , Análisis de Varianza , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Femenino , Perfilación de la Expresión Génica/métodos , Regulación del Desarrollo de la Expresión Génica , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Edad Gestacional , Humanos , Recien Nacido Extremadamente Prematuro/sangre , Recién Nacido , Recien Nacido Prematuro/sangre , Inflamación/genética , Unidades de Cuidado Intensivo Neonatal , Modelos Lineales , Masculino , Análisis de Secuencia por Matrices de Oligonucleótidos , Fenotipo , Análisis de Componente Principal , Estudios Prospectivos , Reacción en Cadena en Tiempo Real de la Polimerasa , Reproducibilidad de los Resultados , Retinopatía de la Prematuridad/diagnóstico , Factores de Riesgo , Índice de Severidad de la Enfermedad

RESUMEN

Wide spectrum of infectious causes should be considered while diagnosing febrile states in infants.The aim of study is to present the case of 3-month-old infant with febrile states. Boy was admitted to Department of Pediatrics to Infant Unit because of the febrile states lasting for 4 weeks. Perinatal history: first pregnancy, cesarean section in 39 weeks of gestation due to mother's pointed condyloma, birth weight 3140 g, Apgar score 10 in first minute. There was no information about the course of pregnancy, mother's diseases, father was unknown. The child was ambulatory cured with several antibiotics because of the respiratory tract infections. On admission to hospital the general status of the infant was quite good, there was respiratory tract infection, hepatomegaly, and aphthae found in physical examination. Increased levels of inflammation markers and elevated activity of liver enzymes were observed in laboratory tests. Perihilar inflammatory density was found in chest radiogram. After finishing pharmacological treatment there were no pathological changes on auscultation of the lungs. The hospital course was complicated with Rotaviral infection. As the febrile states and hyperactivity of liver enzymes persisted, the diagnostics was extended. There was sepsis, neuroinfection, number of bacterial and viral infections excluded. There was also urine collected for the levels of catecholamines, the result was normal. Due to reverse proportion of the CD4 and CD8 lymphocytes, persistent active CMV infection and clinical status of the child, HIV test was performed. There was confirmed presence of p24 antigen of HIV in immunological test. The child was transfered to Child's Infectious Diseases Unit of Stefan Zeromski Hospital in Cracow to verify the result of laboratory test and start therapy.

Asunto(s)

Fiebre/etiología , Seropositividad para VIH/complicaciones , Seropositividad para VIH/diagnóstico , Hepatomegalia/diagnóstico , Infecciones del Sistema Respiratorio/complicaciones , Infecciones del Sistema Respiratorio/diagnóstico , Preescolar , Diagnóstico Diferencial , Hepatomegalia/etiología , Humanos , Masculino , Infecciones por Rotavirus/complicaciones , Infecciones por Rotavirus/diagnóstico

RESUMEN

UNLABELLED: Preterm ovarian hyperstimulation syndrome (POHS) is a rare condition in which immaturity of the gonadal axis is accepted as the cause. Based on our case and 8 cases from the literature, we made an attempt to specify the mechanisms underlying the syndrome and its pathognomonic signs. All POHS newborns were born between 24 and 31 weeks postconception age (WPCA) and developed vulvar, hypogastric and upper leg swelling, and ovarian follicular cyst/cysts (10-40 mm in diameter) with mildly or considerably elevated E(2) concentrations (80-5,300 pmol/l) between 35 and 39 WPCA. The GnRH test, performed in 5 cases, confirmed gonadal axis activation. In our case the observed normalization of elevated gonadotropin values by 43 WPCA, accompanied by a simultaneously increasing E(2) value (approximately 800 pmol/l), could correspond with the maturation of the gonadal steroid-dependent negative-feedback mechanism. The continuously increasing E(2) levels after this period (maximum 1,300 pmol/l) suggest its autonomous secretion. In all the cases, including 3 neonates treated with medroxyprogesterone and surgery, the swelling resolved by 6 months. CONCLUSIONS: A pathognomonic sign of POHS is swelling which develops around 37 +/- 3 WPCA, and the syndrome is only infrequently diagnosed when the swelling is profound. The direct etiologic factor here is not E(2). POHS does not require therapy as long as there is no danger of cyst torsion.

