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Albrights syndrome

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https://www.readbyqxmd.com/read/29744853/fibrous-dysplasia-clinicopathologic-presentation-of-36-cases
#1
Mine Özşen, Ülviye Yalçinkaya, Muhammed Sadık Bilgen, Zeynep Yazici
OBJECTIVE: Fibrous dysplasia is a slowly progressing bone lesion resulting from displacement of the normal medullary bone with abnormal fibroosseous tissue. The aim of this study was to assess the similarities and differences of our cases in relation to published reports. MATERIAL AND METHOD: In this study, the archives of the Uludag University Medical Faculty Department of Pathology were screened for fibrous dysplasia cases between 2004 and 2016. RESULTS: Within the mentioned period, there were 36 cases diagnosed as fibrous dysplasia...
May 10, 2018: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/29697443/injury-characteristics-and-von-willebrand-factor-for-the-prediction-of-acute-respiratory-distress-syndrome-in-patients-with-burn-injury-development-and-internal-validation
#2
Majid Afshar, Ellen L Burnham, Cara Joyce, Robin Gagnon, Robert Dunn, Joslyn M Albright, Luis Ramirez, John E Repine, Giora Netzer, Elizabeth J Kovacs
OBJECTIVE: To derive and validate a prediction model for the development of ARDS in burn-injured patients. SUMMARY BACKGROUND DATA: Burn injury carries the highest incidence of acute respiratory distress syndrome (ARDS) among all predisposing conditions, but few studies exist on risk factors in these patients. Studies employing biomarkers and clinical risk factors for predicting ARDS mortality have recently been examined but none exist for onset of ARDS nor in patients with burn injury...
April 24, 2018: Annals of Surgery
https://www.readbyqxmd.com/read/29672904/growth-hormone-gh-insulin-like-growth-factor-1-igf-1-axis-hyperactivity-on-bone-fibrous-dysplasia-in-mccune-albright-syndrome
#3
Daniele Tessaris, Alison M Boyce, Margaret Zacharin, Patrizia Matarazzo, Roberto Lala, Luisa de Sanctis, Michael T Collins
CONTEXT: In fibrous dysplasia (BFD) normal bone and bone marrow are replaced by fibro-osseous tissue, leading to fracture, deformity and pain. BFD may be isolated, or in association with cutaneous hyperpigmentation and/or hyperfunctioning endocrinopathies, termed McCune-Albright syndrome (MAS). GH hypersecretion has been described in 10-20% of MAS-BFD patients. Aim of the study is to determine the impact of GH-insulin like growth factor 1 (IGF1) axis hyperactivity on MAS-BFD morbidities and the efficacy of GH excess therapy...
April 19, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29669167/scoliosis-in-fibrous-dysplasia-mccune-albright-syndrome-factors-associated-with-curve-progression-and-effects-of-bisphosphonates
#4
Jason A Berglund, Sri Harsha Tella, Kaitlyn F Tuthill, Lauren Kim, Lori C Guthrie, Scott M Paul, Robert Stanton, Michael T Collins, Alison M Boyce
BACKGROUND: Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS), however risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the risk of progressive scoliosis. METHODS: Clinical data from the NIH cohort study was reviewed. Cobb angles were measured, and variables associated with scoliosis progression were identified. RESULTS: Of 138 subjects with available radiographs, 84 (61%) had scoliosis, including 55 (65%) classified as mild (Cobb angle >10 to ≤30°), 11 (13%) as moderate (>30 to ≤45°), and 18 (22%) as severe (>45°)...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#5
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29544460/the-curious-case-of-g%C3%AE-s-gain-of-function-in-neoplasia
#6
Giulio Innamorati, Thomas M Wilkie, Havish S Kantheti, Maria Teresa Valenti, Luca Dalle Carbonare, Luca Giacomello, Marco Parenti, Davide Melisi, Claudio Bassi
BACKGROUND: Mutations activating the α subunit of heterotrimeric Gs protein are associated with a number of highly specific pathological molecular phenotypes. One of the best characterized is the McCune Albright syndrome. The disease presents with an increased incidence of neoplasias in specific tissues. MAIN BODY: A similar repertoire of neoplasms can develop whether mutations occur spontaneously in somatic tissues during fetal development or after birth. Glands are the most "permissive" tissues, recently found to include the entire gastrointestinal tract...
March 15, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29499646/what-to-consider-when-pseudohypoparathyroidism-is-ruled-out-ippsd-and-differential-diagnosis
#7
Arrate Pereda, Intza Garin, Guiomar Perez de Nanclares
BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations...
March 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29488004/-the-activating-gnas-mutation-a-survey-of-fibrous-dysplasia-its-associated-syndromes-and-other-skeletal-and-extraskeletal-lesions
#8
REVIEW
H Ostertag, S Glombitza
Fibrous dysplasia of bone is a connatal but not hereditary disease with monostotic or polyostotic manifestations and may be associated either with the extraskeletal disease McCune-Albright syndrome or with myxoma of the skeletal muscle, termed Mazabraud syndrome.The confirmation of recurrent chromosomal aberrations may lead to the conclusion that fibrous dysplasia is a neoplasia rather than a dysplastic skeletal disease.The primary cause of all forms of the described diseases is the activating GNAS mutation, which is detectable in almost all lesions...
March 2018: Der Pathologe
https://www.readbyqxmd.com/read/29471062/constitutive-stimulatory-g-protein-activity-in-limb-mesenchyme-impairs-bone-growth
#9
Anara Karaca, Vijayram Reddy Malladi, Yan Zhu, Olta Tafaj, Elena Paltrinieri, Joy Y Wu, Qing He, Murat Bastepe
GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth...
