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Cardiovasc J Afr 2019 Feb 6;30:1-4. Epub 2019 Feb 6.

Department of Cardiovascular Surgery, Florence Nightingale Hospital, Istanbul, Turkey.

Sporadic ca rdiac myxomas rarely recur, however recurrence rates are higher in patients with a familial aggregation or Carney complex. Carney complex is characterised by multiple mucocutaneous lesions and accounts for up to two-thirds of familial cardiac myxomas. A second recurrence is very rare, even in the case of Carney complex. Read More

J Pediatr Endocrinol Metab 2019 Feb;32(2):197-202

Department of Pediatrics of Centro Hospitalar de São João, Porto, Portugal.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS). It may occur sporadically or as part of a familial syndrome called Carney complex (CC). It is a rare entity, with fewer than 750 cases reported. Read More

J Assoc Res Otolaryngol 2019 Jan 28. Epub 2019 Jan 28.

Hearing Systems Group, Department of Electrical Engineering, Technical University of Denmark, Ørsteds Plads, Building 352, 2800, Lyngby, Denmark.

Several studies have shown that musical training leads to improved fundamental frequency (F) discrimination for young listeners with normal hearing (NH). It is unclear whether a comparable effect of musical training occurs for listeners whose sensory encoding of F is degraded. To address this question, the effect of musical training was investigated for three groups of listeners (young NH, older NH, and older listeners with hearing impairment, HI). Read More

Genetics 2019 Jan 25. Epub 2019 Jan 25.

Texas A&M University

courtship, although stereotypical, continually changes based on cues received from the courtship subject. Such adaptive responses are mediated via rapid and widespread transcriptomic reprogramming, a characteristic now widely attributed to microRNAs (miRNAs) along with other players. Here, we conducted a large-scale miRNA knockout screen to identify miRNAs that affect various parameters of male courtship behavior. Read More

BMC Endocr Disord 2019 Jan 22;19(1):13. Epub 2019 Jan 22.

Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Background: Increased urinary free cortisol in response to the oral administration of dexamethasone is a paradoxical reaction mainly reported in patients with primary pigmented nodular adrenocortical disease. Here, we describe the first case of subclinical Cushing's syndrome represented by autonomous cortisol secretion and paradoxical response to oral dexamethasone administration, harboring an activating mutation in the α subunit of the stimulatory G protein (GNAS).

Case Presentation: A 65-year-old woman was diagnosed with subclinical Cushing's syndrome during an evaluation for bilateral adrenal masses. Read More

Neurology 2019 Jan;92(3):e286-e287

From the Department of Diagnostic Radiology (L.-T.H., Y.-S.T.) and Department of Surgery, Institute of Cardiovascular Research Centre, Medical College (C.-D.K.), National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan, ROC.

J Cutan Pathol 2019 Feb;46(2):93-96

Department of Dermatology, The Pennsylvania State University College of Medicine, Hershey, Pennsylvania.

J Card Surg 2019 Jan 9;34(1):14-19. Epub 2019 Jan 9.

Department of Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Background: We sought to analyze clinical features and surgical results of 10 cases of cardiac myxomas in Carney complex (CNC).

Methods: Between January 2003 and December 2013, 10 patients with cardiac myxomas in CNC underwent surgical resection. Associated cardiac lesions included moderate and severe mitral regurgitation in two cases, and moderate tricuspid regurgitation in one case. Read More

Malays J Pathol 2018 Dec;40(3):343-348

University of Niš Faculty of Medicine, Scientific Research Centre for Biomedicine, Serbia, Zoran Đinđic Boulevard 81, 18000 Niš, Serbia.

Introduction: There are less than 100 cases of Large-cell calcifying Sertoli cell tumour (LCCSCT) reported in English literature. Most of them are benign, bilateral and affect paediatric population. Malignant cases occur in older patients. Read More

J Neurosci 2019 Feb 21;39(8):1471-1483. Epub 2018 Dec 21.

Carney Institute for Brain Science.

