Search

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling. Therefore, it is crucial to identify the clinical and neuroradiologic features allowing to differentiate between acquired and genetic forms of pontocerebellar hypoplasia in order to guide clinical practices and improve patient care. In this regard, we report in the present manuscript the clinical, developmental, and radiologic characteristics of 19 very premature children (gestational age <28 weeks, now aged 3-14 years) with cerebellar lesions and discuss the causal mechanisms. Our findings support the notion that a combination of specific clinical and radiologic criteria is essential in distinguishing between acquired and genetic forms of pontocerebellar hypoplasia., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: Alterations in skin structure and function are very common in uremic patients, but still there is no unifying hypothesis for uremic skin disorders. Fibroblast growth factor-23 (FGF-23) deficiency has been linked to skin disorders in non-uremic animals. We aimed to study alterations in FGF-23 and fibroblast growth factor-23 receptor 1 (FGFR1) expression in uremic rat skins., Material and Methods: Wistar albino rats were divided into two groups: sham group (SG, n = 8) and uremic group (UG, n = 8). Uremia was induced by reduction of the total kidney mass in the UG. Animals were sacrificed after 14 weeks of the follow-up., Results: Serum creatinine and blood urea nitrogen levels in the UG increased significantly, compared to the SG, at the end of the experiment (0.69 ± 0.08 vs. 0.3 ± 0.04 Mann-Whitney U test (MWU), p = 0,003 and 55.2 ± 8.9 vs. 29.6 ± 6.8 MWU, p = 0.002, respectively). Serum FGF-23 level in the UG was increased non-significantly, compared to the SG (53.5 ± 20.9 vs. 37.2 ± 9.7 MWU, p = 0.072), whereas serum 1,25(OH) 2 D 3 level was significantly lower in the UG (149.4 ± 33.5 vs. 213.8 ± 43.8 MWU, p < 0.05). Expression of FGF-23 in UG skins, assessed by western blot, was significantly higher than that in the SG (186.3 ± 16.8 vs. 148.9 ± 25.9, MWU, p < 0.01). FGFR1 expression was increased in almost all parts of the uremic skin. Receptor expression was most dense at the epidermis and hair follicles. Normal skin appendages and cells either expressed no receptor, or expressed it very weakly., Conclusion: This study shows increased FGF-23 levels and FGFR1 expression in uremic rat skins. It deserves further study to fully place this finding in the pathophysiology and clinical picture of uremic skin diseases.