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Article ; Online: Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

Crane, Haley M / Asher, Stephanie / Conway, Laura / Drivas, Theodore G / Kallish, Staci

American journal of medical genetics. Part A

2024 , Page(s) e63574

Abstract: RBCK1-related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to ... ...

Abstract	RBCK1-related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1-related disease. This study carried out a phenotypic comparison between RBCK1-related disease and GSD IV to identify features that clinically differentiate these diagnoses. Literature review and retrospective chart review identified 25 individuals with RBCK1-related disease and 36 with the neuromuscular subtype of GSD IV. Clinical features were evaluated to assess for statistically significant differences between the conditions. At a system level, any cardiac, autoinflammation, immunodeficiency, growth, or dermatologic involvement were suggestive of RBCK1, whereas any respiratory involvement suggested GSD IV. Several features warrant further exploration as predictors of RBCK1, such as generalized weakness, heart transplant, and recurrent infections, among others. Distinguishing RBCK1-related disease will facilitate correct diagnoses and pave the way for accurately identifying affected individuals, as well as for developing management recommendations, treatment, and an enhanced understanding of the natural history. This knowledge may also inform which individuals thought to have GSD IV should undergo reevaluation for RBCK1.
Language	English
Publishing date	2024-03-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63574
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Article ; Online: Type I interferons, inflammation, and fatigue in a longitudinal RNA study of women with breast cancer.

Bower, Julienne E / Ganz, Patricia A / Irwin, Michael R / Crespi, Catherine M / Petersen, Laura / Asher, Arash / Hurvitz, Sara A / Cole, Steve W

Brain, behavior, and immunity

2024 Volume 118, Page(s) 312–317

Abstract: Background: Fatigue is a common side effect of cancer and its treatment and is thought to be driven in part by activation of the proinflammatory cytokine network. However, the cellular and molecular underpinnings of cancer-related fatigue (CRF) have not ...

Abstract	Background: Fatigue is a common side effect of cancer and its treatment and is thought to be driven in part by activation of the proinflammatory cytokine network. However, the cellular and molecular underpinnings of cancer-related fatigue (CRF) have not been determined, nor have immune pathways beyond inflammation been carefully investigated. The goal of this study was to examine the association between CRF and activation of canonical proinflammatory gene regulation pathways and Type I interferon (IFN) signaling pathways in breast cancer patients during and after treatment. Methods: Women diagnosed with early-stage breast cancer (n = 181) completed assessments before and after treatment with radiation and/or chemotherapy and at 6, 12, and 18-month post-treatment follow-ups. Assessments included self-reported fatigue (Multidimensional Fatigue Symptom Inventory - Short Form) and expression of pre-specified sets of Type I IFN and pro-inflammatory immune response genes determined from mRNA sequencing of PBMCs. Mixed effect linear models examined changes in fatigue and immune gene expression over time and tested the hypothesis that fatigue would be associated with increased expression of Type I IFN and inflammatory response genes. Results: There were significant changes in fatigue and immune gene expression across the assessment period; all measures increased from pre- to post-treatment but showed diverging patterns over the follow-up, with declines in fatigue and persistent elevations in Type I IFN and proinflammatory gene expression. In mixed effect linear models, expression of Type I IFN response genes was elevated in association with fatigue across the assessment period, from pre-treatment to 18-month follow-up. In contrast, pro-inflammatory gene expression was associated with fatigue only at 6, 12, and 18-month follow-ups. Analyses controlling for changes in leukocyte subsets continued to show a significant association between fatigue and Type I IFN gene expression but reduced the time-dependent association with pro-inflammatory gene expression to non-significant. Conclusions: Results revealed unexpected complexity in the immune underpinnings of CRF and identify a novel role for IFN signaling as a robust contributor to this symptom before, during, and after treatment. Pro-inflammatory gene expression emerged as a predictor of fatigue later in the cancer trajectory, and that effect was primarily accounted for by a concurrent increase in monocyte prevalence.
MeSH term(s)	Humans ; Female ; Breast Neoplasms/complications ; Interferon Type I ; RNA ; Fatigue/genetics ; Inflammation/complications
Chemical Substances	Interferon Type I ; RNA (63231-63-0)
Language	English
Publishing date	2024-02-05
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	639219-2
ISSN	1090-2139 ; 0889-1591
ISSN (online)	1090-2139
ISSN	0889-1591
DOI	10.1016/j.bbi.2024.02.003
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Zs.A 2276: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Community-based rehabilitation intervention for people with schizophrenia in Ethiopia (RISE): results of a 12-month cluster-randomised controlled trial.

