Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia–pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L’s normal antiproliferative effect. This causes pancytopenia and generally

The tight junction protein claudin-4 has been reported to be overexpressed in advanced ovarian cancer. We investigated the prognostic significance of claudin-4 overexpression and whether claudin-4 expression could predict platinum response in primary ovarian carcinoma (OC). Claudin-4 expression was evaluated by immunohistochemistry in a tissue microarray of 140 OCs. Multivariable Cox-regression mo

Few prospective studies have examined the factor V paradox: factor V Leiden (FVL) is a stronger risk factor for deep venous thrombosis (DVT) than for pulmonary embolism (PE). The present study, to the best of our knowledge, is the first population-based study aimed to examine the relationship between FVL and incidence of venous thromboembolism (VTE), DVT and PE in a prospective cohort study of mid

The burden of depression and anxiety disorders is greater in women, and female sex hormones have been shown to affect mood. Psychological side effects of hormonal contraception (HC) are also a common complaint in the clinic, but few previous studies have investigated this subject. We therefore wanted to investigate whether use of HC was associated with adverse psychological health outcomes, and wh

Alkaline sphingomyelinase cleaves phosphocholine from sphingomyelin, platelet-activating factor, lysophosphatidylcholine, and less effectively phosphatidylcholine The enzyme shares no structure similarities with acid or neutral sphingomyelinase but belongs to ectonucleotide pyrophosphatase/phosphodiesterase (NPP) family and therefore is also called NPP7 nowadays. The enzyme is expressed in the int

Chronic handicap in early life may have a long-term impact on children's psychosocial well-being. Here, we investigated whether Brachialis Plexus Birth Injury (BPBI)-an unpredictable injury at birth-is associated with worse mental health later on, as indicated by prescription and use of psychotropic drugs in adolescence. We explored further whether this association is different depending on socioe

Läkares förmåga att tolka screeningresultat har visats vara bristande.Naturliga antal är ett format att presentera statistik på som kan underlätta den förmågan.Den här studien är först i Sverige att undersöka om naturliga antal förbättrar läkarstudenters förmåga att finna ett testresultats prediktiva värde.74 procent lyckades med uppgiften när naturliga antal användes, jämfört med 54 procent då gäThe ability to draw statistical inferences from test results may be generally limited among physicians. A new way of presenting statistics, called natural frequencies, has been shown to improve this ability. The current study is the first to investigate this effect in Sweden, involving senior medical students. An intra-individual cross-over design was used in which participants answered a statisti

Objective To evaluate variables associated with hemoglobin A1c (HbA1c) and weight reduction when adding liraglutide to persons with type 2 diabetes treated with multiple daily insulin injections (MDI). Research design and methods This was a reanalysis of a previous trial where 124 patients were enrolled in a double-blind, placebo-controlled, multicenter randomized trial carried out over 24 weeks.

The new estimates of the Maddison Project show that GDP per capita ratio at purchasing power parity (ppp) between Bolivia and Finland has changed from 0.68 ca. 1850 to 0.16 in 2015; similarly, that between Chile and Norway from 0.65 to 0.28. The aim of this article is to present a review of the literature and available quantitative evidence to understand how these extreme differences became possib

In Cell Reports, Christoffersen et al. [1] demonstrate that sphingosine 1-phosphate (S1P) bound to apolipoprotein M (apoM) regulates the activity and mass of brown adipose tissue (BAT). They found mice lacking apoM to have hyperactive BAT with high triglyceride (TG) utilization, resulting in low white adipose tissue (WAT) mass and low body weight.

Alzheimer’s disease (AD) is the most common form of dementia. Increased accumulations of senile plaques and tangles are the known neuropathological hallmarks of AD. However, the exact triggers for such protein accumulations, leading to cognitive impairment and important morphological alteration in AD, are still elusive. Ageing and genetic risk factors do not completely explain the global increase

En diskussion rörande 2 Piers och The Glass Bubble av konstnären och landskapsarkitekten Monika Gora. Verken diskuteras i förhållande till platsbegreppet och mot en bakgrund av teoretiker och konstnärer som Miwon Kwon, Maurice Merleau-Ponty, Rosalind Krauss, Robert Smithson och Ana Mendieta.

Eradication of methicillin-resistant Staphylococcus aureus (MRSA) colonisation may prevent transmission of strains between patients and reduces the risk of clinical infection. Colonisation of the throat is associated with prolonged carriage and is more difficult to eradicate. An open randomised study was conducted to evaluate two eradication protocols. Patients with pharyngeal carriage of MRSA wer

Aim: The aim of this study was to evaluate the extent of white matter lesions, atrophy of the hippocampus and corpus callosum, and their correlation with cognitive dysfunction (CD), in patients diagnosed with systemic lupus erythematosus (SLE). Methods: Seventy SLE patients and 25 healthy individuals (HIs) were included in the study. To evaluate the different SLE and neuropsychiatric SLE (NPSLE) d