keyword

Carney's Syndrome | Page 2

keyword
https://read.qxmd.com/read/31054046/osteosarcoma-and-second-malignant-neoplasms-a-case-series
#21
REVIEW
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
https://read.qxmd.com/read/30897549/cushing-syndrome-uncovering-carney-complex-due-to-novel-prkar1a-mutation
#22
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
https://read.qxmd.com/read/30875328/primary-pigmented-nodular-adrenocortical-disease-ppnad-single-centre-experience
#23
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
https://read.qxmd.com/read/30868845/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
#24
REVIEW
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
https://read.qxmd.com/read/30863550/a-case-of-metastatic-adrenocortical-carcinoma
#25
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
https://read.qxmd.com/read/30760578/idh1-r132h-acts-as-a-tumor-suppressor-in-glioma-via-epigenetic-up-regulation-of-the-dna-damage-response
#26
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
https://read.qxmd.com/read/30713713/cell-therapy-for-ards-efficacy-of-endobronchial-versus-intravenous-administration-and-biodistribution-of-mapcs-in-a-large-animal-model
#27
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
https://read.qxmd.com/read/30699069/carney-complex-due-to-a-novel-pathogenic-variant-in-the-prkar1a-gene-a-case-report
#28
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
https://read.qxmd.com/read/30670014/a-case-of-autonomous-cortisol-secretion-in-a-patient-with-subclinical-cushing-s-syndrome-gnas-mutation-and-paradoxical-cortisol-response-to-dexamethasone
#29
Chihiro Sakaguchi, Kenji Ashida, Kenichi Kohashi, Kenji Ohe, Yoichi Fujii, Seiichi Yano, Yayoi Matsuda, Shohei Sakamoto, Ryuichi Sakamoto, Yoshinao Oda, Masatoshi Nomura, Yoshihiro Ogawa
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...
January 22, 2019: BMC Endocrine Disorders
https://read.qxmd.com/read/30580367/large-cell-calcifying-sertoli-cell-tumour-with-macrocalcification-in-partially-resected-testis-of-young-adult-patient
#30
M Potić Floranović, A Ristić Petrović, S Stojnev, M Potić, F Petrović, L Janković Veličkovic
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. LCCSCT is often associated with Carney complex or Peutz-Jaghers syndrome. We present the clinicopathological features of a young adult, with unilateral "stone-like" LCCSCT, without changes in hormonal status and no clinical characteristics of noted genetic disorders...
December 2018: Malaysian Journal of Pathology
https://read.qxmd.com/read/30555957/an-update-on-the-genetics-of-benign-pituitary-adenomas-in-children-and-adolescents
#31
Fady Hannah-Shmouni, Constantine A Stratakis
Pituitary adenomas in children and adolescents are rare tumors that often result from a tumor predisposition syndrome. Several inherited causes for pituitary adenomas have been identified in the last few years, including multiple endocrine neoplasia type 1 and 4, Carney's complex, Tuberous sclerosis, DICER1 syndrome, neurofibromatosis type 1, McCune Albright syndrome, familial isolated pituitary adenoma, and pituitary adenoma association due to defects in succinate dehydrogenase genes. Recently, our group discovered X-linked acrogigantism (X-LAG), a new pediatric disorder that is caused by an Xq26...
August 2018: Current Opinion in Endocrine and Metabolic Research
https://read.qxmd.com/read/30530903/germline-and-mosaic-mutations-causing-pituitary-tumours-genetic-and-molecular-aspects
#32
REVIEW
Sara Pepe, Márta Korbonits, Donato Iacovazzo
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...
February 1, 2019: Journal of Endocrinology
https://read.qxmd.com/read/30510946/carney-complex-two-case-reports-and-review-of-literature
#33
Shuang Li, Lian Duan, Feng-Dan Wang, Lin Lu, Zheng-Yu Jin
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. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.
November 26, 2018: World Journal of Clinical Cases
https://read.qxmd.com/read/30442879/carney-syndrome-presented-as-a-pathological-spine-fracture-in-a-35-year-old-male
#34
Andreas Kiriakopoulos, Dimitrios Linos
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...
November 16, 2018: American Journal of Case Reports
https://read.qxmd.com/read/30428497/carney-complex
#35
Crystal D C Kamilaris, Fabio Rueda Faucz, Antonis Voutetakis, Constantine A Stratakis
Carney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of PRKAR1A lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors...
February 2019: Experimental and Clinical Endocrinology & Diabetes
https://read.qxmd.com/read/30376640/a-population-based-twin-study-of-childhood-irritability-and-internalizing-syndromes
#36
Lance M Rappaport, Dever M Carney, Melissa A Brotman, Ellen Leibenluft, Daniel S Pine, Roxann Roberson-Nay, John M Hettema
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. Multivariate structural equation modeling decomposed the correlations between these syndromes into genetic and environmental components to examine shared and specific risk domains...
October 30, 2018: Journal of Clinical Child and Adolescent Psychology
https://read.qxmd.com/read/30301441/succinate-dehydrogenase-deficient-gastrointestinal-stromal-tumor-with-sdhc-germline-mutation-and-bilateral-renal-and-neck-cysts
#37
Kaitlin Stanley, Erika Friehling, Amy Davis, Sarangarajan Ranganathan
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. Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST. Negative immunohistochemistry for SDHB indicates dysfunction of the mitochondrial complex regardless of the subunit affected...
October 9, 2018: Pediatric and Developmental Pathology
https://read.qxmd.com/read/30283573/melanotic-schwannoma-of-spine-illustration-of-two-cases-with-diverse-clinical-presentation-and-outcome
#38
Raj Satheesh Chandran, Anil Kumar Patil, Rajmohan Bhanu Prabhakar, Krishna Balachandran
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. They occur as isolated tumors or as part of a syndrome named Carney complex. We try to describe the pathology, diagnosis, management, and prognosis of MSs in two different cases: one cervical intramedullary with no recurrence on 5-year follow-up and the other one extramedullary in lumbar region with early recurrence and aggressive course...
July 2018: Asian Journal of Neurosurgery
https://read.qxmd.com/read/30129786/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
#39
Ewa Cyranska-Chyrek, Dorota Filipowicz, Ewelina Szczepanek-Parulska, Marta Nowaczyk, Urszula Ambroziak, Sadegh Toutounchi, Łukasz Koperski, Tomasz Bednarczuk, Blazej Meczekalski, Marek Ruchała
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). All symptoms of Cushing syndrome including hirsutism and menstrual disturbances resolved after bilateral adrenalectomy...
August 21, 2018: Gynecological Endocrinology
https://read.qxmd.com/read/30093212/genetics-of-micronodular-adrenal-hyperplasia-and-carney-complex
#40
REVIEW
Amit Tirosh, Nuria Valdés, Constantine A Stratakis
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). CNC, associated with multiple endocrine and non-endocrine neoplasias, was first described in 1985 in 40 patients, 10 of whom were familial cases...
July 2018: La Presse Médicale
keyword
keyword
75654
2
3
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"