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    1194 results match your criteria Carney Syndrome

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    Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex.
    BMJ Case Rep 2017 Jul 14;2017. Epub 2017 Jul 14.
    Serviço de Urologia e Transplantação Renal, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
    Carney complex is a rare genetic disease characterised by a complex of myxomas, spotty pigmentation and endocrine overactivity. At diagnosis, about one-third of male patients presents with testicular tumours, namely large cell calcifying Sertoli cell tumours, which are often multicentric and/or bilateral and have a low malignant potential. Although radical orchiectomy is the gold standard for the treatment of testicular neoplasms, a conservative approach with partial orchiectomy or tumourectomy may be the best treatment option for these patients, allowing the preservation of endocrine function, fertility and body image. Read More

    Management of Infected Mesh After Abdominal Hernia Repair: Systematic Review and Single-Institution Experience.
    Ann Plast Surg 2017 Jun 1. Epub 2017 Jun 1.
    From the *Division of Plastic Surgery, and †Division of Traumatology, Surgical Critical Care, and Emergency Surgery, Department of Surgery, University of Pennsylvania, Philadelphia, PA.
    Background: Mesh infection after abdominal hernia repair is a devastating complication that affects general and plastic surgeons alike. The purpose of this study was 3-fold: (1) to determine current evidence for treatment of infected abdominal wall mesh via systematic review of literature, (2) to analyze our single-institution experience with treatment of infected mesh patients, and (3) to establish a framework for how to approach this complex clinical problem.

    Methods: Literature search was performed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines, followed by single-institution retrospective analysis of infected mesh patients. Read More

    Next generation immunohistochemistry: Emerging substitutes to genetic testing?
    Semin Diagn Pathol 2017 Jun 27. Epub 2017 Jun 27.
    Department of Pathology, Brigham and Women's Hospital & Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
    The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes. Read More

    Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
    Genet Med 2017 Jun 22. Epub 2017 Jun 22.
    Stanford Medicine Clinical Genomics Service, Stanford Health Care, Stanford, California, USA.
    PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative. Read More

    Complexity of medical decision-making in care provided by surgeons through patient portals.
    J Surg Res 2017 Jun 8;214:93-101. Epub 2017 Mar 8.
    Department of Pediatric Surgery, Vanderbilt Children's Medical Center, Nashville, Tennessee; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Pediatrics, Vanderbilt Children's Medical Center, Nashville, Tennessee.
    Background: Patient portals are online applications that allow patients to interact with healthcare organizations and view information. Portal messages exchanged between patients and providers contain diverse types of communications, including delivery of medical care. The types of communications and complexity of medical decision-making in portal messages sent to surgeons have not been studied. Read More

    The Regulatory 1α Subunit of Protein Kinase A Modulates Renal Cystogenesis.
    Am J Physiol Renal Physiol 2017 Jun 14:ajprenal.00119.2017. Epub 2017 Jun 14.
    Mayo Clinic
    The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for Autosomal Dominant Polycystic Kidney Disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways. Read More

    Benign Large-cell Calcifying Sertoli Tumor of the Testis in a 13-Year-Old Male Patient Treated With Partial Orchiectomy.
    Urology 2017 May 24. Epub 2017 May 24.
    Department of Pediatric Urology, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA.
    Large-cell calcifying Sertoli cell tumor (LCCSCT) of the testis is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney complex (40% of tumors). The remaining 60% of tumors are sporadic. Read More

    Embryonic vascular disruption adverse outcomes: Linking high throughput signaling signatures with functional consequences.
    Reprod Toxicol 2017 Jun 17;70:82-96. Epub 2017 May 17.
    Toxicology and Environmental Research and Consulting, The Dow Chemical Company, 1803 Building, Midland, MI 48674, United States.
    Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay. Read More

    PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.
    Eur J Endocrinol 2017 Aug 18;177(2):K7-K12. Epub 2017 May 18.
    Clinical Division of Endocrinology and MetabolismDepartment of Medicine III, Medical University of Vienna, Vienna, Austria
    Context: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. Read More

    Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study.
    Histopathology 2017 May 17. Epub 2017 May 17.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
    Aims: Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney complex, an inheritable condition caused by PRKAR1A-inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. The aim of this study was to investigate the genomic landscape of MFAs and compare it with that of conventional FAs. Read More

    Practical recommendations for the choice of anticoagulants in the management of patients with atrial fibrillation on ibrutinib.
    Leuk Lymphoma 2017 May 15:1-4. Epub 2017 May 15.
    a Department of Hematology , St Vincent's Hospital , Melbourne , Australia.
    The management of AF represents a major challenge in patients with CLL, especially in elderly patients with multiple comorbidities who are representative of the majority of patients with CLL. This is especially complex in the case of ibrutinib. Many anticoagulants have potential for pharmacological interaction with ibrutinib, and ibrutinib itself has antiplatelet properties. Read More

    Dyslipidemia, weight gain, and decreased growth velocity in a 14-year-old male.
    J Clin Lipidol 2017 Mar - Apr;11(2):562-566. Epub 2017 Feb 2.
    Fort Worth Pediatrics, Cook Children's Medical Center, Fort Worth, TX, USA.
    A 14-year-old male was referred for dyslipidemia. His findings were consistent with metabolic syndrome. Although he lacked the typical physical appearance, his accelerated weight gain combined with a decreased linear growth velocity suggested Cushing syndrome. Read More

    Genetic Aspects of Pituitary Adenomas.
    Endocrinol Metab Clin North Am 2017 Jun 18;46(2):335-374. Epub 2017 Mar 18.
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK. Electronic address:
    Although most of pituitary adenomas are benign, they may cause significant burden to patients. Sporadic adenomas represent the vast majority of the cases, where recognized somatic mutations (eg, GNAS or USP8), as well as altered gene-expression profile often affecting cell cycle proteins have been identified. More rarely, germline mutations predisposing to pituitary adenomas -as part of a syndrome (eg, MEN1 or Carney complex), or isolated to the pituitary (AIP or GPR101) can be identified. Read More

    Pigmented epithelioid melanocytoma (animal-type melanoma): An institutional experience.
    J Am Acad Dermatol 2017 Aug 14;77(2):328-332. Epub 2017 Apr 14.
    Department of Dermatology, University of Rochester School of Medicine, Rochester, New York; Department of Pathology, University of Rochester School of Medicine, Rochester, New York.
    Background: Pigmented epithelioid melanocytoma (PEM) is an uncommon, recently described entity with unknown biologic behavior. There is a high rate of regional metastases, but limited evidence of distant metastases or disease-related death.

    Objective: We sought to report our series of patients given a diagnosis of PEM at our institution and provide mutational analysis of genes commonly implicated in melanoma in 2 cases. Read More

    Embryonic vascular disruption adverse outcomes: Linking high-throughput signaling signatures with functional consequences.
    Reprod Toxicol 2017 Apr 13;71:16-31. Epub 2017 Apr 13.
    Toxicology and Environmental Research and Consulting, The Dow Chemical Company, 1803 Building, Midland, MI 48674, United States.
    Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High-throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay. Read More

    [A Familial Non Medullary Thyroid Carcinoma (FNMTC) : a clinical and genetic update].
    Rev Med Liege 2016 Dec;71(12):557-561
    Service d'Endocrinologie, CHU de Liège, Site du Sart Tilman, Liège, Belgique.
    The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13. Read More

    Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma.
    J Pathol 2017 Jun;242(2):134-139
    Department of Pathology, National Taiwan University Hospital, Taipei, Taiwan.
    Cardiac myxoma is the most common cardiac tumour. Most lesions occur sporadically, but occasional lesions develop in patients with Carney complex, a syndrome characterized by cardiac myxoma, spotty pigmentation, and endocrine overactivity. Two-thirds of patients with Carney complex harbour germline mutations in PRKAR1A, which encodes the type I regulatory subunit of protein kinase A (PKA). Read More

