Methemoglobinemia Associated with Late-Onset Neonatal Sepsis: A Single-Center Experience

Objective â Methemoglobinemia (MetHb) is a rare congenital or acquired cause of infantile cyanosis. We examined the role of MetHb in a neonatal intensive care unit (NICU). Study Design â A retrospective observational study was conducted reviewing blood gas analyses of hospitalized newborns over a 2-year period. MetHb-positive patients (MetHb >1.8%) were matched with a control group for gestational age, weight, disease, and illness severity at admission. Maternal, neonatal, clinical, and laboratory parameters were collected and analyzed in both groups. Results â MetHb incidence was 6%. The mean MetHb in the case group was 7.2%, and the first positive samples were observed at a mean of 22 days of life, 6 days prior to clinical or culture-proven sepsis. We identified low maternal age (31 vs. 34 years; p = 0.038), sepsis (90 vs. 45%; p = 0.022), and protracted parenteral nutrition (46 vs. 23 days; p = 0.013) as risk factors for MetHb, and early minimal enteral feeding as protective factor (12th vs. 9th day; p = 0.038). Conclusion â MetHb has a high occurrence in NICU and can be a helpful prognostic indicator of an infectious process. Understanding and prompt identification of MetHb can allow pediatricians to implement a life-saving therapy

Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery

Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA. They presented concomitant rib anomalies indicating a common developmental defect. Foreknowledge is important for planning thoracotomy or interventional cardiac catheterization in this population

Il dosaggio del lattato in neonati con distensione addominale come fattore prognostico di sindrome da compartimento addominale

L'ipertensione intraaddominale (IAH) e la risultante sindrome da compartimento addominale (ACS), caratterizzata da incremento della pressione >20 mmHg e insufficienza d’organo o multiorgano, sono state descritte in neonati con patologie addominali chirurgiche. La gestione effettiva e preventiva dell'IAH è associata a minore morbidità. In uno studio retrospettivo abbiamo analizzato 20 neonati con distensione addominale persistente per individuare fattori predittivi di IAH ed ACS. Il Gold-Standard della misurazione dell'IAH è la misurazione pressoria intravescicale ancora non standardizzata c/o le UTIN. Per definire l'IAH abbiamo quindi utilizzato il monitoraggio della saturazione di ossigeno (SpO2) prossimale e distale rispetto all’addome e 2 segni di compromissione d’organo (oliguria, ipotensione, insufficienza respiratoria, acidosi metabolica). Abbiamo riscontrato un rischio tendenzialmente elevato di disfunzione multiorgano e decesso in neonati di età gestazionale maggiore (p=0,09) e con una causa congenita di ACS (p<0,05), e in neonati in correzione con bicarbonati (p=0,05). Alti valori di lattato già al ricovero correlano con un deficit di basi maggiore nelle fasi avanzate di ACS (p<0,05) e con una distensione tardiva (p<0,05) associata, a sua volta, a valori di lattato più elevati nelle fasi di distensione ed acidosi (p<0,05) rispetto alla distensione precoce. Il lattato alla distensione è tendenzialmente più alto in chi avrà eventi più gravi (p=0,06) pur non correlando con il decesso (p=0,2). Solo nella fase successiva di acidosi i valori di lattato sono predittivi di decesso (p<0,05). In nessuna fase sono state riscontrate correlazioni con l’insufficienza respiratoria. L’unico fattore predittivo per un decorso sfavorevole è l’insulto tissutale perfusionale precoce misurato tramite il lattato che tuttavia non correla con il decesso perché probabilmente neonati, soprattutto con difetti della parete addominale, possono sopportare pressioni intraaddominali più elevate senza andare incontro ad insufficienza multiorgano. Al contrario sembra che neonati con ACS secondaria o con età gestazionale maggiore tollerino meno l’IAH sviluppando ACS a pressioni più basse poichè gli spazi intraaddominali sono già definiti

Early intestinal perforation secondary to congenital mesenteric defects

Gastrointestinal perforation (GIP) in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC), or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome), twinning, and use of assisted reproductive technologies. These cases prompted us to review our exploratory laparotomies performed for intestinal obstruction, complicated/or not with perforation, to identify the frequency of neonatal trans-mesenteric hernias in a referral hospital. The prevalence of GIP and of internal hernia was 25% and 3.3%, respectively. In conclusion, time-onset and particular conditions associated with GIP should lead to a high index of suspicion for internal hernias in order to achieve appropriate diagnosis and therapy

