Testing an Adapted Auditory Verbal Learning Test Paradigm for fMRI to Lateralize Verbal Memory in Patients with Epilepsy.

BACKGROUND AND PURPOSE: fMRI is a noninvasive tool for predicting postsurgical deficits in candidates with pharmacoresistant temporal lobe epilepsy. We aimed to test an adapted paradigm of the Rey Auditory Verbal Learning Test to evaluate differences in memory laterality indexes between patients and healthy controls and its association with neuropsychological scores. MATERIALS AND METHODS: We performed a prospective study of 50 patients with temporal lobe epilepsy and 22 healthy controls. Participants underwent a block design language and memory fMRI. Laterality indexes and the hippocampal anterior-posterior index were calculated. Language and memory lateralization was organized into typical and atypical on the basis of laterality indexes. A neuropsychological assessment was performed with a median time from fMRI of 8 months and was compared with fMRI performance. RESULTS: We studied 40 patients with left temporal lobe epilepsy and 10 with right temporal lobe epilepsy. Typical language occurred in 65.3% of patients and 90.9% of healthy controls (P = .04). The memory fMRI laterality index was obtained in all healthy controls and 92% of patients. The verbal memory laterality index was bilateral (24.3%) more frequently than the language laterality index (7.69%) in patients with left temporal lobe epilepsy. Atypical verbal memory was greater in patients with left temporal lobe epilepsy (56.8%) than in healthy controls (36.4%), and the proportion of bilateral laterality indexes (53.3%) was larger than right laterality indexes (46.7%). Atypical verbal memory might be associated with higher cognitive scores in patients. No relevant differences were seen in the hippocampal anterior-posterior index according to memory impairment. CONCLUSIONS: The adapted Rey Auditory Verbal Learning Test paradigm fMRI might support verbal memory lateralization. Temporal lobe epilepsy laterality influences hippocampal memory laterality indexes. Left temporal lobe epilepsy has shown a higher proportion of atypical verbal memory compared with language, potentially to memory functional reorganization.

Endoscopic endonasal surgery to treat intrinsic brainstem lesions: correlation between anatomy and surgery.

OBJECTIVE: The endoscopic endonasal approach (EEA) has been proposed as an alternative in the surgical removal of ventral brainstem lesions. However, the feasibility and limitations of this approach to treat such pathologies are still poorly understood. This study aimed to report our experience in five consecutive cases of intrinsic brainstem lesions that were managed via an EEA, as well as the specific anatomy of each case. METHODS: All patients were treated in a single center by a multidisciplinary surgical team between 2015 and 2019. Before surgery, a dedicated anatomical analysis of the brainstem safe entry zone was performed, and proper surgical planning was carried out. Neurophysiological monitoring was used in all cases. Anatomical dissections were performed in three human cadaveric heads using 0° and 30° endoscopes, and specific 3D reconstructions were executed using Amira 3D software. RESULTS: All lesions were located at the level of the ventral brainstem. Specifically, one mesencephalic cavernoma, two pontine ca- vernomas, one pontine gliomas, and one medullary diffuse midline glioma were reported. Cerebrospinal fluid leak was the major complication that occurred in one case (medullary diffuse midline glioma). From an anatomical standpoint, three main safe entry zones were used, namely the anterior mesencephalic zone (AMZ), the peritrigeminal zone (PTZ, used in two cases), and the olivar zone (OZ). Reviewing the literature, 17 cases of various brainstem lesions treated using an EEA were found. CONCLUSIONS: To our knowledge, this was the first preliminary clinical series of intrinsic brainstem lesions treated via an EEA presented in the literature. The EEA can be considered a valid surgical alternative to traditional transcranial approaches to treat selected intra-axial brainstem lesions located at the level of the ventral brainstem. To achieve good results, surgery must involve comprehensive anatomical knowledge, meticulous preoperative surgical planning, and intraoperative neurophysiological moni- toring.

Low-dose-rate brachytherapy for prostate cancer in renal transplant recipients.

