Article
Endocrinology & Metabolism
Irene Gagliardi, Mariella Celico, Maria Rita Gamberini, Margherita Pontrelli, Monica Fortini, Aldo Carnevale, Nicola Napoli, Maria Chiara Zatelli, Maria Rosaria Ambrosio
Summary: This study retrospectively evaluated the efficacy and safety of teriparatide (TP) in the treatment of TM-associated osteoporosis in real-life clinical practice. The results showed that TP significantly improved bone mineral density, especially at the lumbar spine, and prevented fractures. However, some patients experienced side effects such as muscle and bone pain.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Article
Biochemistry & Molecular Biology
Fadime Ersoy Dursun, Filiz Ozen
Summary: This study investigates the effects of SMPD1 gene variants on the clinical and laboratory findings in patients with beta-thalassemia major. The results suggest that patients with the SMPD1 gene variant have higher levels of plasma chitotriosidase, ferritin, and liver enzymes, and lower levels of leukocyte acid sphingomyelinase. These findings indicate a similarity between beta-thalassemia major and Niemann-Pick disease, and suggest a potential role of the SMPD1 gene variant in the clinical features of beta-thalassemia major.
MOLECULAR BIOLOGY REPORTS
(2023)
Article
Genetics & Heredity
Guoxing Zhong, Zeyan Zhong, Zhiyang Guan, Dina Chen, Zhiyong Wu, Kunxiang Yang, Dan Chen, Yinyin Liu, Ruofan Xu, Jianhong Chen
Summary: This study reports a case of thalassemia in a 32-year-old male patient, in which a novel gene deletion was identified using multiple detection methods. The results demonstrate the promising potential of TGS technology in thalassemia breakpoint detection and screening for novel gene deletions.
FRONTIERS IN GENETICS
(2022)
Article
Urology & Nephrology
Osama Tanous, Yossi Azulay, Raphael Halevy, Tal Dujovny, Neta Swartz, Raul Colodner, Ariel Koren, Carina Levin
Summary: A high prevalence of renal tubular damage was observed in TDT patients, particularly those treated with DFX; uNAG was negatively associated with mean 10-year serum ferritin, suggesting ICT's involvement in tubular injury. A significant decline in eGFR compared to a decade earlier was observed only in patients currently treated with DFX. Strict follow-up of renal function in TDT patients is warranted.
Article
Public, Environmental & Occupational Health
Runqi Zhang, Shuo Zhang, Jing Ming, Jing Xie, Baoguo Liu, Cuiqian Chen, Xiaojie Sun, Xuemei Zhen
Summary: This study evaluated the quality of life (QoL) and health status utility (HSU) of adult patients with beta-thalassemia major (beta-TM) in mainland China, and found poor QoL and HSU outcomes. The study highlighted the importance of social support and treatment compliance in improving patients' hemoglobin content, reducing comorbidities, and ensuring their QoL.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Hematology
G. Piatti, M. Giuditta, D. Consonni, E. Cassinerio, M. D. Cappellini
Summary: β-Thalassemia patients often have reduced exercise capacity due to muscular deconditioning and decreased cardiac inotropism. Regular physical activity may be beneficial in improving endurance and quality of life.
ANNALS OF HEMATOLOGY
(2022)
Article
Hematology
Dimitrios Patsourakos, Constantina Aggeli, Konstantinos A. Gatzoulis, Sophia Delicou, Yannis Dimitroglou, Katerina Xydaki, Christina Fragodimitri, Aristeidis Androulakis, Konstantinos Tsioufis
Summary: The presence of atrial cardiomyopathy in beta-thalassemia major patients complicates their clinical condition. This study applies novel echocardiographic techniques to increase the diagnostic yield and finds that left atrial strain may be helpful in the early detection of atrial cardiomyopathy. An impaired left atrial strain could identify beta-TM patients with undetected episodes of atrial fibrillation. Left atrial strain may also be useful in myocardial iron load estimation.
ANNALS OF HEMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Hoda A. Ibrahim, Soha S. Zakaria, Manal M. El-Batch, Mohamed R. El-Shanshory, Zahrah R. Alrayes, Ahmed M. Kabel, Samia A. Eldardiry
Summary: This study aimed to investigate the SIRT1-FOXO1 signaling pathway in children with beta-thalassemia major (beta-TM) and its role in early detection of premature atherosclerosis. The results showed that children with beta-TM had higher carotid intima media thickness (CIMT), malondialdehyde (MDA), heat shock protein 72 (HSP72), and forkhead box protein 1 (FOXO1) expression, while they had lower levels of hepcidin, superoxide dismutase (SOD), catalase, and SIRT1 compared to healthy controls. CIMT was positively correlated with MDA, HSP72, and FOXO1 gene expression, and negatively correlated with hepcidin, SOD, catalase, and SIRT1. FOXO1 gene expression and HSP72 levels were found to be the strongest independent determinants of CIMT. These findings suggest that the activation of the FOXO1 signaling pathway and the decrease in SIRT1 levels may play a crucial role in the accelerated atherosclerosis observed in children with beta-TM.
