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Green coconut water has unique nutritional and sensorial qualities. Despite the different technologies already studied, its enzymatic stability is still challenging. This study evaluated the use of ultrasound technology (US) for inactivating/sensitizing coconut water peroxidase (POD). The effect of both US application alone and as a pre-treatment to thermal processing was evaluated. The enzyme activity during US processing was reduced 27% after 30min (286W/L, 20kHz), demonstrating its high resistance. The thermal inactivation was described by the Weibull model under non-isothermal conditions. The enzyme became sensitized to heat after US pre-treatment. Further, the use of US resulted in more uniform heat resistance. The results suggest that US is a good technology for sensitizing enzymes before thermal processing (even for an enzyme with high thermal resistance). Therefore, the use of this technology could decrease the undesirable effects of long times and/or the high temperatures of the conventional thermal processing., (Copyright © 2016 Elsevier B.V. All rights reserved.)

The present work aimed to describe the mechanisms involved in the enhancement of the drying and rehydration process of carrot slices caused by the pre-treatment using the ultrasound technology. For that, carrot slices of 4mm of thickness were pre-treated for 30 and 60min using an ultrasonic bath (41W/L; 25kHz). The convective drying process was performed at 40 and 60°C with 2.0m/s of air velocity, while the rehydration process was performed at 25°C. The Henderson & Pabis model was used to describe the drying kinetics and the Peleg model to describe the rehydration process of the carrots slices. As a result, the drying and rehydration kinetics were described, at the different conditions of process, correlating the results with the main effects that the ultrasound cause as a pre-treatment (cell bloating and micro-channels) and the air-drying temperature. Depending on the length of the pre-treatment, the effects caused by the ultrasound in the following processes were different. In addition, it was corroborated that when the drying temperature is increased, less evidenced is the ultrasound effect. The ultrasound, when is applied for long times, enhanced the drying and further rehydration rate at low temperatures, due to the tissue damage. Moreover, vacuum-packed samples were pre-treated with ultrasound in order to exclude the water gain and to evaluate only the micro-channels formation effect. It was concluded that the ultrasound pre-treatment enhances the drying and rehydration processes; however, future optimization studies are recommended., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Background: Epilepsy is a common disease in the world. Around 10-40% of patients who suffer epilepsy will have intractable seizures. When resective epilepsy surgery is not possible, vagus nerve stimulation (VNS) can be an option. The most common side effects associated with VSN therapy are hoarseness, throat pain and coughing. Cardiac arrhythmia has been reported during lead tests performed during implantation of the device, but few cases during regular treatment. We report a new child where vagally induced bradyarrhythmia, perfectly correlated with the stimulation periods., Clinical Report: 13-year-old girl with refractory myoclonic-astatic epilepsy since the age of two. When she was five years old, a VNS was implanted with complete resolution of her seizures. But when she was 13, she began with sudden falls with loss of consciousness lasting less than 10 s, which were similar to her previous epileptic drop-attacks. Continuous ECG recording was normal but electrocardiography showed a bradycardia of 45 bpm with a syncope-like episode. It was necessary to turn off the VNS., Conclusions: To our knowledge, there are just three pediatrics and four adults patients described in the literature with this severe and life-threatening side effect. Cardiac complications of VNS therapy are very infrequent but should alert clinicians to its possibility. A cardiac evaluation is mandatory before VNS implantation and periodically thereafter (probably between one or three years)., (Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Introduction: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited., Material and Methods: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013 were recorded., Results: All the 239 patients had a clinical and/or genetic diagnosis of NF1. The mean age at diagnosis was 2.65±2.85 years. In our series 99.6% met the diagnostic criteria of café au lait spots, 93.7% those of axillary and inguinal freckling, 7.1% showed typical bone lesion, 38.1% neurofibromas, 23% plexiform neurofibromas, 31.4% optic pathway glioma, Lisch nodules were present in 43.1%, and 28% patients had a first degree relative affected with NF1. The NF1 genetic study was performed in 86 patients, and a description of the gene mutations found in 72 of them is presented. Furthermore, other clinical data previously associated with NF1, either because of their frequency or their severity, are detailed., Conclusions: The difficulty for clinical diagnosis of NF1 early ages is still evident. Although, the need for further studies in asymptomatic patients is discussed, cranial MRI in children with NF1 may be helpful in the clinical diagnosis, given the high frequency of optic glioma observed in this cohort., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Tuberous sclerosis complex (TSC) is frequently accompanied by difficult-to-treat epilepsy, which conditions these patients' quality of life and cognitive level. AIM. To describe the epidemiological and clinical characteristics, as well as the treatment of patients affected by TSC with epilepsy., Patients and Methods: A retrospective review was carried out of the medical records of 30 patients aged under 18 registered in our database, who had been diagnosed with TSC and epilepsy., Results: The age at onset of epilepsy in the patients with TSC in our series ranged from one month to four years. All of them began with partial crises. Two presented West's syndrome and four others had infantile spasms without hypsarrhythmia. In 19 of the patients, the epilepsy was medication resistant. As regards treatment with antiepileptic drugs, 11 are in monotherapy, 10 in bitherapy, seven in tritherapy and one with four drugs. Two were given ACTH, two carry an implanted vagal nerve stimulator, four receive treatment with everolimus and eight have undergone surgery., Conclusions: Epilepsy is a very common problem and begins in the early years of life in TSC. There are currently a large number of therapeutic options available, although 63.3% of patients have non-controlled epilepsy and most of them present crises on a daily basis. Poor control of their crises is correlated with mental retardation and autism spectrum disorder. The positive response obtained with other therapeutic possibilities, such as mTOR pathway inhibitors, surgery and vagal nerve stimulator, should be noted.

