A 78 year-old man with hyponatremia, malaise and weight loss caused by a pituitary mass

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open Allur texti - Full textA 78 year-old male was admitted for rehabilitation after a trans-tibial amputation three months earlier. Scheduled training with a prosthetic leg was postponed due to muscle atrophy and weakness. As the patient's status deteriorated, blood results showed worsening hyponatremia.Work-up revealed pituitary insufficiency caused by a pituitary mass. The patient's general health improved greatly and the hyponatremia corrected after hormonal replacement therapy with Hydrocortisone, Thyroxin and Testosterone was initiated.Tæplega áttræður karlmaður var lagður inn á sjúkrahús til endurhæfingar eftir aflimun á fæti þremur mánuðum fyrr. Vegna vöðvarýrnunar og slappleika var fyrirhugaðri þjálfun með gervilim frestað. Líðan sjúklings hrakaði jafnt og þétt og rannsóknir sýndu meiri lækkun á natríum í sermi. Uppvinnsla leiddi í ljós skort á heiladingulshormónum sem reyndist stafa af æxli í heiladingli. Eftir að uppbótarmeðferð með kortisóli, þýroxíni og testósteróni var hafin lagaðist ástand sjúklings til muna og natríumgildi leiðréttust

Icelandic coastal sea surface temperature records constructed: putting the pulse on air-sea-climate interactions in the northern North Atlantic. Part I: Comparison with HadISST1 open-ocean surface temperatures and preliminary analysis of long-term patterns and anomalies of SSTs around Iceland

A new comprehensive record of long-term Icelandic sea surface temperature measurements, which have been updated and filled in with reference to air temperature records, is presented. The new SST series reveal important features of the variability of climate in Iceland and the northern North Atlantic. This study documents site histories and possible resulting inconsistencies and biases, for example, changes in observing sites and instruments. A new 119-yr continuous time series for north Iceland SST is presented, which should prove particularly useful for investigating air-sea ice interactions around northern Iceland. As this is the only part of the country to be regularly engulfed by winter and/or spring sea ice, it is therefore highly sensitive to climatic change. The coastal series correlate well overall with independent Hadley Centre Sea Ice and SST dataset version 1 (HadISST1) series from the adjacent open ocean (mean r = 0.59), although correlations are generally higher in summer than winter and for south and east Iceland compared with the west and north. The seasonal temperature range is generally twice as large at the coastal sites because of differential effects of radiation, melting, mixing, and advection of warmer or colder air or water masses, as well as spatial resolution differences and smoothing in HadISST1. The long-term climatological averages and graphs for the 10 SST stations and/or their composites reveal decadal variations and trends that are generally similar to Icelandic air temperature records: a cold late-nineteenth-century, rapid warming around the 1920s, an overall warm peak circa 1940, cooling until an "icy" period circa 1970, followed by warming. Regional differences between sites include relatively greater (lesser) long-term variations for the eastern and southern (western and northern) Icelandic coasts, suggesting greater variability and influence of ocean current advection in the southeast. Moreover, Vestmannaeyjar SST data reveal that the late-nineteenth-century cold period in the ocean was not confined to the cold currents off north and east Iceland but also affected the south coast markedly. The Stykkishólmur, Iceland, SST record is relatively noisy and shows very little decadal variation, which may largely be due to fjord ice in cold winters suppressing low temperatures. It is anticipated that researchers may find these Icelandic SST series of practical use as a historic measure of air-sea-climate interactions around Iceland. © 2006 American Meteorological Society

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

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 FilesA meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa (P = 1.6 x 10(-7), 4.3 x 10(-9)) we used primary biliary cirrhosis as a proxy-phenotype for multiple sclerosis, the idea being that variants conferring risk of primary biliary cirrhosis have a prior probability of conferring risk of multiple sclerosis. We tested 255 variants forming the primary biliary cirrhosis-polygenic risk score and found seven multiple sclerosis-associating variants not correlated with any previously established multiple sclerosis variants. Most of the variants discovered are close to or within immune-related genes. One is a low-frequency missense variant in TYK2, another is a missense variant in MTHFR that reduces the function of the encoded enzyme affecting methionine metabolism, reported to be dysregulated in multiple sclerosis brain.Swedish Research Council Knut and Alice Wallenberg Foundation AFA Foundation Swedish Brain Foundatio

A 78 year-old man with hyponatremia, malaise and weight loss caused by a pituitary mass

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open Allur texti - Full textA 78 year-old male was admitted for rehabilitation after a trans-tibial amputation three months earlier. Scheduled training with a prosthetic leg was postponed due to muscle atrophy and weakness. As the patient's status deteriorated, blood results showed worsening hyponatremia.Work-up revealed pituitary insufficiency caused by a pituitary mass. The patient's general health improved greatly and the hyponatremia corrected after hormonal replacement therapy with Hydrocortisone, Thyroxin and Testosterone was initiated.Tæplega áttræður karlmaður var lagður inn á sjúkrahús til endurhæfingar eftir aflimun á fæti þremur mánuðum fyrr. Vegna vöðvarýrnunar og slappleika var fyrirhugaðri þjálfun með gervilim frestað. Líðan sjúklings hrakaði jafnt og þétt og rannsóknir sýndu meiri lækkun á natríum í sermi. Uppvinnsla leiddi í ljós skort á heiladingulshormónum sem reyndist stafa af æxli í heiladingli. Eftir að uppbótarmeðferð með kortisóli, þýroxíni og testósteróni var hafin lagaðist ástand sjúklings til muna og natríumgildi leiðréttust

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

Contains fulltext : 97569.pdf (publisher's version ) (Closed access)To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 x 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 x 10(-6)), glioma (OR = 2.35, P = 1.0 x 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 x 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27)