From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

The implementation of whole exome sequencing (WES) has had a major impact on the diagnostic yield of genetic testing in individuals with epilepsy. The identification of a genetic etiology paves the way to precision medicine: an individualized treatment approach, based on the disease pathophysiology. The aim of this retrospective cohort study was to: (1) determine the diagnostic yield of WES in a heterogeneous cohort of individuals with epilepsy referred for genetic testing in a real-world clinical setting, (2) investigate the influence of epilepsy characteristics on the diagnostic yield, (3) determine the theoretical yield of treatment changes based on genetic diagnosis and (4) explore the barriers to implementation of precision medicine.

Fracture healing in a polytrauma rat model is influenced by mtDNA:cGAS complex mediated pro-inflammation.

Purpose: The mitochondrial DNA (mtDNA) activated cyclic guanosine monophosphate-adenosine monophosphate synthase-stimulator of interferon genes (cGAS-STING) signaling pathway is a key player in mediating immune responses in autoimmune disorders and cancer. However, its role in severe trauma associated fracture healing is unknown. This study investigated if the cGAS-STING signaling pathway contributes to delayed bone healing in polytrauma (PT) fractures.

Chlorine Distribution in Soil and Vegetation in Boreal Habitats along a Moisture Gradient from Upland Forest to Lake Margin Wetlands.

The assumed dominance of chloride (Cl) in terrestrial ecosystems is challenged by observations of extensive formation of organically bound Cl (Cl), resulting in large soil Cl storage and internal cycling. Yet, little is known about the spatial distribution of Cl in ecosystems. We quantified patterns of Cl distribution in different habitats along a boreal hillslope moisture gradient ranging from relatively dry upland coniferous forests to wet discharge areas dominated by alder.

Urodrill - a novel MRI-guided endoscopic biopsy technique to sample and molecularly classify muscle-invasive bladder cancer without fractionating the specimen during transurethral resection.

Unlabelled: The current diagnostic pathway for patients with muscle-invasive bladder cancer (MIBC), which involves with computed tomography urography, cystoscopy, and transurethral resection of the bladder (TURB) to histologically confirm MIBC, delays definitive treatment. The Vesical Imaging-Reporting and Data System (VI-RADS) has been suggested for MIBC identification using magnetic resonance imaging (MRI), but a recent randomized trial reported misclassification in one-third of patients. We investigated a new endoscopic biopsy device (Urodrill) for histological confirmation of MIBC and assessment of molecular subtype by gene expression in patients with VI-RADS 4 and 5 lesions on MRI.

Women's experience of sexuality after radical cystectomy - a qualitative study.

Purpose: The aim of this study was to explore how women experienced sexuality after radical cystectomy due to bladder cancer.

Methods: We performed an interview study with qualitative design with content analysis. Inclusion criteria were age below 75 years.

Preclinical evaluation of a commercially available biofilm disrupting wound lavage for musculoskeletal trauma.

Background: Treatment of open fractures remains a significant challenge in trauma care as these fractures are accompanied by extensive soft tissue damage, exposing the wound site to contaminants and increasing infection risk. Formation of biofilm, a capsule-like environment that acts as a barrier to treatment, is a primary mode by which infecting pathogens persist at the wound site. Therefore, a pressing need exists to identify irrigation methods that can disrupt biofilm and expose pathogens to treatment.

Robot-assisted nephroureterectomy for upper tract urothelial carcinoma-feasibility and complications: a single center experience.

Background: Robot-assisted nephroureterectomy (RANU) is the primary treatment for upper tract urothelial carcinoma (UTUC) at our hospital for patients with clinical stage less than T2, and for patients with invasive tumours, but unfit for major surgery.

Objective: To assess peri-operative conditions and outcomes of RANU at our unit, and to evaluate the safety of the procedure.

Methods: The medical records of all 166 patients undergoing RANU for suspected UTUC and followed for more than three months in a large university hospital in Sweden were reviewed retrospectively.

Neutralization of HMGB1 improves fracture healing and γδ T lymphocyte counts at the fracture site in a polytrauma rat model.

Purpose: Delayed fracture healing is a common consequence of polytrauma (PT) occurring in patients with multiple injuries. We believe that when early release of high mobility group box 1 (HMGB1) molecules from necrotic tissues exceed their normal levels in blood, they dysregulate immune responses associated with normal healing. This study investigates the detrimental effect of such dysregulate immune responses by targeting HMGB1 in a PT rat model with debilitating injuries.

Anorectal dysfunction after radical cystectomy for bladder cancer.

To prospectively assess anorectal dysfunction using patient-reported outcomes using validated questionnaires, manovolumetry and endoanal ultrasound before and 12 months after RC. From 2014 to 2019, we prospectively included 44 patients scheduled for RC. Preoperatively and 12 months after surgery, 41 patients filled in a low anterior resection syndrome score (LARS-score) to assess fecal incontinence, increased frequency, urgency and emptying difficulties and a St Mark's score to assess fecal incontinence in conjunction with manovolumetry and endoanal ultrasound examinations.

Urostomal ileal conduit complications in association with abdominal wall mesh implantation.

Objective: Parastomal hernia (PH) in association with an ileal conduit is a common complication that is difficult to treat. Mesh reinforcement has been suggested to improve outcomes; either as prophylaxis or for treatment of a parastomal hernia during abdominal wall reconstruction.

