Browsing by Author "Auzenbaha, Madara"

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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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    Dentalni status i parodontološko zdravlje pacijenata s fenilketonurijom u Latviji
    (2022-06) Abola, Iveta; Emulina, Darta Elizabete; Skadins, Ingus; Brinkmane, Anda; Gailite, Linda; Auzenbaha, Madara; Scientific Laboratory of Molecular Genetics; Department of Conservative Dentistry and Oral Health; Department of Biology and Microbiology
    Objectives: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism resulting from a deficiency of phenylalanine hydroxylase. The aim of this study was to evaluate the dental status and periodontal health of PKU patients in Latvia. Material and Methods: Fortyfive PKU patients and age/sex-matched controls were recruited for this cross-sectional study. Their anamnestic data, periodontal health and dental status were assessed by one experienced dentist. Results: Dental and periodontal clinical evaluation revealed that the median number of filled teeth was significantly smaller among PKU patients compared to the control group (p=0.021). PKU patients had a significantly larger median number of carious teeth than their healthy counterparts (p<0.001). Significant differences between the PKU and control groups were observed for several oral hygiene indices (p<0.001): Silness-Löe plaque index, OR=29.3 (95% CI: 3.7–232.4); CPITN index, OR=35.2 (95% CI: 4.5–278.3); Greene-Vermillion index, OR=10.2 (95% CI: 2.8–38.0); calculus removal necessity, OR=12.3 (95% CI: 3.3–45.4). Conclusion: Dental status and periodontal health of PKU patients was found to be significantly inferior compared to healthy controls. This is likely due to the regular consumption of PKU formula and the difficulties which mentally and/or physically disabled PKU patients experience with their oral hygiene. To prevent tooth decay and periodontal disease, PKU patients should visit a professional oral hygienist every three to six months. Furthermore, they should adopt the habit of rinsing their mouth with water immediately after consuming PKU formula to counteract the acidity in their oral cavity.
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    The Impact of IL1B rs1143634 and DEFB1 rs11362 Variants on Periodontitis Risk in Phenylketonuria and Type 1 Diabetes Mellitus Patients in a Latvian Population
    (2024) Emulina, Darta Elizabete; Ābola, Iveta; Brinkmane, Anda; Isakovs, Aleksejs; Skadiņš, Ingus; Moisejevs, Georgijs; Gailīte, Linda; Auzenbaha, Madara; Scientific Laboratory of Molecular Genetics; Department of Conservative Dentistry and Oral Health; Department of Biology and Microbiology
    Objectives: Periodontitis is a multifactorial disease that affects approximately 11% of the global population. The objective of this study was to examine whether, among individuals with phenylketonuria and type 1 diabetes mellitus, those with the IL1B rs1143634 and/or DEFB1 rs11362 genetic variants exhibit a higher periodontitis risk compared to healthy controls. Materials and Methods: In all, 43 phenylketonuria patients (aged 12–53), 28 type 1 diabetes mellitus patients (aged 11–40), and 63 healthy controls (aged 12–53) were included. The evaluation of periodontitis risk was conducted using the Silness–Löe plaque index, the Greene–Vermillion index, and an assessment for the necessity of calculus removal. Genetic variants rs1143634 and rs11362 were genotyped from salivary samples using restriction length polymorphism analysis. Results: The DEFB1 rs11362 variant was associated with higher Silness–Löe and Greene–Vermillion index scores in phenylketonuria patients (p = 0.011 and p = 0.043, respectively). The IL1B rs1143634 variant was associated with lower calculus removal necessity in type 1 diabetes mellitus patients (p = 0.030). Clinical examination showed the worst oral hygiene index scores for PKU patients. PKU patients also reported the least consistent tooth brushing and flossing habits. Conclusions: Genetic associations between DEFB1 rs11362 and IL1B rs1143634 variants and oral hygiene indices were observed in the PKU and T1DM groups, suggesting that genetic factors may contribute to periodontal health differences in these populations. Further research with a larger sample size is needed to confirm these findings and develop targeted oral health interventions.
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    Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6)
    (2022-02-22) Jurčenko, Marija; Auzenbaha, Madara; Mičule, Ieva; Grīnfelde, Ieva; Dzalbs, Aigars; Mālniece, Ieva; Department of Biology and Microbiology
    BACKGROUND Parental chromosomal structural abnormalities can lead to diverse chromosomal imbalances at meiotic segregation during gametogenesis and subsequent early pregnancy loss or birth of a child with a chromosomal abnormality. The incidence of unbalanced translocations is 1 per 1000 newborns versus 3 per 1000 newborns for balanced rearrangements. Here, we present the case of a mother with an unbalanced chromosomal translocation and her offspring. CASE REPORT Our patient had a 1p36.31 duplication of 0.22 Mb and 6qter deletion of 1.2 Mb. She had 5 pregnancies with different outcomes. Her first child died 24 h after birth due to a congenital heart defect. Her second pregnancy resulted in the birth of a girl who was postnatally diagnosed with 1p36 deletion syndrome. The third and fourth pregnancies ended spontaneously in the first trimester. For her last pregnancy, the patient underwent a diagnostic amniocentesis at the 16th week of gestation. A large 5.4-Mb pathogenic duplication of 1p36.33 was detected in the fetus and the woman decided to terminate the pregnancy. CONCLUSIONS In this case report, we detail the different pregnancy outcomes induced by the mother's unbalanced chromosomal translocation and review the prenatal diagnostic genetic testing. Our report clearly demonstrates the complementary nature of chromosomal microarrays and conventional karyotyping.
