Search Our Scientific Publications & Authors

World J Cardiol 2022 Apr;14(4):206-219

Department of Cardiology, National Institute of Cardiovascular Diseases, Dhaka 1207, Bangladesh.

Cardiac myxomas are common primary neoplasms of the heart. They are biologically benign but "functionally malignant" because of the potential for embolization. They arise most commonly from the left atrium, but no chambers of the heart are immune. Read More

J Invest Dermatol 2022 May 11. Epub 2022 May 11.

iGReD, CNRS, Inserm, Université Clermont-Auvergne, France. Electronic address:

Carney complex (CNC) is a rare familial multi-neoplastic syndrome predisposing to endocrine and non-endocrine tumors due to inactivating mutations of PRKAR1A leading to perturbations of the cAMP protein kinase A (PKA) signaling pathway. Skin lesions are the most common manifestation of CNC, including lentigines, blue nevi and cutaneous myxomas, in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. Read More

Adv Geriatr Med Res 2022 29;4(1). Epub 2022 Mar 29.

Center for Biomedical Engineering, School of Engineering, Brown University, Providence, RI 02912, USA.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder affecting millions of people worldwide and is currently incurable. As the population ages, AD and related dementia are becoming the biggest epidemic in medical history: the number of people aged 65 and older with AD is projected to increase between two- and three-fold by 2050. Imaging and biomarker studies suggest that the pathophysiological processes of AD begin more than a decade before the diagnosis of dementia, opening the possibility of early, preemptive prediction. Read More

Nat Genet 2022 Apr 4;54(4):412-436. Epub 2022 Apr 4.

Research Center and Memory Clinic Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Read More

Cognition 2022 Mar 29;225:105103. Epub 2022 Mar 29.

Department of Cognitive, Linguistic, and Psychological Sciences, Brown University, USA; Carney Institute for Brain Science, Brown University, USA.

Humans appear to represent many forms of knowledge in associative networks whose nodes are multiply connected, including sensory, spatial, and semantic. Recent work has shown that explicitly augmenting artificial agents with such graph-structured representations endows them with more human-like capabilities of compositionality and transfer learning. An open question is how humans acquire these representations. Read More

Clin Endocrinol (Oxf) 2022 Mar 29. Epub 2022 Mar 29.

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

Objective: Most pituitary tumours occur sporadically without a genetically identifiable germline abnormality, a small but increasing proportion present with a genetic defect that predisposes to pituitary tumour development, either isolated (e.g., aryl hydrocarbon receptor-interacting protein, AIP) or as part of a tumour-predisposing syndrome (e. Read More

Front Biosci (Landmark Ed) 2022 03;27(3):77

Department of Neurosurgery, University of Utah, Salt Lake City, UT 84132, USA.

Pituitary adenomas (PA), or pituitary neuroendocrine tumors (PitNETs), represent 15% of all central nervous system tumors. Classic description of PitNETs solely by hormonal classification has given way to key transcription factors that play a role in the pathology of PitNETs including steroidogenic factor-1 (SF-1), t-box pituitary transcription factor (TPIT), and pituitary transcription factor 1 (PIT-1). Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), and Carney complex. Read More

Atten Percept Psychophys 2022 Apr 18;84(3):926-942. Epub 2022 Mar 18.

Department of Cognitive, Linguistic, and Psychological Sciences, Brown University, Providence, RI, 02912, USA.

Considerable research has shown that the perception of time can be distorted subjectively, but little empirical work has examined what factors affect time perception in film, a naturalistic multimodal stimulus. Here, we explore the effect of sensory modality, arousal, and valence on how participants estimate durations in film. Using behavioral ratings combined with pupillometry in a within-participants design, we analyzed responses to and duration estimates of film clips in three experimental conditions: audiovisual (containing music and sound effects), visual (without music and sound effects), and auditory (music and sound effects without a visual scene). Read More

Am J Ophthalmol Case Rep 2022 Jun 18;26:101427. Epub 2022 Feb 18.

North Florida / South Georgia Veterans Health System, 1601 SW Archer Rd., Gainesville, FL, 32608, USA.

Purpose: To present the importance of considering conjunctival myxoid stromal tumors in the differential when evaluating eyelid lesions as these tumors could indicate undetected systemic syndromes including Zollinger-Ellison Syndrome, Carney complex, and other endocrine disorders.

Observations: We present the case of a 56-year-old Caucasian female who was evaluated for a solid cyst-like structure of the palpebral conjunctiva just temporal to, but not involving, the left lower eyelid punctum. The lesion was removed with histopathologic examination of the specimen revealing the lesion to be a myxoid spindle cell tumor, consistent with conjunctival myxoid stromal tumor. Read More

Neural Comput 2022 Apr;34(5):1075-1099

Artificial and Natural Intelligence Toulouse Institute, Université de Toulouse, 31052 Toulouse, France.

