Chromatographic methods coupled to mass spectrometry for the determination of oncometabolites in biological samples-A review.

It is now well-established that dysregulation of the tricarboxylic acid (TCA) cycle enzymes succinate dehydrogenase, fumarate hydratase, and isocitrate dehydrogenase leads to the abnormal cellular accumulation of succinate, fumarate, and 2-hydroxyglutarate, respectively, which contribute to the formation and malignant progression of numerous types of cancers. Thus, these metabolites, called oncometabolites, could potentially be useful as tumour-specific biomarkers and as therapeutic targets. For this reason, the development of analytical methodologies for the accurate identification and determination of their levels in biological matrices is an important task in the field of cancer research. Currently, hyphenated gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-mass spectrometry (LC-MS) techniques are the most powerful analytical tools in what concerns high sensitivity and selectivity to achieve such difficult task. In this review, we first provide a brief description of the biological formation of oncometabolites and their oncogenic properties, and then we present an overview and critical assessment of the GC-MS and LC-MS based analytical approaches that are reported in the literature for the determination of oncometabolites in biological samples, such as biofluids, cells, and tissues. Advantages and drawbacks of these approaches will be comparatively discussed. We believe that the present review represents the first attempt to summarize the applications of these hyphenated techniques in the context of oncometabolite analysis, which may be useful to new and existing researchers in this field.

Estudio de carcinomas agresivos a través de metástasis orbitarias / Study of aggressive carcinomas through orbital metástasis

Se presentan dos casos clínicos de metástasis orbitaria. El primero es el de un varón de 63 años con pérdida de agudeza visual reciente asociada a diplopía binocular. Las pruebas de neuroimagen revelan una tumoración de características agresivas con extensión intraconal e invasión ósea. El estudio sistémico nos lleva al diagnóstico de carcinoma broncogénico microcítico en estadio IV. El segundo caso corresponde a una mujer de 69 años con cáncer de mama en estadios precoces que presenta alteraciones de motilidad ocular y proptosis. Mediante tomografía computarizada se evidencia infiltración tumoral de musculatura extraocular. El estudio anatomopatológico confirma el diagnóstico de metástasis orbitaria. La enfermedad metastásica orbitaria es una entidad relativamente infrecuente, con presentación clínica variada y pronóstico desfavorable. Constituye un reto diagnóstico que se debe sospechar en pacientes con factores de riesgo para enfermedad tumoral y recurrir a las técnicas de imagen para definir la extensión y severidad del cuadro

Two clinical cases of orbital metastasis are presented. The first is a 63 year-old male with a recent loss of visual acuity associated with binocular diplopia. Neuroimaging tests revealed a tumour of aggressive features with intraconal extension and bone invasion. The systemic study led to the diagnosis of stage IV small cell bronchogenic carcinoma. The second case is a 69 year-old woman with breast cancer in early stages that showed alterations in ocular motility and proptosis. Computed tomography showed tumour infiltration of extraocular musculature. The anatomo-pathological study confirmed the diagnosis of orbital metastasis. Orbital metastatic disease is a relatively infrequent entity with varied clinical presentation and an unfavourable prognosis. It constitutes a diagnostic challenge that should be suspected in patients with risk factors for tumour disease and imaging techniques used to define the extent and severity of the condition

Study of aggressive carcinomas through orbital metastasis. / Estudio de carcinomas agresivos a través de metástasis orbitarias.

Two clinical cases of orbital metastasis are presented. The first is a 63 year-old male with a recent loss of visual acuity associated with binocular diplopia. Neuroimaging tests revealed a tumour of aggressive features with intraconal extension and bone invasion. The systemic study led to the diagnosis of stage IV small cell bronchogenic carcinoma. The second case is a 69 year-old woman with breast cancer in early stages that showed alterations in ocular motility and proptosis. Computed tomography showed tumour infiltration of extraocular musculature. The anatomo-pathological study confirmed the diagnosis of orbital metastasis. Orbital metastatic disease is a relatively infrequent entity with varied clinical presentation and an unfavourable prognosis. It constitutes a diagnostic challenge that should be suspected in patients with risk factors for tumour disease and imaging techniques used to define the extent and severity of the condition.

