2,360 research outputs found

    Treatment of Postoperative Instability Following Total Knee Arthroplasty in Patients With Parkinson’s DiseaseKEY POINTS

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    Acute postoperative posterior total knee arthroplasty (TKA) dislocation is rare in primary surgery but has been associated with Parkinson’s disease (PD). We present a 77-year-old woman with knee arthritis and PD who sustained an acute, recurrent TKA posterior dislocation, recalcitrant to polyethylene upsizing. Transient stability was obtained for a period of 1 year after postoperative hamstring injection with botulinum toxin A and short-term immobilization. Spontaneous instability recurred after 1 year, and stability was obtained with revision to a more constrained construct and has been monitored over a period of 2 years. This is the first report demonstrating the use of botulinum toxin A for acute posterior TKA instability associated with PD. We endorse the necessity of increased constraint to maintain long-term stability in patients with Parkinson’s disease

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the ‚ÄúClinVar low-hanging fruit‚ÄĚ reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The ‚ÄúClinVar low-hanging fruit‚ÄĚ analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

    THE MARKER BAND IN GALE CRATER:: A SYNTHESIS OF ORBITAL AND GROUND OBSERVATIONS

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    International audienceThe ‚ÄúMarker Band‚ÄĚ (previously called the Marker Bed and Marker Horizon [1-4]) in Gale crater is a distinctive indurated and dark-toned unit observed in the strata of Mount Sharp. From orbital data, the Marker Band (MB) was mapped across much of the western and southern edges of Mount Sharp, spanning over 80 km in distance and 1.6 km in elevation [4]. CRISM spectra of the MB show no hydration signatures and broad absorptions around~1 and 2 őľm interpreted to be from high-Ca pyroxene [4]. Favored origins for the MB based upon orbital observations included a more indurated sulfate, a sandstone, and a volcanic ash deposit. The Curiosity rover recently reached the MB and is now collecting critical in situ measurements to test these postulated and other origins and make new discoveries at the finer mm- to cm-scale that could not be assessed from orbital data. Here we provide a summary of several of the most crucial MB observations made by the rover thus far from sols 3640-3645 and 3668-present

    The Association between Early Childhood and Later Childhood Sugar-Containing Beverage Intake: A Prospective Cohort Study

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    Sugar-containing beverages (SCBs) are a major source of sugar intake in children. Early life intake of SCBs may be a strong predictor of SCB intake later in life. The primary objective of this study was to evaluate if SCB intake (defined as 100% fruit juice, soda, and sweetened drinks) in early childhood (‚ȧ2.5 years of age) was associated with SCB intake in later childhood (5-9 years of age). A prospective cohort study was conducted using data from the TARGet Kids! primary care practice network (n = 999). Typical daily SCB intake was measured by parent-completed questionnaires. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using logistic regression. A total of 43% of children consumed ‚Č•0.5 cups/day of SCBs at ‚ȧ2.5 years and this increased to 64% by 5-9 years. Daily SCB intake, compared to no daily intake, at ‚ȧ2.5 years was significantly associated with SCB intake at 5-9 years (adjusted OR: 4.03; 95% CI: 2.92-5.55) and this association was much stronger for soda/sweetened drinks (adjusted OR: 12.83; 95% CI: 4.98, 33.0) than 100% fruit juice (OR: 3.61; 95% CI: 2.63-4.95). Other early life risk factors for SCB intake at 5-9 years were presence of older siblings, low household income, and shorter breastfeeding duration. Daily intake of SCBs in early childhood was strongly associated with greater SCB intake in later childhood. Early life may be an important period to target for population prevention strategies.¬†</p

    Measures of carotid atherosclerosis and fall-related hospitalization risk: The Perth Longitudinal Study of Ageing Women

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    Background and aims: We and others have identified links between cardiovascular conditions and poor musculoskeletal health. However, the relationship between measures of carotid atherosclerosis such as focal carotid plaque and common carotid intima media thickness (CCA-IMT) and falls remains understudied. This study examined the association between measures of carotid atherosclerosis and fall-related hospitalization over 11.5 years in community dwelling older women. Methods and results: 1116 older women recruited in 1998 to a five-year randomized controlled trial to examine the effect of calcium supplementation in preventing fracture and who had undertaken B-mode ultrasound in 2001 (three years after the baseline clinical visit) were included in this study. The participants were followed for over 11.5 years as Perth Longitudinal Study of Ageing Women (PLSAW). Over the follow up period, 428 (38.4 %) women experienced a fall-related hospitalization. Older women with carotid plaque had 44 % a higher relative hazard for fall-related hospitalization (HR 1.44; 95 % CI, 1.18 to 1.76) compared to those without carotid plaque. The association persisted after adjustment for established falls risk factors such as measures of muscle strength and physical function.Each SD increase in the mean and maximum CCA-IMT was also associated with a higher risk of fall-related hospitalizations (HR 1.10; 95 % CI, 1.00 to 1.21 and HR 1.11; 95 % CI, 1.01 to 1.22, respectively). Conclusions: Measures of carotid atherosclerosis are associated with a higher risk of fall-related hospitalization independent of established falls risk factors. These findings suggest the importance of vascular health when considering falls risk

