LitCovid-sentences  

PMC:7274950 / 1499-12104 JSONTXT 12 Projects

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Id Subject Object Predicate Lexical cue
T14 0-139 Sentence denotes Fabry disease (FD) is a progressive, X-linked inherited lysosomal storage disorder caused by mutations in the α-Galactosidase A gene (GLA).
T15 140-370 Sentence denotes Partial or complete deficiency of the enzyme α-Galactosidase A (α-Gal A) results in a progressive accumulation of lipids, primarily globotriaosylceramide (Gb3) and its deacylated derivative globotriaosylsphingosine (lyso-Gb3) [1].
T16 371-589 Sentence denotes Typical signs and symptoms in the early phase of the classic phenotype are acroparesthesia, episodes of diarrhea and abdominal pain, cornea verticillata, dyshidrosis, tinnitus, angiokeratomas, and microalbuminuria [1].
T17 590-735 Sentence denotes Severe organ manifestations become evident during the third decade of life in males and approximately the fourth decade of life in females [2,3].
T18 736-825 Sentence denotes Cardiac hypertrophy, renal dysfunction, and stroke are the most severe complications [4].
T19 826-985 Sentence denotes Two preparations of enzyme replacement therapy (ERT) -agalsidase alfa and agalsidase beta- with recombinant α-galactosidase was approved in Europe in 2001 [5].
T20 986-1081 Sentence denotes Agalsidase beta is the only ERT approved by the US Food and Drug Administration since 2003 [6].
T21 1082-1293 Sentence denotes Migalastat (Galafold®) was approved in Europe in May 2016, in Canada in September 2017, in Japan in March 2017 and in the USA in August 2018 for long-term treatment of FD in adults with an amenable mutation [7].
T22 1294-1482 Sentence denotes Even though pulmonary involvement is not widely appreciated by clinicians, an obstructive lung disease (specifically of the small airways) is another recognized component of Fabry disease.
T23 1483-1629 Sentence denotes The original patient described by Fabry in 1898 had “asthma” and frequent respiratory tract infections [8] and died at age 43 of lung disease [9].
T24 1630-1782 Sentence denotes Several reports describe signs and symptoms of pulmonary involvement such as dyspnea, wheezing, and dry cough in Fabry disease [[10], [11], [12], [13]].
T25 1783-1871 Sentence denotes Many of these signs and symptoms were described without simultaneous cardiac compromise.
T26 1872-1973 Sentence denotes Less frequent signs like haemoptysis, pneumothorax and pulmonary thromboembolism have been described.
T27 1974-2150 Sentence denotes Rosenberg et al. [11] reported on light and electron microscopic evaluation of cells recovered from alveolar lavage fluid and from brushing the airway epithelium in 3 patients.
T28 2151-2256 Sentence denotes In all of them, cytoplasmic inclusion bodies in ciliated epithelial cells and goblet cells were revealed.
T29 2257-2381 Sentence denotes Sputum induced exam showed lamellar inclusion bodies within all ciliated bronchial epithelial cells examined in one patient.
T30 2382-2503 Sentence denotes The same report examined sputum from five subjects without Fabry disease and were unable to find similar inclusions [14].
T31 2504-2765 Sentence denotes A histochemical study of a lung biopsy specimen from one patient revealed a marked increase of Gb3 that accounted for 10.7% of total lipids, and histopathologic examination revealed laminated inclusions in the capillary endothelium and type II pneumocytes [15].
T32 2766-2922 Sentence denotes Smith et al. [16] reported the histopathology and electron microscopy autopsy findings of the pulmonary vasculature in a 52 year-old man with Fabry disease.
T33 2923-3083 Sentence denotes Zebra bodies inclusions were found within the endothelial cells of capillaries, arterioles and veins and in the smooth muscle cells of small pulmonary arteries.
T34 3084-3251 Sentence denotes Zebra bodies with much thinner, delicate dense bands were also found in the lung parenchyma, either in the alveolar interstitium or within capillary endothelial cells.
T35 3252-3570 Sentence denotes The proposed mechanisms for the development of airway obstruction in Fabry disease include loss of lung elastic recoil, hyperreactivity (bronchospasm), airway inflammation and airway narrowing related to accumulation of glycosphingolipid and hyperplasia in airway epithelial and smooth muscle cells [[11], [12], [13]].
