Kevin C Carney, Tanya Bronzell-Wynder, Karen Gronek
Lung transplantation is an established treatment of select patients with end-stage pulmonary disease. Lung transplantation should be considered for patients with end-stage pulmonary disease who have an expected 2-year survival of less than 50% without lung transplant and an expected 5-year survival of greater than 80% after transplant. This article reviews routine postsurgical intensive care unit management, along with management of complications such as acute kidney injury, atrial arrhythmias, deep vein thrombosis, primary graft dysfunction, hyperammonemia syndrome, and thrombocytopenia...
September 2019: Critical Care Nursing Clinics of North America
Geoffrey Joseph Changwe, Tao Zhang, Haizhou Zhang, Chengwei Zou
BACKGROUND: Cardiac myxoma, a common benign primary tumor of the heart can be categorized into syndromic (Carney Complex) and non-syndromic(isolated). Carney Complex associated myxomas can be found in any region and system (cardiac, cutaneous, osseous, genitalia), and may manifest at a tender age. On the contrary, non-syndromic cardiac myxomas are usually confined to the chambers, and symptoms often present from 5th decade of life. Aortic valve myxoma is a very unusual occurrence, and presentation in a teen is extremely rare...
July 23, 2019: Journal of Cardiothoracic Surgery
Kofi Effah, Stefan Seidl, Edith Gorges, Patrick Kafui Akakpo
Melanotic schwannoma (MS) is a rare nerve sheath tumor with fewer than 200 cases reported. MS has uncertain malignant potential and comprises 1% of all nerve sheath tumors with a predilection for the spinal nerve roots. An even rarer location for this tumor is the vagina. Up to 55% of MSs that contain psammoma bodies are associated with the Carney complex, an autosomal dominant syndrome. Criteria for malignancy in MS are still not well established and long term follow-up of patients is recommended. A 26-year-old woman presented with a bleeding vaginal tumor which was diagnosed as MS following excision...
2019: Case Reports in Obstetrics and Gynecology
Christina Tatsi, Fabio R Faucz, Emmanouil Blavakis, Benedito A Carneiro, Charalampos Lyssikatos, Elena Belyavskaya, Martha Quezado, Constantine A Stratakis
Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare testicular tumors, representing <1% of all testicular neoplasms. Almost 40% of patients with LCCSCTs will present in the context of an inherited tumor predisposition condition, such as Carney complex (CNC) or Peutz-Jeghers syndrome. We report the case of a 42-year-old man who had presented with a right testicular mass, and was diagnosed with metastatic LCCSCT. The patient underwent radical orchiectomy, achieving initial remission of his disease...
July 1, 2019: Journal of the Endocrine Society
Catherine Blebea, Dong Li, Leslie Castelo-Soccio, Emily Y Chu
The epithelioid blue nevus (EBN) is a variant of the blue nevus characterized by heavily pigmented epithelioid melanocytes and lightly or nonpigmented spindle cells. It may be associated with Carney complex, a multiple neoplasia syndrome. Congenital cases of EBN not associated with Carney complex are rarely reported. We herein describe an infant who presented with multiple blue-gray nodules and papules involving the head, trunk, and extremities at birth, the corresponding histopathologic findings, and genetic testing results...
July 8, 2019: Journal of Cutaneous Pathology
T Cuny, T T Mac, P Romanet, H Dufour, I Morange, F Albarel, A Lagarde, F Castinetti, T Graillon, M O North, A Barlier, T Brue
PURPOSE: Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by inactivating mutations in the PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) gene. Acromegaly is an infrequent manifestation of CNC, reportedly diagnosed in 10% of patients. METHODS: We here report the case of a patient who was concomitantly diagnosed with Carney complex, due to a new mutation in PRKAR1A ((NM_002734...
October 2019: Pituitary
Kinga Hińcza, Artur Kowalik, Aldona Kowalska
The thyroid is the most common site of endocrine cancer. One type of thyroid cancer, non-medullary thyroid cancer (NMTC), develops from follicular cells and represents approximately 90% of all thyroid cancers. Approximately 5%-15% of NMTC cases are thought to be of familial origin (FNMTC), which is defined as the occurrence of the disease in three or more first-degree relatives of the patient. It is often divided into two groups: Syndrome-associated and non-syndromic. The associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex and Werner syndrome...