PURPOSE: Prostate cancer (PCa) is the most common malignancy among men and one of the most common neoplasms affecting renal transplant recipients (RTRs). The available treatments for localized PCa among the general population (GP), surgery and external beam radiotherapy, carry a risk of damage to the transplanted kidney, the ureters, and the bladder and therefore tend to be avoided by most groups. The objective of this study was to assess the efficacy and feasibility of low-dose-rate brachytherapy (LDR-BT) for PCa in RTRs. METHODS AND MATERIALS: We carried out a retrospective review on all RTRs diagnosed of PCa who had undergone LDR-BT at our institution between 2000 and 2015. Nine patients met these criteria, but 1 did not fulfill the followup. Hence, we analyzed 8 patients. We reviewed all clinical data for PCa and graft function in these patients and compared the results with the GP. RESULTS: Mean baseline prostate-specific antigen was 6.8 ± 1.9 ng/mL. All PCa had a Gleason score of 6 and were classified as low risk according the Europe Association of Urology guidelines. Mean followup after seed implantation was 48 ± 12.8 months. All 8 patients remain free of prostate-specific antigen failure. Five-year progression-free survival, cancer-specific survival, and overall survival rates were 100%, 100%, and 62.5%. There was no specific toxicity associated with LDR-BT, and there were no acute adverse events affecting the graft. CONCLUSIONS: LDR-BT is a feasible and acceptable treatment for localized PCa in RTRs. Oncological outcomes are similar to the GP, and there is minimal toxicity to the renal graft.

[Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge]. / Hidrocefalia por hiperplasia de plexos coroideos en un paciente con mosaicismo de trisomia 9. Un verdadero reto diagnostico y terapeutico.

INTRODUCTION: Trisomy 9 is an unusual chromosome abnormality in live-born patients, which is frequently accompanied by functional and structural anomalies of the central nervous system. Among many other alterations, several studies have been published in the English-speaking literature that show an association between chromosome 9 abnormality and pathologies affecting the choroid plexuses. CASE REPORT: We report the case of a 4-month-old male with trisomy 9 mosaicism associated to hydrocephalus secondary to choroid plexus hyperplasia, who was referred due to a clinical picture of intracranial hypertension. The cerebrospinal fluid (CSF) drainage procedure that was initially chosen caused massive ascites due to an excessive production of CSF, and led to a cascade of multiple surgical interventions, which included endoscopic and drainage procedures. CONCLUSIONS: This is another example of an association between choroid plexus pathologies and chromosome 9 abnormality. Due to its scarce incidence, diagnosis of hydrocephalus secondary to plexus hyperplasia is difficult, as is selecting its most suitable treatment. In this type of hydrocephalus there is a double pathophysiological mechanism, which involves an increase in CSF production and a decrease in its reabsorption. Despite taking these considerations into account, the treatment of hydrocephalus secondary to plexus hyperplasia is a real challenge that usually leads to multiple surgical interventions ranging from plexectomy or coagulation of the choroid plexuses to the implantation of CSF drainage devices.

TITLE: Hidrocefalia por hiperplasia de plexos coroideos en un paciente con mosaicismo de trisomia 9. Un verdadero reto diagnostico y terapeutico.Introduccion. La trisomia 9 es una cromosomopatia inusual en pacientes nacidos vivos, que frecuentemente se acompaña de anomalias funcionales y estructurales del sistema nervioso central. Entre otras muchas alteraciones, varios trabajos en la bibliografia anglosajona demuestran una asociacion entre cromosomopatia 9 y patologia de los plexos coroideos. Caso clinico. Varon de 4 meses de vida con mosaicismo de trisomia 9 asociado a hidrocefalia secundaria a hiperplasia de los plexos coroideos, que fue remitido por clinica de hipertension intracraneal. El procedimiento derivativo de liquido cefalorraquideo por el que optamos inicialmente provoco una ascitis masiva debida a la produccion desmesurada de liquido cefalorraquideo, y desemboco en una cascada de multiples intervenciones quirurgicas, entre las que se incluyeron procedimientos endoscopicos y derivativos. Conclusiones. Se trata de un ejemplo mas de asociacion entre patologia de los plexos coroideos y cromosomopatia 9. Debido a su escasa incidencia, es dificil establecer el diagnostico de hidrocefalia secundaria a hiperplasia de los plexos y, por tanto, el tratamiento mas adecuado. En este tipo de hidrocefalia existe un doble mecanismo fisiopatologico, que implica un aumento de produccion de liquido cefalorraquideo y una disminucion de su reabsorcion. A pesar de tener en cuenta dicha consideracion, el tratamiento de la hidrocefalia secundaria a hiperplasia de los plexos supone un verdadero reto que habitualmente pasa por multiples procedimientos quirurgicos, desde la plexectomia o coagulacion de los plexos coroideos hasta la implantacion de dispositivos de derivacion de liquido cefalorraquideo.