Asunto(s)

Síndrome de Hiperestimulación Ovárica/etiología , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Recién Nacido , Hormona Luteinizante/sangre , Síndrome de Hiperestimulación Ovárica/sangre

RESUMEN

The aim of the study was to assess the association between bronchopulmonary dysplasia (BPD) and polymorphisms of genes coding for vascular endothelial growth factor (VEGF), transforming growth factor (TGF-[beta]1), insulin-like growth factor (IGF-1), and 5,10-methylenetetrahydrofolate reductase (MTHFR). A sample of 181 newborns with mean gestational age of 28 wk was prospectively evaluated. Molecular analysis of TGF-[beta]1 -800G>A, -509C>T, 10T>C, 25G>C, VEGF -460T>C and 405G>C and MTHFR 677C>T polymorphisms were performed and the number of CA repeats in the promoter region of IGF-1 gene was assessed. The frequency of all TGF-[beta]1, IGF-1, and MTHFR polymorphisms, as well as the frequency of VEGF 405G>C polymorphism was similar in all groups. The newborns with -460TT and -460CT genotypes were significantly overrepresented in the BPD groups compared with the no BPD group. Multivariate analysis revealed that carrying T allele increased the risk of BPD by 9% (95%CI: 2-14%) above the baseline risk established for given gestational age, length of oxygen therapy, and sex. Based on our data from a single center, we propose that VEGF -460T>C polymorphism may influence the risk of BPD.

Asunto(s)

Displasia Broncopulmonar/genética , Predisposición Genética a la Enfermedad , Polimorfismo Genético , Femenino , Frecuencia de los Genes , Genotipo , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Factor I del Crecimiento Similar a la Insulina/genética , Masculino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Factores de Riesgo , Análisis de Secuencia de ADN , Factor de Crecimiento Transformador beta1/genética , Factor A de Crecimiento Endotelial Vascular/genética

RESUMEN

BACKGROUND: Recent experimental studies suggest that vascular endothelial growth factor (VEGF) can play an important role in the development of retinopathy of prematurity (ROP). There are interesting observations of VEGF concentration in the serum, depending on its gene polymorphism which can have an impact on abnormal vessel development in the retina. AIM: Analysis of: (1) association of VEGF gene polymorphisms and the incidence of ROP, (2) correlation between serum concentration of VEGF and soluble VEGF receptor 1 (sVEGFR-1) during the 1st month of life and the risk of ROP, and (3) correlation between VEGF gene polymorphisms and VEGF serum concentrations. METHODS: A sample of 181 newborns with mean birthweight 1054 g (range: 500-1500 g) was prospectively evaluated. Molecular analysis of VEGF -460T>C and 405G>C polymorphisms were performed in the whole studied population, and concentrations of VEGF and sVEGFR-1 were measured by Elisa assay in the 2nd, 3rd and 4th weeks of life in the group of 128 children. The infants were divided into 3 groups: A) no ROP (n = 101), B) ROP not requiring treatment (n = 20), and C) ROP requiring laser or cryotherapy (n = 60). RESULTS: The frequency of VEGF 405G>C polymorphism was similar in all studied groups. The carriage of polymorphic allele -460 T was significantly overrepresented in ROP newborns who required treatment as compared to the no ROP group (54.2% vs 42.6%; OR: 1.63; 95% CI: 1.03-2.55). VEGF serum concentrations in the patients ascribed to different groups depending on the 405G>C or -460 T>C polymorphisms were similar. VEGF and sVEGFR-1 concentration on the 10th day of life did not differ significantly between the studied groups. Consecutive measurements showed a gradual increase in VEGF serum concentration in children without ROP, whereas in children with ROP requiring treatment the levels remained low. CONCLUSIONS: Based on our observations and previously published data, the association of the VEGF gene promoter polymorphisms and the risk of advanced ROP is weak. VEGF serum concentration assessment as early as on the 20th day of life appears to be a promising approach to recognize newborns at risk of the development of advanced ROP.

