Publications by authors named "P J Nieminen"

Background: Amplicon sequencing of kingdom-specific tags such as 16S rRNA gene for bacteria and internal transcribed spacer (ITS) region for fungi are widely used for investigating microbial communities. So far most human studies have focused on bacteria while studies on host-associated fungi in health and disease have only recently started to accumulate. To enable cost-effective parallel analysis of bacterial and fungal communities in human and environmental samples, we developed a method where 16S rRNA gene and ITS1 amplicons were pooled together for a single Illumina MiSeq or HiSeq run and analysed after primer-based segregation.

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Introduction: Colposcopy is a standard procedure for evaluating cervical abnormalities and collecting cervical biopsies. The procedure is associated with intra- and inter-observer variation. A colposcopic scoring system, Swedescore, has been designed to standardise and facilitate colposcopy training.

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  • In Finland, isolated cleft palate (CP) occurs more frequently than cleft lip with or without cleft palate (CL/P), which is the opposite trend seen in other European countries.
  • A genome-wide association study revealed a specific single nucleotide polymorphism (rs570516915) strongly linked to CP in the Finnish population, showing significant statistical results and confirmed in other cohorts.
  • The risk allele for rs570516915 disrupts a binding site for the IRF6 transcription factor, leading to decreased IRF6 expression, indicating that this genetic alteration may be a key factor in the mechanism causing CP.
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  • Osteoarthritis (OA) and rheumatoid arthritis (RA) are both inflammatory joint diseases with overlapping symptoms but distinct causes, potentially linked to adipose tissue like the infrapatellar fat pad (IFP).
  • The study aimed to identify key genes and pathways in IFPs of OA and RA patients through RNA sequencing, ultimately looking to enhance diagnostics and develop personalized treatment options.
  • Findings revealed significant differences in gene expression between OA and RA, highlighting specific metabolic pathways and suggesting that IFP plays a role in inflammation and cartilage degradation, potentially offering new targets for diagnosis and therapy.
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