Altiok E.,Acibadem University |
Altiok E.,Okan University |
Aksoy F.,Cerrahpasa Medical School |
Perk Y.,Neonatology Unit |
And 6 more authors.
Clinical Immunology | Year: 2012
Deficiency of the IL-1 receptor antagonist (DIRA) is a recently described rare autoinflammatory disease, caused by loss of function mutations in IL1RN leading to the unopposed activation of the IL-1 pathway. We describe a novel nonsense mutation in the IL1RN gene, associated with early intrauterine onset, death and multiorgan involvement in a prematurely born baby. The protein prediction model indicated that the novel Q119X mutation would result in a nonfunctional protein by impairing the ability of the IL-1Ra to bind and antagonize signaling through the IL-1R. Since the disorder may mimic severe bacterial infections and the treatment with anakinra is life saving, we intend to raise awareness of the syndrome and the possibility of a founder mutation that may lead to the diagnosis of additional cases in Turkey. The clinical suspicion of DIRA is critical to avoid improper management of the patients with antibiotics alone and death from multiorgan failure. © 2012 Elsevier Inc.
PubMed | University of San Pablo - CEU, RSUH andalusian Health Service, Experimental Unit Cordoba Health District Andalusian Health Service, Neonatology Unit and University of Cordoba, Spain
Type: Journal Article | Journal: European journal of pediatrics | Year: 2016
We aimed to establish the utility of serum cytosolic -glycosidase (CBG) assay as a NEC diagnosis tool. CBG activity has been compared in 192 NEC-free (NEC(-)) and 13 NEC-affected (NEC(+)) neonates, with modified Bells stages II/III, born at Reina Sofia University Hospital; additional blood hematology, microbiology, and biochemical parameters have been assayed. NEC(+) neonates have higher serum CBG activity, 26.412.4mU/mg; 95% CI (18.8-33.9), than NEC(-) infants, 11.06.6mU/mg; 95% CI (10.1-11.9) (p<0.0001). The CBG cutoff value in the ROC curve, 15.6mU/mg, discriminates NEC(+)/NEC(-) infants with 84.6% sensitivity, 85.9% specificity, 37.9 positive predictive value and 98.2 negative predictive value, 6.11 positive likelihood ratio and 0.18 negative likelihood ratio, 33.61 DOR, and 0.89 AUC. A combined panel [CBG+aspartate aminotransferase+C-reactive protein] shows a 0.90 AUC value in multiple linear regressions.The serum CBG level is a good NEC diagnosis test and a novel NEC biomarker which may become a screening tool.NEC affects 2.5% of infants at NICU, 90% of them weighing <1500g. NEC requires a careful differential diagnosis, being lethal if not diagnosed and treated. What is new: CBG assay will be useful to determine infants without NEC and preventing unnecessary treatment. CBG assay could discriminate NEC better than other gut-specific sera protein biomarkers.
Zingg W.,University of Geneva |
Tomaske M.,Neonatology Unit |
Martin M.,Albert Ludwigs University of Freiburg
Nutrients | Year: 2012
Healthcare-associated infections (HAI) in preterm infants are a challenge to the care of these fragile patients. HAI-incidence rates range from 6 to 27 infections per 1000 patient-days. Most nosocomial infections are bloodstream infections and of these, the majority is associated with the use of central venous catheters. Many studies identified parenteral nutrition as an independent risk factor for HAI, catheter-associated bloodstream infection, and clinical sepsis. This fact and various published outbreaks due to contaminated parenteral nutrition preparations highlight the importance of appropriate standards in the preparation and handling of intravenous solutions and parenteral nutrition. Ready-to-use parenteral nutrition formulations may provide additional safety in this context. However, there is concern that such formulations may result in overfeeding and necrotizing enterocolitis. Given the risk for catheter-associated infection, handling with parenteral nutrition should be minimized and the duration shortened. Further research is required about this topic. © 2012 by the authors; licensee MDPI, Basel, Switzerland.
