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Context: Genetic analysis of sporadic medullary thyroid carcinoma (MTC) has revealed somatic variants in RET , RAS , and occasionally other genes. However, around 20% of patients with sporadic MTC lack a known genetic driver., Objective: To uncover potential new somatic or germline drivers, we analyze a distinct cohort of patients with sporadic, very early-onset, and aggressive MTC., Methods: Germline and somatic DNA exome sequencing was performed in 19 patients, previously tested negative for germline RET variants., Results: Exome sequencing of 19 germline samples confirmed the absence of RET and identified an NF1 pathogenic variant in 1 patient. Somatic sequencing was successful in 15 tumors revealing RET variants in 80%, predominantly p.Met918Thr, which was associated with disease aggressiveness. In RET -negative tumors, pathogenic variants were found in HRAS and NF1 . The NF1 germline and somatic variants were observed in a patient without a prior clinical diagnosis of neurofibromatosis type 1, demonstrating that the loss of heterozygosity of NF1 functions as a potential MTC driver. Somatic copy number alterations analysis revealed chromosomal alterations in 53.3% of tumors, predominantly in RET -positive cases, with losses in chromosomes 9 and 22 being the most prevalent., Conclusion: This study reveals that within a cohort of early-onset nonhereditary MTC, RET remains the major driver gene. In RET -negative tumors, NF1 and RAS are drivers of sporadic MTC. In addition, in young patients without a RET germline mutation, a careful clinical evaluation with a consideration of germline NF1 gene analysis is ideal to exclude Neurofibromatosis type 1 (NF1)., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.)

Robust machine learning models based on radiomic features might allow for accurate diagnosis, prognosis, and medical decision-making. Unfortunately, the lack of standardized radiomic feature extraction has hampered their clinical use. Since the radiomic features tend to be affected by low voxel statistics in regions of interest, increasing the sample size would improve their robustness in clinical studies. Therefore, we propose a Generative Adversarial Network (GAN)-based lesion-focused framework for Computed Tomography (CT) image Super-Resolution (SR); for the lesion (i.e., cancer) patch-focused training, we incorporate Spatial Pyramid Pooling (SPP) into GAN-Constrained by the Identical, Residual, and Cycle Learning Ensemble (GAN-CIRCLE). At [Formula: see text] SR, the proposed model achieved better perceptual quality with less blurring than the other considered state-of-the-art SR methods, while producing comparable results at [Formula: see text] SR. We also evaluated the robustness of our model's radiomic feature in terms of quantization on a different lung cancer CT dataset using Principal Component Analysis (PCA). Intriguingly, the most important radiomic features in our PCA-based analysis were the most robust features extracted on the GAN-super-resolved images. These achievements pave the way for the application of GAN-based image Super-Resolution techniques for studies of radiomics for robust biomarker discovery., (© 2021. The Author(s).)

Background: To analyze biochemical and microbiological parameters of the saliva of institutionalized elders and to investigate the relation of these parameters with edentulism, use of dentures and presence of biofilm., Material and Methods: A cross-sectional study carried was out in seven long-term institutions. Samples (n=161) of unstimulated saliva were collected for analysis of salivary flow, quantification of total proteins and identification of microorganisms. Oral examination was carried out to verify the number of missing teeth, the use of dentures and the presence of visible biofilm on the surface of teeth and dentures. Associations were performed using chi-square or Fisher's exact test (α<0.05). Mann-Whitney Test was used to identify differences in the salivary flow and total proteins (α<0.05)., Results: There was no association between the type of edentulism and use of dentures with biochemical and microbiological parameters of saliva ( p >0.05). Associations were observed between the presence of dentures biofilm and the colonization of Streptococcus sp. ( p =0.038) and Candida sp. ( p =0.03)., Conclusions: The absence of teeth and use of dentures do not influence the amount of total proteins and the microorganisms count in saliva. Denture biofilms are associated with the presence of Streptococcus sp. and Candida sp. in saliva of institutionalized elders. Key words: Candida, long-stay institutions for elders, saliva, Streptococcus, Staphylococcus., Competing Interests: Conflicts of interest There was no conflict of interests in this study., (Copyright: © 2020 Medicina Oral S.L.)

Scarce data are available on the quality of life and psychosocial distress of patients with multiple endocrine neoplasia type 2 (MEN2), a genetic cancer syndrome caused by RET germline mutations. Carriers of RET mutations can face several challenges, including fear for the future, guilt for transmission of a germline mutation to an offspring, side effects of cancer treatment, coping behaviors in the face of a chronic and frequently incurable cancer, and difficulties in access to adequate health care. We have addressed the effects of genetic testing on the quality of life of patients with MEN2 and the lifelong physical and psychosocial challenges experienced by these patients. We have also suggested strategies to minimize the burden of living with this chronic condition and the perspectives on future studies to improve the health-related quality of life of the patients.

Red tilapia has aroused interest in many countries for its commercial potential. This tilapia strain combines a desirable coloration and appearance with other advantageous farming characteristics. To study the early appearance of melanophore pigmentation in tilapia, a red tilapia strain originating from Thailand and a wild type coloration of Oreochromis niloticus were used as broodstock to produce artificially wild x wild and red x red progenies. The larvae were assessed periodically up to the first feeding and were recorded. Wild type fish showed a regular appearance of stellate melanophores. In the red strain, the pattern of chromatophores varies from total absence of black spotting to different degrees of macromelanophore distribution. Comparison between red and wild types showed that these two tilapia can be easily scored at day 7. Further, we present indications that the pigmentation over the body develops independently of the initial degree of pigmentation.

The classical sulfuric acid method for the histochemical detection of carotenoids has been adapted to give a reliable cytological localization of these compounds in fish chromatophores. This procedure consists mainly in fixing skin fragments in glutaraldehyde and dehydrating in a 50% solution of glycerin followed by exposure to air. It is essential that the preparation permit direct contact of the sulfuric acid with the pigment cells. Under these conditions, carotenoid containing cells stain green or blue. When associated with the extraction of the carotenoids by acetone, the procedure permits the distinction between pterin and carotenoid in fish chromatophores.