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Objective: The authors aimed to identify barriers to and strategies for supporting coordination between state agencies for intellectual and developmental disability (IDD) or mental health to meet the mental health needs of people with co-occurring IDD and mental health conditions., Methods: Forty-nine employees of state agencies as well as advocacy and service delivery organizations across 11 U.S. states with separate IDD and mental health agencies were interviewed between April 2022 and April 2023. Data were analyzed with a thematic analysis approach., Results: Interviewees reported that relationships between the IDD and mental health agencies have elements of both competition and coordination and that coordination primarily takes place in response to crisis events. Barriers to interagency coordination included a narrow focus on the populations targeted by each agency, within-state variation in agency structures, and a lack of knowledge about co-occurring IDD and mental health conditions. Interviewees also described both administrative (e.g., memorandums of understanding) and agency culture (e.g., focusing on whole-person care) strategies that are or could be used to improve coordination to provide mental health services for people with both IDD and a mental health condition., Conclusions: Strategies that support state agencies in moving away from crisis response toward a focus on whole-person care should be prioritized to support coordination of mental health services for individuals with co-occurring IDD and mental health conditions., Competing Interests: The authors report no financial relationships with commercial interests.

Mutations in the thrombospondin 1 ( THBS1 ) gene have been previously reported in primary congenital glaucoma (PCG) pedigrees that exhibit autosomal dominant inheritance with low penetrance. We sought to determine the role of THBS1 mutations in a cohort of 20 patients with PCG and 362 normal controls from Iowa using a combination of Sanger sequencing and whole exome sequencing. We detected 16 different THBS1 variants, including 4 rare, nonsynonymous variants (p.Thr611Met, p.Asn708Lys, p.Gln1089His, and p.Glu1166Lys). However, none of these variants were judged to be disease-causing mutations based on: 1) prevalence in cases and controls from Iowa, 2) prevalence in the public database gnomAD, 3) mutation analysis algorithms, and 4) THBS1 DNA sequence conservation. These results indicate THBS1 mutations are not a common cause of PCG in patients from Iowa and may be a rare cause of PCG overall., Competing Interests: Disclosure: The authors declare no conflict of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Many states have adopted laws that limit the amount or duration of opioid prescriptions. These limits often focus on prescriptions for acute pain, but there may be unintended consequences for those diagnosed with chronic pain, including reduced opioid prescribing without substitution of appropriate non-opioid treatments., Objective: To evaluate the effects of state opioid prescribing cap laws on opioid and non-opioid treatment among those diagnosed with chronic pain., Design: We used a difference-in-differences approach that accounts for staggered policy adoption. Treated states included 32 states that implemented a prescribing cap law between 2017 and 2019., Population: A total of 480,856 adults in the USA who were continuously enrolled in medical and pharmacy coverage from 2013 to 2019 and diagnosed with a chronic pain condition between 2013 and 2016., Main Measures: Among individuals with chronic pain in each state: proportion with at least one opioid prescription and with prescriptions of a specific duration or dose, average number of opioid prescriptions, average opioid prescription duration and dose, proportion with at least one non-opioid chronic pain prescription, average number of such prescriptions, proportion with at least one chronic pain procedure, and average number of such procedures., Key Results: State laws limiting opioid prescriptions were not associated with changes in opioid prescribing, non-opioid medication prescribing, or non-opioid chronic pain procedures among patients with chronic pain diagnoses., Conclusions: These findings do not support an association between state opioid prescribing cap laws and changes in the treatment of chronic non-cancer pain., (© 2022. The Author(s), under exclusive licence to Society of General Internal Medicine.)