PubMed | Medical Genetics Unit, University of Bologna and Neonatology Unit
Type: Journal Article | Journal: Human molecular genetics | Year: 2016
A Down Syndrome critical region (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6-8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We propose an innovative, systematic reanalysis of all described PT21 cases (from 1973 to 2015). In particular, we built an integrated, comparative map from 125 cases with or without DS fulfilling stringent cytogenetic and clinical criteria. The map allowed to define or exclude as candidates for DS fine Hsa21 sequence intervals, also integrating duplication copy number variants (CNVs) data. A highly restricted DSCR (HR-DSCR) of only 34 kb on distal 21q22.13 has been identified as the minimal region whose duplication is shared by all DS subjects and is absent in all non-DS subjects. Also being spared by any duplication CNV in healthy subjects, HR-DSCR is proposed as a candidate for the typical DS features, the intellectual disability and some facial phenotypes. HR-DSCR contains no known gene and has relevant homology only to the chimpanzee genome. Searching for HR-DSCR functional loci might become a priority for understanding the fundamental genotype-phenotype relationships in DS.
Al Oum M.,University of Insubria |
Donati S.,University of Insubria |
Cerri L.,University of Insubria |
Agosti M.,Neonatology Unit |
Azzolini C.,University of Insubria
Clinical Ophthalmology | Year: 2014
Purpose: To investigate cycloplegic refraction and ocular alignment in a population of preterm children at 1 and 6 years old. Patients and methods: We included 261 preterm infants with a birth weight ≤1,500 g and a gestational age ≤32 weeks; there were 217 preterm infants (group 1), 28 preterm infants with mild retinopathy of prematurity (ROP) (group 2), and 16 preterm infants affected by severe ROP (group 3). Each patient underwent retinoscopy, ocular alignment assessment, and fundus examination at 1 and 6 years old. Results: The prevalence of refractive errors and ocular alignment abnormalities at 1 year old in groups 2 and 3 compared to group 1 were, respectively (P<0.05): myopia 18% and 40.6% versus 6.9%; hyperopia 28.6% and 22% versus 39.2%; astigmatism 53.4% and 37.4% versus 53.9%; and strabismus 12.5% and 38% versus 5.3%. At 6 years old, they were, respectively (P<0.05): myopia 10.8% and 28.4% versus 7.4%; hyperopia 48.3% and 40.5% versus 62%; astigmatism 40.9% and 31.1% versus 30.6%; and strabismus 25% and 56.25% versus 11.5%. Conclusion: At 6 years old, we observed increased rates of both hyperopia and strabismus in all groups compared to 1-year-old children. In preterm children with mild and severe ROP, we recorded increased rates of myopia and strabismus versus preterm children without ROP, and the risk of developing these disorders increased significantly with ROP severity. Astigmatism at 1 year old is not predictive of further development during growth. Patients born prematurely should be informed of the possible risks of ocular alterations due to refractive and ocular component changes. © 2014 Al Oum et al.
Megarbane A.,Saint - Joseph University |
Mehawej C.,Saint - Joseph University |
Zahr A.E.,Neonatology Unit |
Haddad S.,Hotel Dieu Of France Hospital |
Cormier-Daire V.,Necker Hospital
American Journal of Medical Genetics, Part A | Year: 2014
We report on a consanguineous Lebanese family in which two sibs had pre- and post-natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac bones, horizontal acetabula, trident acetabula, hypoplastic ischia, partial agenesis of the sacrum, ribs with cupped ends, short long bones with abnormal modeling, slight widening of the distal femoral metaphyses, and delayed epiphyseal ossification. Both sibs had a severe cardiomegaly and died at around 24 months from a heart failure. Differential diagnosis suggests that this is a second family presenting a newly described early lethal chondrodysplasia first reported by [Mégarbané et al. (2008); Am J Med Genet Part A 146A:2916-2919]. © 2014 Wiley Periodicals, Inc.
