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Mitochondrial DNA (mtDNA) is useful to assist with identification of the source of a biological sample, or to confirm matrilineal relatedness. Although the autosomal genome is much larger, mtDNA has an advantage for forensic applications of multiple copy number per cell, allowing better recovery of sequence information from degraded samples. In addition, biological samples such as fingernails, old bones, teeth and hair have mtDNA but little or no autosomal DNA. The relatively low mutation rate of the mitochondrial genome (mitogenome) means that there can be large sets of matrilineal-related individuals sharing a common mitogenome. Here we present the mitolina simulation software that we use to describe the distribution of the number of mitogenomes in a population that match a given mitogenome, and investigate its dependence on population size and growth rate, and on a database count of the mitogenome. Further, we report on the distribution of the number of meioses separating pairs of individuals with matching mitogenome. Our results have important implications for assessing the weight of mtDNA profile evidence in forensic science, but mtDNA analysis has many non-human applications, for example in tracking the source of ivory. Our methods and software can also be used for simulations to help validate models of population history in human or non-human populations.

The introduction of forensic autosomal DNA profiles was controversial, but the problems were successfully addressed, and DNA profiling has gone on to revolutionise forensic science. Y-chromosome profiles are valuable when there is a mixture of male-source and female-source DNA, and interest centres on the identity of the male source(s) of the DNA. The problem of evaluating evidential weight is even more challenging for Y profiles than for autosomal profiles. Numerous approaches have been proposed, but they fail to deal adequately with the fact that men with matching Y-profiles are related in extended patrilineal clans, many of which may not be represented in available databases. The higher mutation rates of modern profiling kits have led to increased discriminatory power but they have also exacerbated the problem of fairly conveying evidential value. Because the relevant population is difficult to define, yet the number of matching relatives is fixed as population size varies, it is typically infeasible to derive population-based match probabilities relevant to a specific crime. We propose a conceptually simple solution, based on a simulation model and software to approximate the distribution of the number of males with a matching Y profile. We show that this distribution is robust to different values for the variance in reproductive success and the population growth rate. We also use importance sampling reweighting to derive the distribution of the number of matching males conditional on a database frequency, finding that this conditioning typically has only a modest impact. We illustrate the use of our approach to quantify the value of Y profile evidence for a court in a way that is both scientifically valid and easily comprehensible by a judge or juror.

