Socioeconomic Status and CD4 Count Among People with HIV Who Inject Drugs in St. Petersburg, Russia.

Lack of access to resources is a "fundamental cause" of poor HIV outcomes across the care cascade globally and may have the greatest impact on groups with co-existing marginalized identities. In a sample of people living with HIV (PWH) who inject drugs and were not on antiretroviral therapy (ART), we explored associations between access to resources and HIV severity. Fundamental Cause Theory (FCT) sees socioeconomic status/access to resources as a root cause of disease and emphasizes that individuals with limited resources have fewer means to mitigate health risks and implement protective behaviors, which ultimately generates disparities in health outcomes. Guided by the FCT, we hypothesized that resource depletion (primary aim) and lower income (secondary aim) were associated with increased HIV severity. Using baseline data from the Linking Infectious and Narcology Care (LINC-II) trial of ART-naive PWH who inject drugs in St. Petersburg, Russia (n = 225), we examined the association between "past year resource runout" (yes vs. no) and "low-income (< 300 USD a month)" and the outcome HIV severity (CD4 count, continuous). We fit two separate linear regression models adjusted for gender, age, time since HIV diagnosis, and prior ART use. Participants had a mean age of 37.5 years and were 60% male. Two thirds (66%) reported resource depletion, and 30% had income below 300 USD a month. Average CD4 count was 416 cells/mm3 (SD 285). No significant association was identified between either resource depletion or low-income and HIV severity (adjusted mean difference in CD4 count for resource depletion: - 4.16, 95% CI - 82.93, 74.62; adjusted mean difference in CD4 count for low-income: 68.13, 95% CI - 15.78, 152.04). Below-average income and running out of resources were common among PWH who inject drugs and are not on ART in St. Petersburg, Russia. Resource depletion and low-income were not significantly associated with HIV disease severity as captured by CD4 count. The nuanced relationship between socioeconomic status and HIV severity among people with HIV who inject drugs and not on ART merits further examination in a larger sample.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

Sexual and gender minority content in undergraduate medical education in the United States and Canada: current state and changes since 2011.

PURPOSE: To characterize current lesbian, gay, bisexual, transgender, queer, and intersex (LGBTQI +) health-related undergraduate medical education (UME) curricular content and associated changes since a 2011 study and to determine the frequency and extent of institutional instruction in 17 LGBTQI + health-related topics, strategies for increasing LGBTQI + health-related content, and faculty development opportunities. METHOD: Deans of medical education (or equivalent) at 214 allopathic or osteopathic medical schools in Canada and the United States were invited to complete a 36-question, Web-based questionnaire between June 2021 and September 2022. The main outcome measured was reported hours of LGBTQI + health-related curricular content. RESULTS: Of 214 schools, 100 (46.7%) responded, of which 85 (85.0%) fully completed the questionnaire. Compared to 5 median hours dedicated to LGBTQI + health-related in a 2011 study, the 2022 median reported time was 11 h (interquartile range [IQR], 6-16 h, p < 0.0001). Two UME institutions (2.4%; 95% CI, 0.0%-5.8%) reported 0 h during the pre-clerkship phase; 21 institutions (24.7%; CI, 15.5%-33.9%) reported 0 h during the clerkship phase; and 1 institution (1.2%; CI, 0%-3.5%) reported 0 h across the curriculum. Median US allopathic clerkship hours were significantly different from US osteopathic clerkship hours (4 h [IQR, 1-6 h] versus 0 h [IQR, 0-0 h]; p = 0.01). Suggested strategies to increase content included more curricular material focusing on LGBTQI + health and health disparities at 55 schools (64.7%; CI, 54.6%-74.9%), more faculty willing and able to teach LGBTQI + -related content at 49 schools (57.7%; CI, 47.1%-68.2%), and more evidence-based research on LGBTQI + health and health disparities at 24 schools (28.2%; CI, 18.7%-37.8%). CONCLUSION: Compared to a 2011 study, the median reported time dedicated to LGBTQI + health-related topics in 2022 increased across US and Canadian UME institutions, but the breadth, efficacy, or quality of instruction continued to vary substantially. Despite the increased hours, this still falls short of the number of hours based on recommended LGBTQI + health competencies from the Association of American Medical Colleges. While most deans of medical education reported their institutions' coverage of LGBTQI + health as 'fair,' 'good,' or 'very good,' there continues to be a call from UME leadership to increase curricular content. This requires dedicated training for faculty and students.

Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.

Research suggests variants of uncertain significance (VUSs) present a variety of challenges for genetic counselors (GCs), nongenetics clinicians, and patients. Multigene cancer panels reveal more VUSs than single gene testing as a result of the increase in the number of genes being tested. This study surveyed 87 clinical cancer GCs involved with direct patient care and 19 laboratory GCs who provide guidance to clinicians regarding genetic test results about their attitudes on various options for the reporting of VUSs by laboratories for broad multigene cancer panels. Independent samples t-tests were utilized to compare the two groups. Based on a six-point Likert-type scale (1 = Strongly Disagree to 6 = Strongly Agree), clinical cancer GCs (M = 5.4; SD = 0.8) and laboratory GCs (M = 5.2; SD = 0.9) agreed overall that VUSs should be reported (p = 0.44; Cohen's d = 0.21). When asked about specific reporting options, both clinical cancer GCs (M = 1.9; SD = 1.1) and laboratory GCs (M = 2.1; SD = 1.4) disagreed that VUSs should be reported only for genes related to the indication for testing (p = 0.50; Cohen's d = 0.17). Overall, most GCs felt clinicians should not choose whether VUSs should be reported on genetic test results, with clinical cancer GCs (M = 1.9; SD = 1.3) feeling more strongly against it than laboratory GCs (M = 3.1; SD = 1.4; p = 0.002; Cohen's d = 0.88). Generally, GCs were more in favor of VUSs not being reported for population-based screening, with laboratory GCs (M = 4.7; SD = 0.8) agreeing more with that practice than clinical cancer GCs (M = 3.7; SD = 1.4; p = 0.001; Cohen's d = 0.80). Both clinical cancer GCs (M = 4.1; SD = 1.2) and laboratory GCs (M = 3.9; SD = 1.2) agreed additional guidelines on how to approach VUSs in clinical practice should be developed (p = 0.54; Cohen's d = 0.17). While most GCs supported the reporting of VUSs overall, our analyses suggest clinical cancer and laboratory GCs may have different attitudes toward specific VUS-related reporting options. Further research is needed to elucidate GC preferences to help inform best practices for the reporting of VUSs. The development of additional standardized guidelines on how to approach VUSs would further support clinical practice.

Modified Ride-on Car Intervention for Children With Profound Intellectual and Multiple Disabilities: A Case Series.

PURPOSE: To describe a pilot clinical case series of a modified ride-on car (MROC) intervention on mobility and alertness for young children with profound intellectual and multiple disabilities (PIMD). METHODS: Four young children with PIMD participated in 4 baseline observations and 5 intervention sessions (A-B design). Data collection occurred via video. Assessment of mobility and alertness duration used structured visual analysis. RESULTS: Three of the 4 children increased their independent mobility during the intervention sessions. One of the 4 children increased their active alertness during the intervention sessions. CONCLUSIONS: This pilot study demonstrates the initial feasibility of an MROC intervention in a clinical setting and outcome measures of mobility and alertness for children with PIMD. This provides support that this population should be considered for power mobility in early childhood. Further, this study used a novel, caregiver-implemented prompting protocol to teach children how to use the MROC.

Variation in Initiation, Engagement, and Retention on Medications for Opioid Use Disorder Based on Health Insurance Plan Design.

