Cognitive assistance to support individuals with traumatic brain injury using a minimal and personalised approach: A conversion mixed methods study using video analysis.

INTRODUCTION: Individuals with traumatic brain injury (TBI) frequently need assistance to manage complex everyday activities. However, little is known about the types of cognitive assistance that can be used to facilitate optimal independence. A conversion mixed method study using video analysis was conducted to describe assistance provided by trained occupational therapists during three everyday tasks carried out in the participants' homes and surrounding environments. METHODS: Forty-five people with moderate and severe TBI were tested by three occupational therapists using the Instrumental Activities of Daily Living Profile, an observation-based assessment that documents independence in complex everyday activities and the minimal assistance required to attain task goals. Using video analysis, difficulties experienced by the people with TBI during a meal preparation and grocery shopping task, and the cognitive assistance provided by the occupational therapists in response to these difficulties, were documented. Statistical analyses were also completed to identify the main difficulties and types of cognitive assistance provided during the evaluation, for the whole group and depending on their level of independence. RESULTS: Nine types of cognitive assistance were used by occupational therapists, including implicit (stimulating thought processes), and more explicit assistance (cueing), to facilitate task performance. When needed, motivational assistance, which consisted of encouraging participants to think for themselves, was also used. Stimulating thought processes was mostly used to support goal formulation and planning, whereas cueing was used in numerous instances. Participants with lower levels of independence received more assistance of almost all types to support them. CONCLUSION: Using these findings, training could be developed for caregivers and occupational therapists to support them in providing minimal and personalised cognitive assistance. Further research is needed to examine the extent to which all types of cognitive assistance are effective in helping various cognitive profiles of people with TBI attain optimal independence.

An external validation of the Kidney Donor Risk Index in the UK transplant population in the presence of semi-competing events.

BACKGROUND: Transplantation represents the optimal treatment for many patients with end-stage kidney disease. When a donor kidney is available to a waitlisted patient, clinicians responsible for the care of the potential recipient must make the decision to accept or decline the offer based upon complex and variable information about the donor, the recipient and the transplant process. A clinical prediction model may be able to support clinicians in their decision-making. The Kidney Donor Risk Index (KDRI) was developed in the United States to predict graft failure following kidney transplantation. The survival process following transplantation consists of semi-competing events where death precludes graft failure, but not vice-versa. METHODS: We externally validated the KDRI in the UK kidney transplant population and assessed whether validation under a semi-competing risks framework impacted predictive performance. Additionally, we explored whether the KDRI requires updating. We included 20,035 adult recipients of first, deceased donor, single, kidney-only transplants between January 1, 2004, and December 31, 2018, collected by the UK Transplant Registry and held by NHS Blood and Transplant. The outcomes of interest were 1- and 5-year graft failure following transplantation. In light of the semi-competing events, recipient death was handled in two ways: censoring patients at the time of death and modelling death as a competing event. Cox proportional hazard models were used to validate the KDRI when censoring graft failure by death, and cause-specific Cox models were used to account for death as a competing event. RESULTS: The KDRI underestimated event probabilities for those at higher risk of graft failure. For 5-year graft failure, discrimination was poorer in the semi-competing risks model (0.625, 95% CI 0.611 to 0.640;0.611, 95% CI 0.597 to 0.625), but predictions were more accurate (Brier score 0.117, 95% CI 0.112 to 0.121; 0.114, 95% CI 0.109 to 0.118). Calibration plots were similar regardless of whether the death was modelled as a competing event or not. Updating the KDRI worsened calibration, but marginally improved discrimination. CONCLUSIONS: Predictive performance for 1-year graft failure was similar between death-censored and competing event graft failure, but differences appeared when predicting 5-year graft failure. The updated index did not have superior performance and we conclude that updating the KDRI in the present form is not required.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/- mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1+/- mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1+/- brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course.

Exploring parental cystic fibrosis disclosure to well children.