Asunto(s)

Polimorfismo de Nucleótido Simple , Retinopatía de la Prematuridad/genética , Factor A de Crecimiento Endotelial Vascular/genética , Peso al Nacer , Criocirugía , Ensayo de Inmunoadsorción Enzimática , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recién Nacido de muy Bajo Peso , Coagulación con Láser , Masculino , Estudios Prospectivos , Retinopatía de la Prematuridad/sangre , Retinopatía de la Prematuridad/cirugía , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factor A de Crecimiento Endotelial Vascular/sangre , Receptor 1 de Factores de Crecimiento Endotelial Vascular/sangre

RESUMEN

BACKGROUND: The improvements in perinatal care during last decade have changed clinical presentation of intracranial hemorrhage (ICH) among full-term newborns. New imaging techniques allow for diagnosis of ICH even in asymptomatic babies. AIM: Analysis of prevalence and risk factors of ICH among full-term newborns requiring intensive care. MATERIAL AND METHOD: 397 full-term newborns hospitalized in tertiary Neonatal Intensive Care Unit were analyzed. Detailed neurological evaluation, head ultrasound and/or cerebrospinal fluid were done. RESULTS: ICH was diagnosed in 40 newborns. The most common clinical presentation was subarachnoid hemorrhage (n = 24). Multifocal bleeding was more frequent (28/40) than bleeding only to one brain compartment (12/40). In the first week of life bleeding to different compartments was observed, but in the 2nd week of life there was no bleeding to posterior fossa. Eleven newborns died due to ICH (parenchymal and subarachnoid ICH). Significant, independent ICH risk factors were: delivery complications (OR: 10.4: 95% CI: 3.7-29.6), scull bone fractures (OR: 44.4: 95% CI: 4-495), nuchal cord (OR: 6.4: 95% CI: 2.2-18.8), hemorrhagic diathesis (OR: 4.5: 95% CI: 1.2-17.5). CONCLUSIONS: Significant risk factors of ICH among full-term newborns requiring intensive care are: mechanical (scull bone fractures, labor complications) trauma, nuchal cord, hemorrhagic diathesis. In such cases the detailed neurological evaluation and imaging techniques should be used to exclude bleeding. Multifocal bleeding is the most common form of ICH. Because subarachnoid and subdural space are not easy visible by head ultrasound, the CT or MRI scans are recommended in babies with ICH.

Asunto(s)

Hemorragias Intracraneales/epidemiología , Femenino , Humanos , Recién Nacido , Hemorragias Intracraneales/diagnóstico por imagen , Complicaciones del Trabajo de Parto/epidemiología , Embarazo , Prevalencia , Factores de Riesgo , Convulsiones/epidemiología , Tomografía Computarizada por Rayos X

