1,316 results match your criteria Carney Syndrome


Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation.

Endocrinol Diabetes Metab Case Rep 2019 Mar 21;2019. Epub 2019 Mar 21.

Departments of Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, Minnesota, USA.

Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa in association with various non-endocrine and endocrine tumors, including primary pigmented nodular adrenocortical disease (PPNAD). A 20-year-old woman was referred for suspected Cushing syndrome. She had signs of cortisol excess as well as skin lentigines on physical examination. Read More

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http://dx.doi.org/10.1530/EDM-18-0150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432981PMC
March 2019
2 Reads

Pigmented Melanotic Schwannoma of the Neck: Report of 2 Cases and Review of the Literature.

Ear Nose Throat J 2019 Feb 13;98(2):102-106. Epub 2019 Feb 13.

1 Department of Otolaryngology-Head and Neck Surgery, Thomas Jefferson University, Philadelphia, PA, USA.

Background:: Melanotic schwannoma is a rare tumor with indeterminate biologic behavior and varying treatment recommendations.

Methods:: We report 2 cases of pigmented melanotic schwannoma of the head and neck and perform literature review. The pathologic and immunohistochemical characteristics of melanotic schwannoma are reviewed. Read More

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http://dx.doi.org/10.1177/0145561319826542DOI Listing
February 2019
1 Read

Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.

J Pediatr Endocrinol Metab 2019 Apr;32(4):391-397

Department of Endocrinology and Metabolism, Seth G S Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

Background Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing's syndrome (CS) in childhood. We describe a case series of patients presenting at our centre along with a review of the literature. Methods A retrospective analysis of six index cases and one family were done for demographic features, hormonal profile, imaging findings, genetic mutation status, histopathologic findings and follow-up details. Read More

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http://dx.doi.org/10.1515/jpem-2018-0413DOI Listing
April 2019
1 Read

Hyperglycemia and Hypokalemia in a 16-Year-Old Overweight Female Patient Misdiagnosed with Cushing Syndrome at First and Ultimately Diagnosed with Carney Complex Proven by PRKAR1A Gene Test: a Case Report and Literature Review.

Clin Lab 2019 Mar;65(3)

Background: Here we report on a 16-year-old female patient with typical Cushingoid features who was admitted because of purple striae, menostasis, and microsomia for 1 year, and laboratory tests showed hyperglycemia and hypokalemia.

Methods: For diagnosis, we employed a hormone test, abdominal and pituitary computed tomography scan, ultrasonography to detect endocrine and cardiocutaneous lesions. DNA sequencing to detect PRKAR1A gene mutation to make differential diagnosis for Cushing Syndrome. Read More

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http://dx.doi.org/10.7754/Clin.Lab.2018.180805DOI Listing
March 2019
4 Reads

A case of metastatic adrenocortical carcinoma.

Authors:
N Kuthiah C Er

Oxf Med Case Reports 2019 Feb 27;2019(2):omz006. Epub 2019 Feb 27.

General Medicine, Alexandra Health System Woodlands Health Campus, Singapore.

Adrenocortical carcinoma is a rare endocrine malignancy with poor prognosis. Adrenocortical carcinoma can be seen in familial syndromes such as multiple endocrine neoplasia 1(MEN-1), Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and Carney complex (Kjellman, M, Roshani, L, The, BT . Genotyping of adrenocortical tumours: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16. Read More

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http://dx.doi.org/10.1093/omcr/omz006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402308PMC
February 2019
2 Reads

IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.

Sci Transl Med 2019 Feb;11(479)

Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1) are younger at diagnosis and live longer. mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 ) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene (). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1 mutation. Read More

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http://dx.doi.org/10.1126/scitranslmed.aaq1427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400220PMC
February 2019
2 Reads

Second recurrence of familial atrial myxomas: mother and daughter simultaneously.

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

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http://dx.doi.org/10.5830/CVJA-2019-008DOI Listing
February 2019

Cell therapy for ARDS: efficacy of endobronchial versus intravenous administration and biodistribution of MAPCs in a large animal model.

BMJ Open Respir Res 2019 12;6(1):e000308. Epub 2019 Jan 12.

The Dorothy P. and Richard P. Simmons Center for Interstitial Lung Diseases, Pittsburgh, Pennsylvania, USA.

