RESUMEN
MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes of five patients from four families with confirmed MPZL2-related hearing loss. A rare missense likely pathogenic variant [NM_005797.4(MPZL2):c.280C>T,p.(Arg94Trp)] located in exon 3 was confirmed to be in trans with a recurrent pathogenic truncating variant that segregated with hearing loss in three of the patients from two unrelated families. This is the first recurrent likely pathogenic missense variant identified in MPZL2. Apparently milder or later-onset hearing loss associated with rare missense variants in MPZL2 indicates that some missense variants in this gene may cause a milder phenotype than that resulting from homozygous or compound heterozygous truncating variants. This study, along with the identification of truncating loss of function and missense MPZL2 variants in several diverse populations, suggests that MPZL2-related hearing loss may be more common than previously appreciated and demonstrates the need for MPZL2 inclusion in hearing loss testing panels.
Asunto(s)
Moléculas de Adhesión Celular , Pérdida Auditiva Sensorineural , Humanos , Moléculas de Adhesión Celular/genética , Sordera/genética , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Mutación Missense/genética , Linaje , FenotipoRESUMEN
OBJECTIVE: Clinical street outreach programs serve people experiencing unsheltered homelessness, who have been shown to have greater medical and psychiatric comorbidities, and increased social and financial challenges. However, outreach programs may struggle in practice to engage the most vulnerable of these individuals. METHODS: Data from the Veterans Health Administration's (VHA's) Homeless Operations Management System (HOMES) from 2018 to 2019 (N = 101,998) were used to compare sociodemographic, clinical, and financial characteristics of literally homeless veterans contacted through street outreach to those who were self-referred or clinic-referred. RESULTS: Veterans engaged through street outreach reported substantially more days of unsheltered homelessness in the past month (mean (M) = 11.18 days, s.d.=13.8) than the clinic-referred group (M = 6.75 days, s.d.=11.1), and were more likely to have spent the past 30 days unsheltered (RR = 2.23). There were notably few other differences between the groups. CONCLUSION: Despite epidemiologic evidence in the literature showing higher medical, psychiatric, and social and financial vulnerabilities among unsheltered homeless individuals, our street outreach group was not found to be any worse off on such variables than the clinic-referred or self-referred groups, other than increased time unsheltered. Outreach workers seem to engage more unsheltered individuals, but do not necessarily engage those with such severe vulnerabilities. Dedicated outreach program funding, training, and support are needed to support street outreach to those with the most severe problems.
Asunto(s)
Personas con Mala Vivienda , Veteranos , Humanos , Servicios de Salud , Instituciones de Atención Ambulatoria , Derivación y ConsultaRESUMEN
A patient shouts what he suspects is my racial background at my face. A colleague repeats a patient's racist remarks against me; I lurk in my whiteness to cope. A compliment about my Asianness lands as a racist devaluation of both sides of my heritage. The medical licensing board does not include my race on its registration form. Straddling the boundary of Asian and White as a biracial female psychiatrist, I struggle to handle exoticization, discriminatory assumptions, and subtle marginalization by patients and colleagues. I grapple with the privilege of light-skinned ethnic ambiguity vs the disrespect for having features deviating from the imagined physician appearance. In this piece, I introduce a nuanced dialog about race and advocate for recognition and inclusion of biracial and multiracial minority medical practitioners who defy oversimplified racial categories.
Asunto(s)
Discriminación en Psicología , Médicos/psicología , Racismo , Adaptación Psicológica , Etnicidad , Femenino , Humanos , Grupos MinoritariosRESUMEN
"Street psychiatry" is an innovative model that serves people experiencing unsheltered homelessness, a vulnerable population with increased rates of mental illness and substance use disorders. Through community-based delivery of mental health and addiction treatment, street psychiatry helps the street-dwelling population overcome barriers to accessing care through traditional routes. Throughout the United States, street psychiatry programs have arisen in multiple cities, often in partnership with street medicine programs. We discuss the philosophy of street psychiatry, document operational highlights involved in the development of a street psychiatry program in New Haven, CT, suggest key ingredients to implementing a street psychiatry program, and explore challenges and future frontiers. Street psychiatry is an effective person-centered model of service delivery with the potential to be applied in a variety of urban settings to serve people experiencing street homelessness.