Modificaciones en las proyecciones córtico-motoneuronales que van a la mano en pacientes que reciben rehabilitación intensiva / Modifications in the cortico-motoneuronal projections going to the hand in patients who receive intensive rehabilitation

Introducción. La enfermedad cerebrovascular es una de las principales causas de déficit motor. El presente trabajo evalúa el efecto de la rehabilitación intensiva sobre la reorganización de las proyecciones córtico-motoneuronales a la mano en pacientes con infartos cerebrales del territorio de la arteria cerebral media. Material y método. Se realizó un estudio de cohortes, seleccionando un grupo de 20 pacientes hospitalizados (grupo 1: G1) para recibir tratamiento de rehabilitación intensivo, y otro grupo de 10 pacientes ambulatorios (grupo 2: G2) no tratados en rehabilitación. Todos cumplían los siguientes criterios de inclusión: evolución post-infarto >= 6 meses; puntuación en el índice de Barthel >= 75, y >= 2 en el Medical Research Council de la mano afectada. Se excluyeron aquellos con más de un infarto cerebral, o que portaran dispositivos electromagnéticos. Se realizó la evaluación clínica y electrofisiológica, con un mapeo motor con estimulación magnética transcraneal, analizando el área de respuestas y su localización, antes y después de recibir el tratamiento de 28 días de duración. Se realizaron pruebas de hipótesis para muestras independientes (U de Mann-Whitney) y dependientes (Wilcoxon), alfa = 0,05. Resultados. No se identificaron diferencias significativas entre grupos en las variables analizadas inicialmente (Mann-Whitney U; p > 0,05). En todos los pacientes se obtuvieron respuestas contralaterales al estimular el hemisferio afectado. Los resultados de la segunda evaluación evidenciaron diferencias entre grupos (p < 0,05), con incremento en la puntuación de las escalas clínicas en el G1 con respecto a los valores iniciales (Wilcoxon; Barthel, Z = 3,4793, p = 0,000; MRC; Z = 3,8230, p = 0,00) y en el área de respuestas motoras en ambos hemisferios (Z = 3,9199, p = 0,00). Conclusiones. La rehabilitación intensiva indujo modificaciones en las proyecciones córtico-motoneuronales a la mano en pacientes con infartos cerebrales

Introduction. Cerebrovascular disease is one of the main causes of motor deficits. We evaluated the effect of an intensive rehabilitation program over the reorganization of cortico-motoneuronal projections to the affected hand in patients after stroke from the mean cerebral artery territory. Material and methods. We carried out a cohort study, selecting a group of 20 hospitalized patients (group 1:G1) who were admitted to receive intensive rehabilitation treatment and another group of 10 ambulatory patients (group 2: G2) was selected as control group, they were not receiving at this moment any physical rehabilitation treatment. All the patients fulfilled the following criteria: >= 6 months post-stroke, >= 75 points in the Barthel index, and >= 2 in Medical Research Council in the affected hand. We excluded patients with >= 2 strokes, or who were carriers of electromagnetic devices. Both groups were evaluated before and after 28 days of treatment (only G1); applying the same clinical scales and electrophysiologically with motor mapping using transcranial magnetic stimulation, defining map area and location. Test for dependent (Wilcoxon) and for independent samples (Mann-Whitney U) were performed, with alpha = 0.05. Results. Before treatment both groups were clinically and electrophysiologically similar without any significant statistical difference (Mann Whitney U; p < 0,05). Contralateral responses were obtained in all patients after stimulating the affected hemisphere. Significant differences between groups were demonstrated after treatment; higher values in clinical scales were observed in G1 in comparison to initial values (Wilcoxon: Barthel index, Z = 3.4793, p = 0.000; MRC: Z = 3.8230, p = 0.000) and in the motor map area of both hemispheres (Wilcoxon: Z = 3.9199, p = 0.00). Conclusion. Intensive rehabilitation induced changes in cortico-motoneuronal projections to the hand in patients with stroke

[A clinical and epidemiological description of a series of patients diagnosed as suffering from progressive supranuclear palsy]. / Descripción clínica y epidemiológica de una serie de pacientes con diagnóstico de parálisis supranuclear progresiva.

