Pancreatic mass leading to left-sided portal hypertension, causing bleeding from isolated gastric varices.

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.Mucinous cystic neoplasms (MCN) are an uncommon form of exocrine neoplasms of the pancreas. Symptoms are most often vague and this makes the diagnosis more difficult. The current case is one of three cases yet reported where the MCN caused left-sided portal hypertension leading to the formation of isolated gastric varices and subsequent bleeding from the varices. In the previously reported cases the main symptom was hematemesis. However in the current case the patient experienced no hematemesis, only isolated incidents of dark coloured diarrhea, but the main symptoms were those of iron-deficiency anemia. We present the case report of a 34-year-old woman who presented with dizziness and lethargy and was found to have 12 cm MCN in the pancreas

The impact of tumour size on the probability of synchronous metastasis and survival in renal cell carcinoma patients: a population-based study.

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 observed low metastatic potential and favorable survival of small incidentally detected renal cell carcinomas (RCCs) have been a part of the rationale for recommending partial nephrectomy as a first treatment option and active surveillance in selected patients. We examined the relationship between tumor size and the odds of synchronous metastases (SMs) (primary outcome) and disease specific survival (secondary outcome) in a nationwide RCC registry.Retrospective study of the 794 RCC patients diagnosed in Iceland between 1971 and 2005. Histological material and TNM staging were reviewed centrally. The presence of SM and survival were recorded. Cubic spline analysis was used to assess relationship between tumor size and probability of SM. Univariate and multivariate statistics were used to estimate prognostic factors for SM and survival.The probability of SM increased in a non-linear fashion with increasing tumor size (11, 25, 35, and 50%) for patients with tumors of ≤4, 4.1-7.0, 7.1-10.0, and >10 cm, respectively. On multivariate analysis, tumor size was an independent prognostic factor for disease-specific survival (HR = 1.05, 95% CI 1.02-1.09, p < 0.001), but not for SM.Tumor size affected the probability of disease-specific mortality but not SM, after correcting for TNM staging in multivariate analysis. This confirms the prognostic ability of the 2010 TNM staging system for renal cell cancer in the Icelandic population.Landspitali University Hospital Scientific Foundation Memorial Foundation of Bergthora Magnusdottir and Jakob J. Bjarnaso

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

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 FilesBackground: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case presentation: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. We assessed all coding and splicing variants, prioritizing variants in genes known to cause interstitial lung disease. We detected a heterozygous missense mutation, p.Glu241Lys, in the COPA gene, private to the affected family members. The mutation occurred de novo in the paternal germline of the index case and was absent from 30,067 Icelandic genomes and 141,353 individuals from the genome Aggregation Database (gnomAD). The mutation occurs within the conserved and functionally important WD40 domain of the COPA protein. Conclusions: This is the second report of the p.Glu241Lys mutation in COPA, indicating the recurrent nature of the mutation. The mutation was reported to co-segregate with COPA syndrome in a large family from the USA with five affected members, and classified as pathogenic. The two separate occurrences of the p.Glu241Lys mutation in cases and its absence from a large number of sequenced genomes confirms its role in the pathogenesis of the COPA syndrome

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldPreviously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20 markers from the combined analysis in several European case-control sample sets, with a total of 4,739 cases and 45,549 controls. The T allele of rs798766 on 4p16.3 was found to associate with UBC (odds ratio = 1.24, P = 9.9 x 10(-12)). rs798766 is located in an intron of TACC3, 70 kb from FGFR3, which often harbors activating somatic mutations in low-grade, noninvasive UBC. Notably, rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors. The frequency of rs798766[T] is higher in Ta tumors that carry an activating mutation in FGFR3 than in Ta tumors with wild-type FGFR3. Our results show a link between germline variants, somatic mutations of FGFR3 and risk of UBC.info:eu-repo/grantAgreement/EC/FP7/21807

Correspondence; author(s) include A.R. Harman, Edward W. Wallington; recipient(s) include Alfred Deakin