June 26, 2019: Genes
Kyriakos Chatzopoulos, Karen J Fritchie, Marie-Christine Aubry, J Aiden Carney, Andrew L Folpe, Jennifer M Boland
AIMS: Pulmonary chondromas, which are rare cartilaginous neoplasms that often arise in the setting of Carney triad, are morphologically similar to pulmonary hamartomas, which are much more common. There is evidence that succinate dehydrogenase (SDH) deficiency drives neoplasia in patients with Carney triad, and SDHB immunohistochemistry can be used as a surrogate marker to detect SDH deficiency. The aim of this study was to investigate the utility of SDHB immunohistochemistry in distinguishing pulmonary chondromas from hamartomas...
December 2019: Histopathology
Victor M Cáceres, Jessica Goodell, Julie Shaffner, Alezandria Turner, Jasmine Jacobs-Wingo, Samir Koirala, Monica Molina, Robynn Leidig, Martín Celaya, Kara McGinnis Pilote, Tiana Garrett-Cherry, Jhetari Carney, Kym Johnson, W Randolph Daley
Objectives: The Centers for Disease Control and Prevention launched the Temporary Epidemiology Field Assignee (TEFA) Program to help state and local jurisdictions respond to the risk of Ebola virus importation during the 2014-2016 Ebola Outbreak in West Africa. We describe steps taken to launch the 2-year program, its outcomes and lessons learned. Methods: State and local health departments submitted proposals for a TEFA to strengthen local capacity in four key public health preparedness areas: 1) epidemiology and surveillance, 2) health systems preparedness, 3) health communications, and 4) incident management...
2019: SAGE Open Medicine
Arushi Khurana, Lin Mei, Anthony C Faber, Steven C Smith, Sosipatros A Boikos
Carney-Stratakis Syndrome (CSS) comprises of paragangliomas (PGLs) and gastrointestinal stromal tumors (GISTs). Several of its features overlap with Carney Triad (CT) - PGLs, GISTs, and pulmonary chondromas. CSS has autosomal dominant inheritance, incomplete penetrance, and greater relative frequency of PGL over GISTs. The PGLs in CSS are multicentric and GISTs are multifocal in all the patients, suggesting an inherited susceptibility and associating the two manifestations. In this review, we highlight the clinical, pathological, and molecular characteristics of CSS, along with its diagnostic and therapeutic implications...
June 7, 2019: Hormone and Metabolic Research
Ahmad Ibrahim, Shefali Chopra
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) is a subset of wild-type GIST that constitutes approximately 10% of gastric GISTs. SDH-mutated GISTs lack mutations in the proto-oncogene receptor tyrosine kinase (also known as KIT, c-KIT, or CD117) or platelet-derived growth factor receptor α (PDGFR-α). These tumors have female predilection, affect children and young adults, and have a spectrum of behavior from indolent to progressive. These tumors have characteristic morphologic features including multinodular architecture, multiple tumors, lymphovascular involvement, and occasional lymph node metastasis...
June 6, 2019: Archives of Pathology & Laboratory Medicine
Aydilek D. Cakır, Hande Turan, Tiraje Celkan, Nil Comunoğlu, Oya Ercan, Olcay Evliyaoglu
Carney complex (CNC) is multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine and non– endocrine tumors. Most of the cases have an inactivating mutation in PRKAR1A gene. Osteochondromyxoma (OMX) is an extremely rare myxomatous tumor of bone, affecting 1% of CNC patients. Large cell calcifying Sertoli cell tumor (LCCSCT) is a testicular tumor affecting more than 75 % of males with CNC. Here, we report a atypical case of CNC without typical pigmented skin lesions, presenting with a bone based tumor as the first manifestation...
May 23, 2019: Journal of Clinical Research in Pediatric Endocrinology
R L Geary, L R Corrigan, D N Carney, M J Higgins
BACKGROUND: The overall survival of patients with localised osteosarcoma has dramatically improved with the introduction of multidrug chemotherapeutic regimens into the treatment paradigm. However, despite optimal treatment, all-cause mortality remains higher among osteosarcoma survivors than in the general population. The development of second malignant neoplasms contributes to this higher mortality rate. CASE SERIES: We present three cases of patients definitively treated for osteosarcoma who subsequently developed a second malignant neoplasm...
