626 results match your criteria Kugelberg Welander Spinal Muscular Atrophy
BMC Neurol 2018 Sep 29;18(1):160. Epub 2018 Sep 29.
Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Ögonklinik A Kioskgatan 1, SE-221 85, Lund, Sweden.
Background: To investigate visual recovery after treatment of acute optic neuritis (ON) with either oral or intravenous high-dose methylprednisolone, in order to establish the best route of administration.
Methods: Retrospective analysis of patients treated with oral or intravenous high-dose (≥500 mg per day) methylprednisolone for acute ON of unknown or demyelinating etiology. Twenty-eight patients were included in each treatment group. Read More
Eur J Ophthalmol 2018 Sep 12:1120672118799623. Epub 2018 Sep 12.
1 St. Erik Eye Hospital, Stockholm, Sweden.
Purpose: To evaluate the long-term outcome after cataract surgery with primary intraocular lens implantation in children with juvenile idiopathic arthritis-associated uveitis.
Methods: The medical records of all 24 children (34 eyes) with chronic juvenile idiopathic arthritis-associated uveitis who underwent cataract surgery between 1990 and 2013 were reviewed retrospectively. Primary intraocular lens implantation was performed in all patients. Read More
Methods Mol Biol 2018 ;1828:57-68
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in SMN1 that stops production of SMN (survival of motor neuron) protein. Insufficient levels of SMN results in the loss of motor neurons, which causes muscle weakness, respiratory distress, and paralysis. A nearly identical gene (SMN2) contains a C-to-T transition which excludes exon 7 from 90% of the mature mRNA transcripts, leading to unstable proteins which are targeted for degradation. Read More
Clin Toxicol (Phila) 2018 Jul 13:1-2. Epub 2018 Jul 13.
f Swedish Poisons Information Centre , Stockholm , Sweden.
Pharmacol Res Perspect 2018 07 5;6(4):e00419. Epub 2018 Jul 5.
Department of Forensic Genetics and Forensic Toxicology National Board of Forensic Medicine Linköping Sweden.
Tramadol is a complex drug, being metabolized by polymorphic enzymes and administered as a racemate with the (+)- and (-)-enantiomers of the parent compound and metabolites showing different pharmacological effects. The study aimed to simultaneously determine the enantiomer concentrations of tramadol, -desmethyltramadol, -desmethyltramadol, and -didesmethyltramadol following a single dose, and elucidate if enantioselective pharmacokinetics is associated with the time following drug intake and if interindividual differences may be genetically explained. Nineteen healthy volunteers were orally administered either 50 or 100 mg tramadol, whereupon blood samples were drawn at 17 occasions. Read More
Mol Imaging Biol 2018 Jun 28. Epub 2018 Jun 28.
PROFITH "PROmoting FITness and Health through physical activity" Research Group, Department of Physical and Sports Education, Faculty of Sports Science, University of Granada, Carretera de Alfacar, s/n, 18071, Granada, Spain.
Purpose: Near-infrared spectroscopy (NIRS) has recently been proposed as an indirect technique to assess brown adipose tissue (BAT) in young men. NIRS arises as a novel technique to avoid the limitations of the "gold-standard" 2-deoxy-2-[F]fluoro-D-glucose ([F]DG) positron emission tomography combined with X-ray computed tomography (PET/CT). The aim of this study was to examine the association between near-infrared spatially resolved spectroscopy (NIR) parameters and BAT volume and activity estimated by [F]DG-PET/CT in 18 young healthy women. Read More
J Anal Toxicol 2018 Nov;42(9):587-591
Department of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, Rome, Italy.
This article reports the concentrations of gamma-hydroxybutyrate (GHB) in femoral blood and bladder urine in a case series of drug intoxication deaths (N = 37). GHB was determined in blood (B-GHB) and urine (U-GHB) by a GC-FID-GBL method and 30 mg/L was used as a cut-off concentration for reporting positive results. The mean (median) and range of GHB concentrations in bladder urine were 2,818 mg/L (1,900 mg/L) and 120-13,000 mg/L, respectively. Read More
Behav Res Methods 2018 Jun 4. Epub 2018 Jun 4.