RESUMEN

OBJECTIVES: The clinical characteristic of attack is frequently difficult to unequivocal establishment by observation. It refers especially to seizures in youngest children, due to complicated attack morphology. VideoEEG as a diagnostic tool makes possible more precise establishment of seizures type and derivation. THE AIM: The aim of this analysis was to establish an importance of videoEEG for the differentiation of epileptic and non-epileptic attacks in neonates and youngest infants. MATERIALS: 20 children, 10 girls and 10 boys from the Neurological Division, the Neonatal Intensive Care Unit, the Intensive Care Unit, and the Division of Cardiology, admitted for examination between the 2000 and 2004 years in the Lab of Clinical Electrophysiology of the Department of Pediatric Neurology were included. The age of children, including 7 neonates, was at the moment of examination between 3 and 10 weeks. The first attack occurred between the first day of life and 7th week. In 15/20 of children features of encephalopathy were present. METHODS: The videoEEG recordings were provided in identical conditions, including place and personnel as well, using apparatus PL. 270 video option MedtronicDantec and camera Samsung with movable focus. The visual analysis was provided by two licensed in electrophysiology physicians and results were averaged. RESULTS: In 15/20 children clinical attacks were registered, including stereotypical seizures in 7 children and polimorphic seizures in 8 children. The most frequent attacks were apneic (11/ 20) and the registered seizures were generalised tonic (6/20) and focal (5/ 20). In 5 children attacks were not registered during examinations. In 2 children of this group the bioelectrical activity was also unchanged, whereas in 3 children the significant pathology was detected. Among 15 children with registered in videoEEG attacks, in 9 children ictal discharges were recorded, in 2 children burst-suppression discharges and in the remaining 4 children ictal changes of bioelectrical activity were not recorded. Interictal activity similar to ictal was detected in 2 children with burst-suppression discharges only, and in other cases it was differentiated. 2 of 4 children without discharges during attacks had also normal interictal activity, whereas in the remaining 2 children the immature low voltage flat activity was recorded. Among 9 children with ictal discharges, in 5 children interictal discharges were detected as well, whereas in 2 children only low-voltage activity with pathological features of sleep was detected, but in 2 children interictal activity was normal. The results of videoEEG and other tests allowed to recognized nn epileptic attacks in 5 children, probably epileptic in 1, epileptic seizures in 8 and epilepsy with genetic and hypoxic-ischaemic disorders in 6 children. CONCLUSION: The videoEEG allowed to register clinical seizures in the majority of youngest children with paroxysmal events, contributing to the diagnosis of tonic and polimorphic seizures and to the correct classification of apnoea. In 25% of children with and without registered clinical attacks, this examination allowed to diagnose non-epileptic attacks. To establish epilepsy, the ictal changes of bioelectrical activity were important and interictal as well.

Asunto(s)

Electroencefalografía , Convulsiones/diagnóstico , Grabación de Cinta de Video , Encéfalo/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Convulsiones/fisiopatología

RESUMEN

BACKGROUND: Thanatophoric dwarfism is a lethal bone dysplasia causing severe disturbance in body proportions, shortening and deformation of the long bones and maldevelopment of the chest leading to severe respiratory failure and early death. The disease is caused usually by de novo mutation in the gene of fibroblast growth factor receptor 3 (FGFR3). Inheritance is autosomal dominant. The most common mutation C742T leads to substitution of arginine by cysteine in 248 position of polypeptide (R248C). GOAL: Presentation of clinical picture, radiological findings and molecular diagnostics in three patients with TD hospitalized in PAIP in 1994-2000. PATIENTS: Three patients with TD were hospitalized in PAIP between 1994 and 2000. They were admitted in the 1st, 2nd, 19th day of life. Two patients were referred with diagnosis of achondroplasia. One newborn was born after uncomplicated pregnancy with cesarean section due to large head circumference found on prenatal USG. Two other newborns were born preterm (34 week of gestation), vaginally. One pregnancy was complicated by polyhydramnios. All patients required oxygen therapy, two were artificially ventilated (21 and 16 days). Three newborns died due to respiratory failure, average length of life--29 days. METHODS AND RESULTS: The diagnosis was established based on clinical presentation (abnormal proportions, shortening and deformation of the extremities, maldevelopment of the chest, large cranium) and radiological presentation (typical vertebral bodies, long bones shaped as telephone receiver). In two cases molecular analysis was performed, which excluded achondroplasia, in one of those patients molecular studies directly confirmed presence of the most common mutation leading to TD (R248C).

