Review
Health Care Sciences & Services
Zheng Zhang, Meng Gu, Zhongze Gu, Yan-Ru Lou
Summary: Genetic polymorphisms refer to the presence of two or more different alleles in the same locus with a frequency higher than 1%. Long non-coding RNA polymorphisms may serve as biomarkers for predicting cancer patients' response to chemotherapy.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Pharmacology & Pharmacy
Meng Xu, Shuangshuang Wu, Yue Wang, Yundong Zhao, Ximin Wang, Changhong Wei, Xueying Liu, Feng Hao, Cheng Hu
Summary: High-dose methotrexate (HD-MTX) is an effective chemotherapy drug for children with acute lymphoblastic leukemia (ALL), but its toxicity is influenced by gene polymorphisms in the MTX metabolic pathway. The association of SLCO1B1 and ARID5B gene polymorphisms with MTX and MTX-related toxicity has been clearly described and should be evaluated before treatment.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Oncology
Maria Shabbir, Yasmin Badshah, Khushbukhat Khan, Janeen H. Trembley, Areeb Rizwan, Fatima Faraz, Syeda Alveena Shah, Mahrukh Farooqi, Naeem Mahmood Ashraf, Tayyaba Afsar, Ali Almajwal, Nawaf W. Alruwaili, Suhail Razak
Summary: This study identified a positive association of IL-4 -590C/T and CTLA-4 + 49A/G gene polymorphisms with HCV-induced HCC in Pakistan. The findings may serve as genetic markers for HCC.
Article
Environmental Sciences
Lilong Jiang, Yanjun Hong, Pingting Xiao, Xiaoxiao Wang, Jinghui Zhang, Ehu Liu, Huijun Li, Zongwei Cai
Summary: This study demonstrated the critical role of the fecal microbiota in PFOS-induced liver injury in mice and identified several critical bacteria that could protect against liver injury induced by PFOS in male and female mice.
ENVIRONMENTAL HEALTH PERSPECTIVES
(2022)
Article
Pharmacology & Pharmacy
Fang Cheng, Xian-Gao Jiang, Shi-Lin Zheng, Te Wu, Qiang Zhang, Xin-Chun Ye, Saiduo Liu, Ji-Chan Shi
Summary: This study analyzed the correlation between NAT2 genetic polymorphisms and anti-tuberculosis drug-induced liver injury (ATDILI). The results showed that patients with slow acetylation genotypes had higher rates of liver failure and liver injury than those with intermediate and fast acetylation genotypes. Patients with slow acetylation genotypes containing two specific alleles (*6 and *7) had a higher rate of liver failure. The time of liver injury in patients with slow acetylation genotypes was earlier, while the time of liver function recovery in patients with fast acetylation genotypes was shorter.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Environmental Sciences
Amal Saad-Hussein, Wafaa Ghoneim Shousha, Sara Yahya Mohamed Al-Sadek, Shimaa Shawki Ramadan
Summary: This study investigated the role of MTHFR C677T and MTHFR A1298C gene polymorphisms on oxidative stress and homocysteine levels in wastewater treatment plant (WWTP) workers exposed to high lead concentrations. Workers with the TT polymorphism showed higher lead, homocysteine, and malondialdehyde (MDA) levels, and lower total antioxidant capacity (TAC) compared to other polymorphisms. Similar results were found among workers with the CC polymorphism. These gene polymorphisms can be used to predict the susceptibility to kidney impairments caused by high lead exposure among WWTP workers in the sludge departments.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Article
Oncology
Ankan Bandyopadhyay, Siddharth Sharma, Digambar Behera, Navneet Singh
Summary: The study aimed to assess the prevalence of UGT1A1 polymorphisms and their association with clinical outcomes in North Indian patients with SCLC on CPT11-CTx. Results showed that UGT1A1*6 and UGT1A1*28 polymorphisms were associated with increased gastrointestinal toxicity and improved overall survival, respectively.
