Two cases of spontaneous regression of metastasis secondary to renal cell carcinoma

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenSpontaneous regression of metastatic renal cell carcinoma is a rare but well documented event, most often involving pulmonary metastasis. Two cases involving brain and pleural metastasis are presented. In both cases nephrectomy was the only treatment.Sjálfkrafa hvarf meinvarpa nýrnafrumukrabbameins er sjaldséð fyrirbæri. Hér er lýst tveimur tilfellum sem vitað er með vissu að hafi greinst hér á landi. Annars vegar er um að ræða sjálfkrafa hvarf meinvarpa í heila og hins vegar í fleiðru. Báðir sjúklingarnir eru á lífi í dag við góða heilsu, 17 og 11 árum eftir greiningu meinvarpann

Bone Mineral Density and Fracture Risk Assessment to Optimize Prosthesis Selection in Total Hip Replacement

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.The variability in patient outcome and propensity for surgical complications in total hip replacement (THR) necessitates the development of a comprehensive, quantitative methodology for prescribing the optimal type of prosthetic stem: cemented or cementless. The objective of the research presented herein was to describe a novel approach to this problem as a first step towards creating a patient-specific, presurgical application for determining the optimal prosthesis procedure. Finite element analysis (FEA) and bone mineral density (BMD) calculations were performed with ten voluntary primary THR patients to estimate the status of their operative femurs before surgery. A compilation model of the press-fitting procedure was generated to define a fracture risk index (FRI) from incurred forces on the periprosthetic femoral head. Comparing these values to patient age, sex, and gender elicited a high degree of variability between patients grouped by implant procedure, reinforcing the notion that age and gender alone are poor indicators for prescribing prosthesis type. Additionally, correlating FRI and BMD measurements indicated that at least two of the ten patients may have received nonideal implants. This investigation highlights the utility of our model as a foundation for presurgical software applications to assist orthopedic surgeons with selecting THR prostheses.National University Hospital of Iceland Icelandic Research Fund "Rannis" Landspitali University Hospita

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Publisher's version (útgefin grein) Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase’s main subunit (gp91phox) and results in CGD. Analyzing two brothers diagnosed with CGD we identify a homozygous loss-of-function mutation, p.Tyr2Ter, in CYBC1. Imputation of p.Tyr2Ter into 155K chipgenotyped Icelanders reveals six additional homozygotes, all with signs of CGD, manifesting as colitis, rare infections, or a severely impaired PMA-induced neutrophil oxidative burst. Homozygosity for p.Tyr2Ter consequently associates with inflammatory bowel disease (IBD) in Iceland (P = 8.3 × 10−8; OR = 67.6), as well as reduced height (P = 3.3 × 10−4; −8.5 cm). Overall, we find that CYBC1 deficiency results in CGD characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction.We wish to thank the family of the two probands, as well as all the other individuals who participated in the study and whose contribution made this work possible.Peer Reviewe

The weight of school children and its relationship to performance in studies and well-being