Association between single-nucleotide polymorphisms in DNA double-strand break repair genes and prostate cancer aggressiveness in the Spanish population.

BACKGROUND: Novel predictors of prognosis and treatment response for prostate cancer (PCa) are required to better individualize treatment. Single-nucleotide polymorphisms (SNPs) in four genes directly (XRCC5 (X-ray repair complementing defective repair in Chinese hamster cells 5) and XRCC6 (X-ray repair complementing defective repair in Chinese hamster cells 6)) or indirectly (PARP1 and major vault protein (MVP)) involved in non-homologous end joining were examined in 494 Spanish PCa patients. METHODS: A total of 22 SNPs were genotyped in a Biotrove OpenArray NT Cycler. Clinical tumor stage, diagnostic PSA serum levels and Gleason score at diagnosis were obtained for all participants. Genotypic and allelic frequencies were determined using the web-based environment SNPator. RESULTS: (XRCC6) rs2267437 appeared as a risk factor for developing more aggressive PCa tumors. Those patients carrying the GG genotype were at higher risk of developing bigger tumors (odds ratio (OR)=2.04, 95% confidence interval (CI) 1.26-3.29, P=0.004), present higher diagnostic PSA levels (OR=2.12, 95% CI 1.19-3.78, P=0.011), higher Gleason score (OR=1.65, 95% CI 1.01-2.68, P=0.044) and D'Amico higher risk tumors (OR=2.38, 95% CI 1.24-4.58, P=0.009) than those patients carrying the CC/CG genotypes. Those patients carrying the (MVP) rs3815824 TT genotype were at higher risk of presenting higher diagnostic PSA levels (OR=4.74, 95% CI 1.40-16.07, P=0.013) than those patients carrying the CC genotype. When both SNPs were analyzed in combination, those patients carrying the risk genotypes were at higher risk of developing D'Amico higher risk tumors (OR=3.33, 95% CI 1.56-7.17, P=0.002). CONCLUSIONS: We believe that for the first time, genetic variants at XRCC6 and MVP genes are associated with risk of more aggressive disease, and would be taken into account when assessing the malignancy of PCa.

Brote de sarampión en 2011. Análisis de casos identificados en urgencias en un hospital de Madrid / Measles outbreak in 2011. An analysis of cases identified at an emergency department in a Spanish hospital (Madrid)

Introducción: El sarampión es una infección altamente contagiosa y con una elevada morbilidad, para la que se dispone de una vacuna eficaz y segura y cuya erradicación es posible. Sin embargo, desde 2009 se han registrado brotes en Europa, con un aumento de casos en 2011 en España. Material y métodos: Estudio retrospectivo de pacientes diagnosticados por sospecha de sarampión en el servicio de urgencias de un hospital terciario, en el periodo comprendido entre enero y diciembre de 2011. Resultados: Se diagnosticaron 67 pacientes por sospecha de sarampión. El 76% de los casos sospechosos presentaban clínica típica de tos, coriza y exantema, y se refería contacto en el 50% de los casos, principalmente familiar. La infección se confirmó en 25 pacientes mediante serología o reacción en cadena de la polimerasa de exudado nasofaríngeo. Otros 25 pacientes fueron compatibles por clínica o vínculo epidemiológico. El 91% de los casos confirmados o compatibles no estaban vacunados. Ingresaron el 12% del total de pacientes por sospecha de sarampión. Se diagnosticó neumonía en 2 pacientes. Conclusiones: Este estudio demuestra una incidencia elevada de sarampión en un área sanitaria, lo que confirma la existencia de población susceptible por fallo en la cobertura vacunal. Para alcanzar el objetivo de la Organización Mundial de la Salud de erradicar el sarampión en el año 2015 en Europa, es preciso la comunicación y la investigación temprana de las sospechas. Los profesionales sanitarios deben estar informados de la situación del sarampión, al tratarse de una infección poco frecuente en la práctica clínica habitual (AU)

