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Preterm infants are at risk of hypoxia and hyperoxia because of the immaturity of their respiratory and antioxidant systems, linked to increased morbidity and mortality. This study aimed to evaluate the efficacy of a single administration of the SLAB51 probiotic formula in improving oxygenation in respiratory distress syndrome (RDS)-affected premature babies, thus reducing their need for oxygen administration. Additionally, the capability of SLAB51 in activating the factor-erythroid 2-related factor (Nrf2) responsible for antioxidant responses was evaluated in vitro. In two groups of oxygen-treated preterm infants with similar SaO2 values, SLAB51 or a placebo was given. After two hours, the SLAB51-treated group showed a significant increase in SaO2 levels and the SaO2/FiO2 ratio, while the control group showed no changes. Significantly increased Nrf2 activation was observed in intestinal epithelial cells (IECs) exposed to SLAB51 lysates. In preterm infants, we confirmed the previously observed SLAB51's "oxygen-sparing effect", permitting an improvement in SaO2 levels. We also provided evidence of SLAB51's potential to enhance antioxidant responses, thus counteracting the detrimental effects of hyperoxia. Although further studies are needed to support our data, SLAB51 represents a promising approach to managing preterm infants requiring oxygen supplementation. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with multifactorial etiology, characterized by impairment in two main functional areas: (1) communication and social interactions, and (2) skills, interests and activities. ASD patients often suffer from gastrointestinal symptoms associated with dysbiotic states and a "leaky gut." A key role in the pathogenesis of ASD has been attributed to the gut microbiota, as it influences central nervous system development and neuropsychological and gastrointestinal homeostasis through the microbiota–gut–brain axis. A state of dysbiosis with a reduction in the Bacteroidetes/Firmicutes ratio and Bacteroidetes level and other imbalances is common in ASD. In recent decades, many authors have tried to study and identify the microbial signature of ASD through in vivo and ex vivo studies. In this regard, the advent of metabolomics has also been of great help. Based on these data, several therapeutic strategies, primarily the use of probiotics, are investigated to improve the symptoms of ASD through the modulation of the microbiota. However, although the results are promising, the heterogeneity of the studies precludes concrete evidence. The aim of this review is to explore the role of intestinal barrier dysfunction, the gut–brain axis and microbiota alterations in ASD and the possible role of probiotic supplementation in these patients. [ABSTRACT FROM AUTHOR]

Background: The study aims to describe the lingual laser frenotomy perioperative protocol for newborns with ankyloglossia with or without breastfeeding difficulties developed by Odontostomatology and Neonatology and Neonatal Intensive Care Units of the Aldo Moro University of Bari. Methods: Authors carried out a prospective observational cohort study. Newborns with ankyloglossia (classified by using both Coryllos' and Hazelbaker's criteria) with or without difficult breastfeeding (according to Infant Breastfeeding Assessment Tool) underwent diode laser frenotomy (800 ± 10 nm; 5 W; continuous wave mode; contact technique; under topical anesthesia) and follow-up visits after seven and thirty days postoperatively. The authors analyzed as main outcomes the perioperative pain intensity measured by the C.R.I.E.S. scale, the occurrence of complications and quality of healing, the quality of breastfeeding, newborn's postoperative weight gain, maternal nipple pain, and the presence of lesions as secondary outcomes. Results: Fifty-six newborns were included in the current study. Intraoperative mean pain intensity was 5.7 ± 0.5 points, resolved within thirty postoperative minutes. Observed complications were mild punctuating bleeding, carbonization of the irradiated site, and transitory restlessness. All wounds were completely healed within the thirtieth postoperative day. During follow-up, a significant breastfeeding improvement was evident with satisfactory newborns' weight gain and a significant reduction of nipple pain and lesions (p <.05). Conclusion: Our lingual laser frenotomy protocol provided significant breastfeeding improvement in the mother-newborn dyads with low intraoperative pain and no significant complications. [ABSTRACT FROM AUTHOR]