    Familial Atrial Myxoma: Three Related Cases at an Australian Tertiary Institution.
    Ann Thorac Cardiovasc Surg 2017 Mar 29. Epub 2017 Mar 29.
    Department of Cardiothoracic Surgery, Princess Alexandra Hospital, Brisbane, Australia.
    Carney complex accounts for up to two-thirds of familial cardiac myxoma. It is a rare autosomal dominant syndrome, which is also characterized by multiple mucocutaneous lesions and endocrine tumors. We report on three first-degree relatives who underwent surgical resection at the same Australian tertiary institution. Read More

    [A Case of a Pituitary Adenoma Diagnosed as Carney Complex Syndrome in an Older Female Patient].
    No Shinkei Geka 2017 Mar;45(3):225-231
    Department of Neurosurgery, Osaka Police Hospital.
    Carney complex syndrome is an autosomal dominant familial tumor syndrome first described by Carney et al. in 1985. The diagnostic criteria include endocrine hyperactivity and spotty skin pigmentation. Read More

    An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report.
    Diagn Cytopathol 2017 Jul 9;45(7):634-639. Epub 2017 Mar 9.
    Department of Pathology, University of Alabama, Birmingham, Alabama, 35294.
    Carney Complex (CNC) is a rare autosomal dominant condition with characteristic clinical presentation, tumor development, and unique genetic mutation. We present a unique case and literature review of CNC in which two neoplasms characteristic of this complex were initially diagnosed through cytological fine needle aspirate specimens, leading to the identification of CNC, with subsequent surgical and cytogenetic confirmation. Diagn. Read More

    Bilateral primary pigmented nodular adrenal disease as a component of Carney syndrome - case report.
    Endokrynol Pol 2017 ;68(1):70-72
    Department of Rheumatology and Rehabilitation, Poznan University of Medical Sciences, Poland.
    We report a case of a 20-year-old patient with Cushing's syndrome as a component of Carney syndrome. Carney syndrome is an autosomal dominant disease with co-existing bilateral pigmented nodular adrenal disease, heart and skin myxoma, skin pigmentation, breast fibroadenoma, testicular and ovarian tumours, thyroid tumours, and pituitary adenomas. (Endokrynol Pol 2017; 68 (1): 70-72). Read More

    [Gastrointestinal stromal tumors of the stomach and precursor lesions].
    Pathologe 2017 Mar;38(2):105-111
    Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149, Münster, Deutschland.
    Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the gastrointestinal tract although they are much less frequent than epithelial tumors. In more than 60% of cases they occur in the stomach. Especially small lesions measuring ≤1 cm in diameter, so-called microscopic GIST can occur multifocally, frequently in the proximal stomach wall and sometimes as an incidental finding in a gastrectomy specimen resected for gastric cancer. Read More

    Sleep-related cognitive processes, arousal, and emotion dysregulation in insomnia disorder: the role of insomnia-specific rumination.
    Sleep Med 2017 Feb 19;30:97-104. Epub 2016 Nov 19.
    Department of Psychology, Ryerson University, Toronto, ON, Canada.
    Objective: Insomnia-specific rumination has presented in subjects with insomnia. Research has identified hyperarousal as a key factor, with both trait and state components. It has been shown that emotion dysregulation also plays a role in insomnia. Read More