Introduction: The Advanced Trauma Life Support guidelines (ATLS; 2018, 10th ed.) recommend an early and liberal supplemental oxygen for all severely injured trauma patients to prevent hypoxaemia. As of 2024, these guidelines remain the most current. This may lead to hyperoxaemia, which has been associated with increased mortality and respiratory complications. We aimed to investigate the attitudes among clinicians, defined as physicians and prehospital personnel, towards the use of supplemental oxygen in trauma cases., Materials and Methods: A European, web-based, cross-sectional survey was conducted consisting of 23 questions. The primary outcome was the question: "In your opinion, should all severely injured trauma patients always be given supplemental oxygen, regardless of arterial oxygen saturation measured by pulse oximetry?"., Results: The survey was answered by 707 respondents, which corresponded to a response rate of 52 %. The respondents were predominantly male (76 %), with the largest representation from Denmark (82 %), and primarily educated as physicians (62 %). A majority of respondents (73 % [95 % CI: 70 to 76 %]) did not support that supplemental oxygen should always be provided to all severely injured trauma patients without consideration of their arterial oxygen saturation as measured by pulse oximetry (SpO 2 ), with no significant difference between physicians and non-physicians (p = 0.08). Based on the respondents' preferred dosages, the median initial administered dosage of supplemental oxygen for spontaneously breathing trauma patients with a normal SpO 2 in the first few hours after trauma was 0 (interquartile range [IQR] 0-3) litres per minute, with 58 % of respondents opting not to provide any supplemental oxygen. The lowest acceptable SpO 2 goal in the first few hours after trauma was 94 % (IQR 92-95). In clinical scenarios with TBI, higher dosage of supplemental oxygen and fraction of inspired oxygen (FiO 2 ) were preferred, as well as targeting partial pressure of oxygen in arterial blood as opposed to adjusting the FiO 2 directly, compared to no TBI., Conclusion: Almost three out of four clinicians did not support the administration of supplemental oxygen to all severely injured trauma patients, regardless of SpO 2 . This corresponds to a more restrictive approach than recommended in the current ATLS (2018, 10th ed.) guidelines., Competing Interests: Declaration of competing interest None of the authors have any conflicts of interest to declare regarding the present manuscript. For conflicts of interests related to any entity the past 36 months not related to the present manuscript, these authors have the following to declare: Tobias Arleth received funding for a biomarker Copenhagen sub-trial of TRAUMOX2 from the Holger and Ruth Hesses Memorial Foundation and Danish Air Ambulance, and received funding for three months of research PhD programme exchange from Knud Højgaard's Foundation, the William Demant Foundation, Christian and Ottilia Brorson's Travel Scholarships, the Medical Science Faculty Foundation of Copenhagen University, and the Consultant Dr. Med. Edgar Schnohr and wife Gilberte Schnohrs Foundation. Josefine Baekgaard received funding for the TRAUMOX2 trial from the Novo Nordisk Foundation and was awarded with the prize for “talented young researcher” by The Lundbeck Foundation, of which 47.000€ was allocated to research. Stine T. Zwisler attended a Secma ultrasound course, and is an IDMC consultant for the GA Targets Trial; the author or the author's affiliation did not receive any payments in this regard. Wolf. E. Hautz received funding from the Swiss National Science Foundation and the European Union. Wolf E. Hautz received consulting fees and honorarias from the AO Foundation Zurich, and Mundipharma Switzerland gave him support for attending meetings, alongside participating in a DMSC for MDI Australia. Jacob Steinmetz receives funding of his professorship from the Norwegian Air Ambulance Foundation where payments are made to his organization, and he received funding for the TRAUMOX2 trial from the Novo Nordisk Foundation. The rest of the authors have nothing to declare., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Importance: Early administration of supplemental oxygen for all severely injured trauma patients is recommended, but liberal oxygen treatment has been associated with increased risk of death and respiratory complications., Objective: To determine whether an early 8-hour restrictive oxygen strategy compared with a liberal oxygen strategy in adult trauma patients would reduce death and/or major respiratory complications., Design, Setting, and Participants: This randomized controlled trial enrolled adult trauma patients transferred directly to hospitals, triggering a full trauma team activation with an anticipated hospital stay of a minimum of 24 hours from December 7, 2021, to September 12, 2023. This multicenter trial was conducted at 15 prehospital bases and 5 major trauma centers in Denmark, the Netherlands, and Switzerland. The 30-day follow-up period ended on October 12, 2023. The primary outcome was assessed by medical specialists in anesthesia and intensive care medicine blinded to the randomization., Interventions: In the prehospital setting or on trauma center admission, patients were randomly assigned 1:1 to a restrictive oxygen strategy (arterial oxygen saturation target of 94%) (n = 733) or liberal oxygen strategy (12-15 L of oxygen per minute or fraction of inspired oxygen of 0.6-1.0) (n = 724) for 8 hours., Main Outcomes and Measures: The primary outcome was a composite of death and/or major respiratory complications within 30 days. The 2 key secondary outcomes, death and major respiratory complications within 30 days, were assessed individually., Results: Among 1979 randomized patients, 1508 completed the trial (median [IQR] age, 50 [31-65] years; 73% male; and median Injury Severity Score was 14 [9-22]). Death and/or major respiratory complications within 30 days occurred in 118 of 733 patients (16.1%) in the restrictive oxygen group and 121 of 724 patients (16.7%) in the liberal oxygen group (odds ratio, 1.01 [95% CI, 0.75 to 1.37]; P = .94; absolute difference, 0.56 percentage points [95% CI, -2.70 to 3.82]). No significant differences were found between groups for each component of the composite outcome. Adverse and serious adverse events were similar across groups, with the exception of atelectasis, which was less common in the restrictive oxygen group compared with the liberal oxygen group (27.6% vs 34.7%, respectively)., Conclusions and Relevance: In adult trauma patients, an early restrictive oxygen strategy compared with a liberal oxygen strategy initiated in the prehospital setting or on trauma center admission for 8 hours did not significantly reduce death and/or major respiratory complications within 30 days., Trial Registration: ClinicalTrials.gov Identifier: NCT05146700.

