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Alpha-methyl acyl-CoA racemase deficiency (AMACRD) is a rare peroxisomal disorder that results in the accumulation of pristanic acid and 16 cases have been reported in the literature. Here, we present three additional patients, two confirmed by genomic study and one suspected. Three siblings who were born to healthy unrelated parents developed recurrent episodes of encephalopathy, seizures, and behavioral disturbances. In all 3, brain MRI showed lesions in the thalami, cerebral peduncles, and mesencephalic tegmentum, as well as brain volume loss. In addition, one patient had a chronic hemispheric infarct and an acute contralateral infarct, and another had a subacute infarct involving multiple vascular territories without abnormalities on MR angiography.

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BACKGROUND: The allergic phenotype is responsible for more than 50% of severe asthma cases. In a stepwise approach, add-on treatments such as anti-IgE are used for severe allergic asthma (SAA). This study was aimed to describe the real-world effectiveness of omalizumab in adult and pediatric patients with SAA in Colombia. METHODS: This was an observational, non-interventional, retrospective study. Data from patients with SAA that received at least one month of treatment with omalizumab was obtained from medical records at eight sites in Colombia. Time-zero (t - 0) was defined as the date of initiation of omalizumab, and data was gathered for a 12-month period before t - 0 and a 12-month period after t - 0. Clinical outcomes, including exacerbations, were assessed at 6 and 12 months. Effectiveness of omalizumab was evaluated in terms of the reduction of the risk of exacerbations (annualized rate). RESULTS: We included 143 patients with SAA. There was a decrease of 72.4% of the annualized rate of clinically significant asthma exacerbations during the year after omalizumab (from 1.74 before to 0.48 after) with a substantial reduction of the risk of exacerbations by 56.7% (RR [95% CI] 0.43 [0.30-0.63] p < 0,001). CONCLUSION: The use of omalizumab in Colombia as a treatment for SAA notably reduced the risk of clinically significant exacerbations. This study is the first to evaluate omalizumab real-life effectiveness in pediatric and adult patients in the country.

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Objective: To report our initial experience using an adult-template MAP in drug-resistant focal epilepsy in five children with apparently normal MRI. Methods: Patients selected were highly suspicious of harboring focal structural lesions and had negative brain MRI studies. MAP was performed using a locally obtained adult database as a template. Results were reviewed by two neuroradiologists. Pertinence of MAP-positive areas was confirmed by the focal epileptic hypothesis or by pathology when possible (J Neuroradiol, 39, 2012, 87). Visual analysis was performed using Mango Software. MRI studies were reanalyzed at the workstation with knowledge of the clinical suspicion to confirm or discard the possibility of FCD. Results: Five patients aged 19-48 months were studied, all with initial 3T MRI studies interpreted as normal. All had focal epileptic hypothesis with coherence of clinical seizure characterization and electroencephalographic findings. In two patients, histology showed type 1 FCD. Due to the age of our subjects, the junction map always highlighted the subcortical white matter in relationship to maturity differences. FCD was identified as asymmetric U-shaped highlighted regions in the junction map. Significance: FCD is the most frequent pathology reported in pediatric epilepsy surgery series (Epileptic Disord, 18, 2016, 240). Significant number of FCDs may be overlooked on MRIs, reducing the odds of seizure freedom after surgery (Epilepsy Res, 89, 2010, 310). MAP is an image postprocessing method for enhanced visualization of FCD; however, when using an adult template in developing brains, normal subcortical regions may be highlighted as pathological. Creating a pediatric template is difficult, due to the need for general anesthesia to acquire the MRI database. Here, we were able to show that MAP identified FCDs as asymmetric "U-" shaped highlighted regions in the junction maps of all five patients, which may indicate that obtaining childhood databases for this purpose may not be necessary and that adult ones suffice for diagnosis of FCD.

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Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutation: c. 260C>A (p. Pro87Gln).