    Leveraging health informatics to foster a smart systems response to health disparities and health equity challenges.
    J Biomed Inform 2017 Apr 16;68:184-189. Epub 2017 Feb 16.
    University of North Carolina, The Gillings School of Global Public Health, Department of Health Behavior, 302 Rosenau Hall, CB #7440, Chapel Hill, NC 27599-7411, United States. Electronic address:
    Informaticians are challenged to design health information technology (IT) solutions for complex problems, such as health disparities, but are achieving mixed results in demonstrating a direct impact on health outcomes. This presentation of collective intelligence and the corresponding terms of smart health, knowledge ecosystem, enhanced health disparities informatics capacities, knowledge exchange, big-data, and situational awareness are a means of demonstrating the complex challenges informatics professionals face in trying to model, measure, and manage an intelligent and smart systems response to health disparities. A critical piece in our understanding of collective intelligence for public and population health rests in our understanding of public and population health as a living and evolving network of individuals, organizations, and resources. Read More

    Trends in open abdominal surgery in the United States-Observations from 9,950,759 discharges using the 2009-2013 National Inpatient Sample (NIS) datasets.
    Am J Surg 2017 Jan 12. Epub 2017 Jan 12.
    Division of Plastic Surgery, Department of Surgery, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
    Introduction: Incisional hernia (IH) represents a complex and costly surgical complication. We aim to address trends in open surgery to better understand potential drivers of hernia risk.

    Material And Methods: Using the 2009-2013 NIS, a cross-sectional review of hospital discharges associated with an open abdominal surgery was performed. Read More

    Informatics Metrics and Measures for a Smart Public Health Systems Approach: Information Science Perspective.
    Comput Math Methods Med 2017 10;2017:1452415. Epub 2017 Jan 10.
    The Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, 1101-F McGavran-Greenberg Bldg., CB # 7411, Chapel Hill, NC 27599-7411, USA.
    Public health informatics is an evolving domain in which practices constantly change to meet the demands of a highly complex public health and healthcare delivery system. Given the emergence of various concepts, such as learning health systems, smart health systems, and adaptive complex health systems, health informatics professionals would benefit from a common set of measures and capabilities to inform our modeling, measuring, and managing of health system "smartness." Here, we introduce the concepts of organizational complexity, problem/issue complexity, and situational awareness as three codependent drivers of smart public health systems characteristics. Read More

    Applying the institutional review board data repository approach to manage ethical considerations in evaluating and studying medical education.
    Med Educ Online 2016 Jan;21(1):32021
    a Department of Family Medicine , Oregon Health & Science University , Portland , OR , USA.
    Issue Medical educators and educational researchers continue to improve their processes for managing medical student and program evaluation data using sound ethical principles. This is becoming even more important as curricular innovations are occurring across undergraduate and graduate medical education. Dissemination of findings from this work is critical, and peer-reviewed journals often require an institutional review board (IRB) determination. Read More

    Fibrolamellar carcinoma: A histologically unique tumor with unique molecular findings.
    Semin Diagn Pathol 2017 Mar 23;34(2):146-152. Epub 2016 Dec 23.
    Division of Anatomic Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, United States.
    Fibrolamellar carcinoma is a unique type of hepatocellular carcinoma with a distinctive predilection for young patients without underlying liver disease, characteristic large neoplastic cells with intervening, dense fibrosis, co-expression of keratin 7 and CD68 and activation of protein kinase A (most often by formation of DNAJB1-PRKACA). Fibrolamellar carcinoma has a similar prognosis to conventional hepatocellular carcinomas arising in non-cirrhotic livers. The current American Joint Cancer Committee staging system does not provide optimal stratification of patients with fibrolamellar carcinoma and an alternate systems should be considered in the future. Read More

    Epilepsy and restless legs syndrome.
    Epilepsy Behav 2017 Mar 19;68:41-44. Epub 2017 Jan 19.
    Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
    Objective: Restless legs syndrome (RLS) is a common neurological movement disorder occurring in approximately 10% of the general population. The prevalence of moderately severe RLS is 2.7% overall (3. Read More