Cystic fibrosis (CF), a genetic disease and chronic illness, affects multiple organ systems and requires exceptional medical care and treatment. Few studies have assessed the diagnosis disclosure process to well children when their sibling(s) have CF, and none have evaluated the association between parental knowledge of CF and the disclosure of CF. The objectives of this study were to assess parental understanding of CF, demonstrate the most commonly shared topics and their frequencies of discussion with well children, and identify associations between parental understanding of CF and aspects of the disclosure process to well children. Parents were recruited from CF support organizations and asked to complete an online, anonymous survey. Individuals were eligible to participate in the study if they had at least one living child with CF and at least one living child without CF. Completed surveys from 48 individuals revealed that most parents began discussing a sibling's diagnosis of CF with the first-born well child at 5.4 years old. Topics related to CF were discussed openly and as needed with their well children (n = 44). The most frequently discussed topic, and the topic ranked most important (1.93 of 5, SD: 1.17) by 40 participants (90.9%), was medical concerns and treatment for CF. Fewer parents (n = 18, 40.9%) reported discussing the financial impact of CF, and many ranked this as least important to share (4.64 of 5, SD: 0.75). The CF knowledge assessment revealed that participants were well-informed about CF, with a mean total score of 8.9/10 (SD: 0.91). There were no associations between CF knowledge assessment scores, education level, income, and the topics discussed with well children. These results can be utilized by genetic counselors and other healthcare specialists in discussion with parents about the disclosure process of a diagnosis of CF to well children.

Using Information Available at the Time of Donor Offer to Predict Kidney Transplant Survival Outcomes: A Systematic Review of Prediction Models.

Statistical models that can predict graft and patient survival outcomes following kidney transplantation could be of great clinical utility. We sought to appraise existing clinical prediction models for kidney transplant survival outcomes that could guide kidney donor acceptance decision-making. We searched for clinical prediction models for survival outcomes in adult recipients with single kidney-only transplants. Models that require information anticipated to become available only after the time of transplantation were excluded as, by that time, the kidney donor acceptance decision would have already been made. The outcomes of interest were all-cause and death-censored graft failure, and death. We summarised the methodological characteristics of the prediction models, predictive performance and risk of bias. We retrieved 4,026 citations from which 23 articles describing 74 models met the inclusion criteria. Discrimination was moderate for all-cause graft failure (C-statistic: 0.570-0.652; Harrell's C: 0.580-0.660; AUC: 0.530-0.742), death-censored graft failure (C-statistic: 0.540-0.660; Harrell's C: 0.590-0.700; AUC: 0.450-0.810) and death (C-statistic: 0.637-0.770; Harrell's C: 0.570-0.735). Calibration was seldom reported. Risk of bias was high in 49 of the 74 models, primarily due to methods for handling missing data. The currently available prediction models using pre-transplantation information show moderate discrimination and varied calibration. Further model development is needed to improve predictions for the purpose of clinical decision-making. Systematic Review Registration: https://osf.io/c3ehp/l.

Providing Verbal Assistance When Assessing Individuals Living with a Traumatic Brain Injury.

Background. Occupational therapists play a major role in identifying the assistance needs of individuals living with a traumatic brain injury. However, to obtain an accurate assessment, verbal assistance should be provided only when necessary, according to the person's needs. Purpose. This study aimed to understand (1) how verbal assistance is provided during an evaluation of Instrumental Activities of Daily Living and (2) why it is provided in this manner. Method. Interviews were conducted with three expert occupational therapists using their own videotaped evaluation and a "think-aloud" method to explore their clinical reasoning when providing verbal assistance. Data were analyzed using thematic analysis. Findings. The process of providing verbal assistance was recognized as flexible and nonlinear, and influenced by various factors including the participants' level of understanding of the client's abilities. Implications. This information will help therapists better understand how and when to provide verbal assistance when assessing their clients.

Emergence and fate of volatile iodinated organic compounds during biological treatment of oil and gas produced water.

