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Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis : How to Correctly Identify MODY8 Cases

Context: Maturity onset diabetes of the young, type 8 (MODY8) is associated with mutations in the CEL gene, which encodes the digestive enzyme carboxyl ester lipase. Several diabetes cases and families have in recent years been attributed to mutations in CEL without any functional or clinical evidence provided. Objective: To facilitate correct MODY8 diagnostics, we screened 2 cohorts of diabetes p

Vetenskapliga tidskrifter – ett lömskt problem för humaniora

Finansieringen av nationella vetenskapliga tidskrifter har blivit ett lömskt problem eller ett wicked problem inte bara för historia utan för humaniora i stort. Liksom andra lömska problem utmärks denna fråga av att själva problembeskrivningen är föränderlig, definitionerna undflyende samt att problemet är sammanvävt med andra komplexa problemområden. För en långsiktig lösning är det därför nödvän

The etiquette of bribes–learning, teaching and knowing

How are bribes supposed to be given or taken? In this article, we study how individuals from countries with low tolerance of corruption learn, teach others and present themselves as knowledgeable about the etiquette of bribes. This involves the social practices of everyday corruption and petty bribes when working as ’strangers’ in countries where such exchanges are more common. Previous interviews

Functional and structural impairments of the pulmonary system in middle-aged people with cervical and upper thoracic spinal cord injuries

OBJECTIVES: To describe functional and structural impairments of the pulmonary system in middle-aged people with cervical and upper thoracic spinal cord injuries (SCI), and compare findings to the general population. To determine if the neurological level of injury (NLI) is related to functional and structural impairments, and if age is related to structural impairments.DESIGN: Cross-sectional stu

Blodkomponenter och helblod – så framställs och används de

Krav på innehåll i blodkomponenter, virustest och kvalitetskriterier regleras i ett EU-direktiv och i Socialstyrelsens föreskrifter. Blodtransfusioner är en vanlig och viktig medicinsk behandling.Det saknas nationella riktlinjer för transfusionsindikationer och uppföljning av blodtransfusioner i Sverige.Det finns medicinsk evidens för en generellt restriktiv transfusionsstrategi.Vid stora blödning

Is mass screening for coeliac disease a wise use of resources? A health economic evaluation

Background: Living with undiagnosed symptomatic coeliac disease is connected with deteriorated health, and persons with coeliac disease often wait a long time for their diagnosis. A mass screening would lower the delay, but its cost-effectiveness is still unclear. Our aim was to determine the cost-effectiveness of a coeliac disease mass screening at 12 years of age, taking a life course perspectiv

Den praktiska teologin som professionsteori

Artikeln påminner svensk praktisk teologi om dess historiskt givna identitet samt visar att denna identitet härleds ur ett bestämt encyklopediskt sammanhang. Utgångspunkten för den encyklopediska bestämningen är att akademisk teologi är en i Schleiermachers mening positiv vetenskap, vars uppgift är att främja kyrka och kristendom. I denna positiva vetenskap har den praktiska teologin rollen av pro

A just transition towards a coal-free steel industry: perspectives from labour

Limiting global warming to ‘safe’ levels will require rapid and radical reductions of greenhouse gas emissions across all sectors of the global economy. The discontinuation of incumbent industrial structures, that will be an unavoidable part of such sustainability transitions, will disproportionally burden certain groups. Recent events including the social and political unrest linked to the immine

Accuracy of magnetic resonance imaging staging of tumour and nodal stage in rectal cancer treated by primary surgery : a population-based study

Aim: The preoperative stage of rectal cancer is an important prognostic factor affecting treatment recommendations. Currently, magnetic resonance imaging (MRI) is used for clinical staging to identify patients who should be recommended for neoadjuvant oncological treatment. The aim of this work was to investigate the accuracy of the preoperative T- and N-stage and also involvement of the mesorecta