1,108 results match your criteria Carney Complex

High-performance brain-to-text communication via handwriting.

Nature 2021 May 12;593(7858):249-254. Epub 2021 May 12.

Howard Hughes Medical Institute at Stanford University, Stanford, CA, USA.

Brain-computer interfaces (BCIs) can restore communication to people who have lost the ability to move or speak. So far, a major focus of BCI research has been on restoring gross motor skills, such as reaching and grasping or point-and-click typing with a computer cursor. However, rapid sequences of highly dexterous behaviours, such as handwriting or touch typing, might enable faster rates of communication. Read More

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Psychosocial Syndemics and Multimorbidity in Patients with Heart Failure .

J Psychiatr Brain Sci 2021 13;6. Epub 2021 Apr 13.

Department of Medicine, Washington University School of Medicine, 660 S. Euclid Avenue, St. Louis, MO 63110, USA.

Heart failure (HF) is a common cause of hospitalization and mortality in older adults. HF is almost always embedded within a larger pattern of multimorbidity, yet many studies exclude patients with complex psychiatric and medical comorbidities or cognitive impairment. This has left significant gaps in research on the problems and treatment of patients with HF. Read More

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Hemorrhagic spinal melanotic schwannoma presenting as acute chest pain: A case report and literature review.

Surg Neurol Int 2021 14;12:164. Epub 2021 Apr 14.

Department of Neurosurgery, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota, United States.

Background: Melanotic schwannoma (MS) is a rare variant of peripheral nerve sheath tumor. MS commonly arises along the spinal nerve sheath. Patients most often experience pain along the dermatome of the affected nerve root. Read More

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A novel mutation in gene in a patient with Carney complex presenting with pituitary macroadenoma, acromegaly, Cushing's syndrome and recurrent atrial myxoma.

Arch Endocrinol Metab 2021 Apr 29. Epub 2021 Apr 29.

Endocrinologist, Practicing at Private Practice, Karaj, Iran.

Carney complex (CNC) is a rare syndrome of multiple endocrine and non-endocrine tumors. In this paper we present a 23-year-old Iranian woman with CNC who harbored a novel mutation (c.642dupT) in gene. Read More

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Financial Considerations Associated With a Fourth Year of Residency Training in Family Medicine: Findings From the Length of Training Pilot Study.

Fam Med 2021 Apr;53(4):256-266

Oregon Health & Science University, Portland, OR.

Background And Objectives: The feasibility of funding an additional year of residency training is unknown, as are perspectives of residents regarding related financial considerations. We examined these issues in the Family Medicine Length of Training Pilot.

Methods: Between 2013 and 2019, we collected data on matched 3-year and 4-year programs using annual surveys, focus groups, and in-person and telephone interviews. Read More

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Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the gene.

BMJ Case Rep 2021 Apr 13;14(4). Epub 2021 Apr 13.

Division of Endocrinology and Metabolism, Jewish General Hospital, McGill University, Montreal, Québec, Canada

A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Read More

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Genetics of Acromegaly and Gigantism.

J Clin Med 2021 Mar 29;10(7). Epub 2021 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.

Growth hormone (GH)-secreting pituitary tumours represent the most genetically determined pituitary tumour type. This is true both for germline and somatic mutations. Germline mutations occur in several known genes (, , , , , , , ) as well as familial cases with currently unknown genes, while somatic mutations in are present in up to 40% of tumours. Read More

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18F-FDG PET/CT Monitoring of Tumor Response to Tyrosine Kinase Inhibitors and Alkylating Drugs in an SDH-Deficient GIST.

Clin Nucl Med 2021 Mar 16. Epub 2021 Mar 16.

From the Departments of Nuclear Medicine and Molecular Imaging Oncology, Institut de Cancérologie de Strasbourg Europe, Strasbourg Strasbourg University, INSERM, VSDSC UMR-S 1113, IGBMC, Illkirch Molecular Imaging-DRHIM, IPHC, UMR 7178, CNRS/Strasbourg University, Strasbourg, France.

Abstract: Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) are associated with loss of function of SDH complex and represent 5% to 7.5% of GISTs. SDH-deficient GISTs usually develop in the stomach of children and young adults, and could be part of Carney triad or Carney-Stratakis syndromes including paraganglioma. Read More

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Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.

Front Endocrinol (Lausanne) 2021 12;12:632543. Epub 2021 Mar 12.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.