Alvarado-Socarras J.L.,Neonatology Unit |
Idrovo A.J.,Industrial University of Santander |
Bermon A.,Fundacion Cardiovascular de Colombia
Jornal de Pediatria | Year: 2016
Objective: To evaluate the differences in hospital survival between modes of transport to a tertiary center in Colombia for critically ill neonates. Methods: Observational study of seriously ill neonates transported via air or ground, who required medical care at a center providing highly complex services. Data on sociodemographic, clinical, the Transport Risk Index of Physiologic Stability (TRIPS), and mode of transport were collected. Patients were described, followed by a bivariate analysis with condition (live or dead) at time of discharge as the dependent variable. A multiple Poisson regression with robust variance model was used to adjust associations. Results: A total of 176 neonates were transported by ambulance (10.22% by air) over six months. The transport distances were longer by air (median: 237.5. km) than by ground (median: 11.3. km). Mortality was higher among neonates transported by air (33.33%) than by ground (7.79%). No differences in survival were found between the two groups when adjusted by the multiple model. An interaction between mode of transport and distance was observed. Live hospital discharge was found to be associated with clinical severity upon admittance, birth weight, hemorrhaging during the third trimester, and serum potassium levels when admitted. Conclusions: Mode of transport was not associated with the outcome. In Colombia, access to medical services through air transport is a good option for neonates in critical condition. Further studies would determine the optimum distance (time of transportation) to obtain good clinical outcomes according type of ambulance. © 2016 Sociedade Brasileira de Pediatria.
PubMed | Neonatology Unit and Cognition and Development Laboratory
Type: Journal Article | Journal: Developmental science | Year: 2016
To understand language, humans must encode information from rapid, sequential streams of syllables - tracking their order and organizing them into words, phrases, and sentences. We used Near-Infrared Spectroscopy (NIRS) to determine whether human neonates are born with the capacity to track the positions of syllables in multisyllabic sequences. After familiarization with a six-syllable sequence, the neonate brain responded to the change (as shown by an increase in oxy-hemoglobin) when the two edge syllables switched positions but not when two middle syllables switched positions (Experiment 1), indicating that they encoded the syllables at the edges of sequences better than those in the middle. Moreover, when a 25ms pause was inserted between the middle syllables as a segmentation cue, neonates brains were sensitive to the change (Experiment 2), indicating that subtle cues in speech can signal a boundary, with enhanced encoding of the syllables located at the edges of that boundary. These findings suggest that neonates brains can encode information from multisyllabic sequences and that this encoding is constrained. Moreover, subtle segmentation cues in a sequence of syllables provide a mechanism with which to accurately encode positional information from longer sequences. Tracking the order of syllables is necessary to understand language and our results suggest that the foundations for this encoding are present at birth.
Bednarek N.,Neonatology Unit |
Mathur A.,Washington University in St. Louis |
Inder T.,Washington University in St. Louis |
Wilkinson J.,Washington University in St. Louis |
And 2 more authors.
Neurology | Year: 2012
Objective: The objective of this work was to determine the impact of therapeutic hypothermia (TH) on the magnitude and time course of mean diffusivity (MD) changes following hypoxic-ischemic encephalopathy (HIE) in newborns. Methods: Cerebral MRI scans of infants undergoing whole body TH for HIE from 2007 to 2010 were retrospectively reviewed. The data were analyzed identically to a control group of newborns with HIE previously published, prior to the development of TH. Anatomic injury was defined on T1-and T2-weighted ("late") MRI obtained after the fifth day of life. Since MD values vary regionally, the ratios of MD values for injured and normal tissue were calculated for areas of injury. Normal values were obtained from corresponding brain regions of 12 infants undergoing TH who had no injury on MRI studies. Results: Twenty-three of 59 infants who underwent TH and MRI displayed cerebral injury on late MRI and were included in the study. MD ratios were decreased in all injured infants within the first 7 days of life. The return of MD to normal (pseudonormalization) occurred after the tenth day as compared to 6-8 days in the control group. Infants with severest injury demonstrated greater reduction in MD, but no difference in time to pseudonormalization. Conclusion: TH slows the evolution of diffusion abnormalities on MRI following HIE in term infants. Copyright © 2012 by AAN Enterprises, Inc.
Vitaliti S.M.,Neonatology Unit
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians | Year: 2012
The authors after a brief introduction on the development of the perception of pain in the fetus and newborn, focus attention on the problem of painful procedures that are performed in the neonatal intensive care units reported in the scientific literature. Then report the design of the double-blind study that is taking place from February 2012 at the NICU ARNAS Civic - Palermo using three different concentrations of sucrose as analgesia during venipuncture and heel puncture in term neonates.