Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study.

BACKGROUND: In recent years, the identification of genetic and phenotypic biomarkers of cancer for prevention, early diagnosis and patient stratification has been a main objective of research in the field. Different multivariable models that use biomarkers have been proposed for the evaluation of individual risk of developing breast cancer. METHODS: This is a case control study based on a population-based cohort. We describe and evaluate a multivariable model that incorporates 92 Single-nucleotide polymorphisms (SNPs) (Supplementary Table S1) and five different phenotypic variables and which was employed in a Spanish population of 642 healthy women and 455 breast cancer patients. RESULTS: Our model allowed us to stratify two groups: high and low risk of developing breast cancer. The 9th decile included 1% of controls vs 9% of cases, with an odds ratio (OR) of 12.9 and a p-value of 3.43E-07. The first decile presented an inverse proportion: 1% of cases and 9% of controls, with an OR of 0.097 and a p-value of 1.86E-08. CONCLUSIONS: These results indicate the capacity of our multivariable model to stratify women according to their risk of developing breast cancer. The major limitation of our analysis is the small cohort size. However, despite the limitations, the results of our analysis provide proof of concept in a poorly studied population, and opens up the possibility of using this method in the routine screening of the Spanish population.

[Palatal myoclonus associated with myotonic dystrophy type 1]. / Mioclonia palatina asociada a distrofia miotonica de tipo 1.

TITLE: Mioclonia palatina asociada a distrofia miotonica de tipo 1.

Afasia secundaria a infarto cerebeloso izquierdo / Aphasia secondary to a left cerebellar infarction

No disponible

Reduction in the anxiolytic effects of ethanol by centrally formed acetaldehyde: the role of catalase inhibitors and acetaldehyde-sequestering agents.

RATIONALE: Considerable evidence indicates that brain ethanol metabolism mediated by catalase is involved in modulating some of the behavioral and physiological effects of this drug, which suggests that the first metabolite of ethanol, acetaldehyde, may have central actions. Previous results have shown that acetaldehyde administered into the lateral ventricles produced anxiolysis in a novel open arena in rats. OBJECTIVES: The present studies investigate the effects of centrally formed acetaldehyde on ethanol-induced anxiolysis. MATERIALS AND METHODS: The effects of the catalase inhibitor sodium azide (SA; 0 or 10 mg/kg, IP) on ethanol-induced anxiolysis (0.0, 0.5, or 1.0 g/kg, IP) were evaluated in CD1 mice in two anxiety paradigms, the elevated plus maze and the dark/light box. Additional studies assessed the effect of the noncompetitive catalase inhibitor 3-amino-1,2,4-triazole (AT; 0.5 g/kg, IP) and the acetaldehyde inactivation agent D: -penicillamine (50 mg/kg, IP) on the plus maze. RESULTS: SA reduced the anxiolytic effects of ethanol on several parameters evaluated in the elevated plus maze and in the dark/light box. In the plus maze, AT completely blocked and D-penicillamine significantly reduced the anxiolytic properties of ethanol. CONCLUSIONS: Thus, when cerebral metabolism of ethanol into acetaldehyde is blocked by catalase inhibitors, or acetaldehyde is inactivated, there is a suppressive effect on the anxiolytic actions of ethanol. These data provide further support for the idea that centrally formed or administered acetaldehyde can contribute to some of the psychopharmacological actions of ethanol, including its anxiolytic properties.

Extraskeletal myxoid chondrosarcoma of the infratemporal fossa: a case report.

Extraskeletal myxoid chondrosarcoma is a rare tumour affecting the head and neck. We present a new case located in the midfacial region. Clinical, pathological and therapeutical features are reviewed.