May 3, 2019: Irish Journal of Medical Science
Catherine D Zhang, Pavel N Pichurin, Aleh Bobr, Melanie L Lyden, William F Young, Irina Bancos
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. Biochemical investigation was suggestive of corticotropin (ACTH)-independent Cushing syndrome. Unenhanced computed tomography scan of the abdomen did not reveal an obvious adrenal mass...
March 21, 2019: Endocrinology, Diabetes & Metabolism Case Reports
Saba Samad Memon, Kunal Thakkar, Virendra Patil, Swati Jadhav, Anurag R Lila, Gwendolyn Fernandes, Tushar R Bandgar, Nalini S Shah
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. Diagnosis was based on biochemistry and confirmed with histopathology and or genetic mutation...
April 24, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
Cong H Liu, Yan L Ge, Nai J Wu, Xiu P Jin
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...
March 1, 2019: Clinical Laboratory
N Kuthiah, C Er
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 et al . Genotyping of adrenocortical tumours: very frequent deletions of the MEN1 locus in 11q13 and of a 1-centimorgan region in 2p16. J Clin Endocrinol Metab 1999;84:730-5). Treatment options for adrenocortical carcinoma are limited...
February 2019: Oxford Medical Case Reports
Felipe J Núñez, Flor M Mendez, Padma Kadiyala, Mahmoud S Alghamri, Masha G Savelieff, Maria B Garcia-Fabiani, Santiago Haase, Carl Koschmann, Anda-Alexandra Calinescu, Neha Kamran, Meghna Saxena, Rohin Patel, Stephen Carney, Marissa Z Guo, Marta Edwards, Mats Ljungman, Tingting Qin, Maureen A Sartor, Rebecca Tagett, Sriram Venneti, Jacqueline Brosnan-Cashman, Alan Meeker, Vera Gorbunova, Lili Zhao, Daniel M Kremer, Li Zhang, Costas A Lyssiotis, Lindsey Jones, Cameron J Herting, James L Ross, Dolores Hambardzumyan, Shawn Hervey-Jumper, Maria E Figueroa, Pedro R Lowenstein, Maria G Castro
Patients with glioma whose tumors carry a mutation in isocitrate dehydrogenase 1 (IDH1R132H ) are younger at diagnosis and live longer. IDH1 mutations co-occur with other molecular lesions, such as 1p/19q codeletion, inactivating mutations in the tumor suppressor protein 53 (TP53 ) gene, and loss-of-function mutations in alpha thalassemia/mental retardation syndrome X-linked gene ( ATRX ). All adult low-grade gliomas (LGGs) harboring ATRX loss also express the IDH1R132H mutation. The current molecular classification of LGGs is based, partly, on the distribution of these mutations...
February 13, 2019: Science Translational Medicine
Nayra Cardenes, Paola Aranda-Valderrama, Jonathan P Carney, Jacobo Sellares Torres, Diana Alvarez, Ergin Kocydirim, Julie A Wolfram Smith, Antony E Ting, Luigi Lagazzi, Zheming Yu, Scott Mason, Ernesto Santos, Brian J Lopresti, Mauricio Rojas
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. Methods: MAPC were labelled with [18 F] fluoro-29-deoxy-D-glucose and delivered by endobronchial (EB) or intravenous route 1 hour after lipopolysaccharide infusion in sheep mechanically ventilated...
2019: BMJ Open Respiratory Research
Sofia H Ferreira, Maria M Costa, Elisabete Rios, Rita Santos Silva, Carla Costa, Cíntia Castro-Correia, Manuel Fontoura
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. Case presentation We describe the case of a 16-year-old otherwise healthy female referred to our endocrinology department for progressive weight gain. During investigation, an adrenocorticotropic hormone (ACTH) independent CS was identified and the possibility of an adrenocortical tumor was suggested...
February 25, 2019: Journal of Pediatric Endocrinology & Metabolism: JPEM
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