1,297 results match your criteria Carney Syndrome


Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.

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

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http://dx.doi.org/10.1530/JOE-18-0446DOI Listing
February 2019

Plasma Ameliorates Endothelial Dysfunction in Burn Injury.

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

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http://dx.doi.org/10.1016/j.jss.2018.08.027DOI Listing
January 2019
1 Read

Carney complex: Two case reports and review of literature.

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

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http://dx.doi.org/10.12998/wjcc.v6.i14.800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264998PMC
November 2018
5 Reads

Distinct Genomic Patterns in Pigmented Epithelioid Melanocytoma: A Molecular and Histologic Analysis of 16 Cases.

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

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http://dx.doi.org/10.1097/PAS.0000000000001195DOI Listing
November 2018
4 Reads

Attitudes toward cost-conscious care among U.S. physicians and medical students: analysis of national cross-sectional survey data by age and stage of training.

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

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http://dx.doi.org/10.1186/s12909-018-1388-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249745PMC
November 2018
5 Reads

Doppler OCT clutter rejection using variance minimization and offset extrapolation.

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

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http://dx.doi.org/10.1364/BOE.9.005340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238902PMC
November 2018
4 Reads

Carney Syndrome Presented as a Pathological Spine Fracture in a 35-Year-Old Male.

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

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https://www.amjcaserep.com/abstract/index/idArt/911962
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http://dx.doi.org/10.12659/AJCR.911962DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251001PMC
November 2018
2 Reads

Carney Complex.

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0753-4943
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http://dx.doi.org/10.1055/a-0753-4943DOI Listing
November 2018
5 Reads

CE: Managing Movement Disorders: A Clinical Review.

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

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http://dx.doi.org/10.1097/01.NAJ.0000549666.20957.a3DOI Listing
December 2018
1 Read

A Population-Based Twin Study of Childhood Irritability and Internalizing Syndromes.

J Clin Child Adolesc Psychol 2018 Oct 30:1-11. Epub 2018 Oct 30.

a Department of Psychiatry , Virginia Commonwealth University.

Childhood irritability exhibits significant theoretical and empirical associations with depression and anxiety syndromes. The current study used the twin design to parse genetic and environmental contributions to these relationships. Children ages 9-14 from 374 twin pairs were assessed for irritability and symptoms of depression, generalized anxiety, panic, social phobia, and separation anxiety using dimensional self-report instruments. Read More

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https://www.tandfonline.com/doi/full/10.1080/15374416.2018.1
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http://dx.doi.org/10.1080/15374416.2018.1514612DOI Listing
October 2018
7 Reads

The M6 cell: A small-field bistratified photosensitive retinal ganglion cell.

J Comp Neurol 2018 Oct 12. Epub 2018 Oct 12.

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

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http://doi.wiley.com/10.1002/cne.24556
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http://dx.doi.org/10.1002/cne.24556DOI Listing
October 2018
9 Reads

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts.

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

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http://dx.doi.org/10.1177/1093526618805354DOI Listing
October 2018
10 Reads

Mystery behind labial and oral melanotic macules: Clinical, dermoscopic and pathological aspects of Laugier-Hunziker syndrome.

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

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http://dx.doi.org/10.12998/wjcc.v6.i10.322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6163135PMC
September 2018
2 Reads

Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome.

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

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http://dx.doi.org/10.4103/ajns.AJNS_353_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159093PMC
October 2018
2 Reads

Detection of new potentially pathogenic mutations in 2 patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review.

Endokrynol Pol 2018 Sep 27. Epub 2018 Sep 27.

Department of Endocrinology and Diabetology, the Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 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 2 patients with PPNAD confirmed by genetic analysis. Read More

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http://dx.doi.org/10.5603/EP.a2018.0063DOI Listing
September 2018
1 Read

Peripheral nerve injuries in the pediatric population: a review of the literature. Part III: peripheral nerve tumors in children.

Childs Nerv Syst 2018 Sep 11. 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

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http://dx.doi.org/10.1007/s00381-018-3976-6DOI Listing
September 2018
13 Reads

A single XLF dimer bridges DNA ends during nonhomologous end joining.

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

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http://www.nature.com/articles/s41594-018-0120-y
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http://dx.doi.org/10.1038/s41594-018-0120-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128732PMC
September 2018
12 Reads

Teaching NeuroImages: Internal carotid artery stenosis due to myxoma in a patient with Carney complex.

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.

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http://dx.doi.org/10.1212/WNL.0000000000006078DOI Listing
August 2018
3 Reads

Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism and secondary amenorrhea: case report and literature review.

Gynecol Endocrinol 2018 Aug 21:1-5. 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

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http://dx.doi.org/10.1080/09513590.2018.1493101DOI Listing
August 2018
2 Reads

Recurrence of cardiac myxoma in the right atrium with Carney complex following resection of myxomas in both ventricles.

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

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http://dx.doi.org/10.1007/s11748-018-0984-0DOI Listing
August 2018
8 Reads

Genetics of micronodular adrenal hyperplasia and Carney complex.

