[Immunohistochemistry using clone VE1 is an economic, specific and sensitive method for detecting the presence of BRAFV600E mutations in melanoma]. / L'immunohistochimie (clone VE1) est une méthode économique, spécifique et sensible pour détecter la présence d'une mutation BRAFV600E dans le mélanome.

BACKGROUND: Determination of BRAF mutation status is mandatory in the management of patients with inoperable stage IIIC or stage IV melanoma. Currently, molecular biology (MB) has been validated for detecting the presence of BRAF mutations. OBJECTIVE: To compare the sensitivity, specificity and cost of immunohistochemistry (IHC) (clone VE1) versus BM methods (qPCR and Sanger sequencing). PATIENTS AND METHODS: All the samples for which BRAF mutation status was requested between March 2013 and February 2015 at the cellular and molecular analysis laboratory of the Angers Hospital were included retrospectively and consecutively. The IHC (clone VE1) and BM analyses were performed with the same formalin-fixed paraffin embedded tumour samples. The cost of these two methods was determined on the basis of the cost for the French Health Insurance. RESULTS: Two hundred and seven samples were subjected to a determination of BRAF mutational status in IHC and BM. Only one sample was discordant between these two methods (positive in IHC, negative in BM). The sensitivity and specificity of the IHC was 100% and 99.25% respectively. The ratio of the cost of IHC/BM testing was 1:2.1. CONCLUSION: IHC (clone VE1) is a specific, sensitive and economic method for determining BRAFV600E mutation status. Nevertheless, this method must be validated in order to be integrated into a decisional algorithm, alongside BM methods, to determine whether targeted BRAF-inhibitor therapy is indicated.

Perspectives of drug-based neuroprotection targeting mitochondria.

Mitochondrial dysfunction has been reported in most neurodegenerative diseases. These anomalies include bioenergetic defect, respiratory chain-induced oxidative stress, defects of mitochondrial dynamics, increase sensitivity to apoptosis, and accumulation of damaged mitochondria with instable mitochondrial DNA. Significant progress has been made in our understanding of the pathophysiology of inherited mitochondrial disorders but most have no effective therapies. The development of new metabolic treatments will be useful not only for rare mitochondrial disorders but also for the wide spectrum of common age-related neurodegenerative diseases shown to be associated with mitochondrial dysfunction. A better understanding of the mitochondrial regulating pathways raised several promising perspectives of neuroprotection. This review focuses on the pharmacological approaches to modulate mitochondrial biogenesis, the removal of damaged mitochondria through mitophagy, scavenging free radicals and also dietary measures such as ketogenic diet.

Demora en la llegada de pacientes con hemorragia subaracnoidea a un hospital terciario / Delays in the arrival of patients with subarchnoid haemorrahage at a tertiary hospital

Introducción. Se recomienda que los pacientes con hemorragia subaracnoidea se remitan precozmente a un hospital terciario. Esta investigación tiene como objetivo estudiar la demora en la llegada de estos pacientes a un centro terciario de La Habana. Pacientes y métodos. Estudio prospectivo de pacientes con hemorragia subaracnoidea que ingresaron en la Unidad de Ictus del Hospital Hermanos Ameijeiras entre enero de 2005 y diciembre de 2007. Se determinó el momento de llegada al hospital, y se compararon los pacientes que llegaron después de las 72 horas con aquéllos que lo hicieron antes. Resultados. Se estudiaron 94 pacientes. Sólo 34 (36%) llegaron en los primeros tres días, mientras que 13 (13,8%) lo hicieron en las primeras 24 horas. Ninguna de las variables sociodemográficas y clínicas evaluadas se asoció a la remisión temprana. La estancia hospitalaria de los pacientes recibidos en las primeras 72 horas fue de 14,9 días, mientras que en el resto fue de 17,57 días (p = 0,248). El impacto mayor de la remisión precoz al centro terciario fue sobre el resultado a la salida en la escala de Rankin, que fue inferior en los que llegaron temprano en relación con el resto de los casos (p = 0,05), al igual que la mortalidad, que fue del 5,9% en los que llegaron en las primeras 72 horas, frente al 11,7% en el resto (p = 0,04). Conclusiones. Sólo un tercio de los casos se recibió en las primeras 72 horas, y este grupo tuvo una evolución más favorable (AU)

