Search Our Scientific Publications & Authors

Pathol Res Pract 2021 Jun 6;224:153508. Epub 2021 Jun 6.

Department of Pathology, Indiana University, Indianapolis, IN, 46202, USA.

Most adrenal incidentalomas are non-functioning adenomas that require no treatment. The presence of a myelolipomatous component of adrenal incidentalomas is a rare, but well-known occurrence in both hyperplastic and neoplastic lesions of the adrenal cortex. Although the improvements in abdominal imaging have increased identification of myelolipomatous adrenal cortical adenomas radiologically, due to the rarity of this lesion, the clinical pathological features of these lesions are unclear and can sometimes cause diagnostic difficulty. Read More

Elife 2021 Jun 7;10. Epub 2021 Jun 7.

Committee on Neurobiology Graduate Program, The University of Chicago, Chicago, United States.

Spatially distributed excitation and inhibition collectively shape a visual neuron's receptive field (RF) properties. In the direction-selective circuit of the mammalian retina, the role of strong null-direction inhibition of On-Off direction-selective ganglion cells (On-Off DSGCs) on their direction selectivity is well-studied. However, how excitatory inputs influence the On-Off DSGC's visual response is underexplored. Read More

Jpn J Clin Oncol 2021 Jun 4. Epub 2021 Jun 4.

Department of Radiology, Mayo Clinic Arizona, Scottsdale, AZ, USA.

J Biol Chem 2021 Jun 1;297(1):100850. Epub 2021 Jun 1.

Department of Pharmaceutical Sciences, Washington State University, Spokane, Washington, USA. Electronic address:

Reperfusion therapy, the standard treatment for acute myocardial infarction, can trigger necrotic death of cardiomyocytes and provoke ischemia/reperfusion (I/R) injury. However, signaling pathways that regulate cardiomyocyte necrosis remain largely unknown. Our recent genome-wide RNAi screen has identified a potential necrosis suppressor gene PRKAR1A, which encodes PKA regulatory subunit 1α (R1α). Read More

Front Pharmacol 2021 18;12:680021. Epub 2021 May 18.

Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, MI, United States.

Gliomas are one of the most lethal types of cancers accounting for ∼80% of all central nervous system (CNS) primary malignancies. Among gliomas, glioblastomas (GBM) are the most aggressive, characterized by a median patient survival of fewer than 15  months. Recent molecular characterization studies uncovered the genetic signatures and methylation status of gliomas and correlate these with clinical prognosis. Read More

Int Rev Cell Mol Biol 2021 27;361:301-318. Epub 2021 Jan 27.

Department of Microbiology & Immunology, Vagelos College of Physicians & Surgeons, Columbia University Irving Medical Center, New York, NY, United States. Electronic address:

The cAMP-dependent protein kinase, more commonly referred to as protein kinase A (PKA), is one of the most-studied enzymes in biology. PKA is ubiquitously expressed in mammalian cells, can be activated in response to a plethora of biological stimuli, and phosphorylates more than 250 known substrates. Indeed, PKA is of central importance to a wide range of organismal processes, including energy homeostasis, memory formation and immunity. Read More

BMJ Case Rep 2021 May 28;14(5). Epub 2021 May 28.

Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA

Melanocytic schwannoma (MS) is a rare nerve sheath tumour characterised by melanin-producing neoplastic schwann cells that typically affects the posterior spinal nerve roots. We report an ultrarare case of recurrent/metastatic MS associated with Carney complex in a young woman with family history of breast cancer. This highlights the novel approach of combined checkpoint inhibitors (CPI) and radiotherapy. Read More

Int J Surg Pathol 2021 May 24:10668969211020504. Epub 2021 May 24.

25443Centre Hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.

We present the case of a 31-year-old woman who underwent surgical excision for a polypoid, vulvar lesion. Histopathological analysis showed a diffuse myxoid stroma admixed with scant collagen fibrils. Thin-walled and branching blood vessels were prominent, with a mild perivascular lymphocytic infiltrate. Read More

Front Endocrinol (Lausanne) 2021 3;12:680609. Epub 2021 May 3.

