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Objective: To examine cerebral oxygenation and perfusion in small for gestational age (SGA) compared with appropriate for gestational age (AGA) neonates during the first postnatal week, and to investigate any association with neurodevelopmental outcomes at 24–36 months of age. Methods: A prospective matched case-control study was conducted evaluating cerebral oxygenation and perfusion, using near-infrared spectroscopy (NIRS), between SGA and AGA neonates, during the first postnatal week. A neurodevelopmental assessment with Bayley-III was performed at 24–36 months of age. Results: Forty-eight SGA and 48 AGA neonates of similar gestation (32.8 ± 2.1 vs. 32.5 ± 1.9) were enrolled. On the first postnatal day, the cerebral oxygenation was equal between SGA and AGA neonates (71 ± 7% vs. 72 ± 8%); however, in the subgroup analysis, males had higher oxygenation compared to female SGA neonates (73 ± 7% vs. 69 ± 7%, P = 0.04). Cerebral perfusion was significantly higher in SGA neonates on the first postnatal day (1.4 ± 0.6 vs. 1.1 ± 0.5, P = 0.04), but this difference was diminished on subsequent measurements. There were no significant differences between the SGA and AGA infants regarding the composite cognitive, communication and motor index scores. The length of mechanical ventilation and late-onset sepsis were significant risk factors affecting the cognitive and communication composite index scores, respectively. Conclusion: Cerebral oxygenation was equal between SGA and AGA neonates, while cerebral perfusion was transiently increased in SGA neonates during the first postnatal day. There was no significant association of cerebral oxygenation and perfusion with neurodevelopmental outcomes. [ABSTRACT FROM AUTHOR]

Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Introduction: Life-threatening haemorrhage in neonates is related to high mortality rates. Use of Prothrombin complex concentrate (PCC) in such cases could be significantly valuable because of the low levels of vitamin K-dependent coagulation proteins in neonates and their consumption in case of DIC status. Administration of PCC results in a faster and more effective discontinuation of bleeding, providing time to stabilize the neonate without the risks of fluid overloading and bloodstream infections. Objective:Proposal of an alternative therapeutic approach to intractable bleeding in neonates resistant to conventional haemostatic therapy and compared the clinical outcome of newborns treated with PCC for intractable bleeding or severe coagulation disturbances according to time administrated. Subjects/methods:Data of 39 neonates treated successfully with PCC were retrospectively analyzed. Each patient received a median of 2.1 doses of 25/U of PCC in slow iv push with 12 hrs time-interval. Blood samples for evaluation of coagulation parameters (PT,aPTT,INR) were obtained 1/hr following infusion of each PCC dose. Results:The population consisted of 39 neonates, 14 of them survived (group/A) and 25 died (group/B). There was no difference in BW, GA and bleeding cause or/and site between the 2 groups. In the neonates who survived PCC had been administered earlier in the disease process (within 24 hours of beginning of bleeding) compared to those who died (p=0.048). We observed a statistically significant decrease in PT (from 39.5±41 to 18.7±4.41 prior and after to PCC respectively, p=0.001) and in INR (from 3.67±4.01 to 1.61±0.52 prior and after to PCC respectively, p=0.002). There were no clinical signs of thrombosis or any other adverse effect due to PCC treatment. Conclusion: PCC was safe and efficacious in neonates with intractable bleeding and/or severe coagulation disturbances and PCC was more effective in early intervention as rescue therapy, without any adverse events in all neonates [ABSTRACT FROM AUTHOR]

Introduction: Drug-induced immune thrombocytopenia is considered extremely rare, as a cause of neonatal thrombocytopenia (PLT 0.000/μL). Diagnosis of drug-induced immune thrombocytopenia is considered as definite when all four George criteria are met: 1. Drug administration preceded thrombocytopenia. Recovery was complete and sustained after drug discontinuation 2. Other drugs administered prior to thrombocytopenia were continued or reintroduced after discontinuation of the suspected drug 3. Other etiologies of thrombocytopenia excluded 4. Re-exposure to the drug resulted in recurrent thrombocytopenia Objectives: We describe an interesting case of early onset, severe ampicilline-induced immune thrombocytopenia, in newborn twins. Material - Method: Monochorionic- diamniotic female twin neonates (A) and (B) (GA: 36 weeks) Results: Twins were born after an uncomplicated pregnancy via cesarean section (due to previous one). Perinatal history was unremarkable. Administration of empirical treatment with ampicillin and amikasin intravenously. On 2nd day of life (DOL), they exhibited severe thrombocytopenia (table 1), without hemorrhagic diathesis. Coagulation tests of (A) twin were prolonged (day 3). Laboratory screening for infection (CRP, blood culture), TORCH, perinatal asphyxia, necrotizing enterocolitis, neonatal alloimmune thrombocytopenia and disseminated intravascular coagulation, was negative. Drug-induced immune thrombocytopenia is an allergic reaction type II and in our case was related to ampicillin. Antibiotics were discontinued at 2nd DOL. Platelet transfusions were administered in both twins and fresh frozen plasma in (A) twin. On 5th DOL, platelet count was normal as well as coagulation tests of (A) twin, and no recurrence of thrombocytopenia was observed. Conclusions: Drug-induced neonatal immune thrombocytopenia is acute and severe. Clinical suspicion is important for diagnosis, which is probable in our case. [ABSTRACT FROM AUTHOR]