(1) Background: In our previous study, acute ischemic stroke (AIS) patients showed increased levels of circulating miRNAs (-195-5p and -451a) involved in vascular endothelial growth factor A (VEGF-A) regulation. Here, we evaluated, for the first time, both circulating miRNAs in acute intracerebral hemorrhagic (ICH) patients. (2) Methods: Circulating miRNAs and serum VEGF-A were assessed by real-time PCR and ELISA in 20 acute ICH, 21 AIS patients, and 21 controls. These were evaluated at hospital admission (T0) and after 96 h (T96) from admission. (3) Results: At T0, circulating miRNAs were five-times up-regulated in AIS patients, tending to decrease at T96. By contrast, in the acute ICH group, circulating miRNAs were significantly increased at both T0 and T96. Moreover, a significant decrease was observed in serum VEGF-A levels at T0 in AIS patients, tending to increase at T96. Conversely, in acute ICH patients, the levels of VEGF-A were significantly decreased at both T0 and T96. (4) Conclusions: The absence of a reduction in circulating miRNAs (195-5p and -451a), reported in acute ICH subjects after 96 h from hospital admission, together with the absence of increment of serum VEGF-A, may represent useful biomarkers indicating the severe brain damage status that characterizes acute ICH patients. [ABSTRACT FROM AUTHOR]

Pneumothorax in newborns can be life-threatening. The traditional treatment of pneumothorax is chest drain placement. Recently, modified pigtail catheter has been proposed as a less traumatic approach despite limited experience in infants. To compare the effectiveness and safety of pigtail catheters versus traditional straight chest drains in term and preterm infants with pneumothorax, in two tertiary neonatal units: Policlinico Hospital in Bari, IT and John Radcliffe Hospital in Oxford, UK. We retrospectively reviewed medical records of 47 newborns with pneumothorax admitted to the two units between October 2009 and June 2017, and treated with either pigtail catheters or straight chest drains. Three newborns (6.7%) were excluded from the study because they were treated with both types of drains. The remaining 44 neonates were included in the analysis. Overall, 56.8% (n = 25/44) of pneumothoraces were drained with pigtail catheters and 43.2% (n = 19/44) with straight drains. No differences in gestational age and birth weight were found. The success rate, defined as complete radiological resolution of the pneumothorax after drainage, was significantly higher in the pigtail group (96.0% versus 73.7%; p < 0.05). Days of drainage, length of hospital stay and duration of respiratory support were not significantly different. Subcutaneous emphysema and drain dislodgement/malfunction occurred only in the straight drain group (0.0% versus 11.1%; p = 0.181). No significant differences in mortality between the two groups were found (28.0% pigtail group versus 26.3% straight drain group; p > 0.05).Conclusion: Pigtail catheters are a safe and effective alternative to traditional chest drains for infants with pneumothorax. What is Known:• Air leaks in newborns can represent an emergency, especially among preterms;• The first treatment in a life-threatening pneumothorax is thoracentesis with needle aspiration or placement of a chest drain.What is New:• Pigtail catheter have been described as an alternative to traditional chest drains;• Pigtail catheters are a safe and effective alternative to traditional chest drains for infants with pneumothorax. [ABSTRACT FROM AUTHOR]

