Browsing by Author "Diriks, Mikus"

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    The Beneficial Outcome of Subsequent Treatment with Anakinra during the Chronic Phase of Febrile Infection-Related Epilepsy Syndrome (FIRES) : A Case Report
    (2023-12) Cupane, Tina Luize; Strautmanis, Jurgis; Setlere, Signe; Diriks, Mikus; Auzenbaha, Madara
    This case report presents the clinical course of an eight-year-old boy diagnosed with febrile infection-related epilepsy syndrome (FIRES) at the age of four. Following a febrile infection, the patient experienced his initial episode of serial generalized clonic seizures. The severity of his condition led to 11 hospital admissions, totaling 157 days of hospitalization. Anakinra was initially administered during the acute phase in 2019 but was discontinued after 29 days. In 2022, the patient experienced a chronic-phase exacerbation and underwent a second course of anakinra treatment, which demonstrated a positive effect on seizure activity. With a year of anakinra therapy, the patient exhibited significant improvement in both seizure frequency and severity. This report adds to the existing evidence supporting the potential use of anakinra in the treatment of FIRES, highlighting its effectiveness during the chronic phase and suggesting the potential benefits of subsequent administration.
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    New-Born Screening for Spinal Muscular Atrophy : Results of a Latvian Pilot Study
    (2022-03) Gailite, Linda; Sterna, Olga; Konika, Maija; Isakovs, Aleksejs; Isakova, Jekaterina; Micule, Ieva; Setlere, Signe; Diriks, Mikus; Auzenbaha, Madara; Scientific Laboratory of Molecular Genetics
    New disease-modifying treatments have recently been approved for 5q spinal muscular atrophy (SMA) and early treatment has been associated with a better clinical outcome. Accordingly, new-born screening (NBS) for SMA should be implemented to ensure early diagnosis of affected individuals. The aim of this study was to determine the feasibility and usefulness of NBS for SMA in Latvia. Between February and November of 2021, 10,411 parents consented to participation in the study. DNA testing for the SMN1 exon 7 homozygous deletion was conducted using qPCR with fluorescent locked nucleic acid primers. In the first month of testing, reporting of results took up to a maximum of 17 days after samples arrived in the laboratory. However, following familiarisation with the procedure, the median report time was reduced to 11 days after birth. Forty cases required samples to be taken again due to poor quality of the isolated DNA transpiring from either the quality of the blood punch or manual mistakes during DNA isolation. The SMN1 exon 7 homozygous deletion was identified in two individuals, which was subsequently confirmed by multiplex ligation-dependent probe amplification. When a NBS sample is taken 48 to 72 h after birth and transported to the laboratory within two working days after collection according to legal requirements, DNA test results can be reported to healthcare professionals before the 12th day of life. Expansion of our SMA 5q NBS procedure to the whole of Latvia is feasible and would facilitate early diagnosis and result in more effective treatment. We strongly advocate that SMA is added to the national Latvia Recommended Uniform Screening Panel.
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    Newborn Screening for Spinal Muscular atrophy : first results of a Pilot Study in Latvia
    (2021) Kreile, Madara; Isakova, Jekaterina; Isakovs, Aleksejs; Konika, Maija; Mičule, Ieva; Diriks, Mikus; Gailīte, Linda; Scientific Laboratory of Molecular Genetics