Management of multiple pregnancy with an affected twin

Newborns from multiple pregnancies demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is more frequent in twins and therefore birth weight is significantly lower compared to singletons [1]. Thus, twins are more exposed to prema- turity related diseases (respiratory, cardiovascular, infec- tious, etc.) and to long-term complications [2]. It is very difficult to estimate the increased risk of neonatal mor- bidity related to twinning independently to the increased risk of prematurity. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role. Fetal growth restriction [3] and congenital malformationsare major issues in offspring of multiple pregnancies. Specific risks vary according tozigosity (monozygotic >dizygotic) and kind (genetic, vascular, multifactorial, etc.) and site (systems and organs involved) of malformation. Accurate risk assessment strategies and adequate obstetrical-neonatological man- agement of multiple pregnancies may reduce the increasing need for neonatal intensive care and for health resources in the long-term follow-up that has been observed over the last decades. Careful analysis of both twins for a pathological condi- tion is mandatory to address the most appropriate man- agement. Twin discordance for the presence of a severe pathological condition raises serious concern in terms of bioethical and psychological impact on the parents and medical staff[4]. Different management choices can be considered: termination of pregnancy, selective embryo reduction of the affected twin, anticipation of delivery or natural course of the pregnancy. Each choicehides difficult clinical and legal implications. Accurate clinical, laboratory and ultrasonographic evaluation together with pregnancy follow-up are essential for reaching the correct diagnosis and consider prognosis and therapeutic options [5]. The risk of intrauterine death and potential risks for the other twin and the mother must be taken into account. Some- times it is possible to wait until the natural end of preg- nancy and then provide suitable treatment to the affected twin. Other times, parents opt to terminate the pregnancy and loose both twins. A selective reduction (after accurate evaluation of placentation) of the affected twin only carries a high risk of complication for the healthy twin, especially in monochorionic pregnancies. In the late third trimester of pregnancy, the option of a preterm delivery can be con- sidered and may contribute to the increase of prematurity and prematurity related diseases in twins. The management of multiple pregnancies is a very com- plex task for medical staff and requires parental support with adequate counselling and psychological help [6]

Genotyping and antifungal susceptibility of Dipodascus capitatus isolated in a neonatal intensive care unit of a sicilian hospital

In August 2015, Dipodascus capitatus was isolated from two patients admitted to the neonatal intensive care unit. Nosocomial acquisition of the fungus was suspected and epidemiological studies were undertaken. The patients were simultaneously hospitalized, and the comparison of the two isolates by two independent molecular typing methods have confirmed clonal dissemination of a single strain of D. capitatus. Antimicrobial susceptibility testing was useful for identifying the appropriated antifungal therapy in micafungin. To our knowledge these are the first described cases of neonatal D. capitatus infection and also the first report of successful treatment by micafungin.In August 2015, Dipodascus capitatus was isolated from two patients admitted to the neonatal intensive care unit. Nosocomial acquisition of the fungus was suspected and epidemiological studies were undertaken. The patients were simultaneously hospitalized, and the comparison of the two isolates by two independent molecular typing methods have confirmed clonal dissemination of a single strain of D. capitatus. Antimicrobial susceptibility testing was useful for identifying the appropriated antifungal therapy in micafungin. To our knowledge these are the first described cases of neonatal D. capitatus infection and also the first report of successful treatment by micafungin

Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.

Funder: Fondazione Fibrosi Cistica - FFC#1/2017Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. The 3272-26A>G and 3849+10kbC>T CFTR mutations alter the correct splicing of the CFTR gene, generating new acceptor and donor splice sites respectively. Here we develop a genome editing approach to permanently correct these genetic defects, using a single crRNA and the Acidaminococcus sp. BV3L6, AsCas12a. This genetic repair strategy is highly precise, showing very strong discrimination between the wild-type and mutant sequence and a complete absence of detectable off-targets. The efficacy of this gene correction strategy is verified in intestinal organoids and airway epithelial cells derived from CF patients carrying the 3272-26A>G or 3849+10kbC>T mutations, showing efficient repair and complete functional recovery of the CFTR channel. These results demonstrate that allele-specific genome editing with AsCas12a can correct aberrant CFTR splicing mutations, paving the way for a permanent splicing correction in genetic diseases