Croatian medical journal
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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.
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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.
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Croatian medical journal · Feb 2020
Comparative StudyTargeted prostate biopsy using a cognitive fusion of multiparametric magnetic resonance imaging and transrectal ultrasound in patients with previously negative systematic biopsies and non-suspicious digital rectal exam.
To compare cognitive fusion targeted and systematic prostate biopsy in patients with repeated negative systematic biopsy but persistent clinical suspicion for prostate cancer. ⋯ Cognitive targeted prostate biopsy based on mpMRI presents a valuable addition to systematic biopsy in patients with repeated negative systematic biopsies but persistent clinical suspicion of prostate cancer.
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Croatian medical journal · Feb 2020
Comparative StudyPre-treatment vitamin B12, folate, ferritin, and vitamin D serum levels in patients with warts: a retrospective study.
To compare the serum levels of 25-hydroxyvitamin D, ferritin, folate, vitamin B12, zinc, and thyroid stimulating hormone between patients with warts and healthy individuals. ⋯ Patients with warts may require evaluation of serum levels of vitamin B12, folate, ferritin, and vitamin D.