Asunto(s)

Proteínas Tirosina Quinasas , Displasia Tanatofórica/genética , Arginina/genética , Cisteína/genética , Análisis Mutacional de ADN , Resultado Fatal , Hospitalización , Humanos , Recién Nacido , Masculino , Mutación Puntual/genética , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos , Receptores de Factores de Crecimiento de Fibroblastos/genética , Receptores de Factores de Crecimiento de Fibroblastos/metabolismo , Displasia Tanatofórica/metabolismo , Displasia Tanatofórica/rehabilitación

RESUMEN

BACKGROUND: There exists little data on releasing Interleukin-10 (IL-10) and on the clinical usefulness of its measurements in very low birth weight (VLBW) infants. AIM: The evaluation of diagnostic and prognostic reliability of IL-10 measurement in VLBW infants with sepsis. METHODS: 87 newborns with the median birth weight (BW) 1060 g and median gestational age (GA) 28 wks were divided into 3 groups: A) with no clinical signs of sepsis in the first month of life-control group (n = 28), B) with clinical signs of sepsis but with negative blood cultures (n = 13), and C) with clinically and microbiologically confirmed sepsis (n = 46). In the control group IL-10 was measured on admission and in the 10th, 20th and 30th day of life. The remaining newborns had IL-10 measured when sepsis was suspected. RESULTS: IL-10 levels did not correlate with GA (R = -0.01) or BW (R = -0.04). In the control group there was no correlation between IL-10 levels and the calendar age. IL-10 levels were statistically higher in the group C than in the remaining ones (Me: 0 vs 1.32 vs 99.8 pg/ml). IL-10 level > 20 pg/ml allowed to distinguish between the group B and C with 79% sensitivity and 82% specificity. The highest levels of IL-10 were detected in the newborns who died of sepsis (Me = 889 pg/ml). IL-10 level > 680 pg/ml predicted the death of a newborn with 80% sensitivity and 100% specificity. CONCLUSIONS: IL-10 measurements possess a great diagnostic and prognostic reliability and allow the detection of newborns with poor outcome, thus the measurement of IL-10 may be useful in clinical practice.

Asunto(s)

Interleucina-10/metabolismo , Sepsis/diagnóstico , Sepsis/metabolismo , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Respiración Artificial , Insuficiencia Respiratoria/terapia , Sepsis/etiología , Factores de Tiempo

RESUMEN

OBJECTIVE: VLBW infants have a developmental lactase deficiency in the gut. The aim of the study was to evaluate the influence of lactose containing and lactose free diets on prevalence of feeding intolerance and Gram negative sepsis in VLBW infants. METHODS: 80 newborns with mean (+/- SEM) birth weight 1091 +/- 25 g and gestational age 28.5 +/- 0.24 wks were randomized into 2 groups fed during 1st month of life with 1) formula containing lactose (Bebilon Nenatal--BN group; n = 40) or 2) lactose free formula (Pregestimil--PG group; n = 40). The end points of the study were: feeding intolerance episodes, Gram negative sepsis, weight gain and the length of parenteral nutrition. RESULTS: The birthweight (1112 vs 1114 g), gestational age (28.8 vs 28.3 wks), 5th min. Apgar score (5 vs 6 pts), sex (52% vs 55% male), type of delivery (65 vs 58% vaginal delivery) did not differ between the groups. Thirty (75%) newborns of the BN group and 31 (77.5%) newborns of the PG group completed the study (RR = 1.11; 95% CI: 0.54-2.44). The prevalence of Gram negative sepsis were similar in both groups (2/40 vs. 3/40; RR = 0.67; 95% CI: 0.12-3.78). Also a comparable number of children had at least one episode of feeding intolerance (14/40 vs. 12/40; RR = 1.17; 95% CI: 0.69-2.20) The weight gain (11.7 vs 10.9 g/day) and the length of parenteral nutrition did not differ between the groups (16 vs 15 days). CONCLUSION: The inclusion of lactose into feeding formula does not influence feeding tolerance in VLBW infants.