Introduction: Supplemental oxygen is commonly used in trauma patients, although it may lead to hyperoxaemia that has been associated with pulmonary complications and increased mortality. The primary objective of this trial, TRAUMOX2, is to compare a restrictive versus liberal oxygen strategy the first 8 hours following trauma., Methods and Analysis: TRAUMOX2 is an investigator-initiated, international, parallel-grouped, superiority, outcome assessor-blinded and analyst-blinded, randomised, controlled, clinical trial.Adult patients with suspected major trauma are randomised to eight hours of a restrictive or liberal oxygen strategy. The restrictive group receives the lowest dosage of oxygen ( > 21%) that ensures an SpO 2 of 94%. The liberal group receives 12-15 L O 2 /min or FiO 2 =0.6-1.0.The primary outcome is a composite of 30-day mortality and/or development of major respiratory complications (pneumonia and/or acute respiratory distress syndrome).With 710 participants in each arm, we will be able to detect a 33% risk reduction with a restrictive oxygen strategy if the incidence of our primary outcome is 15% in the liberal group., Ethics and Dissemination: TRAUMOX2 is carried out in accordance with the Helsinki II Declaration. It has been approved by the Danish Committee on Health Research Ethics for the Capital Region (H-21018062) and The Danish Medicines Agency, as well as the Dutch Medical Research Ethics Committee Erasmus MS (NL79921.078.21 and MEC-2021-0932). A website (www.traumox2.org) is available for updates and study results will be published in an international peer-reviewed scientific journal., Trial Registration Numbers: EudraCT 2021-000556-19; NCT05146700., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To evaluate the association between common biomarkers, death and intensive care unit (ICU) admission in patients with COVID-19., Design: Retrospective cohort study. From electronic national registry data, we used Cox analysis and bootstrapping to evaluate associations between baseline levels of biomarkers and standardised absolute risks of death/ICU admission, adjusted for age and gender., Setting: All hospitals in Denmark., Participants: 1310 patients aged ≥18 years admitted to hospital with COVID-19 from 27th of February to 1st of May 2020, with available biochemistry data., Main Outcome Measures: A composite of death/ICU admission occurring within 30 days., Results: Of the 1310 patients admitted to hospital (54.6% men; median age 73.6 years), 352 (26.9%) experienced the composite endpoint and 263 (20.1%) died. For the composite endpoint, the absolute risks for moderately and severely elevated C reactive protein (CRP) were significantly higher, 21.5% and 39.2%, respectively, compared with 5.0% for those with normal CRP. Moderately and severely elevated leucocytes were significantly higher, 34.5% and 46.6% risk, respectively, compared with 23.2% for those with normal leucocytes. Moderately and severely decreased estimated glomerular filtration rates (eGFR) were significantly higher, 41.5% and 45.9% risk, respectively, compared with 30.4% for those with normal/mildly decreased eGFR. Normal and elevated ureas were significantly higher, 22.3% and 40.6% risk, respectively, compared with 7.3% for those with low urea. Elevated D-dimer was significantly higher, 31.8% risk, compared with 17.5% for those with normal D-dimer. Moderately and severely elevated troponins were significantly higher, 27.7% and 57.3% risk, respectively, compared with 9.4% for those with normal troponin. Elevated procalcitonin was significantly higher, 52.1% risk, compared with 28.0% for those with normal procalcitonin., Conclusion: In this nationwide study of patients admitted with COVID-19, elevated levels of CRP, leucocytes, procalcitonin, urea, troponins and D-dimer, and low levels of eGFR were associated with higher standardised absolute risk of death/ICU admission within 30 days., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