Inequitable experiences of community gun violence and victimization by police use of force led to nationwide calls to "reimagine public safety" in 2020. In January 2021, we examined public support among U.S. adults for 7 policy approaches to reforming policing and investing in community gun violence prevention. Using a nationally representative sample (N = 2778), with oversampling for Black Americans, Hispanic Americans, and gun owners, we assessed support overall and by racial, ethnic, and gun owner subgroups. Overall, we found majority support for funding and implementing police and mental health co-responder models (66% and 76%, respectively), diversion from incarceration for people with symptoms of mental illness (72%), stronger laws to assure police accountability (72%), and funding for community-based and hospital-based gun violence prevention programs (69% and 60%, respectively). Support for redirecting funding from the police to social services was more variable (44% overall; White: 35%, Black: 60%, Hispanic: 43%). For all survey items, support was strongest among Black Americans. Gun owners overall reported lower support for public safety reforms and investments than respondents who did not own guns, but this distinction was found to be driven by White gun owners. The views of Black gun owners were indistinguishable from Black non-owners and were similar to White non-owners on most issues. These findings suggest that broad public support exists for innovative violence reduction strategies and public safety reforms., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Introduction: In response to the role of opioid prescribing in the U.S. opioid crisis, states have enacted laws intended to curb high risk opioid prescribing practices. This study assessed the effects of state prescribing cap laws that limit the dose and/or duration of dispensed opioid prescriptions on opioid prescribing patterns and opioid overdose., Methods: We identified 1,414,908 adults from a large U.S. administrative insurance claims database. Treatment states included 32 states that implemented a prescribing cap law between 2017 and 2019. Comparison states included 16 states and DC without a prescribing cap law by 2019. A difference-in-differences approach with staggered policy adoption was used to assess effects of these laws on opioid analgesic prescribing and opioid overdose., Results: State opioid prescribing cap laws were not associated with changes in the proportion of people receiving opioid analgesic prescriptions, the dose or duration of opioid prescriptions, or opioid overdose. States with laws that imposed days' supply limits only versus days' supply and dosage limits, as well as with specific law provisions also showed no association with opioid prescribing or opioid overdose outcomes., Conclusions: State opioid prescribing cap laws did not appear to impact outcomes related to opioid analgesic prescribing or opioid overdose. These findings are potentially due to the limited scope of these laws, which often apply only to a subset of opioid prescriptions and include professional judgment exemptions., Competing Interests: Conflict of Interest Drs. Tormohlen, McCourt, Schmid, Stone, Stuart, Davis, and McGinty have no financial disclosures. Dr. Bicket reports past service as a consultant for Axial Healthcare and Alosa Health, both unrelated to the submitted work., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Objectives. To characterize the experience and impact of pandemic-related workplace violence in the form of harassment and threats against public health officials. Methods. We used a mixed methods approach, combining media content and a national survey of local health departments (LHDs) in the United States, to identify harassment against public health officials from March 2020 to January 2021. We compared media-portrayed experiences, survey-reported experiences, and publicly reported position departures. Results. At least 1499 harassment experiences were identified by LHD survey respondents, representing 57% of responding departments. We also identified 222 position departures by public health officials nationally, 36% alongside reports of harassment. Public health officials described experiencing structural and political undermining of their professional duties, marginalization of their expertise, social villainization, and disillusionment. Many affected leaders remain in their positions. Conclusions. Interventions to reduce undermining, ostracizing, and intimidating acts against health officials are needed for a sustainable public health system. We recommend training leaders to respond to political conflict, improving colleague support networks, providing trauma-informed worker support, investing in long-term public health staffing and infrastructure, and establishing workplace violence reporting systems and legal protections. ( Am J Public Health . 2022;112(5):736-746. https://doi.org/10.2105/AJPH.2021.306649).

