Otkrivanje delecije kromosoma 1 pomoću tehnike FISH na otiscima ependimoma ukazuje na regiju izvan kromosoma 22 važnu za recidiv tumora

Ependymomas are glial tumors. They constitute approximately 5%-10% of intracranial tumors. Ependymomas are tumors which can recur. Predictive factors of outcome in ependymomas are not well established. Karyotypic studies are relatively scarce and loss of chromosome 22 has been described to correlate with recurrence. We are unaware of any reports involving chromosome 1 aberrations in the malignant progression of ependymomas. Cytogenetic analysis of 4 ependymomas was performed using double-target fluorescent in situ hybridization (FISH) and focusing on chromosomes 1 and 22. One patient had recurrent tumor. FISH was performed on 500 nuclei/tumors. All four cases showed a loss of chromosome 22q, while only one showed an additional loss of chromosome 1p, and it was the one with tumor relapse. We support the presence of tumor suppressor gene on 1p associated with relapse in ependymomas and suggest that the chromosome 1p status by FISH may identify a high risk group of patients harboring this tumor. Additional studies in this direction are needed, as our results refer to a minimal number of individuals analyzed.Ependimomi su glialni tumori. Oni čine otprilike 5%-10% intrakranijskih tumora. Ependimomi su tumori koji se mogu ponavljati. Čimbenici koji bi ukazivali na ishod ependimoma nisu dobro utvrđeni. Kariotipska ispitivanja su relativno rijetka, a opisano je kako gubitak kromosoma 22 korelira s ponovnom pojavom tumora. Nisu nam poznata izvješća o upletenosti aberacija kromosoma 1 u malignoj progresiji ependimoma. U ovoj studiji je citogenetska analiza 4 ependimoma provedena pomoću dvociljne fluorescentne in situ hibridizacije (FISH) i fokusiranja na kromosomima 1 i 22. U jednog se bolesnika radilo o ponovnoj pojavi tumora. FISH je izvedena na 500 jezgara/tumora. Sva četiri slučaja pokazala su gubitak kromosoma 22q, dok je samo jedan, i to onaj s ponovnim razvojem tumora, pokazao dodatni gubitak kromosoma 1p. Priklanjamo se mišljenju kako je prisutnost gena tumorske supresije na 1p udru žena s recidivom kod ependimoma i ukazujemo na to da bi status kromosoma 1p utvrđen pomoću FISH mogao identificirati visoko rizičnu skupinu bolesnika koji nose ovaj tumor. Potrebne su daljnje studije u ovom smjeru, jer se naši rezultati odnose na mali broj analiziranih osoba

Is transition from paediatric to adult healthcare with a life-limiting condition associated with more unplanned hospital care?

Life-limiting conditions, which shorten or threaten to shorten life, are becoming increasingly prevalent among young people in England, attributed partly to longer survival. There are concerns about the transition from paediatric to adult healthcare.. Specialist paediatricians oversee childhood healthcare, with needed allied services provided continuously. A General Practitioner (GP) often coordinates adult healthcare; GPs may lack knowledge of the young person or condition. There can be provision gaps in allied services. Sometimes no equivalent adult service. These issues may lead to an increase in unplanned hospital care. Previous research is limited to a few more prevalent conditions and has used small, potentially unrepresentative, samples or used age to assign transition status, risking misclassification. I aimed to determine whether there is an association between transition from paediatric to adult healthcare and increased unplanned hospital care for young people with life-limiting conditions, to understand the nature of the population, including changing medical complexity and to explore the role of primary care. I used secondary data analyses of routinely collected healthcare data in England and a systematic review. My research was the first to analyse healthcare use across the transition using national data with transition point estimated for each individual, using a newly- developed method. I found the population of young people with life-limiting conditions transitioning to adult healthcare is growing in size and medical complexity, with more comorbidities and consultants of more different specialities involved. Evidence from previous studies was mixed and conflicting on changes in healthcare use at transition and there was a lack of UK studies. My research found unplanned hospital care increases for young people with life-limiting conditions after the transition and regular contact with the same GP is associated with reduced use of unplanned hospital care. The role of the GP should be considered in reforms to improve transition