67 research outputs found
Self-compassion, camouflaging, and mental health in autistic adults
Background: Previous research shows that symptoms of anxiety and depression are positively correlated with camouflaging and negatively correlated with self-compassion in autistic adults. However, no study to date has considered the inter-relationships between autistic traits, camouflaging, self-compassion, and mental health in autistic adults.
Methods: In this study, autistic adults (n = 294) completed demographics (sex, age, and ethnicity), the Autism Spectrum Quotient, the Camouflaging Autistic Traits-Questionnaire, the Self-Compassion Scale, the General- ized Anxiety Disorder-7 Scale, the Patient Health Questionnaire-9 and the Liebowitz Social Anxiety Scale. Results: We found a negative correlation between social camouflaging and self-compassion (rpartial = -0.483, p < 0.001). Serial mediation analyses revealed that camouflaging and self-compassion may indirectly influence the association between autistic traits and mental health outcomes both independently and through each other. Conclusions: The findings of this research provide greater insight into the mental health experiences of autistic adults and can inform the development of tailored interventions that target camouflaging and self-compassion
Does daily consumption of vitamin K1 from cruciferous vegetables reach the circulation and the knee joint?
Irish Section Meeting, 20–22 June 2018, Targeted approaches to tackling current nutritional issue
Transgenic Tmc2 expression preserves inner ear hair cells and vestibular function in mice lacking Tmc1
Constraining the Nature of the 18 min Periodic Radio Transient GLEAM-X J162759.5-523504.3 via Multiwavelength Observations and Magneto-thermal Simulations
We observed the periodic radio transient GLEAM-X J162759.5-523504.3 (GLEAM-X J1627) using the Chandra X-ray Observatory for about 30 ks on 2022 January 22–23, simultaneously with radio observations from the Murchison Widefield Array, MeerKAT, and the Australia Telescope Compact Array. Its radio emission and 18 min periodicity led the source to be tentatively interpreted as an extreme magnetar or a peculiar highly magnetic white dwarf. The source was not detected in the 0.3–8 keV energy range with a 3σ upper limit on the count rate of 3 × 10−4 counts s−1. No radio emission was detected during our X-ray observations either. Furthermore, we studied the field around GLEAM-X J1627 using archival European Southern Observatory and DECam Plane Survey data, as well as recent Southern African Large Telescope observations. Many sources are present close to the position of GLEAM-X J1627, but only two within the 2'' radio position uncertainty. Depending on the assumed spectral distribution, the upper limits converted to an X-ray luminosity of LX < 6.5 × 1029 erg s−1 for a blackbody with temperature kT = 0.3 keV, or LX < 9 × 1029 erg s−1 for a power law with photon index Γ = 2 (assuming a 1.3 kpc distance). Furthermore, we performed magneto-thermal simulations for neutron stars considering crust- and core-dominated field configurations. Based on our multiband limits, we conclude that (i) in the magnetar scenario, the X-ray upper limits suggest that GLEAM-X J1627 should be older than ∼1 Myr, unless it has a core-dominated magnetic field or has experienced fast cooling; (ii) in the white dwarf scenario, we can rule out most binary systems, a hot sub-dwarf, and a hot magnetic isolated white dwarf (T ≳ 10.000 K), while a cold isolated white dwarf is still compatible with our limits.N.R., F.C.Z., C.D., M.R., V.G., C.P., A.B., and E.P. are supported by the ERC Consolidator Grant "MAGNESIA" under grant agreement No. 817661, and National Spanish grant No. PGC2018-095512-BI00. F.C.Z., A.B., and V.G. are also supported by Juan de la Cierva Fellowships. C.D., M.R., and C.A.'s work has been carried out within the framework of the doctoral program in Physics of the Universitat Autónoma de Barcelona. N.H.W. is supported by an Australian Research Council Future Fellowship (project number FT190100231) funded by the Australian Government. D.d.M. acknowledges financial support from the Italian Space Agency (ASI) and National Institute for Astrophysics (INAF) under agreements ASI-INAF I/037/12/0 and ASI-INAF n.2017-14-H.0 and from INAF "Sostegno alla ricerca scientifica main streams dell'INAF," Presidential Decree 43/2018 and from INAF "SKA/CTA projects," Presidential Decree 70/2016. D.B. acknowledges support from the South African National Research Foundation. D.V. is supported by the ERC Starting Grant "IMAGINE" under grant agreement No. 948582. This work was also partially supported by the program Unidad de Excelencia Maria de Maetzu de Maeztu CEX2020-001058-M and by the PHAROS COST Action (grant No. CA16214)
Outcome Assessment of a Dedicated HIV Positive Health Care Worker Clinic at a Central Hospital in Malawi: A Retrospective Observational Study