T36 3571-3682 Sentence denotes However, a putative mechanism involving airway hyperreactivity and bronchospasm was not supported in one study.
T37 3683-3783 Sentence denotes None of the patients subjected to methacholine challenge testing exhibited a positive response [11].
T38 3784-3888 Sentence denotes Brown et al. [10] studied pulmonary manifestations and pulmonary function test in 25 affected Fabry men.
T39 3889-4017 Sentence denotes Shortness of breath on mild to moderate exertion was reported by 36% of the subjects and cough and wheezing were present in 24%.
T40 4018-4150 Sentence denotes Nine patients (36%) had reduced FEV1/FVC ratio consistent with obstructive ventilatory impairment; four of the nine were nonsmokers.
T41 4151-4265 Sentence denotes Forced expiratory time to deliver the middle half of the FVC (FEF25 – 75) was elevated in eight of these patients.
T42 4266-4409 Sentence denotes The prevalence of obstructive impairment was strongly age-dependent, in parallel with the relationship found for extra-pulmonary symptoms [11].
T43 4410-4513 Sentence denotes Odler et al. [17] published the evaluation of 7 Fabry patients (40.2 ± 5.6 years) before and after ERT.
T44 4514-4608 Sentence denotes At baseline, all patients had respiratory symptoms; however, these symptoms were usually mild.
T45 4609-4830 Sentence denotes The most prominent lung function changes were registered in parameters reflecting small airway involvement, including significant decrease in FEF25 – 75, increase in residual volume (RV) and RV/ total lung capacity ratio.
T46 4831-5011 Sentence denotes Furthermore, a review by Franzen et al. [18] found that obstructive lung disease was up to 10 times more frequent in patients with Fabry disease compared to the general population.
T47 5012-5116 Sentence denotes The same author later reported the long-term follow-up of pulmonary function in 95 patients (41% males).
T48 5117-5213 Sentence denotes The overall prevalence of bronchial obstruction was 46%, and FEV1 decreased 29 ml per year [19].
T49 5214-5414 Sentence denotes In two small retrospective studies, ERT has been reported to stabilize or even ameliorate the burden of pulmonary involvement in Fabry disease, mainly bronchial obstruction and/or sleep apnea [20,21].
T50 5415-5557 Sentence denotes An interventional study of six patients receiving either ERT or placebo showed an increased exercise tolerance in patients receiving ERT [22].
T51 5558-5679 Sentence denotes Lung function parameter in five patients (2 males) on ERT were followed longitudinally for an average of five years [17].
T52 5680-5884 Sentence denotes In three patients, FVC and FEV1 increased during the treatment period, in one patient slight decrease of FVC and FEV1 were registered and in one patient a slight decrease in FVC, with an increase in FEV1.
T53 5885-5993 Sentence denotes Recently, Franzen et al. [23] reported the change in z-scores of FEV1 and FEV1/FVC over time in 53 patients.
T54 5994-6249 Sentence denotes In the same study, they investigated whether factors related to age, sex, tobacco, phenotype, residual α-gal activity, age at ERT initiation, Mainz Severity Score Index (MSSI) and lyso-Gb3 levels in plasma may affect change in FEV1 and FEV1/FVC over time.
T55 6250-6298 Sentence denotes Median spirometric follow-up time was 7.7 years.
T56 6299-6383 Sentence denotes When considering z-scores, 27 patients (51%) developed airflow limitation over time.
T57 6384-6587 Sentence denotes Factors including male sex, active tobacco or past history of smoking, cardiac involvement and increased patient age at ERT initiation were associated with faster FEV1 decline in the univariate analysis.
T58 6588-6705 Sentence denotes These results suggest that earlier ERT initiation may help to stabilize FEV1 decline and preserve pulmonary function.
T59 6706-6858 Sentence denotes Coronavirus Disease-19 (COVID-19), caused by the SARS-CoV-2 virus was characterized as a global pandemic by the World Health Organization in March 2020.
T60 6859-7014 Sentence denotes Rare diseases, like inborn errors of metabolism, were included in the group of conditions considered to have an extremely high risk of severe illness [24].
