57 research outputs found

    Self-compassion, camouflaging, and mental health in autistic adults

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    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

    Outcome Assessment of a Dedicated HIV Positive Health Care Worker Clinic at a Central Hospital in Malawi: A Retrospective Observational Study

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    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

    High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

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    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

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    Gene Therapy Restores Auditory and Vestibular Function in a Mouse Model of Usher Syndrome Type 1c

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    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

    Effect of cytomegalovirus infection on breastfeeding transmission of HIV and on the health of infants born to HIV-infected mothers

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    Cytomegalovirus (CMV) infection can be acquired in utero or postnatally through horizontal transmission and breastfeeding. The effect of postnatal CMV infection on postnatal HIV transmission is unknown

    Evaluating Nurses' Implementation of an Infant-Feeding Counseling Protocol for HIV-Infected Mothers: The Ban Study in Lilongwe, Malawi

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    A process evaluation of nurses’ implementation of an infant-feeding counseling protocol was conducted for the Breastfeeding, Antiretroviral and Nutrition (BAN) Study, a prevention of mother-to-child transmission of HIV clinical trial in Lilongwe, Malawi. Six trained nurses counseled HIV-infected mothers to exclusively breastfeed for 24 weeks postpartum and to stop breastfeeding within an additional four weeks. Implementation data were collected via direct observations of 123 infant feeding counseling sessions (30 antenatal and 93 postnatal) and interviews with each nurse. Analysis included calculating a percent adherence to checklists and conducting a content analysis for the observation and interview data. Nurses were implementing the protocol at an average adherence level of 90% or above. Although not detailed in the protocol, nurses appropriately counseled mothers on their actual or intended formula milk usage after weaning. Results indicate that nurses implemented the protocol as designed. Results will help to interpret the BAN Study’s outcomes

    Adherence to extended postpartum antiretrovirals is associated with decreased breast milk HIV-1 transmission

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    Estimate association between postpartum antiretroviral adherence and breastmilk HIV-1 transmissio
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