Neuromotor Behavior Laboratory, Department of Psychology and Sport Science, Justus-Liebig-University Giessen, Kugelberg 62, 35394, Giessen, Germany.
In the analysis of continuous data, researchers are often faced with the problem that statistical methods developed for single-point data (e.g., t test, analysis of variance) are not always appropriate for their purposes. Read More
Acta Ophthalmol 2018 Sep 25;96(6):592-599. Epub 2018 Mar 25.
Department of Clinical Neuroscience, Division of Ophthalmology and Vision, Karolinska Institutet, St. Erik Eye Hospital, Stockholm, Sweden.
Purpose: To study associations between intraoperative difficulties and changes in patient-perceived and postoperative visual function and visual satisfaction after cataract surgery.
Methods: Swedish multicenter, prospective, cross-sectional, nonrandomized, National Cataract Register study. A total of 10 979 patients (n = 10 979) who underwent cataract surgery from 2008 to 2011 completed the Catquest-9SF questionnaire before and 3 months postoperatively. Read More
Handb Clin Neurol 2018 ;148:591-601
Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. Electronic address:
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport. Cell culture and animal models have helped to define the disease mechanism and to identify targets for therapeutic intervention. Read More
Acta Ophthalmol 2018 Sep 20;96(6):582-585. Epub 2018 Feb 20.
St. Erik Eye Hospital, Department of Clinical Neuroscience, Division of Ophthalmology and Vision, Karolinska Institutet, Stockholm, Sweden.
Purpose: To explore the relationship between acquisition of new spectacles after routine cataract surgery and vision-related activity limitation (VRAL) postoperatively.
Methods: This cohort study with intervention (survey) included 1329 patients in Sweden who had undergone a second-eye cataract surgery during March 2013. Data from the Swedish National Cataract Register were used, including evaluations of VRAL through the Catquest-9SF questionnaire before and 3 months after cataract surgery. Read More
Psychol Res 2018 Jan 20;82(1):167-176. Epub 2017 Oct 20.
Institute of Sport Science, Justus Liebig University, Kugelberg 58, 35394, Giessen, Germany.
Motor and cognitive tasks often interfere when performed concurrently. The amount of interference typically scales with difficulty of the tasks involved. Thus, supposedly 'easy' motor tasks with restricted movement amplitude, like sitting on a chair, should show little or no interference with cognitive tasks at all. Read More
J Autism Dev Disord 2018 Jan;48(1):1-11
Institute for Sports Science, Justus Liebig University Giessen, Kugelberg 62, 35394, Giessen, Germany.
One major characteristic of autism spectrum disorder (ASD) is problems with social interaction and communication. The present study explored ASD-related alterations in perceiving emotions expressed via body movements. 16 participants with ASD and 16 healthy controls observed video scenes of human interactions conveyed by point-light displays. Read More
Acta Ophthalmol 2018 May 31;96(3):283-287. Epub 2017 Aug 31.
St. Erik Eye Hospital, Stockholm, Sweden.
Purpose: To explore patients' obtaining and use of spectacles after routine cataract surgery.
Methods: The study included 1329 patients who underwent bilateral surgery with the second eye operated during March 2013 at 38 different clinics in Sweden. Five months after the second-eye surgery, patients completed a five-item questionnaire about their spectacle use preoperatively and postoperatively. Read More
Int J Behav Nutr Phys Act 2017 08 29;14(1):116. Epub 2017 Aug 29.
Department of Movement and Sport Sciences, Ghent University, Watersportlaan 2, 9000, Ghent, Belgium.
