Collecting a set of psoriasis family material through a patient organisation; clinical characterisation and presence of additional disorders

BACKGROUND: The aim of the present study was to describe the clinical characteristics of a population of psoriatics sampled from a patient organisation and not from hospitals or out-patient clinics. Furthermore, we wanted to compare siblings with and without psoriasis regarding the occurrence of other diseases. METHODS: At the end of 1991, we initiated a project which aimed to study genetic factors leading to psoriasis. Firstly, we sent questionnaires to all the members of the Swedish Psoriasis Association. We then examined 1,217 individuals (570 with psoriasis) from 310 families, in their homes in the southern part of Sweden. All the available family members were examined clinically and asked about the course of the skin disease and the occurrence of other diseases. The eight hundred members of the proband generation were divided into two groups, with or without psoriasis, and their clinical features were compared. RESULTS: Most individuals in this study population had a mild form of psoriasis. The siblings with psoriasis had joint complaints significantly more frequently than their siblings without the skin disease and those with joint complaints had more widespread skin disease. Among the other studied concomitant diseases (iritis, heart or hypertension disease, endocrine disease, inflammatory bowel disease and neurological disease), we were not able to find any difference. Seventy-seven of 570 persons were found to be in remission (13.5%). Females had a mean onset 2.5 years earlier than males. We were not able to find any correlation between the extent of the skin disease and age at onset. Twice as many persons with joint complaints were found among those with psoriasis than among those without, 28% versus 13%. Almost half (48%) the psoriatics who also had joint complaints had psoriasis lesions on their nails. Endocrine disorders were found in 9% of those without any allele for Cw6, but only in 1% of those who had Cw6. In fact, none of 183 Cw6 carriers had diabetes, as compared to the population prevalence of 3–5% in Sweden. CONCLUSION: With the exception of joint complaints, persons with psoriasis, collected from a patient organisation, did not have an increased frequency of (studied) co-existing diseases

Genetic variants for head size share genes and pathways with cancer

The size of the human head is determined by growth in the first years of life, while the rest of the body typically grows until early adulthood1. Such complex developmental processes are regulated by various genes and growth pathways2. Rare genetic syndromes have revealed genes that affect head size3, but the genetic drivers of variation in head size within the general population remain largely unknown. To elucidate biological pathways underlying the growth of the human head, we performed the largest genome-wide association study on human head size to date (N = 79,107). We identified 67 genetic loci, 50 of which are novel, and found that these loci are preferentially associated with head size and mostly independent from height. In subsequent neuroimaging analyses, the majority of genetic variants demonstrated widespread effects on the brain, whereas the effects of 17 variants could be localized to one or two specific brain regions. Through hypothesis-free approaches, we find a strong overlap of head size variants with both cancer pathways and cancer genes. Gene set analyses showed enrichment for different types of cancer and the p53, Wnt and ErbB signalling pathway. Genes overlapping or close to lead variants – such as TP53, PTEN and APC – were enriched for genes involved in macrocephaly syndromes (up to 37-fold) and high-fidelity cancer genes (up to 9-fold), whereas this enrichment was not seen for human height variants. This indicates that genes regulating early brain and cranial growth are associated with a propensity to neoplasia later in life, irrespective of height. Our results warrant further investigations of the link between head size and cancer, as well as its clinical implications in the general population

ADAM33, a New Candidate for Psoriasis Susceptibility

Psoriasis is a chronic skin disorder with multifactorial etiology. In a recent study, we reported results of a genome-wide scan on 46 French extended families presenting with plaque psoriasis. In addition to unambiguous linkage to the major susceptibility locus PSORS1 on Chromosome 6p21, we provided evidence for a susceptibility locus on Chromosome 20p13. To follow up this novel psoriasis susceptibility locus we used a family-based association test (FBAT) for an association scan over the 17 Mb candidate region. A total of 85 uncorrelated SNP markers located in 65 genes of the region were initially investigated in the same set of large families used for the genome wide search, which consisted of 295 nuclear families. When positive association was obtained for a SNP, candidate genes nearby were explored more in detail using a denser set of SNPs. Thus, the gene ADAM33 was found to be significantly associated with psoriasis in this family set (The best association was on a 3-SNP haplotype P = 0.00004, based on 1,000,000 permutations). This association was independent of PSORS1. ADAM33 has been previously associated with asthma, which demonstrates that immune system diseases may be controlled by common susceptibility genes with general effects on dermal inflammation and immunity. The identification of ADAM33 as a psoriasis susceptibility gene identified by positional cloning in an outbred population should provide insights into the pathogenesis and natural history of this common disease

Genetic Variants For Head Size Share Genes and Pathways With Cancer

The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer

Perioperative events influence cancer recurrence risk after surgery.