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: There has been significant weight gain among Western populations during the past few decades, including children and adolescents. The aim of this research was to investigate the possibility of discovering a correlation between the weight of primary school children and their well-being and performance in studies. There was also an interest in determining the weight development of children and adolescents during a period of thirty years and attempting to answer the question whether they were still putting on weight. Methods and materials: The target population of the research project comprised pupils in the 4th, 7th and 10th grades of primary schools within the service area of Akureyri Health Centre during the winter of 2000-2001. The above classes were chosen on the basis of the fact that they all sat the national coordinated examination. Data were collected to discover Body Mass Index (BMI, weight/height_, kg/m_), measure performance in studies (the results in nationally coordinated examinations in Icelandic and arithmetic) and assess well-being by means of a questionnaire (Youth Self Report, YSR), which was only presented to the 7th and 10th grade. Furthermore, BMI was determined for corresponding groups from the school years 1970-71, 1980-81 and 1990-91, using information obtained from school health reports for the pupils in question. Results: This group consisted of 819 pupils and information was available on 568 of those, or about 70%. The weight gain which turned out to have occurred between the years 1970 and 1990 did not occur in the final decade of the 20th century and this applies to all three year groups. No difference was between those living in urban and rural areas. This was found to be the case, both when comparing the average BMI of the year groups and the proportion of children who are above a certain threshold of criteria. Furthermore, it was found that excessive weight/obesity is related to slack study results and a poor state of well-being among pupils in the 10th grade of the primary school. Such a relationship, however, did not exist among students in the 7th grade. Heavier pupils in the 4th grade perform better in their studies than their lighter peers, although this difference is not statistically significant. Conclusions: The unfavourable trend towards weight gain that we have seen in the past may now be changing. Other research pointing in the same direction has not been found, however, and more results are needed before this can be stated as a fact. Weight has a stronger influence on the well-being of adolescents in their upper teens, or towards the end of primary school, than is the case with younger pupils. This research does not explain why, although it may be assumed that the social environment of older children and adolescents is a significant factor in this respect. As the children grow older, a correlation begins to appear between being overweight and having less performance in studies and none of the heavier pupils show excellent school performance.Tilgangur: Þyngdaraukning meðal vestrænna þjóða er veruleg síðustu áratugi og á það einnig við um börn og unglinga. Markmið þessarar rannsóknar var að kanna hvort finna mætti tengsl á milli þyngdar grunnskólabarna og hvernig þeim liði og árangurs þeirra í námi. Ennfremur var áhugi á að sjá hver hefur verið þróun í þyngd barna og unglinga á þrjátíu ára tímabili og leita svara við spurningunni hvort þau væru enn að þyngjast. Efniviður og aðferðir: Rannsóknin náði til nemenda í 4., 7. og 10. bekk grunnskóla á starfssvæði Heilsugæslustöðvarinnar á Akureyri veturinn 2000-2001. Umræddir árgangar urðu fyrir valinu þar sem þeir þreyttu allir samræmd próf. Gögnum var safnað til að finna líkamsþyngdarstuðul, LÞS (Body Mass Index, BMI, þyngd/hæð_, kg/m_), mæla námsárangur (niðurstöður samræmdra prófa í íslensku og stærðfræði) og líðan með spurningalista (Youth Self Report, YSR) sem var eingöngu lagður fyrir 7. og 10. bekk. Ennfremur var fundið LÞS fyrir sambærilega hópa frá skólaárunum 1970-71, 1980-81 og 1990-91 og voru þær upplýsingar unnar úr heilsufarsskýrslum skóla fyrir þessa nemendur. Niðurstöður: Í þessum hópi voru alls 819 nemendur og fengust upplýsingar um 568 þeirra eða um 70%. Marktæk þyngdaraukning reyndist vera milli áranna 1970 og 1990 en var ekki til staðar á tíunda áratug 20. aldar og á það við alla árgangana þrjá. Á það bæði við þegar borið er saman meðaltal LÞS þessara árganga og hlutfall þeirra barna sem eru yfir ákveðnum viðmiðunarmörkum. Enginn munur var eftir búsetu í þéttbýli eða dreifbýli. Þá kom í ljós að ofþyngd/offita tengist slöku námsgengi og slakri líðan meðal nemenda í 10. bekk grunnskóla. Slík tengsl eru ekki til staðar meðal nemenda í 7. bekk. Þyngri nemendur í 4. bekk sýna betri námsárangur en þeir sem léttari eru en sá munur er þó ekki marktækur. Ályktanir: Hugsanlega er sú óhagstæða þróun í átt til þyngdaraukningar sem verið hefur að breytast. Þó hafa ekki fundist aðrar rannsóknir sem benda í sömu átt og þarf því frekari niðurstöður áður en hægt er að fullyrða að svo sé. Þyngd hefur meiri áhrif á líðan eldri unglinga eða undir lok grunnskóla en þeirra sem yngri eru. Þessi rannsókn svarar ekki hvers vegna en gera má ráð fyrir að hin auknu félagslegu áhrif sem börn og unglingar verða fyrir þegar þau eru eldri skipti hér verulegu máli. Eftir því sem börnin verða eldri þá fer að gæta sambands milli þess að vera of þungur og ganga lakar í námi og meðal þungra eru engir nemendur sem ná ágætum námsárangri

A retrospective study on Icelandic men diagnosed with non-seminomatous testicular cancer 1971-1995

