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Sindrome da microduplicazione 17p13.3, palatoschisi

NOSOCOMIAL INFECTIONS, EMERGING RESISTANCES SURVEILLANCE, NICU

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

15q13.3 microduplication syndrome, genomic rearrangment, gentotype-phenotype correlation

Candida spp., colonizzazione, UTIN

encefalopatia, disfunzione multirogano

Colonization and infection by multidrug-resistant gram-negative bacilli (MDR GNB) in neonatal intensive care units (NICUs) are increasingly reported.We conducted a 5-year prospective cohort surveillance study in a tertiary NICU of the hospital "Paolo Giaccone," Palermo, Italy. Our objectives were to describe incidence and trends of MDR GNB colonization and the characteristics of the most prevalent organisms and to identify the risk factors for colonization. Demographic, clinical, and microbiological data were prospectively collected. Active surveillance cultures (ASCs) were obtained weekly. Clusters of colonization by extended spectrum β-lactamase (ESBL) producing Escherichia coli and Klebsiella pneumoniae were analyzed by conventional and molecular epidemiological tools.During the study period, 1152 infants were enrolled in the study. Prevalences of colonization by MDR GNB, ESBL-producing GNB and multiple species/genera averaged, respectively, 28.8%, 11.7%, and 3.7%. Prevalence and incidence density of colonization by MDR GNB and ESBL-producing GNB showed an upward trend through the surveillance period. Rates of ESBL-producing E coli and K pneumoniae colonization showed wide fluctuations peaking over the last 2 years. The only independent variables associated with colonization by MDR GNB and ESBL-producing organisms and multiple colonization were, respectively, the days of NICU stay (odds ratio [OR] 1.041), the days of exposure to ampicillin-sulbactam (OR 1.040), and the days of formula feeding (OR 1.031). Most clusters of E coli and K pneumoniae colonization were associated with different lineages. Ten out of 12 clusters had an outborn infant as their index case.Our study confirms that MDR GNB are an increasing challenge to NICUs. The universal once-a-week approach allowed us to understand the epidemiology of MDR GNB, to timely detect new clones and institute contact precautions, and to assess risk factors. Collection of these data can be an important tool to optimize antimicrobials use and control the emergence and dissemination of resistances in NICU.

Introduction Multidrug-resistant organisms are a serious public health problem, particularly in critical hospital wards such as the Neonatal Intensive Care Units (NICUs). Hospitalized neonates are at high risk for healthcare-associated infections leading to higher morbidity and mortality rates, because of their poor immune defences, frequent exposure to antibiotics, invasive procedures and contacts with healthcare-workers. Our study aimed to evaluate the prevalence of colonization by methicillin-resistant Staphylococcus aureus (MRSA), multidrug-resistant Gram-negatives (MDRGNs) and fungi in the five NICUs of the city of Palermo. Methods From February 2014 to January 2015, an active surveillance culture (ACS) program was set up in the five NICUs of Palermo (ARNAS Civico-NICU1, Ingrassia Hospital-NICU2, Villa Sofia-Cervello Hospital-NICU3, Buccheri La Ferla Hospital-NICU4 and AOUP "Paolo Giaccone"-NICU5). From each patient nasal and rectal swabs were monthly collected to look for MRSA, MDRGNs and fungi. Swabs were pre-incubated at 37°C overnight in BHI enrichment broth, and cultured on selective media. Suspected S. aureus colonies were confirmed by cefoxitin susceptibility testing. MDRGNs were selected by antibiotic disk screening and tested to detect extended-spectrum beta-lactamase” (ESBL) and carbapenemase-producing isolates. For fungal detection swabs were directly inoculated on chloramphenicol-Sabouraud dextrose agar plates and incubated at 30°C for 72 hrs. Yeast-like colonies were identified by subculturing on CHROMagar Candida and eventually confirmed by the API20CAUX test. Prevalence rates of colonization of the different NICUs were compared by the chi-square test. Results The average daily number of hospitalized patients was 16 in NICU1, 9 in NICU2, 21 in NICU3, 15 in NICU4, 11 in NICU5. Prevalence of MRSA colonization ranged between 3.6% in NICU3 and 28.8% in NICU4, showing statistically significant differences between the NICUs. Prevalence of colonization by MDRGNs ranged between 53.9% for NICU1 and 14% for NICU4 with statistically significant differences between the NICUs. The most frequently isolated MDRGN organisms were Klebsiella pneumoniae, Escherichia coli and Enterobacter spp., with a prevalence between 1.9% and 57.2% for ESBL-producing and between 0% and 3.5% for carbapenemase-producing isolates. Fungal colonization was never detected in NICU2, whilst the highest prevalence values were 7.2% for C. albicans in NICU4 and 5.9% for non-albicans Candida spp. in NICU5. Statistically significant differences were found. Discussion Spread of multidrug-resistant organisms proved to affect all the NICUs under investigation, with a higher prevalence of MRSA in NICUs 4 and 2 and a higher prevalence of MDRGNs in NICUs 1 and 5. Fungal colonization prevalence was different between the NICUs with NICU4 being more affected by C.albicans and NICU5 by non-albicans Candida spp. These differences could be attributable to different structural and organizational characteristics and the recurrent epidemic spread of some organisms by cross-transmission. The widespread dissemination of MRSA and ESBL producing isolates and the emergence of carbapenem-resistant Enterobacteriaceae require a continuous effort in implementing preventive measures, control interventions and staff training.

L’atresia intestinale tipo III B (apple peel) e la gastroschisi sono entrambe malformazioni congenite che necessitano di correzione chirurgica precoce in epoca neonatale. La loro associazione è un evento molto raro. Presentiamo il caso di un neonato a termine con l’associazione di atresia ileale apple-peel parziale e piccolo difetto della parete addominale anteriore, complicate con perforazione intestinale in utero e conseguente peritonite meconiale. Abbiamo riscontrato un’atresia parziale delle anse intestinali, coninteressamento dell’ileo terminale e risparmio del digiuno e di buona parte dell’ileo prossimale, difetto della parete addominale di piccole dimensioni e con poche anse erniate, malrotazione intestinale. L’ileo paralitico e le infezioni rappresentano le maggiori cause di morbidità e mortalità in età neonatale. Nel nostro caso, a dispetto del fenotipo “mild”, la prognosi è stata complicata dall’instaurarsi di un quadro di occlusione intestinale funzionale, determinata dalla peritonite chimica attribuibile al danno da contatto con fluido amniotico da un lato e meconio dall’altro. 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 morbidity and mortality at neonatal age. In our case, in spite of the mild phenotype, prognosis has been complicated by the onset of functional bowel obstruction, caused by chemical peritonitis resulting from contact with either amniotic fluid and meconium

Gastroschisis is an abdominal wall defect, typically located to the right of the umbilical cord, requiring an early surgical treatment shortly after birth. Affected patients can be identified during intrauterine life with US and should be delivered in referral hospitals where a multisciplinary approach can be provided, involving neonatologists, clinical geneticists, surgeons and other specialists. These patients require a complex management in Neonatal Intensive Care Unit (NICU) and a long term follow-up after discharge. Exceed the acute neonatal condition, gastroschisis has a good prognosis, if there are no overlapping complications, and it should be differentiated from omphalocele, burdened with worse prognosis, and other conditions in the wide spectrum of abdominal wall defects.