Introduction. Patients with subarachnoid haemorrhage should be referred to a tertiary hospital as early as possible. The aim of this research was to study how long these patients take to reach a tertiary care centre in Havana. Patients and methods. We conducted a prospective study of patients with subarachnoid haemorrhage who were admitted to the Stroke Unit at the Hospital Hermanos Ameijeiras between January 2005 and December 2007. The time of arrival at the hospital was determined and a comparison was carried out between patients who arrived after 72 hours and those who reached the hospital sooner. Results. The sample studied comprised 94 patients. Only 34 (36%) arrived during the first three days, whereas 13 (13.8%) reached the hospital within the first 24 hours. None of the sociodemographic and clinical variables that were studied was associated with early remission. The length of time spent in hospital by patients admitted during the first 72 hours was 14.9 days, while in the other cases it was 17.57 days (p = 0.248). The greatest impact on early remission to the tertiary centre was on the outcome at discharge on the Rankin scale, which was lower in those who arrived early compared to the rest of the cases (p = 0.05); the same was true of mortality, which was 5.9% in those who arrived within the first 72 hours versus 11.7% in the others (p = 0.04). Conclusions. Only a third of the cases reached hospital during the first 72 hours and this group had a more favourable course (AU)

[Delays in the arrival of patients with subarachnoid haemorrhage at a tertiary hospital]. / Demora en la llegada de pacientes con hemorragia subaracnoidea a un hospital terciario.

INTRODUCTION: Patients with subarachnoid haemorrhage should be referred to a tertiary hospital as early as possible. The aim of this research was to study how long these patients take to reach a tertiary care centre in Havana. PATIENTS AND METHODS: We conducted a prospective study of patients with subarachnoid haemorrhage who were admitted to the Stroke Unit at the Hospital Hermanos Ameijeiras between January 2005 and December 2007. The time of arrival at the hospital was determined and a comparison was carried out between patients who arrived after 72 hours and those who reached the hospital sooner. RESULTS: The sample studied comprised 94 patients. Only 34 (36%) arrived during the first three days, whereas 13 (13.8%) reached the hospital within the first 24 hours. None of the sociodemographic and clinical variables that were studied was associated with early remission. The length of time spent in hospital by patients admitted during the first 72 hours was 14.9 days, while in the other cases it was 17.57 days (p = 0.248). The greatest impact on early remission to the tertiary centre was on the outcome at discharge on the Rankin scale, which was lower in those who arrived early compared to the rest of the cases (p = 0.05); the same was true of mortality, which was 5.9% in those who arrived within the first 72 hours versus 11.7% in the others (p = 0.04). CONCLUSIONS: Only a third of the cases reached hospital during the first 72 hours and this group had a more favourable course.

Demora en la llegada de pacientes con hemorragia subaracnoidea a un hospital terciario / Delays in the arrival of patients with subarachnoid haemorrhage at a tertiary hospital

Se recomienda que los pacientes con hemorragia subaracnoidea se remitan precozmente a un hospital terciario. Esta investigación tiene como objetivo estudiar la demora en la llegada de estos pacientes a un centro terciario de La Habana. Pacientes y métodos. Estudio prospectivo de pacientes con hemorragia subaracnoidea que ingresaron en la Unidad de Ictus del Hospital Hermanos Ameijeiras entre enero de 2005 y diciembre de 2007. Se determinó el momento de llegada al hospital, y se compararon los pacientes que llegaron después de las 72 horas con aquéllos que lo hicieron antes. Se estudiaron 94 pacientes. Sólo 34 (36 por ciento) llegaron en los primeros tres días, mientras que 13 (13,8 por ciento) lo hicieron en las primeras 24 horas. Ninguna de las variables sociodemográficas y clínicas evaluadas se asoció a la remisión temprana. La estancia hospitalaria de los pacientes recibidos en las primeras 72 horas fue de 14,9 días, mientras que en el resto fue de 17,57 días (p = 0,248). El impacto mayor de la remisión precoz al centro terciario fue sobre el resultado a la salida en la escala de Rankin, que fue inferior en los que llegaron temprano en relación con el resto de los casos (p = 0,05), al igual que la mortalidad, que fue del 5,9 por ciento en los que llegaron en las primeras 72 horas, frente al 11,7 por ciento en el resto (p = 0,04). Sólo un tercio de los casos se recibió en las primeras 72 horas, y este grupo tuvo una evolución más favorable(AU)