BACKGROUND: Malawi has one of the world's lowest densities of Health Care Workers (HCW) per capita. This study evaluates outcomes of a dedicated HCW HIV clinic in Malawi, created at Zomba Central Hospital in January 2007. METHODS AND FINDINGS: Retrospective cohort data was analyzed comparing HCW clinic patient baseline characteristics and treatment outcomes at 18 months after inception, against those attending the general HIV clinic. In-depth interviews and focus group discussions were conducted to explore perceptions of patients and caregivers regarding program value, level of awareness and barriers for uptake amongst HCW. 306 patients were enrolled on antiretroviral therapy (ART) in the HCW HIV clinic, 6784 in the general clinic. Significantly (p<0.01) more HCW clients were initiated on ART on the basis of CD4 as opposed to WHO Stage 3/4 (36% vs.23%). Significantly fewer HCW clients defaulted (6% vs.17%), and died (4% vs.12%). The dedicated HCW HIV clinic was perceived as important and convenient in terms of reduced waiting times, and prompt and high quality care. Improved confidentiality was an appreciated quality of the HCW clinic however barriers included fear of being recognized. CONCLUSIONS/SIGNIFICANCE: Outcomes at the HCW clinic appear better compared to the general HIV clinic. The strategy of dedicated clinics to care for health providers is a means of HIV impact mitigation within human resource constrained health systems in high prevalence settings
Phenotype and genetic analysis of data collected within the first year of NeuroDev
Genetic association studies have made significant contributions to our understanding of the etiology of neurodevelopmental disorders (NDDs). However, these studies rarely focused on the African continent. The NeuroDev Project aims to address this diversity gap through detailed phenotypic and genetic characterization of children with NDDs from Kenya and South Africa. We present results from NeuroDev’s first year of data collection, including phenotype data from 206 cases and clinical genetic analyses of 99 parent-child trios. Most cases met criteria for global developmental delay/intellectual disability (GDD/ID, 80.3%). Approximately half of the children with GDD/ID also met criteria for autism. Analysis of exome-sequencing data identified a pathogenic or likely pathogenic variant in 13 (17%) of the 75 cases from South Africa and 9 (38%) of the 24 cases from Kenya. Data from the trio pilot are publicly available, and the NeuroDev Project will continue to develop resources for the global genetics community
Soluble guanylate cyclase signalling mediates etoposide resistance in progressing small cell lung cancer
From Springer Nature via Jisc Publications RouterHistory: received 2020-12-10, accepted 2021-10-19, registration 2021-10-26, pub-electronic 2021-11-17, online 2021-11-17, collection 2021-12Publication status: PublishedFunder: CRUK Manchester Institute (grant no. A27412) CRUK Manchester Centre (grant no. A25254) CRUK Manchester Experimental Cancer Medicines Centre (grant no. A20465) CRUK Lung Cancer Centre of Excellence (grant no. A25146) NIHR Manchester Biomedical Research CentreAbstract: Small cell lung cancer (SCLC) has a 5-year survival rate of <7%. Rapid emergence of acquired resistance to standard platinum-etoposide chemotherapy is common and improved therapies are required for this recalcitrant tumour. We exploit six paired pre-treatment and post-chemotherapy circulating tumour cell patient-derived explant (CDX) models from donors with extensive stage SCLC to investigate changes at disease progression after chemotherapy. Soluble guanylate cyclase (sGC) is recurrently upregulated in post-chemotherapy progression CDX models, which correlates with acquired chemoresistance. Expression and activation of sGC is regulated by Notch and nitric oxide (NO) signalling with downstream activation of protein kinase G. Genetic targeting of sGC or pharmacological inhibition of NO synthase re-sensitizes a chemoresistant CDX progression model in vivo, revealing this pathway as a mediator of chemoresistance and potential vulnerability of relapsed SCLC
High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple cafe-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P<0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients
Safety, immunogenicity, and reactogenicity of BNT162b2 and mRNA-1273 COVID-19 vaccines given as fourth-dose boosters following two doses of ChAdOx1 nCoV-19 or BNT162b2 and a third dose of BNT162b2 (COV-BOOST): a multicentre, blinded, phase 2, randomised trial
Gene Therapy Restores Auditory and Vestibular Function in a Mouse Model of Usher Syndrome Type 1c
Because there are currently no biological treatments for deafness, we sought to advance gene therapy approaches to treat genetic deafness. We reasoned that gene delivery systems that target auditory and vestibular sensory cells with high efficiency would be required to restore complex auditory and balance function. We focused on Usher Syndrome, a devastating genetic disorder that causes blindness, balance disorders and profound deafness, and used a knock-in mouse model, Ush1c c.216G>A, which carries a cryptic splice site mutation found in French-Acadian patients with Usher Syndrome type IC (USH1C). Following delivery of wild-type Ush1c into the inner ears of neonatal Ush1c c.216G>A mice, we find recovery of gene and protein expression, restoration of sensory cell function, rescue of complex auditory function and recovery of hearing and balance behavior to near wild-type levels. The data represent unprecedented recovery of inner ear function and suggest that biological therapies to treat deafness may be suitable for translation to humans with genetic inner ear disorders
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