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

Succinate dehydrogenase (SDH) is a key respiratory enzyme that links Krebs cycle and electron transport chain and is comprised of four subunits SDHA, SDHB, SDHC and SDHD. All -deficient tumors are caused by or secondary to loss of SDH activity. As many as half of the familial cases of paragangliomas (PGLs) and pheochromocytomas (PHEOs) are due to mutations of the subunits. Read More

Proc Natl Acad Sci U S A 2021 May;118(21)

Department of Chemistry and Chemical Biology, McMaster University, Hamilton, ON L8S 4L8, Canada;

Familial mutations of the protein kinase A (PKA) R1α regulatory subunit lead to a generalized predisposition for a wide range of tumors, from pituitary adenomas to pancreatic and liver cancers, commonly referred to as Carney complex (CNC). CNC mutations are known to cause overactivation of PKA, but the molecular mechanisms underlying such kinase overactivity are not fully understood in the context of the canonical cAMP-dependent activation of PKA. Here, we show that oligomerization-induced sequestration of R1α from the catalytic subunit of PKA (C) is a viable mechanism of PKA activation that can explain the CNC phenotype. Read More

R Soc Open Sci 2021 Apr 14;8(4):202213. Epub 2021 Apr 14.

Department of Anthropology, Scripps Institution of Oceanography, University of California San Diego, 9500 Gillman Drive, La Jolla, CA 92093, USA.

One of the greatest archaeological enigmas is in understanding the role of decision-making, intentionality and interventions in plant life cycles by foraging peoples in transitions to and from low-level food production practices. We bring together archaeological, palaeoclimatological and botanical data to explore relationships over the past 4000 years between people and camas (), a perennial geophyte with an edible bulb common across the North American Pacific Northwest. In this region throughout the late Holocene, people began experimenting with selective harvesting practices through targeting sexually mature bulbs by 3500 cal BP, with bulb harvesting practices akin to ethnographic descriptions firmly established by 1000 cal BP. Read More

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

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

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

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

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

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

Endocrinol Diabetes Metab Case Rep 2021 Mar 28;2021. Epub 2021 Mar 28.

Section on Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland, USA.

Summary: Succinate dehydrogenase deficiency has been associated with several neoplasias, including renal cell carcinoma (RCC) and those associated with hereditary paraganglioma (PGL)/ pheochromocytoma (PHEO) syndromes, Carney dyad, and Carney triad. Carney triad is a rare multitumoral syndrome characterized by co-existing PGL, gastrointestinal stromal tumor (GIST), and pulmonary chondroma (CHO). We report a case of a 57-year-old male who presented with para-aortic and gastroesophogeal masses, and a right renal superior pole lesion, which were classified as multiple PGLs, a GIST, and a clear cell renal carcinoma, respectively, on pathology following surgical resection. Read More

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

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

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

Ann Thorac Surg 2021 Mar 20. Epub 2021 Mar 20.

- Thoracic Surgery Department, Institut du Thorax Curie-Montsouris - Institut Mutualiste Montsouris, Paris, France; - Paris 13 University, Sorbonne Paris Cité, Faculty of Medicine SMBH, Bobigny, France. Electronic address:

This report describes a 36-year-old woman with multiple gastric gastrointestinal stromal tumors, hepatic and lymphatic metastasis, and a mediastinal paraganglioma as a presentation of an incomplete Carney triad. Our purpose is to present our therapeutic approach, with emphasis on the surgical and oncological specificities of this syndrome. Read More

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

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

Rheumatology (Oxford) 2021 03 21. Epub 2021 Mar 21.

National Institutes of Health, National Heart, Lung, and Blood Institute, Bethesda, MD, USA.

Objective: Arterial calcification due to deficiency of CD73 (ACDC) is a hereditary autosomal recessive ectopic mineralization syndrome caused by loss-of-function mutations in the 5'-nucleotidase Ecto (NT5E) gene. Periarticular calcification has been reported but the clinical characterization of arthritis as well as the microstructure and chemical composition of periarticular calcifications and synovial fluid crystals has not been systematically investigated.

Methods: Eight ACDC patients underwent extensive rheumatological and radiological evaluation over a period of 11 years. Read More

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

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

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

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

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