Article
Biochemistry & Molecular Biology
Pierluigi Ramadori, Marius Maximilian Woitok, Olga Estevez-Vazquez, Raquel Benede-Ubieto, Hector Leal-Lassalle, Arantza Lamas-Paz, Feifei Guo, Jeanne Fabre, Julia Otto, Anna Verwaayen, Johanna Reissing, Tony Bruns, Stephanie Erschfeld, Ute Haas, Daniela Paffen, Leonard J. Nelson, Javier Vaquero, Rafael Banares, Christian Trautwein, Francisco Javier Cubero, Christian Liedtke, Yulia A. Nevzorova
Summary: Cyclin E1 plays a crucial role in liver fibrosis and hepatocarcinogenesis. The study investigated its role in alcohol-associated liver disease (ALD). The results showed that the lack of Cyclin E1 in hepatocytes worsens liver damage and leads to body weight loss.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Multidisciplinary Sciences
Yanmei Ruan, Jinwei Zhang, Shiqi Mai, Wenfeng Zeng, Lili Huang, Chunrong Gu, Keping Liu, Yuying Ma, Zhi Wang
Summary: Genetic factors and gene-environment interaction play an important role in the development of noise induced hearing loss (NIHL). Certain genetic polymorphisms in the CASP7 gene are associated with increased risk of NIHL, while some genotypes can reduce the risk. Workers carrying high-risk genotypes are at a higher risk of developing NIHL.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Haiyan Zhuo, Jinhai Fan, Bifeng Zhang, Yixian Shi, Liqing Zheng, Yihong Chai, Lvfeng Yao
Summary: Genetic variations in UGT1A1 gene are associated with lithogenic risk factor for gallstone formation. This study reveals that UGT1A1*27 and UGT1A1*28 variants are significantly increased in patients with gallstone-related hepatic failure and HBV infection compared to healthy individuals.
Article
Multidisciplinary Sciences
Sangsoo Lim, Youngkuk Kim, Jeonghyeon Gu, Sunho Lee, Wonseok Shin, Sun Kim
Summary: Drug-induced liver injury (DILI) is a major cause of drug failure in clinical trials. Traditional machine learning approaches and emerging deep graph neural network (GNN) models have limited success in predicting DILI. In this study, a new approach called supervised subgraph mining (SSM) was developed, which outperformed previous methods in classifying DILI on two different datasets. Subgraph features were also associated with drugs' ATC code using structural pattern matching.
Review
Environmental Sciences
Tong Li, Xinting Fan, Meihan Cai, Yuanyuan Jiang, Yaqi Wang, Peishuang He, Juan Ni, Aili Mo, Cuiying Peng, Jun Liu
Summary: This review systematically summarizes the toxic effects and mechanisms of MCs on the liver and discusses the combined liver toxicity effects of MCs and other pollutants to provide reference for subsequent research. Future research can focus on the toxicity of different MC isomers, the detection methods and limit standards of MCs in agricultural and aquatic products, standard protocols for fish sampling during harmful algal blooms, and the application of bioinformatics in MC toxicology research and potential drug development.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Biochemistry & Molecular Biology
Zineb Aoullay, Andrew Smith, Meriem Slaoui, Ihssane El Bouchikhi, Hassan Ghazal, Najib Al Idrissi, Bouchra Meddah, Kara L. L. Lynch, Yahia Cherrah, Alan H. B. Wu
Summary: This study evaluated the correlation between genetic polymorphisms of UGT1A1 and ABCC2 with different toxicities associated with irinotecan treatment. The results showed that the ABCC2-1549 AA genotype is more frequently associated with grades III/IV of nausea in colorectal cancer patients (83.3% p = 0.004), while the ABCC2 1249 GG genotype is significantly associated with the absence of grades III-IV diarrhea in pancreatic cancer patients.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2023)
Review
Medicine, Research & Experimental
Ramkumar Katturajan, Sabina Evan Prince
Summary: Drug-induced organ toxicity can lead to cell death and organ failure, with misregulation of connexin proteins, particularly Cx43, impacting processes such as cell differentiation, inflammation, and cell death. Recent research indicates that Cx43 is involved in various toxicity processes, including disorders in the liver, kidneys, and gastrointestinal tract, and therapies targeting Cx43 are currently undergoing clinical trials.
Review
Genetics & Heredity
Sailan Xiao, Xiongfeng Pan, Xun Huang, Yamin Liu, Shi Wu Wen, Aizhong Liu
Summary: This study comprehensively summarized the association between gene polymorphisms of inflammatory factors and liver cirrhosis through a systematic review. The results showed that IL-10 -1082G/A, IL-18 -137G/C, TGF-b1 -509T/C, and IFN-? +874T/A were significantly associated with the risk of liver cirrhosis. These findings provide comprehensive evidence for the genetic susceptibility and immunogenetic pathology of liver cirrhosis.