T61 7015-7148 Sentence denotes There are no reports describing Fabry patients affected with COVID-19 or practical recommendations related to ERT during this period.
T62 7149-7251 Sentence denotes Due to lack of data analogy to other inherited diseases is used for recommendations for Fabry disease.
T63 7252-7358 Sentence denotes Sechi et al. [25] recently reported their experience with 102 patients affected by the following diseases:
T64 7359-7440 Sentence denotes Gaucher, Pompe, Fabry, mucopolysaccharidosis, Niemann Pick type C and cystinosis.
T65 7441-7548 Sentence denotes At the beginning of the pandemic, 71 pt. (69.6%) were receiving ERT and 26 (25.5%) were on oral treatments.
T66 7549-7631 Sentence denotes No interruption or modification occurred for patients receiving only oral therapy.
T67 7632-7803 Sentence denotes All patients who were already on home-therapy continued their ERT infusions regularly, but 49% of patients receiving ERT in the hospital experienced treatment disruptions.
T68 7804-7890 Sentence denotes There is limited evidence regarding temporary discontinuation of ERT in Fabry disease.
T69 7891-7962 Sentence denotes Cabrera and Politei [26] reported one male who started agalsidase beta.
T70 7963-8050 Sentence denotes After two years of favorable response to ERT, the patient decided to suspend treatment.
T71 8051-8193 Sentence denotes Patient presented two years later with increasing pain, fatigue, progression of cardiac involvement and new white matter lesions in brain MRI.
T72 8194-8319 Sentence denotes Treatment discontinuation resulted in a fast deterioration of impaired organs and the appearance of new Fabry manifestations.
T73 8320-8484 Sentence denotes Effects of temporary ERT interruption were described in more detail in other lysosomal storage diseases like Gaucher disease type I and mucopolysaccharidoses (MPS).
T74 8485-8699 Sentence denotes Drelichman et al. [27] reported a group of Gaucher type I patients, that after 1 to 7 years of ERT, none had skeletal manifestations, organomegaly had decreased or disappeared and hematologic features had improved.
T75 8700-8962 Sentence denotes However, after 15 to 36 months of ERT interruption, splenomegaly recurred or worsened in all children, hepatomegaly and hematologic features recurred or worsened, serious bone manifestations developed in 4 children, and 3 children experienced growth retardation.
T76 8963-9053 Sentence denotes They concluded that skeletal manifestations did not resolve after treatment reinstatement.
T77 9054-9332 Sentence denotes In MPS, ERT interruption can lead to the loss of the beneficial effects and, in some circumstances, the abrupt withdrawal of ERT significantly worsened the clinical evolution of the patient, especially if the interruptions were for more than two months [[28], [29], [30], [31]].
T78 9334-9348 Sentence denotes 1 Conclusions
T79 9349-9613 Sentence denotes ERT has a beneficial clinical impact in Fabry disease, as it can relieve neuropathic pain and gastrointestinal symptoms, improve quality of life, reduce plasma lyso-Gb3 levels and clear Gb3 inclusions from renal cells, with a dose-dependent mechanism in podocytes.
T80 9614-9772 Sentence denotes Evidence, mainly derived from male studies, shows that patients may benefit from early treatment initiation, before major clinical organ damage has developed.
T81 9773-9900 Sentence denotes After ERT interruption, a recommencement of therapy does not fully reverse clinical decline resulting from the discontinuation.
T82 9901-10089 Sentence denotes Home-therapy seems to be the most efficient way to maintain therapy access during the COVID-19 pandemic when possible and correct use of personal protective equipment should be guaranteed.
T83 10090-10261 Sentence denotes If home-therapy is not available, safe locations and plans that separate COVID-19 and non-COVID-19 patients should be carefully prepared in hospitals and infusion centers.
T84 10263-10294 Sentence denotes Individual author contributions
T85 10295-10459 Sentence denotes Juan Politei is the only contributor to the concept/design of the manuscript, data acquisition, data analysis/interpretation and critically revising the manuscript.
T86 10461-10494 Sentence denotes Declaration of Competing Interest
T87 10495-10574 Sentence denotes Juan Politei has no conflicts of interest to declare related to this manuscript
T88 10575-10605 Sentence denotes No funding for this manuscript