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JOURNAL ARTICLE
Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratakis
CONTEXT: Carney complex (CNC) is a familial neoplasia syndrome associated with growth hormone (GH) excess (GHE). OBJECTIVE: To describe the frequency of GHE in a large cohort of patients with CNC, and to identify genotype-phenotype correlations. METHODS: Patients with CNC with at least one biochemical evaluation of GH secretion at our center from 1995-2021 (n=140) were included in the study. Diagnosis of GHE was based on levels of insulin-like growth factor-1 (IGF-1), GH suppression during oral glucose tolerance test (OGTT), GH stimulation after thyrotropin (TRH) administration and overnight GH secretion...
April 13, 2024: Journal of Clinical Endocrinology and Metabolism
#2
REVIEW
Andrea Strakova-Peterikova, Maryna Slisarenko, Josef Skopal, Kristyna Pivovarcikova, Tomas Pitra, Mihaela Farcas, Michael Michal, Michal Michal, Kvetoslava Michalova
A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large cell calcifying Sertoli cell tumor, Peutz-Jeghers syndrome and intratubular large cell hyalinizing Sertoli cell neoplasia, and VHL syndrome and clear cell papillary cystadenoma of the epididymis.However, recent studies proposed potential novel links between some testicular and paratesticular neoplasms with certain tumor syndromes. While more studies are still needed to solidify these associations, recent research suggests that a subset of Leydig cell tumors may arise in patients with hereditary leiomyomatosis and renal cell carcinoma syndrome or that some seminomas may occur in Lynch syndrome patients...
April 15, 2024: Virchows Archiv: An International Journal of Pathology
#3
Chuan Li, Wenxin Li, Maocai Shang, Pan Wang, Xianwen Hu
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors affecting the gastrointestinal tract. Typically, GISTs are solitary; however, in rare cases, they may be multiple and appear in one or more organs. Multiple GISTs can appear in familial GISTs, children, or certain tumor syndromes such as neurofibromatosis type 1, Carney syndrome, and Carney-Stratakis syndrome. However, the diagnosis of primary multiple sporadic GISTs is often more difficult than that of these diseases. Herein, we report a case of multiple primary sporadic GISTs in a 64-year-old man, affecting the abdominal cavity and retroperitoneum, as identified through dual-time point positron emission tomography (PET) with 18 F-labeled fluoro-2-deoxyglucose (18 F-FDG) and computed tomography (18 F-FDG PET/CT)...
2024: Frontiers in Oncology
#4
JOURNAL ARTICLE
Annette Zimpfer, Liza M Abel, Anthony Alozie, Christian D Etz, Björn Schneider
PURPOSE: Cardiac myxomas (CMs) are the second most common benign primary cardiac tumors, mainly originating within the left atrium. Approximately 5% of CM cases are associated with Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome often caused by germline mutations in the Protein Kinase A regulatory subunit 1A (PRKAR1A). Data concerning PRKAR1A alterations in sporadic myxomas are variable and sparse, with PRKAR1A mutations reported to range from 0% to 87%. Therefore, we investigated the frequency of PRKAR1A mutations in sporadic CM using next-generation sequencing (NGS)...
March 14, 2024: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
#5
MULTICENTER STUDY
Patricia Vaduva, Florian Violon, Anne Jouinot, Lucas Bouys, Stéphanie Espiard, Fidéline Bonnet-Serrano, Marie Odile North, Catherine Cardot-Bauters, Gerald Raverot, Sylvie Hieronimus, Hervé Lefebvre, Marie-Laure Nunes, Antoine Tabarin, Lionel Groussin, Guillaume Assié, Mathilde Sibony, Marie-Christine Vantyghem, Eric Pasmant, Jérôme Bertherat
OBJECTIVE: Carney complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. Carney complex includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, and various breast benign tumors. DESIGN: The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype. METHODS: A 3-year follow-up multicenter French prospective study of CNC patients included 50 women who were analyzed for CNC manifestations and particularly breast lesions, with breast imaging, genotyping, and hormonal settings...
February 1, 2024: European Journal of Endocrinology
#6
Oscar V Navea, Maria B Navea, Raul De la Fuente
Superficial angiomyxomas, also known as cutaneous myxomas, are rare, benign soft tissue tumors that present as papulonodular or polypoid, asymptomatic, slow-growing lesions. They typically occur in the head, neck, trunk, and extremities of adults and may be isolated tumors or part of the Carney Complex. We present a case of SA with an uncommon area of presentation and a brief discussion of the importance of ruling out the presence of systemic syndromes such as the Carney Complex.
December 2023: Curēus
#7
REVIEW
Maha M AlRasheed
Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney's complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms...