The genetic alterations that cause the development of glucocorticoid and/or mineralocorticoid producing benign adrenocortical tumors and hyperplasias have largely been elucidated over the past two decades through advances in genomics. In benign aldosterone-producing adrenocortical tumors and hyperplasias, alteration of intracellular calcium signaling has been found to be significant in aldosterone hypersecretion, with causative defects including those in , and In benign cortisol-producing adrenocortical tumors and hyperplasias abnormal cyclic adenosine monophosphate-protein kinase A signaling has been found to play a central role in tumorigenesis, with pathogenic variants in , and being implicated. The role of this signaling pathway in the development of Cushing's syndrome and adrenocortical tumors was initially discovered through the study of the underlying genetic defects causing the rare multiple endocrine neoplasia syndromes McCune-Albright syndrome and Carney complex with subsequent identification of defects in genes affecting the cyclic adenosine monophosphate-protein kinase A pathway in sporadic tumors. Read More

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Multiple cardiac myxomas and acromegaly revealing carney complex.

Eur Heart J Cardiovasc Imaging 2021 Mar 22. Epub 2021 Mar 22.

Department of Cardiology, Sint-Jan Hospital Bruges, Ruddershove 10, 8000 Bruges, Belgium.

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Schwannoma with Psammoma Body.

J Am Podiatr Med Assoc 2021 Feb;111(1)

We present a case of a 59-year-old male veteran with a chronic history of right foot soft-tissue mass that was causing pain in his shoes, but not functional or neurologic symptoms. Excision of the mass and pathologic evaluation resulted in multidisciplinary involvement and evaluation. In this example, the mass was found to be either an unusual schwannoma that happens to be psammoma body-rich or an unusual psammomatous melanocytic schwannoma that deviates from conventional examples, as a diagnostic consensus was unable to be reached. Read More

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February 2021

Psammomatous melanotic schwannoma - a rare neck lump.

Ann R Coll Surg Engl 2021 Apr 8;103(4):e124-e126. Epub 2021 Mar 8.

Royal National Orthopaedic Hospital, Stanmore, UK.

This case report discusses a cervical psammomatous melanotic schwannoma - a rare form of peripheral nerve sheath tumour - which may be highly vascular and is often associated with the Carney complex. Significant intraneural bleeding, which was encountered intraoperatively, was controlled successfully with a gelatine-based thrombin haemostatic agent (Floseal, Baxter International, Deerfield, IL, USA) without complication. Read More

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[Cancer-associated genodermatoses].

Hautarzt 2021 Apr 4;72(4):288-294. Epub 2021 Mar 4.

Klinik für Dermatologie und Allergologie, LMU Klinikum, Frauenlobstr. 9-11, 80337, München, Deutschland.

Hereditary tumor syndromes are characterized by a familial occurrence of tumors/cancer. A hereditary tumor syndrome should be suspected if a familial occurrence of cancer is seen and/or persons at younger age are affected. Some of the currently known tumor syndromes are associated with specific skin symptoms that can aid the physician in establishing the correct diagnosis. Read More

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First Somatic Defect Associated With Mosaicism for Another Mutation in a Patient With Cushing Syndrome.

J Endocr Soc 2021 Apr 25;5(4):bvab007. Epub 2021 Jan 25.

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

Context: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing syndrome (CS) associated mostly with Carney complex (CNC), a rare autosomal dominant multiple neoplasia syndrome. More than two-thirds of familial cases and approximately one-third of sporadic cases of CNC harbor germline inactivating defects. Increasingly sensitive technologies for the detection of genetic defects such as next-generation sequencing (NGS) have further highlighted the importance of mosaicism in human disease. Read More

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SDHC Methylation Pattern in Patients With Carney Triad.

Appl Immunohistochem Mol Morphol 2021 Feb 24. Epub 2021 Feb 24.

Sikl's Institute of Pathology, Faculty of Medicine and Teaching Hospital in Plzen, Charles University Bioptical Laboratory Ltd, Plzen Department of Oncological Pathology, Masaryk Memorial Cancer Institute Department of Pathology, University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. Read More

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February 2021

Proteasome impairment can lead to CKD.

Ellen F Carney

Nat Rev Nephrol 2021 04;17(4):222

Nature Reviews Nephrology, .

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Genetic and Epigenetic Causes of Pituitary Adenomas.

Front Endocrinol (Lausanne) 2020 26;11:596554. Epub 2021 Jan 26.

Department of Neurosurgery, China Pituitary Disease Registry Center, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.

Pituitary adenomas (PAs) can be classified as non-secreting adenomas, somatotroph adenomas, corticotroph adenomas, lactotroph adenomas, and thyrotroph adenomas. Substantial advances have been made in our knowledge of the pathobiology of PAs. To obtain a comprehensive understanding of the molecular biological characteristics of different types of PAs, we reviewed the important advances that have been made involving genetic and epigenetic variation, comprising genetic mutations, chromosome number variations, DNA methylation, microRNA regulation, and transcription factor regulation. Read More

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January 2021

N-terminal acetylation modestly enhances phase separation and reduces aggregation of the low-complexity domain of RNA-binding protein fused in sarcoma.