This report is based on results from three research groups in Sweden (Fritzell et al), Denmark (Udby et al), and Norway (Bråten et al). The groups have conducted studies published in international journals in 2019 [8-10]. The results complement each other and strongly suggest that antibiotics, in the absence of clear signs of a clinically relevant infection (discitis/spondylitis), should not be used for back pain with or without leg pain. The Swedish study showed that bacteria found in the disc/vertebra during surgery are very likely due to contamination [8], the Danish study showed that patients with Modic Changes (MC) on MR in the long term were not associated with more back pain or functional impairment than in patients without MC [9], and the Norwegian study showed that antibiotics for residual back pain after previous disc herniation had no better clinical effect than placebo [10]. Antibiotic resistance is one of the biggest threats to public health today and in the future.

Gas-liquid mass transfer in wastewater treatment processes has received considerable attention over the last decades from both academia and industry. Indeed, improvements in modelling gas-liquid mass transfer can bring huge benefits in terms of reaction rates, plant energy expenditure, acid-base equilibria and greenhouse gas emissions. Despite these efforts, there is still no universally valid correlation between the design and operating parameters of a wastewater treatment plant and the gas-liquid mass transfer coefficients. That is why the current practice for oxygen mass transfer modelling is to apply overly simplified models, which come with multiple assumptions that are not valid for most applications. To deal with these complexities, correction factors were introduced over time. The most uncertain of them is the α-factor. To build fundamental gas-liquid mass transfer knowledge more advanced modelling paradigms have been applied more recently. Yet these come with a high level of complexity making them impractical for rapid process design and optimisation in an industrial setting. However, the knowledge gained from these more advanced models can help in improving the way the α-factor and thus gas-liquid mass transfer coefficient should be applied. That is why the presented work aims at clarifying the current state-of-the-art in gas-liquid mass transfer modelling of oxygen and other gases, but also to direct academic research efforts towards the needs of the industrial practitioners.

Background Context: Decompression surgery for lumbar spinal stenosis (LSS) is the most common spinal procedure in the elderly. To avoid persisting low back pain, adding arthrodesis has been recommended, especially if there is a coexisting degenerative spondylolisthesis. However, this strategy remains controversial, resulting in practice-based variation., Purpose: The present study aimed to evaluate in a pragmatic study if surgical selection criteria and variation in use of arthrodesis in three Scandinavian countries can be linked to variation in treatment effectiveness., Study Design: This is an observational study based on a combined cohort from the national spine registries of Norway, Sweden, and Denmark., Patient Sample: Patients aged 50 and older operated during 2011-2013 for LSS were included., Outcome Measures: Patient-Reported Outcome Measures (PROMs): Oswestry Disability Index (ODI) (primary outcome), Numeric Rating Scale (NRS) for leg pain and back pain, and health-related quality of life (Euro-Qol-5D) were reported. Analysis included case-mix adjustment. In addition, we report differences in hospital stay., Methods: Analyses of baseline data were done by analysis of variance (ANOVA), chi-square, or logistic regression tests. The comparisons of the mean changes of PROMs at 1-year follow-up between the countries were done by ANOVA (crude) and analysis of covariance (case-mix adjustment)., Results: Out of 14,223 included patients, 10,890 (77%) responded at 1-year follow-up. Apart from fewer smokers in Sweden and higher comorbidity rate in Norway, baseline characteristics were similar. The rate of additional fusion surgery (patients without or with spondylolisthesis) was 11% (4%, 47%) in Norway, 21% (9%, 56%) in Sweden, and 28% (15%, 88%) in Denmark. At 1-year follow-up, the mean improvement for ODI (95% confidence interval) was 18 (17-18) in Norway, 17 (17-18) in Sweden, and 18 (17-19) in Denmark. Patients operated with arthrodesis had prolonged hospital stay., Conclusions: Real-life data from three national spine registers showed similar indications for decompression surgery but significant differences in the use of concomitant arthrodesis in Scandinavia. Additional arthrodesis was not associated with better treatment effectiveness., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Surgical treatment for lumbar spinal stenosis is associated with both short- and long-term benefits with improvements in patient function and pain. Even though most patients are satisfied postoperatively, some studies report that up to one-third of patients are dissatisfied., Objective: To present clinical outcome data and identify prognostic factors related to patient satisfaction 1 yr after posterior decompression surgery for lumbar spinal stenosis., Methods: This multicenter register study included 2562 patients. Patients were treated with various types of posterior decompression. Patients with previous spine surgery or concomitant fusion were excluded. Patient satisfaction was analyzed for associations with age, sex, body mass index, smoking status, duration of pain, number of decompressed vertebral levels, comorbidities, and patient-reported outcome measures, which were used to quantify the effect of the surgical intervention., Results: At 1-yr follow-up, 62.4% of patients were satisfied but 15.1% reported dissatisfaction. The satisfied patients showed significantly greater improvement in all outcome measures compared to the dissatisfied patients. The outcome scores for the dissatisfied patients were relatively unchanged or worse compared to baseline. Association was seen between dissatisfaction, duration of leg pain, smoking status, and patient comorbidities. Patients with good walking capacity at baseline were less prone to be dissatisfied compared to patients with poor walking capacity., Conclusion: This study found smoking, long duration of leg pain, and cancerous and neurological disease to be associated with patient dissatisfaction, whereas good walking capacity at baseline was positively associated with satisfaction after 1 yr.