[Pituitary adenomas invading the cavernous sinus. Transcranial transcavernous approach]. / Adenomas hipofisarios con invasiòn intracavernosa. Resultados del abordaje trancraneal al seno cavernoso.

UNLABELLED: Pituitary adenomas represent a significant proportion (+o-13%) of all intracranial tumors. Surgical treatment is as rule performed by transsphenoidal approach. However, a small but not insignificant subgroup of pituitary adenomas (5 to 7%) invade the lateral parasellar structures and the cavernous sinus in particular, and poses obvious problems to the therapeutic strategy, since transsphenoidal removal of these adenomas is usually incomplete. OBJECTIVE: To evaluate the results of transcranial removal of a consecutive series of pituitary adenomas invading the cavernous sinus. MATERIAL AND METHOD: A retrospective study of 9 patients harbouring pituitary adenomas invading the cavernous sinus who had been submitted to transcranial surgery was conducted. These patients were operated on in the time span June 1999 - December 2003, in the Nuova Clinica Latina (now NCL- Neurological Centere of Latium), Rome Italy, and the Hospital "Hermanos Ameijeiras", La Habana, Cuba, using a fronto-orbitozigomatic (FOZ) craniotomy, anterior clinoidectomy and a limited dissection of the cavernous sinus through the antero-medial triangle. RESULTS: Total macroscopical removal was achieved in 8 cases, partial in 1, who showed improvement or normalization of the hormonal levels and of the preoperative symptoms. Transitory complications occurred in 6 patients, one of them showed a permanet neurological deficit (paresis of the III cranail nerve). CONCLUSIONS: Transcranial transcavernous approach is an effective technique for attempting total removal of intracavernous pituitary adenomas. It allows to achieve remission of symptoms and hormonal control in the medium-long term. However complications are relatively frequent, and permanent sequelae are not negligible.

Adenomas hipofisarios con invasiòn intracavernosa. Resultados del abordaje transcraneal al seno cavernoso / Pituitary adenomas invading the cavernous sinus. Transcranial transcavernous approach

Los adenomas hipofisarios representan el 13% delos tumores intracraneales. Generalmente el abordaje transesfenoidal es suficiente para su manejo, pero de un 5 a un 7% de los mismos se comporta de forma invasiva. El tratamiento de este subgrupo ha sido tradicionalmente incompleto (exéresis transesfenoidal parcial + radioterapia) y conduce a una elevada tasa de recidivas. Objetivos. Evaluar los resultados obtenidos con el abordaje transcavernoso en los adenomas hipofisarios con extensión intracavernosa. Material y método. Se realiza un estudio retrospectivo de 9 pacientes, cuya lesión fue abordada a travésdel triángulo antero medial mediante craneotomía fronto-órbito-zigomática en la Nuova Clinica Latina de Roma y el Hospital Hermanos Ameijeiras de Ciudad dela Habana entre Junio del 1999 y Junio del 2003.Resultados. En 8 casos se logró la exégesis total microscópicamente y parcial en 1. Con mejoría y/o normalización de los niveles hormonales y de la sintomatología preoperatoria. Se observaron complicaciones transitorias en 6 pacientes y la secuela más importante fue la paresia del III nervio craneal. Conclusiones. La exéresis transcavernosa es una técnica eficaz cuando se pretende resecar radicalmente la lesión, lograr remisión de los síntomas y conseguir descenso hormonal en el caso de los productores, aunque las complicaciones y secuelas pueden ser importantes