May 2018: Bone
https://www.readbyqxmd.com/read/29462129/family-history-of-cancer-and-the-risk-of-childhood-solid-tumours-a-norwegian-nationwide-register-based-cohort-study
#10
Ruby Del Risco Kollerud, Karl Gerhard Blaasaas, Bjørgulf Claussen, Per Nafstad, Lisa A Cannon-Albright, Ellen Ruud, Finn Wesenberg, Øyvind Næss
This corrects the article DOI: 10.1038/bjc.2017.85.
March 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29406000/neonatal-cushing-syndrome-a-rare-but-potentially-devastating-disease
#11
REVIEW
Christina Tatsi, Constantine A Stratakis
Neonatal Cushing syndrome (CS) is most commonly caused by exogenous administration of glucocorticoids and rarely by endogenous hypercortisolemia. CS owing to adrenal lesions is the most common cause of endogenous CS in neonates and infants, and adrenocortical tumors (ACTs) represent most cases. Many ACTs develop in the context of a TP53 gene mutation, which causes Li-Fraumeni syndrome. More rarely, neonatal CS presents as part of other syndromes such as McCune-Albright syndrome or Beckwith-Wiedemann syndrome...
March 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29395486/the-value-of-genetic-testing-in-polycystic-kidney-diseases-illustrated-by-a-family-with-pkd2-and-col4a1-mutations
#12
Emilie Cornec-Le Gall, Fouad T Chebib, Charles D Madsen, Sarah R Senum, Christina M Heyer, Brendan C Lanpher, Marc C Patterson, Robert C Albright, Alan S Yu, Vicente E Torres, Peter C Harris
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Using targeted next-generation sequencing of 65 candidate genes in a patient with an ADPKD-like phenotype who lacked the familial PKD2 mutation, we identified a COL4A1 mutation (p...
January 27, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29354163/secondary-aneurysmal-bone-cyst-in-mccune-albright-syndrome
#13
Symeon Tournis, Alexia Balanika, Panayiotis D Megaloikonomos, Andreas F Mavrogenis
Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune-Albright syndrome are exceptional. We present a 28-year-old female with McCune-Albright syndrome...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29201948/persistent-diabetes-mellitus-postadrenalectomy-in-neonatal-mccune-albright-syndrome
#14
Mustafa Tosur, Michael T Collins, Stephen W Ponder, Constantine A Stratakis, Lefkothea P Karaviti, George S Jeha
No abstract text is available yet for this article.
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/29198617/mccune-albright-syndrome-diagnosis-and-clinical-course-in-eleven-patients
#15
Jia-Woei Hou
No abstract text is available yet for this article.
November 13, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29192304/association-of-hearing-loss-and-otologic-outcomes-with-fibrous-dysplasia
#16
Alison M Boyce, Carmen Brewer, Timothy R DeKlotz, Christopher K Zalewski, Kelly A King, Michael T Collins, H Jeffrey Kim
Importance: Fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) are rare bone and endocrine disorders in which expansile fibro-osseous lesions result in deformity, pain, and functional impairment. The effect of FD on hearing and otologic function has not been established. Objectives: To characterize audiologic and otologic manifestations in a large cohort of individuals with FD/MAS and to investigate potential mechanisms of hearing loss. Design, Setting, and Participants: In this natural history study, individuals with craniofacial FD seen at a clinical research center underwent clinical, biochemical, computed tomographic, audiologic, and otolaryngologic evaluations...
February 1, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29104223/detection-of-rare-somatic-gnas-mutation-in-mccune-albright-syndrome-using-a-novel-peptide-nucleic-acid-probe-in-a-single-tube
#17
Fu-Sung Lo, Tai-Long Chen, Chiuan-Chian Chiou
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS/FD...
November 1, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/29071359/bone-marrow-failure-and-extramedullary-hematopoiesis-in-mccune-albright-syndrome
#18
C Robinson, A M Boyce, A Estrada, D E Kleiner, R Mathew, R Stanton, H Frangoul, M T Collins
In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism...
January 2018: Osteoporosis International
https://www.readbyqxmd.com/read/28966816/natural-history-of-cranial-fibrous-dysplasia-revealed-during-long-term-follow-up-case-report-and-literature-review
#19
David L Penn, Richard J Tartarini, Carolyn H Glass, Umberto De Girolami, Amir A Zamani, Ian F Dunn
BACKGROUND: Fibrous dysplasia (FD) is a rare developmental disease characterized by the replacement of bone marrow with proliferating fibro-osseous tissue. There exist three forms of FD-monostotic, polyostotic, and that associated with McCune-Albright syndrome. The disease can present in different locations and with a variety of symptoms. One of the more common locations of FD occurrence is the craniofacial region. Treatment of asymptomatic FD often involves conservative management with serial imaging...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28963390/acromegaly-with-hypophosphataemia-mccune-albright-syndrome
#20
Rimesh Pal, Pinaki Dutta, Kanchan Kumar Mukherjee, Anil Bhansali
A 38-year-old man presented with excessive height gain and progressive enlargement of the extremities since childhood. This was compounded by lower limb deformities over the past 5 years. On examination, his height was 196 cm, he had macroglossia, acral enlargement, seborrhoea, hyperhidrosis-suggesting acrogigantism. He had facial asymmetry, wind-swept deformity of lower limbs and a café-au-lait macule over his trunk. Investigations revealed normal-sized pituitary gland with dysplastic cranial bones. Isotope bone scintigraphy was suggestive of polyostotic fibrous dysplasia...
September 28, 2017: BMJ Case Reports
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