Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review. / Evaluación psicológica y cognitiva de autismo en un paciente con síndrome de MOMO: reporte de caso y revisión de la literatura.

MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described. We present a new case of a patient with MOMO syndrome, who consulted for hallucinatory phenomena. He completed a neuropsychological, clinical and cognitive evaluation, showing a borderline intelligence quotient and fulfilled the criteria for autism spectrum disorder. This is the first neurocognitive evaluation of a patient with MOMO, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.

MOMO es un acrónimo para los términos macrosomía, obesidad, macrocefalia y anomalías oculares. El síndrome fue descrito por primera vez en 1993, con un total de nueve pacientes publicados a la fecha. Todos los casos reportaron discapacidad intelectual y en un caso se describió a un paciente con autismo. Presentamos un nuevo caso de paciente con síndrome de MOMO que consultó por fenómenos alucinatorios. Se completó una evaluación neuropsicológica, clínica y cognitiva, en donde se demostró un cociente intelectual limítrofe y se corroboraron los criterios para trastorno del espectro autista. Ésta es la primera evaluación neurocognitiva de un paciente con MOMO, la que apoya el uso de escalas estandarizadas a fin de evaluar el autismo y otras comorbilidades psiquiátricas en pacientes con síndromes genéticos.

Mediastinal irradiation in a patient affected by lung carcinoma after heart transplantation: Helical tomotherapy versus three dimensional conformal radiotherapy.

Patients who have undergone solid organ transplants are known to have an increased risk of neoplasia compared with the general population. We report our experience using mediastinal irradiation with helical tomotherapy versus three-dimensional conformal radiation therapy to treat a patient with lung carcinoma 15 years after heart transplantation. Our dosimetric evaluation showed no particular difference between the techniques, with the exception of some organs. Mediastinal irradiation after heart transplantation is feasible and should be considered after evaluation of the risk. Conformal radiotherapy or intensity-modulated radiotherapy appears to be the appropriate treatment in heart-transplanted oncologic patients.

Normative data of cortical excitability measurements obtained by transcranial magnetic stimulation in healthy subjects.

INTRODUCTION: The assessment of cortical excitability (CE) measurements has been increasingly used in neuropsychiatric research. However, there is scant information on the normative values of these measurements, as well as the possible effect of hemisphere laterality, gender and age on these variables. OBJECTIVES: To obtain normative data for CE measurements by transcranial magnetic stimulation, to assess inter-/intra-investigator variability and the influence of sex, age and oral contraception use. METHODS: A sample of 216 healthy volunteers matched according to age and gender was evaluated. Bilateral rest motor thresholds, motor evoked potentials (MEP), intracortical inhibition and facilitation were measured in the first dorsal interosseous muscle area representation of the primary motor cortex with a circular transcranial magnetic stimulation coil delivering biphasic pulses. Normative data were obtained for 200 participants (in a 1:1 male:female ratio) in a balanced proportion between five age groups (18-30; 31-40; 41-50; 51-60; >60 years). Inter/intra-investigator variability was assessed in 20 healthy volunteers in two sessions performed within a 30-minute interval. Measurements were also performed in a subgroup of 16 healthy female volunteers, using oral contraception and during the menstrual phase. RESULTS: Age had a dichotomous effect on CE measurements, providing significantly different normative data for subjects <50 and >50 years old, with smaller MEP's and intracortical inhibition in older individuals. There were no differences between genders or between left and right hemispheres. Also, CE parameters did not significantly differ with use of contraceptive treatment compared to the menstrual phase of the cycle. The inter-/intra-investigator reliability assessment showed some variability that may not be clinically significant. CONCLUSIONS: Age had a non-linear effect on CE. There were non-significant differences between genders, hemispheres or with use of oral contraceptives. There was good inter-/intra-investigator correlation for rest motor thresholds and motor evoked potentials while intracortical inhibition and facilitation had low correlations but acceptable reliability.

Tomotherapy concomitant with cetuximab, followed by cetuximab as single-agent therapy for unresectable squamous cell carcinoma of the skin: a case report.

