Publications by authors named "Moilanen J"

Objectives: According to the manufacturer, the Hemochron ACT-LR cuvette is designated for heparin concentrations of 0 to 2.5 IU/mL, while the optimal concentration range for the ACT+ cartridge is 1 to 6 IU/mL. We hypothesized that at low to moderate heparin concentrations, the ACT-LR is more reliable than the ACT+.

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  • * Manually labeling unstructured medical reports for DR analysis is labor-intensive, leading to the development of DR-GPT, a large language model designed to classify DR severity from these reports.
  • * DR-GPT demonstrated high accuracy in severity classification and improved the performance of image classifiers when its annotations were combined with fundus images, showcasing the potential of AI in healthcare.
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Purpose: To analyze central corneal in vivo confocal microscopy (IVCM) in Terrien marginal degeneration (TMD).

Methods: An observational prospective case-control study. Ten Finnish patients with TMD from a tertiary referral center were compared with 10 age- and sex-matched healthy volunteers.

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The -acyl-ω-hydroxy fatty acids (OAHFAs) are an intriguing class of surface-active lipids which can be found in the human tear film lipid layer (TFLL). Recent studies have suggested that OAHFAs exist in the polar lipid layer and play a central role in TFLL function. Surprisingly, biophysical profiling studies have only shed light on the properties of OAHFAs bearing an oleate acyl group and insights on species with other acyl groups are scarce.

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Si nanoparticles (NPs) have been actively developed as a hyperpolarized magnetic resonance imaging (MRI) contrast agent with an imaging window close to one hour. However, the progress in the development of NPs has been hampered by the incomplete understanding of their structural properties that correspond to efficient hyperpolarization buildup and long polarization decays. In this work we study dynamic nuclear polarization (DNP) of single crystal porous Si (PSi) NPs with defined doping densities ranging from nominally undoped to highly doped with boron or phosphorus.

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  • The m.3243A>G variant in mitochondrial DNA is linked to MELAS syndrome, primarily affecting childhood to adolescence, but presents differently in adults with various neurological symptoms.
  • A study of 51 adults and a meta-analysis of 1,314 patients showed common symptoms like sensorineural hearing impairment, cognitive impairment, and myopathy, while stroke-like episodes were rare.
  • Factors such as variant heteroplasmy, age, sex, and mtDNA haplogroup influence the severity of symptoms, with males typically experiencing more severe disabilities.
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  • The study aimed to identify brain MRI patterns associated with pediatric genetic disorders linked to white matter abnormalities in Northern Finland, focusing on patients diagnosed before age 18.
  • Researchers reviewed MRI scans from Oulu University Hospital collected over 29 years, ultimately analyzing 83 patients with 52 different genetic conditions that showed significant white matter issues.
  • A majority (87%) of the children had abnormal MRI results, highlighting specific abnormalities like cerebral white matter changes and thinning of the corpus callosum, indicating that these patterns can help diagnose rare genetic disorders effectively.
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Background: In familial pulmonary fibrosis (FPF) at least two biological relatives are affected. Patients with FPF have diverse clinical features.

Research Question: We aimed to characterize demographic and clinical features, re-evaluate high-resolution computed tomography (HRCT) scans and histopathology of surgical lung biopsies, assess survival and investigate the suitability of risk prediction models for FPF patients.

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Purpose: To report clinical and genetic characteristics of familial exudative vitreoretinopathy (FEVR) in the Finnish population.

Methods: Detailed clinical and genetic data of 35 individuals with heterozygous pathogenic variants in FZD4 were gathered and analysed.

Results: Thirty-two individuals with FZD4 c.

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Molecular systems known as single-molecule magnets (SMMs) exhibit magnet-like behaviour of slow relaxation of the magnetisation and magnetic hysteresis and have potential application in high-density memory storage or quantum computing. Often, their intrinsic magnetic properties are plagued by low-energy molecular vibrations that lead to phonon-induced relaxation processes, however, there is no straightforward synthetic approach for molecular systems that would lead to a small amount of low-energy vibrations and low phonon density of states at the spin-resonance energies. In this work, we apply knowledge accumulated over the last decade in molecular magnetism to nanoparticles, incorporating Er ions in an ultrasmall sub-3 nm diamagnetic NaYF nanoparticle (NP) and probing the slow relaxation dynamics intrinsic to the Er ion.