Introduction: To be able to treat prolonged epileptic crises practical, safe and effective rescue medication is needed. Today, the standard treatment in community healthcare is rectal diazepam. The introduction of a buccal solution of midazolam opens up a new perspective in their treatment., Aims: To evaluate the cost-effectiveness of buccal midazolam with respect to rectal diazepam for children diagnosed with epilepsy who present prolonged convulsive seizures in the community setting in Spain., Materials and Methods: The study produces a model of its cost-effectiveness from the perspective of the Spanish National Health System (SNS), with the outcomes presented in terms of cost-quality adjusted life years. Data were collected from different sources, including estimations regarding the clinical effectiveness from a clinical trial, from a Delphi panel in Spain and from a national survey carried out on parents of children with epilepsy in order to determine the current practices., Results: Treatment with buccal midazolam produces a saving in costs in comparison to rectal diazepam. The amount saved by the Spanish SNS comes to 5,484 euros per patient per year. Treatment with buccal midazolam offers an improved health-related quality of life. This, together with the savings in costs, means that there is a dominance of buccal midazolam over rectal diazepam in all the settings that have been examined., Conclusions: The results obtained with the model show that buccal midazolam is more cost-effective than rectal diazepam due to a reduction in the need to call out ambulances and for stays in hospital, as well as an improved health-related quality of life.

Introduction: Zinc deficiency is common in children among populations in developing areas. Zinc deficiency alters the immune system and the resistance to infections., Objective: To evaluate the effect of two zinc compounds in the prevention of acute respiratory infection and acute diarrhea., Materials and Methods: Randomized triple-blind community trial with 301 children between 2-5 years of age from six child daycare centers in Medellin, Colombia. Children were distributed in three groups receiving zinc amino acid chelate, zinc sulfate and placebo five days a week for 16 weeks. Daily symptoms of respiratory infection, acute diarrhea and side effects were evaluated., Results: The incidence of respiratory infection was lower with zinc amino acid chelate (1.42 per 1,000 child-days) compared with placebo (3.3 per 1,000 child-days) (RR=0.43, 95% CI: 0.196 to 0.950, p=0.049) and with zinc sulfate (1.57 per 1,000 child-days) (RR=0.90, 95% CI 0.382 to 2.153, p=0.999). The incidence of acute diarrhea with zinc amino acid chelate (0.15 per 1,000 child-days) was lower than with placebo (0.49 per 1,000 child-days) (RR=0.32, 95% CI 0.006 to 3.990, p=0.346) and with zinc sulfate (0.78 per 1,000 child-days) (RR=0.20, 95% CI: 0.0043 to 1.662, p=0.361)., Conclusions: Zinc amino acid chelate had a better effect in reducing the incidence of acute respiratory infection and acute diarrhea in preschool children when compared with the other groups.

