Review
Biochemistry & Molecular Biology
Yasuyo Ohguchi, Hiroto Ohguchi
Summary: Recent studies using next-generation sequencing have identified genetic aberrations, such as DIS3 mutations and deletion of chromosome 13, in multiple myeloma (MM) patients. However, the impact of these genetic abnormalities on MM pathogenesis is still unclear. This article summarizes the molecular and physiological functions of DIS3, focusing on hematopoiesis, and discusses the characteristics and potential roles of DIS3 mutations in MM. Recent findings suggest that reduced DIS3 activity may contribute to myelomagenesis by increasing genome instability.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Niyati Seshagiri Sharma, Bibha Choudhary
Summary: Multiple myeloma is an incurable blood disease characterized by abnormal immunoglobulin production. The development of drug resistance in MM cells is due to various mutations and structural abnormalities, as well as a favorable microenvironment and immune suppression. The bone marrow microenvironment plays a crucial role in MM development, and advanced immune profiling techniques have provided insights into the specific immune cell fractions involved. This review discusses the role of bone marrow microenvironment components in MM development and ongoing clinical trials using immunotherapeutic approaches.
Article
Medicine, General & Internal
Carolina Chaves, Tiago Nunes da Silva, Bernardo Dias Pereira, Joao Anselmo, Isabel Claro, Branca M. Cavaco, Ana Saramago, Valeriano Leite
Summary: MEN1 is a familial syndrome caused by disruption of the MENIN tumor suppressor protein, leading to challenges in management due to its effects on various endocrine tissues and predisposition to tumors. This case presented a patient with multiple endocrine and autoimmune disorders, underwent surgical interventions and long-term familial genetic screening, resulting in stable outcomes during a 24-year follow-up period. The interplay between MENIN and the immune system highlighted in this case may have implications for future targeted surveillance and treatment of MEN1 patients.
Article
Multidisciplinary Sciences
Ram Ajore, Abhishek Niroula, Maroulio Pertesi, Caterina Cafaro, Malte Thodberg, Molly Went, Erik L. Bao, Laura Duran-Lozano, Aitzkoa Lopez de Lapuente Portilla, Thorunn Olafsdottir, Nerea Ugidos-Damboriena, Olafur Magnusson, Mehmet Samur, Caleb A. Lareau, Gisli H. Halldorsson, Gudmar Thorleifsson, Gudmundur L. Norddahl, Kristbjorg Gunnarsdottir, Asta Foersti, Hartmut Goldschmidt, Kari Hemminki, Frits van Rhee, Scott Kimber, Adam S. Sperling, Martin Kaiser, Kenneth Anderson, Ingileif Jonsdottir, Nikhil Munshi, Thorunn Rafnar, Anders Waage, Niels Weinhold, Unnur Thorsteinsdottir, Vijay G. Sankaran, Kari Stefansson, Richard Houlston, Bjorn Nilsson
Summary: This integrative study investigates over a thousand variants associated with multiple myeloma, identifying potential causal variants at six risk loci and highlighting the role of gene-regulatory changes in plasma cells and B-cells in mediating disease susceptibility.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Ram Ajore, Abhishek Niroula, Maroulio Pertesi, Caterina Cafaro, Malte Thodberg, Molly Went, Erik L. Bao, Laura Duran-Lozano, Aitzkoa Lopez de Lapuente Portilla, Thorunn Olafsdottir, Nerea Ugidos-Damboriena, Olafur Magnusson, Mehmet Samur, Caleb A. Lareau, Gisli H. Halldorsson, Gudmar Thorleifsson, Gudmundur L. Norddahl, Kristbjorg Gunnarsdottir, Asta Forsti, Hartmut Goldschmidt, Kari Hemminki, Frits van Rhee, Scott Kimber, Adam S. Sperling, Martin Kaiser, Kenneth Anderson, Ingileif Jonsdottir, Nikhil Munshi, Thorunn Rafnar, Anders Waage, Niels Weinhold, Unnur Thorsteinsdottir, Vijay G. Sankaran, Kari Stefansson, Richard Houlston, Bjorn Nilsson
Summary: In this study, non-coding variants associated with multiple myeloma (MM) were investigated using a combination of methods. The results showed that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identified potential causal variants at six risk loci. Three of these variants were found to have causal activity at specific genomic positions in an endogenous chromosomal context in vivo. This study provides a systematic functional analysis of risk loci for a hematologic malignancy.
