Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome
Artículo Materias > Biomedicina Universidad Europea del Atlántico > Investigación > Artículos y libros Abierto Inglés Papillon–Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients. metadata Hamon, Yveline; Legowska, Monika; Fergelot, Patricia; Dallet-Choisy, Sandrine; Newell, Louise; Vanderlynden, Lise; Kord Valeshabad, Ali; Acrich, Karina; Kord, Hadi; Tsamakis, Charalampos; Morice-Picard, Fanny; Surplice, Ian; Zoidakis, Jerome; David, Karen; Vlahou, Antonia; Ragunatha, Shivanna; Nagy, Nikoletta; Farkas, Katalin; Széll, Márta; Goizet, Cyril; Schacher, Beate; Battino, Maurizio; Al Farraj Aldosari, Abdullah; Wang, Xinwen; Liu, Yang; Marchand-Adam, Sylvain; Lesner, Adam; Kara, Elodie; Korkmaz-Icöz, Sevil; Moss, Celia; Eickholz, Peter; Taieb, Alain; Kavukcu, Salih; Jenne, Dieter E.; Gauthier, Francis y Korkmaz, Brice mail SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, maurizio.battino@uneatlantico.es, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR, SIN ESPECIFICAR (2016) Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS Journal, 283 (3). pp. 498-509. ISSN 1742464X
|
Texto
The FEBS Journal - 2015 - Hamon - Analysis of urinary cathepsin C for diagnosing Papillon Lef vre syndrome.pdf - Versión Publicada Available under License Creative Commons Attribution. Descargar (858kB) | Vista Previa |
Resumen
Papillon–Lefèvre syndrome (PLS) (OMIM: 245000) is a rare disease characterized by severe periodontitis and palmoplantar keratoderma. It is caused by mutations in both alleles of the cathepsin C (CatC) gene CTSC that completely abrogate the proteolytic activity of this cysteine proteinase. Most often, a genetic analysis to enable early and rapid diagnosis of PLS is unaffordable or unavailable. In this study, we tested the hypothesis that active CatC is constitutively excreted and can be easily traced in the urine of normal subjects. If this is true, determining its absence in the urine of patients would be an early, simple, reliable, low-cost and easy diagnostic technique. All 75 urine samples from healthy control subjects (aged 3 months to 80 years) contained proteolytically active CatC and its proform, as revealed by kinetic analysis and immunochemical detection. Of the urine samples of 31 patients with a PLS phenotype, 29 contained neither proteolytically active CatC nor the CatC antigen, so that the PLS diagnosis was confirmed. CatC was detected in the urine of the other two patients, and genetic analysis revealed no loss-of-function mutation in CTSC, indicating that they suffer from a PLS-like condition but not from PLS. Screening for the absence of urinary CatC activity soon after birth and early treatment before the onset of PLS manifestations will help to prevent aggressive periodontitis and loss of many teeth, and should considerably improve the quality of life of PLS patients.
| Tipo de Documento: | Artículo |
|---|---|
| Palabras Clave: | Papillon-Lefèvre syndrome; cathepsin C; diagnostic method; protease; urine analysis. |
| Clasificación temática: | Materias > Biomedicina |
| Divisiones: | Universidad Europea del Atlántico > Investigación > Artículos y libros |
| Depositado: | 17 Mar 2022 23:55 |
| Ultima Modificación: | 17 Mar 2022 23:55 |
| URI: | https://repositorio.uneatlantico.es/id/eprint/579 |
Acciones (logins necesarios)
 |
Ver Objeto |
en
close
Enzymatic treatment shapes in vitro digestion pattern of phenolic compounds in mulberry juice
The health benefits of mulberry fruit are closely associated with its phenolic compounds. However, the effects of enzymatic treatments on the digestion patterns of these compounds in mulberry juice remain largely unknown. This study investigated the impact of pectinase (PE), pectin lyase (PL), and cellulase (CE) on the release of phenolic compounds in whole mulberry juice. The digestion patterns were further evaluated using an in vitro simulated digestion model. The results revealed that PE significantly increased chlorogenic acid content by 77.8 %, PL enhanced cyanidin-3-O-glucoside by 20.5 %, and CE boosted quercetin by 44.5 %. Following in vitro digestion, the phenolic compound levels decreased differently depending on the treatment, while cyanidin-3-O-rutinoside content increased across all groups. In conclusion, the selected enzymes effectively promoted the release of phenolic compounds in mulberry juice. However, during gastrointestinal digestion, the degradation of phenolic compounds surpassed their enhanced release, with effects varying based on the compound's structure.
Peihuan Luo mail , Jian Ai mail , Qiongyao Wang mail , Yihang Lou mail , Zhiwei Liao mail , Francesca Giampieri mail francesca.giampieri@uneatlantico.es, Maurizio Battino mail maurizio.battino@uneatlantico.es, Elwira Sieniawska mail , Weibin Bai mail , Lingmin Tian mail ,
Luo
<a href="/17819/1/1-s2.0-S2214804325000679-main%20%281%29.pdf" class="ep_document_link"><img class="ep_doc_icon" alt="[img]" src="/style/images/fileicons/text.png" border="0"/></a>
en
open
What works in financial education? Experimental evidence on program impact
Financial education is increasingly essential for safeguarding both individual and corporate well-being. This study systematically reviews global financial education experiments using a dual-method framework that integrates a deep learning classifier with advanced multivariate statistical techniques. Our analysis indicates that while short-term improvements in financial literacy are common, such gains tend to diminish over time without ongoing reinforcement. Moreover, the limited impact of digital innovations and monetary incentives suggests that successful financial education depends on more than simply deploying technological solutions or extrinsic rewards. Overall, this review provides valuable insights into the evolving landscape of financial education in a dynamic economic context and underscores the need for sustainable strategies that secure lasting improvements in financial literacy.
