Newborn Screening for ß-Thalassemia Identifies a Complex Genotype Involving a Novel ß-Globin Gene Mutation (HBB:c.336dup).

Newborn screening identified a Chinese-Canadian infant who was positive for possible ß-thalassemia (ß-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese Gγ(Aγδß)0-thal deletion and a novel frameshift mutation within exon 3 (HBB:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (--SEA/αα). This case illustrates the importance of follow-up molecular testing of positive newborn screening results to confirm the diagnosis and define risks for future pregnancies.

ß0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

We report two hemoglobinopathy cases involving a novel ß-thalassemia (ß-thal) nonsense mutation, HBB:c.199A > T. One patient had Hb S/ß-thal, and a second unrelated patient had Hb D-Punjab/ß-thal. The HBB:c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A2 ß0-thal.

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/ß0-Thalassemia.

We report a case of Hb S/ß0-thalassemia (Hb S/ß0-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBB:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause ß0-thal.

A conceptual model of how mental health clubhouses impact health and quality of life among individuals with serious mental illness.

OBJECTIVE: People with serious mental illness (PWSMI) experience dramatic disparities in health, quality of life, and longevity. Mental health Clubhouses are a community-based treatment model that can positively affect health and quality of life among PWSMI. However, few studies investigate the processes within Clubhouses and what factors are related to the improvement of health and quality of life among members. To address this gap, this research offers a conceptual model of how Clubhouses contribute to health and quality of life. METHOD: This conceptual model was created using participatory qualitative methods, combining Photovoice and grounded theory. Forty-two participants (37 Clubhouse members and six staff) from four Clubhouses in Hawai'i were engaged in 22 sessions over the course of 2 years. RESULTS: The conceptual model begins with quality of participation in Clubhouse activities, which refers not only to being present in the Clubhouse but being actively and meaningfully engaged in Clubhouse activities. Engagement in Clubhouse activities and working side-by-side with members and staff led to reciprocal social support. As members were supported and supported others, they gained a sense that they mattered, and they perceived themselves as more capable, more efficacious, and less stigmatized over time. They became a contributing member of a community, which supported health and quality of life directly and indirectly. CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: This work offers a novel conceptual framework of Clubhouse processes that highlights the importance and potential of empowering psychosocial treatment models. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Native Hawaiians' Views on Depression and Preferred Behavioral Health Treatments: a Preliminary Qualitative Investigation.

Behavioral health issues, especially depression, are a major health disparity concern for Native Hawaiians in Hawai'i. Following the cultural safety framework and contextual behavioral science approach to intervention development, the present preliminary qualitative investigation aimed to gather better insight into Native Hawaiians' views of depression and its causes as well as their preferred forms of behavioral health services. Data were initially collected from a 2-hour virtual focus group with three behavioral health service providers working with Native Hawaiians, followed by a total of 38 online one-on-one in-depth interviews with Native Hawaiian clients with depression (n = 19), behavioral health service providers working with Native Hawaiian adults (n = 9), and Native Hawaiian cultural leaders (n = 10). Our qualitative data suggested that Native Hawaiians tend to view depression contextually and socioculturally as the manifestation of one's vital connection to the 'aina (land), 'ohana (family; continuity from ancestry and future generations), community, culture/spirituality, and one's authentic self being disrupted. Our findings also suggested that Native Hawaiians often attribute these disruptions to disparities due to the ongoing impact of colonization, historical trauma, and cultural loss. As a preferred form of treatment for depression, participants recommended various Hawaiian cultural practices to be integrated into existing behavioral health services to nurture the above-mentioned vital connection.

Can Photovoice foster the development of social support?

Photovoice is a participatory, photo-based research method that differs from conventional (non-participatory) research in that the process is meant to be empowering and beneficial. However, empirical research on the Photovoice process remains very limited. Based on feedback from participants who reported Photovoice helped them develop closer relationships, we examine whether engaging in Photovoice fosters social support. Transcripts from a Photovoice study on wellness in mental health Clubhouses (voluntary, community mental health centers) were retrospectively analyzed for instrumental support, appraisal, informational support, and emotional support. Appraisal was the most common form of social support identified, and was primarily expressed through peer praise for photos and insights. Informational support included advice on managing symptoms, promoting wellness, and navigating challenges. Instrumental support was fostered by learning the tangible skill of digital photography and by supporting fellow members with physical or visual limitations to participate in the process. Emotional support was cultivated through encouragement, identification of shared experiences, and connection through humor. In sum, the findings suggest that Photovoice has the potential to foster social support, which may support relational empowerment.