Oil and gas (O&G) production in the United States is expected to grow at a substantial rate over the coming decades. Environmental sustainability related to water consumption during O&G extraction can be addressed through treatment and reuse of water returning to the surface after well completion. Water quality is an important factor in reuse applications, and specific treatment technologies must be utilized to remove different contaminants. Among others, biological active filtration can remove dissolved organic matter as a pre-treatment for surface discharge or to facilitate reuse in such applications as hydraulic fracturing, dust suppression, road stabilization, and crop irrigation. Yet, the formation of byproducts during treatment of O&G wastewater remains a concern when evaluating reuse applications. In this study, we investigated the previously unnoticed biotic formation of iodinated organic compounds (IOCs) such as triiodomethane during biological treatment of O&G wastewater for beneficial reuse. Iodide and several IOCs were quantified in O&G produced water before and after treatment in biological active filters filled with different media types over 13 weeks of operation. While iodide and total IOCs were measured at concentrations <53 mg/L and 147 µg/L, respectively, before biological treatment, total IOCs were measured at concentrations close to 4 mg/L after biological treatment. Triiodomethane was the IOC that was predominantly present. IOC formation had a negative strong correlation (r = -0.7 to -0.8, p < 0.05, n = 9) with iodide concentration in the treated O&G wastewater, indicating that iodide introduced to the biological active filter system was utilized in various reactions, including biologically mediated halogenation of organic matter. Additionally, iodide-oxidizing bacteria augmented in the treated produced water pointed towards potential negative environmental implications when releasing biologically treated halide-rich wastewater effluents to the aquatic environment.

Simultaneous ozone and granular activated carbon for advanced treatment of micropollutants in municipal wastewater effluent.

The main objective of this study was to compare the efficacy of ozone (O3) and O3 with granular activated carbon (GAC) (O3/GAC) at pilot-scale for the enhanced removal of micropollutants (MPs) from wastewater effluent. The results revealed enhanced removal of tris (2-carboxylethyl) phosphine (TCEP), sucralose, and meprobamate during the O3/GAC treatment experiments compared to the sum of their removal during isolated ozonation and GAC adsorption experiments. The long-term O3/GAC experiment showed the promotive effect of GAC substantially decreased after 20 h of O3 exposure. This decreased performance correlates with changes to GAC surface properties caused by O3. After 6 h of operation, O3 initially led to an increase in Brunauer-Emmett-Teller (BET) surface area on the GAC improving the elimination level of investigated MPs (except N-nitrosomorpholine (NMOR)). However, after 20 h of exposure, O3 ultimately caused structural damages to the GAC surface, decreased the BET surface area in the final stages of the experiment, and a 4-fold increase in O1s:C1s ratio on the GAC surface was observed due to an increase in surface acidic functional groups caused by O3 treatment.

Enhanced biofiltration of O&G produced water comparing granular activated carbon and nutrients.

Large volumes of water are required for the development of unconventional oil and gas (O&G) wells. Water scarcity coupled with seismicity induced by deep-well disposal promote new O&G wastewater management strategies, specifically treatment and reuse. One technology that has been proven effective for removal of organic matter and solids is biologically active filtration (BAF) with granular active carbon (GAC); however, further optimization is needed to enhance BAF performance. This study evaluated three GAC media (one spent and two new) and two nutrient-mix supplements for enhanced removal of chemical oxygen demand (COD) and dissolved organic carbon (DOC). Biofilm development was also monitored and correlated to BAF performance. The spent GAC with extant biofilm quickly acclimated to PW and demonstrated up to 92% DOC removal (81% COD) in 24h, while little impact by nutrient addition was observed. In addition, virgin GAC was slow to establish a biofilm, indicating that appropriate GAC selection and pre-developed biofilm is critical for efficient BAF performance. Furthermore, the production of high quality BAF effluent (less than 20mg/L DOC) presents the opportunity to apply BAF as a pretreatment for subsequent desalination-expanding the potential for reuse applications of PW.