    Extraction chromatographic separations of tantalum and tungsten from hafnium and complex matrix constituents.
    J Chromatogr A 2017 Feb 8;1484:1-6. Epub 2017 Jan 8.
    Pacific Northwest National Laboratory, PO Box 999, MSIN J4-80, 902 Battelle Blvd, Richland, WA, 99352, USA.
    Tantalum (Ta), hafnium (Hf), and tungsten (W) analyses from complex matrices require high purification of these analytes from each other and major/trace matrix constituents, however, current state-of-the-art Ta/Hf/W separations rely on traditional anion exchange approaches that show relatively similar distribution coefficient (Kd) values for each element. This work reports an assessment of three commercially available extraction chromatographic resins (TEVA, TRU, and UTEVA) for Ta/Hf/W separations. Batch contact studies show differences in Ta/Hf and Ta/W Kd values of up to 10(6) and 10(4) (respectively), representing an improvement of a factor of 100 and 300 in Ta/Hf and Ta/W Kd values (respectively) over AG1×4 resin. Read More

    Widespread Virus Replication in Alveoli Drives Acute Respiratory Distress Syndrome in Aerosolized H5N1 Influenza Infection of Macaques.
    J Immunol 2017 Feb 6;198(4):1616-1626. Epub 2017 Jan 6.
    Center for Vaccine Research, University of Pittsburgh, Pittsburgh, PA 15261;
    Human infections with highly pathogenic avian influenza A (H5N1) virus are frequently fatal but the mechanisms of disease remain ill-defined. H5N1 infection is associated with intense production of proinflammatory cytokines, but whether this cytokine storm is the main cause of fatality or is a consequence of extensive virus replication that itself drives disease remains controversial. Conventional intratracheal inoculation of a liquid suspension of H5N1 influenza virus in nonhuman primates likely results in efficient clearance of virus within the upper respiratory tract and rarely produces severe disease. Read More

    Complex Truncal Masses in the Setting of CLOVES Syndrome: Aesthetic and Functional Implications.
    Aesthetic Plast Surg 2017 Jun 28;41(3):591-599. Epub 2016 Dec 28.
    Division of Plastic Surgery, Department of Surgery, University of Pennsylvania, 14th Floor South Pavilion, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
    Background: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies. Read More

    Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.
    Pediatr Blood Cancer 2017 Jun 24;64(6). Epub 2016 Dec 24.
    Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.
    Melanotic schwannoma (MS) is a soft tissue neoplasm that shares histologic features with melanocytic tumors and schwannomas. A type of MS, called psammomatous MS (PMS), is associated with Carney complex (CNC), which is caused by PRKAR1A mutations. Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. Read More

    Osteochondromyxoma: Review of a rare carney complex criterion.
    J Bone Oncol 2016 Nov 12;5(4):194-197. Epub 2016 Jul 12.
    Department of Surgery, Baylor College of Medicine, Houston, TX, United States.
    Osteochondromyxoma is an extremely rare bone tumor associated with 1% of Carney complex patients and constitutes one of its 11 diagnostic criteria. This narrative review of osteochondromyxoma is based on a search of all references to the topic in PubMed, Web Of Science, SCOPUS, ScienceDirect, and JSTOR databases. Special attention was focused on case reports, leading to a review encompassing the case reports to date, as well as related animal model studies. Read More

    Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.
    Rev Endocr Metab Disord 2016 Sep;17(3):381-388
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA.
    We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. Read More

    Carney complex: A familial lentiginosis predisposing to a variety of tumors.
    Rev Endocr Metab Disord 2016 Sep;17(3):367-371
    Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA.
    Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer. Read More

    Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients.
    Am J Surg Pathol 2017 Feb;41(2):171-181
    *Department of Internal Medicine †Division of Endocrinology, Diabetes, Metabolism and Nutrition §Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN ‡Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
    Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Read More

    An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors.
    J Thorac Dis 2016 Oct;8(10):E1202-E1206
    Department of General Thoracic Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
    Carney triad is a rare syndrome that involves gastrointestinal stromal tumor (GIST), pulmonary chondroma and extra-adrenal paraganglioma. Patients presenting GIST and pulmonary chondroma account for 72.7% of all incomplete Carney triad cases. Read More