Protein Sci 2021 Feb 6. Epub 2021 Feb 6.

The Robert J and Nancy D Carney Institute for Brain Science & Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, Rhode Island, USA.

The RNA-binding protein fused in sarcoma (FUS) assembles via liquid-liquid phase separation (LLPS) into functional RNA granules and aggregates in amyotrophic lateral sclerosis associated neuronal inclusions. Several studies have demonstrated that posttranslational modification (PTM) can significantly alter FUS phase separation and aggregation, particularly charge-altering phosphorylation of the nearly uncharged N-terminal low complexity domain of FUS (FUS LC). However, the occurrence and impact of N-terminal acetylation on FUS phase separation remains unexplored, even though N-terminal acetylation is the most common PTM in mammals and changes the charge at the N-terminus. Read More

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February 2021

A 3D Bioprinted Material That Recapitulates the Perivascular Bone Marrow Structure for Sustained Hematopoietic and Cancer Models.

Polymers (Basel) 2021 Feb 3;13(4). Epub 2021 Feb 3.

Department of Medicine, Rutgers New Jersey Medical School, 185 South Orange Avenue, Newark, NJ 07103, USA.

Translational medicine requires facile experimental systems to replicate the dynamic biological systems of diseases. Drug approval continues to lag, partly due to incongruencies in the research pipeline that traditionally involve 2D models, which could be improved with 3D models. The bone marrow (BM) poses challenges to harvest as an intact organ, making it difficult to study disease processes such as breast cancer (BC) survival in BM, and to effective evaluation of drug response in BM. Read More

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February 2021

The clinical aspects of pituitary tumour genetics.

Endocrine 2021 Mar 4;71(3):663-674. Epub 2021 Feb 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

Background: Pituitary tumours are usually benign and relatively common intracranial tumours, with under- and overexpression of pituitary hormones and local mass effects causing considerable morbidity and increased mortality. While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neoplasia type 1 or 4, Carney complex, McCune-Albright syndrome, phaeochromocytoma/paraganglioma with pituitary adenoma, DICER1 syndrome, Lynch syndrome, and USP8-related syndrome. Genetically determined pituitary tumours usually present at younger age and show aggressive behaviour, and are often resistant to different treatment modalities. Read More

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Antibody Landscape Analysis following Influenza Vaccination and Natural Infection in Humans with a High-Throughput Multiplex Influenza Antibody Detection Assay.

mBio 2021 02 2;12(1). Epub 2021 Feb 2.

Influenza Division, National Center for Immunization and Respiratory Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

To better understand the antibody landscape changes following influenza virus natural infection and vaccination, we developed a high-throughput multiplex influenza antibody detection assay (MIADA) containing 42 recombinant hemagglutinins (rHAs) (ectodomain and/or globular head domain) from pre-2009 A(H1N1), A(H1N1)pdm09, A(H2N2), A(H3N2), A(H5N1), A(H7N7), A(H7N9), A(H7N2), A(H9N2), A(H13N9), and influenza B viruses. Panels of ferret antisera, 227 paired human sera from vaccinees (children and adults) in 5 influenza seasons (2010 to 2018), and 17 paired human sera collected from real-time reverse transcription-PCR (rRT-PCR)-confirmed influenza A(H1N1)pdm09, influenza A(H3N2), or influenza B virus-infected adults were analyzed by the MIADA. Ferret antisera demonstrated clear strain-specific antibody responses to exposed subtype HA. Read More

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February 2021

Mobilizing embedded research and operations partnerships to address harassment of women Veterans at VA medical facilities.

Healthc (Amst) 2021 Jan 26:100513. Epub 2021 Jan 26.

VA HSR&D Center for the Study of Healthcare Innovation, Implementation and Policy (CSHIIP), VA Greater Los Angeles Healthcare System, Los Angeles, CA, USA; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

Key insights: A: Addressing a complex problem like harassment in VA medical facilities requires committed, engaged collaboration at multiple levels of the organization. B: Timely feedback of initial research findings to operations partners enabled rapid and more responsive development of new programs and policies. C: Our research-clinical partnership has enabled us to pursue targeted change from the outset, while incorporating real-time findings from embedded researchers working to develop a comprehensive understanding of the problem. Read More

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January 2021

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Endocr Pathol 2021 Mar 25;32(1):77-101. Epub 2021 Jan 25.