Indicaciones Actuales de la Fijación Intermaxilar / Current Indications of Intermaxillary Fixation

A lo largo de la historia, el tratamiento de las fracturas de los maxilares ha sufrido una evolución hasta las actuales técnicas de osteosíntesis con miniplacas y tornillos, que permiten buenos resultados con una escasa frecuencia de complicaciones. Ante estos avances, se debate la necesidad actual de la técnica del bloqueo intermaxilar. clásicamente utilizado para obtener la inmovilización fragmentaria en este tipo de fracturas. Exponemos en este trabajo las indicaciones actuales de este método terapéutico, así como los nuevos dispositivos de fijación de los que disponemos en la actualidad (AU)

Carcinomatosis meníngea como primera manifestación del carcinoma de vejiga: a propósito de dos casos / Meningeal carcinomatosis as the first manifestation of bladder cancer: review of two cases

La carcinomatosis meníngea ocurre en el 0,8-8 porciento de los tumores sólidos. Las neoplasias que con mayor frecuencia se han asociado a esta patología son el carcinoma de mama y de pulmón de células pequeñas. Las metástasis meníngeas por carcinoma de células transicionales de vejiga son raras y generalmente aparecen en fases avanzadas de la enfermedad. A continuación se presentan dos casos de carcinomatosis meníngea como primera manifestación tumoral de un carcinoma vesical. En el primer caso se presenta un varón de 46 años que debutó con signos de afectación medular, generalizándose posteriormente con afectación de base de cráneo y encéfalo. En el segundo caso un varón de 68 años se presentó con panhipopitituarismo y linfangitis pulmonar de primario desconocido, diagnosticándose posteriormente de tumor vesical y carcinomatosis meníngea tras desarrollar hidrocefalia obstructiva. Se destaca el polimorfismo de la presentación de la carcinomatosis meníngea y la necesidad de considerar la vejiga como localización del tumor primario (AU)

[Meningeal carcinomatosis as first manifestation of carcinoma of the bladder: report of 2 cases]. / Carcinomatosis meníngea como primera manifestación del carcinoma de vejiga: a propósito de dos casos.

Meningeal carcinomatosis may occur in 0.8-8% of patients with solid tumors. The most common tumors associated with that condition are breast and small cell lung cancer. Meningeal carcinomatosis from urothelial cancer is rare, and it appears described in advanced stages of disease, generally, after chemotherapy. Two cases of meningeal carcinomatosis as the first manifestation of bladder cancer were reported. In the first case, a 46-year-old man presented signs and symptoms indicative of involvement of the spinal roots, subsequently neurologic dysfunction of the brain and cranial nerves appeared. In the second case, a 68-year-old man was admitted to our hospital with a history compatible with panhypopituitarism and pulmonary lymphangitic carcinomatosis from cancer of unknown primary site. Follow-up revealed a transitional cell carcinoma of the bladder and hydrocephalus due to cerebrospinal fluid outflow obstruction. We emphasize in the polymorphic presentation of meningeal carcinomatosis and the necessity to consider the bladder as primary tumor localization.

[Spontaneous dissection of the internal carotid artery. A report of two cases]. / Disección espontánea de la arteria carótida interna. Presentación de dos casos.

INTRODUCTION: Dissection of the internal carotid artery is a condition with a broad clinical spectrum. In absence of the classical triad of cervical pain, oculosympathetic ipsilateral paralysis and ischemic cerebral symptoms a considerable index of clinical suspicion is necessary to make a diagnosis. It is therefore considered to be probably underdiagnosed. The development of new techniques for neurovascular investigation, particularly ultrasound and magnetic angioresonance have improved the possibilities of diagnosis. CLINICAL CASES: In this paper we describe two cases of dissection of the internal carotid artery representing different clinical findings in the same condition. One patient presented with unilateral paralysis of the XI, X and XII cranial nerves and the other with transient ischemic cerebral accidents. In both cases the provisional diagnosis was made in function of the duplex findings of the supra-aortic trunks and confirmed by magnetic angioresonance studies. Both patients made satisfactory progress with complete recanalization of the vessels and no recurrence of symptoms after several months of follow-up. CONCLUSION: We discuss the different clinical characteristics and findings of the neurovascular examinations.