    Accuracy of COVID-19‚ÄďLike Illness Diagnoses in Electronic Health Record Data: Retrospective Cohort Study

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    BackgroundElectronic health record (EHR) data provide a unique opportunity to study the epidemiology of COVID-19, clinical outcomes of the infection, comparative effectiveness of therapies, and vaccine effectiveness but require a well-defined computable phenotype of COVID-19‚Äďlike illness (CLI). ObjectiveThe objective of this study was to evaluate the performance of pathogen-specific and other acute respiratory illness (ARI) International Statistical Classification of Diseases-9 and -10 codes in identifying COVID-19 cases in emergency department (ED) or urgent care (UC) and inpatient settings. MethodsWe conducted a retrospective observational cohort study using EHR, claims, and laboratory information system data of ED or UC and inpatient encounters from 4 health systems in the United States. Patients who were aged ‚Č•18 years, had an ED or UC or inpatient encounter for an ARI, and underwent a SARS-CoV-2 polymerase chain reaction test between March 1, 2020, and March 31, 2021, were included. We evaluated various CLI definitions using combinations of International Statistical Classification of Diseases-10 codes as follows: COVID-19‚Äďspecific codes; CLI definition used in VISION network studies; ARI signs, symptoms, and diagnosis codes only; signs and symptoms of ARI only; and random forest model definitions. We evaluated the sensitivity, specificity, positive predictive value, and negative predictive value of each CLI definition using a positive SARS-CoV-2 polymerase chain reaction test as the reference standard. We evaluated the performance of each CLI definition for distinct hospitalization and ED or UC cohorts. ResultsAmong 90,952 hospitalizations and 137,067 ED or UC visits, 5627 (6.19%) and 9866 (7.20%) were positive for SARS-CoV-2, respectively. COVID-19‚Äďspecific codes had high sensitivity (91.6%) and specificity (99.6%) in identifying patients with SARS-CoV-2 positivity among hospitalized patients. The VISION CLI definition maintained high sensitivity (95.8%) but lowered specificity (45.5%). By contrast, signs and symptoms of ARI had low sensitivity and positive predictive value (28.9% and 11.8%, respectively) but higher specificity and negative predictive value (85.3% and 94.7%, respectively). ARI diagnoses, signs, and symptoms alone had low predictive performance. All CLI definitions had lower sensitivity for ED or UC encounters. Random forest approaches identified distinct CLI definitions with high performance for hospital encounters and moderate performance for ED or UC encounters. ConclusionsCOVID-19‚Äďspecific codes have high sensitivity and specificity in identifying adults with positive SARS-CoV-2 test results. Separate combinations of COVID-19-specific codes and ARI codes enhance the utility of CLI definitions in studies using EHR data in hospital and ED or UC settings

    The Science Performance of JWST as Characterized in Commissioning

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    This paper characterizes the actual science performance of the James Webb Space Telescope (JWST), as determined from the six month commissioning period. We summarize the performance of the spacecraft, telescope, science instruments, and ground system, with an emphasis on differences from pre-launch expectations. Commissioning has made clear that JWST is fully capable of achieving the discoveries for which it was built. Moreover, almost across the board, the science performance of JWST is better than expected; in most cases, JWST will go deeper faster than expected. The telescope and instrument suite have demonstrated the sensitivity, stability, image quality, and spectral range that are necessary to transform our understanding of the cosmos through observations spanning from near-earth asteroids to the most distant galaxies

    The Science Performance of JWST as Characterized in Commissioning

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    This paper characterizes the actual science performance of the James Webb Space Telescope (JWST), as determined from the six month commissioning period. We summarize the performance of the spacecraft, telescope, science instruments, and ground system, with an emphasis on differences from pre-launch expectations. Commissioning has made clear that JWST is fully capable of achieving the discoveries for which it was built. Moreover, almost across the board, the science performance of JWST is better than expected; in most cases, JWST will go deeper faster than expected. The telescope and instrument suite have demonstrated the sensitivity, stability, image quality, and spectral range that are necessary to transform our understanding of the cosmos through observations spanning from near-earth asteroids to the most distant galaxies.Comment: 5th version as accepted to PASP; 31 pages, 18 figures; https://iopscience.iop.org/article/10.1088/1538-3873/acb29
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