An essential human skill is our capacity to monitor and execute a sequence of tasks in the service of an overarching goal. Such a sequence can be as mundane as making a cup of coffee or as complex as flying a fighter plane. Previously, we showed that, during sequential control, the rostrolateral prefrontal cortex (RLPFC) exhibits activation that ramps steadily through the sequence and is necessary for sequential task execution using fMRI in humans (Desrochers et al. Read More

J Endocrinol 2019 Feb;240(2):R21-R45

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

While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is caused, in 15-30% of all kindreds, by inactivating mutations in the AIP gene, encoding a co-chaperone with a vast array of interacting partners and causing most commonly growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. Read More

J Surg Res 2019 Jan 22;233:459-466. Epub 2018 Sep 22.

Firefighters' Burn and Surgical Research Laboratory, MedStar Health Research Institute, Washington, DC; The Burn Center, Department of Surgery, MedStar Washington Hospital Center, Washington, DC. Electronic address:

Background: A complex inflammatory response mediates the systemic effects of burn shock. Disruption of the endothelial glycocalyx causes shedding of structural glycoproteins, primarily syndecan-1 (SDC-1), leading to endothelial dysfunction. These effects may be mitigated by resuscitative interventions. Read More

World J Clin Cases 2018 Nov;6(14):800-806

Department of Radiology, Peking Union Medical College Hospital, Beijing 100730, China.

Carney complex (CNC) is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyperfunction and myxoma. Given its diverse clinical manifestations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Read More

Am J Surg Pathol 2018 Nov 20. Epub 2018 Nov 20.

Dermatology, Feinberg School of Medicine, Northwestern University.

Pigmented epithelioid melanocytoma (PEM) is considered an intermediate grade melanocytic lesion that is histologically indistinguishable from epithelioid blue nevi associated with Carney complex. PEM are characterized by an intradermal population of heavily pigmented epithelioid-shaped melanocytes along with some spindled and dendritic melanocytes with frequent melanophages. These melanocytic tumors occasionally involve regional lymph nodes but only rarely result in distant metastases. Read More

BMC Med Educ 2018 Nov 22;18(1):275. Epub 2018 Nov 22.

Medical education and medicine, Mayo Clinic School of Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

Background: The success of initiatives intended to increase the value of health care depends, in part, on the degree to which cost-conscious care is endorsed by current and future physicians. This study aimed to first analyze attitudes of U.S. Read More

Biomed Opt Express 2018 Nov 10;9(11):5340-5352. Epub 2018 Oct 10.

Center for Biomedical Engineering, School of Engineering, Brown University, Providence, RI 02906, USA.

Doppler optical coherence tomography (OCT) is widely used for high-resolution mapping of flow velocities and is based on analysis of temporal changes in the phase of an OCT signal (i.e., how fast the OCT signal rotates in the complex plane). Read More

Am J Case Rep 2018 Nov 16;19:1366-1369. Epub 2018 Nov 16.

Fifth Surgical Clinic, Department of Surgery, National and Kapodistrian University of Athens School of Medicine, Athens, Greece.

BACKGROUND Carney complex (CNC) is a genetic disorder that presents as an adrenocorticotropic hormone (ACTH)-independent variant of endogenous Cushing syndrome. It was first reported in 1985 and was described as a form of multiple endocrine hyperplasia associated with mutations of the c-AMP-dependent protein kinase (PRKAR1A) gene that causes bilateral adrenal hyperplasia. We report a case of an incidentally found CNC in a 35-year-old male, and this case report focuses on the diagnostic scheme as well as the surgical treatment of this rare challenging condition. Read More

Exp Clin Endocrinol Diabetes 2018 Nov 14. Epub 2018 Nov 14.

Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Read More

Am J Nurs 2018 Dec;118(12):34-40

Rozina Bhimani is an assistant professor in the School of Nursing at the University of Minnesota Twin Cities, Minneapolis, where Frank Medina is a research assistant in the College of Liberal Arts and Lisa Carney-Anderson is an assistant professor in the School of Medicine, Department of Integrative Biology and Physiology. Contact author: Rozina Bhimani, This article was supported by a grant presented to Dr. Bhimani from the Nursing Foundation, School of Nursing, University of Minnesota (No. 1701-11304-21296). The authors and planners have disclosed no potential conflicts of interest, financial or otherwise.

