Publications by authors named "Jonasson J"

Background: Impact of Merkel cell polyomavirus (MCPyV) associated Merkel cell carcinoma (MCC) has not been assessed in the Icelandic population, nor in a whole population elsewhere.

Objectives: The primary objective was to assess trends in the incidence of MCC in Iceland and the association with MCPyV. Secondary objectives aimed to analyze MCC outcomes.

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  • Researchers analyzed genetic data from nearly 130,000 cancer patients and over 730,000 healthy controls to identify variants linked to cancer risk across 22 cancer types.
  • Four high-risk genes were found: BIK (prostate cancer), ATG12 (colorectal cancer), TG (thyroid cancer), and CMTR2 (lung cancer and melanoma).
  • Additionally, two genes, AURKB (general cancer risk) and PPP1R15A (breast cancer), were associated with decreased cancer risk, indicating potential pathways for cancer prevention strategies.
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Background: Melanoma is increasing worldwide, with incidence rates of invasive melanoma and melanoma in situ (MIS) varying by country.

Objective: To provide updated invasive melanoma and MIS incidence and mortality trends in Iceland and explore differences among sex and rurality.

Methods: In this whole-population study using the Icelandic Cancer Registry, patients diagnosed with invasive melanoma or MIS between 1957 and 2021 were included.

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Electrolytic bicarbonate conversion holds the promise to integrate carbon capture directly with electrochemical conversion. Most research has focused on improving the faradaic efficiencies of the system, however, the stability of the system has not been thoroughly addressed. Here, we find that the bulk electrolyte pH has a large effect on the selectivity, where a higher pH results in a lower selectivity.

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Background: Individuals with type 2 diabetes (T2D) are at increased risk of developing cardiovascular disease (CVD) which necessitates monitoring of risk factors and appropriate pharmacotherapy. This study aimed to identify factors predicting emergency department visits, hospitalizations, and mortality among T2D patients after being newly diagnosed with CVD.

Methods: In a retrospective observational study conducted in Region Halland, individuals aged > 40 years with T2D diagnosed between 2011 and 2019, and a new diagnosis of CVD between 2016 and 2019, were followed for one year from the date of CVD diagnosis.

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Estrogen receptor-positive (ER+) breast cancer generally confers a more favorable prognosis than ER-negative cancer, however, a different picture is emerging for BRCA2 mutation carriers and young patients. We used nationwide data from population-based registries to study prognostic effects in those two groups. Of all 2817 eligible women diagnosed with breast cancer in Iceland during 1980-2004, 85% had been tested for the Icelandic 999del5 BRCA2 (c.

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  • Keratinocyte carcinoma (KC) is the most common type of skin cancer, but its effects on survival aren't well understood.
  • This study looked at how two types of KC, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC), affect survival in people from Iceland.
  • The results showed that BCC usually doesn't affect survival much, but SCC can be more dangerous, especially for younger people under 50.
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Background: The TNM system is used to assess prognosis after colorectal cancer (CRC) diagnosis. Other prognostic factors reported include histopathological assessments of the tumour, tumour mutations and proteins in the blood. As some of these factors are strongly correlated, it is important to evaluate the independent effects they may have on survival.

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This study documents more than five years of analysis that drove the policy case, deployment, and retrospective evaluation for an innovative service model that enables Boston Emergency Medical Services (EMS) to respond quickly and effectively to investigation incidents in an area of heavy need in Boston. These investigation incidents are typically calls for service from passers-by or other third-party callers requesting that Boston EMS check in on individuals, often those who may appear to have an altered mental status or to be unhoused. First, this study reports the pre-intervention analytics in 2017 that built the policy case for service segmentation, a new Community Assistance Team designated "Squad 80" that primarily responds to investigation incidents in one broad area of the city with high rates of substance abuse and homelessness, helping patients who often refuse ambulance transport connect to social services.