NATURE COMMUNICATIONS
(2022)
Article
Endocrinology & Metabolism
Kris Gustave Poppe, Laura Frommer, Burak Hatun, Candice Autin, Fleur Wolff, George Jean Kahaly
Summary: Women with thyroid autoimmunity (TAI) undergoing assisted reproductive technology (ART) treatment are at higher risk of miscarriage, possibly due to the presence of thyrotropin receptor antibodies (TSH-R-Ab) that hinder corpus luteum development. This pilot study measured both binding and functional TSH-R-Ab using five different assays in women with TAI and one without TAI before and after ovarian stimulation (OS) during ART. Results showed that TSH-R-Ab levels were below the cut-off for all assays and four bioassays.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Oncology
Cong Deng, Chaozeng Si, Xu Ye, Qiang Zhou, Tiansheng Zeng, Zeyong Huang, Wenhui Huang, Pei Zhu, Qingfu Zhong, Zhihua Wu, Huoyan Zhu, Qing Lin, Wenjuan Zhang, Lin Fu, Yongjiang Zheng, Tingting Qian
Summary: The study demonstrated that FSCN1 was significantly down-regulated in MM and high expression of FSCN1 and FSCN2 were associated with longer overall survival (OS) in MM patients. FSCN1 and FSCN2 could serve as favorable prognostic factors for predicting clinical outcomes in MM, and their combination could effectively predict longer event-free survival (EFS) and OS.
Review
Pharmacology & Pharmacy
Manon Lernoux, Michael Schnekenburger, Mario Dicato, Marc Diederich
Summary: Multiple myeloma is a biologically complex hematological disorder that is currently incurable. Survival of MM molecular subgroups depends on the expression profiles of specific subsets of anti-apoptotic BCL-2 family members. The use of BCL-2 family protein inhibitors as potential treatments represents a strong rationale for further clinical investigation in MM therapy.
BIOCHEMICAL PHARMACOLOGY
(2021)
Review
Oncology
Francesco Maura, Ola Landgren, Gareth J. Morgan
Summary: Advancements in next-generation sequencing technology have allowed for a better understanding of the genetic landscape of multiple myeloma, including drivers and evolutionary processes. This new knowledge can be utilized in clinical settings to improve therapeutic interventions at various disease stages.
CLINICAL CANCER RESEARCH
(2021)
Letter
Oncology
Fumou Sun, Yan Cheng, Jesse D. Riordan, Adam Dupuy, Wendy Dubois, Michael Pisano, Jing Dong, Beverly Mock, Fenghuang Zhan, Parameswaran Hari, Siegfried Janz
Summary: The study utilized unbiased genetic forward screening in a genetically engineered mouse model of multiple myeloma to discover two novel myeloma genes: WDR26 and MTF2. These findings suggest that WDR26-CTLH and MTF2-PRC2 could be promising molecular targets for new approaches to myeloma treatment and prevention.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Article
Endocrinology & Metabolism
Guia Vannucchi, Luca Persani, Laura Fugazzola
Summary: The relationship between thyroid state and female fertility is of great interest to clinicians and researchers worldwide. Studies have shown a potential role of thyroid conditions in relation to ovarian function and fertility, but there is still much to be understood in this area.
ANNALES D ENDOCRINOLOGIE
(2022)
Article
Endocrinology & Metabolism
Yanshi Ye, Ye Li, Qintao Ma, Ying Li, Huixian Zeng, Yaosheng Luo, Yongqian Liang, Lan Liu, Lingling Liu, Xu Lin, Genfeng Yu, Cheng Song, Heng Wan, Jie Shen
Summary: This study investigated the association between thyroid function and other elements. It found that copper and zinc levels were related to thyroid stimulating hormone (TSH) levels, iron and copper levels were associated with free triiodothyronine (FT3) and free thyroxine (FT4) levels respectively, and manganese was negatively correlated with thyrotropin T4 resistance index (TT4RI) while zinc was positively correlated. It suggests that patients with thyroid disorders should measure these important elements.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Yun Xu, Hui Chen, Meng Ren, Yu Gao, Kan Sun, Hongshi Wu, Rui Ding, Junhui Wang, Zheqing Li, Dan Liu, Zilian Wang, Li Yan
Summary: This study investigated the association and dose-dependent effect of thyroid autoimmunity (TAI) with multiple maternal and fetal-neonatal complications. The results showed that TAI was independently associated with pregnancy-induced hypertension, gestational diabetes mellitus, neonatal lower birthweight, and admission to NICU. Furthermore, a dose-dependent association was found between TPOAb and pregnancy-induced hypertension, and between TGAb and pregnancy-induced hypertension, small for gestational age, and NICU admission.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Oncology
Christin B. DeStefano, Steven J. Gibson, Adam S. Sperling, Paul G. Richardson, Irene Ghobrial, Clifton C. Mo
Summary: Multiple myeloma is the second most common hematologic malignancy in the United States. The presence of clonal hematopoiesis (CH) in MM patients has been associated with inferior survival and increased risk of disease progression. Further research is needed to understand the prognostic and therapeutic significance of CH in MM patients, as well as the impact of specific treatments on long-term outcomes.
