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Related Concept Videos

Bioavailability Study Design: Healthy Subjects Versus Patients01:15

Bioavailability Study Design: Healthy Subjects Versus Patients

Bioavailability studies are essential for evaluating a drug's therapeutic efficacy and understanding its absorption patterns under various physiological conditions. Conducting such studies on target patient populations provides more relevant data by simulating real-world disease states. However, practical challenges often necessitate the use of young, healthy adult volunteers as study subjects.Patients may exhibit altered drug absorption patterns due to the effects of the disease itself,...
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Bioavailability Study Design: Single Versus Multiple Dose Studies

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Acute Coronary Syndrome III: Diagnostic Studies

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SURF1 deficiency: a multi-centre natural history study.

Yehani Wedatilake, Ruth M Brown, Robert McFarland

    Orphanet Journal of Rare Diseases
    |July 9, 2013
    PubMed
    Summary

    SURF1 deficiency causes Leigh syndrome (LS) and presents with consistent symptoms like poor weight gain and developmental delay. Early diagnosis is crucial for intervention and prenatal testing in these mitochondrial disorder patients.

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    Area of Science:

    • Mitochondrial Medicine
    • Genetics
    • Pediatric Neurology

    Background:

    • SURF1 deficiency is the leading genetic cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS).
    • This study presents the first natural history data for SURF1 deficiency.

    Purpose of the Study:

    • To characterize the clinical presentation and survival of patients with SURF1 deficiency.
    • To compare the survival of SURF1-deficient patients with other forms of LS.

    Main Methods:

    • A multi-center case notes review of 44 SURF1-deficient patients across UK and Australian centers.
    • Kaplan-Meier survival analysis and logrank test were used for comparisons with LRPPRC-deficient LS and nuclear-encoded complex I-deficient LS.

    Main Results:

    • Most patients (73%) presented in infancy with symptoms including poor weight gain (95%), hypotonia (93%), and developmental delay (88%).
    • Central respiratory failure (78%) and movement disorders (52%) were common, while cardiomyopathy was rare (2%).
    • The median age for central respiratory failure was 31 months.

    Conclusions:

    • SURF1-deficient patients exhibit a uniform clinical and biochemical phenotype.
    • Prompt recognition and diagnosis are vital for timely intervention and prenatal diagnosis.