Article
Medicine, General & Internal
Paloma Ropero, Fernando Ataulfo Gonzalez Fernandez, Jorge M. Nieto, Williana Melissa Torres-Jimenez, Celina Benavente
Summary: This study verifies that the diagnosis and clinical grade of beta-thalassemia can be accurately established when a triplication of alpha genes and heterozygous beta-thalassemia coexist. The severity of the HBB gene mutation determines the clinical variation. The genotypes and severity of gene alterations affect the hematological parameters and the need for transfusion therapy.
FRONTIERS IN MEDICINE
(2022)
Article
Dermatology
D. Li, E. Ryu, A. H. Saeidian, L. Youssefian, E. Oliphant, S. F. Terry, P. L. Tong, J. Uitto, N. K. Haass, Q. Li
Summary: Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues, typically caused by mutations in the ABCC6 gene. Cutis laxa (CL) presents with loose and sagging skin. Mutations in the GGCX gene were found to be associated with overlapping PXE/CL skin phenotypes.
BRITISH JOURNAL OF DERMATOLOGY
(2021)
Review
Medicine, General & Internal
Barbara Hauser, Nerea Alonso, Philip L. Riches
Summary: Teriparatide has been shown to effectively reduce vertebral and non-vertebral fractures in post-menopausal and glucocorticoid-induced osteoporosis in clinical trials. The real-world experience of Teriparatide confirms the benefits seen in clinical trials, with similar outcomes observed in male and glucocorticoid-induced osteoporosis. Limited experience has been reported in pre-menopausal osteoporosis or in using Teriparatide in combination with other therapies, and surveillance studies have not found any safety signals relating to Teriparatide and osteosarcoma. Additionally, there is evidence on predicting response to Teriparatide in order to guide its optimal use in therapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Yousef Mohammed Ali Hailan, Gamal Sayed, Mohamed A. Yassin
Summary: Further research is necessary to better understand and manage this unique population in order to increase their chances of normal pregnancy, reduce complications, and achieve more favorable outcomes.
CLINICAL CASE REPORTS
(2021)
Article
Endocrinology & Metabolism
Maria Cristina Campopiano, Antonella Fogli, Angela Michelucci, Laura Mazoni, Antonella Longo, Simona Borsari, Elena Pardi, Elena Benelli, Chiara Sardella, Laura Pierotti, Elisa Dinoi, Claudio Marcocci, Filomena Cetani
Summary: This study reports a case of a 35-year-old Caucasian woman who experienced multiple vertebral fractures after her second pregnancy. Genetic analysis revealed a heterozygous missense mutation in the WNT1 gene. Treatment with teriparatide for two years resulted in an improvement in bone mineral density. This suggests that teriparatide is an effective therapy for individuals with heterozygous WNT1 mutations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Reem Aldwaik, Tamara Abu Mohor, Israa Idyabi, Salam Warasna, Shatha Abdeen, Bashar Karmi, Rania Abu Seir
Summary: Management of beta-thalassemia in the West Bank presents challenges due to the lack of available therapies, leading to recurrent transfusions. Characteristics of patients include anemia, iron overload, and abnormal liver function tests. Iron chelation medication choice is associated with serum ferritin levels, highlighting the need for personalized assessment and follow-up protocols.
FRONTIERS IN MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Davide Schiroli, Lucia Merolle, Eleonora Quartieri, Roberta Chicchi, Tommaso Fasano, Tiziana De Luca, Giuseppe Molinari, Stefano Pulcini, Thelma A. Pertinhez, Erminia Di Bartolomeo, Rino Biguzzi, Roberto Baricchi, Chiara Marraccini
Summary: This study compared two methods for preparing optimal P-RBCs products for beta-thalassemia major patients, finding that method 1 resulted in higher RBC count and Hb content, while method 2 produced P-RBCs with lower levels of K+, iron, and storage lesions markers. Further clinical studies are needed to determine the impact of these differences on transfusion-related complications and the quality of life of beta TM patients.