A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c.G6859A change in exon 21 (NM_001408), leading to a predicted p.V2287I (NP_001399.1) change. This variant was found in all affected members of the pedigree, but showed reduced penetrance. Analysis of tagging variants in CELSR1-3 in a set of 1739 Swedish-Danish scoliosis cases and 1812 controls revealed significant association (p = 0.0001) to rs2281894, a common synonymous variant in CELSR2. This association was not replicated in case-control cohorts from Japan and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance.

Background and purpose - Routine outcome measurement has been shown to improve performance in several fields of healthcare. National spine surgery registries have been initiated in 5 Nordic countries. However, there is no agreement on which outcomes are essential to measure for adolescent and young adult patients with a spinal deformity. The aim of this study was to develop a core outcome set (COS) that will facilitate benchmarking within and between the 5 countries of the Nordic Spinal Deformity Society (NSDS) and other registries worldwide. Material and methods - From August 2015 to September 2016, 7 representatives (panelists) of the national spinal surgery registries from each of the NSDS countries participated in a modified Delphi study. With a systematic literature review as a basis and the International Classification of Functioning, Disability and Health framework as guidance, 4 consensus rounds were held. Consensus was defined as agreement between at least 5 of the 7 representatives. Data were analyzed qualitatively and quantitatively. Results - Consensus was reached on the inclusion of 13 core outcome domains: "satisfaction with overall outcome of surgery", "satisfaction with cosmetic result of surgery", "pain interference", physical functioning", "health-related quality of life", "recreation and leisure", "pulmonary fatigue", "change in deformity", "self-image", "pain intensity", "physical function", "complications", and "re-operation". Panelists agreed that the SRS-22r, EQ-5D, and a pulmonary fatigue questionnaire (yet to be developed) are the most appropriate set of patient-reported measurement instruments that cover these outcome domains. Interpretation - We have identified a COS for a large subgroup of spinal deformity patients for implementation and validation in the NSDS countries. This is the first study to further develop a COS in a global perspective.