FRONTIERS IN GENETICS
(2023)
Article
Endocrinology & Metabolism
W. Vena, F. Carrone, A. Delbarba, O. Akpojiyovbi, L. C. Pezzaioli, P. Facondo, C. Cappelli, L. Leonardi, L. Balzarini, D. Farina, A. Pizzocaro, A. G. Lania, G. Mazziotti, A. Ferlin
Summary: This study evaluated the associations between body composition parameters, vertebral fractures, and trabecular bone score in adult males with Klinefelter syndrome. The results suggest that body composition may influence bone quality and the risk of vertebral fractures in individuals with Klinefelter syndrome.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Correction
Endocrinology & Metabolism
R. M. Ruggeri, E. Benevento, F. De Cicco, B. Fazzalari, E. Guadagno, I. Hasballa, M. G. Tarsitano, A. M. Isidori, A. Colao, A. Faggiano, I Aini, I Aini, M. Albertelli, Y. Alessi, B. Altieri, S. Antonini, L. Barrea, F. Birtolo, F. Campolo, G. Cannavale, C. Cantone, S. Carra, R. Centello, A. Cozzolino, S. Molfetta, V. Vito, G. Fanciulli, T. Feola, F. Ferrau, S. Gay, E. Giannetta, F. Grillo, E. Grossrubatscher, V Guarnotta, A. Salvia, A. Laffi, A. Lania, A. Liccardi, P. Malandrino, R. Mazzilli, E. Messina, N. Mikovic, R. Minotta, R. Modica, G. Muscogiuri, C. Pandozzi, G. Pugliese, G. Puliani, A. Ragni, M. Rubino, F. Russo, F. Sesti, L. Verde, A. Veresani, C. Vetrani, G. Vitale, V Zamponi, I Zanata
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Endocrinology & Metabolism
M. F. Birtolo, W. Vena, A. Pizzocaro, E. Lavezzi, A. Brunetti, S. Jaafar, N. Betella, A. C. Bossi, G. Mazziotti, A. G. Lania
Summary: This study investigated the relationship between serum testosterone levels and outcomes of COVID-19 in a large cohort of female patients. The results showed that high testosterone levels were associated with higher inflammatory markers and worse course of COVID-19, although this association disappeared after correcting for inflammatory parameters.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Medicine, General & Internal
Alessandro Maria Berton, Nunzia Prencipe, Luca Bertero, Marco Baldi, Chiara Bima, Marina Corsico, Antonio Bianchi, Giovanna Mantovani, Francesco Ferrau, Paola Sartorato, Irene Gagliardi, Ezio Ghigo, Silvia Grottoli
Summary: This multicenter retrospective study aimed to identify the most relevant biomarkers specific for the Italian acromegaly population. The results showed that a low-grade SSTR2 expression was the most relevant predictor of resistance to first-generation somatostatin receptor ligands, followed by a SG/intermediate cytokeratin pattern and a T2-iso/hyperintense MRI signal.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Sara Piccini, Giuseppe Favacchio, Cristina Panico, Emanuela Morenghi, Franco Folli, Gherardo Mazziotti, Andrea Gerardo Lania, Marco Mirani
Summary: A retrospective cohort study explored the determinants of cardiovascular protection in a real-world population of type 2 diabetes patients using GLP-1 RA treatment. The findings revealed that discontinuation of GLP-1 RA treatment increased the risk of cardiovascular events.
CARDIOVASCULAR DIABETOLOGY
(2023)
Article
Endocrinology & Metabolism
Giulia Del Sindaco, Jugurtha Berkenou, Angela Pagnano, Anya Rothenbuhler, Maura Arosio, Giovanna Mantovani, Agnes Linglart
Summary: This study analyzed a large cohort of 136 iPPSD/PHP patients, and found that 36% of patients experienced at least one neonatal complication, with the rate reaching 47% for iPPSD2/PHP1A patients. Neonatal complications were associated with earlier resistance to thyroid-stimulating hormone and the development of neurocognitive impairment and constipation later in life. Therefore, specific care and attention should be provided at birth for iPPSD/PHP, especially iPPSD2/PHP1A, newborns.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Endocrinology & Metabolism
L. Cianferotti, C. Cipriani, S. Corbetta, G. Corona, G. Defeudis, A. G. Lania, C. Messina, N. Napoli, G. Mazziotti
Summary: Endocrine diseases can lead to osteoporosis and fractures, but traditional bone density measurement methods may not accurately capture skeletal alterations caused by endocrine disorders. Therefore, it is important to use new techniques to assess bone quality for the diagnosis and prediction of skeletal fragility and fracture risk.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Martina Sollini, Margarita Kirienko, Luca di Tommaso, Cristiano Pini, Fabrizia Gelardi, Salvatore Ariano, Andrea Gerardo Lania, Gherardo Mazziotti, Giuseppe Mercante, Arturo Chiti
Summary: This study investigated the potential role of Prostate Specific Membrane Antigen (PSMA) in thyroid carcinoma (TC) and found that PSMA expression and 2-[F-18]fluoro-2-deoxy-D-glucose ([F-18]FDG) uptake on PET/CT can serve as complementary biomarkers for TC outcome prediction.
