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10.1002/ajmg.a.61810

http://scihub22266oqcxt.onion/10.1002/ajmg.a.61810
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32804431!7461282!32804431
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suck abstract from ncbi


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pmid32804431      Am+J+Med+Genet+A 2020 ; 182 (11): 2479-2485
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  • Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19: The experience of a TSC clinic in Italy #MMPMID32804431
  • Peron A; La Briola F; Bruschi F; Terraneo S; Vannicola C; Previtali R; Perazzoli S; Morenghi E; Bulfamante G; Vignoli A; Canevini MP
  • Am J Med Genet A 2020[Nov]; 182 (11): 2479-2485 PMID32804431show ga
  • Individuals with comorbidities are at higher risk of coronavirus disease 2019 (COVID-19) and worse outcome, but little information has been available about patients with genetic diseases and COVID-19. This study aims at evaluating the presence and outcome of COVID-19 in a cohort of Italian patients with tuberous sclerosis complex (TSC) and/or lymphangioleiomyomatosis (LAM), and at reviewing the possible effects of mTOR inhibitors on SARS-CoV-2 infection. We included 102 unselected individuals with a diagnosis of TSC and/or LAM assessed between January 1, 2020 and April 24, 2020 (29% children, 71% adults). Twenty-six patients were on mTOR inhibitors. Demographic data, TSC manifestations, presence, and outcomes in individuals with confirmed or suspected SARS-CoV-2 infection were evaluated. Health status and outcomes of all patients on mTOR inhibitors were assessed. One patient with severe TSC had polymerase chain reaction (PCR)-confirmed SARS-CoV-2 infection, was admitted to ICU, and died. Nine additional patients either met the definition of suspect case or presented with at least two of the most common symptoms of SARS-CoV-2 infection. All recovered fully. None of the patients treated with mTOR inhibitors for their underlying comorbidities was diagnosed with COVID-19, and those who showed suspicious respiratory symptoms recovered fully. This cohort study provides preliminary information on COVID-19 in people with TSC in Italy and suggests feasibility to systematically evaluate the role of mTOR inhibitors in SARS-CoV-2 infection.
  • |*Pandemics[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Aged[MESH]
  • |Betacoronavirus/genetics/*isolation & purification[MESH]
  • |COVID-19[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Cohort Studies[MESH]
  • |Comorbidity[MESH]
  • |Coronavirus Infections/*epidemiology/virology[MESH]
  • |Female[MESH]
  • |Hospitalization[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Italy/epidemiology[MESH]
  • |Lymphangioleiomyomatosis/*epidemiology[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Pneumonia, Viral/*epidemiology/virology[MESH]
  • |Retrospective Studies[MESH]
  • |SARS-CoV-2[MESH]
  • |Tuberous Sclerosis/*epidemiology[MESH]


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