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Introduction: Tuberculosis (TB) is a global health emergency and low treatment adherence among patients is a major barrier to ending the TB epidemic. The WHO promotes digital adherence technologies (DATs) as facilitators for improving treatment adherence in resource-limited settings. However, limited research has investigated whether DATs improve outcomes for high-risk patients (ie, those with a high probability of an unsuccessful outcome), leading to concerns that DATs may cause intervention-generated inequality.

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Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide the first study of exome data from formalin-fixed paraffin-embedded samples (FFPE) paired with data from high-quality blood samples in forensic applications.

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Introduction: Cancers in the liver, bile duct system, gallbladder as well as metastases of the liver, have poor prognosis. Their treatment is comparable, with surgery being the most widespread, available curative treatment. Surgical treatment is anatomical or non-anatomical resection of the liver where the tumor and the adjacent liver tissue are removed.

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AbstractGeneration time is a measure of the pace of life and is used to describe processes in population dynamics and evolution. We show that three commonly used mathematical definitions of generation time in age-structured populations can produce different estimates of up to several years for the same set of life history data. We present and prove a mathematical theorem that reveals a general order relation among the definitions.

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  • * A study on familial cholangiocarcinoma revealed that affected family members share a specific mutation in the ATG7 gene, which is essential for starting autophagy and forming autophagosomes.
  • * Experiments showed that the mutations in ATG7 hinder its ability to eliminate cellular waste, ultimately increasing the risk of developing cholangiocarcinoma due to impaired autophagy function.
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Background & Aims: Small intestinal neuroendocrine tumours (SI-NETs) are the most frequent malignant tumours of the small intestine. Population based studies on SI-NETs are scarce. We aimed to examine the incidence, presentation of disease and prognosis of SI-NET and to determine patient prognosis in those undergoing emergency or elective surgery.

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Optical microscopy has long been the gold standard to analyse tissue samples for the diagnostics of various diseases, such as cancer. The current diagnostic workflow is time-consuming and labour-intensive, and manual annotation by a qualified pathologist is needed. With the ever-increasing number of tissue blocks and the complexity of molecular diagnostics, new approaches have been developed as complimentary or alternative solutions for the current workflow, such as digital pathology and mass spectrometry imaging (MSI).

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A majority of studies reporting human genetic variants were performed in populations of European ancestry whereas other global populations, and particularly many ethnolinguistic groups in other continents, are heavily underrepresented in these studies. To investigate the extent of this disproportionate representation of global populations concerning variants of significance to thrombosis and hemostasis, 845 single nucleotide polymorphisms (SNPs) in and around 34 genes associated with thrombosis and hemostasis and included in the commercial Axiom Precision Medicine Research Array (PMRA) were evaluated, using gene frequencies in 3 African (Somali and Luhya in East Africa, and Yoruba in West Africa) and 14 non-African (admixed American, East Asian, European, South Asian, and sub-groups) populations. Among the populations studied, Europeans were observed to be the best represented population by the hemostatic SNPs included in the PMRA.

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Purpose: Universal screening for Lynch syndrome (LS) on resected colorectal carcinomas (CRCs) and endometrial carcinomas (ECs) was implemented in Iceland in 2017 using immunohistochemistry (IHC) for mismatch repair (MMR) proteins. We examined the efficacy of the universal screening algorithm to detect LS and the diagnostic accuracy of MMR IHC by comparing results with a population-based genotype database.

Methods: All patients diagnosed with CRC or EC per the Icelandic Cancer Registry from 2017 to 2019 who had tumor MMR IHC performed were included.

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Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense variants with a complete deficit of homozygosity and find that their pathogenic effect in homozygous state ranges from severe childhood disease to early embryonic lethality.

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Metabolites, especially lipids, have been shown to be promising therapeutic targets. In conjugation with genes and proteins they can be used to identify phenotypes of disease and support the development of targeted treatments. The majority of clinically collected tissue samples are stored in formalin-fixed and paraffin embedded (FFPE) blocks due to their tissue conservation ability and indefinite storage capacity.

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