Background: The ToyBox-intervention is a theory- and evidence-based intervention delivered in kindergartens to improve four- to six-year-old children's energy balance-related behaviours and prevent obesity. The current study aimed to (1) examine the effect of the ToyBox-intervention on increasing European four- to six-year-old children' steps per day, and (2) examine if a higher process evaluation score from teachers and parents was related to a more favourable effect on steps per day.
Methods: A sample of 2438 four- to six-year-old children (51. Read More
Exp Brain Res 2017 11 24;235(11):3479-3486. Epub 2017 Aug 24.
Neuromotor Behavior Laboratory, Department of Psychology and Sport Science, Justus-Liebig-University Giessen, Kugelberg 62, 35394, Giessen, Germany.
Task difficulty affects both gaze behavior and hand movements. Therefore, the present study aimed to investigate how task difficulty modulates gaze behaviour with respect to the balance between visually monitoring the ongoing action and prospectively collecting visual information about the future course of the ongoing action. For this, we examined sequences of reach and transport movements of water glasses that differed in task difficulty using glasses filled to different levels. Read More
Nat Rev Immunol 2017 May 19;17(5):279. Epub 2017 Apr 19.
Orphanet J Rare Dis 2017 04 11;12(1):67. Epub 2017 Apr 11.
Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
Background: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. Read More
Forensic Sci Int 2017 Jun 7;275:76-82. Epub 2017 Mar 7.
Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden; Department of Medical and Health Sciences, Division of Drug Research, Linköping University, Linköping, Sweden.
Introduction: 3-methoxyphencyclidine (3-MeO-PCP) appeared on the illicit drug market in 2011 and is an analogue of phencyclidine, which exhibits anesthetic, analgesic and hallucinogenic properties. In this paper, we report data from a non-fatal intoxication and seven deaths involving 3-MeO-PCP in Sweden during the period March 2014 until June 2016.
Case Descriptions: The non-fatal intoxication case, a 19-year-old male with drug problems and a medical history of depression, was found awake but tachycardic, hypertensive, tachypnoeic and catatonic at home. Read More
Eur J Appl Physiol 2017 Mar 21;117(3):591-605. Epub 2017 Feb 21.
Department of Sports Medicine, Justus-Liebig-University, Kugelberg 62, 35394, Giessen, Germany.
Purpose: The purpose of this double-blind, randomized, placebo-controlled clinical trial was to investigate the effects of the natural combination medicine Traumeel (Tr14) consisting of 14 diluted biological and mineral components on the inflammatory immune response and recovery up to 72 h after repetitive bouts of bicycle tests.
Methods: Antigen-stimulated IL-1ra and IL-6 were defined as primary outcome measures. Moreover, various immunological and serum muscle damage markers were investigated. Read More
Nat Rev Immunol 2017 Mar 20;17(3):146-147. Epub 2017 Feb 20.
Eur J Ophthalmol 2017 Jun 3;27(4):454-459. Epub 2017 Jan 3.
St. Erik Eye Hospital, Karolinska Institutet, Stockholm - Sweden.
Purpose: To identify and evaluate possible causes of poor patient-reported visual function after cataract surgery.
Methods: We obtained retrospective data from the Swedish National Cataract Register on patient self-assessed visual function before and after cataract surgery based on the Catquest-9SF questionnaire. We identified patients who self-reported similar or more difficulties postoperatively than preoperatively, and looked at possible causative variables such as sex, age, preoperative and postoperative corrected distance visual acuity (CDVA) and refractive errors, and ocular comorbidity. Read More
AAPS J 2017 05 13;19(3):736-742. Epub 2017 Jan 13.
Clinical Pharmacology, Division of Drug Research, Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
Meclonazepam is a benzodiazepine patented in 1977 to treat parasitic worms, which recently appeared as a designer benzodiazepine and drug of abuse. The aim of this study was to identify metabolites suitable as biomarkers of drug intake in urine using high-resolution mass spectrometry, authentic urine samples, and different model systems including human liver microsomes, cryopreserved hepatocytes, and a mice model. The main metabolites of meclonazepam found in human urine were amino-meclonazepam and acetamido-meclonazepam; also, minor peaks for meclonazepam were observed in three of four urine samples. Read More
Nat Rev Immunol 2017 02 3;17(2):78-79. Epub 2017 Jan 3.