BACKGROUND: Cutaneous squamous cell carcinoma (SCC) is the second most frequency of all skin tumors. Incidence of SCC has risen significantly due to an increased sun exposure and the number of immunodeficient patients. Cutaneous SCC is characterized by high Epidermal growth factor receptor (EGFR) expression with low frequency of RAS mutations. Generally, locoregional surgery is curative and systemic therapy is not indicated. We evaluated the activity and toxicity profile of tomotherapy concomitant with Cetuximab, followed by Cetuximab as single agent therapy in a patient affected by unresectable, locally advanced cutaneous SCC. CASE PRESENTATION: At our institution, on March 2012 we treated a 45 years-old patient affected by locally advanced, unresectable G1 SCC of the lumbar region. At our first observation, the patient was asthenic, with severe pain and functional limitations. There was also a superinfection due to Pseudomonas Aeruginosa resistant to antibiotics, and a G3 anemia secondary to the bleeding lesion. ECOG Performance Status was 2. Tomotherapy has been performed concomitant with the Cetuximab (400 mg/m2, followed by weekly doses of 250 mg/m2) at the total dose of 60 Gy (2 Gy/fx), followed by Cetuximab monotherapy.The lesion reduced progressively until disappear even after the suspension of the treatment and the patient achieved complete response. Toxicity resulted in G1 cutaneous rash and G2 toxicity to the nails, appeared after 5 months of treatment, typical toxicity profile of the anti-EGFR therapies. After one month of therapy the Pseudomonas Aeruginosa superinfection totally disappeared. Quality of life resulted significantly improved with reduction until discontinuation of the anti-pain drugs, and progressive increase of the hemoglobin levels. At follow up of 15 months there was no evidence of active disease and the ECOG Performance Status was 0 (zero). CONCLUSION: The treatment was effective and feasible. Considering these excellent results, further studies about concomitant tomotherapy with Cetuximab for advanced/inoperable SCC of the skin are needed.

Hypofractionated breast cancer radiotherapy. Helical tomotherapy in supine position or classic 3D-conformal radiotherapy in prone position: which is better?

We propose a comparative dosimetric study of whole-breast hypofractionated radiation therapy using helical tomotherapy (HT) in supine position and 3-D conformal radiotherapy (3D-CRT) in prone position. Twelve patients undergoing breast-conserving therapy were retrospectively selected from October to December 2012. Specific dose-volume parameters were selected for the study. The target coverage was adequate in all patients for both techniques. Significant differences in lung dose distribution were observed: maximum dose (mean value over the 12 plans) was 23.41 Gy in HT plans and 6.65 Gy in 3D-CRT; V20 (i.e. the lung volume receiving 20 Gy) was 0.31% in HT plans and 0.0% in 3D-CRT plans. The mean dose to the heart was 5.57 Gy and 0.93 Gy, respectively. The differences between the two techniques were significant (p<0.05) only for some parameters. We noted better results in the prone position, but with HT, dose constraints were mentioned for the whole set of considered organs.

Equação de biomassa e estoque de carbono do pinhão manso, no município de Viçosa, MG / Biomass equation and carbon stock of jatropha crop, in Viçosa, Minas Gerais, Brazil

O presente trabalho teve como objetivo estimar equações de biomassa e o estoque de carbono da cultura do Pinhão Manso (Jatrophacurcas L.). A área estudada localiza-se no município de Viçosa, MG. O plantio foi realizado em espaçamento 3,5x3,0m, em 4,64ha. Para quantificação da biomassa, foi utilizado o método direto e destrutivo, aplicado às árvores-amostra, que foram selecionadas de acordo com as medidas da altura, do diâmetro das copas e do número de ramos. A determinação da biomassa de cada árvore foi obtida pelo método da proporcionalidade. Os modelos testados foram adaptados de Spurr e de Schumacher & Hall, para biomassa aérea e biomassa total (biomassa aérea mais biomassa de raízes pivotantes). O estoque de carbono foi estimado através da multiplicação da biomassa seca pelo teor de carbono da matéria seca, que foi obtido pelo método da calcinação em mufla. A estimativa do CO2 equivalente estocado foi obtida pela multiplicação do estoque de carbono pelo fator 44/12. A equação que obteve melhor ajuste e que foi utilizada para determinação do estoque de carbono deste estudo foi a de Spurr, com os dados de biomassa total, B=0,7601*(DC2*H)0,8949, em que B = biomassa (kg); DC = diâmetro de copa (m); e H = altura (m). O estoque de carbono encontrado da cultura, no quarto ano, foi de 6,79MgC ha-1, correspondendo a 24,89Mg CO2(eq) ha-1. Os resultados mostram que o pinhão-manso é ambientalmente viável para elaboração de projetos MDL de florestamento/reflorestamento ou em projetos de carbono para mercados voluntários, agregando renda ao produtor rural e melhorando a atratividade financeira da cultura.