Asunto(s)
Personas con Mala Vivienda , Psiquiatría , Trastornos Relacionados con Sustancias , Humanos , Trastornos Relacionados con Sustancias/terapia , Tomografía Computarizada por Rayos X , Estados UnidosRESUMEN
OBJECTIVE: The study aimed to evaluate differences in age, gender, race, and ethnicity between a population served by a street psychiatry team and the local community of people experiencing unsheltered homelessness in order to identify intersectional inequities in care. METHODS: We tested for bivariate associations between patient affiliation and age, gender, race, and ethnicity using a Welch two sample t-test for the continuous term (age) and Pearson's chi-squared test with Yates' continuity correction for the categorical terms (gender, race, and ethnicity). RESULTS: The CMHC Street Psychiatry Team served a population (N = 200) that was significantly older (p<.001) and composed of proportionally fewer women (p = .010) and people of color (p<.001) than the local population experiencing unsheltered homelessness (N = 944). CONCLUSIONS: This process of critical evaluation identified disparities in service provision which prompted re-evaluation of services to target efforts to those most at risk of marginalization.
Asunto(s)
Personas con Mala Vivienda , Servicios de Salud Mental , Etnicidad , Femenino , Personas con Mala Vivienda/psicología , Humanos , Salud Mental , Problemas SocialesRESUMEN
OBJECTIVE: Substance use disorders affect 30%-50% of single homeless adults, and specialized homelessness service programs enable homeless persons to exit homelessness at rates of about 80%. However, many such adults are treated in substance use disorder treatment programs. This study examined housing outcomes in these programs. METHODS: Data from the Treatment Episode Data Set: Discharges database were used to examine housing status at discharge from substance use disorder treatment programs of adults who were homeless at admission. Associations of outcomes with sociodemographic characteristics, treatment programs and processes, and clinical variables were further evaluated with bivariate and multivariate logistic regressions. Odds ratios of ≥1.5 or ≤0.67 were considered meaningful. RESULTS: Of 1,200,105 persons admitted to the programs, 192,838 (16.1%) were homeless at admission; 68.7% remained homeless at discharge, 16.3% were discharged to dependent housing, and only 15.0% were discharged to independent housing. Factors associated with remaining homeless included being age ≥55 years, being unemployed, admission for detoxification (vs. rehabilitation or residential treatment or ambulatory treatment), shorter stays, and program noncompletion. Factors associated with discharge to independent versus dependent housing included employment, admission to nonintensive outpatient treatment, and, unexpectedly, shorter stays. CONCLUSIONS: Most adults experiencing homelessness at admission to substance use disorder treatment programs remained homeless at discharge, and only half of those no longer homeless were independently housed. These outcomes are considerably worse than outcomes typically reported by specialized homelessness service programs. Evidence-based service models that support exit from homelessness could be provided through augmented internal programming or links with specialized programs.
Asunto(s)
Personas con Mala Vivienda , Trastornos Relacionados con Sustancias , Adulto , Hospitalización , Vivienda , Humanos , Persona de Mediana Edad , Tratamiento Domiciliario , Trastornos Relacionados con Sustancias/epidemiología , Trastornos Relacionados con Sustancias/terapiaRESUMEN
America faces widespread gun violence and police brutality against Black citizens and persons with severe mental illness (SMI). Violence perpetrated against unarmed patients is common in health care, and evidence-based safety measures are needed to acknowledge and eradicate clinical violence. Community mental health centers (CMHCs) serve many patients of color and persons with SMI, so their overreliance on police or building security deserves ethical and clinical consideration. Policing of Black persons' health care begins in powerful, false narratives that White persons need protection from dangerous Black citizens who reside in urban areas or who have mental illness. This article considers White supremacist origins of the myths making CMHCs sites of policing and trauma rather than safety and healing and offers recommendations for advancing policy and practice.