[Motor complications of treatment with levodopa in Parkinson's disease]. / Complicaciones motoras del tratamiento con levodopa en la enfermedad de Parkinson.

INTRODUCTION: Motor complications of treatment with levodopa affect more than 50% of patients after several years' treatment. This has a marked effect on patients with Parkinson's disease since these side effects are undesirable, affect the natural course of the disorder and complicate treatment. DEVELOPMENT: In this review we describe the main epidemiological, physiopathological and therapeutic aspects of the motor complications of levodopa. According to most epidemiological studies, starting treatment at an early age and more severe degree of the disorder are the main risk factors. The physiopathology of motor complications is varied. It has been thought to be due to loss of the buffer effect of the brain on plasma levels of levodopa, alterations in the functional state of the postsynaptic receptors and chronic intermittent use of levodopa. Management includes division and/or reduction of the dose of levodopa, use of slow-release preparations and association of dopaminergic agonists with COMT inhibitors which are the latest drugs to be tried. Various surgical possibilities in specialist centres may also be considered for serious cases of motor complications which do not respond to medical treatment. CONCLUSIONS: Recent advances in understanding the physiopathology and in the medical and surgical treatment permit improved control of the motor complications of chronic treatment with levodopa.

[Levodopa-induced psychosis in patients with idiopathic Parkinson disease]. / Psicosis por levodopa en pacientes con enfermedad de Parkinson idiopática.

BACKGROUND: To identify which clinical factors can modify the probability of the appearance of the psychotic syndromes in patients with idiopathic Parkinson's disease treated with levodopa. PATIENTS AND METHODS: 214 patients were retrospectively studied to evaluate the appearance of hallucinosis, delusions or mental confusion, from the beginning of the treatment with levodopa to a transversal evaluation along the course of the disease. To determine which clinical factors were independent predictors of psychosis, a multivariate logistic regression model was obtained, using the variables for which the univariate studies showed p values under 0.25. RESULTS: The multivariate model showed that the probability of developing psychosis during levodopa treatment was higher for the patients with intermediate or advanced stages of the disease (Hoehn and Yarh scale), at the beginning of the treatment (OR: 4.5; 95% CI: 1.86-11.23), when amantadine was administrated as associated drug (OR: 3.31; 95% CI: 1.19-9.23) and for the patients who presented motor fluctuations (OR: 3.08; 95% CI: 1.32-7.16). Univariate studies showed a significant association between levodopa psychosis and dyskinesias (univariate OR: 2.44; 95% CI: 1.12-5.33). Patients who suffered from psychotic complications had received significantly higher mean levodopa daily dose (p = 0.016) and the punctuation reached in the Folstein's Mini-Mental Scale was significantly lower (p = 0.0001). CONCLUSIONS: Levodopa psychosis appears in a "bad prognostic" group of patients, characterized by a greater motor and cognitive impairment and by the occurrence of other levodopa central adverse effects, higher doses of levodopa and a more frequent administration of other antiparkinsonian drugs.

Severe central nervous system toxicity after chronic treatment with cyclosporine.

Severe neurologic complications following treatment with cyclosporine are uncommon. They tend to occur during the first month of treatment and disappear after withdrawal or reduction of the dose of the drug. We report the case of a man who underwent a liver transplantation and subsequently developed severe central nervous system toxicity. After two years receiving cyclosporine, he presented with a brachial monoparesis and a complex visual disturbance. Symptoms slowly worsened during four months. On admission, he had confusion and seizures. Multiple areas of T2 prolongation, located in cerebral white matter, were seen on magnetic resonance imaging (MRI). Symptoms partially improved after cyclosporine withdrawal, but brain lesions shown on MRI persisted in serial imaging studies after two years of follow-up. We discuss the mechanisms that have been proposed to explain this clinical picture. Severe cyclosporine-associated neurotoxicity can also occur after chronic administration, even with serum levels in therapeutic range.