Introduction: Measles is a highly contagious infectious dis­ease, associated with an important morbidity and mortality. An effective and safe vaccine is available and its eradication is possible. However, since 2009 measles outbreaks are occur­ring in Europe, with an important number of cases in Spain. Methods: Retrospective study conducted in an emergency department of a tertiary hospital. We included pediatric patients diagnosed of possible measles during the period January-December of 2011. Results: We diagnosed 67 suspected measles cases, the 76% of which had typical symptoms like coryza, cough or exanthema. There had been contact with confirmed measles cases in 50% of suspected cases, mainly familiar. The diagnostic was confirmed by laboratory tests in 25 patients, like serology or PCR of nasopharyngeal secretions. Another 25 patients were compatible with measles by clinic or epidemiological vinculum. 90% of confirmed cases took place in unvaccinated patients.12% of possible measles cases were admitted to hospital. Pneumonia was diagnosed in 2 patients. Conclusions: Our study shows an elevated incidence of measles in a sanitary area and confirms the existence of susceptible population due to a fail in vaccine coverage. To reach the objective of WHO of eradicating measles in 2015 in the European region, an early communication and investigation of suspected cases of measles is necessary. Sanitary professionals must be informed of the existence of an outbreak, because it is an infrequent infection in the daily clinical practice (AU)

Empleo de probióticos y prebióticos en los trastornos digestivos funcionales / No disponible

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Neumonía fatal en una niña inmunocompetente, asociada a herpes simple tipo 1 / Fatal pneumonia associated to herpes simplex 1, in an immunocompetent girl

Most reported cases of lower respiratory tract infection due to herpes simplex virus type-1 (HSV-1) occurs in immunocompromised patients, however there are few cases of viral infection in inmunocompentes critically ill patients (1-3). Objective: Report the case of fatal VHS-1 pneumonia in an immunocompetent patient. Case: A ten year old girl, immunocompetent, who presents respiratory symptoms and progresses rapidly to severe hypoxemia, instability and death. Lung biopsy reported Cowdry type A inclusions and the polimerasa chain reaction (PCR) was positive for HSV-1. We discuss the clinical features, diagnosis, treatment and prognosis in critically ill immunocompetent patients with HSV-1 infection in lower respiratory tract.

La mayoría de los casos reportados de infección por el virus herpes simplex tipo-1 (VHS-1) en el tracto respiratorio inferior ocurren en pacientes inmunosuprimidos; sin embargo, se han reportado casos de aislamiento del virus en pacientes inmunocompentes en estado crítico. Objetivo: Reportar el caso de neumonía grave y fatal por VHS-1 en un paciente inmunocompetente. Caso Clínico: Paciente de 10 años, sexo femenino, inmu-nocompetente, que inicia síntomas respiratorios y progresa rápidamente a hipoxemia severa, inestabilidad y muerte. La biopsia pulmonar reportó inclusiones de Cowdry tipo A y una reacción en cadena de la polimerasa (PCR) positiva para VHS-1. Discusión: Se comenta el cuadro clínico, diagnóstico, tratamiento y pronóstico en pacientes inmunocompetentes críticamente enfermos con infección por VHS-1 en el tracto respiratorio inferior.

Actualización del osteosarcoma para el médico de familia / Update on Osteosarcoma for the family doctor

Los tumores malignos óseos son poco frecuentes, ya que no superan el 0,2-0,5% de todos los cánceres. Su importancia radica en que afectan a pacientes jóvenes en la segunda década de la vida, implican mal pronóstico en su evolución natural y suelen requerir tratamientos radicales, muy agresivos y sofisticados. Sin embargo, en los últimos años se ha producido un enorme progreso en el conocimiento de su biología, historia natural y métodos diagnósticos que, junto con los tratamientos, están suponiendo mayores posibilidades de curación. Con este trabajo pretendemos ampliar conocimientos sobre la historia natural y el desarrollo de la enfermedad, las técnicas diagnósticas, los diferentes tipos de tratamientos utilizados, con especial interés en la indicación según la localización y estadiaje y la evolución del osteosarcoma, relacionando los criterios pronósticos con el tratamiento aplicado. Entendemos que desde la consulta de Atención Primaria se puede contribuir a un correcto manejo de estos pacientes (AU)

Malignant bone tumors are rare, and do not exceed 0.2-0.5% of all cancers. Its importance lies in that they affect young patients in the second decade of life, have a poor prognosis in the natural course and often require very aggressive and sophisticated radical treatment. However, with the enormous progress in recent years in understanding their biology, natural history and diagnostic tests, along with treatments, there are greater chances of a cure. In this article we intend to expand the knowledge on the natural history and development of the disease, diagnostic techniques, different types of treatments used, with special emphasis on associating the indication of the location, staging and progression of osteosarcoma, with prognostic criteria and the treatment applied. We believe that Primary Health Care can contribute to a correct management of these tumours (AU)

[The effectiveness of gravitational valves in the prevention of over-drainage in adult patients with hydrocephalus]. / Efectividad de las válvulas gravitacionales en la prevención del hiperdrenaje en pacientes adultos con hidrocefalia.