Background: Cancer is the second leading cause of death for people with serious mental illness (SMI), such as schizophrenia and bipolar disorder. People with SMI receive cancer screenings at lower rates than the general population., Aims: We sought to identify factors associated with cancer screening in a publicly insured population with SMI and stratified by race, a factor itself linked with differential rates of cancer screening., Materials and Methods: We used Maryland Medicaid administrative claims data (2010-2018) to examine screening rates for cervical cancer (N = 40,622), breast cancer (N = 9818), colorectal cancer (N = 19,306), and prostate cancer (N = 4887) among eligible Black and white enrollees with SMI. We examined individual-level socio-demographic and clinical factors, including co-occurring substance use disorder, medical comorbidities, psychiatric diagnosis, obstetric-gynecologic and primary care utilization, as well as county-level characteristics, including metropolitan status, mean household income, and primary care workforce capacity. Generalized estimating equations with a logit link were used to examine the characteristics associated with cancer screening., Results: Compared with white enrollees, Black enrollees were more likely to receive screening for cervical cancer (AOR: 1.18; 95% CI: 1.15-1.22), breast cancer (AOR: 1.27; 95% CI: 1.19-1.36), and colorectal cancer (AOR: 1.07; 95% CI: 1.02-1.13), while similar rates were observed for prostate cancer screening (AOR: 1.06; 95% CI: 0.96-1.18). Primary care utilization and longer Medicaid enrollment were positively associated with cancer screening while co-occurring substance use disorder was negatively associated with cancer screening., Conclusion: Improving cancer screening rates among populations with SMI should focus on facilitating continuous insurance coverage and access to primary care., (© 2021 John Wiley & Sons Ltd.)

Objective: To evaluate the impact of Maryland's behavioral health homes (BHHs) on receipt of follow-up care and readmissions following hospitalization among Medicaid enrollees with serious mental illness (SMI)., Data Sources: Maryland Medicaid administrative claims for 12 232 individuals., Study Design: Weighted marginal structural models were estimated to account for time-varying exposure to BHH enrollment and time-varying confounders. These models compared changes over time in outcomes among BHH and comparison participants. Outcome measures included readmissions and follow-up care within 7 and 30 days following hospitalization., Data Collection/extraction Methods: Eligibility criteria included continuous enrollment in Medicaid for the first two years of the study period; 21-64 years; and use of psychiatric rehabilitation services., Principal Findings: Over three years, BHH enrollment was associated with 3.8 percentage point (95% CI: 1.5, 6.1) increased probability of having a mental health follow-up service within 7 days of discharge from a mental illness-related hospitalization and 1.9 percentage point (95% CI: 0.0, 3.9) increased probability of having a general medical follow-up within 7 days of discharge from a somatic hospitalization. BHHs had no effect on probability of readmission., Conclusions: BHHs may improve follow-up care for Medicaid enrollees with SMI, but effects do not translate into reduced risk of readmission., (© Health Research and Educational Trust.)

Objectives: To characterize primary care physicians' (PCPs) attitudes and beliefs about people with opioid use disorder (OUD) and to understand the association between PCPs' stigmatizing attitudes and their OUD treatment practices, beliefs about treatment effectiveness, and support for policies designed to improve access to OUD medications., Methods: We conducted a national postal survey of U.S. PCPs from January to August 2019. Survey items measured respondents' attitudes, beliefs, and current treatment practices. Data were analyzed using descriptive statistics and logistic regression., Results: Of the original 1000 PCPs in the survey sample, 668 were deemed eligible to participate in the study. The survey was completed by 361 PCPs for an adjusted response rate of 54 %. PCPs reported high levels of stigmatizing attitudes. Less than 30 % of PCPs reported that they were willing to have a person taking medication for OUD as a neighbor or marry into their family, even if that person was being treated with medication. Greater stigma was associated with an 11 percentage point lower likelihood that PCPs prescribed OUD medication and lower support for policies intended to increase access to OUD medication., Conclusions: Addressing OUD stigma among PCPs is a public health priority in addressing the ongoing opioid crisis., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Background: Nineteen US states and D.C. have used the Affordable Care Act Medicaid health home waiver to create behavioral health home (BHH) programs for Medicaid beneficiaries with serious mental illness (SMI). BHH programs integrate physical healthcare management and coordination into specialty mental health programs. No studies have evaluated the effects of a BHH program created through the Affordable Care Act waiver on cardiovascular care quality among people with SMI., Objective: To study the effects of Maryland's Medicaid health home waiver BHH program, implemented October 1, 2013, on quality of cardiovascular care among individuals with SMI., Design: Retrospective cohort analysis using Maryland Medicaid administrative claims data from July 1, 2010, to September 30, 2016. We used marginal structural modeling with inverse probability of treatment weighting to account for censoring and potential time-dependent confounding., Participants: Maryland Medicaid beneficiaries with diabetes or cardiovascular disease (CVD) participating in psychiatric rehabilitation programs, the setting in which BHHs were implemented. To qualify for psychiatric rehabilitation programs, individuals must have SMI. The analytic sample included BHH and non-BHH participants, N = 2605 with diabetes and N = 1899 with CVD., Main Measures: Healthcare Effectiveness Data and Information Set (HEDIS) measures of cardiovascular care quality including annual receipt of diabetic eye and foot exams; HbA1c, diabetic nephropathy, and cholesterol testing; and statin therapy receipt and adherence among individuals with diabetes, as well as HEDIS measures of annual receipt of cholesterol testing and statin therapy and adherence among individuals with CVD., Key Results: Relative to non-enrollment, enrollment in Maryland's BHH program was associated with increased likelihood of eye exam receipt among individuals with SMI and co-morbid diabetes, but no changes in other care quality measures., Conclusions: Additional financing, infrastructure, and implementation supports may be needed to realize the full potential of Maryland's BHH to improve cardiovascular care for people with SMI.