December 30, 2023: Heart, Lung & Circulation
#8
MULTICENTER STUDY
Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela Wu
Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare testicular tumors, representing <1 % of all testicular neoplasms. Almost 40 % of patients with LCCSCTs will present in the context of the inherited tumor predisposition syndrome, the Carney complex. While most LCCSCTs are benign, 10-20 % have malignant behavior. The aim of our study was to analyze LCCSCTs for novel molecular alterations in addition to PRKAR1A mutations and to identify potential drivers for malignant progression. Eight LCCSCTs diagnosed at two institutions were included...
February 2024: Human Pathology
#9
JOURNAL ARTICLE
Maryam Abdullah Al Saleem, Nida Mirzaman Khan, Tarek Mohammad ElSharkawy
BACKGROUND: Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney-Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1. CASE PRESENTATION: Herein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia...
December 15, 2023: Journal of Medical Case Reports
#10
Ibrahim A Khalil, Mohamed Hatem, Khaled A Murshed, Majd Alkabbani, Nagy Younes, Khalid Al Rumaihi
Testicular Large cell calcifying Sertoli cell tumours (LCCSTs) are extremely rare. The primary challenge in benign LCCSTs, which are typically multifocal and bilateral tumours affecting young males, is to confirm the diagnosis to avoid radical intervention and preserve fertility potential. Patient clinical presentation, laboratory results, diagnostic radiological tests along with confirmatory histopathological studies, are the cornerstones in such cases, nevertheless genetic testing is warranted, as LCCSTs can be part of genetic syndrome such Carney complex...
November 2023: Urology Case Reports
#11
JOURNAL ARTICLE
Kübra Yüksek Acinikli, Sezer Acar, Ahu Paketçi, Özgür Kırbıyık, Mert Erbaş, Özge Besci, Gözde Akın Kağızmanlı, Deniz Kızmazoğlu, Oktay Ulusoy, Erdener Özer, Kutsal Yörükoğlu, Ayhan Abacı, Handan Güleryüz, Ece Böber, Korcan Demir
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare genetic disease mainly associated with Carney complex (CNC), which is caused by germline mutations of the regulatory subunit type 1A (RIα) of the cAMP-dependent protein kinase (PRKAR1A) gene. We report three cases suffering from CNC with unique features in diagnosis and follow-up. All cases had obesity and a cushingoid appearance and exhibited laboratory characteristics of hypercortisolism. However biochemical and radiological examinations initially suggested Cushing's disease in one case ...
December 12, 2023: Journal of Clinical Research in Pediatric Endocrinology
#12
REVIEW
Chetna Sachdev, Rajesh G Gattani, Jayesh Agrawal
Thyroid cancer, being the prevailing form of endocrine malignancy, exhibits a notable surge in its incidence rates. Follicular thyroid carcinoma (FTC) and papillary thyroid carcinoma (PTC) represent the predominant well-differentiated subtypes and are recognized as the most prevalent forms of thyroid carcinomas. Over the course of several years, numerous molecular, genetic, and epigenetic modifications have been discerned in diverse forms of thyroid neoplasms. Common occurrences comprise point mutations in the BRAF and RAS genes, along with chromosomal rearrangements involving the RET/PTC and PAX8/PPARγ genes...
November 2023: Curēus
#13
Alexandra Lao, Julio Silva, Brian Chiu, Consolato M Sergi
Carney syndrome is an autosomal dominant complex involving endocrinopathy, mucocutaneous hyperpigmentation, and different tumors, including cardiac myxomas. We report on a single family with several members affected with Carney syndrome. Family and individual medical histories were investigated in several Canadian provinces. The histology slides were also reviewed. Four family members (two young women, both sisters, their mother, and maternal grandmother) were found to harbor Carney syndrome. Everyone presented with multiple and recurrent atrial myxomas of the heart, requiring multiple open cardiac surgeries...
December 8, 2023: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
#14
REVIEW
Rawan M Hammad
Malignant melanotic nerve sheath tumor (MMNST) which was formerly known as melanocytic schwannoma, is an uncommon aggressive type of nerve sheath tumor. It originates from nerve roots with clonal Schwann cell proliferation and melanin pigment production. MMNST which was once thought to be a benign tumor is now considered a malignant disease based on the latest 2020 World Health Organization classification of soft tissue tumors. Interestingly, despite the histologic features appearing benign with a low proliferation index, the clinical course of this tumor is malignant, which was demonstrated in case series with high rate of recurrences and metastasis...