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenIntroduction: Survival of patients with testicular cancer has changed dramatically over the last two decades. This is mainly related to more successful chemotherapy, using combinations of drugs including cisplatinum. Therapy with cisplatinum was started in 1978 in Iceland. The survival of Icelandic men with non-seminoma testicular cancer, before and after this change in therapy, is not known. Objective: Therefore a retrospective population-based study was carried out on all Icelandic males diagnosed with non-seminoma testicular cancer between 1971 and 1995. Material and methods: Fifty-seven males with an average age of 29.1 years (range 17-52) were included in the study. Clinical information was obtained from the Icelandic Cancer Registry and hospital records. All specimens were reexamined by a pathologist and the modified staging system of Boden and Gibb was used for staging the disease. Crude survival was evaluated with the Kaplan-Meier method. Results: Age standardized incidence for non-seminoma testicular cancer was 1.8 / 100,000 males per year for the whole period. Among the 57 patients, testicular swelling (93%) and pain (56%) were the most common symptoms at diagnosis. All 57 patients underwent orchiectomy, and 37 received chemotherapy as well. The most common histological type was embryonal carcinoma (44%) and average tumor diameter was 4.3 cm with a range of 1-12 cm. Tventy-six (51%) patients had stage I disease at diagnosis but 10 (17%) had stage IV. Crude five and 10 year survival for the whole group was 85% and 83%. From 1971 to 1977 the crude five year survival was 36% but 98% for the period 1978-1995. In December 1995 seven (64%) of 11 patients diagnosed between 1971-1977 have died of the disease. On the other hand only two patients (4%) diagnosed after 1977 have died as of december 1995. One because of acute myelogenic leukemia, nearly seven years after diagnosis of testis cancer. The other died of teratocarcinoma 12 months after diagnosis despite intensive chemotherapy including cisplatinum. Conclusion: Survival of patients with non-seminoma testicular cancer in Iceland has improved dramatically after the introduction of cisplatinum based chemotherapy in 1978. Of 46 patients diagnosed after 1977 only one (2%) has died because of the disease and median follow up was eight years. The incidence is low compared to other Western countries if Norway and Danmark are not included, were the incidence is much higher. Clinical presentation of the disease is similar between these countries.Inngangur: Langflest æxli í eistum eru upprunnin í frjófrumum (germ cells) eistans og eru algengustu æxli sem greinast í ungum körlum. Rúmlega helmingur þeirra eru sáðkrabbamein (seminoma). Tæplega helmingur eru frjófrumuæxli með mismunandi og oft blandaðri meingerð, en eru engu aö síður flokkuð saman sem frjófrumuæxli önnur en sáðkrabbamein (non-seminoma). Erlendis hefur síðustu tvo áratugi verið sýnt fram á mjög bættar lífshorfur sjúklinga með þessi æxli. Lítil von var um lækningu áður, nema sjúkdómur væri staðbundinn, en ný krabbameinslyf hafa breytt miklu um meðferð við útbreiddum sjúkdómi. Lífshorfur íslenskra karla með þennan sjúkdóm eru ekki þekktar. Tilgangur: Markmið rannsóknarinnar var að kanna með hvaða hætti sjúklingar með frjófrumuæxli önnur en sáðkrabbamein greinast hérlendis, stigun sjúkdómsins við greiningu, nýgengi, vefjagerð, meðferð og lífshorfur. Efniviður og aðferðir: Rannsóknin er afturskyggn og nær til allra íslenskra karlmanna, sem greindust með þessa gerð æxla á árunum 1971-1995. Upplýsingar um einkenni, aldur, greiningarár, stigun, meðferð og gang sjúkdóms eru fengnar úr sjúkraskrám. Öll vefjasýni voru endurskoðuð af meinafræðingi. Stuðst var við stigunarkerfi kennt við Boden og Gibb og lífshorfur reiknaðar með Kaplan-Meier aðferð. Niðurstöður: Alls greindust 57 sjúklingar á tímabilinu, meöalaldur var 29,1 ár og aldursbil 17-52 ár. Aldursstaðlað nýgengi á tímabilinu var 1,8 fyrir 100.000 karla á ári. Flestir leituðu til læknis vegna fyrirferðar í eista (93%), en aðrir kvörtuðu yfir verk eða þyngslatilfinningu í pung (56%). Tæplega fimmtungur hafði haft einkennin í meira en sex mánuði fyrir greiningu en fæstir (5%) í minna en tvær vikur. Eistabrottnám var framkvæmt í öllum tilvikum. Meðalstærð æxlis var 4,3 cm (1-12 cm). Stigun, byggð á skoðun og rannsóknum, leiddi í ljós að rúmlega helmingur virtist með staðbundinn sjúkdóm við greiningu en 17% með útbreiddan. Af þeim sem virtust vera með staðbundinn sjúkdóm við greiningu fengu 38% meinvörp síðar. Fimm ára lífshorfur hópsins í heild voru 83%. Greinileg breyting verður á lífshorfum eftir að ný lyf komu til sögunnar. Þannig eru fimm ára lífshorfur þeirra, sem greindust fyrir 1978 aðeins 36%, en 98% eftir það. Sjúklingar greindir fyrir 1978 sem létust, gerðu það allir af völdum sjúkdómsins. Af sjúklingum greindum 1978 og síðar hafa tveir látist, annar af völdum sjúkdómsins. Tilgáta: Nýgengi frjófrumuæxla annarra en sáðfrumukrabbameins á Íslandi er svipað og hjá öðrum vestrænum þjóðum, að undanskildum Danmörku og Noregi þar sem sjúkdómurinn er mun algengari. Klínísk einkenni og sjúkdómsstigun eru einnig sambærileg. Lífshorfur sjúklinga hér á landi hafa batnað umtalsvert síðasta áratuginn og má gera ráð fyrir að langflestir læknist jafnvel þótt um útbreiddan sjúkdóm sé aö ræða

Two cases of spontaneous regression of metastasis secondary to renal cell carcinoma

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenSpontaneous regression of metastatic renal cell carcinoma is a rare but well documented event, most often involving pulmonary metastasis. Two cases involving brain and pleural metastasis are presented. In both cases nephrectomy was the only treatment.Sjálfkrafa hvarf meinvarpa nýrnafrumukrabbameins er sjaldséð fyrirbæri. Hér er lýst tveimur tilfellum sem vitað er með vissu að hafi greinst hér á landi. Annars vegar er um að ræða sjálfkrafa hvarf meinvarpa í heila og hins vegar í fleiðru. Báðir sjúklingarnir eru á lífi í dag við góða heilsu, 17 og 11 árum eftir greiningu meinvarpann