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Tumefactive demyelinating lesions are a rare disorder in which inflammatory demyelination manifests as solitary or multiple focal brain lesions (greater than 2 cm in size), which can be mistaken for glioma, lymphoma, metastasis and in some cases even brain abscess. The symptomatology of tumefactive demyelinating lesions depends on the white matter area involved and includes quickly progressing neurological deterioration of motor, sensory and visual function, praxis, language and mood impairment, as well as seizures. Recognising the key imaging features in a patient with a prior history of demyelination may expedite appropriate management. Preoperative diagnosis or at least the consideration of a demyelinating process is important to avoid unnecessary surgery. We report three patients with demyelinating lesions who presented with findings suggestive of demyelination on conventional magnetic resonance imaging studies. However, in all patients the lesions showed high perfusion and in two high permeability, which are findings generally seen with high-grade neoplasias. In rare instances, tumefactive demyelinating lesions may show increased perfusion and high permeability, imaging findings more commonly seen in high-grade gliomas. We suggest that if white matter lesions on conventional magnetic resonance imaging are compatible with tumefactive demyelinating lesions, atypical findings of high perfusion/permeability should not dissuade the radiologist from suggesting the presence of tumefactive demyelinating lesions rather than high-grade gliomas.

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BACKGROUND: Hydatidosis is an endemic zoonosis in different areas of Chile, including the Region of Coquimbo, this is linked to the slaughter of cattle and presence of dogs. OBJECTIVE: To identify risk factors related to hydatidosis in the home of high school students of Punitaqui. MATERIAL: A descriptive cross-sectional study was done by the application of a self-administered questionnaire to 274 students of high school. The information was analyzed by urban/rural area in five dimensions: knowledge, basic sanitation, keeping dogs, vegetable growing and cattle slaughtering and possession. RESULTS: 84.6% of urban students reported not having received hydatidosis education. In rural areas, 93.5% reported owning dogs, with an average of 2.95 dogs/home (p < 0.001). In urban areas 44.4% of the dogs had not been dewormed and 60.3% (p < 0.001) was fed with viscera in rural areas. The 66.2% of cattle were goats and sheep and 64.5% (p < 0.001) of rural households did slaught. The main way to eliminate viscera was feeding the dogs. CONCLUSIONS: Risk factors that favor the presence of the parasite were present in relation to keeping dogs and cattle breeding and slaughter, which occurred mostly in rural areas, but being also present in urban areas.

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Background: Hydatidosis is an endemic zoonosis in different areas of Chile, including the Region of Coquimbo, this is linked to the slaughter of cattle and presence of dogs. Objective: To identify risk factors related to hydatidosis in the home of high school students of Punitaqui. Material: A descriptive cross-sectional study was done by the application of a self-administered questionnaire to 274 students of high school. The information was analyzed by urban/rural area in five dimensions: knowledge, basic sanitation, keeping dogs, vegetable growing and cattle slaughtering and possession. Results: 84.6% of urban students reported not having received hydatidosis education. In rural areas, 93.5% reported owning dogs, with an average of 2.95 dogs/home (p < 0.001). In urban areas 44.4% of the dogs had not been dewormed and 60.3% (p < 0.001) was fed with viscera in rural areas. The 66.2% of cattle were goats and sheep and 64.5% (p < 0.001) of rural households did slaught. The main way to eliminate viscera was feeding the dogs. Conclusions: Risk factors that favor the presence of the parasite were present in relation to keeping dogs and cattle breeding and slaughter, which occurred mostly in rural areas, but being also present in urban areas.

Introducción: La hidatidosis es una zoonosis endémica en diferentes zonas de Chile y en la Región de Coquimbo, ligada a la faena de ganado y presencia de perros. Objetivo: Identificar factores de riesgo relacionados con hidatidosis en hogares de estudiantes de enseñanza media de la comuna de Punitaqui. Material: Se realizó un estudio transversal, descriptivo, aplicándose un cuestionario auto-administrado a 274 estudiantes de enseñanza media. Se analizó según zona urbana/rural en cinco dimensiones: conocimientos, saneamiento básico, tenencia de perros, cultivo de vegetales y, tenencia y faena de ganado. Resultados: El 84,6% de los estudiantes urbanos manifestó no haber recibido educación sobre hidatidosis. En zonas rurales, 93,5% señaló poseer perros, promediando 2,95 perros/vivienda (p < 0,001) y 60,3% (p < 0,001) era alimentado con vísceras. En zonas urbanas, 44,4% de los perros no había sido desparasitado. El 66,2% del alumnado declaró poseer ganado caprino y ovino y 64,5% (p < 0,001) de hogares rurales faenaba. La eliminación de vísceras era destinada principalmente para alimentación de perros. Conclusiones: Se presentaron factores de riesgo que favorecen la presencia del parásito, relacionados a la tenencia de perros y crianza y faena de ganado, los que fueron mayoritarios en sectores rurales siendo igualmente altos en zonas urbanas.