Objective: This study evaluated the association of the Maryland Medicaid behavioral health home (BHH) integrated care program with cancer screening., Methods: Using administrative claims data from October 2012 to September 2016, the authors measured cancer screening among 12,176 adults in Maryland's psychiatric rehabilitation program who were eligible for cervical (N=6,811), breast (N=1,658), and colorectal (N=3,430) cancer screening. Marginal structural modeling was used to examine the association between receipt of annual cancer screening and whether participants had ever enrolled in a BHH (enrolled: N=3,298, 27%; not enrolled: N=8,878, 73%)., Results: Relative to nonenrollment, BHH enrollment was associated with increased screening for cervical and breast cancer but not for colorectal cancer. Predicted annual rates remained low, even in BHHs., Conclusions: Despite estimates of improvements in cervical and breast cancer screening after BHH implementation, cancer screening rates remained suboptimal. Broader cancer screening interventions are needed to improve cancer screening for people with mental illness.

Direct-to-physician opioid marketing by pharmaceutical companies is widespread and may contribute to opioid overprescribing, an important driver of the US opioid crisis. Using a difference-in-differences approach and Medicare Part D prescriber data, we examined the effects of academic medical centers' conflict-of-interest policies that restrict direct-to-physician marketing of all drugs on opioid prescribing by physicians at eighty-five centers in the period 2013-16. We examined restrictions on gifts and meals, speaking and consulting engagements, and industry representatives' access to academic medical centers, as well as rules requiring conflict-of-interest disclosures. Bans on sales representatives were associated with a 4.7 percent reduction in the total volume of opioids prescribed and disclosure requirements with a 2.5 percent reduction, while having all four marketing restriction policies was associated with an 8.8 percent reduction. Policies that restrict direct-to-physician pharmaceutical marketing may curb opioid prescribing, but additional patient-level research is needed to understand how such policies affect the delivery of evidence-based treatment for chronic pain.