Background: Pulmonary disorders and respiratory failure represent one of the most common morbidities of preterm newborns admitted to neonatal intensive care units (NICUs). The use of nasal high-flow therapy (nHFT) has been more recently introduced into the NICUs as a non-invasive respiratory (NIV) support. Methods: We performed a retrospective study to evaluate safety and effectiveness of nHFT as primary support for infants born < 29 weeks of gestation and/or VLBW presenting with mild Respiratory Distress Syndrome (RDS). The main outcome was the percentage of patients that did not need mechanical ventilation. Secondary outcomes were rate of bronchopulmonary dysplasia (BDP), air leaks, nasal injury, late onset sepsis (LOS), intraventricular hemorrhage (IVH), retinopathy (ROP), necrotizing enterocolitis (NEC), hemodynamically-significant patent ductus arteriosus (PDA) and death. Results: Sixty-four preterm newborns were enrolled. Overall, 93% of enrolled patients did not need mechanical ventilation. In a subgroup analysis, 88.5% of infants < 29 weeks and 86.7% of infants ELBW (< 1000 g BW) did not need mechanical ventilation. BPD was diagnosed in 26.6% of preterms enrolled (Mild 20%, Moderate 4.5%, Severe 1.5%). In subgroup analysis, BPD was diagnosed in 53.9% of newborns with GA < 29 weeks, in 53.3% of ELBW newborns and in 11.1% of small for gestational age (SGA) newborns. Neither air leaks nor nasal injury were recorded as well as no exitus occurred. LOS, IVH, ROP, NEC and PDA occurred respectively in 16.1%, 0%, 7.8%, and 1.6% of newborns. Conclusions: According to our results, n-HFT seems to be effective as first respiratory support in preterm newborns with mild RDS. Further studies in a larger number of preterm newborns are required to confirm nHFT effectiveness in the acute phase of RDS. [ABSTRACT FROM AUTHOR]

Kasabach-Merritt Syndrome (KMS) is a rare clinical entity, found in 1% of angiomatous lesions, characterized by severe consumption coagulopathy/thrombocytopenia in association with highly aggressive neonatal vascular lesions. We describe a case of prenatally diagnosed vascular neoformation of the neck, revealed by obstetric ultrasound and then confirmed by fetal Magnetic Resonance, with subsequent onset of KMS at birth. The newborn was treated with Propanolol and Prednisone, without any benefit; Magnetic Resonance (MRI) at day 14 of life confirmed the hypervascularized lesion of about 6x7x6 cm on the right laterocervical site. Sirolimus therapy was then initiated leading to rapid improvement in thrombocytopenia and a volumetric reduction of the vascular lesion on MRI. After 12 months of treatment, MRI scan showed a further reduction in volume of the vascular lesion; also, the KMS-related thrombocytopenia was completely resolved: Sirolimus could represent the first line of treatment of vascular lesions in the neonatal age. [ABSTRACT FROM AUTHOR]

Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with increased CD4/CD8 ratio. By array-CGH, we identified a 4.08 de novo interstitial deletion of the 14q13.2q21.1 region, which includes 16 OMIM genes.Our patient phenotype is compared with other published cases, for a better classification of the 14q11-q22 deletion syndrome. We demonstrated that the 14q13.2q21.1 deletion, which encompasses NKX2-1, but not FOXG1 gene and HPE8 region, identifies a well defined, more benign, microdeletion syndrome. This report confirms that an early identification with accurate characterization of the genomic disorders is of great relevance, enabling proper genetic counseling of the reproductive risk, as well as disease prognosis, and patient management. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Cystic hygroma and lymphangioma, currently defined as 'lymphatic malformations', are developmental abnormalities of the lymphoid system with potential for rapid expansion. The management of these abnormalities depends on the site and extent of the lesion. A different disease is diffuse lymphangiomatosis. It is very rare at birth and its treatment remains controversial. A lymphatic malformation (cystic hygroma) of the neck of a newborn girl as the first sign of diffuse lymphangiomatosis and treatment of the latter condition with sirolimus are presented. A newborn girl with a presumed isolated lymphatic malformation of the neck and significant respiratory involvement was diagnosed via total-body nuclear magnetic resonance imaging to be affected by diffuse lymphangiomatosis; she was treated with sirolimus. The treatment with sirolimus was found to be very effective, with complete resolution of the disease, good tolerability, and no side effects. This report suggests the need to explore the possibility of diffuse lymphangiomatosis in neonates with apparently isolated lymphatic malformations. In the presence of clinical deterioration, sirolimus treatment may achieve excellent results with no adverse events. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The relationship between serum uric acid (UA) and cardiovascular risk profile was investigated in 557 outpatients (415 women) aged 60 years and older. Patients were grouped according to a UA cutoff level of 5.5 mg/dL. Prevalence of obesity, hypertension, and impaired glucose metabolism was increased in women with higher UA, who had higher body mass index (37.7±6.9 vs 33.1±5.9 kg/m(2) , P<.001), waist circumference, and serum glucose and triglyceride concentrations than women with lower UA levels. Conversely, men with higher UA levels showed lower high-density lipoprotein cholesterol and higher left ventricular mass than men with lower UA levels. Estimated glomerular filtration rate was reduced in patients with high UA levels of both sexes (65±17 vs 72±16 mL/min/1.73 m(2) , P<.001, for women; 70±16 vs 76±15 mL/min/1.73 m(2) , P<.03, for men). Grouping patients by sex-specific median UA concentrations produced similar results. These data indicate that, even in the elderly, UA clusters in a sex-specific fashion with features of metabolic syndrome and signs of target organ damage. [ABSTRACT FROM AUTHOR]