AIM: To evaluate the effect of gravitational valves on over-drainage in hydrocephalus in adults. PATIENTS AND METHODS: We performed a retrospective study of the shunt systems placed in patients over the age of 18 years between 1998 and 2006. Patients were divided into two groups: non-GV group (without gravitational valve) and GV group (with a gravitational valve, Aesculap-Miethke 5/35). The complications that occurred during the first year following the placement of the shunt system were recorded. RESULTS: Of a total of 137 patients, 91 were from the non-GV group and 46 belonged to the GV group. Mean age: non-GV group, 62.1 years; and GV group, 64.2 years, without any significant differences. In 80 patients the aetiology was chronic adult hydrocephalus, 19 were due to expansive processes, 15 due to vascular causes, eight pseudo tumours, six post-traumatic injuries and nine were due to other causes. In the non-GV group, 9.89% presented over-drainage, whereas there were no cases in the GV group; the difference was statistically significant (p = 0.029). In the rest of the complications there were no significant differences between the two groups. The total complications in the non-GV group were 25.27% and in the GV group, 6.52%, and there were significant differences (p = 0.01), although, above all, at the expense of over-drainage, because if this complication was excluded, then the differences were no longer significant (p = 0.175). CONCLUSIONS: In our series, the use of gravitational valves in the prevention of over-drainage in adult hydrocephalus proved to be more effective than employing valves without the gravitational device.

Efectividad de las válvulas gravitacionales en la prevención del hiperdrenaje en pacientes adultos con hidrocefalia / The effectiveness of gravitational valves in the prevention of over drainage in adult patients with hydrocephalus

Resumen. Objetivo. Evaluar el efecto de las válvulas gravitacionales sobre el hiperdrenaje en la hidrocefalia en el adulto. Pacientes y métodos. Estudio retrospectivo de los sistemas de derivación colocados en pacientes mayores de 18 años entre 1998 y 2006. Se dividió a los pacientes en dos grupos: grupo no VG (sin válvula gravitacional) y grupo VG (con válvula gravitacional, Aesculap-Miethke 5/35). Se contabilizaron las complicaciones producidas dentro del primer año tras la colocación del sistema de derivación. Resultados. Sobre un total de 137 pacientes, 91 fueron del grupo no VG y 46 del grupo VG. Edad media: grupo no VG, 62,1 años, y grupo VG, 64,2 años, sin que las diferencias fueran significativas. La etiología en 80 pacientes fue hidrocefalia crónica del adulto, 19 por procesos expansivos, 15 por causas vasculares, ocho pseudotumores, seis postraumáticos y nueve por otras causas. En el grupo no VG, un 9,89% presentó hiperdrenaje, mientras que en el grupo VG no hubo ningún caso; la diferencia fue estadísticamente significativa (p = 0,029). En el resto de las complicaciones no se obtuvieron diferencias significativas entre ambos grupos. Las complicaciones totales en el grupo no VG fueron del 25,27% y en el grupo VG del 6,52%, y hubo diferencias significativas (p = 0,01), aunque, sobre todo, a expensas del hiperdrenaje, ya que si se excluía esta complicación las diferencias no eran significativas (p = 0,175). Conclusión. En nuestra serie queda probada la eficacia de las válvulas gravitacionales en la prevención del hiperdrenaje en la hidrocefalia en el adulto comparado con las válvulas sin dispositivo gravitacional (AU)