: Neuromuscular disorders are complex, difficult both to differentiate and to manage. Yet nurses, who encounter a symptomatically diverse neuromuscular patient population in various practice settings, are expected to be well versed in managing the variable associated symptoms of these disorders. Here the authors discuss how to assess such neuromuscular conditions as muscle tightness, spasticity, and clonus; the pathophysiology underlying each; and the available recommended treatments, an understanding of which is necessary for successful symptom management and clear provider-patient communication. Read More

J Comp Neurol 2019 Jan 11;527(1):297-311. Epub 2018 Nov 11.

Department of Neuroscience and Carney Institute for Brain Science, Brown University, Providence, Rhode Island.

We have identified a novel, sixth type of intrinsically photosensitive retinal ganglion cell (ipRGC) in the mouse-the M6 cell. Its spiny, highly branched dendritic arbor is bistratified, with dendrites restricted to the inner and outer margins of the inner plexiform layer, co-stratifying with the processes of other ipRGC types. We show that M6 cells are by far the most abundant ganglion cell type labeled in adult pigmented Cdh3-GFP BAC transgenic mice. Read More

Pediatr Dev Pathol 2018 Oct 9:1093526618805354. Epub 2018 Oct 9.

2 Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.

Gastrointestinal stromal tumors (GISTs) are rare in children. Succinate dehydrogenase (SDH)-deficient GISTs are wild type and lack KIT proto-oncogene receptor tyrosine kinase and platelet-derived growth factor receptor A ( KIT or PDGFRA) mutations. These tumors result from germline SDH mutations, somatic SDH mutations, or SDH epimutants. Read More

World J Clin Cases 2018 Sep;6(10):322-334

Department of Oral Medicine, Nanjing Stomatological Hospital, Medical School of Nanjing University, Nanjing 210008, Jiangsu Province, China.

Labial and oral melanotic macules are commonly encountered in a broad range of conditions ranging from physiologic pigmentation to a sign of an underlying life-threatening disease. Although Laugier-Hunziker syndrome (LHS) shares some features of labial and oral pigmentation with a variety of conditions, it is a benign and acquired condition, frequently associated with longitudinal melanonychia. Herein, the demographic, clinical, dermoscopic, and pathological aspects of LHS were reviewed comprehensively. Read More

Asian J Neurosurg 2018 Jul-Sep;13(3):881-884

Department of Pathology, Government Medical College, Thiruvananthapuram, Kerala, India.

Melanotic schwannomas (MS) are rare variants of schwannomas the occurrence of which is described in case reports only. They usually arise from posterior spinal nerve roots and less commonly from other cells of neural crest origin. Although they are relatively benign tumors in young, aggressive behavior is reported. Read More

Endokrynol Pol 2018 27;69(6):675-681. Epub 2018 Sep 27.

Department of Endocrinology and Diabetology, The Children's Memorial Health Institute, Warsaw, Poland.

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing's syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial.

Material And Methods: We present two patients with PPNAD confirmed by genetic analysis. Read More

Childs Nerv Syst 2019 Jan 11;35(1):47-52. Epub 2018 Sep 11.

Department of Plastic Surgery, Complejo Asistencial Universitario de León, León, Spain.

Introduction: Peripheral nerve tumors type, inciedence and treatment in the pediatric population should be analyzed.

Methods: We have performed an extense literature review of this subject.

Results: incidence and distribution are similar to those observed in adults. Read More

Nat Struct Mol Biol 2018 Sep 3;25(9):877-884. Epub 2018 Sep 3.

Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA.

