Search results for "Neon"
showing 10 items of 760 documents
NOTCH, a new signaling pathway implicated in holoprosencephaly.
2011
International audience; Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been implicated in HPE belong to the sonic hedgehog signaling pathway. Here we describe a new candidate gene isolated from array comparative genomic hybridization redundant 6qter deletions, DELTA Like 1 (DLL1), which is a ligand of NOTCH. We show that DLL1 is co-expressed in the developing chick forebrain with Fgf8. By treating chick embryos with a pharmacological inhibitor, we demonstrate that DLL1 interacts with FGF signaling pathway. Moreover, a mutation analysis of DLL1 in HPE patients revealed a three-nucleoti…
Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect.
2014
Intestinal atresia type III B (apple peel) and gastroschisis are both congenital malformations who require early surgical correction in neonatal age. Their association is very rare. We present the case of a full term infant with partial apple peel ileal atresia and a small defect of the anterior abdominal wall, complicated by in utero intestinal perforation and subsequent meconial peritonitis. We observed a partial atresia of small intestine, with involvement of terminal ileus savings of jejunum and a large part of the proximal ileum, small anterior abdominal wall defect with herniation of few bowel loops, intestinal malrotation. Paralytic ileus and infections are the main causes of morbidi…
Methicillin-resistant Staphylococcus aureus nasal colonization in a level III neonatal intensive care unit: Incidence and risk factors
2015
Objective: To describe epidemiologic features and identify risk factors for methicillin-resistant Staphylococcus aureus (MRSA) acquisition in a level III neonatal intensive care unit (NICU). Setting: A prospective, cohort study in a university-affiliated NICU with an infection control program including weekly nasal cultures of all neonates. Methods: Demographic, clinical, and microbiologic data were prospectively collected between June 2009 and June 2013. Molecular characterization of MRSA isolates was done by multilocus variable number tandem repeat fingerprinting, staphylococcal cassette chromosome mec typing, and on representative isolates by multilocus sequence typing and s. pa typing. …
Methicillin-resistant Staphylococcus aureus colonization: a three-year prospective study in a neonatal intensive care unit in Italy.
2014
Background: Methicillin resistant Staphylococcus aureus (MRSA) is a major etiological agent of infection in neonatal intensive care units (NICUs). Routes of entry of this organism can be different and the transmission pathway complex. Colonized neonates are the main endogenous reservoir. Methods and Results: We conducted a prospective three-year study on MRSA colonization recruiting 722 neonates admitted between 2009 and 2012. Nasal swabs were cultured weekly and MRSA isolates were submitted to molecular typing. The annual incidence density of acquisition of MRSA ranged from a maximum of 20.2 cases for 1000 patient-days during the first year to a minimum of 8.8 cases in the second one to ra…
Successful control of a Methicillin-resistant Staphylococcus aureus outbreak in a neonatal intensive care unit: a retrospective, before-after study
2013
International audience; Background : Aim of this study was to provide a detailed description of a Methicillin-resistant Staphylococcus aureus (MRSA) outbreak management strategy in the neonatal intensive care unit of a university hospital.MethodsThis was a retrospective, “before-after” study, over two consecutive 18-month periods. The outbreak management strategy was performed by a multidisciplinary team and included: extensive healthcare workers (HCW) involvement, education, continuous hand-hygiene training and active MRSA colonization surveillance. The actions implemented were identified based on an anonymous, voluntary, reporting system, carried out among all the HCW, and regular audit a…
Neonatal sepsis caused by Ralstonia pickettii
2008
e describe the clinical case of apremature newborn, born at 26weeks by cesarean delivery, followed inthe neonatal intensive care unit. Themother was diabetic with adequate con-trol during pregnancy.Neonatal weight was 930 g;APGAR score 3 at 1 minute and 8 at 5minutes. She received forced ventilationby endotracheal tube and parenteralnutrition by a central venous catheter.She was treated with ampicillin for thefirst 20 days of life. At 25 days, apneaand bradychardia episodes occurredwith a progressive increment in sever-ity and frequency. Leukocytes, C-re-active protein, cerebral echography,and echocardiogram were normal.Oralfeeding was transiently stopped and rani-tidine treatment was starte…
Paternal symptoms of anxiety and depression in the first month after childbirth: A comparison between fathers of full term and preterm infants
2020
Abstract Background Although men have a higher risk of developing a mental disorder during the perinatal period, few studies have focused on new fathers’ mental health screening. This study compares anxiety and depression symptoms between fathers with newborn infants in the neonatal intensive care unit (NICU) and fathers of healthy full-term infants, assessing the impact of stress caused by the NICU.. Methods A longitudinal and prospective study with control (n= 33) and study groups (n=51) was designed. The dependent variables assessed were post-natal depression and anxiety-state while the social and demographic information, health background and the parental stress in the neonatal unit wer…
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
2021
AbstractNecrotizing enterocolitis (NEC) is a typical disorder of preterm newborns, with a high mortality and morbidity rate. The therapeutic and nutritional management of disease depends on several factors. Its prognosis is linked, in addition to the severity of the disease and the need for surgery, to a correct enteral feeding in these patients. This study aims to identify the clinical characteristics of 18 patients with NEC, evaluating the different therapeutic paths undertaken, the type of formula used and the survival rate of this population. Average time of enteral nutrition before the NEC onset was 11,3 ± 11,6 days, with an average fasting period since the onset of 24 ± 18.9 days. 77.…
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
2004
International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, t…
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
2014
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…