Patients And Methods: A retrospective study was performed in consecutive patients subjected to mesh implantation between 2000 and 2016 having a concurrent or previous ileal conduit reconstruction.

An integrated continuous downstream process with real-time control: A case study with periodic countercurrent chromatography and continuous virus inactivation.

Integrated continuous downstream processes with process analytical technology offer a promising opportunity to reduce production costs and increase process flexibility and adaptability. In this case study, an integrated continuous process was used to purify a recombinant protein on laboratory scale in a two-system setup that can be used as a general downstream setup offering multiproduct and multipurpose manufacturing capabilities. The process consisted of continuous solvent/detergent virus inactivation followed by periodic countercurrent chromatography in the capture step, and a final chromatographic polishing step.

COVID-19: Large-scale collective action, government intervention, and the importance of trust.

In this article we apply a large-scale collective action framework on the spread of the COVID-19 virus. We compare the pandemic with other large-scale collective action problems - such as climate change, antimicrobial resistance and biodiversity loss - which are identified by the number of actors involved (the more actors, the larger the scale); the problem's complexity; and the spatial and temporal distance between the actors causing and being affected by the problem. The greater the extent of these characteristics, the larger the scale of the collective action problem and the smaller the probability of spontaneous collective action.

Hospital costs and health-related quality of life from complications after esophagectomy.

Background: Approximately 50% of all patients undergoing esophagectomy experience complications. This paper estimates the costs due to complications after esophagectomy in a Swedish context.

Material And Methods: The Swedish National Register for Esophageal and Gastric Cancer (NREV) and the Healthcare Consumption Register in Region Skåne (RSVD) were crossmatched for patients undergoing esophagectomy between 2010 and 2015 in Region Skåne, Sweden (n = 132).

Preventing Parastomal Hernia After Ileal Conduit by the Use of a Prophylactic Mesh: A Randomised Study.

Background: Parastomal hernia (PSH) after urinary diversion with ileal conduit is frequently a clinical problem.

Objective: To investigate whether a prophylactic lightweight mesh in the sublay position can reduce the cumulative incidence of PSH after open cystectomy with ileal conduit.

Design, Setting, And Participants: From 2012 to 2017, we randomised 242 patients 1:1 to conventional stoma construction (n = 124) or prophylactic mesh (n = 118) at three Swedish hospitals (ISRCTN 95093825).

A carbon mass-balance budget for a periglacial catchment in West Greenland - Linking the terrestrial and aquatic systems.

Climate change is predicted to have far reaching consequences for the mobility of carbon in arctic landscapes. On a regional scale, carbon cycling is highly dependent on interactions between terrestrial and aquatic parts of a catchment. Despite this, studies that integrate the terrestrial and aquatic systems and study entire catchments using site-specific data are rare.

A registry-based study evaluating overall survival and treatment duration in Swedish patients with metastatic castration-resistant prostate cancer treated with enzalutamide.

This retrospective, single-centre, non-interventional, registry-based study evaluated patients with metastatic castration-resistant prostate cancer (mCRPC) treated with enzalutamide in daily clinical practice at Skåne University Hospital, Malmö, Sweden. Registry data were reviewed for patients treated with enzalutamide pre- or post-chemotherapy initiated between December 2013 and June 2017. The primary endpoint was overall survival (OS) in post-chemotherapy patients.

On the preconditions for large-scale collective action.

The phenomenon of collective action and the origin of collective action problems have been extensively and systematically studied in the social sciences. Yet, while we have substantial knowledge about the factors promoting collective action at the local level, we know far less about how these insights travel to large-scale collective action problems. Such problems, however, are at the heart of humanity's most pressing challenges, including climate change, large-scale natural resource depletion, biodiversity loss, nuclear proliferation, antibiotic resistance due to overconsumption of antibiotics, and pollution.

Nerve Function Impairment After Acute Vibration Exposure.

Objective: This study was to investigate the acute effects of hand-arm vibrations on the nerve functions of the hands, and the impact of the grip force applied to the vibrating tool during exposure.

Methods: Grip strength and perception of vibration, touch, and temperature were evaluated using quantitative sensory testing (QST) before and after vibration exposure in 21 occupationally unexposed individuals. The procedure was performed twice, with a higher grip force being applied during exposure on the second occasion.

Who should record surgical complications? Results from a third-party assessment of complications after radical cystectomy.

In Sweden complications after radical cystectomy have been reported to the nationwide population-based Swedish Cystectomy Registry since 2011. Here, validation of the reporting was assessed in two healthcare regions. Complications were ascertained from patient records by a third party not involved in the care delivered to 429 randomly selected patients from 949 who had undergone radical cystectomy since 2011 in four hospitals.

Optimization of integrated chromatography sequences for purification of biopharmaceuticals.

With continued development of integrated and continuous downstream purification processes, tuning and optimization become increasingly complicated with additional parameters and codependent variables over the sequence. This article offers a novel perspective of nonlinear optimization of integrated sequences with regard to individual column sizes, flow rates, and scheduling. The problem setup itself is a versatile tool to be used in downstream design which is demonstrated in two case studies: a four-column integrated sequence and a continuously loaded twin-capture setup with five columns.