After the school shooting at Marjory Stoneman Douglas High School in Parkland, Florida in 2018, there was an increase in gun violence prevention-related advocacy. While much of this recent political activity and engagement was led by young adults, little is known about support for specific gun policies within this age group. This study uses data from two nationally representative surveys fielded in 2017 and 2019 to compare public support for gun policies: (1) between young adults age 18-29 years and adults age 30 and older, and (2) between young adults in 2017 and young adults in 2019, before and after the Parkland shooting. Relative to adults age 30 and older, young adults had lower support for 16 of 20 gun violence prevention policies examined. Public support was largely unchanged between 2017 and 2019 among survey respondents ages 18-29; however, support for requiring a safety test for concealed carry decreased significantly among young adults between 2017 and 2019. Despite owning fewer guns and finding gun violence prevention important generally, young adults appear to have lower support for policies that regulate guns compared to older adults., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: To assess whether there are differences in support for handgun purchaser licensing., Methods: We used data from four waves of online, national polling on gun policy. To estimate differences in support for licensing across groups, we categorised respondents by whether they personally owned a gun, lived in a state with handgun purchaser licensing or lived in a state regulating private sales without a licensing system., Results: Eighty-four per cent of adults living in states with licensing supported the policy compared with 74% in states without the law (p<0.001). Seventy-seven per cent of gun owners living in states with licensing supported the policy vs 59% of gun owners in states without licensing (p<0.001)., Conclusions: Support for licensing among gun owners living in states with these laws, many of whom have presumably gone through the process, was much higher than gun owners in states without such laws., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Behavioral health homes, shown to improve receipt of evidence-based medical services among people with serious mental illness in randomized clinical trials, have had limited results in real-world settings; nonetheless, these programs are spreading rapidly. To date, no studies have considered what set of policies is needed to support effective implementation of these programs. As a first step toward identifying an optimal set of policies to support behavioral health home implementation, we use the policy ecology framework to map the policies surrounding Maryland's Medicaid behavioral health home program. Results suggest that existing policies fail to address important implementation barriers.

Gun policy is a prominent topic of debate in the 2020 US election cycle. Tracking evolving public attitudes about gun policy is critical in this context. Using data from the National Survey of Gun Policy fielded in 2013, 2015, 2017, and 2019 by the Johns Hopkins Center for Gun Policy and Research, we examined trends in support for more than two dozen gun policies over time by gun ownership status and political party affiliation, and across states. Most policies that we considered had majority support across the study period. We identified increases in public support over time for licensing and universal background checks of handgun purchasers, stronger regulation of gun dealers, and extreme risk protection orders. Gun owners and non-gun owners were highly supportive of requiring tests to demonstrate safe handling before carrying a concealed weapon, but there were large differences in support for other concealed carry policies by gun ownership status. A new item included in the 2019 survey showed that 84 percent of Americans supported requiring first-time gun purchasers to take a safety course. While gun policy continues to be characterized as highly polemical, large majorities of both gun owners and non-gun owners strongly support a range of measures to strengthen US gun laws.

News media coverage of the U.S. opioid epidemic influences Americans' knowledge of and preferences for solutions to address the crisis. From 1998 to 2012, news media coverage of the opioid epidemic focused on criminal justice-oriented solutions. We examine whether and how news coverage of solutions has shifted in the recent years of the crisis. We analyzed a random sample of 600 U.S. news stories published/aired by high circulation/viewership national and local print and television news outlets from 2013 to 2017. We examined the proportion of news stories mentioning treatment, harm reduction, prevention, criminal justice, opioid prescribing, pharmaceutical manufacturer, insurer, and other solutions. News stories were coded using a structured coding instrument, and 200 news stories were double-coded to ensure interrater reliability. Data were collected and analyzed in 2018. Treatment (mentioned in 33% of news stories), harm reduction (30%), and prevention (24%) solutions were the most frequently mentioned types of solutions. Several evidence-based public health solutions received little news coverage: medication treatment for opioid use disorder was mentioned in 9% of news stories and the harm reduction solutions syringe services programs and safe consumption sites were mentioned in 5% and 2% of news stories. While news coverage showed a promising emphasis on public health-oriented solutions, efforts to increase news coverage of examples of effective opioid use disorder treatment and harm reduction solutions are needed., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Public stigma toward people who use illicit drugs impedes advancement of public health solutions to the opioid epidemic and reduces willingness to seek addiction treatment. Experimental studies show that use of certain terms, such as "addict" and "substance abuser," exacerbate stigma while alternative terms, such as "person with a substance use disorder," are less stigmatizing. We examine the frequency with which stigmatizing terms and less-stigmatizing alternatives are used in U.S. news media coverage of the opioid epidemic. We analyzed 6399 news stories about the opioid epidemic published/aired by high-circulation and high-viewership U.S. national and regional print and television news outlets from July 2008 through June 2018. We calculated the proportion of news stories mentioning terms shown to be stigmatizing, as well as terms shown to be less-stigmatizing alternatives, in randomized experiments. Data was collected during May through August 2018 and analyzed in September 2018. Over the 10-year study period, 49% of news stories about the opioid epidemic mentioned any stigmatizing term and 2% mentioned any less-stigmatizing alternative. The proportion of news stories mentioning stigmatizing terms over the 10-year study period increased from 37% in July 2008-June 2009 to 45% in July 2017-June 2018. The language included in U.S. news media coverage of the opioid epidemic may contribute to and reinforce widespread public stigma toward people with opioid use disorders. This stigma may be a barrier to implementation of evidence-based interventions to prevent opioid overdose deaths. Establishing journalistic standards to de-stigmatize the language of addiction is a public health priority., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Objective: This study measured Americans' willingness to pay an additional $50 in taxes to improve health care and social services for individuals with serious mental illness., Methods: A nationally representative online survey was conducted with 1,010 respondents. Analysis examined how respondents' demographic characteristics and attitudes toward individuals with serious mental illness correlated with their willingness to pay additional taxes to improve health care and social services for this vulnerable population., Results: A majority of respondents expressed willingness to pay $50 in additional taxes to improve health care services (60%) and social services (58%) for individuals with serious mental illness. Those with more negative attitudes toward individuals with serious mental illness were less willing to pay additional taxes to improve either service type., Conclusions: Many Americans are willing to pay additional taxes to improve health care and social services for individuals with serious mental illness.