Introduction: Iron depleted deposits are the first link in the chain of events leading to iron deficiency which is the most prevalent nutritional shortage and main cause of anemia worldwide. This situation can be prevented through food fortification., Objective: To compare the efficacy of amino acid chelate iron with ferrous sulfate as fortifier of a dietary complement in preschoolers with iron deficiency., Materials and Methods: This study was a blinded clinical trial with randomized groups. We analyzed 56 preschoolers with iron deficiency (ferritin < 24 ng/ml) that received 13 g of milk with 12.5 mg of iron, either amino acid chelate or in the ferrous sulfate form. After two months, hemoglobin, hematocrit and serum ferritin concentrations were measured., Results: In the ferrous sulfate group, ferritin concentration increased from 18.8 ng/ml to 24.1 ng/ml, while the variation was of 18.4 ng/ml to 29.7 ng/ml in the amino acid chelate group, with statistically differences in both cases. Serum ferritin was different between groups, being higher in iron amino acid chelate group (p=0.022). Hemoglobin and hematocrit levels did not change after the intervention. Adverse reactions in the ferrous sulfate group were 35.7%, compared with 42.9% in the iron amino acid chelate group; 5 children had respiratory tract infection, without statistical differences., Conclusions: Both compounds increased serum ferritin concentration, with a higher increase in those who were given milk with iron amino acid chelate. There were no differences in the adverse reactions and infections incidences between the groups.

Purpose: To evaluate ocular function and systemic development in premature infants treated with intravitreal bevacizumab injections for retinopathy of prematurity over a period of 5 years., Methods: A prospective, interventional, noncomparative case study. The primary outcome measure was visual acuity. The secondary outcomes were structural assessment, other ocular functional measurements, and developmental state., Results: Eighteen eyes of 13 consecutive patients were divided into 3 groups: Group 1, Stage 4 unresponsive to previous conventional treatment (n = 4); Group 2, in which conventional treatment was difficult or impossible because of inadequate visualization of the retina (n = 5); and Group 3, newly diagnosed high-risk prethreshold or threshold retinopathy of prematurity (n = 9). All patients showed initial regression of neovascularization. One patient was diagnosed with recurrence of neovascularization and was treated with intravitreal bevacizumab. Visual acuity was preserved, and median vision was 20/25 (excluding 2 operated eyes). Twelve eyes developed mainly low myopia over the years, with an overall mean value of 3.2 diopters. Electroretinograph was normal in 4 eyes that had no previous detachment. One patient showed delay in growth and neurodevelopment, whereas all the others were within the normal range., Conclusion: Five years of follow-up in a small series suggest that intravitreal bevacizumab for retinopathy of prematurity results in apparently preserved ocular function and systemic development.

ΔEGFR is a potent glioblastoma oncogene which has been studied primarily as a plasma membrane kinase. Using intracranial xenograft studies in mice, we show that blocking ΔEGFR access to the nucleus attenuates its tumorigenicity and, conversely, that promoting nuclear accumulation enhances this, providing the first in vivo evidence that the nuclear actions of ΔEGFR contribute strongly to its oncogenic function. Nuclear actions of ΔEGFR include regulation of gene expression by participation in chromatin-bound complexes, and genome-wide mapping of these sequences by chromatin immunoprecipitation and massively parallel sequencing identified 2294 peaks. Bioinformatic analysis showed enrichment of the E-box motif in the dataset, and c-Myc and ΔEGFR were corecruited to the promoters of and transcriptionally activated a subset of nuclear ΔEGFR chromatin targets. Knockdown of c-Myc decreased the expression of these targets and diminished ΔEGFR-stimulated anchorage-independent colony formation. We conclude that transcriptional regulation of target genes by association with gene regulatory chromatin in cooperation with c-Myc by nuclear ΔEGFR makes a unique contribution to its oncogenicity and propose that this venue provides new targets for therapeutic intervention.