Study Design: Retrospective review of three spine surgery databases., Objectives: The purpose of the present study is to determine whether predictors of hospital readmission and surgical site infection (SSI) after lumbar fusion will be the same in United States, Denmark, and Japan., Summary of Background Data: Because clinical decision making becomes more data driven, risk stratification will be crucial to minimize complications. Spine surgeons worldwide face this issue, leading to parallel efforts to address risk stratification. This raises the question as to whether pooled data would be valuable and whether models generated in one country would be applicable to other populations., Methods: Predictors of SSI and 30-day readmission from three prospective databases (National Neurosurgery Quality and Outcomes Database [N2QOD] N = 2653, DaneSpine N = 1993, Japan Multicenter Spine Database [JAMSD] N = 3798) were determined and compared to identify common or divergent predictive risks., Results: Predictive variables differed in the three databases, for both readmission and SSI. Factors predictive for hospital readmission were American Society of Anesthesiologists (ASA) grade in N2QOD (P = 0.013, odds ratio [OR] 2.08), fusion levels in DaneSpine (P = 0.005, OR 1.67), and sex in JAMSD (P = 0.001, OR = 2.81). Associated differences in demographics and procedural factors included mean ASA grade (N2QOD = 2.45, JAMSD = 1.72) and fusion levels (N2QOD = 1.39, DaneSpine = 1.52, JAMSD = 1.34). For SSI, sex (P = 0.000, OR = 3.30), diabetes (P = 0.000, OR = 2.90), and length of stay (P = 0.000, OR = 1.02) were predictive in JAMSD. No predictors were identified in N2QOD or DaneSpine., Conclusion: Predictors of SSI and hospital readmission differ in the United States, Denmark, and Japan, suggesting that risk stratification models may need to be population specific or adjusted. Some differences in measured parameters exist in the three databases analyzed; however, patient and procedure selection also appear to differ and may limit the ability to directly pool data from different regions. Therefore, risk stratification models developed in one country may not be directly applicable to other countries., Level of Evidence: 2.

Introduction: Lumbar spinal stenosis (LSS) is a clinical syndrome of buttock or lower extremity pain, which may occur with or without back pain. The syndrome is associated with diminished space available for the neural and vascular elements in the lumbar spine. LSS is typically seen in elderly patients, its prevalence is estimated to be 47% in people over the age 60 years. LSS is the most common reason for spine surgery in Denmark and the number of surgical procedures is likely to increase due to demographic changes. The purpose of this study was to evaluate the patient-reported outcomes and perioperative complications of spinal decompression surgery in LSS patients., Methods: This study is a retrospective study based on prospectively collected data from 3,420 consecutive patients with clinical and magnetic resonance imaging confirmed LSS. Patients were treated with posterior decompression surgery without fusion. Data were obtained from the DaneSpine register and collected pre- and post-operatively after a minimum interval of one year. The outcome measures were Oswestry Disability Index (ODI), European Quality of Life 5D (EQ-5D), visual analogue score (VAS), 36-Short Form Mental Component Summary (MCS), 36-Short Form Physical Component Summary (PCS) and self-reported walking distance., Results: Of 3,420 cases enrolled, 2,591 (75%) had complete data after a minimum interval of one year. The mean ODI scores were 39.8 and improved to 24. The mean EQ-5D score was 0.40 and improved to 0.66. The mean VAS-leg improved from 54 to 36. The mean VAS-back improved from 46 to 34. The mean MCS improved from 28 to 36, and, finally, the mean PCS improved from 40 to 45. All p-values were 0.0000., Conclusion: Surgery improved all the patient-reported outcome measures and 82% of patients were satisfied., Funding: none., Trial Registration: This study was registered with the Danish Data Protection Agency.