Purpose: Autosomal dominant nanophthalmos is an inherited eye disorder characterized by a structurally normal but smaller eye. Patients with nanophthalmos have high hyperopia (far-sightedness), a greater incidence of angle-closure glaucoma, and increased risk of surgical complications. In this study, the clinical features and the genetic basis of nanophthalmos were investigated in two large autosomal dominant nanophthalmos pedigrees., Methods: Fourteen members of a Caucasian pedigree from the United States and 15 members of a pedigree from the Mariana Islands enrolled in a genetic study of nanophthalmos and contributed DNA samples. Twenty of 29 family members underwent eye examinations that included measurement of axial eye length and/or refractive error. The genetic basis of nanophthalmos in the pedigrees was studied with linkage analysis, whole exome sequencing, and candidate gene (i.e., TMEM98) sequencing to identify the nanophthalmos-causing gene., Results: Nine members of the pedigree from the United States and 11 members of the pedigree from the Mariana Islands were diagnosed with nanophthalmos that is transmitted as an autosomal dominant trait. The patients with nanophthalmos had abnormally short axial eye lengths, which ranged from 15.9 to 18.4 mm. Linkage analysis of the nanophthalmos pedigree from the United States identified nine large regions of the genome (greater than 10 Mbp) that were coinherited with disease in this family. Genes within these "linked regions" were examined for disease-causing mutations using exome sequencing, and a His196Pro mutation was detected in the TMEM98 gene, which was recently reported to be a nanophthalmos gene. Sanger sequencing subsequently showed that all other members of this pedigree with nanophthalmos also carry the His196Pro TMEM98 mutation. Testing the Mariana Islands pedigree for TMEM98 mutations identified a 34 bp heterozygous deletion that spans the 3' end of exon 4 in all affected family members. Neither TMEM98 mutation was detected in public exome sequence databases., Conclusions: A recent report identified a single TMEM98 missense mutation in a nanophthalmos pedigree. Our discovery of two additional TMEM98 mutations confirms the important role of the gene in the pathogenesis of autosomal dominant nanophthalmos.

