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    1255 results match your criteria Carney Syndrome

    1 OF 26

    Cushing's Syndrome in Pediatrics: An Update.
    Endocrinol Metab Clin North Am 2018 Jun;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

    Fibrolamellar Carcinoma: What Is New and Why It Matters.
    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

    Supra-Threshold Hearing and Fluctuation Profiles: Implications for Sensorineural and Hidden Hearing Loss.
    J Assoc Res Otolaryngol 2018 May 9. 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

    Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
    Hum Mol Genet 2018 May 8. Epub 2018 May 8.
    Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), 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

    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

    Epigenetics of Metabolic Syndrome as a Mood Disorder.
    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

    Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
    Am J Med Genet A 2018 Apr 25. 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

    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

    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

    The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma.
    Am J Surg Pathol 2018 May;42(5):587-594
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
    The initial description of Carney complex (CNC) in 1985 included myxomas, spotty skin pigmentation, and endocrine overactivity (of the adrenal, the pituitary, and the testis). In 1997, thyroid neoplasms were found in 3 patients with CNC and involvement of the gland in the syndrome was apparent. Herein, we describe the clinical, pathologic, and follow-up findings in 26 patients with CNC and a disorder of the thyroid gland. Read More

    Molecular Characterization and Clinical Relevance of Metabolic Expression Subtypes in Human Cancers.
    Cell Rep 2018 Apr;23(1):255-269.e4
    Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Department of Systems Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; Graduate Program in in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:
    Metabolic reprogramming provides critical information for clinical oncology. Using molecular data of 9,125 patient samples from The Cancer Genome Atlas, we identified tumor subtypes in 33 cancer types based on mRNA expression patterns of seven major metabolic processes and assessed their clinical relevance. Our metabolic expression subtypes correlated extensively with clinical outcome: subtypes with upregulated carbohydrate, nucleotide, and vitamin/cofactor metabolism most consistently correlated with worse prognosis, whereas subtypes with upregulated lipid metabolism showed the opposite. Read More

    The Bedside Capacity Assessment Tool: Further Development of a Clinical Tool to Assist with a Growing Aging Population with Increased Healthcare Complexities.
    J Clin Ethics 2018 ;29(1):43-51
    Zucker Hillside Hospital at Northwell Health, Department of Psychiatry, Zucker School of Medicine, Hempstead, New York USA.
    Background: As the population of the United States ages, chronic diseases increase and treatment options become technologically more complicated. As such, patients' autonomy, or the right of patients to accept or refuse a medical treatment, may become a more pressing and complicated issue. This autonomy rests upon a patient's capacity to make a decision. Read More

    Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree.
    Medicine (Baltimore) 2018 Mar;97(12):e0247
    Department of Cardiothoracic Surgery, Changzheng Hospital, the Second Military Medical University, Shanghai, China.
    Rationale: Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection. Read More

    Left ventricular myxoma with Carney complex.
    ESC Heart Fail 2018 Mar 15. Epub 2018 Mar 15.
    Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
    The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. Read More

    [Asymptomatic Cardiac Myxoma Complicated with Carney Complex;Report of a Case].
    Kyobu Geka 2018 Feb;71(2):120-123
    Department of Cardiovascular Surgery, Yokohama Rosai Hospital, Yokohama, Japan.
    Carney complex(CNC) is a rare genetic syndrome, characterized by spotty pigmentation of the skin, cardiac myxomas and multiple endocrine tumors. We present a case of asymptomatic cardiac myxoma associated with CNC. She was 49 year-old healthy woman whose son was known to have CNC. Read More

    Gender-Affirming Surgery in Persons with Gender Dysphoria.
    Plast Reconstr Surg 2018 Mar;141(3):388e-396e
    Philadelphia, Pa. From the Division of Plastic Surgery, University of Pennsylvania; Drexel University College of Medicine; and the College of Public Health, Temple University.
    The landscape of gender dysphoria has changed dramatically in recent years secondary to increased societal acceptance, legislative changes, and medical providers' increased awareness of the associated psychosocial burden associated with the diagnosis. National and global advocacy efforts, in conjunction with expanded third-party insurance coverage, have resulted in new health care opportunities for patients suffering from gender dysphoria. Delivering quality, streamlined health care to these patients requires a complex multidisciplinary approach, involving multiple medical and mental health disciplines, including plastic surgeons. Read More