Background Context: Idiopathic scoliosis is a spinal deformity affecting approximately 3% of otherwise healthy children or adolescents. The etiology is still largely unknown but has an important genetic component. Genome-wide association studies have identified a number of common genetic variants that are significantly associated with idiopathic scoliosis in Asian and Caucasian populations, rs11190870 close to the LBX1 gene being the most replicated finding., Purpose: The aim of the present study was to investigate the genetics of idiopathic scoliosis in a Scandinavian cohort by performing a candidate gene study of four variants previously shown to be associated with idiopathic scoliosis and exome sequencing of idiopathic scoliosis patients with a severe phenotype to identify possible novel scoliosis risk variants., Study Design: This was a case control study., Patient Sample: A total of 1,739 patients with idiopathic scoliosis and 1,812 controls were included., Outcome Measure: The outcome measure was idiopathic scoliosis., Methods: The variants rs10510181, rs11190870, rs12946942, and rs6570507 were genotyped in 1,739 patients with idiopathic scoliosis and 1,812 controls. Exome sequencing was performed on pooled samples from 100 surgically treated idiopathic scoliosis patients. Novel or rare missense, nonsense, or splice site variants were selected for individual genotyping in the 1,739 cases and 1,812 controls. In addition, the 5'UTR, noncoding exon and promoter regions of LBX1, not covered by exome sequencing, were Sanger sequenced in the 100 pooled samples., Results: Of the four candidate genes, an intergenic variant, rs11190870, downstream of the LBX1 gene, showed a highly significant association to idiopathic scoliosis in 1,739 cases and 1,812 controls (p=7.0×10(-18)). We identified 20 novel variants by exome sequencing after filtration and an initial genotyping validation. However, we could not verify any association to idiopathic scoliosis in the large cohort of 1,739 cases and 1,812 controls. We did not find any variants in the 5'UTR, noncoding exon and promoter regions of LBX1., Conclusions: Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Introduction: Following the municipal reform in Denmark in January 2007, the municipalities gained responsibility for post-operative rehabilitation. In the Region of Southern Denmark, this task was decentralised to 22 municipalities, which implied a possible risk for considerable variation. This study examined rehabilitation in the 22 municipalities of the Region of Southern Denmark for patients with lumbar disk herniation., Methods: A total of 22 physiotherapists answered a questionnaire regarding their rehabilitation programmes. The municipalities of 789 patients who had undergone decompressive surgery for lumbar disc herniation were identified. Changes in Oswestry disability index (ODI), EuroQol-5D (EQ-5D) and duration of sick leave were compared among the municipalities., Results: Patient-reported outcome measures showed no statistical difference in ODI, EQ-5D or sick leave at the one-year follow-up across the 22 municipalities. There was a correlation between sick leave and outcome as a longer sick leave was associated with less improvement in EQ-5D and ODI. Rehabilitation programmes across the region were comparable with respect to several factors. The questionnaire revealed a potential for enhanced cooperation between hospitals and rehabilitation centres., Conclusion: Rehabilitation was broadly similar, and patient outcome after one year did not differ significantly across the 22 municipalities or between the five largest samples. In general, all municipalities request enhanced cooperation between hospital and rehabilitation unit to ensure the best possible patient treatment. Further studies should focus on the effect of rehabilitation., Funding: not relevant., Trial Registration: not relevant.

Objective: To study the quantitative consumption in out-of-hours (OOH) primary care in Denmark and the Netherlands, in the context of OOH care services., Design: A retrospective observational study describing contacts with OOH care services, using registration data., Setting: OOH care services (i.e. OOH primary care, emergency department, and ambulance care) in one Danish and one Dutch region., Subjects: All patients contacting the OOH care services in September and October 2011., Main Outcome Measures: Consumption as number of contacts per 1000 inhabitants in total and per age group per contact type., Results: For the two-month period the Danes had 80/1000 contacts with OOH primary care compared with 50/1000 for the Dutch. The number of contacts per 1000 inhabitants per age group varied between the regions, with the largest difference in the 0-5 years age group and a considerable difference in the young-adult groups (20-35 years). The difference was largest for telephone consultations (47/1000 vs. 20/1000), particularly in the youngest age group (154/1000 vs. 39/1000). The Danes also had more home visits than the Dutch (10/1000 vs. 5/1000), while the Dutch had slightly more clinic consultations per 1000 inhabitants than the Danes (25/1000 vs. 23/1000)., Conclusion: The Danish population has more contacts with OOH primary care, particularly telephone consultations, especially concerning young patients. Future research should focus on the relevance of contacts and identification of factors related to consumption in OOH primary care.