Asher, Laura / Birhane, Rahel / Weiss, Helen A / Medhin, Girmay / Selamu, Medhin / Patel, Vikram / De Silva, Mary / Hanlon, Charlotte / Fekadu, Abebaw

The Lancet. Global health

2024 Volume 10, Issue 4, Page(s) e530–e542

Abstract: Background: Community-based rehabilitation (CBR) is recommended to address the social and clinical needs of people with schizophrenia in resource-poor settings. We evaluated the effectiveness of CBR at reducing disability at 12 months in people with ... ...

Abstract	Background: Community-based rehabilitation (CBR) is recommended to address the social and clinical needs of people with schizophrenia in resource-poor settings. We evaluated the effectiveness of CBR at reducing disability at 12 months in people with schizophrenia who had disabling illness after having had the opportunity to access facility-based care for 6 months METHODS: This cluster-randomised controlled trial was conducted in a rural district of Ethiopia. Eligible clusters were subdistricts in Sodo district that had not participated in the pilot study. Available subdistricts were randomised (in a 1:1 ratio) to either the intervention group (CBR plus facility-based care) or to the control group (facility-based care alone). An optimisation procedure (accounting for the subdistrict mean WHO Disability Assessment Schedule (WHODAS) score and the potential number of participants per subdistrict) was applied for each of the eight health facilities in the district. An independent statistician, masked to the intervention or control label, used a computer programme to randomly choose the allocation sequence from the set of optimal ones. We recruited adults with disabling illness as a result of schizophrenia. The subdistricts were eligible for inclusion if they included participants that met the eligibility criteria. Researchers recruiting and assessing participants were masked to allocation status. Facility-based care was a task-shared model of mental health care integrated within primary care. CBR was delivered by lay workers over a 12-month period, comprising of home visits (psychoeducation, adherence support, family intervention, and crisis management) and community mobilisation. The primary outcome was disability, measured with the proxy-rated 36-item WHODAS score at 12 months. The subdistricts that had primary outcome data available were included in the primary analysis. This study is registered with ClinicalTrials.gov, NCT02160249. Findings: Enrolment took place between Sept 16, 2015 and Mar 11, 2016. 54 subdistricts were randomised (27 to the CBR plus facility-based care group and 27 to the facility-based care group). After exclusion of subdistricts without eligible participants, we enrolled 79 participants (66% men and 34% women) from 24 subdistricts assigned to CBR plus facility-based care and 87 participants (59% men and 41% women) from 24 subdistricts assigned to facility-based care only. The primary analysis included 149 (90%) participants in 46 subdistricts (73 participants in 22 subdistricts in the CBR plus facility-based care group and 76 participants in 24 subdistricts in the facility-based care group). At 12 months, the mean WHODAS scores were 46·1 (SD 23·3) in the facility-based care group and 40·6 (22·5) in the CBR plus facility-based care group, indicating a favourable intervention effect (adjusted mean difference -8·13 [95% CI -15·85 to -0·40]; p=0·039; effect size 0·35). Four (5%) CBR plus facility-based care group participants and nine (10%) facility-based care group participants had one or more serious adverse events (death, suicide attempt, and hospitalisation). Interpretation: CBR delivered by lay workers combined with task-shared facility-based care, was effective in reducing disability among people with schizophrenia. The RISE study CBR model is particularly relevant to low-income countries with few mental health specialists. Funding: Wellcome Trust.
MeSH term(s)	Adult ; Disabled Persons ; Ethiopia ; Female ; Humans ; Male ; Mental Health ; Pilot Projects ; Schizophrenia/rehabilitation
Language	English
Publishing date	2024-02-06
Publishing country	England
Document type	Journal Article ; Randomized Controlled Trial ; Research Support, Non-U.S. Gov't
ZDB-ID	2723488-5
ISSN	2214-109X ; 2214-109X
ISSN (online)	2214-109X
ISSN	2214-109X
DOI	10.1016/S2214-109X(22)00027-4
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Article ; Online: "Medical treatments are also part of God's gift": Holy water attendants' perspectives on a collaboration between spiritual and psychiatric treatment for mental illness in Ethiopia.

Asher, Laura / Birhanu, Ribka / Baheretibeb, Yonas / Fekadu, Abebaw

Transcultural psychiatry

2021 Volume 58, Issue 4, Page(s) 585–599

Abstract: In Ethiopia, traditional and spiritual treatments, such as holy water, are used by people with mental disorders instead of, or alongside, psychiatric services. Collaborations between traditional and psychiatric providers may increase access to evidence- ... ...

