Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease

An amyloid precursor protein (APP) A673T mutation was found to be protective against Alzheimer's disease (AD) and cognitive decline in the Icelandic population and to associate with decreased levels of plasma β-amyloid in a Finnish population-based cohort. Human fibroblasts from a Finnish male individual carrying the protective mutation were used to generate integration-free induced pluripotent stem cell (iPSCs) line by Sendai virus technology. The iPSC line retained the mutation and expressed pluripotency markers, had a normal karyotype and differentiated into all three germ layers.Peer reviewe

Aikuisten vaikean ruoka-aineallergian siedätyshoito

English summaryPeer reviewe

Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer's disease

A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer's disease (AD) and age-related cognitive decline. The A673T mutation decreases beta-amyloid (A beta) production and aggregation in neuronal cultures in vitro. Here we have identified a Finnish non-diseased male individual carrying a heterozygous A673T mutation, obtained a skin biopsy sample from him, and generated an iPSC line using commercially available integration-free Sendai virus-based kit. The established iPSC line retained the mutation, expressed pluripotency markers, had a normal karyotype, and differentiated into all three germ layers in vitro.Peer reviewe

Haluatko optiikan mestariksi? : Oppimateriaali optiikan ja silmälasiteknologian perusteista

Opinnäytetyön päämääränä oli tuottaa suomenkielinen oppimateriaali optiikan ja silmälasiteknologian perusteista. Tarkoituksena on koota yhteen optometristin osaamisen kannalta tärkeimmät optiikan ja silmälasiteknologian laskukaavat ja teoria-asiat. Oppimateriaali on suunnattu ensisijaisesti optometristiopiskelijoille opiskelun tueksi, ja työ on toteutettu yhteistyössä Metropolia Ammattikorkeakoulun kanssa. Opinnäytetyön teoriaosuudessa käsitellään oppimateriaalin kokoamiseen liittyvää teoriaa sekä käydään läpi projektin etenemistä. Tarvetta oppimateriaalille kartoitettiin kyselylomakkeella, joka jaettiin syksyllä 2017 optometrian opintonsa aloittaneille opiskelijoille. Kyselyn perusteella opiskelijoilla oli tarve suomenkieliselle optometristeille suunnatulle optiikan oppimateriaalille. Myös lähes valmista oppimateriaalia testattiin opiskelijoilla. Opiskelijoiden näkemyksen mukaan kokonaisuus oli selkeä ja johdonmukainen. Kuvat ja esimerkit auttoivat paremmin ymmärtämään teoria-asioita. Oppimateriaalia muokattiin lopulliseen muotoonsa saatujen kehitysehdotusten perusteella. Valmis oppimateriaali on jaettu kolmeen osioon: silmälasiteknologiaan, optiikkaan ja piilolinssioptiikkaan. Kukin osio käsittelee asioita aihealueittain havainnollistavien kuvien ja esimerkkien avulla. Asiat on pyritty selittämään yksinkertaisesti ja ymmärrettävästi, mutta riittävän laajasti. Teoriaosuuden jälkeen oppimateriaalissa on kaavakokoelma, johon on kerätty kaikki oppimateriaalissa käytetyt laskukaavat. Tämän jälkeen omaa osaamista voi vielä testata eri aihealueiden tehtävillä, joiden vastaukset löytyvät tehtäväosion jälkeen. Monipuolisen sisältönsä takia oppimateriaali tukee erilaisia oppimistyylejä. Oppimateriaali on liitteenä työn lopussa ja se on nähtävissä myös Issuu-julkaisualustalla. Työn tavoite oli selkeyttää optiikan opiskelua, tuomalla monen eri opintojakson asiat yhteen johdonmukaiseen kokonaisuuteen. Opiskelun lisäksi oppimateriaalia voidaan hyödyntää työelämässä, sillä sen avulla optiikan asioihin on helppo palata. Nettijulkaisuna oppimateriaali on helposti kaikkien nähtävillä, ja sen voi halutessaan myös tulostaa itselleen.The purpose of the thesis was to create a study material in Finnish on basics of optics and spectacle technology. The aim is to combine all the important formulas and theoretical aspects of optics and spectacle technology relevant to optometrist’s expertise. The study material is primarily meant for optometry students who can use the material in their studies. The thesis was made in partnership with Metropolia University of Applied Sciences. The theoretical part of the thesis deals with the theory of creating a study material and goes over the progress of the project. The need for the study material was mapped out through a questionnaire that was distributed to students who had started their optometry studies in the fall of 2017. According to the questionnaire, students had a need for study material of optics directed to optometrists in Finnish. In addition, the nearly finished study material was tested on students. According to the students, the material was clear and logical. The images and examples were considered helpful in the understanding of the theory. The study material was modified into its final form based on the received development suggestions. The finished learning material is divided into three sections: spectacle technology, optics and contact lens optics. Each section uses illustrative images and examples as a support for theory. The attempt was to explain things simply and understandably. At the end of the study material there is a collection of all the formulas used in the study material. After that, the reader can test his/her skills with exercises on different topics. The answers for the exercises are also included. The study material is attached at the end of the thesis and is available at Issuu.com. The aim of the thesis was to clarify studies of optics. The learning material can also be used in working life as well as part of the optometry studies. Through a web release, the study material is easily accessible to anyone and it can be printed out as well

