Bone age is one of biological indicators of maturity used in clinical practice and it is a very important parameter of a child’s assessment, especially in paediatric endocrinology. The most widely used method of bone age assessment is by performing a hand and wrist radiograph and its analysis with Greulich-Pyle or Tanner-Whitehouse atlases, although it has been about 60 years since they were published. Due to the progress in the area of Computer-Aided Diagnosis and application of artificial intelligence in medicine, lately, numerous programs for automatic bone age assessment have been created. Most of them have been verified in clinical studies in comparison to traditional methods, showing good precision while eliminating inter- and intra-rater variability and significantly reducing the time of assessment. Additionally, there are available methods for assessment of bone age which avoid X-ray exposure, using modalities such as ultrasound or magnetic resonance imaging.
RCC can present with serious symptoms that significantly deteriorate patients' quality of life. Despite a successful neurosurgical treatment in most of the analysed cases, patients required long-term pharmacological treatment.
Purpose Craniopharyngioma is one of the most frequent benign tumours of the central nervous system in the paediatric population. Although it is a benign tumour according to the WHO classification, it significantly deteriorates the patient's quality of life. The aim of this study is to assess if proliferation index Ki67 can be a useful marker of the risk of craniopharyngioma's recurrence. Methods Expression of Ki67 was examined in 85 specimens of primary craniopharyngioma and in 11 specimens of the recurring tumour. In all the cases, adamantinomatous type of craniopharyngioma was diagnosed. Values of Ki67 expression were compared between patients with and without recurrence, between patients with progression and relapse and between primary and recurrent tumours. Results No statistically significant differences were found between proliferation index Ki67 values in tumours with recurrence and without (median values 2.5% and 3%, respectively, p = 0.69). The median value of proliferation index Ki67 in progression group was 1% and in the relapse group 4%; no statistical significance between those groups was found (p = 0.067). The median value of proliferation index Ki67 in primary tumours was 3% (0-20%) and in recurrent tumours it was 5% (0-14%). Despite the lack of statistical significance (p = 0.61), a tendency towards higher values of Ki67 in recurring tumours in comparison with primary tumours was shown. Conclusions Proliferation index Ki67 is not a reliable prognostic factor of craniopharyngioma's recurrence.
Introduction:
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial.
Material and methods:
We present two patients with PPNAD confirmed by genetic analysis.
Results:
In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients.
Conclusions:
The novel mutations presented in this article are considered to be pathogenic for PPNAD.
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