Publications by authors named "Minna Kraatari"
Background: The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate-to-severe hearing impairment.
Methods: Exome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.
Article Synopsis
- Puumala hantavirus (PUUV) can lead to hemorrhagic fever with renal syndrome (HFRS) in Northern Europe, and while it typically has mild effects, it can occasionally cause serious complications like encephalitis.
- This study investigated whether genetic defects in the TLR3 gene, similar to those seen in individuals with HSV-1 encephalitis, might contribute to PUUV-related encephalitis.
- The researchers found a rare TLR3 variant in two of seven patients with PUUV encephalitis, indicating that mutations in this gene could play a role in the severity of such infections, warranting further research into other similar viral encephalitis cases.
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy caused by pathogenic variants in the myotubularin 1 (MTM1) gene. XLMTM leads to severe weakness in male infants and majority of them die in the early postnatal period due to respiratory failure. Disease manifestations in female carriers vary from asymptomatic to severe, generalized congenital weakness.
View Article and Find Full Text PDFBackground: Low back pain (LBP) is a common disabling condition. Lumbar disc degeneration (LDD) may be a contributing factor for LBP. Modic change (MC), a distinct phenotype of LDD, is presented as a pathological bone marrow signal change adjacent to vertebral endplate on MRI.
View Article and Find Full Text PDFStudy Design: A family-based study.
Objective: The aim of this study was to identify rare genetic factors predisposing to Modic changes (MCs).
Summary Of Background Data: Lumbar disc degeneration (LDD) is one of the contributing factors behind low back pain (LBP).
Purpose: To study the prevalence of vertebral endplate or Modic change (MC), the progression of MC over a 10-year follow-up and the heritability of MC prevalence in a classical twin study.
Methods: The study population was recruited from TwinsUK register between 1996 and 2000. MC was evaluated from T2-weighted lumbar magnetic resonance imaging (MRI) at baseline and follow-up.