INTRODUCTION: Progressive supranuclear palsy is a disease that normally presents only sporadically in adults and courses in a progressive, chronic manner. It is characterised by the presence of supranuclear ophthalmoplegia, postural instability, a Parkinsonian syndrome, pseudobulbar affect, cervical dystonia and cognitive impairment. PATIENTS AND METHODS: We conducted a descriptive study of clinical and epidemiological features in a series of 18 patients who satisfied the mandatory NINDS-SPSP clinical eligibility criteria for the likely diagnosis of progressive supranuclear palsy, using the scale developed by Golbe et al. RESULTS AND CONCLUSIONS: The mean age of onset of the disease was 58.6 +/- 8.2 years, 55.5% of the patients were males, the average history of the disease at the time of diagnosis was 4.39 +/- 2.3 years, and there was a diagnostic subregister in the first 4 years of the disease. Gait disorders, falls and slowness were the most frequently observed presenting forms of the disease. During their first four years with the disease, 75% of the patients were totally independent when it came to carrying out activities of daily living, whereas after the fourth year there was a predominance of the need for aid and absolute dependence. Dysphagia was more frequent in the later stages of the disease. Ocular motility disorders and impaired cognitive functioning were obvious in the initial stages of the disease, and there was a strong correlation between the length of time the disease had been coursing and the severity of the ocular and cognitive disorders.

Descripción clínica y epidemiológica de una serie de pacientes con diagnóstico de parálisis supranuclear progresiva / A clinical and epidemiological description of a series of patients diagnosed as suffering from progressive supranuclear palsy

Introducción. La parálisis supranuclear progresiva es una enfermedad de curso crónico progresivo, de presentación fundamentalmente esporádica en el adulto, que se caracteriza por la presencia de oftalmoplejía supranuclear, inestabilidad postural, síndrome parkinsoniano, afectación seudobulbar, distonía cervical y deterioro cognitivo. Pacientes y métodos. Realizamos un estudio descriptivo sobre aspectos clínicos y epidemiológicos en una serie de 18 pacientes que cumplían los criterios clínicos mandatarios de inclusión (NINDS-SPSP) para el diagnóstico probable de parálisis supranuclear progresiva, utilizando la escala de Golbe et al. Resultados y conclusiones. La edad de inicio promedio de la enfermedad fue de 58,6 ñ 8,2 años, el 55,5 por ciento de los pacientes pertenecen son varones, el tiempo medio de evolución de la enfermedad hasta el momento del diagnóstico fue de 4,39 ñ 2,3 años, y existía un subregistro diagnóstico en los primeros cuatro años de la enfermedad. Los trastornos de la marcha, las caídas y la lentitud constituyeron las formas más frecuente de debut de la enfermedad. El 75 por ciento de los pacientes en los primeros cuatro años de evolución era totalmente independiente para realizar las actividades de la vida cotidiana, mientras que después de los cuatro años predominaba la necesidad de asistencia y la dependencia absoluta. La disfagia fue más frecuente en etapas tardías de la enfermedad. La afectación de la motilidad ocular y la función cognitiva fue evidente en las etapas iniciales de la enfermedad, y existió una alta correlación entre el tiempo de evolución de la enfermedad y la gravedad de la afectación ocular y cognitiva (AU)

y. Introduction. Progressive supranuclear palsy is a disease that normally presents only sporadically in adults and courses in a progressive, chronic manner. It is characterised by the presence of supranuclear ophthalmoplegia, postural instability, a Parkinsonian syndrome, pseudobulbar affect, cervical dystonia and cognitive impairment. Patients and methods. We conducted a descriptive study of clinical and epidemiological features in a series of 18 patients who satisfied the mandatory NINDS-SPSP clinical eligibility criteria for the likely diagnosis of progressive supranuclear palsy, using the scale developed by Golbe et al. Results and conclusions. The mean age of onset of the disease was 58.6 ± 8.2 years, 55.5% of the patients were males, the average history of the disease at the time of diagnosis was 4.39 ± 2.3 years, and there was a diagnostic subregister in the first 4 years of the disease. Gait disorders, falls and slowness were the most frequently observed presenting forms of the disease. During their first four years with the disease, 75% of the patients were totally independent when it came to carrying out activities of daily living, whereas after the fourth year there was a predominance of the need for aid and absolute dependence. Dysphagia was more frequent in the later stages of the disease. Ocular motility disorders and impaired cognitive functioning were obvious in the initial stages of the disease, and there was a strong correlation between the length of time the disease had been coursing and the severity of the ocular and cognitive disorders (AU)