Abstract	In Ethiopia, traditional and spiritual treatments, such as holy water, are used by people with mental disorders instead of, or alongside, psychiatric services. Collaborations between traditional and psychiatric providers may increase access to evidence-based treatments and address human rights abuses. This study aimed to explore the perspectives of holy water attendants on a novel collaboration between holy water and psychiatric care, at St Mary's Clinic, Entoto, Ethiopia, and to characterize the users of this service. Semi-structured interviews were conducted with 14 holy water attendants, who run group houses for holy water residents and are paid by family members. A thematic analysis was conducted. Socio-demographic and clinical data were extracted from the records of all service users who had attended the clinic. A total of 174 individuals have attended the clinic in the three years since it opened. The majority were diagnosed with schizophrenia. Holy water attendants provide a partial gatekeeping role to psychiatric care, selecting which of their clients they think will benefit and, for these individuals, facilitating attendance to the clinic and antipsychotic medication adherence. Psychiatric care was felt to be compatible with holy water by some, but not all, attendants. However, family members often had the "final say" in individuals attending the clinic, in some cases putting up strong resistance to using psychiatric care. A novel collaboration is acceptable to some holy water attendants and may increase access to psychiatric care amongst people with mental illness living at a holy water site in Ethiopia.
MeSH term(s)	Ethiopia ; Humans ; Mental Disorders/therapy ; Psychotherapy ; Schizophrenia ; Water
Chemical Substances	Water (059QF0KO0R)
Language	English
Publishing date	2021-05-25
Publishing country	England
Document type	Journal Article
ZDB-ID	1378978-8
ISSN	1461-7471 ; 1363-4615
ISSN (online)	1461-7471
ISSN	1363-4615
DOI	10.1177/13634615211015082
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Article ; Online: Improving the mental health of women intimate partner violence survivors: Findings from a realist review of psychosocial interventions.

Paphitis, Sharli Anne / Bentley, Abigail / Asher, Laura / Osrin, David / Oram, Sian

PloS one

2022 Volume 17, Issue 3, Page(s) e0264845

Abstract: Background: Intimate partner violence (IPV) is highly prevalent and is associated with a range of mental health problems. A broad range of psychosocial interventions have been developed to support the recovery of women survivors of IPV, but their ... ...

Abstract	Background: Intimate partner violence (IPV) is highly prevalent and is associated with a range of mental health problems. A broad range of psychosocial interventions have been developed to support the recovery of women survivors of IPV, but their mechanisms of action remain unclear. Methods: Realist review following a prospectively published protocol in PROSPERO (CRD42018114207) and reported using the Realist and Meta-narrative Evidence Synthesis: Evolving Standards (RAMSES) guidelines. Results: Evidence was extracted from 60 reviews and triangulated in expert consultations. Mechanisms of action were categorised as either associated with intervention design and delivery or with specific intervention components (access to resources and services; safety, control and support; increased knowledge; alterations to affective states and cognitions; improved self-management; improved family and social relations). Conclusions: Findings suggest that psychosocial interventions to improve the mental health of women survivors of IPV have the greatest impact when they take a holistic view of the problem and provide individualised and trauma-informed support.
MeSH term(s)	Female ; Humans ; Intimate Partner Violence/psychology ; Mental Health ; Psychosocial Intervention ; Survivors/psychology
Language	English
Publishing date	2022-03-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0264845
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Article: Community-based rehabilitation intervention for people with schizophrenia in Ethiopia (RISE) cluster-randomised controlled trial: An exploratory analysis of impact on food insecurity, underweight, alcohol use disorder and depressive symptoms.

Asher, Laura / Birhane, Rahel / Weiss, Helen A / Medhin, Girmay / Selamu, Medhin / Patel, Vikram / De Silva, Mary / Hanlon, Charlotte / Fekadu, Abebaw

Global mental health (Cambridge, England)

2023 Volume 10, Page(s) e70

Abstract: We evaluated the effectiveness of community-based rehabilitation (CBR) in reducing depressive symptoms, alcohol use disorder, food insecurity and underweight in people with schizophrenia. This cluster-randomised controlled trial was conducted in a rural ... ...

