Review
Endocrinology & Metabolism
Shin Kawanabe, Takuyuki Katabami, Ryuichi Oshima, Nobuyuki Yanagisawa, Masakatsu Sone, Noriko Kimura
Summary: This article reports a case of multiple catecholamines-producing PGLs in the middle ear, retroperitoneum, and duodenum, and reviews the literature on duodenal PGLs. The patient's hypertension symptoms were relieved after surgical resection, and no recurrence or metastasis was found at 1 year after the operation.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Sophie T. Williams, Prodromos Chatzikyriakou, Paul V. Carroll, Barbara M. McGowan, Anand Velusamy, Gemma White, Rupert Obholzer, Scott Akker, Nicola Tufton, Ruth T. Casey, Eamonn R. Maher, Soo-Mi Park, Mary Porteous, Rebecca Dyer, Tricia Tan, Florian Wernig, Angela F. Brady, Monika Kosicka-Slawinska, Benjamin C. Whitelaw, Huw Dorkins, Fiona Lalloo, Paul Brennan, Joseph Carlow, Richard Martin, Anna L. Mitchell, Rachel Harrison, Lara Hawkes, John Newell-Price, Alan Kelsall, Rebecca Igbokwe, Julian Adlard, Schaida Schirwani, Rosemarie Davidson, Patrick J. Morrison, Teng-Teng Chung, Christopher Bowles, Louise Izatt
Summary: This study presents the largest cohort of 91 SDHC patients worldwide, showing that most patients primarily develop head and neck paraganglioma (HNPGL) disease, with a smaller proportion having extra-adrenal paraganglioma (EAPGL) and phaeochromocytomas (PCC), along with an increased risk of gastrointestinal stromal tumours (GIST) and renal cell cancers (RCC). About one fifth of the patients develop malignant disease, necessitating comprehensive lifelong tumor screening and surveillance.
CLINICAL ENDOCRINOLOGY
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Orsalia Mangana, Loic Perrot, Cedric Foussier, Suzana Salvi, Marine Lefevre, Dominique Gossot, Brice Gayet, Agathe Seguin-Givelet
Summary: This article describes a 36-year-old woman with multiple tumors as an incomplete presentation of Carney triad, and discusses the therapeutic approach with emphasis on the surgical and oncologic specificities of this syndrome.
ANNALS OF THORACIC SURGERY
(2022)
Article
Endocrinology & Metabolism
Amanda J. Seabrook, Jessica E. Harris, Sofia B. Velosa, Edward Kim, Aideen M. McInerney-Leo, Trisha Dwight, Jason Hockings, Nicholas G. Hockings, Judy Kirk, Paul J. Leo, Amanda J. Love, Catherine Luxford, Mhairi Marshall, Ozgur Mete, David J. Pennisi, Matthew A. Brown, Anthony J. Gill, Gregory Hockings, Roderick J. Clifton-Bligh, Emma L. Duncan
Summary: Pathogenic germline MAX variants are associated with multiple tumors including pheochromocytoma, ganglioneuroma, neuroblastoma, and pituitary neuroendocrine tumors. Clinical, genetic, immunohistochemical, and functional studies on affected families confirmed the associations. Immunohistochemistry and functional studies provided additional evidence for the roles of MAX variants in tumor development.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Cardiac & Cardiovascular Systems
Mariana Gospodinova, Sashka Zhelyazkova, Teodora Chamova, Ognyan Asenov, Zornitsa Pavlova, Tihomir Todorov, Dilyana Mikova, Yordan Palashev, Ivan Gruev, Atanas Kundurdjiev, Albena Todorova, Ivailo Tournev