Visual understanding requires comprehending complex visual relations between objects within a scene. Here, we seek to characterize the computational demands for abstract visual reasoning. We do this by systematically assessing the ability of modern deep convolutional neural networks (CNNs) to learn to solve the synthetic visual reasoning test (SVRT) challenge, a collection of 23 visual reasoning problems. Read More

Mol Psychiatry 2022 Feb 24. Epub 2022 Feb 24.

Department of Biological Sciences, University of South Carolina, Columbia, SC, USA.

Autism spectrum disorders (ASD) are associated with defects in neuronal connectivity and are highly heritable. Genetic findings suggest that there is an overrepresentation of chromatin regulatory genes among the genes associated with ASD. ASH1 like histone lysine methyltransferase (ASH1L) was identified as a major risk factor for ASD. Read More

Epilepsia 2022 Apr 18;63(4):974-991. Epub 2022 Feb 18.

Emory University School of Medicine, Atlanta, Georgia, USA.

Objective: Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy.

Methods: We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and semiology, development, medical history, examination, electroencephalogram, neuroimaging, and treatment. Read More

Nicotine Tob Res 2022 Feb 16. Epub 2022 Feb 16.

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.

Introduction: Tobacco use disorder is a complex behavior with a strong genetic component. Genome-wide association studies (GWAS) on smoking behaviors allows for the creation of polygenic risk scores (PRSs) to approximate genetic vulnerability. However, the utility of smoking-related PRSs in predicting smoking cessation in clinical trials remains unknown. Read More

Cureus 2022 Jan 12;14(1):e21157. Epub 2022 Jan 12.

Internal Medicine and Diabetes and Endocrinology, Barking, Havering and Redbridge University Hospitals National Health Services Trust, London, GBR.

We present the case of a 54-year-old lady who presented to hospital with palpitations and was diagnosed with atrial fibrillation with rapid ventricular response. She was given intravenous metoprolol 5 mg initially followed by a further 5 mg and was commenced on bisoprolol 2.5 mg once daily. Read More

Diagn Pathol 2022 Feb 12;17(1):29. Epub 2022 Feb 12.

Department of Pathology and Translational Research, Gifu University Graduate School of Medicine, Yanagido 1-1, Gifu, 501-1194, Japan.

Background: SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4-deficient thoracic sarcoma (SMARCA4-DTS) is a rare disease that has recently been described as an entity. It is characterized by an aggressive clinical course and specific genetic alterations. As an immunohistological feature, the tumors are deficient in SMARCA4 and SMARCA2 and express sex-determining region Y (SRY)-box 2 (SOX2). Read More

Mol Genet Genomic Med 2022 03 6;10(3):e1884. Epub 2022 Feb 6.

Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, Natori, Japan.

Carney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8. Read More

Front Cardiovasc Med 2021 20;8:770228. Epub 2022 Jan 20.

Department of Cardiology, School of Clinical Medicine, Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing, China.

We report a rare case of coincidental left atrial and right ventricular myxomas manifesting as masses with different echodensities on transthoracic echocardiography. This patient had a history of left atrial myxoma, left intra-left internal carotid artery myxoma, and facial cutaneous myxoma 3 years prior to admission. A Carney complex was suspected, and the patient subsequently tested positive for mutations. Read More

Front Oncol 2021 4;11:778461. Epub 2022 Jan 4.

Department of Translational Medicine, University of Ferrara, Ferrara, Italy.

Background: SDH- gastrointestinal stromal tumors (GIST) account for 20-40% of all KIT/PDGFRA-negative GIST and are due to mutations in one of the four -complex subunits, with mutations as the most frequent. Here we sought to evaluate the presence and prevalence of variants in the germline lineage in a population of - GIST.

Methods: Germline status was assessed by Sanger sequencing on a series of 14 patients with gastric - GIST. Read More

Intern Med 2022 15;61(2):205-211. Epub 2022 Jan 15.

Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Japan.

We herein report a case of Carney complex (CNC) complicated with primary pigmented nodular adrenocortical disease (PPNAD) after unilateral adrenalectomy. A 44-year-old woman was admitted to our hospital for PPNAD surgery. She had previously undergone surgery for cardiac myxoma and had a PRKAR1A mutation with no family history of CNC. Read More

Pediatr Dermatol 2022 Mar 13;39(2):322-323. Epub 2022 Jan 13.

Department of Pediatrics, Columbia University, Vagelos College of Physicians and Surgeons, New York, New York, USA.