Abstract	We evaluated the effectiveness of community-based rehabilitation (CBR) in reducing depressive symptoms, alcohol use disorder, food insecurity and underweight in people with schizophrenia. This cluster-randomised controlled trial was conducted in a rural district of Ethiopia. Fifty-four sub-districts were allocated in a 1:1 ratio to the facility-based care [FBC] plus CBR arm and the FBC alone arm. Lay workers delivered CBR over 12 months. We assessed food insecurity (self-reported hunger), underweight (BMI< 18.5 kg/m2), depressive symptoms (PHQ-9) and alcohol use disorder (AUDIT ≥ 8) at 6 and 12 months. Seventy-nine participants with schizophrenia in 24 sub-districts were assigned to CBR plus FBC and 87 participants in 24 sub-districts were assigned to FBC only. There was no evidence of an intervention effect on food insecurity (aOR 0.52, 95% CI 0.16-1.67;
Language	English
Publishing date	2023-10-23
Publishing country	England
Document type	Journal Article
ZDB-ID	2806466-5
ISSN	2054-4251
ISSN	2054-4251
DOI	10.1017/gmh.2023.67
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Article: Peer-led recovery groups for people with psychosis in South Africa (PRIZE): protocol for a randomised controlled feasibility trial.

Asher, Laura / Rapiya, Bongwekazi / Repper, Julie / Reddy, Tarylee / Myers, Bronwyn / Hanlon, Charlotte / Petersen, Inge / Brooke-Sumner, Carrie

Pilot and feasibility studies

2023 Volume 9, Issue 1, Page(s) 19

Abstract: Background: The available care for people with psychosis in South Africa is inadequate to support personal recovery. Group peer support interventions are a promising approach to foster recovery, but little is known about the preferences of service users, ...

Abstract	Background: The available care for people with psychosis in South Africa is inadequate to support personal recovery. Group peer support interventions are a promising approach to foster recovery, but little is known about the preferences of service users, or the practical application of this care model, in low- and middle-income countries (LMIC). This study aims to assess the acceptability and feasibility of integrating peer-led recovery groups for people with psychosis and their caregivers in South Africa into existing systems of care, and to determine key parameters in preparation for a definitive trial. Methods: The study is set in Nelson Mandela Bay Metropolitan district of the Eastern Cape Province, South Africa. The design is an individually randomised parallel group feasibility trial comparing recovery groups in addition to treatment as usual (TAU) with TAU alone in a 1:1 allocation ratio. We aim to recruit 100 isiXhosa-speaking people with psychosis and 100 linked caregivers. TAU comprises anti-psychotic medication-focused outpatient care. The intervention arm will comprise seven recovery groups, including service users and caregiver participants. Recovery groups will be delivered in two phases: a 2-month phase facilitated by an auxiliary social worker, then a 3-month peer-led phase. We will use mixed methods to evaluate the process and outcomes of the study. Intervention acceptability and feasibility (primary outcomes) will be assessed at 5 months post-intervention start using qualitative data collected from service users, caregivers, and auxiliary social workers, along with quantitative process indicators. Facilitator competence will be assessed with the GroupACT observational rating tool. Trial procedures will be assessed, including recruitment and retention rates, contamination, and validity of quantitative outcome measures. To explore potential effectiveness, quantitative outcome data (functioning, unmet needs, personal recovery, internalised stigma, health service use, medication adherence, and caregiver burden) will be collected at baseline, 2 months, and 5 months post-intervention start. Discussion: This study will contribute to the sparse evidence on the acceptability and feasibility of peer-led and recovery-oriented interventions for people with psychosis in LMIC when integrated into existing care systems. Results from this feasibility trial will inform preparations for a definitive trial and subsequent larger-scale implementation. Trial registration: Pan-African Clinical Trials Register PACTR202202482587686. Registered on 28 February 2022. https://pactr.samrc.ac.za/TrialDisplay.aspx?TrialID=21496 .
Language	English
Publishing date	2023-02-01
Publishing country	England
Document type	Journal Article
ZDB-ID	2809935-7
ISSN	2055-5784
ISSN	2055-5784
DOI	10.1186/s40814-022-01232-8
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Article ; Online: Improving the mental health of women intimate partner violence survivors

Sharli Anne Paphitis / Abigail Bentley / Laura Asher / David Osrin / Sian Oram

PLoS ONE, Vol 17, Iss

Findings from a realist review of psychosocial interventions

2022 Volume 3

Abstract: Background Intimate partner violence (IPV) is highly prevalent and is associated with a range of mental health problems. A broad range of psychosocial interventions have been developed to support the recovery of women survivors of IPV, but their ... ...