Health Literacy, Social Networks, and Health Outcomes among Mental Health Clubhouse Members in Hawai'i.

Health literacy is the ability to obtain and utilize health information to make health-related decisions and to navigate health systems. Although health literacy has traditionally been understood as an individual-level construct, current research is revealing the impact that social networks can have on health literacy. To date, no studies have examined associations between health literacy and social networks among people with serious mental illness (PWSMI), who are at high risk of physical illness and premature mortality. To begin to fill this gap, this study explores associations between health literacy, relationships with health discussion partners, and self-reported health outcomes in a racially diverse sample of Clubhouse members in Hawai'i. Clubhouses are community mental health centers that promote recovery from mental illness through destigmatization, meaningful activity, and strong social relationships. Health literacy was assessed using two single-item screeners (SILS). In a sample of 163 members, 56.2% reported adequate ability to understand health-related instructions or pamphlets, and 43.3% reported adequate confidence filling out medical forms independently. This is consistent with other health literacy studies with PWSMI in the United States, and indicates lower health literacy within this group than is reported in national averages. Multivariate logistic regression revealed a larger Clubhouse staff social network and completing high school were significantly associated with requiring less help to read materials. Higher age, male gender, and being Native Hawaiian and/or Pacific Islander were associated with less confidence filling out medical forms, while higher self-efficacy was associated with higher confidence filling out medical forms. This study provides preliminary evidence that relationships fostered within Clubhouses are associated with health literacy among PWSMI, and highlights the need for more research to examine how social networks and health literacy interventions can be leveraged in community mental health settings to improve health outcomes within this vulnerable population.

Uncoupling Inequality: Reflections on the Ethics of Benchmarks for Digital Media.

Our collaboration seeks to demonstrate shared interrogation by exploring the ethics of machine learning benchmarks from a socio-technical management perspective with insight from public health and ethnic studies. Benchmarks, such as ImageNet, are annotated open data sets for training algorithms. The COVID-19 pandemic reinforced the practical need for ethical information infrastructures to analyze digital and social media, especially related to medicine and race. Social media analysis that obscures Black teen mental health and ignores anti-Asian hate fails as information infrastructure. Despite inadequately handling non-dominant voices, machine learning benchmarks are the basis for analysis in operational systems. Turning to the management literature, we interrogate cross-cutting problems of benchmarks through the lens of coupling, or mutual interdependence between people, technologies, and environments. Uncoupling inequality from machine learning benchmarks may require conceptualizing the social dependencies that build structural barriers to inclusion.

Understanding the Role of Mental Health Clubhouses in Promoting Wellness and Health Equity Using Pilinaha-An Indigenous Framework for Health.

Individuals with severe mental illness need to be engaged in defining their own vision of wellness to promote equity and reduce disparities. This photovoice study helps define what wellness is and how it is achieved in mental health Clubhouses in Hawai'i. Results from a photovoice study with 43 members and staff were analyzed using Pilinaha, a Native Hawaiian framework for health. Pilinaha envisions health through connection to place, community, past and future, and one's better self. Within Clubhouses, connection to place included connection to 'aina (land) and the access to a safe space. Connection to community occurred through reciprocal social support, which developed kuleana (responsibility), and a sense of 'ohana (family) for many members who were previously isolated. Connection to one's better self-involved positive identity change, development of hope, and pursuing opportunities within and outside the Clubhouse. Connection to past and future was described through individual narratives, remembering members who had died, and connection to cultural traditions. Overall, wellness was conceptualized as the ability to work toward dreams, engage in cultural practice, and feel accepted, respected, and valued-to be treated with aloha. Findings provide a culturally responsive perspective on wellness and illustrate the value of Clubhouses as a space for mental health recovery and transformative change.

[A Case of Ventriculoperitoneal Shunt Dysfunction in an Adult Secondary to Constipation].