Nonhomologous end joining (NHEJ) is the primary pathway of DNA double-strand-break repair in vertebrate cells, yet how NHEJ factors assemble a synaptic complex that bridges DNA ends remains unclear. To address the role of XRCC4-like factor (XLF) in synaptic-complex assembly, we used single-molecule fluorescence imaging in Xenopus laevis egg extract, a system that efficiently joins DNA ends. We found that a single XLF dimer binds DNA substrates just before the formation of a ligation-competent synaptic complex between DNA ends. Read More

Neurology 2018 Aug;91(9):e884-e885

From the Departments of Neurosurgery (B.Y., Y.M., L.J.), Vascular Ultrasonography (Y.H.), Cardiovascular Surgery (D.X., K.Z.), and Anesthesiology (L.Z.), Xuanwu Hospital, Capital Medical University, Fengtai, China.

Gynecol Endocrinol 2018 Dec 21;34(12):1022-1026. Epub 2018 Aug 21.

a Department of Endocrinology, Metabolism and Internal Medicine , Poznan University of Medical Sciences , Poznan , Poland.

Hypercortisolemia in females may lead to menstrual cycle disturbances, infertility, hirsutism and acne. Herewith, we present a 18-year-old patient, who was diagnosed due to weight gain, secondary amenorrhea, slowly progressing hirsutism, acne and hot flashes. Thorough diagnostics lead to a conclusion, that the symptoms was the first manifestation of primary pigmented nodular adrenocortical disease (PPNAD). Read More

Gen Thorac Cardiovasc Surg 2018 Aug 9. Epub 2018 Aug 9.

Kanto Central Hopital, Setagaya, Tokyo, Japan.

We describe a case of Carney complex (CNC), a rare hereditary condition, that resulted in the development of cardiac myxomas. We would like to emphasize that we detected the first myxomas in both ventricles, followed by the second myxoma in the right atrium, although cardiac myxomas often originate in the left atrium. We highlight the heightened risk of recurrence and emphasize the importance of performing regular ultrasonic cardiac echography to preclude such outcomes. Read More

Presse Med 2018 Jul - Aug;47(7-8 Pt 2):e127-e137. Epub 2018 Aug 6.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Section on Endocrinology and Genetics, Bethesda, MD 20892, USA. Electronic address:

Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS). The investigations carried out on this disorder during the last two decades suggested that it could be divided into at least two entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC) (cPPNAD). Read More

Endocr Pract 2018 Oct 7;24(10):907-914. Epub 2018 Aug 7.

Objective: Cushing disease is a rare severe condition caused by pituitary tumors that secrete adrenocorticotropic hormone (ACTH), leading to excessive endogenous glucocorticoid production. Tumors causing Cushing disease, also called corticotropinomas, are typically monoclonal neoplasms that mainly occur sporadically.

Methods: Literature review. Read More

J Lab Physicians 2018 Jul-Sep;10(3):354-356

Department of Pathology, Seth GS Medical College and KEM Hospital, Acharya Donde Marg, Mumbai, Maharashtra, India.

Cutaneous myxomas are rare benign neoplasms which are frequently associated with Carney complex (CNC). Although more than 500 cases of CNC are reported, there is no literature on cytologic diagnosis of Cutaneous myxomas. An 18-year-old male, with no significant family history, presented with multiple cutaneous swellings, largest measuring 15 cm on the right cheek. Read More

Cancer Cell 2018 Aug 2;34(2):211-224.e6. Epub 2018 Aug 2.

ETH Zurich, Department of Computer Science, Zurich, Switzerland; Memorial Sloan Kettering Cancer Center, Computational Biology Department, New York, USA; University Hospital Zurich, Biomedical Informatics Research, Zurich, Switzerland; ETH Zurich, Department of Biology, Zurich, Switzerland; SIB Swiss Institute of Bioinformatics, Zurich, Switzerland. Electronic address:

Our comprehensive analysis of alternative splicing across 32 The Cancer Genome Atlas cancer types from 8,705 patients detects alternative splicing events and tumor variants by reanalyzing RNA and whole-exome sequencing data. Tumors have up to 30% more alternative splicing events than normal samples. Association analysis of somatic variants with alternative splicing events confirmed known trans associations with variants in SF3B1 and U2AF1 and identified additional trans-acting variants (e. Read More

BMJ Case Rep 2018 Aug 4;2018. Epub 2018 Aug 4.

Department of Radiology, Gotong Royong Hospital, Surabaya, East Java, Indonesia.

A 16-year-old boy presented to the emergency department with a sudden weakness on the right side of the body and was diagnosed as having embolic stroke. Later on, the patient was diagnosed as having Carney complex (CNC). The neurological complication might be caused by left atrial myxoma as a feature of CNC. Read More

Maedica (Buchar) 2018 Jun;13(2):147-151

Cardiology Department, University and Emergency Hospital, Bucharest, Romania.

Carney complex (CNC) is a rare autosomal dominant syndrome. Spotty skin pigmentation is the major clinical manifestation of CNC, followed by cardiac myxomas, benign tumors that usually present with features from the classical triad of obstructive cardiac, embolic and non-specific constitutional symptoms (NCS). NCS are caused by the overproduction of interleukin-6 (IL-6), a pro-inflammatory cytokine which mediates the induction of intercellular adhesion molecule 1 (ICAM-1) and promotes endothelial dysfunction and atherosclerosis. Read More

Case Rep Cardiol 2018 2;2018:2959041. Epub 2018 Jul 2.

Faculty of Medicine, Alexandria University, Alexandria, Egypt.

Carney complex is a rare autosomal dominant disorder characterized by multiple tumors, including cardiac and extracardiac myxomas, skin lesions, and various endocrine disorders. We are reporting a 21-year-old female patient with past surgical history significant for excision of a cutaneous myxoma who presented with multicentric cardiac myxomas involving the four cardiac chambers. She also presented with endocrinal disorders in the form of an enlarged right lobe of the thyroid, hyperthyroid state, and an incidentally noted adrenal cyst; hence, she was diagnosed with carney complex syndrome. Read More

Turk Arch Otorhinolaryngol 2018 Mar 1;56(1):47-50. Epub 2018 Mar 1.

Department of Otorhinolaryngology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Myxoma is a benign connective tissue tumor that arises mostly from the heart. Temporal bone myxomas are extremely rare and these patients should be evaluated for the Carney complex association. Herein, our aim was to present a middle ear myxoma case operated with an initial diagnosis of chronic otitis media (COM) and to underline the fact that myxomas should be kept in mind in the differential diagnosis of aural polyps. Read More

EJNMMI Res 2018 Jul 4;8(1):59. Epub 2018 Jul 4.

Department of Radiology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.

Background: Radiation injury can be indistinguishable from recurrent tumor on standard imaging. Current protocols for this differential diagnosis require one or more follow-up imaging studies, long dynamic acquisitions, or complex image post-processing; despite much research, the inability to confidently distinguish between these two entities continues to pose a significant dilemma for the treating clinician. Using mouse models of both glioblastoma and radiation necrosis, we tested the potential of poly(ADP-ribose) polymerase (PARP)-targeted PET imaging with [F]PARPi to better discriminate radiation injury from tumor. Read More

Pathol Res Pract 2018 Oct 12;214(10):1732-1737. Epub 2018 Jun 12.

Duke University Medical Center, Department of Pathology, Durham, NC, United States. Electronic address:

Squamous cell carcinoma with pseudoangiosarcomatous features is a rare but well-recognized variant of squamous cell carcinoma. These tumors exhibit complex anastomosing channels lined by neoplastic cells, histologically mimicking a vasoformative mesenchymal tumor. Immunohistochemically, the published cases expressed epithelial markers and were consistently negative for vascular markers. Read More

Adv Biosyst 2017 May 3;1(5). Epub 2017 Apr 3.

Department of Biochemistry and Molecular Medicine, School of Medicine, University of California Davis, Sacramento, CA 95817, USA. University of California Davis Comprehensive Cancer Center, Sacramento, CA 95817, USA.

All cells expel a variety of nano-sized extracellular vesicles (EVs), including exosomes, with composition reflecting the cells' biological state. Cancer pathology is dramatically mediated by EV trafficking via key proteins, lipids, metabolites, and microRNAs. Recent proteomics evidence suggests that tumor-associated exosomes exhibit distinct expression of certain membrane proteins, rendering those proteins as attractive targets for diagnostic or therapeutic application. Read More

Horm Res Paediatr 2018 15;89(6):423-433. Epub 2018 Jun 15.

