Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Sampayo-Cordero, Miguel; Miguel-Huguet, Bernat; Pardo-Mateos, Almudena; Malfettone, Andrea; Peréz-García, José Manuel; Llombart-Cussac, Antonio; Cortés, Javier; Moltó-Abad, Marc; Muñoz-Delgado, Cecilia; Pérez-Quintana, Marta; Pérez‐López, Jordi

doi:10.1186/s13023-019-1202-6

Cited by 21 publications

(51 citation statements)

References 43 publications

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“…Another limitation was that results from case series and case-control studies were used for prevalence estimations. However, previous studies XXX have suggested and used case reports/ series in meta-analyses to facilitate the decision making process when the evidence was limited PLOS ONE or a relatively rare or neglected disease was assessed [54][55][56][57][58][59]. In addition, the most recently published meta-analysis of 44 case series reported the 25-year pooled survival of hip replacements [60].…”

Section: Limitationsmentioning

confidence: 99%

Severity and mortality of severe Plasmodium ovale infection: A systematic review and meta-analysis

Kotepui

Milanez

et al. 2020

PLoS ONE

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Plasmodium ovale can infect humans, causing malaria disease. We aimed to investigate the severity and mortality of severe P. ovale infection to increase the awareness of physicians regarding the prognosis of this severe disease and outcome-related deaths in countries in which this disease is endemic. Articles that were published in the PubMed, Scopus, and ISI Web of Science databases prior to January 5, 2020 and reported the prevalence of severe P. ovale infection were systematically searched and reviewed. Studies that mainly reported severe P. ovale infection according to the 2014 WHO criteria for the treatment of malaria were included. Two reviewers selected, identified, assessed, and extracted data from studies independently. The pooled prevalence of severe P. ovale mono-infections was estimated using the command "metaprop case population, random/fixed", which yielded the pooled estimate, 95% confidence interval (CI) and the I 2 value, indicating the level of heterogeneity. Meta-analyses of the proportions were performed using a random-effects model to explore the different proportions of severity between patients with P. ovale and those with other Plasmodium species infections. Among the eight studies that were included and had a total of 1,365 ovale malaria cases, the pooled prevalence of severe P. ovale was 0.03 (95% CI = 0.03-0.05%, I 2 = 54.4%). Jaundice (1.1%), severe anemia (0.88%), and pulmonary impairments (0.59%) were the most common severe complications found in patients infected with P. ovale. The meta-analysis demonstrated that a smaller proportion of patients with P. ovale than of patients with P. falciparum had severe infections (P-value = 0.01, OR = 0.36, 95% CI = 0.16-0.81, I 2 = 72%). The mortality rate of severe P. ovale infections was 0.15% (2/1,365 cases). Although severe complications of P. ovale infections in patients are rare, it is very important to increase the awareness of physicians regarding the prognosis of severe P. ovale infections in patients, especially in a high-risk population.

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Section: Limitationsmentioning

confidence: 99%

Severity and mortality of severe Plasmodium ovale infection: A systematic review and meta-analysis

Kotepui

Milanez

et al. 2020

PLoS ONE

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“…Due to the rarity of aceruloplasminemia, randomized controlled study designs are not feasible to explore clinical outcomes of iron chelation therapy. The value of aggregated case reports has recently been highlighted as an alternative means of systematically deriving evidence from the literature in rare diseases [11,12]. However, the rich source of information embedded in published case reports and case series has not yet been quantitatively investigated in such manner for aceruloplasminemia.…”

