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  1. Flesia L, Adeeb M, Waseem A, Helmy M, Monaro M
    Eur J Investig Health Psychol Educ, 2023 Jan 03;13(1):67-80.
    PMID: 36661755 DOI: 10.3390/ejihpe13010005
    The COVID-19 outbreak and the worldwide lockdown measures had an impact on the global mental health and psychological well-being of the general population. Several studies attempted to investigate the protective and risk factors for psychological distress related to the pandemic. However, to date, little is known about the role of hope in this context. The aim of this study was to determine the relationship between hope and psychological distress related to the COVID-19 outbreak in the general population. The sample consisted of 504 Pakistani people who completed cross-sectionally the COVID-19 Peritraumatic Distress Index (CPDI) and the Adult Hope Scale (AHS). Bivariate Pearson correlation analysis was run to measure the relationship between hope and psychological distress; hierarchical regression analysis was run to investigate the association between demographics and hope with psychological distress. Higher levels of hope predicted lower levels of psychological distress. Being female, being older, lower level of education, urban residence, being married and living in nuclear family systems were associated with higher levels of psychological distress. The study highlights the protective role of hope on psychological distress related to COVID-19, contributing to knowledge on factors promoting positive mental health during emergency times and providing useful information for implementing effective public health policies and programmes.
  2. Alfattal R, Alfarhan M, Algaith AM, Albash B, Elshafie RM, Alshammari A, et al.
    Am J Med Genet A, 2023 May;191(5):1401-1411.
    PMID: 36757047 DOI: 10.1002/ajmg.a.63143
    Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron-sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 5-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and fatigue. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.
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