Introduction: The aetiology of congenital clubfoot is unclear. Although studies on populations, families, and twins suggest a genetic component to the aetiology, other studies have identified environmental factors. The purpose of this study was to calculate heritability in order to determine to what extent genetic and/or environmental factors contribute to the aetiology of congenital clubfoot and to asses whether there was a change in the prevalence over time., Materials and Methods: The Odense based Danish Twin Registry is unique as it contains data on all the approximately 85,000 twin pairs born in Denmark over the last 140 years. All 46,418 twin individuals born from 1931 through 1982, who had earlier consented to contact, received a 17-page Omnibus questionnaire in the spring of 2002. Data were analysed with structural equation models to identify the best fitting aetiological model based on a balance of goodness-of-fit and parsimony and to estimate heritability., Results: We found an overall self-reported prevalence of congenital clubfoot of 0.0027 (95 % confidence interval 0.0022-0.0034). Fifty-five complete (both twins answered the question) twin pairs were identified representing 12 monozygotic, 22 same-sex dizygotic, 18 opposite-sex dizygotic, and 3 with unclassified zygosity. The model with only environmental factors (CE) was best fitting based on AIC, and the model with an additive genetic factor (ACE) came in second. Due to the small statistical power, we hypothesise that the model with both genetic and environmental effects (ACE) was the better model. Choosing the ACE-model we found a heritability of clubfoot of 30 %. Regression coefficient for age was -0.002 (-0.011 to 0.005), indicating that there has been no change in prevalence of clubfoot over the 50-year age span we examined., Discussion: We conclude that non-genetic factors must play a role, and a genetic factor might contribute, in the aetiology of congenital clubfoot.

Introduction: Iatrogenic dural tear with cerebrospinal fluid leakage is a known complication of lumbar surgery of the columna. In the literature, the incidence is 3-16%., Material and Methods: The study was a retrospective, consecutive review of electronic patient records after spinal surgery at the Private Hospital Hamlet. The study covers cases from the 10-month period from September 1, 2007 to June 30, 2008. Data was collected after this period and consists of surgeon-documented dural tears. At the time of surgery, the surgeon was unaware that there would be a subsequent registration. A total of 634 patients had lumbar neural decompressive surgery - 479 patients were treated for spinal stenosis and 155 for prolapsed disc., Results: The incidence of dural tear was 3.9% (25 dural tears in 634 operations). The risk of a dural tear after secondary surgery was 7.9% versus 3.3% for primary (p = 0.02) and the mean age was 65.9 years for patients with dural tear compared with 58.1 years for patients without (p = 0.00). The difference in the mean duration of surgery was significant being 72 minutes in the group suffering a dural tear compared with 56 minutes (p = 0.03) among the remaining patients, and in the former group length of stay was increased by 1.1 day (p = 0.00)., Conclusion: The incidence of iatrogenic dural tear was 3.9%. The incidence of dural tear was doubled in secondary surgery. The duration of surgery increased by 16 minutes and the patients with dural tear were also hospitalized one day longer.

Background: The purpose of this study was to establish a cohort of symptomatic twins with Scheuermann kyphosis to provide estimates of prevalence, concordance, odds ratio, and heritability. These estimates indicate to what extent genetic factors contribute to the etiology of this disease., Methods: The Odense-based Danish Twin Registry is unique in that it contains data on all 73,000 twin pairs born in Denmark over the last 130 years. For the present study, all 46,418 twins born from 1931 through 1982 received a seventeen-page questionnaire, in which one question was "Have you been diagnosed with Scheuermann disease by a doctor"? The prevalence of self-reported Scheuermann disease was calculated, with the total number of answers used as the general population. Pairwise and probandwise concordance, odds ratio, tetrachoric correlations, and heritability were calculated., Results: We found that the overall prevalence of Scheuermann disease was 2.8%, with a prevalence of 2.1% among women and 3.6% among men (p < 0.0001). The pairwise concordance for monozygotic twins was 0.19 compared with 0.07 for dizygotic twins. The probandwise concordance was 0.31 for monozygotic twins and 0.13 for dizygotic twins. The odds ratios were 32.92 and 6.25 in the monozygotic and dizygotic twins, respectively. These differences were significant (p < 0.01). Heritability was 74%., Conclusions: In a large cohort of twins that included almost 35,000 individuals, the self-reported overall prevalence of Scheuermann disease was 2.8% and the male-to-female ratio was close to 2:1. Because the pairwise and probandwise concordance and the odds ratio were two to three times higher in monozygotic than in dizygotic twins and the heritability was high, we concluded that there is a major genetic contribution to the etiology of Scheuermann disease.