This study had the objectives to estimate equations of biomass and carbon stock of Jatropha (Jatrophacurcas L.). The area of this study is located in Viçosa, Minas Gerais, planting carried out in 3.5x3.0m spacing at 4.64ha. To biomass quantification, we used the direct destructive method, applied to trees, which were selected according to the measurements of height, canopy diameter and number of branches. The tree biomass determination was obtained by the proportionality method. The adapted models were from Spurr and Schumacher & Hall, for biomass and total biomass (aboveground biomass more taproots biomass). The carbon stock was estimated multiplying the biomass by the carbon content of dry matter, which was obtained by calcination in a muffle. The estimate of the equivalent CO2 stored was obtained by multiplying the carbon stock by a factor 44/12. The equation with better model and who was used for carbon stock determination was to Spurr, using total biomass data, B=0.7601*(CD2*H)0.8949, where B = biomass (kg); CD = canopy diameter (m); e H = height (m). The carbon stock of culture, founded to the fourth year, was 6.79MgC ha-1, corresponding to 24.89MgCO2(eq) ha-1. The results shows that Jatropha is environmentally viable for development of CDM afforestation / reforestation projects or carbon projects to voluntary markets, adding income to farmers and improving the financial attractiveness of the crop.

Aplicación de la escala National Institutes of Health Stroke Scale (nihss) en pacientes ingresados en el Hospital Vicente Corral Moscoso con diagnóstico de enfermedad cerebrovascular isquémica: enero - diciembre de 2004

Estudio descriptivo de pacientes con ictus isquémico ingresados en el Hospital Vicente Corral dentro de las 24 horas de inicio de síntomas, desde enero a diciembre de 2004. El daño neurológico inicial fue cuantificado usando la NIHSS. El desenlace neurológico fue valorado a los 7 días y 3 meses utilizando el Indice de Barthel. De 75 pacientes ingresados en el período de estudio, 24 cumplieron los criterios de inclusión y 23 completaron el seguimiento. A los 3 meses 66.7% de pacientes, con puntaje inicial NIHSS < 6 evolucionaron a un resultado excelente. Los pacientes con un puntaje NIHSS igual o > 16 Tuvieron un mal desenlace. El 50% de pacientes con un puntaje de 16 a 20 y los pacientes con puntaje > 20 fallecieron. En el análisis estadístico, un puntaje mayor a 13 tuvo un Odds Ratio de 49.5 (IC 95% 4.5 – 480.5) para un desenlace fatal a los 3 meses. La asociación fue significativa lo que otorga al punto de corte de 13 puntos una gran validez para pronosticar un buen o mal desenlace.

[Flu vaccination in patients with acute coronary syndromes: treatment benefit in prespecified subgroups]. / Vacunación antigripal en pacientes con síndromes coronarios agudos: beneficio del tratamiento en diferentes subgrupos.

BACKGROUND: The first prospective clinical Flu Vaccination in Acute Coronary Syndromes (FLUVACS) Trial has provided some evidence that flu vaccination together with standard therapy may be useful during the winter season to reduce the risk of death and major cardiac events in patients with acute myocardial infarction. PATIENTS AND METHOD: Information available in the FLUVACS database was analyzed to evaluate the efficacy of flu vaccination in different subgroups. Logistic regression was used to identify features related with better therapeutic results. RESULTS: Flu vaccination was effective in reducing the incidence of the composite endpoint (death, nonfatal myocardial reinfarction or recurrent angina prompting urgent revascularization) in most subgroups at 6 months after inclusion. The regression model showed a greater benefit of flu vaccination in patients with no ST-segment elevation or older than 65 years, nonsmokers and patients with a TIMI risk score higher than 6. CONCLUSIONS: Our data suggest that vaccination for secondary prevention of flu during the acute phase of myocardial infarction may be effective in a broad range of patients with acute coronary artery disease, regardless of their initial clinical risk.