Nat Rev Immunol 2017 01 12;17(1):4-5. Epub 2016 Dec 12.
Nat Rev Immunol 2016 11;16(12):720-721
J Immunol Methods 2017 01 19;440:58-66. Epub 2016 Nov 19.
Department of Sports Medicine, Justus-Liebig-University, Kugelberg 62, 35394 Gießen, Germany.
Strenuous exercise is followed by an elevation of many cytokines with inflammation regulating properties. Since most cytokines act at pico- or nanomolar concentrations many investigations failed to detect their concentrations in vivo. Hence, the aim of this study was to evaluate the significance of cytokine measurements (IL-1β, TNF-α, IL-1ra, IL-6, CCL2 and CXCL8) in a stimulated whole-blood culture (sWBC) compared to serum with respect to their exercise-induced kinetics and detection rates. Read More
Forensic Sci Int 2017 May 5;274:55-63. Epub 2016 Nov 5.
Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, 58758 Linköping, Sweden; Division of Drug Research, Department of Medical Health Sciences, Linköping University, 58185 Linköping, Sweden.
Flubromazolam is a triazolam benzodiazepine that recently emerged as a new psychoactive substance. Since metabolism data are scarce and good analytical targets besides the parent are unknown, we investigated flubromazolam metabolism in vitro and in vivo. 10μmol/L flubromazolam was incubated with human liver microsomes for 1h and with cryopreserved human hepatocytes for 5h. Read More
Eur J Ophthalmol 2017 Mar 18;27(2):164-168. Epub 2016 Jul 18.
St. Erik Eye Hospital, Karolinska Institutet, Stockholm - Sweden.
Purpose: To compare the development of posterior capsule opacification (PCO) and survival rate without capsulotomy after implantation of a hydrophobic or hydrophilic acrylic intraocular lens (IOL) at the 9-year postoperative follow-up.
Methods: One of 3 experienced cataract surgeons performed standard phacoemulsification in one eye of 120 patients with cataract. The patients were randomized to implantation of either a hydrophobic acrylic IOL or a hydrophilic acrylic IOL. Read More
Eur J Ophthalmol 2017 Jan 31;27(1):39-44. Epub 2016 May 31.
St. Erik Eye Hospital, Karolinska Institutet, Stockholm - Sweden.
Purpose: To compare complications after cataract surgery using 2 different phacoemulsification fluidic settings.
Methods: One cataract surgeon (M.K. Read More
Nat Rev Immunol 2016 10;16(11):660
Nat Rev Immunol 2016 09;16(10):597
Nat Rev Immunol 2016 10 12;16(10):594-5. Epub 2016 Sep 12.
Mediators Inflamm 2016 5;2016:1693918. Epub 2016 Jul 5.
Department of Sports Medicine, Justus Liebig University, Kugelberg 62, 35394 Giessen, Germany.
The present double-blind, randomized, placebo-controlled clinical trial intended to test whether ingestion of a natural combination medicine (Tr14 tablets) affects serum muscle damage and inflammatory immune response after downhill running. 96 male subjects received Tr14 tablets, which consist of 14 diluted biological and mineral components, or a placebo for 72 h after the exercise test, respectively. Changes in postexercise levels of various serum muscle damage and immunological markers were investigated. Read More
Nat Rev Immunol 2016 09 1;16(9):534-5. Epub 2016 Aug 1.
Drug Test Anal 2017 May 12;9(5):680-698. Epub 2016 Aug 12.
Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, 58758, Linköping, Sweden.