[Evaluation of the clinical manifestations in patients with reactions to the rabies vaccine or serum in the Ciego de Avila province (Cuba)]. / Evaluación de las manifestaciones clínicas en pacientes con reacciones a la vacuna o suero antirrábico en la provincia de Ciego de Avila (Cuba).

The present design is a descriptive study in which people bitten by animals, rabies treatment used and the reactions to it are described. The frequency of adverse effects to the vaccine and to the serum are pointed out. The forms of clinical presentation and the clinical symptoms of the reactions observed in the Ciego de Avila province, Cuba, in the period from 1981 to 2001, were evaluated. In this period prevailed the reactions to the heterologous serum and the reactions caused by the human rabies vaccine. Local reactions to the vaccine were more common than the systemic ones. Four neuroparalytic reactions produced by the vaccines were observed. The most frequent symptoms and signs of the patients with reaction to the vaccine were pruritus, rash, localized urticaria, papule in the point of injection and local pain. The clinical manifestations considered as reactions to the heterologous serum that prevailed in the patients were rash in gluteal regions, pruritus, local erythyema and fever. No patient was detected with neurological manifestations caused by the heterologous serum.

Evaluación de las manifestaciones clínicas en pacientes con reacciones a la vacuna o suero antirrábico en la provincia de Ciego de Ávila (Cuba) / Evaluation of the clinical manifestations in patients with reactions to the rabies vaccine or serum in the Ciego de Ávila province

El presente diseño es un estudio descriptivo en el que se describen las personas mordidas por animales, los tratamientos antirrábicos aplicados y las reacciones. Se señalan las frecuencias de eventos a la vacuna y al suero. Se evaluaron las formas de presentación y el cuadro clínico de las reacciones ocurridas en la provincia Ciego de Ávila (Cuba) en el período de 1981 a 2001. En esa etapa predominaron las reacciones al suero heterólogo sobre las producidas por la vacuna antirrábica humana. Las reacciones locales a la vacuna fueron más frecuentes que las sistémicas. Se presentaron 4 reacciones neuroparalíticas producidas por las vacunas. Los síntomas y signos más frecuentes de los pacientes con reacción a la vacuna fueron prurito, rash urticariano localizado, pápula en el punto de inyección y dolor local. Las manifestaciones clínicas que predominaron en los pacientes concluidos como reacciones al suero heterólogo fueron rash en glúteos, prurito, eritema local y fiebre. No se detectó ningún paciente con manifestaciones neurológicas producidas por el suero heterólogo (AU)

Degeneración corticobasal. Descripción de un caso con sanguíneo / Corticobasal degeneration. Description of a consanguineous case

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Dos casos de actinomicosis: un micetoma podal y otro genital en la provincia de Ciego de Avila, Cuba

Se describen 2 casos de actinomicosis, uno podal y otro genital. El primero correspondió a una lesión en la planta del pie derecho de un paicente de 33 años de edad, con buena evolución clínica después de un tratamiento con ciprofloxacino y sin recidivas después de 2 años de observación. El segundo se registró en una paciente de 27 años de edad, que concurrió al servicio de ginecología dels hospital provincial Dr. Antonio Luaces Iraola de la provincia Ciego de Avila, Cuba. La pacientes después de noventa días de inicio del cuadro clínico, presenta un aumento de volumen en el abdomeninferior. Al ingreso se detectó palidez cutánea, pérdida de peso, tos no productiva y palpación de una masa tumoral. Se realizó ultrasonido abdominal y laparoscopía, observándose una masa sólida de gran tamaño de aproximadamente 10 cm. Se realizó investigación quirúrgica detectándose un gran plastrón que abarcaba útero, ambos anexos con asas intestinales y epiplón. Se confirmó actinmicosis genital por biopsia en anatomía patológica. La paciente falleció a los 7 días del postoperatorio por insuficiencia renal. (AU)