SEMINARS IN ONCOLOGY
(2022)
Review
Hematology
Jeremy Meier, Jeffrey L. Jensen, Christopher Dittus, Catherine C. Coombs, Samuel Rubinstein
Summary: Clonal hematopoiesis is common in patients with blood cancers, correlated with inflammation, and can impact lymphoma and multiple myeloma through various mechanisms.
Review
Biochemistry & Molecular Biology
Natalia Vallianou, Gerasimos Socrates Christodoulatos, Irene Karampela, Dimitrios Tsilingiris, Faidon Magkos, Theodora Stratigou, Dimitris Kounatidis, Maria Dalamaga
Summary: Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide, often starting as a benign liver fat accumulation that can progress to non-alcoholic steatohepatitis (NASH) and increase the risk of cirrhosis and hepatocellular carcinoma (HCC). Recent studies have highlighted the role of gut dysbiosis, which can lead to increased gut permeability and the release of toxic bacterial products and proinflammatory cytokines, causing and sustaining inflammation. The composition of the gut microbiota and various metabolites may vary during different stages of NAFLD and among population groups, and further research is needed to determine the causal relationship between gut microbiota profiles and NAFLD in patients. Additionally, multiple metabolites may contribute to the pathogenesis of NAFLD.
Letter
Dermatology
Vasiliki Gkanti, Maria Dalamaga, Evangelia Papadavid
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2023)
Letter
Dermatology
Maria Dalamaga, Dimitrios Tsilingiris, Alexandros Katoulis
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Review
Oncology
Christian Sumeghy Sondergaard, Paulina Nunez Esquivel, Maria Dalamaga, Faidon Magkos
Summary: Diabetes patients may have an altered risk of cancer when using antihyperglycemic medications. Certain medications are associated with a lower risk of cancer, while others may increase the risk.
CURRENT ONCOLOGY REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Ludovica Verde, Maria Dalamaga, Xavier Capo, Giuseppe Annunziata, Maria Hassapidou, Annamaria Docimo, Silvia Savastano, Annamaria Colao, Giovanna Muscogiuri, Luigi Barrea
Summary: High adherence to the Mediterranean diet (MD) leads to better results in the very low-calorie ketogenic diet (VLCKD), possibly due to the antioxidant and anti-inflammatory properties of the MD, which create a metabolic state favorable for more effective ketosis.
Review
Nutrition & Dietetics
Aikaterini Rokou, Anna Eleftheriou, Christina Tsigalou, Ioulianos Apessos, Evangelia Nena, Maria Dalamaga, Athanasios Voulgaris, Paschalis Steiropoulos
Summary: This systematic review examines the role of a structured diet management plan on the severity of OSA, nocturnal oxygen indices, and subjective sleep parameters. The review found that a dietary management plan delivered through an educational program can reduce the severity of OSA and improve nocturnal oxygenation and subjective sleep parameters.
CURRENT NUTRITION REPORTS
(2023)
Article
Dermatology
Katerina Vlami, Kleoniki Pantelidi, Maria Dalamaga, Fani Karagianni, Konstantinos Theodoropoulos, Spyridon Papiris, Evangelia Papadavid
Summary: This study aimed to investigate the impact of psoriasis on patients' sleep. It found that 91% of psoriatic patients had poor sleep quality, with 65.2% experiencing insomnia symptoms. Patients also had worse sleep efficiency and shorter total sleep time compared to controls. After 6 months of systemic treatment, psoriatic patients showed improved sleep quality and fewer insomnia symptoms.