BACKGROUND: The association between cost-sharing and receipt of medication for opioid use disorder (MOUD) is unknown. METHODS: We constructed a cohort of 10,513 commercially insured individuals with a new diagnosis of opioid use disorder and information on insurance cost-sharing in a large national deidentified claims database. We examined 4 cost-sharing measures: (1) pharmacy deductible; (2) medical service deductible; (3) pharmacy medication copay; and (4) medical office copay. We measured MOUD (naltrexone, buprenorphine, or methadone) initiation (within 14 d of diagnosis), engagement (second receipt within 34 d of first), and 6-month retention (continuous receipt without 14-d gap). We used multivariable logistic regression to assess the association between cost-sharing and MOUD initiation, engagement, and retention. We calculated total out-of-pocket costs in the 30 days following MOUD initiation for each type of MOUD. RESULTS: Of 10,513 individuals with incident opioid use disorder, 1202 (11%) initiated MOUD, 742 (7%) engaged, and 253 (2%) were retained in MOUD at 6 months. A high ($1000+) medical deductible was associated with a lower odds of initiation compared with no deductible (odds ratio: 0.85, 95% confidence interval: 0.74-0.98). We found no significant associations between other cost-sharing measures for initiation, engagement, or retention. Median initial 30-day out-of-pocket costs ranged from $100 for methadone to $710 for extended-release naltrexone. CONCLUSIONS: Among insurance plan cost-sharing measures, only medical services deductible showed an association with decreased MOUD initiation. Policy and benefit design should consider ways to reduce cost barriers to initiation and retention in MOUD.

Impulsivity and linkage to HIV Care among People living with HIV in St. Petersburg, Russia.

This study evaluated the association between impulsivity and linkage to HIV care among Russians living with HIV recruited from an inpatient narcology hospital. Linking Infectious and Narcology Care (LINC) study participants who completed the Barratt Impulsiveness Scale (BIS) were included in these analyses. The primary independent variable was impulsivity score which was categorized as high impulsivity (BIS score > 71) vs. low impulsivity (BIS score < = 71). The primary outcome, linkage to care post recruitment, was defined as one or more HIV medical care visits at 12-month follow-up. Multiple logistic regression models were used to evaluate the association between high impulsivity and linkage to HIV care controlling for potential confounders. Participants (N = 227) were adults with a mean age of 34 years (SD = 5), and the majority were male (74%). We did not detect a significant association between impulsivity and linkage to HIV care after adjusting for respondents' age, gender, CD4 cell count, and depression score. We also found that substance use and hazardous drinking did not appear to confound the relationship. Although our study was unable to detect an association between impulsivity and linkage to HIV care, it may provide direction for future research exploring the associations between impulsivity and HIV care.

Reliability and Validity of a Brief Self-Report Adherence Measure among People with HIV Experiencing Homelessness and Mental Health or Substance Use Disorders.

The study examines the reliability and validity of a 3-item self-report adherence measure among people with HIV (PWH) experiencing homelessness, substance use, and mental health disorders. 336 participants were included from nine sites across the US between September 2013 and February 2017. We assessed the validity of a self-report scale for adherence to antiretroviral therapy by comparing it with viral load (VL) abstracted from medical records at baseline, 6, 12, and 18 months. The items had high internal consistency (Cronbach's alpha coefficients at each time point were > 0.8). The adherence scale scores were higher in the group that achieved VL suppression compared to the group that did not. The c-statistic for the receiver-operating characteristic curves pooled across time points was 0.77 for each adherence sub-item and 0.78 for the overall score. The self-report adherence measure shows good internal consistency and validity that correlated with VL suppression in homeless populations.

Hazardous Alcohol Use, Impulsivity, and HIV-Risk Behavior Among HIV-Positive Russian Patients With a History of Injection Drug Use.

BACKGROUND AND OBJECTIVES: Previous findings on the association between hazardous drinking and HIV-risk behavior have been equivocal, varying by population and individual difference factors. This study examined associations between hazardous drinking, impulsivity, and HIV-risk behaviors among HIV-positive Russian patients with a history of injection drug use (IDU), not on antiretroviral therapy. METHODS: Negative binomial regression analyses of data from a randomized controlled trial were performed (N = 241). Main independent variables were the Alcohol Use Disorders Identification Test and the Barratt Impulsiveness Scale. Outcomes were number of condomless sexual episodes (CSE; primary), number of sexual partners, and needle-sharing frequency (secondary). RESULTS: Hazardous drinking was positively associated with the frequency of CSE (adjusted incidence rate ratio [aIRR] = 2.16, 95% confidence interval [CI], 1.98-2.36). Moderate (aIRR = 0.51, 95% CI, 0.46-0.56) and high (aIRR = 0.66, 95% CI, 0.60-0.73) impulsivity were associated with fewer CSE compared with low impulsivity. Hazardous drinking (aIRR = 0.64, 95% CI, 0.52-0.79) and impulsivity (aIRR = 0.95, 95% CI, 0.94-0.96) were both associated with fewer sexual partners. Hazardous drinking and impulsivity were each associated with increased needle sharing. The association between hazardous drinking and number of needle-shares was strongest at higher impulsivity levels. CONCLUSION AND SCIENTIFIC SIGNIFICANCE: Hazardous drinking may be a risk factor for CSE among HIV-positive Russian patients and may influence needle sharing. Findings contribute to our understanding of the interactive associations between hazardous drinking and impulsivity with sexual risk behaviors and needle sharing among HIV-positive Russian patients with a history of IDU. (Am J Addict 2020;00:00-00).