Vacunación antigripal en pacientes con síndromes coronarios agudos: beneficio del tratamiento en diferentes subgrupos / Flu vaccination in patients with acute coronary syndromes: treatment benefit in prespecified subgroups

Introducción. El primer ensayo prospectivo sobre vacunación antigripal en pacientes con síndromes coronarios agudos (estudio FLUVACS) demostró que su aplicación durante la época invernal, sumada a la medicación estándar, fue más efectiva para reducir el riesgo de muerte y episodios cardiovasculares mayores en pacientes con infarto agudo de miocardio. Pacientes y método. Se analizó la información disponible de la base de datos del estudio FLUVACS, para evaluar la eficacia de la vacunación antigripal en diferentes subgrupos de pacientes. Se empleó un método estadístico de regresión logística para determinar qué rasgos estaban relacionados con un mejor resultado terapéutico. Resultados. La vacunación antigripal fue efectiva para reducir la incidencia del punto final combinado (muerte, reinfarto no fatal o angina recurrente que requiriera revascularización urgente) en la mayoría de los subgrupos a los 6 meses de seguimiento después de la inclusión. El modelo estadístico de regresión reveló un mayor beneficio con la vacunación antigripal en pacientes sin elevación del segmento ST, en los enfermos mayores de 65 años de edad, en los no fumadores y en pacientes con calificación de riesgo TIMI > 6. Conclusiones. Los resultados obtenidos en este estudio indican que el uso de la vacunación antigripal como prevención secundaria en pacientes que cursan la fase aguda de un infarto de miocardio podría beneficiar a un amplio grupo de enfermos con este diagnóstico, independientemente del riesgo clínico basal (AU)

Cirugía coronaria en pacientes ancianos. Resultados hospitalarios y a largo plazo / Coronary Artery Bypass Grafting in Elderly Patients. In-Hospital Results and Long-Term Follow-up

Introducción y objetivos. Actualmente es cada vez mayor el número de pacientes ancianos que son sometidos a cirugía de revascularización miocárdica. Los objetivos de este trabajo fueron estudiar la evolución hospitalaria y a largo plazo de pacientes mayores de 75 años sometidos a cirugía coronaria pura e identificar predictores clínicos de mortalidad y síntomas largo plazo. Métodos. Entre abril de 1996 y febrero de 2000 se analizaron, en forma prospectiva y consecutiva, 207 pacientes mayores de 75 años sometidos a cirugía coronaria pura. La edad media fue de 78,4 ñ 2,7 años. Resultados. Se realizó un promedio de 2,6 puentes/ paciente. La arteria mamaria izquierda fue empleada en el 93 por ciento de los pacientes. La incidencia intrahospitalaria de insuficiencia cardíaca, fibrilación auricular, infarto perioperatorio y accidente cerebrovascular fue del 38, 29, 4,8 y 2,8 por ciento, respectivamente. Fallecieron durante el período hospitalario el 5,8 por ciento de los pacientes. La mediana de seguimiento fue de 18 meses (intervalo intercuartil, 9-29). Ocho pacientes (4,1 por ciento) fallecieron durante el seguimiento tardío. Excluyendo a los fallecidos en el hospital, la probablidad estimada (Kaplan-Meier) de estar vivo y de sobrevivir libre de síntomas en clase funcional III-IV a 3 años fue del 94 y del 86 por ciento, respectivamente. El análisis multivariado mostró que sólo la edad fue predictora de mortalidad hospitalaria (OR, 1,26; p = 0,009). La presencia de enfermedad vascular periférica resultó la única predictora de síntomas en el seguimiento a largo plazo (p = 0,001). Conclusiones. En esta serie de pacientes seniles sometidos a cirugía coronaria se demuestra que los de edad más avanzada (> 80 años) presentan un riesgo de mortalidad hospitalaria mayor. La presencia de enfermedad vascular periférica resulta útil en la valoración pronóstica del grupo (AU)