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Albrights syndrome

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https://www.readbyqxmd.com/read/28919319/a-population-based-description-of-familial-clustering-of-hirschsprung-s-disease
#1
Craig C Teerlink, Ryan Bernhisel, Lisa A Cannon-Albright, Michael D Rollins
BACKGROUND: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy. METHODS: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data...
September 1, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28885400/internal-validation-of-the-sepsis-in-obstetrics-score-to-identify-risk-of-morbidity-from-sepsis-in-pregnancy
#2
Catherine M Albright, Phinnara Has, Dwight J Rouse, Brenna L Hughes
OBJECTIVE: To prospectively validate the Sepsis in Obstetrics Score, a pregnancy-specific sepsis scoring system, to identify risk for intensive care unit (ICU) admission for sepsis in pregnancy. METHODS: This is a prospective validation study of the Sepsis in Obstetrics Score. The primary outcome was admission to the ICU for sepsis. Secondary outcomes included admission to a telemetry unit and time to administration of antibiotic therapy. We evaluated test characteristics of a predetermined score of 6 or greater...
September 5, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28856726/increased-risk-of-breast-cancer-at-a-young-age-in-women-with-fibrous-dysplasia
#3
Bas C J Majoor, Alison M Boyce, Judith V M G Bovée, Vincent T H B M Smit, Michael T Collins, Anne-Marie Cleton-Jansen, Olaf M Dekkers, Neveen A T Hamdy, Sander P D Dijkstra, Natasha M Appelman-Dijkstra
Background Fibrous dysplasia is a rare bone disorder caused by mutations of the GNAS-gene, which are also identified in malignancies. We explored the potential relationship between breast cancer and fibrous dysplasia in two fibrous dysplasia cohorts from the Netherlands and the USA Patients and Methods Data on fibrous dysplasia and breast cancer diagnosis were retrieved from hospital-records of 134 (Netherlands) and 121 (USA) female patients. Results were validated with breast cancer data of 645 female fibrous dysplasia patients from the Dutch Pathology Registry (PALGA)...
August 30, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28845837/mazabraud-syndrome-associated-with-mccune-albright-syndrome-a-case-report-and-review-of-the-literature
#4
Alessio Biazzo, Andrea Di Bernardo, Antonina Parafioriti, Norberto Confalonieri
Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event...
August 23, 2017: Acta Bio-medica: Atenei Parmensis
https://www.readbyqxmd.com/read/28772302/cancer-risk-in-families-fulfilling-the-amsterdam-criteria-for-lynch-syndrome
#5
N Jewel Samadder, Ken Robert Smith, Jathine Wong, Alun Thomas, Heidi Hanson, Kenneth Boucher, Cathryn Kopituch, Lisa A Cannon-Albright, Randall W Burt, Karen Curtin
Importance: The data describing cancer risks associated with Lynch syndrome are variable. Objectives: To quantify the prevalence of families that fulfill the Amsterdam I or II criteria for Lynch syndrome in the Utah population and investigate the risk of colonic and extracolonic cancers in family members and their relatives. Design, Setting, and Participants: In a population-based study, 202 families with Amsterdam I and II criteria-positive pedigrees in the Utah Population Database were identified...
August 3, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28699175/long-term-health-outcomes-of-adults-with-mccune-albright-syndrome
#6
Sze Choong Wong, Margaret Zacharin
CONTEXT: McCune-Albright syndrome (MAS) is associated with numerous health problems. Comprehensive long-term health problems of adults with MAS are less well defined in the literature. OBJECTIVE: Our objective is to report comprehensive health outcomes of adults with MAS (>18 years). DESIGN: Retrospective case note review of 16 adults with MAS managed by one clinician. Results expressed as median (range). RESULTS: The study included 16 adults (seven males) with MAS...