Evaluation of the One Love Escalation Workshop for Dating Abuse Prevention: a Randomized Controlled Trial Pilot Study with a Sample of US Navy Sailors.

The purpose of this study was to evaluate the efficacy of the Escalation Workshop with a sample of US Navy sailors. Escalation is a one-session workshop designed to promote bystander behavior related to dating abuse. We conducted a two-arm RCT with follow-up at 4 and 8 months. Participants were 335 Navy sailors, recruited from two comparable ships based in the USA. The unit of randomization was the ship. The primary outcomes were as follows: (a) attitudes related to intervening as a bystander in dating abuse situations, (b) injunctive norms about dating abuse, (c) dating abuse-related prevention-oriented behaviors (e.g., such as posting dating violence prevention messages online), and (d) bystander behaviors including acting as a bystander to prevent peer self-harm, peer bullying, peer intoxication, or peer dating abuse, or being a proactive bystander and initiating conversations about dating abuse prevention with friends and others. Hierarchal linear models (HLMs) indicated that, compared to participants in the control group, participants in the intervention group demonstrated improvement in attitudes [ß = .09, p < .001] and had more engagement than controls in prevention-oriented behavior at 8-month follow-up [ß = 0.11, p < .01]. Those in the intervention group also reported larger increases than controls in bystander behavior related to peer self-harm, peer bullying, peer intoxication, and starting conversations about dating abuse. Results for dating abuse bystander behavior were mixed. At 4 months, workshop participation was marginally associated with increased bystander behavior with peers who had perpetrated dating abuse (ß = 0.89, p = 0.06) and with peers experiencing physical or sexual dating abuse, or stalking or threats (ß = 1.11, p = .07). However, workshop participation was not associated with increased bystander behavior with peers experiencing only physical abuse. The Escalation Workshop may be a promising strategy to promote change in dating abuse-related attitudinal change and prevention-oriented behavior, and bystander behavior with peers related to self-harm, bullying, intoxication, and some aspects of dating abuse prevention.

Beyond Gender Identity Disorder Diagnoses Codes: An Examination of Additional Methods to Identify Transgender Individuals in Administrative Databases.

BACKGROUND: Large administrative databases often do not capture gender identity data, limiting researchers' ability to identify transgender people and complicating the study of this population. OBJECTIVE: The objective of this study was to develop methods for identifying transgender people in a large, national dataset for insured adults. RESEARCH DESIGN: This was a retrospective analysis of administrative claims data. After using gender identity disorder (GID) diagnoses codes, the current method for identifying transgender people in administrative data, we used the following 2 strategies to improve the accuracy of identifying transgender people that involved: (1) Endocrine Disorder Not Otherwise Specified (Endo NOS) codes and a transgender-related procedure code; or (2) Receipt of sex hormones not associated with the sex recorded in the patient's chart (sex-discordant hormone therapy) and an Endo NOS code or transgender-related procedure code. SUBJECTS: Seventy-four million adults 18 years and above enrolled at some point in commercial or Medicare Advantage plans from 2006 through 2017. RESULTS: We identified 27,227 unique transgender people overall; 18,785 (69%) were identified using GID codes alone. Using Endo NOS with a transgender-related procedure code, and sex-discordant hormone therapy with either Endo NOS or transgender-related procedure code, we added 4391 (16%) and 4051 (15%) transgender people, respectively. Of the 27,227 transgender people in our cohort, 8694 (32%) were transmasculine, 3959 (15%) were transfeminine, and 14,574 (54%) could not be classified. CONCLUSION: In the absence of gender identity data, additional data elements beyond GID codes improves the identification of transgender people in large, administrative claims databases.