Department of Pathology and Laboratory Medicine, Perelmann School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.

Cancer derived from thyroid follicular epithelial cells is common; it represents the most common endocrine malignancy. The molecular features of sporadic tumors have been clarified in the past decade. However the incidence of familial disease has not been emphasized and is often overlooked in routine practice. Read More

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Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex.

ARYA Atheroscler 2020 May;16(3):146-150

Associate Professor, Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

Background: Carney complex (CNC) is an uncommon multisystem endocrine disorder with significant variability of clinical manifestations including mucocutaneous involvement (pigmented lesions, myxomas, blue nevi, etc.), endocrine tumors (adrenal, pituitary, thyroid glands, or testicles), and non-endocrine tumors [cardiac myxomas, psammomatous melanotic schwannomas (PMS), breast myxomas as well as ductal adenomas, and osteochondromyxomas]. To our knowledge, this is the second report of CNC in Iran, presenting with typical manifestations. Read More

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MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.

Eur J Endocrinol 2021 Mar;184(3):R99-R109

Université de Paris, Institut Cochin, Inserm U1016, Paris, France.

Described for the first time in 1985, Carney complex (CNC) is a rare dominantly inherited multiple neoplasia syndrome with almost full penetrance and characterized by both endocrine - primary pigmented nodular adrenocortical disease with Cushing's syndrome, acromegaly and thyroid tumors - and non-endocrine manifestations such as cardiac, cutaneous and mucosal myxomas, pigmented cutaneous lesions, psammomatous melanotic schwannoma, osteochondromyxoma and a wide range of other tumours with potential malignancy. The pathophysiology of CNC is a model of dysregulation of the cAMP/PKA signalling in human diseases. As described 20 years ago, inactivating heterozygous mutations of PRKAR1A formerly known as CNC1, encoding the regulatory subunit 1α of protein kinase A, are identified in more than 70% of the index cases, while inactivating mutations of genes encoding phosphodiesterases are found in rare and particular forms of the complex. Read More

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Revealing the effects of temporal orienting of attention on response conflict using continuous movements.

Atten Percept Psychophys 2021 May 13;83(4):1463-1478. Epub 2021 Jan 13.

Department of Cognitive, Linguistic & Psychological Sciences, Brown University, 190 Thayer St, Providence, RI, 02912, USA.

Orienting attention in time enables us to prepare for forthcoming perception and action (e.g., estimating the duration of a yellow traffic light when driving). Read More

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Carney triad: A case report, characteristics and literature review of this rare entity.

Int J Surg Case Rep 2021 Feb 7;79:14-17. Epub 2021 Jan 7.

Department of General and Digestive Surgery, Hospital Virgen de la Salud, Avenida Barber nº30, Toledo, Spain. Electronic address:

Introduction And Importance: Carney triad is a rare entity of unknown etiology, characterized by the association of tumors with low incidence such as: gastric leiomyosarcoma, pulmonary chondroma and extra-adrenal paraganglioma. We show a case of Carney triad diagnosed in our center that has some different characteristics to the typical presentation of this patology, and a review of the literature.

Case Presentation: We present the case of a 47-year-old men who was admitted to our hospital for upper gastrointestinal bleeding and anemia. Read More

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February 2021

Newborn infant with congenital lentigines as a manifestation of Carney Complex.

BMJ Case Rep 2021 Jan 7;14(1). Epub 2021 Jan 7.

Neonatal Unit, Ayrshire Maternity Unit, University Hospital Crosshouse, Kilmarnock, UK.

Carney Complex (CNC) is a rare syndrome characterised by skin pigmentation, endocrine over activity and myxomas, with the median age of detection being 20 years. We present a case of CNC diagnosed in infancy after being noted to have multiple lentigines over his face, abdomen, back and thighs at birth. We consider the differential diagnoses of similar cutaneous presentations in the well neonate and review the prognosis and suggested surveillance of patients with CNC. Read More

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January 2021

Cardiac phoenix in the brain-occult intracranial hemorrhagic metastases from completely resected atrial myxoma.

Surg Neurol Int 2020 11;11:383. Epub 2020 Nov 11.

Department of Neuropathology, Kovai Medical Center and Hospitals, Coimbatore, Tamil Nadu, India.

Background: Cardiac myxomas are sporadic in nature and can often recur with a frequency of 3%, especially in middle-aged women, and 22% of the cases account to a part of Carney complex. Complete surgical removal of the myxoma is usually curative. Recurrence has been related with partial surgical excision, multicentricity, and embolism of tumor fragments. Read More

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November 2020