Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.

BACKGROUND: Glioblastoma is the most aggressive and common malignant primary brain tumor in adults. Many genetic, epigenetic and genomic mutations have been identified in this tumor, but no driving cause has been identified yet for glioblastoma pathogenesis. Autophagy has proved to be deregulated in different diseases such as cancer where it has a dual role, acting as a tumor suppression mechanism during the first steps of tumor development and promoting cancer cells survival in stablished tumors. METHODS: Here, we aimed to assess the potential association between several candidate polymorphisms in autophagy genes (ATG2B rs3759601, ATG16L1 rs2241880, ATG10 rs1864183, ATG5 rs2245214, NOD2 rs2066844 and rs2066845) and glioblastoma susceptibility. RESULTS: Our results showed a significant correlation between ATG2B rs3759601, ATG10 rs1864183 and NOD2 rs2066844 variants and higher risk to suffer glioblastoma. In addition, the relationship between the different clinical features listed in glioblastoma patients and candidate gene polymorphisms was also investigated, finding that ATG10 rs1864183 might be a promising prognosis factor for this tumor. CONCLUSIONS: This is the first report evaluating the role of different variants in autophagy genes in modulating glioblastoma risk and our results emphasize the importance of autophagy in glioblastoma development.

[Overview of head injury]. / Revisión del traumatismo craneoencefálico.

A systematic revision of the main practical aspects related with the head injury management has been made in this article on the basis of relevant literature. The paper has been developed in different sections consisting of epidemiological factors, prognosis and classification, neuropathology and pathophysiology, clinical evaluation and treatment. According to clinical guidelines, the connections between the pathophysiological features with higher evidence degree and the schemes of therapeutic approaches have been emphasized.

[Epidural lumbar hematoma, epidural anesthesia and low-molecular-weight heparins]. / Hematoma epidural lumbar, anestesia epidural y heparinas de bajo peso molecular.

Epidural hematoma is an uncommon but serious complication of epidural anaesthesia. The use of low molecular weight heparin (LMWH) as thromboprophylaxis has increased the occurrence of this pathology. We report the case of a 81-year-old man who underwent an arthroscopy of the knee, with epidural anaesthesia and administration of LMWH. The patient suffered an important pain due to a lumbar epidural haematoma which was diagnosed by magnetic resonance, after withdrawal of the epidural catheter. He improved after surgical evacuation, and no neurological deficit was present. We comment the association of LMWH, epidural anaesthesia and epidural haematoma.

[Ischemic infarct, mitral valve prolapse and protein S deficiency]. / Infarto isquémico, prolapso de válvula mitral y déficit de proteína S.

Ischaemic stroke in young people, that is in those under 45 years of age, forms a distinct entity. Whereas in the case of older patients the main cause is arteriosclerosis, in the younger group a broad spectrum of etiologies can be found. It is for this reason that in these latter cases we must carry out a diagnostic study that is not only more exhaustive but also additionally is aimed at seeking out specific pathologies as for instance a possible association with vasculitis, infectious diseases, hematological abnormalities or unclear cardiopathology. Given the therapeutic transcendency that findings might have, in order to avoid new bouts in patients at the most productive moments in their lives, we believe it to be of great interest to carefully study these patients as exhaustively as need be. In the present work we present the case of a young patient with ischaemic infarct in the region of both upper cerebella which started out with a clinical picture of ataxia and dysarthria with benign course and total recovery. Possible etiologies are discussed in the light of findings made during complementary tests, as well as the unusual location of the lesions.

[Radiation-induced intracerebral sarcoma]. / Sarcoma intracerebral radioinducido.

We report a case of radiation-induced sarcoma in a 50 year-old male patient who was treated with total resection and radiation for right temporal lobe PNET. He received a dose of 60-Gy. A sequential magnetic resonance image 32 months after the completion of radiation therapy and 34 months after surgery showed a mass in the right temporal cerebral convexity. The postoperative diagnosis was sarcoma. Two years later the patient was operated because of a new lesion with similar characteristics. The follow up from the PNET diagnosis is 5 years and 10 months and the survival from sarcoma diagnosis is now 3 years and there is no evidence of recurrence. The development of sarcoma subsequent to cranial irradiation is an infrequent event but it should be considered in the differential diagnosis of a lesion that progresses several years after radiation therapy or when a new lesion appear.

Parosteal osteosarcoma of the skull.

Parosteal osteosarcoma of the skull is a distinct surface bone tumor, with a better prognosis than conventional osteosarcoma. The most common location is on the surface of the distal femur which accounts for 46-66% of the cases. The presentation in the skull is uncommon and there are few cases reported in the literature. We describe the case of a man who developed a parosteal osteosarcoma arising from the occipital bone with extension to the parietal bone. The patient was operated and had a complete tumor resection.

[Wilson disease: a new case treated with trientine]. / Enfermedad de Wilson: a propósito de un caso tratado con trientine.

Hepatolenticular degeneration, also known as Wilson's disease (WD), is an infrequent hereditary disorder which is transmitted in recessive autosomic fashion: its genetic defect is to be found in the long branch of chromosome 13 (13q14.3) and allows disorder to take place which has not been sufficiently clarified, in the bilious excretion of the copper (Cu) which is deposited in an anomalous manner on a level with different organic tissues, giving rise to characteristic clinical manifestations which are, basically, of a neurological, hepatic, psychiatric and ocular nature. We present the case of a young patient whose case began, four years ago, with depressive-type manifestations, with diagnosis only being made now. Our opinion on the early detection of asymptomatic patients is commented on, along with that concerning the effectiveness and safety of therapeutic alternatives to D-penicilamine.

Recurrence in a different location of a cerebral arteriovenous malformation in a child after radiosurgery.

The case of a 9-year-old girl with a right parietal arteriovenous malformation (AVM) of the brain obliterated after gamma knife (GK) radiosurgery with subsequent regrowth in a different site is reported. As far as we know, this is the first reported case of regrowth of an AVM in a different location after radiosurgery in a child. This situation has to be considered within the context of causes of unsuccessful treatment of AVMs with radiosurgery and justifies angiographic monitoring of pediatric patients until they reach adulthood.

[Canavan's disease: apropos of a case]. / Enfermedad de Canavan: a propósito de un caso.

One case of spongy degeneration of CNS in infancy is presented. Main clinical features were, complete failure of motor and mental development, sudden hypotonia and hyperreflexia, blindness and optic atrophy. Computed tomography demonstrated a decrease in white matter density of cerebral hemispheres. Histopathological studies confirmed clinical diagnosis of Canavan's disease and indicated presence of abnormal mitochondria in accordance with those reported in the literature.

[Comparative analysis of 2 methods of DNA extraction]. / Análisis comparativo de dos métodos de extracción de ADN.

The study of the organization of immunoglobulin and T cell receptor genes in leukaemias and lymphomas depends on our ability to obtain high molecular weight DNA. We have compared two different methods of DNA extraction: one being enzymatic, using the enzyme proteinase K, and the other chemical, using urea as a substance purifying DNA. Since the amount and purity of the DNA obtained are similar with each of the two methods of DNA extraction, both are valid to make such a genetic analysis.