ArticleAmerican journal of medical genetics. Part A2020
Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19: The experience of a TSC clinic in Italy.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 30 citations in OpenAlex.
- Safety and efficacy of COVID-19 vaccination in the Chinese population with pulmonary lymphangioleiomyomatosis: a single-center retrospective study.Orphanet journal of rare diseases · 2024Article
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- Acute Hypoxemic Respiratory Failure Due to COVID-19 in a Patient With Underlying Lymphangioleiomyomatosis.Cureus · 2022Article
- Friend or Foe? Implication of the autophagy-lysosome pathway in SARS-CoV-2 infection and COVID-19.International journal of biological sciences · 2022Review
- Stick or twist: Everolimus for seizures in tuberous sclerosis complex during the COVID-19 pandemic.Seizure · 2021Article
- A 34-Year-Old Woman from Brazil with Pulmonary Lymphangioleiomyomatosis Diagnosed by Raised Serum Vascular Endothelial Growth Factor-D (VEGF-D) Levels and Lung Cysts on Computed Tomography Imaging Presenting with COVID-19 Pneumonia.The American journal of case reports · 2021Article
- COVID-19 in patients with systemic lupus erythematosus: lessons learned from the inflammatory disease.Translational research : the journal of laboratory and clinical medicine · 2021Review
- Response to pegylated interferon in a COVID-19 positive male with metastatic jejunal neuroendocrine tumor treated with everolimus.Clinical case reports · 2021Article
- Epilepsy and COVID-19: Updated evidence and narrative review.Epilepsy & behavior : E&B · 2021Review
- COVID-19 in a patient with sporadic lymphangioleiomyomatosis awaiting lung transplantation.Respiratory medicine case reports · 2021Article
- COVID-19 and lymphangioleiomyomatosis: Experience at a reference center and the potential impact of the use of mTOR inhibitors.American journal of medical genetics. Part A · 2020Article
- Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19: The experience of a TSC clinic in Italy.American journal of medical genetics. Part A · 2020Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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