Surgery is a mainstay treatment for patients with solid tumours. However, despite surgical resection with a curative intent and numerous advances in the effectiveness of (neo)adjuvant therapies, metastatic disease remains common and carries a high risk of mortality. The biological perturbations that accompany the surgical stress response and the pharmacological effects of anaesthetic drugs, paradoxically, might also promote disease recurrence or the progression of metastatic disease. When cancer cells persist after surgery, either locally or at undiagnosed distant sites, neuroendocrine, immune, and metabolic pathways activated in response to surgery and/or anaesthesia might promote their survival and proliferation. A consequence of this effect is that minimal residual disease might then escape equilibrium and progress to metastatic disease. Herein, we discuss the most promising proposals for the refinement of perioperative care that might address these challenges. We outline the rationale and early evidence for the adaptation of anaesthetic techniques and the strategic use of anti-adrenergic, anti-inflammatory, and/or antithrombotic therapies. Many of these strategies are currently under evaluation in large-cohort trials and hold promise as affordable, readily available interventions that will improve the postoperative recurrence-free survival of patients with cancer

Työhyvinvointia ja potilasturvallisuutta edistävien interventioiden vaikutukset hoitotyössä:kirjallisuuskatsaus

Kirjallisuuskatsauksen tarkoituksena oli kuvata hoitohenkilöstön työhyvinvointiin ja potilasturvallisuuteen kehitettyä interventioita ja niiden vaikutuksia työhyvinvointiin ja potilasturvallisuuteen. Tutkimuksen tavoitteena oli tuottaa tietoa, jota voidaan hyödyntää terveydenhuollon organisaatioissa edistämään henkilöstön tietoisuutta työhyvinvoinnin ja potilasturvallisuuden välisestä yhteydestä. Hoitotyö on moniammatillista yhteistyötä, joten aihetta käsitellään koko hoitohenkilöstön näkökulmasta. Kirjallisuuskatsauksen tiedonhaku toteutettiin tietokannoissa Medic, CINAHL ja Scopus. Tutkimuskysymyksen ohjaamien hakusanojen avulla tietokannoista löytyi yhteensä 339 artikkelia, joista sisäänotto- ja poissulkukriteerien avulla valikoitui 5 tutkimuskysymykseen vastaavaa vertaisarvioitua alkuperäistutkimusta. Aineiston analyysi toteutettiin induktiivisen sisällönanalyysin avulla. Työhyvinvointia ja potilasturvallisuutta edistävien interventioiden vaikutukset moniammatilliseen yhteistyöhön ja työolosuhteisiin olivat seuraavanlaiset: työhyvinvointi edistyi koetun kohentuneen tiimistyön, parantuneen kommunikaation, ryhmän tehokkuuden ja kohentuneiden ammattitaitojen avulla. Yhteisten pelisääntöjen ja toimintatapojen kehittäminen edisti myös kokemuksia kohentuneesta työhyvinvoinnista. Interventioiden vaikutus kohentuneeseen tietoisuuteen potilasturvallisuuden ja työhyvinvoinnin välisestä suhteesta hoitotyössä sekä kommunikaation ja toimintatapojen parantumisen koettiin edistävän potilasturvallisuutta. Hoitohenkilöstön tietoisuutta potilasturvallisuuden ja työhyvinvoinnin välisestä merkityksestä hoitotyössä on edistettävä koko organisaation tasolla. Koko hoitohenkilöstö ja johto on valmennettava ja otettava mukaan muutokseen. Työhyvinvoinnin ja potilasturvallisuuden edistäminen on sidottava koko organisaation tavoitteeksi, yhteisten pelisääntöjen ja toimintatapojen kehittämisen avulla. Tarvitaan kuitenkin kokonaisvaltaisempaa tietoa potilasturvallisuuden ja työhyvinvoinnin välisestä yhteydestä organisaatiossa. Hoitohenkilöstön kokemusten analysoinnin lisäksi tarvitaan potilaiden kokemusten analysointia ja ilmiöiden seuranta erilaisten tietojärjestelmien avulla, joka luo paremmat edellytykset kehittää konkreettisia räätälöityjä toimia organisaatiossa