Summary: We report two unrelated Bulgarian families with hereditary transthyretin (ATTR) amyloidosis due to a rare p.Glu74Leu (Glu54Leu) pathogenic variant found in seven individuals-three of them symptomatic. Only one family with the same variant and with a Swedish origin has been clinically described so far. Our patients are characterized by predominant cardiac involvement, very much similar to the Swedish patients. Although the initial complaint was bilateral carpal tunnel syndrome, advanced amyloid cardiomyopathy was found in two symptomatic carriers at diagnosis with heart failure manifestations. The neurological involvement was considered as mild, with mainly sensory signs and symptoms being present. We followed a non-biopsy algorithm to confirm the diagnosis. Tafamidis 61 mg has been initiated as the only approved disease modifying treatment for ATTR cardiomyopathy. Clinical stability in the absence of adverse events has been observed at follow up.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Otorhinolaryngology
Katherine M. Miller, Firas Sbeih, Kevin Contrera, Chandana A. Reddy, Jessica Marquard, Charis Eng, Robert R. Lorenz
Summary: This study aimed to determine the hazard of developing a second primary, metastatic, or recurrent paraganglioma in SDHx patients with or without P81L mutation. The study found that patients with SDHD P81L mutation were less likely to develop second primary paraganglioma in other parts of the body. Further research is needed to determine if head and neck paraganglioma patients with P81L qualify for less intensive imaging surveillance to screen for second primary paragangliomas outside the head and neck.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2023)
Article
Endocrinology & Metabolism
Diana Borges Duarte, Lia Ferreira, Ana P. Santos, Claudia Costa, Jorge Lima, Catarina Santos, Mariana Afonso, Manuel R. Teixeira, Rui Carvalho, Maria Helena Cardoso
Summary: The study reported a hereditary pheochromocytoma case with a deleterious MAX variant in a family with the largest number of affected individuals to date, as well as the first case of synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Anastasiya Snezhkina, Maria Fedorova, Anastasiya Kobelyatskaya, Daria Markova, Margarita Lantsova, Anna Ikonnikova, Marina Emelyanova, Dmitry Kalinin, Elena Pudova, Nataliya Melnikova, Alexey Dmitriev, George Krasnov, Vladislav Pavlov, Anna Kudryavtseva
Summary: In this study, a high frequency missense variant p.H102R in the SDHD gene was found in an extended cohort of Russian HNPGL patients using whole-exome sequencing. The variant was associated with somatic loss of the gene wild-type allele and evident LOH at the 11p15.5 region and potential loss of the whole of chromosome 11. These findings help with understanding the mechanism of tumorigenesis and are important for the development of cost-effective genetic screening programs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medical Laboratory Technology
Sergio Felipe Pinzon Marino, Paloma Ropero Gradilla, Fernando Ataulfo Gonzalez Fernandez, Ana Maria Villegas Martinez, Silvia Mendez Martinez, Francisco de Asis Bartol Puyal, Elisa Vilades Palomar, Carlos Isanta Otal, Beatriz Cordon Ciordia, Josep Oriol Casanovas Marsal, Samira Bakali Badesa, Jose Alejando Garcia Ortego, Ana Gomez Martinez, Maria Angeles Montanes Gracia, Valle Recasens
Summary: Sickle cell disease is a common hemoglobin disorder caused by alterations in the beta globin chain, resulting in an abnormal hemoglobin variant known as hemoglobin S. The prevalence of these disorders has significantly changed over time due to factors such as migration. A case of a 17-year-old black male born in Gambia with sickle cell disease and a mutation only described in a Japanese family was reported.