Pituitary adenomas represent a significant proportion (+o-13%) of all intracranial tumors. Surgical treatment is as rule performed by transsphenoidal approach. However, a small but not insignificant subgroup of pituitary adenomas (5 to 7%) invade the lateral parasellar structures and the cavernous sinus in particular, and poses obvious problems to the therapeutic strategy, since transsphenoidal removal of the seadenomas is usually incomplete. Objective. To evaluate the results of transcranial removal of a consecutive series of pituitary adenomas invading the cavernous sinus. Material and method. A retrospective study of 9patients harbouring pituitary adenomas invading the cavernous sinus who had been submitted to transcranial surgery was conducted. These patients were operated on in the time span June 1999 - December 2003, in the Nuova Clinica Latina (now NCL- Neurological Centere of Latium), Rome Italy, and the Hospital "HermanosAmeijeiras", La Habana, Cuba, using a fronto-orbitozigomatic(FOZ) craniotomy, anterior clinoidectomy and a limited dissection of the cavernous sinus through the antero-medial triangle. Results. Total macroscopical removal was achieved in 8 cases, partial in 1, who showed improvement or normalization of the hormonal levels and of the preoperative symptoms. Transitory complications occurred in6 patients, one of them showed a permanent neurological deficit (paresis of the III cranail nerve).Conclusions. Transcranial transcavernous approach is an effective technique for attempting total removal of intracavernous pituitary adenomas. It allows to achieve remission of symptoms and hormonal control in the medium-long term. However complications are relatively frequent, and permanent sequelae are not negligible

[Deep venous thrombosis: an early manifestation of Behçet's disease in childhood]. / Trombosis venosa profunda como manifestación precoz de la enfermedad de Behçet en la infancia.

Behcet's disease is a multisystemic vasculitis of unknown origin whose classical triad is oral and genital ulcers and uveitis. Deep venous thrombosis may sometimes be the first manifestation of this disease but is very rare in children. We report the case of a 14-year-old boy with deep venous thrombosis of the leg and a history of severe aphthous gingivostomatitis, perianal ulcers, Henoch-Schonlein purpura, ecchymotic lesions on the lower limbs and intermittent swelling of the left ankle. Complementary tests ruled out the main causes of thrombosis in children. HLA-B5 and B-51 study proved positive, which, together with the patient's history, suggested a diagnosis of Behcet's disease. This disease usually presents around the third decade of life and is very unusual in children. This case is exceptional because thrombosis as an early manifestation of Behcet's disease is very rare in children and because it led to the diagnosis of Behcet's disease in our patient.

Trombosis venosa profunda como manifestación precoz de la enfermedad de Behçet en la infancia / Deep venous thrombosis: an early manifestation of Behçet´s disease in childhood

La enfermedad de Behçet es una vasculitis multisistémica de origen desconocido cuya tríada clásica son aftas orales, úlceras genitales y uveítis. En ocasiones, la trombosis venosa profunda puede ser la primera manifestación, pero es muy rara en niños. Se expone el caso de un varón de 14 años con trombosis venosa profunda del miembro inferior, con antecedentes de gingivostomatitis aftosas graves, úlceras perianales, púrpura de Schönlein-Henoch, lesiones equimóticas en miembros inferiores y tumefacción intermitente del tobillo izquierdo. Mediante pruebas complementarias se descartaron las principales causas de trombosis en niños. La positividad de los antígenos de histocompatibilidad B5 (HLA-B5) y B51, junto con las múltiples manifestaciones previas del paciente llevaron al diagnóstico de la enfermedad de Behçet. Esta se presenta generalmente en torno a la tercera década de la vida, y es poco frecuente en niños. Lo particular de este caso es que la trombosis como manifestación precoz en niños es excepcional y permitió diagnosticar la enfermedad (AU)