    Gastrointestinal Stromal Tumors: The GIST of Precision Medicine.
    Trends Cancer 2018 Jan 23;4(1):74-91. Epub 2017 Dec 23.
    VCU Massey Cancer Center, Virginia Commonwealth University, Richmond, VA, USA. Electronic address:
    The discovery of activated KIT mutations in gastrointestinal (GI) stromal tumors (GISTs) in 1998 triggered a sea change in our understanding of these tumors and has ushered in a new paradigm for the use of molecular genetic diagnostics to guide targeted therapies. KIT and PDGFRA mutations account for 85-90% of GISTs; subsequent genetic studies have led to the identification of mutation/epimutation of additional genes, including the succinate dehydrogenase (SDH) subunit A, B, C, and D genes. This review focuses on integrating findings from clinicopathologic, genetic, and epigenetic studies, which classify GISTs into two distinct clusters: an SDH-competent group and an SDH-deficient group. Read More

    Carney complex with PRKAR1A gene mutation: A case report and literature review.
    Medicine (Baltimore) 2017 Dec;96(50):e8999
    Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing.
    Rationale: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. Read More

    Pathology of Melanotic Schwannoma.
    Arch Pathol Lab Med 2018 Jan 26. Epub 2018 Jan 26.
    From the Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, Chicago, Illinois (Dr Alexiev); and the Department of Pathology, Ann and Robert H. Lurie Children's Hospital of Chicago, Illinois (Drs Chou and Jennings).
    Context: - Melanotic schwannoma (MS) is a nerve sheath tumor with a uniform composition of variably melanin-producing Schwann cells and metastatic potential. The MS is an uncommon neoplasm, accounting for less than 1% of all nerve sheath tumors, with a predilection for spinal nerve involvement. Microscopically, the tumors are characterized by spindle and epithelioid cells arranged in interlacing fascicles, with marked accumulation of melanin in neoplastic cells and associated melanophages. Read More

    The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
    Lab Invest 2018 Apr 16;98(4):414-426. Epub 2018 Jan 16.
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
    The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate. Read More

    A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
    J Endocrinol Invest 2018 Jan 9. Epub 2018 Jan 9.
    Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
    Background: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC.

    Methods: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Read More

    Gastric gastrointestinal stromal tumor with osseous differentiation and stromal calcification: A case report and review of literature.
    SAGE Open Med Case Rep 2017 21;5:2050313X17746310. Epub 2017 Dec 21.
    Anatomic pathology department, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
    Gastrointestinal stromal tumors are the most common primary mesenchymal tumors of the gastrointestinal tract accounting for 0.1%-3.0% of all gastrointestinal malignancies. Read More

    Corticotropinoma as a Component of Carney Complex.
    J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
    Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown. In this study, we report a case of Cushing disease (CD) due to a loss-of-function mutation in , providing evidence for association of this gene with a corticotropinoma. A 15-year-old male presenting with hypercortisolemia was diagnosed with CD. Read More

    Harvey Cushing Treated the First Known Patient With Carney Complex.
    J Endocr Soc 2017 Oct 28;1(10):1312-1321. Epub 2017 Sep 28.
    Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
    Context: Carney complex (CNC) is a syndrome characterized by hyperplasia of endocrine organs and may present with clinical features of Cushing syndrome and acromegaly due to functional adrenal and pituitary gland tumors. CNC has been linked to mutations in the regulatory subunit of protein kinase A type I-alpha () gene.

    Design: Tissue samples were taken from the hypothalamus or thalamus or tumors of patients with pituitary adenomas seen and operated on by neurosurgeon Harvey Cushing between 1913 and 1932. Read More

    Recurrent somatic mutations of in isolated cardiac myxoma.
    Oncotarget 2017 Nov 19;8(61):103968-103974. Epub 2017 Oct 19.
    Scientific Research Center for Translational Medicine, Department of Biotechnology, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, Dalian, China.
    Background: Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in . Seven percent of cardiac myxomas are associated with CNC. Read More

    Hereditary and familial thyroid tumours.
    Histopathology 2018 Jan;72(1):70-81
    Massachusetts General Hospital, Boston, MA, USA.
    The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More