A revalorization of discarded carrots as substrate for the production of second-generation ethanol is proposed. In order to increase the fermentable sugar concentration of the musts two strategies were studied: Strategy 1 consisted in the enzymatic hydrolysis of bagasse must and Strategy 2 by which carrots were milled, dropped into distilled water and hydrolyzed with different enzymes prior to compressing and filtering to obtain carrot must. By applying Strategy 2 using 0.05% (v/v) of the enzyme Optimase CX255 at 70°C and pH 5.5 during 2.5h, the fermentable sugars extracted increased 3.5 times. In this way, the production of 77.5L of ethanol for each ton of discarded carrots was achieved. This process yielded bagasse as byproduct, which could be used for animal feed., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Hopkins syndrome occurs after an acute asthma attack. An immune-mediated mechanism has been suggested. Immunoglobulin or methylprednisone pulse therapies comprise the most useful treatment. We describe a 3-year-old girl who developed severe weakness in her left arm, 7 days after an acute asthma attack. A complete blood count with autoimmune biomarkers, immunoglobulin profile, and virology study and magnetic resonance of the brain, spine, and brachial plexus produced normal results. In the cerebrospinal fluid, T lymphocytes comprised the predominant leukocyte population, and oligoclonal bands were positive. An electromyogram revealed a partial axonal lesion (normal motor nerve conduction velocity with low amplitude) of the axillary, musculocutaneus, and interosseous nerves of the left arm, with normal sensory nerve conduction and partial denervation. We began therapy with intravenous immunoglobulin for 5 consecutive days, repeated every 4 weeks for 2 months. Afterward, our patient recovered. This report contributes to understanding the role of immune-mediated mechanisms in the pathogenesis of this disease, and the importance of immunotherapy in its treatment., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Objective: To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes, Patients and Methods: We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging over the last 20 years., Results: The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the 10 total patients, 8 had epileptic seizures during its progress. All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy. Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different antiepileptic drugs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control. Only in 3 of 8 patients has been achieved Acceptable control of epilepsy had only been achieved in 3 out the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years., Conclusions: Epilepsy is the most frequent manifestation of hypothalamic hamartomas. Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions. Psychiatric comorbidity and cognitive impairment is common., (Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Introduction: Up to 70% of children currently treated by Palliative Care Units in Europe are neurological patients. Our objective is to assess the knowledge, interest and involvement in Paediatric Palliative Care (PPC) among Spanish paediatric neurologists., Material and Methods: We contacted 297 Neuropaediatricians by and attached a 10-question multiple choice test. This questionnaire was related to the level of knowledge of PPC, identification of patients requiring this specific care, involvement of a paediatric neurologist, use of local palliative resources, and formal training in this subject., Results: Participation rate was 32% (96/297). Around 90% knew the definition of PPC, could identify patients with a short-term survival prognosis, and had treated children who eventually died due to their illnesses. A "non resuscitation order" had been written by 61% of them at least once; 77% considered the patient́s home as the preferred location of death (if receiving appropriate care), 9% preferred the hospital, and 14% had no preference for any of these options. Just over half (52%) had contacted local PC resources, and 61% had referred or would refer patients to be seen periodically by both services (PC and Paediatric Neurology). More than half (55%) consider themselves not trained enough to deal with these children, and 80% would like to increase their knowledge about PPC., Conclusion: The paediatric neurologists surveyed frequently deal with children who suffer from incurable diseases. Their level of involvement with these patients is high. However, there is an overwhelming necessity and desire to receive more training to support these children and their families., (Copyright © 2011 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.)

Tuberous sclerosis complex is an autosomal dominant disease, with variable expressivity and multisystemic involvement, which is characterised by the growth of benign tumours called hamartomas. The organs that are most commonly affected are the brain, skin, kidneys, eyes, heart and lungs. Of all the children with this disease, 85% present neurological manifestations that, due to their severity, are the main cause of morbidity and mortality. The most significant neurological manifestations are epilepsy, autism spectrum disorders and mental retardation. It has been shown that in tuberous sclerosis complex the genes TSC1 and TSC2 alter the mTOR enzyme cascade, which sets off inhibition of this pathway. The possibility of resorting to treatments applied at the origin, thus inhibiting this pathway, is currently being evaluated.