Teacher education programs in the United States face increasing pressure to demonstrate their effectiveness through pupils' learning gains in classrooms where program graduates teach. The link between teacher candidates' learning in teacher education programs and pupils' learning in K-12 classrooms implicit in the policy discourse suggests a one-to-one correspondence. However, the logical steps leading from what teacher candidates have learned in their programs to what they are doing in classrooms that may contribute to their pupils' learning are anything but straightforward. In this paper, we argue that the logic model approach from scholarship on evaluation can enhance research on teacher education by making explicit the logical links between program processes and intended outcomes. We demonstrate the usefulness of the logic model approach through our own work on designing a longitudinal study that focuses on examining the process and impact of an undergraduate mathematics and science teacher education program., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Genetic testing can make a very positive impact on individuals and families affected with inherited eye disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnoses and prognoses, can improve the accuracy of genetic counseling, can reduce the risk of disease occurrence or recurrence in families at risk, and can facilitate the development and delivery of mechanism-specific care. However, like all medical interventions, genetic testing has some specific risks that vary from patient to patient. For example, the results of a genetic test can affect a patient's plans to have children, can create a sense of anxiety or guilt, and can even perturb a patient's relationships with other family members. For these reasons, skilled counseling should be provided to all individuals who undergo genetic testing to maximize the benefits and minimize the risks associated with each test., (Copyright © 2012 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: Analysis of mutant mouse strains and linkage analysis with human families have both demonstrated that mutations influencing the podosomal adaptor protein SH3 and PX domains 2B (SH3PXD2B) can result in a congenital form of glaucoma. Here, we use immunohistochemistry to describe localization of the SH3PXD2B protein throughout the adult human eye and test whether sequence variants in SH3PXD2B occur in multiple other forms of glaucoma., Methods: In immunohistochemical experiments, cryosections of human donor eyes were evaluated for SH3PXD2B immunoreactivity with a polyclonal antibody. In genetic experiments, exon sequences of SH3PXD2B from patients with primary congenital glaucoma (n=21), Axenfeld-Rieger syndrome (n=30), and primary open angle glaucoma (n=127) were compared to control subjects (n=89). The frequency of non-synonymous SH3PXD2B coding sequence variants were compared between patient cohorts and controls using Fisher's exact test., Results: Varying intensities of SH3PXD2B immunoreactivity were detected in almost all ocular tissues. Among tissues important to glaucoma, immunoreactivity was detected in the drainage structures of the iridocorneal angle, ciliary body, and retinal ganglion cells. Intense immunoreactivity was present in photoreceptor inner segments. From DNA analysis, a total of 11 non-synonymous variants were detected. By Fisher's Exact test, there was not a significant skew in the overall frequency of these changes in any patient cohort versus controls (p-value >0.05). Each cohort contained unique variants not detected in other cohorts or patients., Conclusions: SH3PXD2B is widely distributed in the adult human eye, including several tissues important to glaucoma pathogenesis. Analysis of DNA variants in three forms of glaucoma detected multiple variants unique to each patient cohort. While statistical analysis failed to support a pathogenic role for these variants, some of them may be rare disease-causing variants whose biologic significance warrants investigation in follow up replication studies and functional assays.

Purpose: To determine the role of the recently discovered primary open angle glaucoma (POAG) risk factor mapped to chromosome 7q31 in glaucoma patients from Iowa and to determine the expression pattern of genes in the locus in human eyes., Methods: A cohort of 545 POAG patients and 297 control subjects from Iowa were genotyped with a single nucleotide polymorphism (SNP; rs4236601) in the chromosome 7q31 locus using a quantitative polymerase chain reaction (PCR) assay. The expression of genes within the 7q31 locus, caveolin-1 (CAV1) and caveolin-2 (CAV2) in human eyes was investigated with immunohistochemistry., Results: The minor allele frequency (MAF) of rs4236601 was 27% in control subjects and 29% in POAG patients. We detected no statistical difference when we compared the allele frequencies of rs4236601 between POAG patients and control subjects (p=0.5). Similarly, we detected no statistical difference in the frequency of the three possible rs4236601 genotypes between patients and controls (p=0.22). Immunohistochemistry showed caveolin expression in human retina, ciliary muscle, trabecular meshwork, and Schlemm's canal. In our small cohort of donor eyes, the genotype of rs4236601 did not obviously influence labeling intensity or distribution of CAV1 and CAV2 in the retina., Conclusions: A genome-wide association study of subjects from Iceland mapped the first common genetic risk factor for POAG to a small region of the genome on chromosome 7q31 that contains the caveolin genes CAV1 and CAV2. We were unable to detect this association in our patients from Iowa, suggesting that this risk factor may not have a strong effect in all populations.