Summary. Aim. To evaluate the effect of gravitational valves on over-drainage in hydrocephalus in adults. Patients and methods. We performed a retrospective study of the shunt systems placed in patients over the age of 18 years between 1998 and 2006. Patients were divided into two groups: non-GV group (without gravitational valve) and GV group (with a gravitational valve, Aesculap-Miethke 5/35). The complications that occurred during the first year following the placement of the shunt system were recorded. Results. Of a total of 137 patients, 91 were from the non-GV group and 46 belonged to the GV group. Mean age: non- GV group, 62.1 years; and GV group, 64.2 years, without any significant differences. In 80 patients the aetiology was chronic adult hydrocephalus, 19 were due to expansive processes, 15 due to vascular causes, eight pseudo tumours, six post-traumatic injuries and nine were due to other causes. In the non-GV group, 9.89% presented over-drainage, whereas there were no cases in the GV group; the difference was statistically significant (p = 0.029). In the rest of the complications there were no significant differences between the two groups. The total complications in the non-GV group were 25.27% and in the GV group, 6.52%, and there were significant differences (p = 0.01), although, above all, at the expense of over-drainage, because if this complication was excluded, then the differences were no longer significant (p = 0.175). Conclusions. In our series, the use of gravitational valves in the prevention of over-drainage in adult hydrocephalus proved to be more effective than employing valves without the gravitational device (AU)

Neumoencéfalo a tensión tras un registro de presión intracraneal / Tension pneumocephalus following intracranial pressure recording

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Evidence-based estimation and radiotherapy utilisation rate in Andalusia.

INTRODUCTION: The objective of this study was to estimate the theoretical needs -based on evidence- of radiotherapy treatments (RDT) in Andalusia, compare these needs with actual use of RDT in 2006 and analyse their evolution from 2003. MATERIALS AND METHODS: Correlation between quantitative variables was analysed with Pearson's correlation coefficient. This dealt with differences between administered/estimated treatments and treatments carried out in years with the Student's t-distribution, and the Xi2 test among qualitative variables. RESULTS: In Andalusia, the evidence-based rate of cancer irradiation is 55%. Eighty-five percent of theoretical treatments were administered in 2006. From this group, 107% were in gynaecological tumours, 100% in breast cancer cases, 71% in head and neck cancer and 48% in lung cancers; differences in the last two conditions were significant (p<0.01). As for regional distribution, differences were reported with reference to irradiation rates (p<0.0002) and resource distribution. In the last three years, an increment of 17% was observed in treatments conducted in public hospitals. The rate increased from 61% (with regard to optimal values) to 85% in 2006; in a parallel way, an increment was seen in therapy units (from 22 to 26) and radiation oncologists (from 57 to 69). CONCLUSIONS: Despite the increment of irradiation rates seen in the last years, there is still a serious underutilisation of RDT for some cancer types (lung, head and neck cancer), as well as a great variability in the use of RDT between hospitals.

Evidence-based estimation and radiotherapy utilisation rate in Andalusia

INTRODUCTION: The objective of this study was to estimate the theoretical needs -based on evidence- of radiotherapy treatments (RDT) in Andalusia, compare these needs with actual use of RDT in 2006 and analyse their evolution from 2003. MATERIALS AND METHODS: Correlation between quantitative variables was analysed with Pearson's correlation coefficient. This dealt with differences between administered/estimated treatments and treatments carried out in years with the Student's t-distribution, and the Xi2 test among qualitative variables. RESULTS: In Andalusia, the evidence-based rate of cancer irradiation is 55%. Eighty-five percent of theoretical treatments were administered in 2006. From this group, 107% were in gynaecological tumours, 100% in breast cancer cases, 71% in head and neck cancer and 48% in lung cancers; differences in the last two conditions were significant (p<0.01). As for regional distribution, differences were reported with reference to irradiation rates (p<0.0002) and resource distribution. In the last three years, an increment of 17% was observed in treatments conducted in public hospitals. The rate increased from 61% (with regard to optimal values) to 85% in 2006; in a parallel way, an increment was seen in therapy units (from 22 to 26) and radiation oncologists (from 57 to 69). CONCLUSIONS: Despite the increment of irradiation rates seen in the last years, there is still a serious underutilisation of RDT for some cancer types (lung, head and neck cancer), as well as a great variability in the use of RDT between hospitals (AU)

Concurrent EGFR amplification and TP-53 mutation in glioblastomas.

