619 research outputs found
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
No full textThere is an error in affiliation 9 for author Angela Berardinelli. The correct affiliation is: IRCCS Mondino Foundation, Pavia, Italy
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53 (PLoS ONE (2019) 14:6 (e0218683) DOI: 10.1371/journal.pone.0218683)
No full textThere is an error in affiliation 9 for author Angela Berardinelli. The correct affiliation is: IRCCS Mondino Foundation, Pavia, Italy
Effects of genotype and age on eggshell cuticle coverage and color profile in modern laying hen strains
No full textThe aim of this research was to investigate the effects of laying hen genotype and age on eggshell cuticle deposition. A total of 4,320 brown eggs were obtained from 3 modern hen strains (A, B, and C), currently used worldwide for commercial egg production, at different intervals of age (20–30, 40–50, and 60–70 wk). Four samplings of 120 randomly collected eggs were carried out for each genotype/interval of age. Eggs were individually weighed and cuticle blue staining was used to assess quality and degree of cuticle coverage. On each egg, the eggshell color profile was assessed before and after staining using the CIE L*a*b* system and these values were used to calculate ΔE*ab. A 4-point scale visual score (VS) system was also applied to estimate the degree of cuticle coverage after staining (0 = no coverage, 1 = partial coverage, 2 = total coverage - low degree, 3 = total coverage - high degree). The effects of genotype and age and their interaction on eggshell color attributes were assessed by means of factorial ANOVA, while omnibus Chi-Square and Chi-squared Automatic Interaction Detector algorithm were applied for the analysis of VS data. Overall, both genotype and age affected the eggshell color profile as well as the degree of cuticle coverage. Hen strain A showed better cuticle deposition in comparison with B and particularly C one, being ΔE*ab values significantly higher. The VS evaluation revealed that eggs with impaired cuticle coverage degree increased with the hen age (23, 34, and 37%, respectively for 20–30, 40–50, and 60–70 wk; P < 0.05). However, a significant interaction between genotype and age was observed: transition from early to late hen age resulted in a significantly different pattern of ΔE*ab changes in each genotype. The classification tree analysis confirmed that the hen genotype has a greater effect than the age on cuticle deposition. In conclusion, considering the importance of the cuticle in table egg production, these results highlight the crucial role exerted by the genotype on eggshell cuticle coverage
Telomere Length Maintenance in Cancer: At the Crossroad between Telomerase and Alternative Lengthening of Telomeres (ALT).
No full textEukaryotic cells undergo continuous telomere shortening as a consequence of multiple rounds of replications. During tumorigenesis, cells have to acquire telomere DNA maintenance mechanisms (TMMs) in order to counteract telomere shortening, to preserve telomeres from DNA damage repair systems and to avoid telomere-mediated senescence and/or apoptosis. For this reason, telomere maintenance is an essential step in cancer progression. Most human tumors maintain their telomeres expressing telomerase, whereas a lower but significant proportion activates the alternative lengthening of telomeres (ALT) pathway. However, evidence about the coexistence of ALT and telomerase has been found both in vivo in the same cancer populations and in vitro in engineered cellular models, making the distinction between telomerase- and ALT-positive tumors elusive. Indeed, after the development of drugs able to target telomerase, the capability for some cancer cells to escape death, switching from telomerase to ALT, was highlighted. Unfortunately, to date, the mechanism underlying the possible switching or the coexistence of telomerase and ALT within the same cell or populations is not completely understood and different factors could be involved. In recent years, different studies have tried to shed light on the complex regulation network that controls the transition between the two TMMs, suggesting a role for embryonic cancer origin, epigenetic modifications, and specific genes activation—both in vivo and in vitro. In this review, we examine recent findings about the cancer-associated differential activation of the two known TMMs and the possible factors implicated in this process. Furthermore, some studies on cancers are also described that did not display any TM
Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms
No full textPeer reviewe
The Role of Surgery in Spinal Intradural Metastases from Renal Cell Carcinoma: A Literature Review
No full textBackground: Due to the few reported cases of spinal intradural metastases from renal cell carcinoma (RCC), there is no unanimous consensus on the best treatment strategy, including the role of surgery. Methods: A wide and accurate literature review up to January 2022 has disclosed only 51 cases of spinal intradural metastases from RCC. Patients with extramedullary (19) and those with intramedullary (32) localization have been separately considered and compared. Demographics, clinical, pathological, management, and outcome features have been analyzed. Results: Extramedullary lesions more frequently showed the involvement of the lumbar spine, low back pain, and solitary metastasis at diagnosis. Conversely, the intramedullary lesions were most often detected in association with multiple localizations of disease, mainly in the brain. Surgery resulted in improvement of clinical symptoms in both groups. Conclusion: Several factors affect the prognosis of metastatic RCC. The surgical removal of spinal metastases resulted in pain relief and the arresting of neurological deficit progression, improving the quality of life and overall survival of the patient. Considering the relative radioresistant nature of the RCC, the surgical treatment of the metastasis is a valid option even if it is subtotal, with a consequent increased risk of recurrence, and/or a nerve root should be sacrificed
The multiple facets of atrx protein
No full textATRX gene codifies for a protein member of the SWI-SNF family and was cloned for the first time over 25 years ago as the gene responsible for a rare developmental disorder characterized by α-thalassemia and intellectual disability called ATRX syndrome (Alpha Thalassemia/mental Retardation syndrome X-linked). Since its discovery as a helicase involved in alpha-globin gene transcriptional regulation, our understanding of the multiple roles played by the ATRX protein increased continuously, leading to the recognition of this multifaceted protein as a central “caretaker” of the human genome involved in cancer suppression. In this review, we report recent advances in the comprehension of the ATRX manifold functions that encompasses heterochromatin epigenetic regulation and maintenance, telomere function, replicative stress response, genome stability, and the suppression of endogenous transposable elements and exogenous viral genomes
The importance of updatable analytical screening methods for new psychoactive substances in clinical and forensic toxicology
No full text: The continuous emergence of New Psychoactive Substances enter-ing the illegal markets poses always new challenges to forensic and clinical toxicology laboratories facing the lack of analytical methods capable of determining the newer parent compounds and eventual metabolites. More than 50 new molecules have been reported by the European Monitoring Centre for Drugs and Drug Addiction only in 2021, further expanding the panel of target analytes. However, the implementation of new detection methodologies may not be viable due to time constraints and inadequate resources. To this concern, the updatable analytical screening methods constitute a powerful tool for pharmacotoxicological laboratories investigating both non biological seizure materials and conventional and non conventional matrices coming from intoxications and fatalities of drugs consumers
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