Abstract	Background Intimate partner violence (IPV) is highly prevalent and is associated with a range of mental health problems. A broad range of psychosocial interventions have been developed to support the recovery of women survivors of IPV, but their mechanisms of action remain unclear. Methods Realist review following a prospectively published protocol in PROSPERO (CRD42018114207) and reported using the Realist and Meta-narrative Evidence Synthesis: Evolving Standards (RAMSES) guidelines. Results Evidence was extracted from 60 reviews and triangulated in expert consultations. Mechanisms of action were categorised as either associated with intervention design and delivery or with specific intervention components (access to resources and services; safety, control and support; increased knowledge; alterations to affective states and cognitions; improved self-management; improved family and social relations). Conclusions Findings suggest that psychosocial interventions to improve the mental health of women survivors of IPV have the greatest impact when they take a holistic view of the problem and provide individualised and trauma-informed support.
Keywords	Medicine ; R ; Science ; Q
Subject code	360
Language	English
Publishing date	2022-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Improving the mental health of women intimate partner violence survivors

Sharli Anne Paphitis / Abigail Bentley / Laura Asher / David Osrin / Sian Oram

PLoS ONE, Vol 17, Iss 3, p e

Findings from a realist review of psychosocial interventions.

2022 Volume 0264845

Abstract	Background Intimate partner violence (IPV) is highly prevalent and is associated with a range of mental health problems. A broad range of psychosocial interventions have been developed to support the recovery of women survivors of IPV, but their mechanisms of action remain unclear. Methods Realist review following a prospectively published protocol in PROSPERO (CRD42018114207) and reported using the Realist and Meta-narrative Evidence Synthesis: Evolving Standards (RAMSES) guidelines. Results Evidence was extracted from 60 reviews and triangulated in expert consultations. Mechanisms of action were categorised as either associated with intervention design and delivery or with specific intervention components (access to resources and services; safety, control and support; increased knowledge; alterations to affective states and cognitions; improved self-management; improved family and social relations). Conclusions Findings suggest that psychosocial interventions to improve the mental health of women survivors of IPV have the greatest impact when they take a holistic view of the problem and provide individualised and trauma-informed support.
Keywords	Medicine ; R ; Science ; Q
Subject code	360
Language	English
Publishing date	2022-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Blood omega-3 fatty acids and death from COVID-19: A pilot study.

Asher, Arash / Tintle, Nathan L / Myers, Michael / Lockshon, Laura / Bacareza, Heribert / Harris, William S

Prostaglandins, leukotrienes, and essential fatty acids

2021 Volume 166, Page(s) 102250

Abstract: Very-long chain omega-3 fatty acids (EPA and DHA) have anti-inflammatory properties that may help reduce morbidity and mortality from COVID-19 infection. We conducted a pilot study in 100 patients to test the hypothesis that RBC EPA+DHA levels (the Omega- ...

Abstract	Very-long chain omega-3 fatty acids (EPA and DHA) have anti-inflammatory properties that may help reduce morbidity and mortality from COVID-19 infection. We conducted a pilot study in 100 patients to test the hypothesis that RBC EPA+DHA levels (the Omega-3 Index, O3I) would be inversely associated with risk for death by analyzing the O3I in banked blood samples drawn at hospital admission. Fourteen patients died, one of 25 in quartile 4 (Q4) (O3I ≥5.7%) and 13 of 75 in Q1-3. After adjusting for age and sex, the odds ratio for death in patients with an O3I in Q4 vs Q1-3 was 0.25, p = 0.07. Although not meeting the classical criteria for statistical significance, this strong trend suggests that a relationship may indeed exist, but more well-powered studies are clearly needed.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; COVID-19/blood ; COVID-19/mortality ; Docosahexaenoic Acids/blood ; Eicosapentaenoic Acid/blood ; Erythrocytes/metabolism ; Fatty Acids, Omega-3/blood ; Female ; Humans ; Male ; Middle Aged ; Pilot Projects ; Resuscitation Orders
Chemical Substances	Fatty Acids, Omega-3 ; Docosahexaenoic Acids (25167-62-8) ; Eicosapentaenoic Acid (AAN7QOV9EA)
Language	English
Publishing date	2021-01-20
Publishing country	Scotland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	286714-x
ISSN	1532-2823 ; 0952-3278
ISSN (online)	1532-2823
ISSN	0952-3278
DOI	10.1016/j.plefa.2021.102250
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