CLINICAL BIOCHEMISTRY
(2021)
Article
Cardiac & Cardiovascular Systems
Edward Y. Chan, Areeba Ali, Juan P. Umana, Duc T Nguyen, Dale J. Hamilton, Edward A. Graviss, Vinod Ravi, Thomas E. MacGillivray, Michael J. Reardon
Summary: Cardiac paraganglioma is a rare tumor that requires multidisciplinary management. Surgical resection yields acceptable mortality and survival rates, but complex procedures may be necessary for complete removal of the tumor and reconstruction.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Endocrinology & Metabolism
San-Chao Xiong, Xing-Peng Di, Meng-Ni Zhang, Kan Wu, Xiang Li
Summary: A 25-year-old male patient was diagnosed with rare multifocal para-aortic and para-vesical PGLs and underwent treatment including surgery and immunohistochemistry testing. The cooperation of experienced surgeons, anesthesiologists, and endocrinologists played a critical role in the successful treatment of the patient.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Alexis Huot Daneault, Melanie Desaulniers, Jean-Mathieu Beauregard, Alexis Beaulieu, Frederic Arsenault, Genevieve April, Eric Turcotte, Francois-Alexandre Buteau
Summary: This case demonstrates the efficacy and safety of Lu-177-DOTATATE PRRT in treating unresectable cardiac paraganglioma, significantly improving the patient's quality of life in a situation where therapeutic options are limited.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Lin Zhao, Xu Meng, QiMin Mei, Hua Fan, YeCheng Liu, XianLiang Zhou, HuaDong Zhu, ShuYang Zhang
Summary: In this study, a comprehensive analysis of cardiovascular complications in patients with pheochromocytomas and paragangliomas (PPGLs) was conducted. It was found that higher platelet counts and combination-secreting PPGL are independent risk factors for cardiovascular complications. Therefore, cardiac evaluation is important for PPGL patients, even in the absence of cardiovascular manifestations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Chi Wang, Ming Guan, Shuang Zhang, Can Cui
Summary: This article reports a rare case of paraganglioma that only secretes interleukin-6 (IL-6). Through genomic sequencing, a mutation in the KIF1B gene was found in the patient. In terms of treatment, the patient's symptoms rapidly disappeared, body temperature and heart rate returned to normal after taking doxazosin, and blood indexes gradually improved.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Dentistry, Oral Surgery & Medicine
Y. Zeng, E. Baugh, S. Akyalcin, A. Letra
Summary: Mutations in WNT10A gene have been frequently associated with tooth agenesis, with most of the variants related to this condition affecting protein function and leading to decreased WNT signaling.
JOURNAL OF DENTAL RESEARCH
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Grace Lee, Derrick Y. Tam, Stephen E. Fremes
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
N. Bryce Robinson, Hillary Lia, Mohamed Rahouma, Katia Audisio, Giovanni Soletti, Michelle Demetres, Jeremy R. Leonard, Stephen E. Fremes, Leonard N. Girardi, Mario Gaudino
Summary: The study aimed to investigate the impact of multiple arterial grafting on long-term all-cause mortality in women undergoing isolated coronary artery bypass grafting. The findings showed that women who received multiple arterial grafting had lower long-term mortality and spontaneous myocardial infarction compared to those who received single arterial grafting.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Derrick Y. Tam, Marc Ruel, Stephen E. Fremes
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Dominique Vervoort, Derrick Y. Tam, Stephen E. Fremes
CANADIAN JOURNAL OF CARDIOLOGY
(2023)
Article
Engineering, Biomedical
Nhien Tran-Nguyen, Andrew T. T. Yan, Stephen Fremes, Piero Triverio, Laura Jimenez-Juan
Summary: Coronary artery bypass graft surgery, a common treatment for coronary artery disease, can suffer from graft failure, and the underlying mechanisms are not fully understood. In this study, computational fluid dynamics simulations were used to investigate the relationship between graft hemodynamics and surgical outcomes. Results showed that abnormal wall shear stress (WSS) area one month after surgery correlated with graft lumen remodeling one year after surgery, suggesting that shear-related mechanisms may play a role in post-operative graft remodeling and explain differences in failure rates between arterial and venous grafts.
ANNALS OF BIOMEDICAL ENGINEERING
(2023)
Letter
Endocrinology & Metabolism
Ozgur Mete, C. Christofer Juhlin
ENDOCRINE PATHOLOGY
(2023)
Article
Endocrinology & Metabolism
Sylvia L. Asa, Lori A. Erickson, Guido Rindi
Summary: Endocrine pathology encompasses a wide range of disorders originating from different parts of the body. Understanding this field requires knowledge of the structure and function of the endocrine system, including the signaling pathways involved in hormone synthesis and secretion. Molecular genetics has provided insights into both sporadic and hereditary diseases common in endocrine pathology.
