The effect of ethanol evaporation on the properties of inkjet produced liposomes.

Background: Inkjet method has been used to produce nano-sized liposomes with a uniform size distribution. However, following the production of liposomes by inkjet method, the solvent residue in the product could have a significant effect on the properties of the final liposomes.

Objective: This research paper aimed to find a suitable method to remove ethanol content and to study its effect on the properties of the final liposomal suspension.

Behavioral profile in RASopathies.

Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade.

Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.

Global spatial and motion processing abilities were assessed in 18 patients with Noonan syndrome (NS) and in 43 matched controls using form and motion coherence testing, respectively. We observed a discrepancy between the two groups since the study group had significantly lower performances than the control group for form coherence while there was no impairment on motion coherence. All the patients were also assessed on the Movement Assessment Battery for Children (M-ABC) to evaluate visuomotor skills.

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

In the present study we evaluated long term memory in twenty individuals with molecularly confirmed diagnosis of Noonan syndrome and LEOPARD syndrome, two disorders caused by mutations in genes coding transducers participating in the RAS-MAPK signaling cascade. The profile of explicit long term memory abilities was investigated using PROMEA, which includes a battery of tests specifically developed to assess memory and learning in verbal, visual and spatial domains. Ten individuals (50%) had impaired (≤5th percentile) or below average (≤15th percentile) performance on a delayed verbal free recall memory task, four (20%) on a delayed visual recognition memory task, and only one (5%) on a delayed spatial recognition memory task.

Early visual assessment in preterm infants with and without brain lesions: correlation with visual and neurodevelopmental outcome at 12 months.

Background: Several studies have reported the development of various aspects of visual function in infancy and early childhood in both preterm and term-born infants, but only a few studies have focused on the predictive power of neonatal visual findings in infants with brain lesions.

Aims: To explore visual findings at term age, and at 3 and 12 months corrected age in preterm infants (gestational age <33 weeks) with and without brain lesions; to compare the assessment at term age and at 12 months; and to assess the relationship between visual findings and neurodevelopmental outcome at 12 months.

Study Design: Cranial ultrasound scans (US) were classified in normal, mild or major abnormalities.

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).

We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia.

Visual and visuoperceptual function in children with Panayiotopoulos syndrome.

Purpose: The aim of this study was to assess behavioral aspects of visual function and visuoperceptual abilities in patients with Panayiotopoulos syndrome (PS), and their possible associations with clinical and electroencephalography (EEG) findings in order to establish the possible effect of interictal paroxysmal activity on visual performance.

Methods: The cohort included 28 patients (14 male and 14 female) of ages ranging between 4 and 15 years. All patients underwent serial videopolygraphic studies and a detailed battery of tests assessing visual abilities, including assessment of acuity, stereopsis, visual fields, and visuoperceptual abilities; tests included the Movement Assessment Battery for Children, the Visuo Motor Integration tests, and evaluation of motion and form coherence threshold.

Cortical visual function in preterm infants in the first year.

Objective: To assess visual function in low-risk preterm infants at 3, 5, and 12 months corrected age to determine whether the maturation of visual function in the first year is similar to that reported in term-born infants.

Study Design: Seventy-five low-risk infants (25.0-30.

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

Mutations in genes coding for transducers participating in the RAS/MAPK pathway have been identified as the molecular cause underlying a group of clinically related developmental disorders with cognitive deficits of variable severity. To determine the spectrum of cognitive defects associated with dysregulation of this signal cascade, we studied the profile of cognitive abilities in patients with mutations affecting the PTPN11, SOS1, HRAS, KRAS, BRAF, RAF1, and MEK1 genes and phenotype-genotype correlations. Our findings support the observation that heterogeneity in cognitive abilities can be at least partially ascribed to the individual affected genes and type of mutation involved.

Visual function at 35 and 40 weeks' postmenstrual age in low-risk preterm infants.

Objectives: The objectives of this study were to (1) assess visual function in low-risk preterm infants at 35 and 40 weeks' postmenstrual age, (2) compare preterm visual abilities at term-equivalent age with term-born infants, and (3) evaluate effects of preterm extrauterine life on early visual function.

Methods: Visual function was assessed by using a validated test battery at 35 and 40 weeks' postmenstrual age in 109 low-risk preterm infants who were born at <31 weeks' gestation. The preterm findings were compared with data from term-born infants collected by using the same test protocol.

Neurological examination of preterm infants at term equivalent age.

Background: We previously reported the neurological findings of the Dubowitz neonatal examination in a cohort of 157 low-risk preterms born between 25 and 33 weeks gestational age (GA) and examined at term equivalent age (TEA). Median and range of scores were wider than those found in term-born infants and preterms showed a different neurological behaviour in specific items. However, the cohort number was too small to draw any definitive conclusion about the distribution of findings.

The development of vision.

Disorders of visual function are common findings in children with neonatal brain lesions of antenatal and perinatal onset. In the last few years the development of age appropriate batteries for assessing visual function in the first years and the combined use of neuroimaging and neurophysiological techniques have allowed to achieve better understanding of the mechanisms underlying development of vision in low risk infants and in those with brain lesions. We will review the main models of visual development and the tests available to assess visual function in infancy, focusing on the recently described battery of tests for assessing early visual abilities in preterm and full term infants.

Application of a neonatal assessment of visual function in a population of low risk full-term newborn.

Background: We have previously developed and described a battery of 9 items suitable for assessing different clinical aspects of visual function in newborn infants.

Aim Of The Study: Application of the test battery to a cohort of low risk term-born infants at 48 and 72 h after birth 1) to define the normative distribution of results for each item and 2) to document any effect of postnatal age.

Study Design And Subjects: 124 term-born low risk infants were assessed at 48 h; fifty of them were re-assessed 24 h later at 72 h.

Early assessment of visual function in full term newborns.

Background: The assessment of visual function is part of all the neonatal neurological examination but it is often limited to the evaluation of ocular movements and the ability to fix and follow a target.

Aim Of The Study: To develop a simple battery of test items assessing different aspects of visual function that could be used as early as 48 h after birth.

Study Design And Subjects: : The final battery, which has been used in 50 full term low risk neonates, includes 9 items assessing ocular motility, both spontaneous and with focus on a visual target, fixation and tracking (horizontal, vertical and in an arc), the ability to discriminate stripes of different spatial frequency, and attention at distance.

Visual development in infants with prenatal post-haemorrhagic ventricular dilatation.

Objective: The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation.

Design: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy.

Thalamic atrophy in infants with PVL and cerebral visual impairment.

The aim of this retrospective study was to establish the presence and severity of cerebral visual impairment in preterm infants with PVL. We also wished to establish whether abnormalities of visual function are related to brain MRI findings and more specifically not only to the involvement of optic radiations and occipital cortex but also to changes in the thalami, that are often affected in infants with PVL. Twelve infants with cystic PVL were assessed at 1 year (+2) corrected age with a battery of tests specifically designed to assess various aspects of visual function in infancy, such as ocular movements, visual acuity, visual fields and fixation shift.

Epilepsy in shunted posthemorrhagic infantile hydrocephalus owing to pre- or perinatal intra- or periventricular hemorrhage.

Epilepsy is relatively common in infants with hydrocephalus. Its mechanism is controversial; in fact, studies on etiologically heterogeneous series are not able to clarify the mechanism generating epilepsy or to suggest effective prevention and treatment strategies. Our study is aimed at assessing the onset and evolution of epilepsy, as well as concurrent cognitive development of a homogeneous series of shunted posthemorrhagic hydrocephalus owing to pre- or perinatal intra- or periventricular hemorrhage.