No abstract

Aneurysmal bone cyst (ABC) is a non-neoplastic locally destructive primary bone lesion mostly occurring within the first two decades of life with female predominance. Cervical spine ABCs are a very rare clinical entity with particularly demanding surgical resection limited by the involvement of nearby neurovascular structures and a risk for cervical spine instability. We present a case of a 17-year-old patient with a symptomatic ABC of the cervical spine who underwent surgical removal of the osseous lesion with good postoperative outcome. There are different therapeutic strategies for ABC management, but complete surgical removal of the cyst remains one of the most important predictors of favorable outcome, although it can be often limited, especially in the cervical region. Previously described lesions have a very high recurrence rate and therefore different additional methods, such as radiotherapy, embolization and sclerosation have been used in addition to surgical resection. Further studies are necessary for development of evidence-based treatment regimens for cervical spine ABCs in pediatric population.

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the Yin Yang 1 (YY1) gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellectual disability. Herein, we report the case of a newborn male patient with a novel de novo pathogenic variant in the Guanine Nucleotide-Binding Protein, Alpha Stimulating (GNAS) gene, which was identified by whole-exome sequencing. Our patient suffered from a large open spinal dysraphism which was treated surgically immediately after birth. During the follow-up, facial dysmorphism, bladder and bowel incontinence, and mildly delayed motor and speech development were observed. Congenital central nervous system disorders were also confirmed radiologically. In this case report, we present our diagnostic and treatment approaches to this patient. To our knowledge, this is the first reported case of Gabriele-de Vries syndrome presenting with spinal dysraphism. Extensive genetic evaluation is the cornerstone in treatment of patients with suspected Gabriele-de Vries syndrome. However, in cases with potentially life-threatening conditions, surgery should be strongly considered.

Introduction: Psoriasis is a chronic, inflammatory systematic disease that primarily affects the skin. Various factors influence the disease outcome and severity, among which the influence of vitamin D serum levels could potentially be important for disease pathogenesis and therapeutic strategies. Aim: To analyze vitamin D serum levels in patients with psoriasis in comparison to healthy individuals, together with markers of inflammation and disease severity. Methods: The study included patients with psoriasis that formed the case group, while the control group consisted of healthy individuals. The investigated features were demographical data, body mass index (BMI), disease severity, vitamin D serum levels, inflammatory markers, and parathyroid hormone (PTH) levels. Results: The study included 112 participants, 60 in the case group and 52 in the control group with the median age of 49 years. Physical activity was higher in the control group, while the body mass and the BMI were higher in the case group. Participants’ BMI negatively correlated to vitamin D serum levels, as well as C-reactive protein values in the control group and PTH in the case group. There was no significant difference in nicotine and alcohol consumption, sun exposure or vitamin D levels between the two groups. Conclusion: Both groups presented with vitamin D serum levels in the deficiency range. The seasons of the year and the participants’ BMI affected vitamin D status. Vitamin D levels were equally distributed between the groups without influence on disease severity.