Introduction: The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in polymicrogyria in 34 patients with this disorder., Subjects and Methods: We have compiled 34 patients diagnosed and/or in follow-up at the Department of Paediatric Neurology of the Hospital Infantil Niño Jesús between 1995 and 2010. All the patients had a magnetic resonance imaging suggestive of polymicrogyria, and most of the patients still have periodic checks, thus their outcome is known., Results: The large majority were male (76.5%). The median age at presentation was 10 months; the reason for the study was psychomotor or mental delay (44%) followed by seizures (38.2%). During the condition patients presented with epilepsy (61.7%), infantile cerebral palsy (47%), psychomotor/mental retardation (94.1%), pervasive developmental disorder (26.4%), behavioural disturbances (38.2%), neurosensory deficit (35.2%) and microcephaly 67.6%. In 82.3% of patients there was bilateral involvement (42.8% perisylvian). Other abnormalities were observed in the MRI of 58.8% of patients. The electroencephalogram at diagnosis showed changes in 41.1%, and this rose to 67.6% during follow-up. 61.7% received antiepileptic treatment was received by 61.7% of patients, with 52.3% requiring ≥2 drugs. Epilepsy surgery was performed on two patients. Some type of sequelae was observed in 91.1% of patients. The aetiology was unknown in 61.7%; a congenital infection was suspected in 10 patients and syndromic or polymalformative disorder in three patients., Conclusions: This study shows the range of clinical and radiological expression in polymicrogyria, in addition to the possibilities for the future in terms of determining the aetiology of this pathology., (Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Background: The International Clinical Diabetic Macular Edema Disease Severity Scale grades retinal thickening according to its distance from the macular center, but its definitions have not been standardized quantitatively. We undertook this study to identify the severity distribution of diabetic macular edema at the time of diagnosis. We used optical coherence tomography (OCT) in a standardized manner and identified the proportion of eyes that required immediate treatment., Methods: We carried out an observational, prospective, cross-sectional, descriptive study. Diabetic patients with a diagnosis of clinically significant macular edema were evaluated. Severity levels according to the International Clinical Scale were operatively defined, guided by the thickening location in a 6-mm OCT fast macular map, as mild (thickening outside the 3-mm circle), moderate (thickening outside the 1-mm circle), and severe (thickening within the 1-mm circle). The proportion and 95% confidence intervals (CI) were identified for each severity level., Results: We studied 118 eyes (mean ± SD: 59.9 ± 8.3 years). Seventy one eyes had nonproliferative retinopathy (60.1%), 94 eyes (79.7%) had focal macular edema, and 24 eyes (20.3%) showed diffuse edema. Edema severity was mild in 27 eyes (22.9%, 95% CI 15.3-30.5), moderate in 23 (19.5%, 95% CI 12.3-26.6) and severe in 68 (57.6% 95% CI 48.7-66.5)., Conclusions: Standardization of the International Clinical Scale using OCT showed that the most common severity level of macular edema was severe; the minimum expected proportion of eyes with high risk of visual loss secondary to severe edema approached 50%. Opportune detection needs reinforcement because more than half of these eyes require immediate treatment.

Two types of dysgraphia may be distinguished: the core ones, which reflect damage to the linguistic orthographic routes, and the peripheral ones, produced by alterations in the selection or execution of graphic motor patterns. We report the case of an 8-year-old male child, who consulted specialists due to difficulties in writing, with a background of acute cerebellar swelling at the age of 4. The writing pattern he has developed shows characteristic errors of a peripheral dysgraphia. The magnetic resonance imaging taken during the neuropsychological evaluation shows a mild atrophy in the cerebellum cortex. Our case is similar to previous studies of adult patients and equally supports the fact that the functional network responsible for the peripheral control of writing abilities may include the cerebellum, which not only maintains previously learnt writing processes but is also involved in the evolutionary acquisition of this ability.

Purpose: To evaluate the role of antiangiogenic therapy with intravitreal bevacizumab for retinopathy of prematurity (ROP)., Methods: In this noncomparative, prospective, interventional case series, bevacizumab was injected into the vitreous of patients with ROP in three different groups: group I, patients with stage IVa or IVb ROP who had no response to conventional treatment; group II, patients with threshold ROP who were difficult to treat with conventional therapy because of poor visualization of the retina; and group III, patients with high-risk prethreshold or threshold ROP., Results: Thirteen patients (18 eyes; mean age +/- SD, 4 +/- 3 months; mean follow-up, 6 months) were included in the study. We found neovascular regression in 17 eyes. One patient with stage IVa ROP had spontaneous retinal reattachment after an intravitreal injection of bevacizumab. There were no serious ocular or systemic adverse events., Conclusion: The use of bevacizumab may be promising in the treatment of patients with ROP. Further studies need to be performed to determine the safety and long-term efficacy of intravitreal injection of bevacizumab, either as first-line therapy or after failure of conventional therapy.