Dermatomiositis juvenil / Childhood dermatomyositis

La dermatomiositis juvenil (DMJ) es una enfermedad crónica inflamatoria del tejido conjuntivo, en la que se afecta el músculo estriado y la piel. La etiología es desconocida y, actualmente, los estudios realizados sugieren una patogénesis autoinmune. Es una enfermedad poco frecuente: la incidencia anual se estima en 1-9 casos por 100.000 niños menores de 16 años. Clínicamente, cursa con debilidad muscular proximal simétrica y rash. Se trata de una entidad multisistémica, por lo que a lo largo de su curso pueden aparecer manifestaciones digestivas, cardiacas, oculares, pulmonares y neurológicas. Como tratamiento, el fármaco de elección continúan siendo los corticoides, si bien los inmunosupresores suponen un papel importante en el manejo de estos pacientes. En los últimos años, ha habido cierto avance en el hallazgo de factores genéticos, inmunológicos y patogénicos en el desencadenamiento de la enfermedad. Pero parece ser que la mayor inquietud hoy día es la búsqueda de marcadores de actividad de la enfermedad. La resonancia magnética nuclear (RM) está demostrando ser un instrumento útil en el seguimiento de estos niños cuando es utilizada por manos expertas. Actualmente, la Organización Europea PRINTO (Pediatric Rheumatology International Trials Organization) está realizando un trabajo multicéntrico para establecer criterios de actividad y lesión de la DMJ. Teniendo previsto para el año 2003 emitir los criterios de mejoría (AU)

Gliosarcoma.Presentación de cinco casos y revisión de la bibliografía / Gliosarcoma. Presentation of five cases and review of the literature

No disponible

Evaluación otorrinolaringológica en cinco etnias de la república mexicana / O.R.L. evaluation in five indigenous mexican ethnic groups

Se efectuó un estudio transversal, descriptivo y observacional en cinco etnias de la república mexicana para su evaluación otorrinolaringológica. Se encontró una incidencia global de defectos auditivos del 29.36 por ciento y 305 pacientes con algún tipo de patología otorrinolaringológica (55.96 por ciento), de los cuales la mayor incidencia fue la otitis media serosa (9.27 por ciento). De 545 pacientes estudiados se pudo establecer la necesidad de tratamiento quirúrgico en 106 casos (19.44 por ciento) y de estos prenominaron los tubos de ventilación (9.72 por ciento)

Morfofisiología de la trompa de eustaquio en mamíferos, aves y batracios: estudio comparativo / Morpho-physiology of the eustachian tube in mammals, birds and frogs: comparative estudy

El presente trabajo es un estudio comparativo de la trompa de Eustaquio en mamíferos, aves y batracios, con la finalidad de encontrar un modelo ideal para estudios experimentales de la trompa de Eustaquio. Se describe la anatomía y fisiología de la trompa de Eustaquio en las clases y especies estudiadas, se encontró que la principal diferencia es la situación del torus tubario que varia, pudiéndose encontrar en la rinofaringe o la orofaringe según la especie. Otras diferencias que se describen, en cuanto al funcionamiento del torus tubario en mamíferos, aves y batracios, se relacionan en forma muy especial con el habitat y las circunstancias muy especiales que privan en estos animales, para facilitar la función primordial de la trompa de Eustaquio y el equilibrio de presiones intra y extratimpanicas

Otitis media espontánea en rata / Spontaneous otitis media in rats

En el presente trabajo se realizó un estudio comparativo y descriptivo en dos grupos de ratas: la cepa Wistar y la cepa Long Evans. Se describen los hallazgos en el oído medio de estos animales. Se realizaron estudios macroscópicos, radiológicos e histológicos de los casos de Otitis Media Espontánea y se analizan los resultados de este modelo espontáneo, que puede ser utilizado para estudiar la Otitis Media.

[Formulation, fabrication, and evaluation of a cow's milk formula to Complementary Feeding National Program in Chile]. / Formulación, fabricación y evaluación de una fórmula láctea para el Programa Nacional de Alimentación Complementaria en Chile.

