Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumors. Head and neck paragangliomas (HNPGL) can be categorized into carotid body tumors, which are the most common, as well as jugular, tympanic, and vagal paraganglioma. A review of the current literature was conducted to consolidate knowledge concerning PGL mutations, familial occurrence, and the practical application of this information. Available scientific databases were searched using the keywords head and neck paraganglioma and genetics, and 274 articles in PubMed and 1183 in ScienceDirect were found. From these articles, those concerning genetic changes in HNPGLs were selected. The aim of this review is to describe the known genetic changes and their practical applications. We found that the etiology of the tumors in question is based on genetic changes in the form of either germinal or somatic mutations. 40% of PCC and PGL have a predisposing germline mutation (including VHL, SDHB, SDHD, RET, NF1, THEM127, MAX, SDHC, SDHA, SDHAF2, HIF2A, HRAS, KIF1B, PHD2, and FH). Approximately 25–30% of cases are due to somatic mutations, such as RET, VHL, NF1, MAX, and HIF2A. The tumors were divided into three main clusters by the Cancer Genome Atlas (TCGA); namely, the pseudohypoxia group, the Wnt signaling group, and the kinase signaling group. The review also discusses genetic syndromes, epigenetic changes, and new testing technologies such as next-generation sequencing (NGS).
Structural and chemical alterations in living tissue are reflected in electrical impedance changes. However, due to the complexity of skin structure, the relation between electrical parameters and physiological/pathological conditions is difficult to establish. The impedance dispersion reflects the clinical status of the examined skin tissue and, therefore, it is frequently used in a non-invasive evaluation of exposing skin to various factors. The method has been used to assess the effect of the fish collagen on the skin of patients suffering from the leg ulcer. Therefore, from a number of different approaches to skin electrical impedance dispersion, the one considered to be safe was selected and applied. This paper presents a short review of different technical approaches to in vivo electrical impedance measurements, as well as an analysis of the results and the effect of fish collagen locally administered on human skin.
Introduction: Treatment planning in T2, T3 laryngeal carcinoma is based on clinical assessment and radiological imaging. However, to delineate precise mucosal margins for transoral laser microsurgery (TLM), a high class, sophisticated endoscopy is indispensable. Narrowband imaging (NBI) which is an optical filter technology, seems to be a useful adjunctive tool in marking superficial margins. Materials and Methods: A total of 98 patients diagnosed with HNSCC underwent cordectomies and were enrolled in the evaluation. T2 and T3 stage cancer were diagnosed in 90 and 8 patients, respectively. Intraoperatively, prior to the first laser shot, all anatomical sites were endoscopically evaluated by WL and NBI. Results: In 10/98 patients (10.2%), 10 samples were taken based only on NBI findings to guarantee better delineation of superficial margins. The result of histology revealed moderate dysplasia in 4 cases (40%), severe dysplasia in 2 (20%), carcinoma in situ in 3 (30%) and hyperkeratosis in 1 (10%). Based on presented results, combined NBI/WL endoscopy reached the sensitivity of 100%, specificity 98.88%, positive predictive value 90%, negative predictive value 100% and accuracy 98.98%. All patients had clear margins according to definitive histology results. Discussion: In this paper, we aimed to assess the usefulness of NBI in intraoperative imaging of laryngeal mucosa and delineation of superficial margins in patients with selected T2 and T3 laryngeal cancer treated with TLM. We proved in our study that with the support of NBI endoscopy, it is possible to increase the accuracy of superficial resection margins in patients with moderately advanced laryngeal cancer (T2, T3).
Background: Proper body balance is maintained by both sensory, i.e., vision, hearing, vestibular, and proprioception, and motor nervous systems. Visual control facilitates balance both in a static position, as well as during movement. Visual dysfunctions can adversely affect balance and stability control. Methods: The study comprised a group of 30 individuals visually impaired from birth aged 18–24 years. The control group consisted of 50 persons in the same age range as the study group. The trial was performed as four separate tests: two on a stable surface platform, and two on an unstable surface platform. Results: No statistically significant differences were found in the posturography test on the stable platform between the study groups. When tested on an unstable ground surface, the visually impaired subjects obtained showed worse performance than the sighted persons. Statistically significant differences were observed in the majority of the analyzed results. Conclusions: Visually impaired individuals present a poorer ability to maintain balance under dynamic conditions. Tests conducted on the unstable surface platform seem to be more relevant and applicable in the diagnosis of the subjects with visual impairment, as they differentiate the subjects to a greater extent.
Melanotic neuroectodermal tumor of infancy (MNTI) is a rare infantile tumor that originates from mesenchymal-neuroectodermal cells, the treatment of which uses platinum derivatives that can affect hearing loss. The present study evaluated the long-term effects of ototoxicity following chemotherapy with cisplatin, vincristine, cyclophosphamide, teniposide and adriamycin in a 10-year-old patient after surgical removal of a MNTI tumor at the age of 8 months. Audiometric tests (high-frequency tonal audiometry, speech audiometry, speech acoustics, tympanometry and absorbance measurements) were performed during a 10-year follow-up after receiving chemotherapy. Hearing disorders in the high-frequency range (6,000 to 16,000 Hz range) were demonstrated for both ears, indicating that these may be the long-term effects of chemotherapy with use of platinum compounds during the treatment of infants. Case study This case study presents a long-term ototoxic effects after chemotherapy with cisplatin, vincristine, cyclophosphamide, teniposide and adriamycin in a 10-year-old female patient, who was administered this combination of drugs before and after surgical removal of MNTI at the age of 8 months. A female patient aged three months was admitted to the Department of Haematology and Paediatric Oncology of the Karol Jonscher Clinical Hospital in Poznan with a mixed mesenchymal-neuroectodermal MNTI, a solid tumor within the alveolar ridge. Histopathological examination
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