Glioblastoma multiforme is the most common and most aggressive of the primary brain tumors. The mean survival of patients is 10-12 months. Conventional therapy of surgery, radiation and chemotherapy is largely palliative. Cytogenetically, karyotypes of glioblastomas are very complex with trisomy 7 and monosomy 10 as the most frequent abnormalities. A genetic alteration that is significantly more frequent in primary than in secondary glioblastomas, the latter arising from preceding low-grade gliomas, is epidermal growth factor receptor gene (EGFR) amplification, whereas TP-53 mutations are significantly more frequent in low-grade gliomas and secondary glioblastomas derived there- from. We report the histological and genetic study of two glioblastomas, one case arising de novo and the other case arising 3 years after a previously diagnosed anaplastic astrocytoma, with concurrent EGFR amplification and TP-53 mutation. These anomalies were initially deemed as mutually exclusive. However, a small percentage of cases have been found with both anomalies although at a significantly lower level than could be expected. We have analyzed these two cases cytogenetically and by molecular studies in order to detect additional alterations associated with this phenotype. Cytogenetically, both cases showed in common the monosomy of chromosomes 10 and 17. At the molecular level, a rare mutation of TP-53 was found in the secondary glioblastoma and hypermethylation of the promoter region of p16(INK4a) and p14(ARF) genes were observed in the primary and secondary glioblastoma, respectively.

Association of chromosome 7, chromosome 10 and EGFR gene amplification in glioblastoma multiforme.

Glioblastoma multiforme (GBM) is characterized by intratumoral heterogeneity in both histomorphological and genetic changes, displaying a wide variety of numerical chromosome aberrations, the most common of which are trisomy 7 and monosomy 10. The amplification of the epidermal growth factor receptor (EGFR) gene is the most frequently reported genetic abnormality. The associations between these parameters and their implication in the tumoral progression are poorly understood. We performed simultaneous fluorescence in situ hybridization (FISH) with centromeric DNA probes for chromosomes 7 and 10 in smear preparations, and EGFR gene amplification by PCR from 25 cases of GBM. Trisomy/ polysomy for chromosome 7 was present in 76% of cases and monosomy 10 in 68%. Both alterations were associated in 56% of cases. The EGFR gene was amplified in 52% of tumors; in 44% associated with trisomy/ polysomy 7, and in 36% with monosomy 10. The three parameters were associated together in 28% of cases. Kaplan-Meier survival rate analysis demonstrated lower survival rates in patients with monosomy 10, trisomy 7, and monosomy associated with trisomy 7. The other combinations were not different in frequency in relation to survival. In the present study, trisomy/polysomy 7 and monosomy 10 have been found to be frequently associated. The combination of both anomalies is probably important in the tumorigenesis of glioblastoma. Moreover, this association is apparently independent of EGFR gene amplification, which could be a later event in this process.

[Breast reconstruction with the transverse rectus abdominis musculocutaneous (TRAM) flap]. / Reconstrucción mamaria con el colgajo musculocutáneo recto abdominal transverso (TRAM).

The transverse rectus abdominis musculocutaneous (TRAM) flap has been the most employed technique in autogenous breast reconstruction. It provides a new breast of adequate volume, ptosis and natural appearance, and does not require the implantation of prosthesis; a good symmetry with the contralateral breast is obtained, which lasts over time. The drawback of this technique is the morbidity of the abdominal wall. This flap sacrifices the muscle and the anterior rectus sheath which can result in consequences such as hernias and eventrations. To minimise this problem the microsurgical TRAM flap was developed, which only sacrifices a portion of muscle, significantly reducing the number of sequels. A drawback is the difficulty of the surgical technique, which requires mastery of vascular-nervous microsurgery. In conclusion, a new breast can be returned to the mastectomised woman in a completely autogenous way, with a volume, form and texture similar to the healthy side, which helps in short to recover lost self-esteem.

[Treatment of the contralateral breast in breast reconstruction. Nipple-areola reconstruction]. / Tratamiento de la mama contralateral en la reconstrucción mamaria. Reconstrucción de areola y pezón.

The final objective of breast reconstruction is to equalize as far as possible the appearance between the reconstructed breast and the contralateral breast. To this end, once the new breast monticle has been obtained through different techniques of breast reconstruction, we employ a different series of surgical techniques that allow us to obtain symmetry. In this way, we act on the one hand on the contralateral breast (either increasing it, reducing it or raising it), and on the other we act on the reconstructed breast, recreating a new nipple-areola complex, which will complete the reconstruction by giving this breast a more real and suitable appearance.