Tracking oil and gas wastewater-derived organic matter in a hybrid biofilter membrane treatment system: A multi-analytical approach.

Dissolved organic matter (DOM) present in oil and gas (O&G) produced water and fracturing flowback was characterized and quantified by multiple analytical techniques throughout a hybrid biological-physical treatment process. Quantitative and qualitative analysis of DOM by liquid chromatography - organic carbon detection (LC-OCD), liquid chromatography-high-resolution mass spectrometry (LC-HRMS), gas chromatography-mass spectrometry (GC-MS), and 3D fluorescence spectroscopy, demonstrated increasing removal of all groups of DOM throughout the treatment train, with most removal occurring during biological pretreatment and some subsequent removal achieved during membrane treatment. Parallel factor analysis (PARAFAC) further validated these results and identified five fluorescent components, including DOM described as humic acids, fulvic acids, proteins, and aromatics. Tryptophan-like compounds bound by complexation to humics/fulvics were most difficult to remove biologically, while aromatics (particularly low molecular weight neutrals) were more challenging to remove with membranes. Strong correlation among PARAFAC, LC-OCD, LC-HRMS, and GC-MS suggests that PARAFAC can be a quick, affordable, and accurate tool for evaluating the presence or removal of specific DOM groups in O&G wastewater.

Patient-reported outcome scores underestimate the impact of major complications in patients undergoing spine surgery for degenerative conditions.

OBJECTIVE Patient-reported outcomes (PROs) such as the Oswestry Disability Index (ODI) and EuroQol-5D (EQ-5D) are widely used to evaluate treatment outcomes following spine surgery for degenerative conditions. The goal of this study was to use the Charlson Comorbidity Index (CCMI) as a measure of general health status, for comparison with standard PROs. METHODS The authors examined serial CCMI scores, complications, and PROs in 371 patients treated surgically for degenerative lumbar spine conditions who were enrolled in the Quality and Outcomes Database from a single center. The cohort included 152 males (41%) with a mean age of 58.7 years. Patients with no, minor, or major complications were compared at baseline and at 1 year postoperatively. RESULTS Minor complications were observed in 177 patients (48%), and major complications in 34 (9%). There were no significant differences in preoperative ODI, EQ-5D, or CCMI among the 3 groups. At 1 year, there was a significantly greater deterioration in CCMI in the major complication group (1.03) compared with the minor (0.66) and no complication groups (0.44, p < 0.006), but no significant difference in ODI or EQ-5D. CONCLUSIONS Despite equivalent improvements in PROs, patients with major complications actually had greater deterioration in their general health status, as evidenced by worse CCMI scores. Because CCMI is predictive of medical and surgical risk, patients who sustained a major complication now carry a greater likelihood of adverse outcomes with future interventions, including subsequent spine surgery. Although PRO scores are a key metric, they fail to adequately reflect the potential long-term impact of major perioperative complications.

Cementless Tapered Femoral Stems for Total Hip Arthroplasty in Octogenarians.

BACKGROUND: The use of cementless femoral components has become the standard in younger patients due to increased implant survivorship and decreased loosening. However, it remains controversial whether these femoral stems can provide comparable results in elderly patients. Therefore, our purpose was to compare the (1) incidence of revisions; (2) clinical outcomes; (3) incidence of postoperative blood transfusions; and (4) differences in complications between the 2 cohorts. METHODS: Seventy-four consecutive patients (78 hips) aged 80 years or older, who underwent primary total hip arthroplasty using a cementless, tapered, femoral stem were retrospectively compared with a matched cohort of 76 patients (78 hips) who were less than 80 years. Mean age was 83 years (range, 80-91 years) vs 59 years (range, 17-79 years) for the matched group. Minimum follow-up was 2 years. Revision rates, clinical outcomes using the Harris Hip Score, incidences of complications, and postoperative transfusion rates were evaluated. RESULTS: In the octogenarian cohort, the aseptic survivorship was 99%, compared with 95% in the matched group. There were 2 aseptic loosenings (2.6%): 1 femoral implant loosening (1.3%) and 1 acetabular loosening, but only 1 revision was performed, as one of the patients declined revision surgery. In the matched cohort, there were 6 revisions (7.7%). There were no significant differences in revision rates between the 2 cohorts, and no significant differences in final Harris Hip Score scores. The incidence of blood transfusion in the study group was 42% vs 19% in control group (P < .01). CONCLUSION: The use of cementless, tapered, femoral stems yielded excellent results in the octogenarian group, although adequate patient preoperative optimization is necessary given the significantly higher transfusion incidence.