Introduction: Bone marrow-derived multipotent adult progenitor cells (MAPCs) are adult allogeneic adherent stem cells currently investigated clinically for use in acute respiratory distress syndrome (ARDS). To date, there is no agreement on which is the best method for stem cells delivery in ARDS. Here, we compared the efficacy of two different methods of administration and biodistribution of MAPC for the treatment of ARDS in a sheep model. Read More

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http://dx.doi.org/10.1136/bmjresp-2018-000308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339992PMC
January 2019
2 Reads

Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report.

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

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0199DOI Listing
February 2019
10 Reads
0.711 Impact Factor

Effects of Musical Training and Hearing Loss on Fundamental Frequency Discrimination and Temporal Fine Structure Processing: Psychophysics and Modeling.

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

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http://link.springer.com/10.1007/s10162-018-00710-2
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http://dx.doi.org/10.1007/s10162-018-00710-2DOI Listing
January 2019
6 Reads

The Role of miRNAs in Male Courtship Behavior.

Genetics 2019 03 25;211(3):925-942. Epub 2019 Jan 25.

Department of Biology, Texas A&M University, College Station, Texas 77843

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

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http://dx.doi.org/10.1534/genetics.118.301901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6404249PMC
March 2019
2 Reads

A case of autonomous cortisol secretion in a patient with subclinical Cushing's syndrome, GNAS mutation, and paradoxical cortisol response to dexamethasone.

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

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http://dx.doi.org/10.1186/s12902-019-0345-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343241PMC
January 2019
2 Reads

Teaching NeuroImages: CRAO and silent brain infarcts caused by cardiac myxomas in Carney complex.

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.

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http://dx.doi.org/10.1212/WNL.0000000000006787DOI Listing
January 2019
2 Reads

Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex.

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

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

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http://dx.doi.org/10.1111/cup.13385DOI Listing
February 2019
3 Reads

Clinical features and surgical results of cardiac myxoma in Carney complex.

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

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http://doi.wiley.com/10.1111/jocs.13980
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http://dx.doi.org/10.1111/jocs.13980DOI Listing
January 2019
15 Reads

Large-cell calcifying Sertoli cell tumour with macrocalcification in partially resected testis of young adult patient.

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

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December 2018
12 Reads

Sequential Control Underlies Robust Ramping Dynamics in the Rostrolateral Prefrontal Cortex.

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

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http://dx.doi.org/10.1523/JNEUROSCI.1060-18.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381259PMC
February 2019
1 Read

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
2 Reads

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
3 Reads

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
18 Reads

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

Am J Surg Pathol 2019 Apr;43(4):480-488

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
April 2019
16 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
16 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
14 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
12 Reads

Carney Complex.

Exp Clin Endocrinol Diabetes 2019 Feb 14;127(2-03):156-164. 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
February 2019
14 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
2 Reads

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
20 Reads

Viral detection profile in children with severe acute respiratory infection.

Braz J Infect Dis 2018 Sep - Oct;22(5):402-411. Epub 2018 Oct 23.

Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil.

Objectives: The role of viral co-detection in children with severe acute respiratory infection is not clear. We described the viral detection profile and its association with clinical characteristics in children admitted to the Pediatric Intensive Care Unit (PICU) during the 2009 influenza A(H1N1) pandemic.

Method: Longitudinal observational retrospective study, with patients aged 0-18 years, admitted to 11 PICUs in Rio de Janeiro, with suspected H1N1 infection, from June to November, 2009. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14138670183034
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http://dx.doi.org/10.1016/j.bjid.2018.09.001DOI Listing
January 2019
19 Reads

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

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

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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
January 2019
17 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
22 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
4 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
6 Reads

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

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

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http://dx.doi.org/10.5603/EP.a2018.0063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347113PMC
April 2019
8 Reads

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

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

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http://link.springer.com/10.1007/s00381-018-3976-6
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http://dx.doi.org/10.1007/s00381-018-3976-6DOI Listing
January 2019
23 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
22 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
14 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 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

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http://dx.doi.org/10.1080/09513590.2018.1493101DOI Listing
December 2018
7 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
9 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
17 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
15 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
3 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
August 2018
1 Read

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
5 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
20 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
July 2018
2 Reads

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
15 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
36 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
12 Reads