Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

Peer reviewe

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome

Exome sequencing revealed the cause of our 35-year-old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2

Paikallinen arki matkailussa

Matkailututkimus 14:2/2018

Katsaus yhteiskunnalliseen yrittäjyyteen matkailussa: osallisuuden mahdollisuudet pohjoisen urbaaneissa paikallisyhteisöissä

The purpose of this literature review is to explore how social entrepreneurship research is conducted in the field of tourism and to consider the possibilities, limitations and challenges, which are included in it in urban, northern environment. Social entrepreneurship in tourism can be attached to a larger context of the inclusion and possibilities of inclusion, which are in tourism research discussed in terms of social and inclusive tourism. The impact of social entrepreneurship is namely on the social: communities and societies. It aims in producing meaningful influence besides economic benefit to the society. In this review, we first explore how social entrepreneurship is discussed in the field of tourism research. We also reflect what kind of viewpoints the discussions offer to social entrepreneurship in tourism in the northern, urban context. Based on the review, the central terms of social entrepreneurship in tourism are value creation, social innovations and sustainability. The aim of the social enterprises in tourism is especially to develop the living conditions of the community through, for instance, creating jobs, increasing the employability of those at risk of exclusion and supporting communities in the periphery. The social enterprises are studied very little in the context of urban north since the studies focus on rural destinations

Perinnöllisyyslääkärin osuus syövän geenidiagnostiikassa - kokemukset Tyksistä ja muualta

Geeniohjatun syövän hoidon työryhmän (MTB) tiimityöskentelyssä perinnöllisyyslääkärien rooliin kuuluu erityisesti geenivarianttien eli geenimuutosten merkitysten tulkinta siitä näkökulmasta, voisiko todettu variantti olla perinnöllinen ituradassa esiintyvä variantti (germline variant) somaattisen sijasta. Uusimpien raporttien mukaan kasvainnäytetutkimusten tulokset viittaavat siihen, että perinnöllisten syöpien osuus kaikista syövistä on aikaisemmin ymmärrettyä suurempi. Esittelemme Tyksin MTB:n päätösten pohjalta kahden vuoden aikana hoidetut 20 potilasta perinnöllisyyslääkärin näkökulmasta. Pilottiaineistossa todettujen perinnöllisten patogeenisten geenivarianttien osuus oli 15 \%, mikä on linjassa uusimpaan kirjallisuustietoon nähden

Perinnöllisyyslääkärin osuus syövän geenidiagnostiikassa - kokemukset Tyksistä ja muualta

Vertaisarvioitu. Teema : geeniohjatun syövän hoidon työryhmä.Geeniohjatun syövän hoidon työryhmän (MTB) tiimityöskentelyssä perinnöllisyyslääkärien rooliin kuuluu erityisesti geenivarianttien eli geenimuutosten merkitysten tulkinta siitä näkökulmasta, voisiko todettu variantti olla perinnöllinen ituradassa esiintyvä variantti (germline variant) somaattisen sijasta. Uusimpien raporttien mukaan kasvainnäytetutkimusten tulokset viittaavat siihen, että perinnöllisten syöpien osuus kaikista syövistä on aikaisemmin ymmärrettyä suurempi. Esittelemme Tyksin MTB:n päätösten pohjalta kahden vuoden aikana hoidetut 20 potilasta perinnöllisyyslääkärin näkökulmasta. Pilottiaineistossa todettujen perinnöllisten patogeenisten geenivarianttien osuus oli 15 %, mikä on linjassa uusimpaan kirjallisuustietoon nähden.Peer reviewe

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4

Background Central hypothyroidism (CeH) is a rare condition affecting approximately 1:16 000- 100 000 individuals. Congenital forms can harm normal development if not detected and treated promptly. Clinical and biochemical diagnosis, especially of isolated CeH, can be challenging. Cases are not usually detected in neonatal screening, which, in most countries, is focused on detection of the more prevalent primary hypothyroidism. Until now, five genetic causes for isolated CeH have been identified. Here we aimed to identify the genetic cause in two brothers with impaired growth diagnosed with CeH at the age of 5 years. We further evaluated the candidate gene variants in a large genetic database. Methods Clinical and biochemical characterization together with targeted next-generation sequencing (NGS) was used to identify the genetic cause in a family of two brothers presenting with CeH. Screening of insulin receptor substrate 4 (IRS4) variants was carried out in the FinnGen database. Results A novel monoallelic frameshift mutation c.1712_1713insT, p.Gly572Trp fs*32 in the X-linked IRS4 gene was identified by NGS analysis in both affected males and confirmed using Sanger sequencing. Their mother was an unaffected carrier. In addition to the declined growth at presentation, central hypothyroidism and blunted TRH test, no other phenotypic alterations were found. Diagnostic tests included head MRI, thyroid imaging, bone age, and laboratory tests for thyroid autoantibodies, glucose, insulin and glycosylated hemoglobin levels. Examination of the IRS4 locus in FinnGen (R5) database revealed the strongest associations to a rare Finnish haplotype associated with thyroid disorders (p = 1.3e-7) and hypothyroidism (p = 8.3e-7). Conclusions Here, we identified a novel frameshift mutation in an X-linked IRS4 gene in two brothers with isolated CeH. Furthermore, we demonstrate an association of IRS4 gene locus to a general thyroid disease risk in the FinnGen database. Our findings confirm the role of IRS4 in isolated central hypothyroidism.Peer reviewe

Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

Noonan syndrome is a genetically heterogeneous developmental disorder, which usually includes findings such as short stature, facial dysmorphia, cardiac abnormalities and a varying degree of intellectual disability. We present a unique case of a rare variant of Noonan syndrome in a very preterm female infant born at 28 + 4 gestational weeks, with abnormal radiological findings visible at fetal magnetic resonance imaging (MRI) and evolution of the brain lesions during infancy