MedsInfo-ED is a proof-of-concept clinical data exchange project that uses prescription claims data to deliver patient medication history to emergency department clinicians at the point of care. This patient safety initiative, while limited in scope and scale, has been crucial in identifying numerous policy and regulatory barriers to successful clinical data exchange. The lessons learned and strategies to overcome the barriers are the focus of this paper. Through commitment and effective collaboration, MA-SHARE was able to address some of these barriers that are embedded in existing government regulations and corporate business practice.

Purpose: To determine if tobacco or alcohol consumption is associated with vision loss among sibships harboring pathogenic mitochondrial mutations associated with Leber hereditary optic neuropathy., Methods: Retrospective case-control study with questionnaires obtained from both affected and unaffected siblings from 80 sibships with Leber hereditary optic neuropathy. Sibships harbored molecularly confirmed mitochondrial DNA mutations at nucleotide positions 11778 (63), 14484 (10), and 3460 (7). Exposure in affected individuals was calculated based on reported consumption before vision loss., Results: For male probands (67 sibships), the recurrence risk within a sibship was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female probands (13 sibships), the recurrence risk within a sibship was 17.6% (three of 17) for males and 0% (zero of 22) for females. Greater risk of vision loss was associated with male sex (odds ratio [OR] = 6.63; 95% confidence interval [CI] = 2.96 to 14.84; P =.00001) and harboring a 3460 or 14484 in comparison with the 11778 mutation (OR = 2.071; 95% CI = 1.19 to 3.58; P =.0095). No significant association of maximal intensity of smoking or cumulative smoking, whether light or heavy, with vision loss was observed. Light (OR = 0. 31; 95% CI = 0.17 to 0.56; P =.0001) and heavy alcohol consumers (OR = 0.25; 95% CI = 0.11 to 0.58; P =.0011) were less likely to be affected than individuals who did not consume alcohol after adjusting for age, sex, and mutation. In a categorical analysis of sibships with the 3460 or 14484 mutation, no relationship of vision loss with tobacco or alcohol consumption was observed., Conclusion: Unlike previous studies, the present study calculated exposure based on self-reported consumption of tobacco or alcohol before vision loss. No significant deleterious association between tobacco or alcohol consumption and vision loss among individuals harboring Leber hereditary optic neuropathy mutations was observed. Tobacco and alcohol do not appear to promote vision loss in Leber hereditary optic neuropathy.

As systems of health care delivery have evolved from claims-based fee-for-service to capitated or managed care, with its emphasis on cost-effectiveness, quality, and performance measurement, some states have begun to experiment with new ways to collect, organize, and share health information. In many cases, the drivers of these changes have been purchasers of health care, including large and small private employers and public agencies such as Medicaid. One of the results of these changes is the increased interest in the sharing of health information, between health plans and employers, and, in some instances, between private plans and public agencies such as public health. Massachusetts, which has one of the highest rates of managed care penetration in the United States, has brought together the various parties involved in the collection and utilization of health information, to craft agreements on standards and protocols that will allow the sharing of health data. While much of the activity involves business transactions between private sector health plans, the Department of Medical Assistance (Medicaid) has joined with its private sector purchasing partners in demanding cost-effective, high-quality care; it is these demands that have helped stimulate the need to reorganize previously proprietary health information systems. The activities of two public-private coalitions, the Massachusetts Healthcare Purchaser Group and the Massachusetts Health Data Consortium, have been critical in initiating and supporting the complex processes that have led to significant changes in state-based systems of health information.

The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of four families with Avellino dystrophy mapped the disease-causing gene to chromosome 5q. Subsequent linkage analysis of two families with typical lattice dystrophy and two with typical granular dystrophy also revealed significant linkage with the same markers. Thus, each of three clinically and histopathologically distinct phenotypes is independently linked to 5q. The maximum combined lod score using all 114 affected patients was 28.6 with marker D5S393. None of the 14 known human amyloid-associated genes map to chromosome 5.