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Attention Score in Context
| Title |
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, December 2014
|
| DOI | 10.1186/s13023-014-0217-2 |
| Pubmed ID | |
| Authors |
Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin, Aida Ormazabal, Mercè Pineda, María T García-Silva, Rafael Artuch |
| Abstract |
BackgroundKearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of KSS patients. Our aim was to assess the clinical and neuroimaging outcomes of KSS patients receiving folinic acid therapy.Methods Patients: We recruited eight patients with diagnoses of KSS. Four cases were treated at 12 de Octubre Hospital, and the other two cases were treated at Sant Joan de Déu Hospital. Two patients refused to participate in the treatment protocol. Methods: Clinical, biochemical and neuroimaging data (magnetic resonance imaging or computed tomography scan) were collected in baseline conditions and at different time points after the initiation of therapy. Cerebrospinal fluid 5-methyltetrahydrofolate levels were analysed with HPLC and fluorescence detection. Large-scale mitochondrial DNA deletions were analysed by Southern blot. Treatment protocol: The follow-up periods ranged from one to eight years. Cases 1¿4 received oral folinic acid at a dose of 1 mg/kg/day, and cases 6 and 8 received 3 mg/kg/day.ResultsNo adverse effects of folinic acid treatment were observed. Cerebral 5-methyltetrahydrofolate deficiencies were observed in all cases in the baseline conditions. Moreover, all three patients who accepted lumbar puncture after folinic acid therapy exhibited complete recoveries of their decreased basal cerebrospinal fluid 5-methyltetrahydrofolate levels to normal values. Two cases neurologically improved after folinic therapy. Disease worsened in the other patients.Post-treatment neuroimaging was performed for the 6 cases that received folinic acid therapy. One patient exhibited improvements in white matter abnormalities. The remaining patients displayed progressions in subcortical cerebral white matter, the cerebellum and cerebral atrophy.ConclusionsFour patients exhibited clinical and radiological progression of the disease following folinic acid treatment. Only one patient who was treated in an early stage of the disease exhibited both neurological and radiological improvements following elevated doses of folinic acid, and an additional patient experienced neurological improvement. Early treatment with high-dose folinic acid therapy seems to be advisable for the treatment of KSS.Trial registrationEudracT2007-00-6748-23. |
Mendeley readers
The data shown below were compiled from readership statistics for 60 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 60 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 17% |
| Student > Ph. D. Student | 8 | 13% |
| Student > Doctoral Student | 6 | 10% |
| Student > Postgraduate | 5 | 8% |
| Student > Master | 5 | 8% |
| Other | 12 | 20% |
| Unknown | 14 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 22 | 37% |
| Biochemistry, Genetics and Molecular Biology | 7 | 12% |
| Neuroscience | 5 | 8% |
| Agricultural and Biological Sciences | 4 | 7% |
| Nursing and Health Professions | 1 | 2% |
| Other | 4 | 7% |
| Unknown | 17 | 28% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 January 2020.
All research outputs
#7,209,728
of 22,788,370 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,043
of 2,615 outputs
Outputs of similar age
#100,314
of 353,068 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 91 outputs
Altmetric has tracked 22,788,370 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 2,615 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has gotten more attention than average, scoring higher than 59% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 353,068 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 91 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 65% of its contemporaries.