SAGE Open Med Case Rep
July 2024
Lactic acidosis is a common finding in the intensive care unit and is associated with increased mortality. We present the case of a 42-year-old male with alcohol use disorder and cirrhosis who developed sudden onset shortness of breath while smoking marijuana. He was found to have a lactic acid level of 25.
View Article and Find Full Text PDFObjective: A growing consensus has emerged regarding the importance of stakeholder involvement in mental health services research. To identify barriers to and the extent of stakeholder involvement in participatory research, the authors undertook a mixed-methods study of researchers and community members who reported participation in such research.
Methods: Eight consultative focus groups were conducted with diverse groups of stakeholders in mental health services research (N=51 unique participants, mostly service users), followed by a survey of service users, family members, community providers, and researchers (N=98) with participatory research experience.
During sex determination in the mouse, fibroblast growth factor 9 signals through the fibroblast growth factor receptor 2c isoform (FGFR2c) to trigger Sertoli cell and testis development from 11.5 days post coitum (dpc). In the XX gonad, the FOXL2 and WNT4/RSPO1 pathways drive granulosa cell and ovarian development.
View Article and Find Full Text PDFAtmospheric models of secondary organic aerosol (OA) (SOA) typically rely on parameters derived from environmental chambers. Chambers are subject to experimental artifacts, including losses of (1) particles to the walls (PWL), (2) vapors to the particles on the wall (V2PWL), and (3) vapors to the wall directly (VWL). We present a method for deriving artifact-corrected SOA parameters and translating these to volatility basis set (VBS) parameters for use in chemical transport models (CTMs).
View Article and Find Full Text PDF46,XY gonadal dysgenesis (GD) is a Disorder/Difference of Sex Development (DSD) that can present with phenotypes ranging from ambiguous genitalia to complete male-to-female sex reversal. Around 50% of 46,XY DSD cases receive a molecular diagnosis. In mice, Fibroblast growth factor 9 (FGF9) is an important component of the male sex-determining pathway.
View Article and Find Full Text PDFPatients with relapsed/refractory (R/R) diffuse large B-cell lymphoma (DLBCL) have heterogeneous outcomes; durable remissions are infrequently observed with standard approaches. Circulating tumor DNA (ctDNA) assessment is a sensitive, potentially prognostic tool in this setting. We assessed baseline ctDNA to identify patients with R/R DLBCL at high risk of relapse after receiving polatuzumab vedotin and bendamustine plus rituximab (BR) or BR alone.
View Article and Find Full Text PDFSRY is the Y-chromosomal gene that determines male sex development in humans and most other mammals. After three decades of study, we still lack a detailed understanding of which domains of the SRY protein are required to engage the pathway of gene activity leading to testis development. Some insight has been gained from the study of genetic variations underlying differences/disorders of sex determination (DSD), but the lack of a system of experimentally generating SRY mutations and studying their consequences in vivo has limited progress in the field.
View Article and Find Full Text PDFMining activities in Canada's pristine Arctic (e.g., driving on unpacked roads, blasts, rock grinding, diesel combustion, and garbage incineration) could add local sources of airborne fine particulate matter with a diameter of < 2.
View Article and Find Full Text PDFUrban noise pollution is an emerging public health concern in growing cities in sub-Saharan Africa (SSA), but the sound environment in SSA cities is understudied. We leveraged a large-scale measurement campaign to characterize the spatial and temporal patterns of measured sound levels and sound sources in Accra, Ghana. We measured sound levels and recorded audio clips at 146 representative locations, involving 7-days (136 locations) and 1-year measurements between 2019 and 2020.
View Article and Find Full Text PDFHuman multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.
View Article and Find Full Text PDFA peer respite is a voluntary, short-term, overnight program that provides community-based mutual support to people experiencing a mental health crisis. This qualitative study of guest experiences at 1 peer respite examines its role in fostering recovery and wellbeing. Conventional content analysis of interviews with 20 peer respite guests resulted in a thematic framework containing 7 "clusters" of themes with related subthemes.
View Article and Find Full Text PDFIn mice, male sex determination depends on FGF9 signalling via FGFR2c in the bipotential gonads to maintain the expression of the key testis gene SOX9. In humans, however, while FGFR2 mutations have been linked to 46,XY disorders of sex development (DSD), the role of FGF9 is unresolved. The only reported pathogenic mutations in human FGF9, FGF9S99N and FGF9R62G, are dominant and result in craniosynostosis (fusion of cranial sutures) or multiple synostoses (fusion of limb joints).
View Article and Find Full Text PDFSocial determinants of health-defined by the World Health Organization as "the social factors and physical conditions of the environment in which people are born, live, learn, play, work, and age"-are increasingly discussed as having relevance in community mental health service systems. This brief report describes how self-direction-an approach in which people with serious mental health conditions choose the services and supports that work best for them to support their recovery-is a tool that may directly and uniquely promote the social determinants of health by expanding the bounds of traditional service delivery to address the needs of the whole person.
View Article and Find Full Text PDFJ Health Care Poor Underserved
May 2021
Peer respites are short-term residential mental health programs staffed by peers with lived experience of mental distress. This case study examines qualitative data of peer staff and non-peer program directors' experiences working at the first peer respite in California. Throughout a five-year study (2010-2015), researchers conducted 20 semi-structured interviews and three focus groups with 25 peer staff and three program directors.
View Article and Find Full Text PDFOvarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of female infertility. Little is known of the genetic basis of diminished ovarian reserve, while premature ovarian insufficiency often has a genetic basis, with genes affecting various processes. NR5A1 is a key gene required for gonadal function, and variants are associated with a wide phenotypic spectrum of disorders of sexual development, and are found in 0.
View Article and Find Full Text PDFMental health self-direction involves participant control of an individualized budget to support recovery and wellness goals. This quasi-experimental study examined whether self-direction is associated with changes in service utilization. The study involved 2 years of administrative data for 94 self-directing participants and a matched comparison group of 529 non-participants with similar observed characteristics.
View Article and Find Full Text PDFAn amendment to this paper has been published and can be accessed via a link at the top of the paper.
View Article and Find Full Text PDFObjective: Mental health self-direction, also known as , involves an individual budget controlled by the participant with support from a specially trained recovery coach. The model under study here, implemented in a Medicaid behavioral health managed care context, allowed individuals to intentionally reduce mental health service use and apply cost savings as "Freedom Funds" to purchase a range of goods and services that are not typically considered mental health services to support recovery. This pre-post study examined mental health service utilization and cost before and after participating in self-direction.
View Article and Find Full Text PDFBackground: Components of the metabolic syndrome (MetS) are involved in colorectal cancer development and the incidence of the disease is higher in obese and diabetic patients. Nevertheless, the value of these diseases or the MetS as a whole as prognostic markers once colorectal cancer is diagnosed is controversial.
Methods: Patients with metastatic colorectal cancer treated in our center over a 6-year period were reviewed and data on baseline characteristics of the patients and their cancers were extracted.
Disorders of sex development (DSDs) are conditions affecting development of the gonads or genitalia. Variants in two key genes, SRY and its target SOX9, are an established cause of 46,XY DSD, but the genetic basis of many DSDs remains unknown. SRY-mediated SOX9 upregulation in the early gonad is crucial for testis development, yet the regulatory elements underlying this have not been identified in humans.
View Article and Find Full Text PDFSeveral recent reports have described a missense variant in the gene NR5A1 (c.274C>T; p.Arg92Trp) in a significant number of 46,XX ovotesticular or testicular disorders of sex development (DSDs) cases.
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