Pediatric Endocrinology Unit, Cliniques universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.

Cushing syndrome (CS) is a rare disease in children, frequently associated with subtle or periodic symptoms that may delay its diagnosis. Weight gain and growth failure, the hallmarks of hypercortisolism in pediatrics, may be inconsistent, especially in ACTH-independent forms of CS. Primary pigmented nodular adrenocortical disease (PPNAD) is the rarest form of ACTH-independent CS, and can be associated with endocrine and nonendocrine tumors, forming the Carney complex (CNC). Read More

Iran J Public Health 2018 Apr;47(4):597-602

Dept. of Endocrinology, Affiliated Hospital of Zunyi Medical University, Zunyi, China.

Carney complex (CNC) is a rare genetic disease. Here, we report a case of CNC and explore clinical manifestations and gene mutation studies of CNC. A male patient with CNC at the age of 16 yr was admitted to Affiliated Hospital of Zunyi Medical University in July, 2015. Read More

Turk J Urol 2018 Jul;44(4):370-372

Department of Urology, Medeniyet University Göztepe Training and Research Hospital, İstanbul, Turkey.

Testicular sex cord-stromal tumors constitute a small portion of all types of testicular tumors. Only 1% of these tumors are pure Sertoli cell tumors. Sertoli cell tumors have three identified subgroups: large-cell calcifying (LCCSCT), sclerosing Sertoli cell and general type. Read More

Endocrinol Metab Clin North Am 2018 06;47(2):451-462

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1E-3330, MSC1103, Bethesda, MD 20892, USA.

Cushing syndrome (CS) is a multisystem disorder resulting from the prolonged exposure to excess glucocorticoids. In children, CS most commonly results from the exogenous administration of steroids and the typical presentation is height deceleration concomitant with weight gain. Endogenous and ectopic causes are rare. Read More

Surg Pathol Clin 2018 Jun 21;11(2):377-387. Epub 2018 Mar 21.

Division of Anatomic Pathology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA; Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address:

Fibrolamellar carcinoma is distinctive at clinical and histologic levels. A novel DNAJB1-PRKACA fusion gene characterizes almost all cases, distinguishes it from other hepatocellular neoplasms, and drives the pathogenesis of this unique tumor. A subset of cases of fibrolamellar carcinoma is associated with alternate mechanisms of protein kinase A activation. Read More

J Assoc Res Otolaryngol 2018 08 9;19(4):331-352. Epub 2018 May 9.

Departments of Biomedical Engineering, Neuroscience, and Electrical & Computer Engineering, Del Monte Institute for Neuroscience, University of Rochester, 601 Elmwood Ave., Box 603, Rochester, NY, 14642, USA.

An important topic in contemporary auditory science is supra-threshold hearing. Difficulty hearing at conversational speech levels in background noise has long been recognized as a problem of sensorineural hearing loss, including that associated with aging (presbyacusis). Such difficulty in listeners with normal thresholds has received more attention recently, especially associated with descriptions of synaptopathy, the loss of auditory nerve (AN) fibers as a result of noise exposure or aging. Read More

J Cardiothorac Vasc Anesth 2018 06 2;32(3):1377. Epub 2018 Feb 2.

Tufts Medical Center, Department of Anesthesiology and Perioperitive Medicine, Boston, MA.

Hum Mol Genet 2018 May 2. Epub 2018 May 2.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development,National Institutes of Health, Bethesda, MD 20892, USA.

Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene cause mostly somatotropinomas and/or prolactinomas in a subset of familial isolated pituitary adenomas (FIPA). AIP has been shown to interact with phosphodiesterases (PDEs) and G proteins, suggesting a link to the cyclic AMP (cAMP)-dependent protein kinase (PKA) pathway. Upregulation of PKA is seen in sporadic somatotropinomas that carry GNAS1 mutations, and those in Carney complex that are due to PRKAR1A mutations. Read More