Article
Endocrinology & Metabolism
Sarah Vincze, Nicholas Peters, Chia-Ling Kuo, Taylor C. Brown, Reju Korah, Timothy D. Murtha, Justin Bellizzi, Aaliyah Riccardi, Kourosh Parham, Tobias Carling, Jessica Costa-Guda, Andrew Arnold
Summary: GCM2 variants are found in a significant number of patients with primary hyperparathyroidism, but their penetrance is very low, indicating a low risk of developing the disease for individuals carrying these variants. Further research is needed to assess the clinical importance of detecting these GCM2 variants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lucie Canaff, Vito Guarnieri, Yoojung Kim, Betty Y. L. Wong, Alexis Nolin-Lapalme, David E. C. Cole, Salvatore Minisola, Cristina Eller-Vainicher, Filomena Cetani, Andrea Repaci, Daniela Turchetti, Sabrina Corbetta, Alfredo Scillitani, David Goltzman
Summary: This study investigated the role of variants of the GCM2 gene in familial hypoparathyroidism and familial isolated hyperparathyroidism. The results identified several novel GCM2 variants associated with these disorders, highlighting their potential contribution to the development of parathyroid diseases.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Urology & Nephrology
Soren Egstrand, Maria Lerche Mace, Marya Morevati, Anders Nordholm, Lars Henning Engelholm, Jesper Skovhus Thomsen, Annemarie Bruel, Tally Naveh-Many, Yuliu Guo, Klaus Olgaard, Ewa Lewin
Summary: This study revealed the rhythmic expression of parathyroid signature genes and the essential role of the circadian clock system in regulating parathyroid cell function. Knockdown of the core clock gene Bmal1 disrupted the parathyroid circadian clock rhythmicity and resulted in downregulation of genes involved in mitochondrial function and ATP synthesis. Furthermore, the knockdown mice showed an increased proliferative response in the parathyroid gland when combined with uremia.
KIDNEY INTERNATIONAL
(2022)
Review
Oncology
Ruth Nussinov, Chung-Jung Tsai, Hyunbum Jang
Summary: This study examines driver mutations in cancer and questions whether activating mutations or signal strength play a larger role in tumor development. It suggests that signal strength, rather than the initial mutation, determines cell fate. Factors such as homeostatic mechanisms, additional mutations, and the expression levels of certain genes and regulators can impact signaling strength. Signal levels vary across cell types, states, and time windows due to chromatin structure. The study highlights the importance of determining signaling thresholds and predicting signal strength for improving patient outcomes.
Article
Surgery
Thomas Szabo Yamashita, Hallbera Gudmundsdottir, Trenton R. Foster, Melanie L. Lyden, Benzon M. Dy, Peter J. Tebben, Travis McKenzie
Summary: This study retrospectively reviewed the data of pediatric patients (<= 21 years) undergoing surgery for primary hyperparathyroidism (PHPT). The results showed that PHPT is rare in children and mostly sporadic. Familial cases have higher recurrence rates and require closer follow-up.
AMERICAN JOURNAL OF SURGERY
(2023)
Article
Cell Biology
Monica De Luise, Luisa Iommarini, Lorena Marchio, Greta Tedesco, Camelia Alexandra Coada, Andrea Repaci, Daniela Turchetti, Maria Lucia Tardio, Nunzio Salfi, Uberto Pagotto, Ivana Kurelac, Anna Maria Porcelli, Giuseppe Gasparre
Summary: Somatic disruptive mitochondrial DNA mutations affecting the respiratory chain are typically counter-selected in human neoplasms, but are genetic hallmarks of indolent oncocytomas. The correlation between mtDNA mutation type/load and tumor clinical outcome lacks confirmation through functional studies. Familial oncocytomas are rare and offer insight into oncocytic transformation and the role of germline/somatic mtDNA mutations in cancer.
Article
Multidisciplinary Sciences
Xiaohua Wang, James Lundblad, Stephen M. Smith
Summary: Heterodimerization of WT and mCaSR receptors rescues trafficking defects of mutant receptors and reduces the affinity of WT-mutant heterodimer for calcium. In contrast, homozygous mutants do not produce functional receptors on the cell membrane.