25C-NBOMe and 25I-NBOMe are potent hallucinogenic drugs that recently emerged as new psychoactive substances. To date, a few metabolism studies were conducted for 25I-NBOMe, whereas 25C-NBOMe metabolism data are scarce. Therefore, we investigated the metabolic profile of these compounds in human hepatocytes, an in vivo mouse model and authentic human urine samples from forensic cases. Read More
Nat Rev Immunol 2016 08 18;16(8):464-5. Epub 2016 Jul 18.
Nat Rev Immunol 2016 07 20;16(7):405. Epub 2016 Jun 20.
Eur J Nutr 2017 Aug 16;56(5):1939-1951. Epub 2016 Jun 16.
GENUD (Growth, Exercise, Nutrition and Development) Research Group, University of Zaragoza, C/Pedro Cerbuna 12, 50009, Saragossa, Spain.
Objective: To examine the association between food and beverage consumption and time spent in different sedentary behaviours such as watching TV and DVDs, playing computer/video games and quiet play/activities in preschoolers.
Methods: A sample of 6431 (51.8 % males) European preschoolers aged 3. Read More
Mediators Inflamm 2016 30;2016:4851935. Epub 2016 Apr 30.
Department of Sports Medicine, Justus-Liebig University Giessen, Kugelberg 62, 35394 Giessen, Germany.
Acute physical exercise and repeated exercise stimuli affect whole-body metabolic and immunologic homeostasis. The aim of this study was to determine plasma protein profiles of trained (EET, n = 19) and untrained (SED, n = 17) individuals at rest and in response to an acute bout of endurance exercise. Participants completed a bicycle exercise test at an intensity corresponding to 80% of their VO2max. Read More
Nat Rev Immunol 2016 05;16(6):338-9
Nat Rev Immunol 2016 04;16(5):276-7
PLoS One 2016 11;11(4):e0152928. Epub 2016 Apr 11.
Department of Movement and Sport Sciences, Ghent University, Ghent, Belgium.
Background: Within the ToyBox-study, a kindergarten-based, family-involved intervention was developed to prevent overweight and obesity in European preschoolers, targeting four key behaviours related to early childhood obesity, including water consumption. The present study aimed to examine the effect of the ToyBox-intervention (cluster randomized controlled trial) on water intake and beverage consumption in European preschoolers and to investigate if the intervention effects differed by implementation score of kindergartens and parents/caregivers.
Method: A sample of 4964 preschoolers (4. Read More
Curr Pharm Des 2016 ;22(24):3730-48
Justus-Liebig-University, Giessen, Department of Sports Medicine, Kugelberg 62, D-35394 Giessen, Germany.
Background: An individual's level of physical activity is one of a set of lifestyle and behavioral factors that can affect immune function and health.
Methods: The purpose of this review is to summarize the current knowledge in this research field and to review the recent developments in exercise immunology.
Results: Most studies show that regular exercise training increases immune competence and reduces the risk of infection compared to a sedentary lifestyle. Read More
Nat Rev Immunol 2016 Apr 14;16(4):205. Epub 2016 Mar 14.
Nat Rev Immunol 2016 Feb;16(2):74-5
Nat Rev Immunol 2016 Feb 25;16(2):73. Epub 2016 Jan 25.
Int J Behav Nutr Phys Act 2016 Jan 5;13. Epub 2016 Jan 5.
Department of Movement and Sport Sciences, Ghent University, Watersportlaan 2, Ghent, 9000, Belgium.
Background: In preschoolers, high levels of sedentary behaviour are associated with several adverse health outcomes. The purpose of this study is to report the effects of the ToyBox-intervention (a European 24-week cluster randomised controlled trial) on sedentary behaviour in preschoolers.
Methods: In Belgium, 859 preschoolers from 27 kindergartens (15 intervention and 12 control) wore an accelerometer to objectively measure their sedentary time and 1715 parents/caregivers completed a questionnaire to assess sedentary activities in which preschoolers participate at home. Read More