Alterations in high-order diffusion imaging in veterans with Gulf War Illness is associated with chemical weapons exposure and mild traumatic brain injury.

The complex etiology behind Gulf War Illness (GWI) has been attributed to the combined exposure to neurotoxicant chemicals, brain injuries, and some combat experiences. Chronic GWI symptoms have been shown to be associated with intensified neuroinflammatory responses in animal and human studies. To investigate the neuroinflammatory responses and potential causes in Gulf War (GW) veterans, we focused on the effects of chemical/biological weapons (CBW) exposure and mild traumatic brain injury (mTBI) during the war. We applied a novel MRI diffusion processing method, Neurite density imaging (NDI), on high-order diffusion imaging to estimate microstructural alterations of brain imaging in Gulf War veterans with and without GWI, and collected plasma proinflammatory cytokine samples as well as self-reported health symptom scores. Our study identified microstructural changes specific to GWI in the frontal and limbic regions due to CBW and mTBI, and further showed distinctive microstructural patterns such that widespread changes were associated with CBW and more focal changes on diffusion imaging were observed in GW veterans with an mTBI during the war. In addition, microstructural alterations on brain imaging correlated with upregulated blood proinflammatory cytokine markers TNFRI and TNFRII and with worse outcomes on self-reported symptom measures for fatigue and sleep functioning. Taken together, these results suggest TNF signaling mediated inflammation affects frontal and limbic regions of the brain, which may contribute to the fatigue and sleep symptoms of the disease and suggest a strong neuroinflammatory component to GWI. These results also suggest exposures to chemical weapons and mTBI during the war are associated with different patterns of peripheral and central inflammation and highlight the brain regions vulnerable to further subtle microscale morphological changes and chronic signaling to nearby glia.

Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.

Coffin-Siris syndrome (CSS) is a rare congenital disorder with variable clinical phenotype consisting of developmental delay and characteristic facial features. It is caused by mutations in the chromatin remodeling switch/sucrose nonfermenting complex. Although SWI/SNF genes are widely implicated in tumorigenesis, only 8 cases of neoplasm have been reported in patients with CSS. We report a case of anaplastic astrocytoma (WHO grade III) in an 18-month-old child with CSS due to a de novo germline missense SMARCE1 mutation. Additional molecular features of the tumor are described as well. The role of missense SMARCE1 mutations in tumor predisposition in children with CSS should be further investigated to better inform genetic counselling.

Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model.

BACKGROUND: Patients with cancer are increasingly offered genomic sequencing, including germline testing for cancer predisposition or other disorders. Such testing is unfamiliar to patients and families, and clear communication is needed to introduce genomic concepts and convey risk and benefit information. METHODS: Parents of children with cancer were offered the opportunity to have their children's tumor and germline examined with clinical genomic sequencing. Families were introduced to the study with a 2-visit informed consent model. Baseline genetic knowledge and self-reported literacy/numeracy were collected before a study introduction visit, during which basic concepts related to genomic sequencing were discussed. Information was reinforced during a second visit, during which informed consent was obtained and a posttest was administered. RESULTS: As reflected by the percentage of correct answers on the pretest and posttest assessments, this model increased genetic knowledge by 11.1% (from 77.8% to 88.9%; P < .0001) in 121 parents participating in both the study introduction and consent visits. The percentage of parents correctly identifying the meaning of somatic and germline mutations increased significantly (from 18% to 59% [somatic] and from 31% to 64% [germline]; P < .0001). Nevertheless, these concepts remained unfamiliar to one-third of the parents. No relation was identified between the change in the overall percentage of correct answers and self-reported literacy, numeracy, or demographics. CONCLUSIONS: The use of a 2-visit communication model improved knowledge of concepts relevant to genomic sequencing, particularly differences between somatic and germline testing; however, these areas remained confusing to many participants, and reinforcement may be necessary to achieve complete understanding.

Integrating genetic counseling and testing in the pediatric oncology setting: Parental attitudes and influencing factors.

