Publications by authors named "L Gailite"
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.
View Article and Find Full Text PDFBackground: The intricate molecular pathways and genetic factors that underlie the pathophysiology of cervical insufficiency (CI) remain largely unknown and understudied.
Methods: We sequenced exomes from 114 patients in Latvia and Lithuania, diagnosed with a short cervix, CI, or a history of CI in previous pregnancies. To probe the well-known link between CI and connective tissue dysfunction, we introduced a connective tissue dysfunction assessment questionnaire, incorporating Beighton and Brighton scores.
Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients.
Allergy Asthma Clin Immunol
March 2024
Article Synopsis
- Hereditary angioedema (HAE) is difficult to diagnose due to its variable symptoms and many overlapping conditions, especially in cases with normal C1-inhibitor levels (nC1-INH HAE).
- A study found that traditional genetic testing was only successful in identifying pathogenic variants in a small number of HAE patients, urging the use of comprehensive sequencing methods like genome, exome, and transcriptome analysis.
- Despite various genetic investigations, the diagnostic success for nC1-INH HAE was low, highlighting the necessity for ongoing clinical assessments and further research to better understand the complexities of this condition.
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 and/or 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.
Background: The European Society for Immunodeficiencies recommends that all patients with inborn errors of immunity (IEI) without contraindications should receive SARS-CoV-2 vaccination. The aim of this study was to investigate the reasons that discourage IEI patients from receiving the recommended vaccination and to assess vaccination coverage among IEI patients in Latvia.
Methods: In this multicenter mixed-methods study, the vaccination status of all patients with IEI within two tertiary centers in Latvia was reviewed using electronic health records.