A multicenter study of the family educational rights and privacy act and the standardized letter of recommendation: impact on emergency medicine residency applicant and faculty behaviors.

BACKGROUND: Residency applicants have the right to see letters of recommendation written on their behalf. It is not known whether applicants are affected by waiving this right. OBJECTIVES: Our multicenter study assessed how frequently residency applicants waived their FERPA rights to view their letters of recommendation, and whether this affected the ratings they were given by faculty. METHODS: We reviewed all ERAS-submitted letters of recommendation to 14 ACGME-accredited programs in 2006-2007. We collected ERAS ID, program name, FERPA declaration, standardized letter of recommendation (SLOR) use, and SLOR Global Assessment ranking. The percentage of applicants who waived their FERPA rights was determined. Chi-square tests of independence assessed whether applicants' decision to waive their FERPA rights was associated with their SLOR Global Assessment. RESULTS: We examined 1776 applications containing 6424 letters of recommendations. Of 2736 letters that specified a Global Assessment, 2550 (93%) applicants waived their FERPA rights, while 186 did not. Of the applicants who chose not to waive their rights, 45.6% received a ranking of Outstanding, 35.5% Excellent, 18.3% Very Good, and 1.6% Good. Of applicants who waived their FERPA rights, 35.1% received a ranking of Outstanding, 49.6% Excellent, 13.7% Very Good, and 1.6% Good. Applicants who did not waive their FERPA rights were more likely to receive an Outstanding Assessment (P  =  .003). CONCLUSIONS: The majority (93%) of residency applicants waived their FERPA rights. Those who did not waive their rights had a statistically higher chance of receiving an Outstanding Assessment than those who did.

The Family Education Rights and Privacy Act's impact on residency applicant behavior and recommendations: a pilot study.

BACKGROUND: The Family Education Rights and Privacy Act (FERPA) provides residency applicants the right to view letters of recommendation. Applicants must indicate whether they waive this right. OBJECTIVES: We determined how frequently applicants to an emergency medicine residency program waived the right to view letters of recommendation and whether such decisions impacted the letters' contents. METHODS: A retrospective, observational review of all letters of recommendation submitted to an emergency medicine residency program in 2005-2006 determined applicants' FERPA declaration, use of the Standardized Letter of Recommendation (SLOR), and the SLOR Global Assessment ranking. The percentage of applicants waiving FERPA rights was determined. Chi-squared tests of independence assessed whether applicants' decisions influenced the SLOR Global Assessment. All statistical analysis used a 5% level of significance. RESULTS: There were 367 applications received; 1120 letters of recommendation accompanied 264 US medical school applications, 449 (40%) using the SLOR format. Of the SLORs, only 6% stated that the applicant did not waive his FERPA right; 426 SLORs included a Global Assessment. Of those waiving FERPA rights, 30% were ranked "Outstanding," 50% "Excellent," 17% "Very Good," and 3% "Good." For those not waiving FERPA rights, 35% were ranked as "Outstanding," 46% "Excellent," 15% "Very Good," and 4% "Good." There was no statistical difference in Global Assessment ranking between applicants who waived FERPA rights and those who did not (p = 0.934). CONCLUSIONS: In this pilot study, the vast majority of applicants waived FERPA rights to view letters of recommendation. The applicants' decisions did not influence their SLOR Global Assessment ranking.