Review
Biochemistry & Molecular Biology
Maria Francesca Birtolo, Simone Antonini, Andrea Saladino, Benedetta Zampetti, Elisabetta Lavezzi, Iacopo Chiodini, Gherardo Mazziotti, Andrea G. A. Lania, Renato Cozzi
Summary: Secondary Adrenal Insufficiency (SAI) is a condition characterized by low ACTH secretion due to hypothalamus or pituitary disease or injury. The evaluation of SAI is challenging due to non-specific symptoms, rarity, and pitfalls associated with laboratory tests. The gold standard test for assessing the HPA axis is the insulin tolerance test, but the ACTH stimulation test is safer and well-tolerated, although its diagnostic accuracy varies.
Article
Endocrinology & Metabolism
Morelli Valentina, Elli Francesca Marta, Frigerio Sofia, Vena Walter, Palmieri Serena, Lucca Camilla, Maffini Maria Antonia, Contarino Andrea, Bagnaresi Francesca, Mantovani Giovanna, Arosio Maura
Summary: This study aimed to evaluate the prevalence of ARMC5 genetic defects in patients with bilateral adrenal incidentaloma (BAI) and explore the possible genotype-phenotype correlations. The results showed that the prevalence of germline ARMC5 pathogenic variants was 18.8% in BAI patients with mild autonomous cortisol secretion (MACS+). Somatic ARMC5 pathogenic variants were also found in adrenal tissue of patients without germline ARMC5 variants, indicating their involvement in adrenal tumor development.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Hanna Ludar, Yael Levy-Shraga, Osnat Admoni, Hussein Majdoub, Kineret Mazor Aronovitch, Ilana Koren, Shoshana Rath, Ghadir Elias-assad, Shlomo Almashanu, Giovanna Mantovani, Orit Pinhas Hamiel, Yardena Tenenbaum-Rakover
Summary: This study retrospectively investigated all patients diagnosed with pseudohypoparathyroidism type IA (PHPIA) in two referral centers in Israel and found that 9 patients had genetically confirmed GNAS mutations. Long-term follow-up is warranted for newborns with a combination of congenital hypothyroidism, early-onset obesity, and minor dysmorphic features associated with PHPIA, as the complete clinical phenotype may develop a long time after initial presentation.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Francesco Ferrau, Salvatore Giovinazzo, Ylenia Alessi, Antonino Catalano, Agostino Tessitore, Enrico Mormina, Federica Bellone, Giuseppe Giuffrida, Giuseppe Paola, Oana Ruxandra Cotta, Marta Ragonese, Francesca Granata, Andrea G. Lania, Gherardo Mazziotti, Salvatore Cannavo
Summary: This study found that patients with endogenous Cushing's syndrome have alterations in bone density and bone marrow fat that are associated with increased risk of vertebral fractures. Among these parameters, trabecular bone score and bone mineral density were found to be more accurate predictors of fracture risk.
Article
Endocrinology & Metabolism
Giorgia Dito, Marina Lugaresi, Chiara Degradi, Gregorio Guabello, Matteo Longhi, Sabrina Corbetta
Summary: This study compared the efficacy of two different sequential treatment strategies (TPT + ZOL and TPT + Dmab) in severe osteoporotic patients. The results showed that both treatment strategies had similar effects in increasing bone density at the lumbar and hip levels, as well as reducing the risk of fracture.
Article
Endocrinology & Metabolism
Maria Francesca Birtolo, Simone Antonini, Andrea G. Lania, Gherardo Mazziotti
Summary: Skeletal fragility and vertebral fractures are common complications of growth hormone hypersecretion in acromegalic subjects. The coexistence of spine arthropathy further negatively impacts the quality of life for these patients. Managing these complications can be challenging even after controlling the disease biochemically. This article provides an analysis of the pathophysiological links between vertebral fractures and spine arthropathy in active and controlled acromegaly, as well as the diagnostic and therapeutic aspects of managing acromegalic osteo-arthropathy.