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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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    A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype : a case report
    (2022-12) Lucāne, Zane; Dāvidsone, Zane; Micule, Ieva; Auzenbaha, Madara; Kurjāne, Nataļja; Rīga Stradiņš University
    Background Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common manifestations include peripheral vasculopathy, early-onset stroke, immunodeficiency, and haematological manifestations. Patients with pathogenic variants that are more detrimental to ADA2’s enzymatic function (e.g. frameshift) have been reported to be prone to developing hematological phenotype. We report here the case of a 13-year-old Caucasian girl with a novel frameshift variant in the ADA2 gene and a clinical phenotype of early-onset stroke. Case presentation The patient was admitted to hospital with complaints of weakness in her right arm, unilateral facial weakness and speech problems. Her initial laboratory workup was normal; however, magnetic resonance imaging of her brain confirmed acute/subacute ischaemic changes in the posterior limb of the left-sided internal capsule and in the apical part of the thalamus. She also had manifestations of immunodeficiency – recurrent skin infections and otitis, chronic Molluscum contagiosum infection in anamnesis and B cell deficiency with a low level of serum IgA. The patient’s DNA was analysed and two pathogenic variants were identified in the ADA2 gene, confirming a diagnosis of adenosine deaminase 2 (ADA2) deficiency. While one of the variants (c.506G > A (p.Arg169Gln)) has been reported previously, the other one is a novel frameshift variant, namely, c.464del (p.Pro155Hisfs*29). The patient received stroke rehabilitation, which significantly improved her functional state. Tumour necrosis factor inhibitor and methotrexate treatment was commenced, and the patient has remained stable with no further ischaemic events. Conclusions Although rare, ADA2 deficiency should be considered in patients with early-onset stroke, especially with concomitant manifestations of inflammatory features or immunodeficiency. This case report extends the genotypic spectrum of ADA2 deficiency.
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    Oral health care knowledge among Phenylketonuria patients in the Latvian population
    (2024-12) Ābola, Iveta; Intlere, Nikola Anna; Brinkmane, Anda; Laktina, Sabine; Zariņa, Agnese; Vasilevska, Lauma; Skadiņš, Ingus; Moisejevs, Georgijs; Gailīte, Linda; Auzenbaha, Madara; Department of Conservative Dentistry and Oral Health; Scientific Laboratory of Molecular Genetics; Department of Biology and Microbiology
    BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine (Phe) metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Patients with PKU rely on amino acid mixtures and low-protein diets, which often exhibit an acidic nature and pose various challenges to oral health. The objective of the study was to evaluate oral care habits of PKU patients in Latvia and the impact of the recommendations developed on improving oral care. MATERIALS AND METHODS: In this study, during a one-month interval before and after the implementation of oral hygiene recommendations, questionnaires were distributed to all patients with PKU diagnosed in Latvia, with a response rate of 78 % (79 of 101). RESULTS: The group older and 18 years of age showed a poorer understanding of oral care even after receiving recommendations, 82 % brushing their teeth twice a day (92 % in the group <18 years of age), continuing 57 % rinsing their mouth after using amino acid formula (75 % in the younger group). Significant improvements were observed only in the respondent group younger than 18 years of age - including increases in toothbrushing twice a day by 25 % ( p = 0.001), dental flossing by 23 % ( p = 0.001), mouth rinsing after amino acid-based formula by 13 % ( p = 0.020). CONCLUSION: This study concludes that PKU patients older and 18 years of age have a poor understanding of maintaining oral hygiene and the use of the necessary supplements to improve it. Activities are needed in the future that would regularly remind and motivate PKU patients to take care of their oral health.
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    Oral Microbiome Traits of Type 1 Diabetes and Phenylketonuria Patients in Latvia
    (2023-05-31) Abola, Iveta; Gudra, Dita; Ustinova, Maija; Fridmanis, Davids; Emulina, Darta Elizabete; Skadins, Ingus; Brinkmane, Anda; Lauga-Tunina, Una; Gailite, Linda; Auzenbaha, Madara; Scientific Laboratory of Molecular Genetics; Department of Conservative Dentistry and Oral Health; Department of Biology and Microbiology
    Some metabolic disorder treatments require patients to follow a specific diet or to consume supplements that, over time, can lead to oral microbiome alterations. Well-known disorders requiring such treatment are phenylketonuria (PKU), an inborn error of amino acid metabolism, and type 1 diabetes (T1D), a metabolic disorder that requires a specific diet regimen. Therefore, the aim of this study was to investigate the oral health and microbiome characteristics that might contribute to caries activity and periodontal disease risk in PKU and T1D patients. In this cross-sectional study, 45 PKU patients, 24 T1D patients, and 61 healthy individuals between the ages of 12 and 53 years were examined. Their anamnestic data and dental status were assessed by one dentist. Microbial communities were detected from saliva-isolated DNA using 16S rRNA gene V3–V4 sequencing on Illumina MiSeq sequencing platform. Results revealed that the PKU patient group displayed the highest number of extracted teeth (on average 1.34), carious teeth (on average 4.95), and carious activity (44.44% of individuals) compared to the T1D and CTRL groups. The lowest numbers of filled teeth (on average 5.33) and extracted teeth (on average 0.63) per individual were observed in T1D patients. Gingivitis appeared more often in the T1D group; however, possible risk of periodontal disease was seen in both the T1D and PKU patient groups. The highest number of differentially abundant genera was detected in the PKU group (n = 20), with enrichment of Actinomyces (padj = 4.17 × 10−22), Capnocytophaga (padj = 8.53 × 10−8), and Porphyromonas (padj = 1.18 × 10−5) compared to the CTRL group. In conclusion, the dental and periodontal health of PKU patients was found to be significantly inferior compared to T1D patients and healthy controls. T1D patients showed early signs of periodontal disease. Several genera that correlate with periodontal disease development were found in both groups, thus suggesting that T1D and PKU patients should seek early and regular dental advice and be educated about proper oral hygiene practices.