Introduction: Arteriovenous malformations (AVM) of the brain have a low prevalence but are responsible for a significant component of visual pathology in the young population. Vascular studies using selective angiography are necessary to identify arterial connections and venous drainage, and provide useful information for planning treatment., Clinical Case: A 10-year-old child with a temporo-occipital vascular malformation resulting in a left homonymous hemianopia., Discussion: Arteriovenous malformations of the brain are lesions with a high morbidity and mortality. For the ophthalmologist, they are of special importance due to the possibility of causing a variety of visual defects, depending on their location.

Introduction: Alström-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities., Clinical Case: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed., Discussion: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.

Purpose: To determine short-term effects of intravitreal bevacizumab for subfoveal choroidal neovascularization (CNV) in pathologic myopia., Methods: In this prospective interventional case series, patients were treated with 2.5 mg of intravitreal bevacizumab and followed for 3 months. Best-corrected visual acuity (BCVA), optical coherence tomography (OCT), and fluorescein angiography (FA) were recorded. Indications for retreatment were active leaking CNV shown by FA and presence of subretinal fluid by OCT in combination with visual disturbances., Results: Fourteen patients were included, with a mean age of 53.86 +/- 16.26 years (range 29-85). Mean spherical equivalent was -13.87 +/- 3.68 diopters (-7.25 to -20.50). Minimum follow-up was 3 months. There were no adverse events. The mean initial visual acuity was 20/200 improving to 20/100 at 2 weeks, 20/80 at 4 weeks, and 20/60 at 8 and 12 weeks (P=0.007; P=0.001; P=0.005; P=0.001, respectively). Initial foveal thickness improved from 385.43 microm +/- 125.83 microm to 257.64 +/- 76.6 microm and 194.54 +/- 54.35 microm after the first and third month, respectively (P=0.001)., Conclusions: Initial treatment results of patients with CNV due to pathologic myopia did not reveal any short-term safety concerns. Intravitreal bevacizumab resulted in a significant decrease in foveal thickness and improvement in visual acuity. These favorable initial results support further larger and long-term studies.

Clinical Case: We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes., Discussion: Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.

The production of chimeric mice is a complex process, requiring the careful coordination of tissue culture cell growth, production of a large number (30-75) of competent blastocysts and the availability of appropriately timed pseudo pregnant female mice. Failure at any of these steps can impinge upon the rapid production of chimeras. One potential improvement for the efficient generation of chimeric mice would be the utilization of cryopreserved embryos suitable for injection. C57Bl/6 morulae were frozen using a standard 2-step protocol with ethylene glycol as the cryopreservation agent. We determined that cryopreserved morulae could thaw, culture to blastocyst stage in KSOM media and survive injection at rates equivalent to control embryos. Cryopreserved morulae were also equivalent to controls at all later stages in the process of production of chimeric mice, including birth rate, percentage chimerism of resulting animals and ability to produce germline progeny. Hence, cryopreservation of morulae for blastocyst injection is a suitable option to enhance the efficiency of chimeric mouse generation.

Clinical Case: We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement., Discussion: When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.

Introduction: Gerstmann's syndrome encompasses the tetrad of finger agnosia, agraphia, acalculia and right-left confusion and is associated with lesions of the left angular gyrus, situated at the confluence of the temporal, parietal and occipital lobes. The localizing value of this syndrome has been questioned because multiple mechanisms can account for each of the four components of the syndrome. This clinical association is infrequent in children and it is impossible to diagnose in early stages of life because of parietal lobes have a slow functional development during childhood., Clinical Case: We present the case of a learning disabled boy, 9 year old and right handed, who developed Gerstmann's syndrome. Acalculia, right-left disorientation, agraphia and finger agnosia were clearly identified by neuropsychological studies at this time, but there was no evidence of this dysfunction when he was first studied being 5 year old. This patient had perinatal asphyxia and suffered from focal clonic seizures in early neonatal period. In this case, a infarcted lesion was found at the confluence of parietal and occipital lobes in cranial CT an MRI scans., Conclusion: We conclude that is very important to identify this syndrome during childhood using a wide range of neuropsychological tests in order to diminish learning disorders with an early psychopedagogic supervision.

We report two patients who were less than two years old that were diagnosed as having Angelman syndrome. Cytogenetic confirmation of the disease was performed. We emphasize clinical and electroencephalographic features in infants that allow an early diagnosis of this syndrome and allow for prompt genetic counseling.