BACKGROUND: Cancer predisposition syndromes (CPS) are caused by germline pathogenic variants that put an individual at increased risk of developing cancer throughout their lifetime. It is estimated that approximately 10-15% of children with cancer have an underlying CPS. Although research has investigated the clinical utility of genetic testing for children diagnosed with cancer, this study aimed to gain a deeper understanding of parental attitudes toward genetic testing in this population. PROCEDURE: Attitudes toward genetic counseling and testing among parents of children diagnosed with cancer were solicited through questionnaires distributed to a pediatric cancer clinic and online support groups. Quantitative data were analyzed using descriptive statistics and chi-square tests for association. RESULTS: The majority of participants had prior knowledge of genetic counseling (64.3%), yet most were not offered genetic counseling (59.5%). Fifty percent of parents reported interest in pursuing genetic counseling/testing and 31.0% reported uncertainty. Statistically significant associations were identified between interest in genetic counseling/testing and the child's age at diagnosis, child's sex, and participant annual income (P < .05). CONCLUSIONS: Parents of children diagnosed with cancer generally expressed interest in genetic counseling/testing; however, notable uncertainty was also reported. In light of this uncertainty, genetic counselors have an ideal skill set to engage families in their decision-making process as they weigh the benefits and drawbacks to pursuing genetic testing among this population. Demonstrated parental receptiveness to genomic technologies supports expansion of genetics providers in pediatric oncology care.

Accuracy of the Actigraph wGT3x-BT for step counting during inpatient spinal cord rehabilitation.

STUDY DESIGN: Cross-sectional. OBJECTIVES: (1) Assess the accuracy of the Actigraph wGT3x-BT accelerometer to count steps taken by inpatients with incomplete spinal cord injury (iSCI) in physical therapy (PT) sessions and self-directed activities, and (2) compare the number of steps/min taken in PT sessions to that in self-directed activities during inpatient rehabilitation. SETTING: Inpatient spinal cord injury rehabilitation. METHODS: Seventeen individuals with subacute motor iSCI were observed for up to 45-min of both PT and self-directed activities, during which steps were simultaneously tracked by the Actigraph wGT3x-BT and a researcher using a hand tally counter. Accuracy was evaluated with an intraclass correlation coefficient (ICC) for the entire PT session and self-directed activities, as well as for periods of walking. RESULTS: There was excellent agreement between the Actigraph wGT3x-BT and manually counted steps for entire PT sessions (ICC = 0.86) and walking periods (PT walking, ICC = 0.99; self-directed walking, ICC = 0.99). There was poor agreement for entire self-directed sessions (ICC = 0.15). Visual analysis of Bland-Altman plots supported these findings. Participants took more steps/min in PT sessions compared to self-directed activities (p = 0.023). CONCLUSION: The Actigraph wGT3x-BT accurately counts steps during PT sessions and walking periods in individuals with subacute motor iSCI. Clinically, this may enable physical therapists to track walking repetitions during inpatient rehabilitation more effortlessly.

An online community of practice to improve intervention for individuals with complex communication needs.

Collaboration and information sharing are essential in the fast moving world of augmentative and alternative communication (AAC). This paper describes communities of practice, justifies their need in AAC, and introduces the Communication Matrix Community of Practice (CMCoP)-an online community of practice for professionals and family members supporting individuals at the earliest stages of communication development. Stakeholders share the goal of advancing language and communication intervention for individuals with complex communication needs. Features of the CMCoP include a community forum for discussing and sharing information; collections of posts by professionals and nonprofessionals on various topics; an events calendar of AAC-related activities relevant to stakeholders; and a shared science section offering portraits of the communication skills of various populations with severe communication disorders. The utility of these and other CMCoP features in supporting the implementation of AAC assessment and intervention strategies is discussed.

Germline Mutations in Predisposition Genes in Pediatric Cancer.