2023: Journal of Microscopy and Ultrastructure
#15
Eduardo C Lobato, Felipe F Castro, Lucas S Santana, Ibere C Soares, Gustavo F C Fagundes, Madson Q Almeida
Carney-Stratakis syndrome (CSS) is an autosomal dominant rare syndrome, with incomplete penetrance, characterized by the association of paragangliomas and/or pheochromocytomas and gastrointestinal stromal tumors (GISTs). CSS is caused by germline heterozygous loss-of-function pathogenic variants (PVs) in the succinate dehydrogenase subunit genes ( SDHB, SDHC, SDHD ), with SDHB and SDHD being the most frequent. To date, only 2 germline SDHC PVs (c.43 C > T; c.405 + 1G > A) have been described in 3 patients with CSS...
November 2023: JCEM Case Rep
#16
REVIEW
Gamze Akkuş, Márta Korbonits
Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we summerise germline genetic alterations in patients with pituitary neuroendocrine tumors (pituitary adenomas). These may be disorders with isolated pituitary tumors, such as X-linked acrogigantism, or AIP-related pituitary tumors, or as part of syndromic diseases, such as multiple endocrine neoplasia type 1 or Carney complex...
November 24, 2023: Archives of Medical Research
#17
REVIEW
Wang-Rong Yang, Xing-Huan Liang, Ying-Fen Qin, Hai-Yan Yang, Shu-Zhan He, Zhen-Xing Huang, Yu-Ping Liu, Zuo-Jie Luo
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare adrenocorticotropin hormone (ACTH)-independent Cushing's syndrome (CS). Pediatric patients with PPNAD typically have unusual skin lesions and slow growth with unknown causes. We present a case of a female Chinese patient with PPNAD caused by the germline PRKACA gene copy number gain of chromosome 19. The patient initially presented with kidney stones, short stature, and obesity. After further testing, it was discovered that the patient had diabetes, mild hypertension, low bone mass, a low ACTH level, and hypercortisolemia, and neither the low-dose or high-dose dexamethasone suppression test was able to inhibit hematuric cortisol, which paradoxically increased...
November 17, 2023: Archives of Endocrinology and Metabolism
#18
JOURNAL ARTICLE
Stephanie DiFiglia, Anna M Georgiopoulos, Russell Portenoy, Elizabeth Seng, Maria Berdella, Deborah Friedman, Catherine Kier, Rachel W Linnemann, Brandi Middour-Oxler, Patricia Walker, Janice Wang, Lael M Yonker, Brian Buehler, Nivedita Chaudhary, Christine Esposito, Theresa Frantzen, Katherine Henthorne, Amy Plachta, Sophie Pollinger, Teresa Stables-Carney, Jessica Trentacoste, Lara Dhingra
BACKGROUND: Little is known about the burden of illness experienced by people with cystic fibrosis (pwCF) since the advent of CF transmembrane conductance regulator (CFTR) modulator therapies. Studies that characterize the nature of illness burden are needed to inform the development and implementation of palliative care programs that can serve this population and address quality of life concerns. METHODS: Adults with CF treated at five U.S. CF centers were surveyed to obtain baseline data for the Improving Life with CF primary palliative care implementation trial...
November 9, 2023: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
#19
REVIEW
Amit Agarwal, Girish Bathla, Neetu Soni, Amit Desai, Pranav Ajmera, Dinesh Rao, Vivek Gupta, Prasanna Vibhute
The nervous system is commonly involved in a wide range of genetic tumor-predisposition syndromes. The classification of genetic tumor syndromes has evolved during the past years; however, it has now become clear that these syndromes can be categorized into a relatively small number of major mechanisms, which form the basis of the new 5th edition of the World Health Organization book (beta online version) on genetic tumor syndromes. For the first time, the World Health Organization has also included a separate chapter on genetic tumor syndromes in the latest edition of all the multisystem tumor series, including the 5th edition of CNS tumors...