To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldOBJECTIVE: To evaluate the clinical behaviour and pathology of renal oncocytoma in a well-defined population over a 30-year period. PATIENTS AND METHODS: In a retrospective population-based study we assessed relevant clinical and pathological factors in 45 patients (31 men and 14 women) diagnosed with renal oncocytoma in Iceland between 1971 and 2000. Clinical presentation, pathology, survival and causes of death were evaluated. RESULTS: The age-standardized incidence was 0.3 per 100,000 per year for both men and women, the incidence of oncocytomas being 5.5% of renal cell carcinomas (RCCs) diagnosed during the same period in Iceland. Fourteen patients were diagnosed at autopsy for an unrelated disease. Of 31 living patients (mean age 70.5 years), seven were diagnosed incidentally (23%), and the others had presented with haematuria (32%), abdominal pain (29%), and weight loss (10%). All the patients had a radical nephrectomy, except for one with bilateral oncocytoma who had a partial nephrectomy. The mean (range) tumour size was 5.7 (0.9-12) cm. Eighteen patients (58%) were diagnosed at Tumour-Node-Metastasis stage I, 10 at stage II (32%) and three at stage III (10%), all of those at stage III having renal capsular penetration or tumour invasion into perirenal fat tissue (T3aN0M0). No patients were diagnosed with lymph node or distant metastasis. Two cases of coexisting RCC were detected. After a median follow-up of 8.3 years there were no recurrences or deaths from oncocytoma (100% disease-specific survival). The overall 5-year survival was 63%, with most patients dying from cardiovascular diseases or nonrenal cancers. CONCLUSIONS: In most cases renal oncocytoma behaves like a benign tumour; the long-term prognosis is excellent. Thus, in the present patients, radical nephrectomy could be regarded as an over-treatment and nephron-sparing surgery as more appropriate, especially in patients with small tumours. However, both coexisting RCC and perirenal fat invasion, a hallmark of malignant behaviour, might indicate that more radical surgery is warranted in some of these patients

Cardiac myxoma in Iceland: a case series with an estimation of population incidence.

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field.Cardiac myxoma (CM) is the most common primary benign tumor of the heart, but the true age-standardized incidence rate (ASR) has remained unknown. We therefore used nationwide registries in Iceland to study CM and establish its incidence rate. This was a retrospective study involving all patients diagnosed with CM in Iceland between 1986 and 2010. Cases were identified through three different registries, and hospital charts and histology results reviewed. An ASR was estimated based on a world standard population (w). Nine cases of CM (six women) were identified with a mean age of 62.8 years (range: 37-85), giving an ASR of 0.11 (95% CI: 0.05-0.22) per 100,000. The mean tumor size was 4.4 cm (range: 1.5-8.0) with all the tumors located in the left atrium. Dyspnea (n = 6) and ischemic stroke (n = 2) were the most common symptoms. All patients underwent complete resection of the tumor and there were no postoperative deaths or CM-related deaths at follow-up (mean 85 months). The ASR of CM in Iceland was 0.11 per 100,000. To our knowledge, this is the first study to determine the incidence of CM in an entire population. In Iceland, the presenting symptoms and mode of detection of CM are similar to those in other series

Australian Inland Mission Old Timers Homes, Birdsville, with the roof damaged, Queensland, ca. 1969 [transparency] /

Location identified from sign in image.; Mould spots.; Part of The Reverend Andrew Leslie McKay collection of photographs relating to Inland Australia, 1950-1976.; This location also appears in PIC/9193/624, 637, 638 and 639.; Also available in an electronic version via the internet at: http://nla.gov.au/nla.pic-vn4181545; Collection donated by Mrs Lyn McKay, widow of Reverend Les McKay, through their daughter Dr. Judith McKay

Protein expression within the human renal cortex and renal cell carcinoma: The implication of cold ischemia

To access Publisher full text version of this article. Please click on the hyperlink in Additional LinkCold ischemia of tissue during tissue treatment may influence protein expression, but has not been well studied. Better understanding of this is fundamental prior to using stored fresh-frozen tissue where the time from organ harvest until tissue collection and storage is most often not documented. We collected samples from normal renal cortex and cancerous tissues at serial time points for up to 60 min from three nephrectomized individuals with newly diagnosed clear cell renal cell carcinoma (RCC). Samples were processed onto protein chips and identified using surface-enhanced laser desorption/ionization- time of flight mass spectrometry (SELDI). The number and size of proteins expressed at separate sites within homogenous tissue sections were comparable. Cold ischemia time neither affected the number nor the size of proteins expressed. While the quantity of most proteins was similar between separate sites and unaffected by cold ischemia time, we noted variation in the quantity of some proteins compared to duplicate measurements. Such variation was noted between separate samples collected at same cold ischemia time points. Taken together, these data indicate that cold ischemia time for up to 60 min does not influence the number or size of proteins expressed within renal tissue. © Mary Ann Liebert, Inc