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A de novo alpha-synuclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an

We evaluated the feasibility and efficacy of using high-dose iodine-131-metaiodobenzylguanidine ((131)I-MIBG) followed by reduced-intensity conditioning (RIC) and transplantation of T cell-depleted haploidentical peripheral blood stem cells (designated haplo-SCT) to treat relapsing/refractory neuroblastoma (RRNB). Five RRNB patients were enrolled: 4 with relapse (3 after autologous SCT) and 1 with

The nonactivated prothrombin complex concentrate (PCC) Octaplex (Octapharma PPGmbH, Vienna, Austria) has been used successfully for the treatment of congenital and acquired coagulation factor deficiencies and associated bleeding. The aims of this study were to assess retrospectively whether Octaplex is an effective treatment option for haemophilia A patients with high-titre inhibitors of factor VI

The aim of this study was to report outcome and complications of endovascular therapy for visceral artery aneurysms (VAA).

BACKGROUND:: Trends in biologic fertility are elusive. Possible negative trends in male reproductive health are still debated, and their effect on human fertility might be negligible. Time-to-pregnancy (TTP) is a functional measure of couple fecundability. METHODS:: We analyzed data on TTP among 832,000 primiparous women 20 years of age and older in the nationwide Swedish Medical Birth Registry fr

OBJECTIVES: To investigate the reliability of a combined strategy of clinical assessment score followed by a local D-dimer test to exclude deep vein thrombosis. For comparison D-dimer was analysed post hoc and batchwise at a coagulation laboratory. DESIGN: Prospective multicenter management study. SETTING: Seven hospitals in southern Sweden. SUBJECTS: 357 patients with a suspected first episode of

Osteoporosis is a major health problem affecting more than 75 million people throughout Europe, USA and Japan. Epidemiological studies have determined that both genetic and environmental factors contribute to the pathogenesis of osteoporosis. We have investigated the association between polymorphisms at the osteocalcin locus and variables linked to bone health. Osteocalcin provides a link between

OBJECTIVES: We investigated whether menopausal vasomotor symptoms (VMS) are related to an adverse cardiovascular risk profile. Furthermore, we examined the association between estradiol levels and VMS, and whether an association between VMS and cardiovascular risk factors can be explained by estradiol levels. STUDY DESIGN: We used data from a Swedish population-based sample of 5857 women, aged 50-

Venous thromboembolism is a major medical problem, annually affecting 1 in 1000 individuals. It is a typical multifactorial disease, involving both genetic and circumstantial risk factors that affect a delicate balance between procoagulant and anticoagulant forces. In the last 50 years, the molecular basis of blood coagulation and the anticoagulant systems that control it have been elucidated. Thi

Macrophages have been shown to kill Mycobacterium tuberculosis through the action of the antimicrobial peptide cathelicidin (CAMP), whose expression was shown to be induced by 1,25-dihydroxyvitamin D3 (1,25D3). Here, we investigated in detail the antimycobacterial effect of murine and human cathelicidin against Mycobacterium smegmatis and M. bovis BCG infections. We have synthesized novel LL-37 pe

Although diffusion MRI has shown promise for the characterization of breast cancer, it has low specificity to malignant subtypes. Higher specificity might be achieved if the effects of cell morphology and molecular exchange across cell membranes could be disentangled. The quantification of exchange might thus allow the differentiation of different types of breast cancer cells. Based on differences

Sources of airborne particulate matter and their seasonal variation in urban areas in Sub-Saharan Africa are poorly understood due to lack of long-term measurement data. In view of this, filter samples of airborne particulate matter (particle diameter ?2.5 ?m, PM2.5) were collected between May 2008 and April 2010 at two sites (urban background site and suburban site) within the Nairobi metropolita

OBJECTIVE:: To outline the prevalence of nonhormonal drug use in middle-aged women and to assess plausible associations between serum androgen levels and variables associated to health such as drug use and planned visits to healthcare units. METHODS:: This was a population-based study of women aged 50 to 59 years (n = 6,893). Women were divided into three groups according to their menopause status

Billions of people are without access to surgical care, in part because of the inequitable distribution of the surgical workforce. Drawing on recently collected data for the number of surgeons, anaesthesiologists, and obstetricians worldwide, we sought to show their global maldistribution by identifying thresholds of surgical workforce densities, and by calculating the number of additional provide

BACKGROUND: Changes in P-wave morphology have recently been shown to be associated with interatrial conduction route used, without noticeable changes of P-wave duration. This study aimed at exploring the association between P-wave morphology and future atrial fibrillation (AF) development in the Multicenter Automatic Defibrillator Trial II (MADIT II) population. METHODS: Patients included in MADIT

Purpose – This paper presents a questionnaire study of brand-specific perceptions of automotive design using subjective rating methods. The purpose of the paper is to explore the multiple modalities of the visual product experience of automobile design as perceived by the general public. Furthermore, the experiences were analysed using a framework for visual product experience (VPE). Design/method

To examine age at onset of substance abuse in relation to other factors of relevance to criminal behavior, we compared Life History of Aggression (LHA) scores, traits of psychopathy according to the Psychopathy Checklist--Revised (PCL-R), and violent recidivism in 100 violent offenders with early (before the age of 18) versus late onset of abuse or dependence. Of 56 subjects with a history of alco