Section: Introductionmentioning

confidence: 99%

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Vroegindeweij

Wilson

Langendonk

2020

Orphanet J Rare Dis

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Background: Aceruloplasminemia is a rare genetic iron overload disorder, characterized by progressive neurological manifestations. The effects of iron chelation on neurological outcomes have only been described in case studies, and are inconsistent. Aggregated case reports were analyzed to help delineate the disease-modifying potential of treatment. Methods: Data on clinical manifestations, treatment and neurological outcomes of treatment were collected from three neurologically symptomatic Dutch patients, who received deferiprone with phlebotomy as a new therapeutic approach, and combined with other published cases. Neurological outcomes of treatment were compared between patients starting treatment when neurologically symptomatic and patients without neurological manifestations. Results: Therapeutic approaches for aceruloplasminemia have been described in 48 patients worldwide, including our three patients. Initiation of treatment in a presymptomatic stage of the disease delayed the estimated onset of neurological manifestations by 10 years (median age 61 years, SE 5.0 vs. median age 51 years, SE 0.6, p = 0.001). Although in 11/20 neurologically symptomatic patients neurological manifestations remained stable or improved during treatment, these patients were treated significantly shorter than patients who deteriorated neurologically (median 6 months vs. median 43 months, p = 0.016). Combined iron chelation therapy with deferiprone and phlebotomy for up to 34 months could be safely performed in our patients without symptomatic anemia (2/3), but did not prevent further neurological deterioration. Conclusions: Early initiation of iron chelation therapy seems to postpone the onset of neurological manifestations in aceruloplasminemia. Publication bias and significant differences in duration of treatment should be considered when interpreting reported treatment outcomes in neurologically symptomatic patients. Based on theoretical grounds and the observed long-term safety and tolerability in our study, we recommend iron chelation therapy with deferiprone in combination with phlebotomy for aceruloplasminemia patients without symptomatic anemia.

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“…Due to the rarity of this tumor, the knowledge is mainly based on case reports or case series resulting in limited statistical signi cance concerning epidemiology, demographics, clinical characteristics and treatment e cacy [1,3,9]. Nevertheless, case report meta-analyses might help improving the clinical practice in the context of rare diseases and provide more information to guide clinicians and surgeons to appropriate treatment [21]. Here we summarized case series and case reports concerning LGMS of the extremities in a quantitative manner.…”

Section: Discussionmentioning

confidence: 99%

Low-Grade Myofibroblastic Sarcoma (LGMS) of the Extremities – A Systematic Review and Case Report

Schenker¹,

Lehner²,

Gutjhar³

et al. 2020

Preprint

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Background: Low-grade myofibroblastic sarcoma (LGMS) is a rare subtype of soft tissue sarcoma of intermediate grade often representing fibromatosis-like features with a rare metastasing behavior. This type of tumor has a predilection for the head and neck region, but also occurs in the extremities. Confirming the diagnosis is difficult and treatment strategies have to be chosen individually.Methods: The objective of this study was to conduct a systematic review for LGMS of the extremities. The electronic databases PubMed and the Cochrane Library were searched for eligible studies. 141 abstracts were screened on PubMed, while 10 studies were identified as eligible. Cases were summarized in terms of clinical aspects, therapeutic regimen with the primary endpoint of follow-up controls regarding local recurrence or distant metastasis. In addition, we present the rare case and surgical management of a 28-year-old male patient with residual LGMS of the thumb after initial incomplete resection. Results: 33 cases of LGMS in the extremities were identified on PubMed. Cochrane library didn’t show any results. All of them were surgically resected. Only two cases of LGMS in the hand were described in literature so far. Treatment options varied from local excision to wide resection without exact definition of the safety distance. 26 cases provided follow-up information with local recurrence in 6 cases (23 %), while 4 cases (15 %) showed distant metastasis. Conclusions: Wide resection should be the surgical aim to avoid local recurrence and distant metastases. While the excision of tumors of the thumb and hand often require closer resection margins, due to the close proximity of anatomical structures, tumor-free margins are elementary even if tissue transfer from a donor site is needed for reconstruction.

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Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Cited by 21 publications

References 43 publications

Severity and mortality of severe Plasmodium ovale infection: A systematic review and meta-analysis

Severity and mortality of severe Plasmodium ovale infection: A systematic review and meta-analysis

Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports

Low-Grade Myofibroblastic Sarcoma (LGMS) of the Extremities – A Systematic Review and Case Report

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