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- Ortigoza-Escobar, Juan Darío, et al.
(författare)
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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
- 2016
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Ingår i: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 139:Pt 1, s. 31-8
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Tidskriftsartikel (refereegranskat)abstract
- Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.
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| 2. |
- Peng, Kangning, et al.
(författare)
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Global impacts of COVID-19 pandemic on sexual and reproductive health services : An international comparative study on primary care from the INTRePID Consortium
- 2024
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Ingår i: British Journal of Obstetrics and Gynecology. - : John Wiley & Sons. - 1470-0328 .- 1471-0528. ; 131:4, s. 508-517
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To understand how the COVID-19 pandemic has impacted sexual and reproductive health (SRH) visits.Design: An ecological study comparing SRH services volume in different countries before and after the onset of the COVID-19 pandemic.Setting: Seven countries from the INTernational ConsoRtium of Primary Care BIg Data Researchers (INTRePID) across four continents.Population: Over 3.8 million SRH visits to primary care physicians in Australia, China, Canada, Norway, Singapore, Sweden and the USA.Methods: Difference in average SRH monthly visits before and during the pandemic, with negative binomial regression modelling to compare predicted and observed number of visits during the pandemic for SRH visits.Main outcome measures: Monthly number of visits to primary care physicians from 2018 to 2021.Results: During the pandemic, the average volume of monthly SRH visits increased in Canada (15.6%, 99% CI 8.1-23.0%) where virtual care was pronounced. China, Singapore, Sweden and the USA experienced a decline (-56.5%, 99% CI -74.5 to -38.5%; -22.7%, 99% CI -38.8 to -6.5%; -19.4%, 99% CI -28.3 to -10.6%; and -22.7%, 99% CI -38.8 to -6.5%, respectively); while Australia and Norway showed insignificant changes (6.5%, 99% CI -0.7 to -13.8% and 1.7%, 99% CI -6.4 to -9.8%). The countries that maintained (Australia, Norway) or surpassed (Canada) pre-pandemic visit rates had the greatest use of virtual care.Conclusions: In-person SRH visits to primary care decreased during the pandemic. Virtual care seemed to counterbalance that decline. Although cervical cancer screening appeared insensitive to virtual care, strategies such as incorporating self-collected samples for HPV testing may provide a solution in a future pandemic.
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| 3. |
- Silva-Valencia, Javier, et al.
(författare)
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Effect of the COVID-19 pandemic on mental health visits in primary care : an interrupted time series analysis from nine INTRePID countries
- 2024
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Ingår i: eClinicalMedicine. - : Elsevier. - 2589-5370. ; 70
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Tidskriftsartikel (refereegranskat)abstract
- Background: The COVID-19 pandemic impacted mental health disorders, affecting both individuals with pre-existing conditions and those with no prior history. However, there is limited evidence regarding the pandemic ' s impact on mental health visits to primary care physicians. The International Consortium of Primary Care Big Data Researchers (INTRePID) explored primary care visit trends related to mental health conditions in Argentina, Australia, Canada, China, Norway, Peru, Singapore, Sweden, and the USA.Methods: We conducted an interrupted time series analysis in nine countries to examine changes in rates of monthly mental health visits to primary care settings from January 1st, 2018, to December 31st, 2021. Sub -group analysis considered service type (in-person/virtual) and six categories of mental health conditions (anxiety/depression, bipolar/ schizophrenia/other psychotic disorders, sleep disorders, dementia, ADHD/eating disorders, and substance use disorder).Findings: Mental health visit rates increased after the onset of the pandemic in most countries. In Argentina, Canada, China, Norway, Peru, and Singapore, this increase was immediate ranged from an incidence rate ratio of 1·118 [95% CI 1.053 - 1.187] to 2.240 [95% CI 2.057 - 2.439] when comparing the fi rst month of pandemic with the pre-pandemic trend. Increases in the following months varied across countries. Anxiety/depression was the leading reason for mental health visits in most countries. Virtual visits were reported in Australia, Canada, Norway, Peru, Sweden, and the USA, accounting for up to 40% of the total mental health visits.Interpretation: Findings suggest an overall increase in mental health visits, driven largely by anxiety/depression. During the COVID-19 pandemic, many of the studied countries adopted virtual care in particular for mental health visits. Primary care plays a crucial role in addressing mental ill-health in times of crisis.
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| 4. |
- Westfall, John M., et al.
(författare)
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Changes in primary care visits for respiratory illness during the COVID-19 pandemic : a multinational study by the International Consortium of Primary Care Big Data Researchers (INTRePID)
- 2024
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Ingår i: Frontiers in Medicine. - : Frontiers Media S.A.. - 2296-858X. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Objectives The majority of patients with respiratory illness are seen in primary care settings. Given COVID-19 is predominantly a respiratory illness, the INTernational ConsoRtium of Primary Care BIg Data Researchers (INTRePID), assessed the pandemic impact on primary care visits for respiratory illnesses.Design Definitions for respiratory illness types were agreed on collectively. Monthly visit counts with diagnosis were shared centrally for analysis.Setting Primary care settings in Argentina, Australia, Canada, China, Norway, Peru, Singapore, Sweden and the United States.Participants Over 38 million patients seen in primary care settings in INTRePID countries before and during the pandemic, from January 1st, 2018, to December 31st, 2021.Main outcome measures Relative change in the monthly mean number of visits before and after the onset of the pandemic for acute infectious respiratory disease visits including influenza, upper and lower respiratory tract infections and chronic respiratory disease visits including asthma, chronic obstructive pulmonary disease, respiratory allergies, and other respiratory diseases.Results INTRePID countries reported a marked decrease in the average monthly visits for respiratory illness. Changes in visits varied from -10.9% [95% confidence interval (CI): -33.1 to +11.3%] in Norway to -79.9% (95% CI: -86.4% to -73.4%) in China for acute infectious respiratory disease visits and - 2.1% (95% CI: -12.1 to +7.8%) in Peru to -59.9% (95% CI: -68.6% to -51.3%) in China for chronic respiratory illness visits. While seasonal variation in allergic respiratory illness continued during the pandemic, there was essentially no spike in influenza illness during the first 2 years of the pandemic.Conclusion The COVID-19 pandemic had a major impact on primary care visits for respiratory presentations. Primary care continued to provide services for respiratory illness, although there was a decrease in infectious illness during the COVID pandemic. Understanding the role of primary care may provide valuable information for COVID-19 recovery efforts and planning for future global emergencies.
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