Factores de riesgo de la escabiosis en la provincia Ciego de Ávila / Scabies risk factors in the Ciego de Avila province

Se realizó una investigación de casos y controles sobre escabiosis en la provincia Ciego de Ávila, Cuba.El universo de estudio fueron 50 enfermos (casos) y 100 controles, se consideró caso al que tuviera un cuadro clínico compatible donde se planteara el diagnóstico inicial por un médico de la atención primaria y se ratificara el diagnóstico por un dermatólogo. A ambos grupos se les aplicó un cuestionario, el cual había sido validado anteriormente.Se calcularon razones de ventaja (OR) y sus intervalos de confianza. Como factores de riesgo se encontró: compartir la cama tres o más personas, presencia de dos o menos habitaciones en la vivienda, la escolaridad de los padres, el cambio de sábanas cada quince días o más, el cambio de la toalla con igual frecuencia y el intercambio de toallas dentro del núcleo familiar.En el presente estudio se detectaron factores de riesgo higiénicos y socio-económicos (AU)

High flow priapism after blunt perineal trauma: resolution with bucrylate embolization.

We report on 2 patients (ages 21 and 33 years) with high flow priapism secondary to arteriocavernous fistula produced by perineal injury. Both cases were satisfactorily resolved by super-selective embolization of the fistula with bucrylate. Diagnosis was based on the results of gasometry in cavernous blood, color Doppler ultrasound and arteriography. Erectile function after 24 and 30 months of treatment, respectively, was normal in both patients. Review of the literature revealed that only 13 patients have been managed with arterial embolization. To our knowledge our report represents the first in which intracavernous bucrylate embolization produced detumescence with preservation of erectile function.

[Prospective study of the effectiveness and side effects of intracavernous prostaglandin E1 versus papaverine or papaverine phentolamine in the diagnosis and treatment of erection dysfunction. Review of the literature]. / Estudio prospectivo de eficacia y efectos secundarios de la prostaglandina E1 versus papaverina o papaverina fentolamina intracavernosa en el diagnóstico y tratamiento de la disfunción eréctil. Revisión de la literatura.

E1 prostaglandins (E1-PG) by intracavernous injection has been given for diagnostic purposes to 70 randomly selected patients visiting the practice with erectile dysfunction (ED). Sixty-one were suggested to begin a weekly intracavernous self-injection (WICSI) according to the established protocol. Fifty-one patients (83.6%) started the therapy and within an 18-months follow-up interval only 2 (3.27%) preferred to return to papaverine, since 20 patients had previously undergone the papaverine test and 6 were on WICSI with this preparation. Fifty-three patients (75%) achieved complete erection, 8 (11.4%) enough erection to penetrate without manual help, representing a total efficacy of 87%. E1-PG dosage varied from 10 to 40 mcg based on diagnosis, and was readjusted in 6 of the 9 patients which in the initial tests had not obtained sufficient erection, therefore bringing about a final 91.4% erections of sufficient characteristics for intercourse to be considered normal. During the year and a half follow-up a total of 2,880 E1-PG self-injections were injected without during this time cases of priapism, systemic reactions, cavernous bodies infections, arteriovenous fistulae, fibrosis of the cavernous bodies, etc, being observed. Two patients showed prolonged erections of 3-5 hours during the E1-PG tests which remitted spontaneously without sequelae and now continue the WICSI programme after dosage readjustment. In our experience, E1-PG intracavernous injection has proven to be more effective than papaverine in the treatment of erectile dysfunction and therefore, added to its safety and degree of acceptance, we consider it a first choice approach in the diagnosis and treatment of erectile dysfunction in males.

[Giant urethral lithiasis]. / Litiasis uretral gigante.

We present a case of giant urethral lithiasis, housed in the penile urethra. Owing to the scant incidence of this pathology and its rarity, as well as the small number of bibliographic references found, we believe it of interest to offer this fresh case.