Published in Journal of clinical pathology
Basal cell carcinoma (BCC) is the most common human malignant neoplasm. However, there are multiple BCC subtypes that share clinical features while demanding different management. We present a case of a woman with hundreds of BCCs throughout her body that were resistant to vismodegib and without other features of basal cell nevus syndrome. Histolog...
Published in Journal of sleep research
Poor sleep associates with mental and cardiometabolic pathological outcomes. The participation of sleep timing features in the pathways by which this relationship occurs is not clear. This study aims to evaluate the interrelationship between sleep quality and self-reported psychiatric/cardiometabolic symptoms, considering mediation and moderation e...
Published in Archives of disease in childhood
Published in The British journal of ophthalmology
We aimed to determine whether paediatric idiopathic uveitis (PIU) and juvenile idiopathic arthritis associated paediatric uveitis (JIA-PU) have an association with Toll-like receptor 10 (TLR10) gene polymorphisms in Han Chinese. Ten tag single nucleotide polymorphisms (SNPs) of TLR10 were analysed in 992 PIU patients, 127 JIA-PU patients and 1600 c...
Published in Journal of clinical pathology
The identification of actionable DNA mutations associated with a patient's tumour is critical for devising a targeted, personalised cancer treatment strategy. However, these molecular analyses are typically performed using tissue obtained via biopsy, which involves substantial risk and is often not feasible. In addition, biopsied tissue does not al...
Published in Journal of clinical pathology
Intravascular NK/T-cell lymphoma (IVNKTCL) is a rare disease, which is characterised by exclusive growth of large cells within the lumen of small vessels, Epstein-Barr virus infection and somatic mutations in epigenetic regulator genes. Here, we elucidate the transcriptomic complexity of IVNKTCL. IVNKTCL cases were retrieved from a single-centre co...
Published in The British journal of ophthalmology
To investigate the associations of single-nucleotide polymorphisms (SNPs) in the ZC3H11B, ZFHX1B, VIPR2, SNTB1 and MIPEP genes with severities of myopia in Chinese populations. Based on previous myopia genome-wide association studies, five SNPs (ZC3H11B rs4373767, ZFHX1B rs13382811, VIPR2 rs2730260, SNTB1 rs7839488 and MIPEP rs9318086) were selecte...
Sorodni vrsti, soška (Salmo marmoratus) in potočna postrv (Salmo trutta), se izrazito razlikujeta glede na vzorec v koži – pri soški postrvi najdemo labirinten, pri potočni postrvi pa pikčast vzorec. Z obsežnimi bioinformacijskimi analizami in ob dostopnosti dobro anotiranega genoma potočne postrvi smo prišli do velikega števila genov z nesinonimni...
Published in Wellcome Open Research
Background: Prior studies have estimated heritability of around 0.25 for the trait of handedness, with studies of structural brain asymmetry giving estimates in a similar or lower range. Little is known about heritability of functional language lateralization. This report describes heritability estimates using functional language laterality and han...
Keratoconus, a progressive corneal ectasia, is a complex disease with both genetic and environmental risk factors. The exact etiology is not known and is likely variable between individuals. Conditions such as hay fever and allergy are associated with increased risk, while diabetes may be protective. Behaviors such as eye rubbing are also implicate...