    Succinate dehydrogenase (SDH)-deficient neoplasia.
    Histopathology 2018 Jan;72(1):106-116
    Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, NSW, Australia.
    The succinate dehydrogenase (SDH) complex is a key respiratory enzyme composed of four subunits: SDHA, SDHB, SDHC and SDHD. Remarkably, immunohistochemistry for SDHB becomes negative whenever there is bi-alleic inactivation of any component of SDH, which is very rare in the absence of syndromic disease. Therefore, loss of SDHB immunohistochemistry serves as a marker of syndromic disease, usually germline mutation of one of the SDH subunits. Read More

    Carney Complex: Eleven Open Heart Operations in a Single Family.
    Korean J Thorac Cardiovasc Surg 2017 Dec 5;50(6):471-473. Epub 2017 Dec 5.
    Department of Thoracic and Cardiovascular Surgery, Chungnam National University School of Medicine.
    Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. Read More

    Genetics of tumors of the adrenal cortex.
    Endocr Relat Cancer 2018 Mar 12;25(3):R131-R152. Epub 2017 Dec 12.
    Institut CochinINSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France
    This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD), which can be sporadic or part of Carney complex and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of the tumors suggests the existence of an underlying genetic predisposition. Read More

    Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion.
    Hepatology 2017 Dec 9. Epub 2017 Dec 9.
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
    Fibrolamellar carcinomas are characterized by activation of protein kinase A, a kinase composed of catalytic and regulatory subunits. PRKACA encodes a catalytic subunit of protein kinase A, and almost all fibrolamellar carcinomas have a heterozygous 400-kb deletion that leads to the fusion of DNAJB1 and PRKACA. The resulting DNAJB1-PRKACA fusion transcript is believed to activate protein kinase A by dysregulation of the catalytic portion of the protein. Read More

    Primary cardiac tumors associated with genetic syndromes: a comprehensive review.
    Pediatr Radiol 2018 Feb 6;48(2):156-164. Epub 2017 Dec 6.
    Division of Cardiothoracic Radiology, Department of Radiology, University of Michigan Health System, University Hospital Floor B1 Reception C, 1500 E. Medical Center Drive SPC 5030, Ann Arbor, MI, 48109, USA.
    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. Read More

    Cyclic AMP-dependent protein kinase catalytic subunit A (PRKACA): the expected, the unexpected, and what might be next.
    J Pathol 2018 Mar 2;244(3):257-259. Epub 2018 Jan 2.
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH and Section on Endocrinology and Genetics (SEGEN), NICHD, NIH, Bethesda, USA.
    Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970s), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition. Read More

    Carney complex review: Genetic features.
    Endocrinol Diabetes Nutr 2018 Jan 20;65(1):52-59. Epub 2017 Nov 20.
    Sección de Endocrinología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
    Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Read More

    Failure to Thrive in the Context of Carney Complex.
    Horm Res Paediatr 2018 21;89(1):38-46. Epub 2017 Nov 21.
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
    Background/aims: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT).

    Methods: A retrospective case series of pediatric patients with CNC presenting with FTT. Read More

    Cyto-Histo Correlation of a Very Rare Tumor: Superficial Angiomyxoma.
    J Cytol 2017 Oct-Dec;34(4):230-232
    Department of Pathology, Maulana Azad Medical College and Associated Hospitals, New Delhi, India.
    Superficial angiomyxoma (SA) is one of the superficially located myxoid soft tissue tumor. Because of the rarity of this tumor, there is paucity of fine needle aspiration cytology (FNAC) findings. Here, we present a case of SA in a 14-year-old girl who presented with a left leg swelling. Read More

    Melanotic Schwannomas Are Rarely Seen Pigmented Tumors with Unpredictable Prognosis and Challenging Diagnosis.
    Case Rep Pathol 2017 3;2017:1807879. Epub 2017 Oct 3.
    Tepecik Education and Research Hospital, Izmir, Turkey.
    Melanotic Schwannoma (MS) is rarely seen and potentially malignant neoplasm that is categorized as a variant of Schwannoma. MS most frequently involves intracranial structures followed by posterior nerve roots in the spinal canal. Approximately 50% of the cases with MS have psammomatous calcifications and this type of MS is related to Carney complex with autosomal dominant inheritance. Read More

    Intracranial melanotic schwannomas: a rare variant with unusual adherent features.
    J Neurooncol 2018 Jan 2;136(2):299-306. Epub 2017 Nov 2.
    Department of Neurological Surgery, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL, 32224, USA.
    Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). Read More

    Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome.
    Endocrine 2018 Jan 1;59(1):183-190. Epub 2017 Nov 1.
    Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Beijing, China.
    Objective: To evaluate the cut-off value of the ratio of 24 h urinary free cortisol (24 h UFC) levels post-dexamethasone to prior-dexamethasone in dexamethasone suppression test (DST) during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome.