Gonzalo Llamosas García mail , Cristina Mazas Pérez-Oleaga mail cristina.mazas@uneatlantico.es,
García
en
close
Epigallocatechin gallate (EGCG) is the most abundant polyphenol in tea. Owing to the different fermentation degrees, differences in polyphenol composition of water extracts of green tea, white tea, oolong tea, and black tea occur, and affect health value. This study revealed that the content of EGCG decreases with the increase in the degree of fermentation. In tea with a high fermentation degree, EGCG was stably present in the form of ammoniation to yield nitrogen-containing EGCG derivative (N-EGCG). The content of N-EGCG in tea was negatively correlated with the content of EGCG. Furthermore, the content of l-serine and L-threonine in tea was positively and negatively correlated with N-EGCG and EGCG levels, respectively, suggesting that they may participate in the formation of N-EGCG as nitrogen sources. This study proposes a new fermentation-induced polyphenol-amino acid synergistic mechanism, which provides a theoretical basis for the study of the biotransformation reaction mechanism of tea polyphenols.
Yuxuan Zhao mail , Jingyimei Liang mail , Wanning Ma mail , Mohamed A. Farag mail , Chunlin Li mail , Jianbo Xiao mail ,
Zhao
<a class="ep_document_link" href="/17849/1/1-s2.0-S2590005625001043-main.pdf"><img class="ep_doc_icon" alt="[img]" src="/style/images/fileicons/text.png" border="0"/></a>
en
open
Ultra Wideband radar-based gait analysis for gender classification using artificial intelligence
Gender classification plays a vital role in various applications, particularly in security and healthcare. While several biometric methods such as facial recognition, voice analysis, activity monitoring, and gait recognition are commonly used, their accuracy and reliability often suffer due to challenges like body part occlusion, high computational costs, and recognition errors. This study investigates gender classification using gait data captured by Ultra-Wideband radar, offering a non-intrusive and occlusion-resilient alternative to traditional biometric methods. A dataset comprising 163 participants was collected, and the radar signals underwent preprocessing, including clutter suppression and peak detection, to isolate meaningful gait cycles. Spectral features extracted from these cycles were transformed using a novel integration of Feedforward Artificial Neural Networks and Random Forests , enhancing discriminative power. Among the models evaluated, the Random Forest classifier demonstrated superior performance, achieving 94.68% accuracy and a cross-validation score of 0.93. The study highlights the effectiveness of Ultra-wideband radar and the proposed transformation framework in advancing robust gender classification.
Adil Ali Saleem mail , Hafeez Ur Rehman Siddiqui mail , Muhammad Amjad Raza mail , Sandra Dudley mail , Julio César Martínez Espinosa mail ulio.martinez@unini.edu.mx, Luis Alonso Dzul López mail luis.dzul@uneatlantico.es, Isabel de la Torre Díez mail ,
Saleem
<a class="ep_document_link" href="/17856/1/fpubh-13-1654645.pdf"><img class="ep_doc_icon" alt="[img]" src="/style/images/fileicons/text.png" border="0"/></a>
en
open
Background: Physical activity in children and adolescents represents one of the most important lifestyle factors to determine current and future health. Aim: The aim of the study is to assess the lifestyle and dietary factors linked to physical activity in younger populations across five countries in the Mediterranean region. Design: A total of 2,011 parents of children and adolescents (age range 6–17 years) participating to a preliminary survey of the DELICIOUS project were investigated to determine children's adequate physical activity level (identified using the short form of the international physical activity questionnaire) as well as diet quality parameters [measured as Youth-Healthy Eating Index (Y-HEI)] and eating and lifestyle factors (i.e., meal habits, sleep duration, screen time, etc.). Logistic regression analyses were performed to assess the odds ratios (ORs) and 95% confidence intervals (CIs) for the associations between variables of interest. Results: Younger children of younger parents currently working had higher rates and probability to have adequate physical activity. Multivariate analysis showed that children and adolescents who had breakfast (OR = 1.88, 95% CI: 1.38, 2.56) and often ate with their family (OR = 1.80, 95% CI: 0.90, 3.61) were more likely to have an adequate level of physical activity. Children and adolescents who reported a sleep duration (8–10 h) closest to the recommended one were significantly more likely to achieve adequate levels of physical activity (OR = 1.88, 95% CI: 1.38, 2.56). Conversely, those with more than 4 h of daily screen time were less likely to engage in adequate physical activity (OR = 0.77, 95% CI: 0.54, 1.10). Furthermore, children and adolescents in the highest tertile of YEHI scores showed a 60% greater likelihood of engaging in adequate physical activity (OR = 1.60, 95% CI: 1.27, 2.01). Conclusion: These results emphasize the importance of promoting healthy diet and lifestyle habits, including structured and high quality shared meals, sufficient sleep, and screen time moderation, as key strategies to support active behaviors in younger populations. Future interventions should focus on reinforcing these behaviors through parental guidance and community-based initiatives to foster lifelong healthy habits.
Alice Rosi mail , Francesca Scazzina mail , Maria Antonieta Touriz Bonifaz mail , Francesca Giampieri mail francesca.giampieri@uneatlantico.es, Achraf Ammar mail , Khaled Trabelsi mail , Osama Abdelkarim mail , Mohamed Aly mail , Evelyn Frias-Toral mail , Juancho Pons mail , Laura Vázquez-Araújo mail , Josep Alemany Iturriaga mail josep.alemany@uneatlantico.es, Lorenzo Monasta mail , Nunzia Decembrino mail , Ana Mata mail , Adrián Chacón mail , Pablo Busó mail , Giuseppe Grosso mail ,
Rosi