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The objective of this study was to evaluate the effect of passive or active phosphoric acid (PA) application after hydrofluoric acid (HA) treatment on the microshear bond strength of lithium disilicate. Thirty ceramic discs were made with IPS Emax 2 (10 mm thick and 10 mm diameter). The specimens were divided into 3 groups, A: 9.6% HA application; AF: 9.6% HA application + cleaning with 37% PA in passive mode and AFF: 9.6% HA application + cleaning with 37% PA in active mode. For the microshear test, four tygons (0.9 mm diameter and 0.2 mm high) were filled with resin cement (RelyX Ultimate) and placed on the ceramic disks. After testing, the fracture modes were examined under scanning electron microscopy. Data were analyzed by one-way ANOVA and Tukey's post test (α=0.05). The bond strength values were significantly higher in Group AFF (11.0±2.5 MPa) compared with group A (8.1±2.6 MPa) (p<0.002). AF group was not statistically different (9.4±2.5 MPa) from Group A. It was concluded that the active application of 37% PA after 9.6% HA increases the microshear bond strength values between the resin cement and lithium disilicate ceramic.

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Abstract The objective of this study was to evaluate the effect of passive or active phosphoric acid (PA) application after hydrofluoric acid (HA) treatment on the microshear bond strength of lithium disilicate. Thirty ceramic discs were made with IPS Emax 2 (10 mm thick and 10 mm diameter). The specimens were divided into 3 groups, A: 9.6% HA application; AF: 9.6% HA application + cleaning with 37% PA in passive mode and AFF: 9.6% HA application + cleaning with 37% PA in active mode. For the microshear test, four tygons (0.9 mm diameter and 0.2 mm high) were filled with resin cement (RelyX Ultimate) and placed on the ceramic disks. After testing, the fracture modes were examined under scanning electron microscopy. Data were analyzed by one-way ANOVA and Tukey's post test (α=0.05). The bond strength values were significantly higher in Group AFF (11.0±2.5 MPa) compared with group A (8.1±2.6 MPa) (p<0.002). AF group was not statistically different (9.4±2.5 MPa) from Group A. It was concluded that the active application of 37% PA after 9.6% HA increases the microshear bond strength values between the resin cement and lithium disilicate ceramic.

Resumo O objetivo desse estudo foi avaliar o efeito da aplicação passiva ou ativa do ácido fosfórico após o tratamento com ácido hidrofluorídrico na resistência de união ao microcisalhamento entre cimento resinoso e dissilicato de lítio. Trinta discos foram confeccionados com IPS Emax 2 (10 mm de espessura e 10 mm de diâmetro). Os espécimes foram divididos em três grupos (A: aplicação do ácido hidrofluorídrico 9,6%; AF: aplicação do ácido hidrofluorídrico 9,6% + limpeza com ácido fosfórico 37% em modo passivo; AFF: aplicação do ácido hidrofluorídrico 9,6% + limpeza com ácido fosfórico 37% no modo ativo). Para o teste de microcisalhamento, quatro tygons (0,9 de diâmetro e 0,2 mm de altura) foram preenchidos com cimento resinoso (RelyX Ultimate) e dispostos sobre os discos de cerâmica. Após o teste, os modos de fratura foram examinados por microscopia eletrônica de varredura. Os dados foram analisados estatisticamente por ANOVA e pós-teste de Tukey (α=0,05). Os valores de resistência de união foram significativamente superiores para o grupo AFF (11,0±2,5 MPa), comparado ao grupo A (8,1±2,6 MPa) (p<0,002), mas este não estatisticamente diferente do grupo AF (9,4±2,5 MPa). Concluiu-se que a aplicação ativa do ácido fosfórico 37% após o uso do ácido hidrofluorídrico 9,6% aumenta a resistência de união entre o cimento resinoso e a cerâmica de dissilicato de lítio.

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