Sarah Berli

Dr. Sarah Berli

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Research Focus & Metrics

Academic Career Length

6Years (2021-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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13 April 2021 in Journal of Neurology
Verified
Journal Article
Open access
PDF file
SBSarah Berli
Sarah Berli
GBGiovanna Brandi
Giovanna Brandi
KEKeller Emanuela
Keller Emanuela
NNNajia Nadi
Najia Nadi
VJVitale Josè
Vitale Josè
PAPagnamenta Alberto
Pagnamenta Alberto
In patients with late-onset Pompe disease (LOPD), the efficacy of the enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase (rhGAA) is difficult to evaluate, due to the clinical heterogeneity and the small sample sizes in published studies. Therefore, we conduct a systematic literature review and meta-analysis of the literature to evaluate the efficacy of ERT in LOPD patients considering the walking distance, respiratory function and muscle strength. Particularly, six-minute walk test (6MWT), forced vital capacity (FVC), medical research council (MRC) grading, quantitative muscle testing (QMT), and quick motor function test (QMFT) were outcomes of interest. Overall, 619 studies were identified in PubMed, EMBASE and by manual search on July 18th, 2020. After an initial assessment, 16 studies were included in the meta-analysis, containing clinical data from 589 patients with LOPD. For the 6MWT, 419 patients were analyzed. Walking distance improved on average, 32.2 m greater during the observed period (p = 0.0003), compared to the distance at the baseline. The meta-analysis did not show any improvement in FVC and only a tendency towards better muscle strength after treatment with ERT, but the difference was not statistically significant. In conclusion, the available data showed that ERT has a significant beneficial efficacy in the improvement of walking distance in LOPD patients and a non-significant improvement of muscle strength. No improvement in respiratory capacity was found. More prospective and controlled trials are needed to demonstrate a clear clinical benefit of ERT.

Verified
Journal Article
Open access
PDF file
SBSarah Berli
Sarah Berli
MBMassimo Barbagallo
Massimo Barbagallo
EKEmanuela Keller
Emanuela Keller
Giuseppe EspositoGiuseppe Esposito
Giuseppe Esposito
APAlberto Pagnamenta
Alberto Pagnamenta
GBGiovanna Brandi
Giovanna Brandi
Background/Objective: Sex-related differences among patients with aneurysmal subarachnoid hemorrhage (aSAH) and their potential clinical implications have been insufficiently investigated. To address this knowledge gap, we conduct a comprehensive systematic review and meta-analysis. Methods: Sex-specific differences in patients with aSAH, including mortality, delayed cerebral ischemia (DCI), and functional outcomes were assessed. The functional outcome was dichotomized into favorable or unfavorable based on the modified Rankin Scale (mRS), Glasgow Outcome Scale (GOS), and Glasgow Outcome Scale Extended (GOSE). Results: Overall, 2823 studies were identified in EMBASE, MEDLINE, PubMed, and by manual search on 14 February 2024. After an initial assessment, 74 studies were included in the meta-analysis. In the analysis of mortality, including 18,534 aSAH patients, no statistically significant differences could be detected (risk ratio (RR) 0.99; 95% CI, 0.90–1.09; p = 0.91). In contrast, the risk analysis for DCI, including 23,864 aSAH patients, showed an 11% relative risk reduction in DCI in males versus females (RR, 0.89; 95% CI, 0.81–0.97; p = 0.01). The functional outcome analysis (favorable vs. unfavorable), including 7739 aSAH patients, showed a tendency towards better functional outcomes in men than women; however, this did not reach statistical significance (RR, 1.02; 95% CI, 0.98–1.07; p = 0.34). Conclusions: In conclusion, the available data suggest that sex/gender may play a significant role in the risk of DCI in patients with aSAH, emphasizing the need for sex-specific management strategies.

19 August 2026 in Preprints.org
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Preprint
Open access
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SBSarah Berli
Sarah Berli
MKMara Kaiser
Mara Kaiser
ESEmery Schindler
Emery Schindler
Dimitrios A. TsakirisDimitrios A. Tsakiris
Dimitrios A. Tsakiris
Blood donation sustains an estimated 118 million annual donations worldwide, and while advances in infectious disease screening have greatly reduced recipient risk, the long-term health of repeat donors has received comparatively less attention. This cumulative narrative review synthesises current evidence on the principal acquired complications of regular blood donation across all modalities — whole blood, plasmapheresis, and plateletpheresis — addressing iron deficiency, plasma protein depletion, apheresis-related lymphopenia, clonal haematopoiesis of indeterminate potential (CHIP), and micronutrient deficiency. Iron deficiency affects 15–36% of frequent whole blood donors and is systematically underdetected by haemoglobin-based screening alone; ferritin-guided interval adjustment and oral supplementation are effective countermeasures. Regular plasmapheresis depletes immunoglobulins (IgG below normal in 5–15% of high-frequency donors), albumin, and coagulation factors, compounded by cumulative citrate-mediated hypocalcaemia. Plateletpheresis causes measurable subset-selective T-cell and NK-cell depletion, with CD4⁺ counts below clinically significant thresholds in a minority of the most frequent donors and attenuated vaccine responses documented in affected individuals. Emerging molecular data indicate that repeated haematopoietic stress selectively enriches low-risk, EPO-responsive DNMT3A clonal variants without increasing malignant risk. Regular blood donation if properly applied is a safe process. Across all domains, current eligibility criteria based on haemoglobin alone turn out to be inadequate; a shift to multiparameter, individualised and targeted donor monitoring — integrating ferritin, serum proteins, differential leucocyte counts, and micronutrient profiling — is both evidence-based and ethically imperative to sustain the long-term health of voluntary donor populations.

4 September 2026 in Journal of Clinical Medicine
Verified
Journal Article
Open access
PDF file
SBSarah Berli
Sarah Berli
MKMara Sofie Kaiser
Mara Sofie Kaiser
ESEmery Schindler
Emery Schindler
Dimitrios A. TsakirisDimitrios A. Tsakiris
Dimitrios A. Tsakiris
Blood donation sustains an estimated 118 million annual donations worldwide, and while advances in infectious disease screening have greatly reduced recipient risk, the long-term health of repeat donors has received comparatively less attention. This cumulative review synthesises current evidence on the principal acquired complications of regular blood donation across all modalities—whole blood, plasmapheresis, and plateletpheresis—addressing iron deficiency, plasma protein depletion, apheresis-related lymphopenia, clonal haematopoiesis of indeterminate potential (CHIP), and micronutrient deficiency. Iron deficiency affects 15–36% of frequent whole blood donors and is systematically underdetected by haemoglobin-based screening alone; ferritin-guided interval adjustment and oral supplementation are effective countermeasures. Regular plasmapheresis depletes immunoglobulins (IgG below normal in 5–15% of high-frequency donors), albumin, and coagulation factors, compounded by cumulative citrate-mediated hypocalcaemia. Plateletpheresis causes measurable subset-selective T-cell and NK-cell depletion, with CD4+ counts below clinically significant thresholds in a minority of the most frequent donors, an observation of unknown significance. Emerging molecular data indicate that repeated haematopoietic stress selectively enriches low-risk, EPO-responsive DNMT3A clonal variants without increasing malignant risk. Regular blood donation if properly applied is a safe process. Across all domains, current eligibility criteria based on haemoglobin alone turn out to be inadequate; a shift to multiparameter, individualised and targeted donor monitoring—integrating ferritin, serum proteins, differential leucocyte counts, and micronutrient profiling—is both evidence-suggested and ethically worth considering to sustain the long-term health of voluntary donor populations.