INTRODUCTION: Ventriculoperitoneal(VP)shunts function because of the pressure differential between the intracranial space and the peritoneal cavity. Although chronic constipation is often a cause of VP shunt dysfunction in children, it is not well recognized in adults. We present a case of shunt dysfunction that not only resolved after resolution of constipation but also resulted in overdrainage. CASE REPORT: A 28-year-old woman who had a VP shunt placed 11 years prior for hydrocephalus was referred to our department because of an enlarged ventricle diagnosed with computed tomography(CT). She had a previous history of pineal germinoma and a VP shunt was placed to treat the associated hydrocephalus. At presentation, she complained of headache and somnolence. Shunt dysfunction was suspected, but no problem was detected in the shunt system, including pressure settings. As constipation was detected, we treated this condition. Soon after, her symptoms resolved and ventricle size normalized. She was discharged without any deficit, but overdrainage was detected with CT obtained 1 month later. CONCLUSION: Although constipation is not a common cause of shunt dysfunction in adult patients, it is important to consider to avoid unnecessary shunt revision. In the present case, resolution of chronic constipation resulted in resolution of shunt dysfunction. This suggests the importance of resolution of constipation in case of shunt adjustment, even in adult cases.

Characterization of Two Novel Deletions Involving the 5' Region of the ß-Globin Gene.

We report two novel ß-thalassemia (ß-thal) deletions involving the 5' region of the ß-globin gene (HBB). The first deletion spans 538 bp and removes the ß-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E (HBB: c.79G>A)/ß0-thal. The second deletion spans 1517 bp and removes the ß-globin gene promoter, 5'UTR, and exons 1 and 2. This deletion was identified in two unrelated adults of European descent who had ß-thal trait with unusually high Hb A2 levels. Deletions such as these are generally associated with higher levels of Hb A2 and Hb F than typical ß-thal alleles, which may ameliorate the severity of the disease.

α0-Thalassemia Due to a 90.7 kb Deletion (- -NFLD).

We report an α0-thalassemia (α0-thal) trait in Newfoundlanders caused by a novel 90.7 kb deletion. The deletion, designated the Newfoundland deletion (- -NFLD), removes both the HBA2 and HBA1 genes, while leaving the HBZ gene intact. The 5' deletion endpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3' deletion endpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene. This is the second α0-thal deletion reported in Newfoundland families of northern European descent.

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).

We report two Italian-Canadian families with α+-thalassemia (α+-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.

Sudanese (뫧)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.

We report a case of δß-thalassemia (δß-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the ß-globin gene.

α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.

Non-thalassemic phenotype associated with the -83 (G > A) mutation of the ß-globin gene promoter (HBB: c.-133G > A).

The -83 (G > A) mutation of the ß-globin gene promoter (HBB: c.-133G > A) was first reported in an adult male patient with mild thalassemic indices, suggesting that this may be a mild ß(+)-thalassemia (ß(+)-thal) allele. In this report, we present data from several patients who are simple heterozygotes for the -83 mutation, or compound heterozygotes for -83 and Hb S (HBB: c.20A > T) or ß-thal. These cases illustrate that the -83 sequence variant is not associated with a thalassemic phenotype. This has important implications for carrier screening and genetic counseling, particularly since the -83 mutation is relatively common in African and Hispanic populations.

Mild ß(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

We report four unrelated families with a mild ß(+)-thalassemia (ß(+)-thal) allele consisting of two sequence variants at the 3' end of IVS-II: IVS-II-839 (T>C) (HBB: c.316-12T>C) and IVS-II-844 (C>A) (HBB: c.316-7C>A). These sequence variants alter the conserved polypyrimidine tract of the consensus splice acceptor sequence (Y11NYAG/G), which could reduce splicing efficiency. This may represent a common, yet under-diagnosed ß(+)-thal allele in African populations.

Normal Hb A2 ß-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).

We report the case of a father and daughter who are heterozygous for a duplication of 65 bp within exon 2 of the ß-globin gene, resulting in an altered and truncated ß-globin chain that is predicted to be non functional. The ß-globin gene mutation is in cis with the common Hb A2 ' missense mutation of the δ-globin gene (HBD: c.49G>C), resulting in ß-thalassemia (ß-thal) trait with normal levels of Hb A2. This is the second report of this ß(0)-thal mutation, and both families were associated with the Hb A2 ' variant and normal levels of Hb A2. Laboratories should be aware of the rare occurrence of ß-thal trait with normal levels of Hb A2.