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The tear film lipid layer (TFLL) plays a vital part in maintenance of ocular health and represents a unique biological barrier comprising unusual and specialized lipid classes and species. The wax and cholesteryl esters (WEs and CEs) constitute roughly 80-90% of the TFLL. The majority of species in these lipid classes are branched and it is therefore surprising that the synthesis and properties of the second largest category of species, i.

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  • Intellectual disability (ID) covers a broad range, with mild cases being part of the general intelligence distribution and severe cases often linked to specific genetic disorders.
  • A study of a large cohort in Northern Finland revealed that while a small percentage of mild ID is due to Finnish-enriched recessive variants, dominant variants have a more significant role in both mild and severe cases.
  • Analysis showed that both rare and common genetic variants contribute to ID, with their combined effects being more predictive of ID status than each type alone.
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In this study, we synthesised and characterised a new zinc(II) triazenide for potential use in vapour deposition of zinc sulphide thin films. The compound is volatile and quantitatively sublimes at 80 °C under vacuum (0.5 mbar).

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  • The study aimed to analyze corneal topography related to astigmatism and corneal curvatures in patients with Terrien marginal degeneration using advanced imaging techniques.
  • Twenty-nine eyes from 15 Finnish patients were classified into four corneal topographic patterns: crab claw, mixed, arcuate, and normal, with observations made on progression and various corneal metrics.
  • The results indicated that corneal topographic patterns differ significantly, with CC and M patterns showing more rapid progression and specific aberrations, suggesting these patients may need closer monitoring compared to others.
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Dry eye disease (DED), the most common ocular disorder, reduces the quality of life for hundreds of millions of people annually. In healthy eyes, the tear film lipid layer (TFLL) stabilizes the tear film and moderates the evaporation rate of tear fluid. In >80% of DED cases, these central features are compromised leading to tear film instability and excessive evaporation of tear fluid.

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Copy number variants (CNVs) are a major source of genetic variation and can disrupt genes or affect gene dosage. They are known to be causal or underlie predisposition to various diseases. However, the role of CNVs in inherited breast cancer susceptibility has not been thoroughly investigated.

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Good mental health is imperative for one's wellbeing. While clinical mental disorder treatments exist, self-care is an essential aspect of mental health. This paper explores the use and perceived trust of conversational agents, chatbots, in the context of crowdsourced self-care through a between-subjects study ( = 80).

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The tear film lipid layer (TFLL) is a unique biological membrane of importance to the maintenance of ocular surface health. The underlying factors at play, e.g.

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CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer.

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The marked sexual dimorphism prevalent in inflammatory/autoimmune diseases is mostly due to sex hormone actions. One common eye disease that disproportionately affects women is dry eye. Thus, our aim was to optimise our highly sensitive liquid chromatography-tandem mass spectrometry method for steroid hormone quantification in tear fluid (TF).

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Salla disease (SD) is a rare lysosomal storage disorder characterised by intellectual disability ataxia, athetosis, nystagmus, and central nervous system demyelination. Although the neurological spectrum of SD's clinical phenotype is well defined, psychotic symptoms in SD remain unreported. We reviewed the presence of psychiatric symptoms in patients diagnosed with SD.

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α-Aminophosphonates, -phosphinates, and -phosphine oxides are a group of organophosphorus compounds that were investigated as extraction agents for rare earth (RE) metals and actinoids for the first time in the 1960s. However, more systematic investigations of their extraction properties towards REs and actinoids were not started until the 2010s. Indeed, recent studies have shown that these α-amino-functionalized compounds can outperform the commercial organophosphorus extraction agents in RE separations.

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TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow failure syndrome characterized by mucocutaneous abnormalities and cancer predisposition. Recent reports indicate that specific TINF2 truncating mutations act as high penetrance cancer predisposition alleles outside DC context, including breast cancer in their tumor spectrum.

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  • Sensorineural hearing loss (SNHL) is a prevalent sensory deficit influenced by genetic factors, with the TMC1 gene being a significant contributor to various types of congenital and progressive hearing loss.
  • Eight Finnish families were studied, revealing distinct TMC1 variants linked to hearing loss, including a potential founder variant prevalent in Finland and a novel recessive variant.
  • Early diagnosis and prompt rehabilitation with hearing aids or cochlear implants led to improved speech perception in affected individuals, highlighting the impact of genetic factors on rehabilitation outcomes.
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The tear film lipid layer (TFLL) is important to the maintenance of ocular surface health. Surprisingly, information on the individual roles of the myriad of unique lipids found therein is limited. The most abundant lipid species are the wax esters (WE) and cholesteryl esters (CE), and, especially their branched analogs.

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