Asunto(s)

Infecciones por Bacterias Gramnegativas/epidemiología , Intolerancia a la Lactosa/dietoterapia , Intolerancia a la Lactosa/epidemiología , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Masculino , Prevalencia

RESUMEN

UNLABELLED: The highest mortality due to necrotizing enterocolitis (NEC) in noted among low birth weight infants. Poor general medical condition of those children does not allow for major surgery despite obvious symptoms of perforation that usually require laparotomy. The aim of this study was assessment of the outcome of peritoneal drainage in complicated NEC in low birth weight infants. MATERIAL AND METHODS: Peritoneal drainage was employed in the treatment of fifteen children with perforated NEC between 1995 and 2002. Mean gestational age of studied newborns was 28.2 weeks, mean birth weight 1178 g (670-2540 g). RESULTS: Eight children survived. Their mean gestational age was 26.8 weeks, mean birth weight--876 g. Seven children died 1-15 days after the perforation. Their mean gestational age was 29.9 weeks, mean birth weight 1227 g. CONCLUSIONS: Survival of low birth weight infants with perforated NEC treated by the peritoneal drainage was 53.3%. The result doesn't seem to be very good unless we remember that before introduction of peritoneal drainage those children would probably die during surgery. Taking in account positive opinions about this method we may conclude that the use of peritoneal drainage could be extended to more patients with complications of NEC and should not be reserved for "hopeless" cases only.

Asunto(s)

Drenaje/métodos , Enterocolitis Necrotizante/cirugía , Laparotomía/métodos , Enterocolitis Necrotizante/etiología , Enterocolitis Necrotizante/mortalidad , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Perforación Intestinal/complicaciones , Cavidad Peritoneal , Tasa de Supervivencia

RESUMEN

BACKGROUND: A persistent progress in perinatal care and a large increase in infants' survival rate have been observed recently. As a result, the number of neonates requiring ophthalmologic examinations due to retinopathy of prematurity (ROP) increased as well. METHOD: A retrospective survey including 206 neonates with mean birth weight 1342 g and mean gestational age 30 weeks. MATERIAL: Three groups: 1) without ROP--165 infants (80.1%); 2) with ROP not requiring treatment--13 infants (6.3%); 3) with prethreshold and threshold ROP requiring cryotherapy--28 infants (13.6%) were analysed. RESULTS: Threshold ROP was not observed in infants with gestational age > 32 weeks and/or birth weight > 1500 g. Cryotherapy was applied between the 6th and 18th weeks of life (Mo: 12). The procedure was applied at postmenstrual age between the 34th and 45th weeks of life (Mo: 38). The correlation of ROP with the following factors was observed: length of mechanical ventilation (Me in the studied groups: 6; 22; 33 days respectively; p < 0.01), length of oxygen therapy (Me: 27; 58; 70 days; p < 0.01), number of blood transfusions in first month of life (Me: 2; 4; 4; p < 0.01), minimum pO2 (average: 37.2; 30.2; 29.2 mmHg p < 0.01), pO2 oscillation (measured as SD) (Me: 10.25; 13.2; 15.4 mmHg p < 0.016) and maximal pCO2 (average: 52.5; 56.8; 66.5 p < 0.01) between the 2nd and 4th weeks of life. CONCLUSION: Monitoring of pO2 and pCO2 in infants in the 1st month of life reduce the risk of ROP development. Infants born before the 32nd week of gestational age belong to high risk group and require very systematic ophthalmologic examination. The current prophylactic examination schedule for ROP for more mature infants may be changed.

Asunto(s)

Retinopatía de la Prematuridad/etiología , Puntaje de Apgar , Femenino , Edad Gestacional , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Masculino , Tamizaje Neonatal , Retinopatía de la Prematuridad/epidemiología , Factores de Riesgo