Folkhälsans Forskningscentrum

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

BACKGROUND: SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican anc...

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks...

dicast: a machine learning method for accurate structural variant detection from short-read sequencing data

Abstract Structural variants are a common cause of human diseases, but their detection from short-read sequencing remains challenging, despite being the technology underlying most clinical workflows. We present dicast , a machine-learning method that scores SV calls from short-re...

Connecting Skin and Gut in Dermatitis Herpetiformis: Insights from Gluten Challenge Transcriptomics

Dermatitis herpetiformis (DH) is a dietary gluten -induced autoimmune blistering skin disease. It is hypothesized to be initiated by a small intestinal mucosal immune response. Gluten-free diet (GFD) is the primary treatment for DHdermatitis herpetiformis and effectively resolves...

Management practices and human–horse relationships are associated with horse personality traits

Abstract The human–horse relationship has evolved through centuries of domestication, shaping how horses are managed and interact with people. Horses show interindividual behavioural differences that constitute personality, with implications for welfare, management and human–hors...

Craniofacial growth in Mulibrey nanism and impact of growth hormone treatment

Abstract Background Mulibrey nanism (MUL) impacts cellular metabolism and leads to severe prenatal onset growth restriction, distinctive craniofacial features, heart disease, hypogonadism, and predisposition to tumors. Growth hormone therapy is commonly used in treatment of patie...

Early adolescent self-harm: examining prevalence and risk factors in a multi-ethnic Asian birth cohort

Abstract Background Early adolescence marks a vulnerable developmental phase for the emergence of self-harm behaviours, which can potentially be life-threatening. However, the prevalence and risk factors of early adolescent self-harm, particularly in non-Western community-based p...

Preferential Retention of the LMP-1 Promoter at EBV Integration Sites in Lymphomas: Evidence from Cartilage Hair Hypoplasia and Controls

Abstract Purpose Cartilage-Hair Hypoplasia (CHH), a rare ribosomopathy characterized by immune deficiency, carries a markedly increased risk of early-onset malignancy, particularly lymphoma. However, the molecular drivers of malignant transformation in CHH, and the contribution o...

Associations of mental health with subsequent weight development during a 4-year follow-up in adolescence

Abstract Background Although obesity and mental health problems represent two of the most pressing public health challenges, their developmental interplay remains insufficiently understood. Thus, we examined how depressive and anxiety symptoms, self-esteem, and psychological resi...

Association of salivary matrix metalloproteinase-8 with metabolic syndrome in women at high GDM risk

Abstract Background To assess associations between metabolic syndrome (MetS), insulin resistance, and periodontal diseases with salivary active matrix metalloproteinase-8 (aMMP-8) in metabolically high-risk women. Methods A total of 112 women with a history of high gestational di...

Lipids and apolipoproteins affect the risk of ST-elevation and non-ST-elevation myocardial infarctions differently in type 1 diabetes: a nationwide finnish cohort study

Non-ST-elevation myocardial infarction (NSTEMI) has become the main myocardial infarction subtype in type 1 diabetes compared to ST-elevation myocardial infarction (STEMI), accounting for nearly 80% of myocardial infarction-related hospitalizations. Yet, prior studies in type 1 d...