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

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https://linkinghub.elsevier.com/retrieve/pii/S07554982183028
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http://dx.doi.org/10.1016/j.lpm.2018.07.005DOI Listing
September 2018
14 Reads

PATHOGENESIS OF CUSHING DISEASE: AN UPDATE ON THE GENETICS OF CORTICOTROPINOMAS.

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

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http://journals.aace.com/doi/10.4158/EP-2018-0111
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http://dx.doi.org/10.4158/EP-2018-0111DOI Listing
October 2018
5 Reads

Cytologic diagnosis of unusual, large multiple cutaneous myxomas in a case of Carney complex.

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

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http://dx.doi.org/10.4103/0974-2727.236111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052824PMC
August 2018
2 Reads

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients.

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

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http://dx.doi.org/10.1016/j.ccell.2018.07.001DOI Listing

Embolic stroke, left atrial myxoma and gigantism in a patient with Carney complex with additional features suggestive of Marfan syndrome.

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

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http://dx.doi.org/10.1136/bcr-2018-225093DOI Listing
August 2018
3 Reads

Advanced Atherosclerosis with Leriche Syndrome, in a Patient with Carney Complex.

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

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http://dx.doi.org/10.26574/maedica.2018.13.2.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060295PMC
June 2018
11 Reads

Carney Complex: A Rare Case of Multicentric Cardiac Myxoma Associated with Endocrinopathy.

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

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http://dx.doi.org/10.1155/2018/2959041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051319PMC

The Bone Does Not Predict the Brain in Sturge-Weber Syndrome.

AJNR Am J Neuroradiol 2018 Aug 19;39(8):1543-1549. Epub 2018 Jul 19.

From the Department of Paediatric Neuroradiology (R.R.W., O.M.C., D.B., W.K.C., K.M.), Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK

Background And Purpose: It has been hypothesized that skull marrow signal alteration may represent an early disease manifestation of Sturge-Weber syndrome before development of its intracranial manifestations. We alternatively hypothesized that intraosseous changes are associated with the overlying port-wine stain rather than the intracranial stigmata of Sturge-Weber syndrome and hence are not a predictor of brain involvement.

Materials And Methods: MR imaging of children presenting with port-wine stain and/or Sturge-Weber syndrome between 1998 and 2017 was evaluated by 2 pediatric neuroradiologists for marrow signal abnormality and pial angioma and other Sturge-Weber syndrome features: ocular hemangioma, atrophy, and white matter changes (advanced myelination). Read More

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http://www.ajnr.org/lookup/doi/10.3174/ajnr.A5722
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http://dx.doi.org/10.3174/ajnr.A5722DOI Listing
August 2018
12 Reads

Myxoma of the Middle Ear Mimicking Chronic Otitis Media.

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

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http://dx.doi.org/10.5152/tao.2018.2754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6017209PMC
March 2018
16 Reads

Discriminating radiation injury from recurrent tumor with [F]PARPi and amino acid PET in mouse models.

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

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http://dx.doi.org/10.1186/s13550-018-0399-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031550PMC
July 2018
6 Reads

Metastatic squamous cell carcinoma with pseudoangiosarcomatous features and aberrant expression of vascular markers.

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

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http://dx.doi.org/10.1016/j.prp.2018.06.006DOI Listing
October 2018
7 Reads

Targeting Tumor-Associated Exosomes with Integrin-Binding Peptides.

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

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http://dx.doi.org/10.1002/adbi.201600038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001286PMC
May 2017
8 Reads

Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical Series.

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

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http://dx.doi.org/10.1159/000488761DOI Listing
November 2018
14 Reads

Clinical Manifestations and Molecular Biology of One Case of Carney Complex: A Case Report.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996328PMC
April 2018
4 Reads

Mutant ATRX: uncovering a new therapeutic target for glioma.

Expert Opin Ther Targets 2018 Jul 20;22(7):599-613. Epub 2018 Jun 20.

a Department of Neurosurgery , The University of Michigan School of Medicine , Ann Arbor , MI , USA.

Introduction: ATRX is a chromatin remodeling protein whose main function is the deposition of the histone variant H3.3. ATRX mutations are widely distributed in glioma, and correlate with alternative lengthening of telomeres (ALT) development, but they also affect other cellular functions related to epigenetic regulation. Read More

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https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1
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http://dx.doi.org/10.1080/14728222.2018.1487953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044414PMC
July 2018
12 Reads

Testis-sparing surgery of unilateral testicular large-cell calcifying Sertoli cell tumor: a sporadic case.

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

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http://dx.doi.org/10.5152/tud.2017.69345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016669PMC
July 2018
10 Reads

Cushing's Syndrome in Pediatrics: An Update.

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

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http://dx.doi.org/10.1016/j.ecl.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962291PMC
June 2018
5 Reads

Fibrolamellar Carcinoma: What Is New and Why It Matters.