The complementary feeding national programme (PNAC) delivers 2 kg-month of dried full-fat cow's milk (LP) to 0-1 year old infants. The purpose of this work was to design, produce and evaluate nutrient stability and shelf life of a modified LP milk formula (LPM), which seems nutritionally more adequate for infants and is of similar cost than LP, to be included into the PNAC. LPM has the following attributes: P% 12.0 (LP 21.8%): casein/whey proteins ratio: 40 to 50/60 to 50 (LP 80/20); more digestible fats; essential fatty acids: > or = 4% of total calories; vitamins and minerals which cover 100% daily requirements for 0 to 6 months old infants; protein and energy can be modulated between 1.5 and 2.25 g/100 ml and 50-75 kcal/100 ml respectively. Forty tons of LPM were produced in accordance with our specifications for a field study. Quality controls on the product showed the production feasibility of such a formula at a lower price than LP. To determine shelf life, periodical analysis of peroxides, available lysine, ascorbic acid and linoleic acid were carried out in LPM stored for 1 year at 20 degrees C and 37 degrees C. It was found that LPM has an optimum shelf life of 7 months when packed in the same material that is now being in use for LP.(ABSTRACT TRUNCATED AT 250 WORDS)

Study of the evolution of masked bifascicular block.

Masked bifascicular block (MBB) (absent or minimal S in I and VL, high R in Vi and AQRS approximately -60 degrees) is a rare condition. We have found 16 such cases in the last 12 years, thirteen male and three female, mean age 70 +/- 9 years. The conventional electrocardiogram was tabulated and the clinical features and evolution of the patients were followed over 39.1 +/- 32 months. Ten patients required pacemakers, nine because of complete atrioventricular (AV) block or increase in the previous AV block. Seven patients died (follow-up 27.3 +/- 32 months), five from heart failure. This study shows: (1) MBB is a subgroup of patients with a high risk of advanced atrioventricular block; (2) a pacemaker implant does not significantly reduce the high mortality in this group because of the severity of the underlying disease; (3) these results should be evaluated in a larger series of patients in order to confirm our provisional results.

Holter ECG study of the electrocardiographic phenomena in Prinzmetal angina attacks with emphasis on the study of ventricular arrhythmias.

The ECG phenomena in 20 outpatients (121 episodes) suffering from variant angina with transient ST segment elevation greater than 1.5 mm. (Prinzmetal angina) were studied by Holter monitoring. The most important changes in the ECG morphology were: a) increased height of the R wave in all cases, b) the S wave decreased or disappeared, c) the ST segment elevation varied from 1.5 to 38 mm, d) the TQ interval was ascending in 78 episodes, e) there was a double alternance of ST-TQ in 20 episodes and f) the first modification of the ECG was an increase of the T wave height. Arrhythmias were seen in 19 patients (44 episodes). The most frequent were premature ventricular contractions. The prevalence and importance of the ventricular arrhythmias were statistically related to the duration of the episodes (p less than 0.005), the degree of the ST segment elevation (p less than 0.005), the presence of ST-TQ alternance (p less than 0.005) and the presence of increased R wave greater than 25% (p less than 0.025).

Regulation of intracisternal A particles in mouse teratocarcinoma cells: involvement of DNA methylation in transcriptional control.

The methylation state of Intracisternal A Particle (IAP) genes in mouse teratocarcinoma cell lines has been investigated as an approach to study the regulation of the expression of these particles. Treatment of the cells with the methylation inhibitor 5-azacytidine induces the production of the particles in all the cells; the induction is particularly striking in an embryonal carcinoma cell line which is normally devoid of IAPs. The induction is accompanied by decrease in DNA methylation as demonstrated by using the methylation sensitive isoschizomer enzymes MspI and HpaII. Hypomethylation of the IAP genes correlates with accumulation of IAP, specific polyadenylated RNA reinforcing the hypothesis that methylation plays an important role in the control of IAP expression.