February 7, 2024: AJNR. American Journal of Neuroradiology
#20
JOURNAL ARTICLE
Melissa L Boby, Daren Fearon, Matteo Ferla, Mihajlo Filep, Lizbé Koekemoer, Matthew C Robinson, John D Chodera, Alpha A Lee, Nir London, Annette von Delft, Frank von Delft, Hagit Achdout, Anthony Aimon, Dominic S Alonzi, Robert Arbon, Jasmin C Aschenbrenner, Blake H Balcomb, Elad Bar-David, Haim Barr, Amir Ben-Shmuel, James Bennett, Vitaliy A Bilenko, Bruce Borden, Pascale Boulet, Gregory R Bowman, Lennart Brewitz, Juliane Brun, Sarma Bvnbs, Mark Calmiano, Anna Carbery, Daniel W Carney, Emma Cattermole, Edcon Chang, Eugene Chernyshenko, Austin Clyde, Joseph E Coffland, Galit Cohen, Jason C Cole, Alessandro Contini, Lisa Cox, Tristan Ian Croll, Milan Cvitkovic, Steven De Jonghe, Alex Dias, Kim Donckers, David L Dotson, Alice Douangamath, Shirly Duberstein, Tim Dudgeon, Louise E Dunnett, Peter Eastman, Noam Erez, Charles J Eyermann, Michael Fairhead, Gwen Fate, Oleg Fedorov, Rafaela S Fernandes, Lori Ferrins, Richard Foster, Holly Foster, Laurent Fraisse, Ronen Gabizon, Adolfo García-Sastre, Victor O Gawriljuk, Paul Gehrtz, Carina Gileadi, Charline Giroud, William G Glass, Robert C Glen, Itai Glinert, Andre S Godoy, Marian Gorichko, Tyler Gorrie-Stone, Ed J Griffen, Amna Haneef, Storm Hassell Hart, Jag Heer, Michael Henry, Michelle Hill, Sam Horrell, Qiu Yu Judy Huang, Victor D Huliak, Matthew F D Hurley, Tomer Israely, Andrew Jajack, Jitske Jansen, Eric Jnoff, Dirk Jochmans, Tobias John, Benjamin Kaminow, Lulu Kang, Anastassia L Kantsadi, Peter W Kenny, J L Kiappes, Serhii O Kinakh, Boris Kovar, Tobias Krojer, Van Ngoc Thuy La, Sophie Laghnimi-Hahn, Bruce A Lefker, Haim Levy, Ryan M Lithgo, Ivan G Logvinenko, Petra Lukacik, Hannah Bruce Macdonald, Elizabeth M MacLean, Laetitia L Makower, Tika R Malla, Peter G Marples, Tatiana Matviiuk, Willam McCorkindale, Briana L McGovern, Sharon Melamed, Kostiantyn P Melnykov, Oleg Michurin, Pascal Miesen, Halina Mikolajek, Bruce F Milne, David Minh, Aaron Morris, Garrett M Morris, Melody Jane Morwitzer, Demetri Moustakas, Charles E Mowbray, Aline M Nakamura, Jose Brandao Neto, Johan Neyts, Luong Nguyen, Gabriela D Noske, Vladas Oleinikovas, Glaucius Oliva, Gijs J Overheul, C David Owen, Ruby Pai, Jin Pan, Nir Paran, Alexander Matthew Payne, Benjamin Perry, Maneesh Pingle, Jakir Pinjari, Boaz Politi, Ailsa Powell, Vladimír Pšenák, Iván Pulido, Reut Puni, Victor L Rangel, Rambabu N Reddi, Paul Rees, St Patrick Reid, Lauren Reid, Efrat Resnick, Emily Grace Ripka, Ralph P Robinson, Jaime Rodriguez-Guerra, Romel Rosales, Dominic A Rufa, Kadi Saar, Kumar Singh Saikatendu, Eidarus Salah, David Schaller, Jenke Scheen, Celia A Schiffer, Christopher J Schofield, Mikhail Shafeev, Aarif Shaikh, Ala M Shaqra, Jiye Shi, Khriesto Shurrush, Sukrit Singh, Assa Sittner, Peter Sjö, Rachael Skyner, Adam Smalley, Bart Smeets, Mihaela D Smilova, Leonardo J Solmesky, John Spencer, Claire Strain-Damerell, Vishwanath Swamy, Hadas Tamir, Jenny C Taylor, Rachael E Tennant, Warren Thompson, Andrew Thompson, Susana Tomásio, Charles W E Tomlinson, Igor S Tsurupa, Anthony Tumber, Ioannis Vakonakis, Ronald P van Rij, Laura Vangeel, Finny S Varghese, Mariana Vaschetto, Einat B Vitner, Vincent Voelz, Andrea Volkamer, Martin A Walsh, Walter Ward, Charlie Weatherall, Shay Weiss, Kris M White, Conor Francis Wild, Karolina D Witt, Matthew Wittmann, Nathan Wright, Yfat Yahalom-Ronen, Nese Kurt Yilmaz, Daniel Zaidmann, Ivy Zhang, Hadeer Zidane, Nicole Zitzmann, Sarah N Zvornicanin
We report the results of the COVID Moonshot, a fully open-science, crowdsourced, and structure-enabled drug discovery campaign targeting the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) main protease. We discovered a noncovalent, nonpeptidic inhibitor scaffold with lead-like properties that is differentiated from current main protease inhibitors. Our approach leveraged crowdsourcing, machine learning, exascale molecular simulations, and high-throughput structural biology and chemistry. We generated a detailed map of the structural plasticity of the SARS-CoV-2 main protease, extensive structure-activity relationships for multiple chemotypes, and a wealth of biochemical activity data...
November 10, 2023: Science
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