    Elder Orphans Hiding in Plain Sight: A Growing Vulnerable Population.
    Curr Gerontol Geriatr Res 2016 23;2016:4723250. Epub 2016 Oct 23.
    Maimonides Medical Center, Icahn School of Medicine at Mount Sinai, Brooklyn, NY 11219, USA.
    Adults are increasingly aging alone with multiple chronic diseases and are geographically distant from family or friends. It is challenging for clinicians to identify these individuals, often struggling with managing the growing difficulties and the complexities involved in delivering care to this population. Clinicians often may not recognize or know how to address the needs that these patients have in managing their own health. Read More

    Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.
    J Mol Biol 2016 Dec 5;428(24 Pt B):4890-4904. Epub 2016 Nov 5.
    Department of Chemistry and Biochemistry, University of California at San Diego, La Jolla, CA 92093, USA; Department of Pharmacology, University of California at San Diego, La Jolla, CA 92093, USA. Electronic address:
    Most disease-related mutations that impair cAMP protein kinase A (PKA) signaling are present within the regulatory (R) PKA RI alpha-subunit (RIα). Although mutations in the PRKAR1A gene are linked to Carney complex (CNC) disease and, more recently, to acrodysostosis-1 (ACRDYS1), the two diseases show contrasting phenotypes. While CNC mutations cause increased PKA activity, ACRDYS1 mutations result in decreased PKA activity and cAMP resistant holoenzymes. Read More

    Familial non-medullary thyroid cancer: unraveling the genetic maze.
    Endocr Relat Cancer 2016 Dec 2;23(12):R577-R595. Epub 2016 Nov 2.
    Cancer Genetics ServiceDivision of Medical Oncology, National Cancer Centre, Singapore, Singapore
    Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. Read More

    Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis.
    Endocr Relat Cancer 2017 Jan 1;24(1):31-40. Epub 2016 Nov 1.
    Section on Endocrinology and GeneticsProgram on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA
    Carney complex (CNC) is a rare disease associated with multiple neoplasias, including a predisposition to pancreatic tumors; it is caused most frequently by the inactivation of the PRKAR1A gene, a regulator of the cyclic AMP (cAMP)-dependent kinase (PKA). The method used was to create null alleles of prkar1a in mouse cells expressing pdx1 (Δ-Prkar1a). We found that these mice developed endocrine or mixed endocrine/acinar cell carcinomas with 100% penetrance by the age of 4-5 months. Read More

    The World Health Organization 2016 classification of testicular non-germ cell tumours: a review and update from the International Society of Urological Pathology Testis Consultation Panel.
    Histopathology 2017 Mar 23;70(4):513-521. Epub 2016 Dec 23.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
    The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification, and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of germ cell tumours; however, several modifications were also made for non-germ cell tumours. Read More

    Computed Optical Interferometric Imaging: Methods, Achievements, and Challenges.
    IEEE J Sel Top Quantum Electron 2016 May-Jun;22(3). Epub 2015 Nov 2.
    Beckman Institute for Advanced Science and Technology, also with the Departments of Electrical and Computer Engineering, Bioengineering, and Internal Medicine, University of Illinois at Urbana-Champaign, Urbana, IL 61801 USA.
    Three-dimensional high-resolution optical imaging systems are generally restricted by the trade-off between resolution and depth-of-field as well as imperfections in the imaging system or sample. Computed optical interferometric imaging is able to overcome these longstanding limitations using methods such as interferometric synthetic aperture microscopy (ISAM) and computational adaptive optics (CAO) which manipulate the complex interferometric data. These techniques correct for limited depth-of-field and optical aberrations without the need for additional hardware. Read More

    Screening for genetic causes of growth hormone hypersecretion.
    Growth Horm IGF Res 2016 Oct - Dec;30-31:52-57. Epub 2016 Oct 12.
    Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium. Electronic address:
    Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. Read More

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