ENDOCRINE PATHOLOGY
(2023)
Article
Endocrinology & Metabolism
Sylvia L. Asa, Ozgur Mete, Nicole D. Riddle, Arie Perry
Summary: This study identified a rare type of pituitary neuroendocrine tumors (PitNETs) that express both PIT1 and SF1 transcription factors. These tumors exhibit variable clinical and morphological features, commonly presenting as large tumors with growth hormone excess and occasionally coexisting with other types of PitNETs.
ENDOCRINE PATHOLOGY
(2023)
Review
Endocrinology & Metabolism
Sylvia L. Asa, Silvia Uccella, Arthur Tischler
Summary: The assessment of cell differentiation in endocrine neoplasms involves the identification of cell structure, specific transcription factors, hormones, and enzymes. Differentiation status serves as prognostic and predictive factors for endocrine neoplasms. Hormones can act as biomarkers for clinical surveillance and loss of differentiated hormone production can indicate dedifferentiation and aggressiveness of the tumor. Differentiated endocrine cells express targets for therapy, providing opportunities for targeted treatment.
ENDOCRINE PATHOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Mario Gaudino, Sigrid Sandner, Kevin R. An, Arnaldo Dimagli, Antonino Di Franco, Katia Audisio, Lamia Harik, Roberto Perezgrovas-Olaria, Giovanni Soletti, Stephen E. Fremes, David L. Hare, Alexander Kulik, Andre Lamy, Joyce Peper, Marc Ruel, Jurrien M. ten Berg, Laura M. Willemsen, Qiang Zhao, Daniel M. Wojdyla, Deepak L. Bhatt, John H. Alexander, Bjorn Redfors
Summary: Graft failure after CABG is common and strongly associated with adverse cardiac events. Age, female sex, and smoking are independent risk factors for graft failure, while statins have a protective effect. Graft failure is associated with an increased risk of myocardial infarction, repeat revascularization, and death.
Article
Cardiac & Cardiovascular Systems
Stephen Fremes, Guillaume Marquis-Gravel, Mario F. L. Gaudino, E. Marc Jolicoeur, Sylvain Bedard, Ruth Masterson Creber, Marc Ruel, Dominique C. Vervoort, Harindra E. Wijeysundera, Michael Farkouh, Jean-Lucien Rouleau
Summary: The STICH3C trial aims to compare the efficacy and safety of CABG and PCI in patients with iLVSD and multivessel disease. This trial will provide important evidence to guide clinical practice.
CIRCULATION-CARDIOVASCULAR INTERVENTIONS
(2023)
Book Review
Endocrinology & Metabolism
Ozgur Mete
ENDOCRINE PATHOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Robert A. Byrne, Stephen Fremes, Davide Capodanno, Martin Czerny, Torsten Doenst, Jonathan R. Emberson, Volkmar Falk, Mario Gaudino, John J. Mcmurray, Roxana Mehran, Milan Milojevic, Miguel Sousa Uva
Summary: In October 2021, the ESC and EACTS established a task force to review the 2018 guidelines on myocardial revascularization for patients with LM disease. The task force suggested updated recommendations for revascularization modality, stating that both CABG and PCI are clinically reasonable options for stable patients with LM disease. The task force also acknowledged knowledge gaps and emphasized the need for more data.
EUROPEAN HEART JOURNAL
(2023)
Review
Cardiac & Cardiovascular Systems
Robert A. Byrne, Stephen Fremes, Davide Capodanno, Martin Czerny, Torsten Doenst, Jonathan R. Emberson, Volkmar Falk, Mario Gaudino, John J. Mcmurray, Roxana Mehran, Milan Milojevic, Miguel Sousa Uva
Summary: In October 2021, the ESC and EACTS established a Task Force to review recommendations on myocardial revascularization in patients with LM disease. The TF assessed new data, including aggregated data from four randomized trials comparing PCI with CABG. The TF concluded that both treatment options are clinically reasonable based on patient preference, expertise, and local operator volumes, but acknowledged gaps in knowledge and the limitations of the available data.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)