The effect of oral immunotherapy treatment in severe IgE mediated milk, peanut, and egg allergy in adults

INTRODUCTION: The standard care of severe food allergy in both adults and children means avoidance of allergens. In recent years promising results of oral immunotherapy (OIT) have been reported in children. In adults, information on OIT in severe food allergy is very limited. OBJECTIVE: We aimed to study if OIT is possible in adults. METHODS: We report OIT results in 10 adult patients with milk OIT, nine adult patients with peanut OIT, and four adult patients with egg OIT. The allergy was confirmed with allergen specific IgE tests and oral food challenges (open in milk allergy and double-blind in peanut and egg allergy). The OIT was performed as open. RESULTS: The median dose of protein that led to discontinuation of allergen challenge because of symptoms was 7.5 mg in milk allergy, 25 mg in peanut allergy, and 15 mg in egg allergy. The median period of OIT was 515 days. Currently on OIT are 6/10 milk allergic patients, 4/9 peanut allergic patients and 3/4 egg allergic patients. The median dose of milk protein increased by 60-fold during OIT compared to the allergen challenge dose. In peanut OIT the median dose increased by eightfold and in egg allergy the dose increased with OIT by 35-fold. Local itching was the most common side effect of OIT (73.9% of the patients), four patients reported having used epinephrine autoinjector and three patients having needed emergency room treatment. CONCLUSIONS AND CLINICAL RELEVANCE: OIT can be given in adult patients with severe milk, peanut, or egg allergy only in selected cases. OIT leads into desensitization but it is not clear whether persistent tolerance can be achieved. Mild adverse events during OIT are common.Peer reviewe

Long-term clinical outcome of oral immunotherapy in adults with milk, peanut, and egg allergy : A pilot study

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Sleep apnoea is a risk factor for severe COVID-19

Background Obstructive sleep apnoea (OSA) is associated with higher body mass index (BMI), diabetes, older age and male gender, which are all risk factors for severe COVID-19.We aimed to study if OSA is an independent risk factor for COVID-19 infection or for severe COVID-19.Methods OSA diagnosis and COVID-19 infection were extracted from the hospital discharge, causes of death and infectious diseases registries in individuals who participated in the FinnGen study (n=260 405). Severe COVID-19 was defined as COVID-19 requiring hospitalisation. Multivariate logistic regression model was used to examine association. Comorbidities for either COVID-19 or OSA were selected as covariates. We performed a meta-analysis with previous studies.Results We identified 445 individuals with COVID-19, and 38 (8.5%) of them with OSA of whom 19 out of 91 (20.9%) were hospitalised. OSA associated with COVID-19 hospitalisation independent from age, sex, BMI and comorbidities (p-unadjusted=5.13×10−5, OR-adjusted=2.93 (95% CI 1.02 to 8.39), p-adjusted=0.045). OSA was not associated with the risk of contracting COVID-19 (p=0.25). A meta-analysis of OSA and severe COVID-19 showed association across 15 835 COVID-19 positive controls, and n=1294 patients with OSA with severe COVID-19 (OR=2.37 (95% 1.14 to 4.95), p=0.021).Conclusion Risk for contracting COVID-19 was the same for patients with OSA and those without OSA. In contrast, among COVID-19 positive patients, OSA was associated with higher risk for hospitalisation. Our findings are in line with earlier works and suggest OSA as an independent risk factor for severe COVID-19

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe