Miksopapilarni ependimom kralježnične moždine u odraslih: prikaz osobne serije i pregled literature

Myxopapillary ependymomas (MPE) of the spinal cord are slow-growing benign tumors most frequently found in adults between 30 and 50 years of age. They arise from the ependyma of the filum terminale and are located in the area of the medullary conus and cauda. The recommended treatment option is gross total resection, while patients undergoing subtotal resection usually require radiotherapy. Complete resection without capsular violation can be curative and is often accomplished by simple resection of the filum above and below the tumor mass. Nevertheless, dissemination and distant treatment failure may occur in approximately 30% of the cases. In this paper, we propose an original MPE classification, which is based upon our personal series report concerned with tumor location and its correlation with the extent of resection. We also provide literature review, discussing surgical technique, tumor recurrence rate and dissemination, and adjuvant treatment. In conclusion, our findings suggest that MPE management based on the proposed 5-type tumor classification is favorable when total surgical resection is performed in carefully selected patients. Yet, further studies on a much broader model is obligatory to confirm this.Miksopapilarni ependimomi (MPE) kralježnične moždine sporo su rastući, dobroćudni tumori najčešće zastupljeni u odraslih u dobi između 30 i 50 godina života. Nastaju iz ependima filuma terminale, a pretežito su smješteni u području medularnoga konusa i kaude. Kirurško uklanjanje tumora u cijelosti preporučena je metoda liječenja, dok u bolesnika u kojih to nije moguće učiniti u obzir dolazi subtotalna resekcija nakon koje je potrebno zračenje. Potpuno uklanjanje tumora uz očuvanje cjelovitosti tumorske kapsule postiže se jednostavnom resekcijom filuma terminale iznad i ispod tumorske mase, što može dovesti do izlječenja. Unatoč tomu, tumorska diseminacija uzduž neuralne osi može se javiti u oko 30% slučajeva. U ovom radu predlažemo originalnu klasifikaciju MPE koja prosuđuje smještaj tumora i obujam tumorske resekcije, a temeljena je na osobnoj seriji operiranih bolesnika. Također raspravljamo o kirurškoj tehnici, o mogućnostima recidiva i širenja ovakvih tumora, kao i o oblicima pomoćnog liječenja, koristeći se pregledom literature. Zaključujemo kako naši rezultati zagovaraju kirurško liječenje temeljeno na predloženoj originalnoj tumorskoj klasifikaciji, koje može biti uspješno u pažljivo odabranih bolesnika u kojih je tumor uklonjen u cijelosti. Naknadna istraživanja na znatno većem uzorku potrebna su za potvrdu naših rezultata

Astrocitom kralježničke moždine niskog stupnja malignosti u odraslih: prikaz osobne serije bolesnika i pregled literature

Astrocytoma is the second most common intramedullary tumor of predominantly low-grade malignancy in adult patients. Adult astrocytomas have better-quality prognosis compared with astrocytomas in children. Although a standardized surgical management protocol for spinal cord glioma is currently unavailable, surgery of low-grade astrocytoma should be aimed at gross total resection to preserve neurological function and to improve the outcome. Herein, we present a personal case series of four consecutive adult spinal cord astrocytoma patients who were operated on during the last few years. Tumor resection was performed in all patients utilizing microsurgical technique and intraoperative neurophysiologic monitoring. We also provide a literature review of the treatment of intramedullary astrocytoma in adults and discuss contemporary surgical management and prognosis.Astrocitom kralježničke moždine je tumor pretežito niskog stupnja malignosti koji je po učestalosti drugi intramedularni tumor u odraslih u kojih je njegova prognoza znatno povoljnija u usporedbi s prognozom u djece. Unatoč tomu što standardizirani protokol za kirurško liječenje gliomskih tumora kralježničke moždine zasad ne postoji, cilj ovakvog liječenja trebao bi biti usmjeren ka uklanjanju tumora u cijelosti kako bi se očuvala neurološka funkcionalnost i poboljšala uspješnost liječenja. U ovom radu dajemo prikaz osobne serije tijekom nekoliko posljednjih godina susljedno operiranih četvero odraslih bolesnika s astrocitomom kralježničke moždine u kojih je tumor mikrokirurški uklonjen uz pomoć intraoperacijskog neurofiziološkog praćenja. U radu također donosimo pregled literature o liječenju intramedularnih astrocitoma u odraslih, raspravljajući o suvremenom kirurškom liječenju ovakvih tumora i prognozi bolesti

Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene

As major risk-factors for diabetes and cardiovascular diseases, the genetic contribution to obesity-related traits has been of interest for decades. Recently, a limited number of common genetic variants, which have replicated in different populations, have been identified. One approach to increase the statistical power in genetic mapping studies is to focus on populations with increased levels of linkage disequilibrium (LD) and reduced genetic diversity. We have performed joint linkage and genome-wide association analyses for weight and BMI in 3,448 (linkage) and 3,925 (association) partly overlapping healthy individuals from five European populations. A total of four chromosomal regions (two for weight and two for BMI) showed suggestive linkage (lod > 2.69) either in one of the populations or in the joint data. At the genome-wide level (nominal P < 1.6 x 10(-7), Bonferroni-adjusted P < 0.05) one single-nucleotide polymorphism (SNP) (rs12517906) (nominal P = 7.3 x 10(-8)) was associated with weight, whereas none with BMI. The SNP associated with weight is located close to MGAT1. The monoacylglycerol acyltransferase (MGAT) enzyme family is known to be involved in dietary fat absorption. There was no overlap between the linkage regions and the associated SNPs. Our results show that genetic effects influencing weight and BMI are shared across diverse European populations, even though some of these populations have experienced recent population bottlenecks and/or been affected by genetic drift. The analysis enabled us to identify a new candidate gene, MGAT1, associated with weight in women

Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.

As major risk-factors for diabetes and cardiovascular diseases, the genetic contribution to obesity-related traits has been of interest for decades. Recently, a limited number of common genetic variants, which have replicated in different populations, have been identified. One approach to increase the statistical power in genetic mapping studies is to focus on populations with increased levels of linkage disequilibrium (LD) and reduced genetic diversity. We have performed joint linkage and genome-wide association analyses for weight and BMI in 3,448 (linkage) and 3,925 (association) partly overlapping healthy individuals from five European populations. A total of four chromosomal regions (two for weight and two for BMI) showed suggestive linkage (lod > 2.69) either in one of the populations or in the joint data. At the genome-wide level (nominal P < 1.6 x 10(-7), Bonferroni-adjusted P < 0.05) one single-nucleotide polymorphism (SNP) (rs12517906) (nominal P = 7.3 x 10(-8)) was associated with weight, whereas none with BMI. The SNP associated with weight is located close to MGAT1. The monoacylglycerol acyltransferase (MGAT) enzyme family is known to be involved in dietary fat absorption. There was no overlap between the linkage regions and the associated SNPs. Our results show that genetic effects influencing weight and BMI are shared across diverse European populations, even though some of these populations have experienced recent population bottlenecks and/or been affected by genetic drift. The analysis enabled us to identify a new candidate gene, MGAT1, associated with weight in women

Past, present, and future of informed consent in pain and genomics research: Challenges facing global medical community

In recent decades, there has been a revision of the role of institutional review boards with the intention of protecting human subjects from harm and exploitation in research. Informed consent aims to protect the subject by explaining all of the benefits and risks associated with a specific research project. To date, there has not been a review published analyzing issues of informed consent in research in the field of genetic/Omics in subjects with chronic pain, and the current review aims to fill that gap in the ethical aspects of such investigation. Despite the extensive discussion on ethical challenges unique to the field of genetic/Omics, this is the first attempt at addressing ethical challenges regarding Informed Consent Forms for pain research as the primary focus. We see this contribution as an important one, for while ethical issues are too often ignored in pain research in general, the numerous arising ethical issues that are unique to pain genetic/Omics suggest that researchers in the field need to pay even greater attention to the rights of subjects/patients. This article presents the work of the Ethic Committee of the Pain-Omics Group (www.painomics.eu), a consortium of 11 centers that is running the Pain-Omics project funded by the European Community in the 7th Framework Program theme (HEALTH.2013.2.2.1-5—Understanding and controlling pain). The Ethic Committee is composed of 1 member of each group of the consortium as well as key opinion leaders in the field of ethics and pain more generally