Article
Endocrinology & Metabolism
Athanasios D. Anastasilakis, Polyzois Makras, Maria Pikilidou, Symeon Tournis, Konstantinos Makris, Ilias Bisbinas, Olga Tsave, John G. Yovos, Maria P. Yavropoulou
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2018)
Article
Endocrinology & Metabolism
Alice Costantini, Symeon Tournis, Anders Kampe, Noor Ul Ain, Fulya Taylan, Artemis Doulgeraki, Outi Makitie
CALCIFIED TISSUE INTERNATIONAL
(2018)
Letter
Endocrinology & Metabolism
Athanasios D. Anastasilakis, Symeon Tournis, Maria P. Yavropoulou, Stergios A. Polyzos, Polyzois Makras
CALCIFIED TISSUE INTERNATIONAL
(2018)
Review
Endocrinology & Metabolism
Christos Savvidis, Symeon Tournis, Anastasia D. Dede
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2018)
Letter
Endocrinology & Metabolism
Symeon Tournis, Spyridon Michopoulos, Konstantinos Makris, Evaggelos Terpos
JOURNAL OF BONE AND MINERAL RESEARCH
(2018)
Article
Endocrinology & Metabolism
Symeon Tournis, Anastasia D. Dede
METABOLISM-CLINICAL AND EXPERIMENTAL
(2018)
Letter
Endocrinology & Metabolism
Symeon Tournis, George Trovas, Ioannis K. Triantafyllopoulos, Alexia P. Balanika
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2019)
Article
Endocrinology & Metabolism
Effimia V. Grigoriou, George Trovas, Nikolaos Papaioannou, Polyzois Makras, Panagiotis Kokkoris, Ismene Dontas, Konstantinos Makris, Symeon Tournis, George V. Dedoussis
ARCHIVES OF OSTEOPOROSIS
(2018)
Article
Endocrinology & Metabolism
Polyzois Makras, Maria P. Yavropoulou, Evanthia Kassi, Athanasios D. Anastasilakis, Andromachi Vryonidou, Symeon Tournis
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2020)
Article
Endocrinology & Metabolism
Athanasios D. Anastasilakis, Stergios A. Polyzos, Polyzois Makras, Georgios Trovas, Maria P. Yavropoulou, Symeon Tournis
Summary: Denosumab discontinuation can lead to rapid bone loss and increased risk of RAVFs. This study investigated BMD changes in postmenopausal women with RAVFs after denosumab discontinuation, finding that various treatments, including antiresorptive and anabolic therapies, were effective in preserving BMD in these patients.
JOURNAL OF CLINICAL DENSITOMETRY
(2021)
Article
Endocrinology & Metabolism
Kalliopi Lampropoulou-Adamidou, Efthymia Karlafti, Chrysoula Argyrou, Konstantinos Makris, George Trovas, Ismene A. Dontas, Symeon Tournis, Ioannis K. Triantafyllopoulos
Summary: The study demonstrates that supplementation with calcium, vitamin D, and CPs can improve trabecular and cortical bone parameters, prevent a decline in aBMD, and decrease bone turnover in postmenopausal women with osteopenia.
JOURNAL OF CLINICAL DENSITOMETRY
(2022)
Review
Medicine, General & Internal
Symeon Tournis, Maria P. Yavropoulou, Stergios A. Polyzos, Artemis Doulgeraki
Summary: Hypophosphatasia (HPP) is a genetic metabolic disease caused by mutations in the TNAP gene, leading to musculoskeletal and systemic symptoms. Clinical presentation varies widely, requiring multidisciplinary management. Treatment ranges from symptomatic care for mild cases to successful enzyme replacement therapy for severe cases.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Alexios Batrakoulis, Athanasios Z. Jamurtas, Dimitrios Draganidis, Kalliopi Georgakouli, Panagiotis Tsimeas, Athanasios Poulios, Niki Syrou, Chariklia K. Deli, Konstantinos Papanikolaou, Symeon Tournis, Ioannis G. Fatouros
Summary: The study found that a 5-month high-intensity hybrid-type neuromuscular training program had positive effects on cardiometabolic health and antioxidant status in inactive overweight and obese women, offering a time-efficient exercise approach.
Article
Endocrinology & Metabolism
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outi Makitie, Alice Costantini
Summary: Mosaicism, caused by AMER1 and RUNX2 gene variants, was identified using whole-genome sequencing in two clinically diagnosed patients with skeletal disorders. This study sheds light on the importance of considering mosaicism in unresolved cases of skeletal dysplasia.
Review
Pharmacology & Pharmacy
Symeon Tournis, Konstantinos Makris, Etienne Cavalier, George Trovas
CURRENT PHARMACEUTICAL DESIGN
(2020)