A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk.

Rare, highly penetrant germ line mutations in BRCA1 strongly predispose women to a familial form of breast and ovarian cancer. Whether common variants (either coding or noncoding) at this locus contribute to the more common form of the disease is not yet known. We tested common variation across the BRCA1 locus in African American, Native Hawaiian, Japanese, Latino, and White women in the Multiethnic Cohort Study. Specifically, 28 single nucleotide polymorphisms (SNPs) spanning the BRCA1 gene were used to define patterns of common variation in these populations. The majority of SNPs were in strong linkage disequilibrium with one another, indicating that our survey captured most of the common inherited variation across this gene. Nine tagging SNPs, including five missense SNPs, were selected to predict the common BRCA1 variants and haplotypes among the non-African American groups (five additional SNPs were required for African Americans) and genotyped in a breast cancer case-control study nested in the Multiethnic Cohort Study (cases, n = 1,715; controls, n = 2,502). We found no evidence for significant associations between common variation in BRCA1 and risk of breast cancer. Given the large size of our study population and detailed analysis of the locus, this result indicates either that common variants in BRCA1 do not substantially influence sporadic breast cancer risk, or that unmeasured heterogeneity in the breast cancer phenotype or unmeasured interactions with genetic or environmental exposures obscure our ability to detect any influence that may be present.

Common genetic variation in the sex steroid hormone-binding globulin (SHBG) gene and circulating shbg levels among postmenopausal women: the Multiethnic Cohort.

SHBG transports sex steroid hormones in the blood, and levels in humans are thought to partially be genetically determined. Recently, studies have found a pentanucleotide (TAAAA)n repeat polymorphism in the promoter of the SHBG gene and a missense polymorphism in exon 6 (Asp327Asn) to predict circulating SHBG levels. Based on the potential role of common genetic variation in SHBG to serve as a marker of SHBG levels in the general population, we evaluated the association between the (TAAAA)n repeat polymorphism, Asp327Asn polymorphism, and SHBG levels in a population of African-American, Native Hawaiian, Japanese, Latina, and white healthy postmenopausal women from the Multiethnic Cohort Study (n = 372). Mean SHBG levels were not significantly different between carriers and noncarriers of the Asn327 allele [minor allele frequency range across ethnic groups, 0.02-0.14; Asp/Asn and Asn/Asn genotypes, 33.6 mol/liter; 95% confidence interval (CI), 28.2-40.0; n = 49; Asp/Asp genotype, 30.8 mol/liter (95% CI, 28.7-33.1; n = 296); P = 0.37]. For the repeat polymorphism, we observed six different SHBG repeat alleles segregating in the population (TAAAA6-11), and the distribution of these alleles varied widely across populations. We found suggestive evidence of linkage disequilibrium between the Asn327 allele and the eight-repeat allele in all populations except African-Americans (P > or = 0.08). In analysis of the repeat polymorphism, SHBG levels among carriers of two short alleles (seven or fewer repeats; 31.2 nmol/liter; 95% CI, 27.3-35.6; n = 82) were not statistically different from those of carriers of two long alleles (more than seven repeats; 32.7 nmol/liter; 95% CI, 29.4-36.3; n = 124; P = 0.59). We did, however, observe individual genotypic classes (n = 16) to contribute modestly to the overall prediction of SHBG levels (by analysis of covariance, P = 0.03). Carriers of the six-repeat allele (27.9 nmol/liter; 95% CI, 25.2-30.8; n = 147) were found to have nominally significantly lower SHBG levels than noncarriers (32.4 nmol/liter; 95% CI, 29.7-35.2; n = 202; P = 0.03). This effect was stronger among the subset of women who also carried the Asn327 allele (interaction, P = 0.006). In summary, these results suggest that genetic variation at the SHBG locus may contribute to modest differences in SHBG levels among healthy postmenopausal women, and that much larger studies will be needed to better comprehend the effects of common variations at this locus in predicting circulating SHBG levels.