ACTA DERMATO-VENEREOLOGICA
(2023)
Review
Biochemistry & Molecular Biology
Natalia G. Vallianou, Dimitris Kounatidis, Dimitrios Tsilingiris, Fotis Panagopoulos, Gerasimos Socrates Christodoulatos, Angelos Evangelopoulos, Irene Karampela, Maria Dalamaga
Summary: Obesity and obesity-associated disorders are major health issues worldwide. Next-generation probiotics (NGPs) are showing promise as potential preventive and therapeutic agents against obesity, with candidate NGPs like Akkermansia muciniphila and Hafnia alvei already demonstrating encouraging results. However, safety issues and strict regulations should be continuously addressed. This review explores the current knowledge regarding NGPs, their utility in obesity and obesity-related disorders, their safety profile, and their therapeutic potential in overweight/obese individuals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Georgios Papavasileiou, Dimitrios Tsilingiris, Nikolaos Spyrou, Natalia G. Vallianou, Irene Karampela, Faidon Magkos, Maria Dalamaga
Summary: Urologic cancers account for a significant proportion of new cancer cases and deaths. There is evidence supporting a potential causal link between obesity and four common urologic cancers. Genetic studies have shown a possible association between obesity and kidney and bladder cancer, while biological mechanisms such as hormone levels and inflammation may contribute to this link. Potential therapeutic options for urologic cancers related to obesity include certain drugs and adipokine receptor agonists/antagonists.
SEMINARS IN CANCER BIOLOGY
(2023)
Article
Oncology
Elisabeth A. Larson, Maria Dalamaga, Faidon Magkos
Summary: Cancer is a major cause of death worldwide, and its impact on individual and public health, healthcare systems, and society is significant. Obesity increases the risk of certain types of cancer, but physical activity has been shown to decrease the risk of obesity-related cancers and improve cancer prognosis and mortality rates. This review examines the recent evidence on the effects of physical activity on the prevention and survival of obesity-related cancers.
SEMINARS IN CANCER BIOLOGY
(2023)
Review
Oncology
Natalia G. Vallianou, Angelos Evangelopoulos, Dimitris Kounatidis, Fotis Panagopoulos, Eleni Geladari, Irene Karampela, Theodora Stratigou, Maria Dalamaga
Summary: This review summarizes recent findings in immunotherapy for head and neck cancer, focusing on the efficacy and potential of novel treatments such as combination immune-checkpoint inhibitors, tumor vaccines, oncolytic viruses, and adoptive cellular immunotherapy. It also discusses the role of the microbiome, limitations of immunotherapy, and various biomarkers based on genetics and the tumor microenvironment.
CURRENT ONCOLOGY REPORTS
(2023)
Editorial Material
Oncology
Maria Dalamaga, Narjes Nasiri-Ansari, Nikolaos Spyrou
Review
Endocrinology & Metabolism
Ioannis G. Lempesis, Dimitrios Varrias, Marios Sagris, Robert R. Attaran, Elissa S. Altin, Christos Bakoyiannis, Leonidas Palaiodimos, Maria Dalamaga, Damianos G. Kokkinidis
Summary: The association between obesity and peripheral artery disease (PAD) is controversial, but recent evidence suggests a potential protective effect of higher body mass index on PAD-related complications and mortality. Possible mechanisms include genetic background, adipose tissue dysfunction, and body fat distribution.
CURRENT OBESITY REPORTS
(2023)
Review
Endocrinology & Metabolism
Stamatia Simati, Alexander Kokkinos, Maria Dalamaga, Georgia Argyrakopoulou
Summary: The obesity paradox refers to the observation that certain chronic diseases show a protective association between body mass index (BMI) and clinical outcomes. However, this association may be influenced by factors such as limitations of BMI, unintended weight loss due to chronic illness, different phenotypes of obesity, and cardiorespiratory fitness levels. Recent evidence suggests that cardioprotective medications, obesity duration, and smoking status also play a role in the obesity paradox.
CURRENT OBESITY REPORTS
(2023)
Article
Medicine, General & Internal
Irene Karampela, Natalia G. Vallianou, Dimitrios Tsilingiris, Gerasimos Socrates Christodoulatos, Georgios Antonakos, Ioanna Marinou, Evaggelos Vogiatzakis, Apostolos Armaganidis, Maria Dalamaga
Summary: This study found that serum omentin-1 levels were increased in critically ill patients with sepsis and were associated with the severity and prognosis of sepsis. Omentin-1 may be a potential biomarker for sepsis.
MEDICINA-LITHUANIA
(2023)