Article
Endocrinology & Metabolism
Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocio Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixas, Mercedes Rigla
Summary: Genetic screening in a Mediterranean cohort of suspected familial hyperparathyroidism revealed a high prevalence of germline variants, leading to early diagnosis and treatment for patients and early intervention in their relatives. It is recommended to conduct genetic testing for patients with primary hyperparathyroidism who present high-risk features.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Oncology
Eisar Al-Sukhni, Joel Shapiro, Harini Suraweera, Kara Semotiuk, Carol J. Swallow, Savtaj Brar, Albiruni Razak, Abha A. Gupta, Rebecca A. Gladdy
Summary: This study aimed to describe the clinical features, management, and outcomes of desmoid tumors (DTs) in familial adenomatous polyposis (FAP) patients at a high-volume sarcoma center. The majority of DTs in FAP patients remained stable with observation or a single intervention. Further studies on quality of life are required to better understand the impact of DTs on patients.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Medicine, General & Internal
Emily A. DeBoy, Michael G. Tassia, Kristen E. Schratz, Stephanie M. Yan, Zoe L. Cosner, Emily J. McNally, Dustin L. Gable, Zhimin Xiang, David B. Lombard, Emmanuel S. Antonarakis, Christopher D. Gocke, Rajiv C. McCoy, Mary Armanios
Summary: Persons with variant POT1 protein were found to have unusually long telomeres and susceptibility to familial clonal hematopoiesis and other neoplasms. The study suggests that long telomere length is associated with extended cellular longevity and the capacity to maintain telomeres over time.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Endocrinology & Metabolism
Jakob Hoeppner, Sabrina Lais, Claudia Roll, Andreas Wegener-Panzer, Dagmar Wieczorek, Wolfgang Hoegler, Corinna Grasemann
Summary: Familial hypocalciuric hypercalcemia (FHH) is a benign endocrine condition caused by heterozygous inactivating mutations in the calcium sensing receptor (CaSR). This condition can lead to neonatal hyperparathyroidism if the mutation is paternally inherited, but can be successfully treated with cinacalcet. Patients with FHH should be aware of the risk of neonatal disease manifestation and monitor pregnancies and neonates accordingly.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Medicine, General & Internal
Jakob Hoeppner, Kathrin Sinningen, Adalbert Raimann, Barbara Obermayer-Pietsch, Corinna Grasemann
Summary: This review focuses on the genetic and pathophysiological framework of neonatal hyperparathyroidism, provides counseling recommendations, and summarizes treatment options.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
A. A. Figueiredo, A. Saramago, B. M. Cavaco, J. Simoes-Pereira, V. Leite
Summary: This study aimed to characterize the clinicopathological manifestations of familial parathyroid tumors and compare them between different syndromes. The results showed that patients with MEN2A syndrome presented with lower serum PTH and calcium levels at diagnosis, while the predominant first manifestation in MEN1 syndrome was gastroenteropancreatic neuroendocrine tumors. Additionally, MEN1 patients had a higher number of affected parathyroid glands compared to MEN2A and HPT-JT.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2023)
Article
Medicine, General & Internal
Thomas O. Carpenter, Hillary R. Kelly, Jordan S. Sherwood, Zachary S. Peacock, Vania Nose
Summary: A 14-year-old girl presented with swelling of the jaw and hypercalcemia. A biopsy showed abundant giant cells in the mass. A diagnosis was made based on calcium levels and biopsy results.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Genetics & Heredity
Peter Sparber, Igor Bychkov, Denis Pyankov, Mikhail Skoblov
Summary: Dravet syndrome is a severe form of epilepsy characterized by early onset seizures, developmental regression, ataxia, and motor deficits. Most patients with Dravet syndrome have loss-of-function pathogenic variants in the SCN1A gene, but some patients still cannot be diagnosed even after comprehensive genetic testing. This study developed a splicing reporter assay to analyze the effects of poison exons in the SCN1A gene, and showed the potential of using antisense-modified uridine-rich U7 small nuclear RNAs as a therapeutic intervention for deep-intronic variants in Dravet syndrome.
Article
Ecology
Zachary H. Olson, Christina Torlone, Cameron M. Russell, Casey A. Wood, James F. Welch, Kristin M. Burkholder
Summary: Scavenging is an understudied energy pathway in terrestrial ecosystems that has important connections to disease ecology. This study found that scavengers are able to perceive cues to pathogen risk at carcasses, influencing their foraging decisions. However, cues to carcass age did not have a significant effect on scavenger behavior.
BASIC AND APPLIED ECOLOGY
(2022)
Article
Anthropology
James R. Welch
Summary: Obtaining research authorizations before field studies is required in many countries, but it is difficult to anticipate community understandings of ownership, possession, and use of ethnobiological knowledge. This article discusses the social contours of ethnobiological knowledge in five A'uwe (Xavante) communities in Central Brazil and emphasizes the importance of considering cultural appropriateness and collaborative data collection practices.
JOURNAL OF ETHNOBIOLOGY
(2022)
Article
Multidisciplinary Sciences
James R. Welch, Carlos E. A. Coimbra Jr
Summary: This study explores food security in Xavante communities in Brazil, finding that the A'uwe people rely on a complex network of food reciprocity to mitigate hunger and food scarcity, and demonstrating the resilience of their hybrid economy to changes in external government resources.
Article
Anthropology
James R. Welch
Summary: This article discusses the sacred nature of two food plants - maize and root vegetables - among the A'uwe people in Central Brazil. These plants are considered appropriate gifts during certain ceremonial events and are commonly given to express gratitude.