Aim. To evaluate the influence of selected maternal and neonatal characteristics on aorta walls in term, appropriately grownfor-gestational age newborns. Methods. Age, parity, previous abortions, weight, height, body mass index before and after delivery, smoking, and history of hypertension, of diabetes, of cardiovascular diseases, and of dyslipidemia were all assessed in seventy mothers. They delivered 34 males and 36 females healthy term newborns who underwent ultrasound evaluation of the anteroposterior infrarenal abdominal aorta diameter (APAO), biochemical profile (glucose, insulin, total cholesterol, HDL and LDL cholesterol, triglycerides, fibrinogen, and D-dimers homeostasis model assessment [HOMAIR]index), and biometric parameters. Results. APAO was related to newborn length (r = +0.36; P = 0.001), head circumference (r = +0.37; P = 0.001), gestational age (r = +0.40, P = 0.0005), HOMA index (r = +0.24; P = 0.04), and D-dimers (r = +0.33, P = 0.004). Smoke influenced APAO values (odds ratio: 1.80; confidence interval 95%: 1.05-3.30), as well as diabetes during pregnancy (r = +0.42, P = 0.0002). Maternal height influenced neonatal APAO (r = +0.47, P = 0.00003). Multiple regression analysis outlined neonatal D-dimers as still significantly related to neonatal APAO values. Conclusions. Many maternal and neonatal characteristics could influence aorta structures. Neonatal D-dimers are independently related to APAO. [ABSTRACT FROM AUTHOR]

Fetal midgut volvulus is a quite rare disease. Here, we report a case of a preterm newborn with fetal peritonitis, jejunal atresia with volvulus of post-atresic small bowel since about 30 cm from ileo-cecal valve (ICV) followed by a not-used microileus and microcolon. The surgical intervention consisted in the resection of volvulated necrotic small bowel followed by primary anastomosis. After surgery, total parenteral nutrition (TPN) has been started since 16th of post-operative days when enteral feeding (EN) was administered with a lactose-free formula containing hydrolyzed protein and medium-chain triglycerides (Pregestimil). Re-establishing intestinal continuity was preferred rather than stoma that would have required TPN. In fact, re-operation could have led to a shorter residual small bowel (RSB), since the anastomosis was at 15 cm from ICV. Our study provides evidence that not only the type of procedure (enteral versus parenteral) of nutritional support, but also the type of milk may modify the outcome. Early EN should be encouraged in newborn abdominal surgical patients because it is associated with reduced complications. [ABSTRACT FROM AUTHOR]