BACKGROUND: The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown. Knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families. METHODS: In 1120 patients younger than 20 years of age, we sequenced the whole genomes (in 595 patients), whole exomes (in 456), or both (in 69). We analyzed the DNA sequences of 565 genes, including 60 that have been associated with autosomal dominant cancer-predisposition syndromes, for the presence of germline mutations. The pathogenicity of the mutations was determined by a panel of medical experts with the use of cancer-specific and locus-specific genetic databases, the medical literature, computational predictions, and second hits identified in the tumor genome. The same approach was used to analyze data from 966 persons who did not have known cancer in the 1000 Genomes Project, and a similar approach was used to analyze data from an autism study (from 515 persons with autism and 208 persons without autism). RESULTS: Mutations that were deemed to be pathogenic or probably pathogenic were identified in 95 patients with cancer (8.5%), as compared with 1.1% of the persons in the 1000 Genomes Project and 0.6% of the participants in the autism study. The most commonly mutated genes in the affected patients were TP53 (in 50 patients), APC (in 6), BRCA2 (in 6), NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3). A total of 18 additional patients had protein-truncating mutations in tumor-suppressor genes. Of the 58 patients with a predisposing mutation and available information on family history, 23 (40%) had a family history of cancer. CONCLUSIONS: Germline mutations in cancer-predisposing genes were identified in 8.5% of the children and adolescents with cancer. Family history did not predict the presence of an underlying predisposition syndrome in most patients. (Funded by the American Lebanese Syrian Associated Charities and the National Cancer Institute.).

Longitudinal Stigma Reduction in People Living with HIV Experiencing Homelessness or Unstable Housing Diagnosed With Mental Health or Substance Use Disorders: An Intervention Study.

Objectives. To assess changes in perceived external stigma among people living with HIV (PLWH) experiencing homelessness or unstable housing diagnosed with mental health or substance use disorders following an intervention including care coordination and navigation assistance, building trusting relationships, addressing unmet needs, and reducing barriers to seeking and engaging in care.Methods. This study was part of a national multisite intervention project delivered at 6 geographically diverse sites throughout the United States from September 2013 through February 2017. Participant surveys were conducted at baseline, 6 months, and 12 months. We assessed perceived external stigma, defined as people's beliefs about others' attitudes toward them, related to HIV, homelessness, mental health disorders, and substance use disorders with modified stigma scales.Results. A total of 548 individuals participated. At baseline, more participants reported experiencing any perceived external HIV stigma (81%) than any stigma related to homelessness and mental health or substance use disorders (38.9%). Over time, those reporting any HIV stigma decreased significantly from baseline (81%) to 61.4% and 57.8% at 6 and 12 months, respectively.Conclusions. PLWH experiencing homelessness or unstable housing with mental health or substance use disorders are impacted by multilayered stigma. Interventions to engage them in care may help reduce stigma.

Onset of T2DM after gestational diabetes: What the prevention paradox tells us about risk.

This study investigates the effect of severity of gestational diabetes (GDM) on likelihood of post-delivery glucose testing and early onset Type 2 diabetes (T2DM). We asked if clinical focus on relative risk (RR), i.e. greater probability of T2DM onset in a higher-severity group, contributes to missed opportunities for prevention among women with lower-severity GDM. A sample of 12,622 continuously-insured women with GDM (2006-2015) was drawn from a large national dataset (OptumLabs® Data Warehouse) and followed for 3-years post-delivery. Higher-severity GDM was defined as addition of hypoglycemic therapy to standard of care for GDM. We found that women with higher-severity (n = 2627) were twice as likely as lower-severity women (n = 9995) to obtain glucose testing post-delivery. Moreover, 357 (13.6%) of the higher-severity women developed T2DM by year-3 vs. 600 (6.0%) lower-severity women. In an analysis of the population attributable fraction (PAF), defined as the contribution of excess risk to population prevalence, lower-severity women contributed more cases to diabetes rates than higher-risk women (PAF 79% vs. 21%), despite an increased RR in the higher-severity group (13.6% vs. 6.0%, RR 2.26, 95%CI 2.00, 2.56). Projecting out to the 327,950 U.S. deliveries in 2014, we estimate that 9277 higher-severity women (13.6%) and 15,584 lower-severity women (6.0%), will have developed T2DM by 2018. These data demonstrate that lower-severity GDM contributes substantially to the diabetes epidemic. Greater awareness of clinical and cost implications of gaps in follow-up for lower-severity GDM may strengthen the likelihood of post-delivery testing and primary care referral, and thus reinforce the path to prevention.