Croatian medical journal
-
Croatian medical journal · Feb 2020
Case ReportsCongenital factor XI deficiency caused by a novel F11 missense variant: a case report.
Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe FXI deficiency, whereas heterozygotes show partial or mild deficiency. ⋯ The family study revealed that the A428C mutation was inherited from the father. This variant has not previously been described in the literature and is the first F11 variant described in the Croatian population. Our study showed that even when family members have the same germline F11 variant, they still may experience phenotypic variability, making disease prognosis more complex.
-
Croatian medical journal · Feb 2020
The effects of daylight exposure on melatonin levels, Kiss1 expression, and melanoma formation in mice.
To determine how daylight exposure in mice affects melatonin protein expression in blood and Kiss1 gene expression in the hypothalamus. The second aim was to assess the relationship between skin cancer formation, daylight exposure, melatonin blood level, and kisspeptin gene expression level. ⋯ Melatonin and Kiss1 were shown to be nvolved in tumor suppression. They were affected by daylight and were mutually affected by each other.