ANTHROPOLOGY OF CONSCIOUSNESS
(2022)
Article
Anthropology
James R. Welch
Summary: The article re-examines the social organization of Indigenous peoples and proposes a new interpretation of lineages as heritable prerogatives associated with proprietary knowledge ownership. This interpretation has important implications for understanding the role of political factionalism in society.
JOURNAL OF THE ROYAL ANTHROPOLOGICAL INSTITUTE
(2022)
Article
Endocrinology & Metabolism
Johannes F. Fahrmann, Amanda R. Wasylishen, Carolina R. C. Pieterman, Ehsan Irajizad, Jody Vykoukal, Ranran Wu, Jennifer B. Dennison, Christine B. Peterson, Hua Zhao, Kim-Anh Do, Daniel M. Halperin, Sunita K. Agarwal, Jenny E. Blau, Smita Jha, Jaydira Del Rivero, Naris Nilubol, Mary F. Walter, James M. Welch, Lee S. Weinstein, Menno R. Vriens, Rachel S. van Leeuwaarde, Mark J. C. van Treijen, Gerlof D. Valk, Nancy D. Perrier, Samir M. Hanash, Hiroyuki Katayama
Summary: This study identified novel circulating protein markers associated with disease progression in MEN1-related dpNET through mass spectrometry-based proteomic profiling.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Rana Tora, James Welch, Jian Sun, Sunita K. Agarwal, Debra A. Bell, Maria Merino, Lee S. Weinstein, William F. Simonds, Smita Jha
Summary: This study retrospectively characterized HPT-JT syndrome and found an increased risk of parathyroid cancer associated with the disease. The study also identified a correlation between HPT-JT and uterine tumors and kidney tumors, and investigated the mutations of the CDC73 gene.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Elias Chuki, Akua Graf, Anisha Ninan, Rana Tora, Tomilowo Abijo, Lynn Bliss, Naris Nilubol, Lee S. Weinstein, Sunita K. Agarwal, William F. Simonds, Smita Jha
Summary: Long-term outcomes of parathyroid autografts in patients with heritable forms of primary hyperparathyroidism (PHPT) were investigated. The study found that post-graft recurrence of PHPT occurs frequently within the first decade after graft and is challenging to localize, with graft-related recurrences having a shorter time to recurrence and higher parathyroid hormone (PTH) gradient.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Endocrinology & Metabolism
Vaishali Parekh, Lauren R. Brinster, Bin Guan, William F. Simonds, Lee S. Weinstein, Sunita K. Agarwal
Summary: This study used CRISPR/Cas9 gene editing technology to generate a mouse model carrying the GCM2 p.Y392S variant. The results showed that this variant is tolerated in mice and does not increase parathyroid gland cell proliferation or circulating calcium or PTH levels. Further investigation of this variant in early events of parathyroid gland development will be interesting.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Anthropology
James R. Welch
Summary: This article re-examines the social organization of the A'uwe (Xavante) and proposes a new interpretation, suggesting that the previously identified lineages are actually heritable prerogatives associated with proprietary knowledge ownerships. This finding has important implications for understanding the centrality of political factionalism in this society.
JOURNAL OF THE ROYAL ANTHROPOLOGICAL INSTITUTE
(2022)
Article
Endocrinology & Metabolism
Vaishali Parekh, Hui Sun, Min Chen, Lee S. Weinstein, Sunita K. Agarwal
Summary: The loss of Meg3 gene leads to hyperplasia in the pituitary but not in pancreatic islets, serving as a valuable model to study pathways associated with pituitary cell proliferation and function.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Article
Endocrinology & Metabolism
Akua Graf, James Welch, Rashika Bansal, Adel Mandl, Vaishali Parekh, Craig Cochran, Elliot Levy, Naris Nilubol, Dhaval Patel, Samira Sadowski, Smita Jha, Sunita K. Agarwal, Corina Millo, Jenny E. Blau, William F. Simonds, Lee S. Weinstein, Jaydira Del Rivero
Summary: This article reports a case of a patient with MEN1 who has a rare and aggressive G3 GEP-NET. Due to limited treatment recommendations for G3 tumors in MEN1, the patient was counseled based on standard NET treatment guidelines and recommended Lu-177-DOTATATE treatment.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
Meeting Abstract
Endocrinology & Metabolism
Kishan Mathur, Smita Jha, James Welch, Craig Cochran, Naris Nilubol, Lee Weinstein, William Simonds
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Article
Biodiversity Conservation
James R. Welch, Eduardo S. Brondizio, Carlos E. A. Coimbra Jr
Summary: Scientific research evaluating Indigenous fire regimes without ethnographically contextualized ecological data may worsen the blame game and provide evidence for distorted narratives. Spatial analysis of fire scars in Indigenous territories can effectively characterize cultural fire regimes in terms of distribution and frequency, especially when linked to local ecosystems.