    Design: Retrospective study.

    Participants: The patients diagnosed with primary pigmented nodular adrenocortical disease (PPNAD, n = 25), bilateral macronodular adrenal hyperplasia (BMAH, n = 27), and adrenocortical adenoma (ADA, n = 84) were admitted to the Peking Union Medical College Hospital from 2001 to 2016. Read More

    Formant-frequency discrimination of synthesized vowels in budgerigars (Melopsittacus undulatus) and humans.
    J Acoust Soc Am 2017 Oct;142(4):2073
    Department of Biomedical Engineering, University of Rochester, Rochester, New York 14642, USA.
    Vowels are complex sounds with four to five spectral peaks known as formants. The frequencies of the two lowest formants, F1and F2, are sufficient for vowel discrimination. Behavioral studies show that many birds and mammals can discriminate vowels. Read More

    68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad.
    Clin Nucl Med 2017 Dec;42(12):e527-e528
    From the Departments of *Nuclear Medicine, and †Diagnostic and Interventional Radiology, Hannover Medical School, Hannover, Germany.
    Carney triad is a very rare syndrome characterized by the synchronous or metachronous occurrence of gastrointestinal stromal tumors, pulmonary chondroma, and extra-adrenal paraganglioma. We present the case of a 36-year-old woman with complete Carney triad who underwent a Ga-DOTA-TATE PET/CT scan for restaging of metastasizing extra-adrenal paraganglioma and for evaluation of targeted radionuclide therapy potential. On the Ga-DOTA-TATE PET scan, increased tracer accumulation was observed in paraganglioma metastases. Read More

    Synthesis and Crystal Structures of Volatile Neptunium(IV) β-Diketonates.
    Inorg Chem 2017 Nov;56(21):13553-13561
    Global Security & International Safeguards, Idaho National Laboratory , Idaho Falls, Idaho 83401, United States.
    Production of certified reference materials in support of domestic nuclear forensics programs require volatile precursors for introduction into electromagnetic isotopic separation instruments. β-Diketone chelates of tetravalent actinides are known for their high volatility, but previously developed synthetic approaches require starting material (NpCl) that is prohibitively difficult and hazardous to prepare. An alternative strategy was developed here that uses controlled potential electrolysis to reduce neptunium to the tetravalent state in submolar concentrations of hydrochloric acid. Read More

    Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature.
    Endokrynol Pol 2017 12;68(6):697-707. Epub 2017 Oct 12.
    Department of Endocrinology, Medical University of Lublin, Poland.
    Background The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. Read More

    Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
    J Clin Endocrinol Metab 2017 11;102(11):3924-3927
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
    Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Read More

    [Carney triad].
    Rozhl Chir 2017 ;96(6):267-272
    Carney triad is a synchronous or metachronous association of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma and extra-adrenal paraganglioma. The majority of patients have only one or two components of the triad, all three tumors being found in only about 2% of the patients at the time of the first diagnosis. The most common combination is gastric and pulmonary tumors. Read More

    Dielectric Sphere Clusters as a Model to Understand Infrared Spectroscopic Imaging Data Recorded from Complex Samples.
    Anal Chem 2017 Oct 27;89(20):10813-10818. Epub 2017 Sep 27.
    Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign , Urbana, Illinois 61801, United States.
    Understanding the infrared (IR) spectral response of materials as a function of their morphology is not only of fundamental importance but also of contemporary practical need in the analysis of biological and synthetic materials. While significant work has recently been reported in understanding the spectra of particles with well-defined geometries, we report here on samples that consist of collections of particles. First, we theoretically model the importance of multiple scattering effects and computationally predict the impact of local particles' environment on the recorded IR spectra. Read More

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