A hypercoagulable state has been described in thalassemia patients, partly due to a deficiency of inhibitors, protein C (PC) in particular. Since a potential role of a new hemostatic factor named protein Z (PZ) has been reported in hypercoagulability, we evaluated plasma PZ and PC levels in thalassemia and their possible relation to the hypercoagulable state. Sixty subjects with thalassemia major and 10 with thalassemia intermedia (TI) followed at our Department were enrolled in the study. An age-matched control group of healthy subjects was considered. PZ, thrombin-antithrombin complexes, PC concentration (PC:Ag) and activity (PC:Act) were measured. PZ, PC:Ag and PC:Act were significantly lower in thalassemia major and thalassemia intermedia subjects than in 30 healthy controls (p < 0.001), while thrombin-antithrombin complex levels were significantly increased (p < 0.001) and related to PC levels but not to PZ levels (p < 0.05). PZ and PC levels are reduced in thalassemia but only PC has an effect on the thalassemia hypercoagulable state. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: The present study was undertaken to evaluate the possible occurrence of immunological abnormalities in thalassaemia major patients treated with deferiprone (L1). Methods: Longitudinal observational cohort study. Results: The absolute number of CD8+ lymphocytes was high and the CD4/CD8 ratio low before L1 treatment; these parameters returned to normal after 3 months of L1 treatment. TNF-α, IL-2 and IL-2sRα were elevated before L1 treatment (11.83 ± 1.75, 11.75 ± 3.91, 1,409 ± 621 pg/ml, respectively), while IL-6 was normal (2.58 ± 0.79 pg/ml). After 12 months of treatment, IL-10 was higher than in previous periods, although always within the normal range. TNF-α, IL-2 and IL-2sRα returned to normal after 12, 6, and 3 months of L1 treatment, respectively.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Elevated plasma concentrations of endogenous thrombin generation markers and thrombotic events have been reported in children with leukemia. The aim of this study was to evaluate the effects of cancer and its treatment on thrombin generation (TAT levels) in children with acute lymphoblastic leukemia (ALL). The authors evaluated 32 children (23 M, 9 F) aged between 1 and 15 years (mean 6) affected by ALL (immunophenotypic subgroups: 16 common, 7 T, and 9 pre-B type). In all patients TAT levels at onset and after 5-6 doses of L-asparaginase were evaluated. TAT levels were higher in patients both at onset (13.04 ± 10.90 ng/L) and after the 5-6 doses of L-asp (19.41 ± 11.05 ng/L) with respect to controls (4 ± 1 ng/L) (p < .001 and p < .001). TAT levels after 5-6 doses of L-asp were higher than those at onset (p < .001). Factorial ANOVA showed that at onset there was a significant effect of leukemia immunophenotypic subgroups upon TAT levels (p < .05) and no effect of inherited thrombotic risk factors. These results indicate that in children with ALL an important role is played by acquired thrombotic risk factors, among which the indirect cancer procoagulant activity has its importance. [ABSTRACT FROM AUTHOR]

Congenital third-degree (complete) atrioventricular block requires pacemaker implanta-tion where prenatal hydrops, low ventricular rate (<45 bpm) non-response to inotropes, and/or left ventricular dysfunction is present. A permanent pacemaker was implanted in a 1200g 9 day old preterm: the smallest newborn successfully subjected to this procedure, according to literature. [ABSTRACT FROM AUTHOR]

Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or modification of the neuromuscular junction. Among these, the collagenic tail of endplate acetylcholinesterase protein (COLQ; MIM 603033) has a crucial role in anchoring the enzyme into the synaptic basal lamina. Here, we report on the first case of a patient with a homozygous deletion affecting the last exons of the COLQ gene in a CMS patient born to consanguineous parents of Pakistani origin. Electromyography (EMG), electroencephalography (EEG), clinical exome sequencing (CES), and single nucleotide polymorphism (SNP) array analyses were performed. The subject was born at term after an uneventful pregnancy and developed significant hypotonia and dystonia, clinical pseudoseizures, and recurring respiratory insufficiency with a need for mechanical ventilation. CES analysis of the patient revealed a homozygous deletion of the COLQ gene located on the 3p25.1 chromosome region. The SNP-array confirmed the presence of deletion that extended from exon 11 to the last exon 17 with a size of 19.5 Kb. Our results add new insights about the underlying pathogenetic mechanisms expanding the spectrum of causative COLQ mutations. It is relevant, considering the therapeutic implications, to apply suitable molecular approaches so that no type of mutation is missed: "each lost mutation means a baby treated improperly". [ABSTRACT FROM AUTHOR]

Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs physiologically between five and seven years of age. AR timing has a great impact on patients' health, since early adiposity rebound (EAR) is associated with the development of metabolic syndrome later in life. We aimed to investigate the prevalence of EAR in a cohort of inborn preterm infants admitted to the Neonatal Intensive Care Section of the Policlinico University Hospital of Bari, Italy. Secondarily, we assessed whether some determinants such as (1) gender; (2) delivery mode; (3) birth weight and classification into small, normal, or large for gestational age; (4) type of feeding; (5) breastfeeding duration; (6) timing of introduction of solid food; (7) parental education; and (8) parental pre-pregnancy body mass index (BMI) influenced EAR in this cohort. The tertiary aim was to evaluate the prevalence of obesity or being overweight at seven years of age in children according to early versus timely AR. This is a prospective, population-based longitudinal study conducted at the Neonatal Intensive Care Section of the Policlinico University Hospital of Bari, Italy. Inborn preterm infants admitted to the neonatal ward between 2009 and 2011 were eligible. Enrolled preterm infants were evaluated at birth and at 1, 3, 6, 9, 12, 15, 18, and 24 months and 3, 4, 5, 6, and 7 years of age. Weight and height data were analyzed, and BMI was calculated. AR was assessed in the growth trajectory in a body mass index (BMI) plot. Of the 250 preterm newborns included, 100 completed the seven-year follow-up and entered the final analysis, 138 were lost during the seven-year follow-up, and in 12 cases parents withdrew over the course of the study. The prevalence of EAR in our cohort of preterm newborns was 54% at seven years of age. Early adiposity rebound was associated with being large for gestational age (LGA) at birth. No other factors were associated with EAR. Early adiposity rebounders had a significantly higher BMI at seven years compared to children with timely AR (17.2 ± 2.7 vs. 15.6 ± 2.05, p = 0.021). No significant differences were found in the prevalence of obesity or being overweight at seven years of age in children with early or timely AR (29% vs. 14%, p = 0.202). Ex-preterm infants have an increased risk of EAR. Since EAR may lead to long-term detrimental health effects with the onset of various chronic diseases (e.g., obesity, metabolic syndrome, etc.), healthcare providers should be prepared to counteract its occurrence, especially in delicate sub-populations of infants. [ABSTRACT FROM AUTHOR]

(1) Background: Circulating micro-RNAs (miRNAs) modulate the expression of molecules in diabetes. We evaluated the expression of serum miRNA-195-5p and -451a in diabetic patients with ischemic stroke and correlated them with two markers of brain tissue integrity. (2) Methods: Seventy-eight subjects with acute ischemic stroke (AIS) or transient ischemic attack (TIA) (40 with diabetes) were enrolled. Serum miRNA levels, brain-derived neurotrophic factor (BDNF) and vascular endothelial growth factor A (VEGF-A) were assessed at admission and 24 and 72 h after a post-ischemic stroke, and were compared to 20 controls. (3) Results: Both circulating miRNAs were two-fold up-regulated in diabetic AIS and TIA patients compared to non-diabetics. Their levels progressively decreased at 24 and 72 h in both AIS and TIA patients. Interestingly, in the non-diabetic TIA group, both circulating miRNAs, although higher than the controls, tended to achieve a complete decay after 72 h. Furthermore, miRNA-195-5p and miRNA-451a levels inversely correlated with both BDNF and VEGF-A serum levels. (4) Conclusions: These data show a different profile of both micro-RNAs in diabetic versus non-diabetic patients after acute ischemic stroke, suggesting their pivotal role in cerebrovascular ischemic attack. [ABSTRACT FROM AUTHOR]

Healthy microbiota is a critical mediator in maintaining health and it is supposed that dysbiosis could have a role in the pathogenesis of a number of diseases. Evidence supports the hypothesis that maternal dysbiosis could act as a trigger for preterm birth; aberrant colonization of preterm infant gut might have a role in feeding intolerance and pathogenesis of necrotizing enterocolitis. Despite several clinical trials and meta-analyses, it is still not clear if modulation of maternal and neonatal microbiota with probiotic supplementation decreases the risk of preterm birth and its complications. [ABSTRACT FROM AUTHOR]