Authors:
Rondell P Graham

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

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https://linkinghub.elsevier.com/retrieve/pii/S18759181183000
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http://dx.doi.org/10.1016/j.path.2018.02.006DOI Listing
June 2018
8 Reads

Supra-Threshold Hearing and Fluctuation Profiles: Implications for Sensorineural and Hidden Hearing Loss.

Authors:
Laurel H Carney

J Assoc Res Otolaryngol 2018 Aug 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

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http://dx.doi.org/10.1007/s10162-018-0669-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081887PMC
August 2018
2 Reads

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Hum Mol Genet 2018 Aug;27(16):2775-2788

Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.

Winchester syndrome (WS, MIM #277950) is an extremely rare autosomal recessive skeletal dysplasia characterized by progressive joint destruction and osteolysis. To date, only one missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14, has been reported in WS patients. Here, we report a novel hypomorphic MMP14 p. Read More

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http://dx.doi.org/10.1093/hmg/ddy168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6077784PMC
August 2018
4 Reads

Carney Complex and Cardiac Anesthesia.

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.

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http://dx.doi.org/10.1053/j.jvca.2018.01.052DOI Listing
June 2018
3 Reads

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).

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

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http://dx.doi.org/10.1093/hmg/ddy166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048987PMC
May 2018
4 Reads

Epigenetics of Metabolic Syndrome as a Mood Disorder.

Authors:
Sermin Kesebir

J Clin Med Res 2018 Jun 13;10(6):453-460. Epub 2018 Apr 13.

Uskudar University, NPIstanbul Brain Hospital, Ahmet Tevfik Ileri C. N: 18, 34768 Umraniye, Istanbul, Turkey. Email:

Mood disorders comprise major depressive disorder (MDD), bipolar disorder (BD) and the milder forms of these two disorders. Reccurring MDD is also known as unipolar disorder. The distinction between unipolar and bipolar disorders was first suggested in 1957 by Leonard and was made official after support by several studies in 1980. Read More

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http://dx.doi.org/10.14740/jocmr3389wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916533PMC
June 2018
2 Reads

Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.

Am J Med Genet A 2018 Jun 25;176(6):1438-1442. Epub 2018 Apr 25.

Department of Biology and Medical Genetics, 2nd Faculty of Medicine and University Hospital Motol, Charles University, Prague, Czech Republic.

Microdeletions of 17q24.2-q24.3 have been described in several patients with developmental and speech delay, growth retardation, and other features. Read More

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http://dx.doi.org/10.1002/ajmg.a.38711DOI Listing
June 2018
6 Reads

Stable long-term BCI-enabled communication in ALS and locked-in syndrome using LFP signals.

J Neurophysiol 2018 Jul 25;120(1):343-360. Epub 2018 Apr 25.

Carney Institute for Brain Science, Brown University , Providence, Rhode Island.

Restoring communication for people with locked-in syndrome remains a challenging clinical problem without a reliable solution. Recent studies have shown that people with paralysis can use brain-computer interfaces (BCIs) based on intracortical spiking activity to efficiently type messages. However, due to neuronal signal instability, most intracortical BCIs have required frequent calibration and continuous assistance of skilled engineers to maintain performance. Read More

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http://dx.doi.org/10.1152/jn.00493.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093965PMC
July 2018
3 Reads

Carney complex: a case with thyroid follicular adenoma without a PRKAR1A mutation.

Surg Case Rep 2018 Apr 17;4(1):34. Epub 2018 Apr 17.

Department of Digestive and General Surgery, Faculty of Medicine, Shimane University, 89-1 Enya, Izumo, Shimane, 693-8501, Japan.

Background: Carney complex (CNC) is a very rare disease. Although thyroid lesions are included in the diagnostic criteria for CNC, they are an infrequent occurrence.

Case Presentation: The patient was a 69-year-old woman who had undergone the removal of a left atrial myxoma 10 years earlier, at the age of 59. Read More

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http://dx.doi.org/10.1186/s40792-018-0438-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904097PMC
April 2018
3 Reads

An update on Cushing syndrome in pediatrics.

Ann Endocrinol (Paris) 2018 Jun 9;79(3):125-131. Epub 2018 Apr 9.

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10, Center Drive, CRC, Rm 1E-3216, 20892-1862 Bethesda, MD, USA. Electronic address:

Cushing syndrome (CS) in childhood results mostly from the exogenous administration of glucocorticoids; endogenous CS is a rare disease. The latter is the main reason pediatric patients with CS escape diagnosis for too long. Other barriers to optimal care of a pediatric patient with CS include improper following of the proper sequence of testing for diagnosing CS, which stems from lack of understanding of pathophysiology of the hypothalamic-pituitary-adrenal axis; lack of access to proper (i. Read More

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http://dx.doi.org/10.1016/j.ando.2018.03.010DOI Listing
June 2018
2 Reads

Osteopontin drives renal metabolic dysfunction in Alport syndrome.

Authors:
Ellen F Carney

Nat Rev Nephrol 2018 Jun;14(6):354

Nature Reviews Nephrology, .

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http://dx.doi.org/10.1038/s41581-018-0009-3DOI Listing
June 2018
4 Reads