Pigmented epithelioid melanocytoma (PEM) is an intermediate-grade melanocytic tumor with considerable histologic overlap with other melanocytic neoplasms such as epithelioid blue nevus (EBN), which is associated with the neoplastic syndrome Carney complex (CC). Next-generation sequencing is a valuable tool for identifying the primary drivers of melanocytic neoplasms and differentiating them from one another. While germline variants in the protein kinase cAMP-dependent regulatory type 1 alpha (PRKAR1A) gene have been associated with EBN and CC, fusions in protein kinase C-alpha (PRKCA) have been shown as sporadic drivers of PEM. Read More

Hum Pathol 2022 02 27;120:71-76. Epub 2021 Dec 27.

Department of Pathology, Cleveland Clinic, Cleveland, OH, 44195, United States.

Cutaneous myxoma (CM) is an uncommon benign neoplasm of skin, which may be sporadic or arise in association with syndromes such as Carney complex. There has been only one large case series describing CM. We report 54 additional cases of CM; patients had a mean age of 55 years (range = 7-91), with a female-to-male ratio of 1. Read More

Am J Surg Pathol 2022 May;46(5):688-700

Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.

We present a series of 18 (8 clinically benign, 8 clinically ambiguous [ie, lacking sufficient follow-up to determine behavior], and 2 clinically malignant) large cell calcifying Sertoli cell tumors (LCCSCT) of the testis. The median patient age and size were 15.5 years and 1. Read More

J Pathol 2022 04 7;256(4):388-401. Epub 2022 Feb 7.

Department of Gynaecological Oncology, Westmead Hospital, Sydney, Australia.

ARID1A (BAF250a) is a component of the SWI/SNF chromatin modifying complex, plays an important tumour suppressor role, and is considered prognostic in several malignancies. However, in ovarian carcinomas there are contradictory reports on its relationship to outcome, immune response, and correlation with clinicopathological features. We assembled a series of 1623 endometriosis-associated ovarian carcinomas, including 1078 endometrioid (ENOC) and 545 clear cell (CCOC) ovarian carcinomas, through combining resources of the Ovarian Tumor Tissue Analysis (OTTA) Consortium, the Canadian Ovarian Unified Experimental Resource (COEUR), local, and collaborative networks. Read More

Am J Surg Pathol 2022 02;46(2):226-232

Departments of Pathology.

Superficial angiomyxomas (SAMs) are benign cutaneous tumors that arise de novo and in the setting of the Carney complex (CC), an autosomal dominant disease with several cutaneous manifestations including lentigines and pigmented epithelioid melanocytomas. Although most SAM do not pose a diagnostic challenge, a subset can demonstrate histopathologic overlap with other myxoid tumors that arise in the skin and subcutis. Traditional immunohistochemical markers are of limited utility when discriminating SAM from histopathologic mimics. Read More

Breast J 2021 12 6;27(12):899-901. Epub 2021 Dec 6.

University of Western Australia, Perth, Western Australia, Australia.

Carney complex (CNC) is an extremely rare, autosomal dominant genetic syndrome consisting of pigmented skin and mucosal changes with multiple endocrine and nonendocrine tumors, including the breast. Breast tumors are typically multiple and benign and are most commonly reported as myxoid fibroadenomas and/or intraductal papillomas. We present a young female patient with known CNC who presented with copious bloody nipple discharge with multiple breast lumps and discuss the breast imaging features regarding this complex and often underrecognized genetic condition. Read More

Breast J 2021 12 3;27(12):887-889. Epub 2021 Dec 3.

Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.

Superficial angiomyxoma (SA) is a rare benign soft-tissue tumor, arising sporadically or as the earliest manifestation of Carney's complex. When it arises sporadically, the breast is infrequently involved with only few cases reported in the literature. Key imaging findings include T2 signal hyperintensity on MRI and hypervascularity. Read More

J Clin Invest 2021 12;131(23)

iGReD, Université Clermont-Auvergne, CNRS6293, INSERM U1103, Clermont-Ferrand, France.

Large-cell calcifying Sertoli cell tumors (LCCSCTs) are among the most frequent lesions occurring in male Carney complex (CNC) patients. Although they constitute a key diagnostic criterion for this rare multiple neoplasia syndrome resulting from inactivating mutations of the tumor suppressor PRKAR1A, leading to unrepressed PKA activity, LCCSCT pathogenesis and origin remain elusive. Mouse models targeting Prkar1a inactivation in all somatic populations or separately in each cell type were generated to decipher the molecular and paracrine networks involved in the induction of CNC testis lesions. Read More

Histopathology 2022 Mar 5;80(4):677-685. Epub 2022 Jan 5.

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

Aims: Large cell calcifying Sertoli cell tumour (LCCSCT) is a rare testicular sex cord-stromal tumour that primarily affects young patients and is associated with Carney complex. We sought to characterise the clinicopathological features of a series of LCCSCT and evaluate the diagnostic utility of PRKAR1A immunohistochemistry (IHC).

Methods And Results: The LCCSCT cohort (n = 15) had a median age of 16 years (range = 2-30 years). Read More