July 12, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28690993/2q37-deletion-syndrome-confirmed-by-high-resolution-cytogenetic-analysis
#7
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patient with 2q37 deletion presenting with dilated cardiomyopathy (DCMP). Congenital heart malformations have been noted in up to 20% of patients with 2q37 deletions. However, DCMP has not been reported in 2q37 deletion patients previously...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28676838/effect-of-intranasal-calcitonin-in-a-patient-with-mccune-albright-syndrome-fibrous-dysplasia-and-refractory-bone-pain
#8
Tayane Muniz Fighera, Poli Mara Spritzer
McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28660402/bisphosphonate-induced-zebra-lines-in-fibrous-dysplasia-of-bone-histo-radiographic-correlation-in-a-case-of-mccune-albright-syndrome
#9
Alessandro Corsi, Ernesto Ippolito, Pamela G Robey, Mara Riminucci, Alan Boyde
Bisphosphonates (BPs) are currently used in the treatment of diverse bone diseases including fibrous dysplasia of bone (FD). In pediatric patients, a radiographic consequence of cyclical administration of BPs is the development of apo-, epi-, and meta-physeal sclerotic bands, otherwise known as zebra lines, which result from the temporary inhibition of osteoclastic activity at the time of drug treatment. We report here on a child with McCune-Albright syndrome (FD in addition to hyperfunctioning endocrinopathies and skin hyperpigmentation) treated with cyclical intravenous infusions of pamidronate in which conventional radiography, contact microradiography, histology, and backscattered electron image analysis demonstrated that zebra lines formed only where bone was normal, were arrested at the boundary between FD-unaffected and FD-affected bone where bone is sclerotic, and were absent within the undermineralized FD bone...
June 28, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28638307/rectal-metyrapone-for-treatment-of-hypercortisolism-in-an-infant-with-mccune-albright-syndrome
#10
Kate Verbeeten, Stasia Hadjiyannakis, Melody Cameron, Jaime McDonald
Infantile Cushing syndrome is an infrequent yet potentially fatal manifestation of McCune-Albright syndrome, for which there are few safe treatments available. Ketoconazole is limited by potential hepatotoxicity in this population. Metyrapone may be an effective treatment, but it may not be tolerated when given orally. An infant with McCune-Albright syndrome presented with severe Cushing syndrome. Oral metyrapone resulted in feeding refusal, and ketoconazole caused an increase in liver enzymes; however, she was successfully treated with metyrapone given rectally...
May 2017: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/28616214/high-dose-hydroxocobalamin-for-vasoplegic-syndrome-causing-false-blood-leak-alarm
#11
Wisit Cheungpasitporn, John Hui, Kianoush B Kashani, Erica D Wittwer, Robert C Albright, John J Dillon
Blood leak alarms are important safety features in a hemodialysis machine to protect patients from loss of blood through a rupture in the dialyzer membrane (true alarms). A false blood leak alarm can be triggered by air bubbles or detector malfunction (such as deposits of grease or scale). Hydroxocobalamin is an injectable form of vitamin B12 approved by the US Food and Drug Administration for the treatment of confirmed or suspected cyanide toxicity. Due to observations of an increase in arterial pressure after high-dose hydroxocobalamin infusion for the treatment of acute cyanide poisoning, it has recently been reported as an off-label rescue treatment for post-cardiopulmonary bypass vasoplegic syndrome...
June 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28612379/mccune-albright-syndrome-associated-bone-marrow-failure-and-extramedullary-haematopoeisis-secondary-to-fibrous-dysplasia
#12
Ali Jassem Mahdi, Phillip Connor, Indu Thakur
No abstract text is available yet for this article.
July 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28567291/pachydermoperiostosis-a-rare-mimicker-of-acromegaly
#13
Noor Rafhati Adyani Abdullah, Wong Lok Chin Jason, Azraai Bahari Nasruddin
Pachydermoperiostosis is a very rare osteoarthrodermopathic disorder whose clinical and radiographic presentations may mimic those of acromegaly. In the evaluation of patients with acromegaloid appearances, pachydermoperiostosis should be considered as a differential diagnosis. In this article, we report a 17-year-old boy who presented with 2-year history of acral enlargement and facial appearance changes associated with joint pain and excessive sweating. He had been investigated extensively for acromegaly, and the final diagnosis was pachydermoperiostosis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28528327/three-quarters-adrenalectomy-for-infantile-onset-cushing-syndrome-due-to-bilateral-adrenal-hyperplasia-in-mccune-albright-syndrome
#14
Tomoyo Itonaga, Hironori Goto, Manabu Toujigamori, Yasuharu Ohno, Seigo Korematsu, Tatsuro Izumi, Satoshi Narumi, Tomonobu Hasegawa, Kenji Ihara
BACKGROUND: Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS...
May 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28483283/-the-mouth-of-patients-with-hypo-and-pseudohypoparathyroidism
#15
François Wémeau, Jean-Louis Wémeau
Chronic calcipenia related to hypo- and pseudohypoparathyroidism favors trophic complications, especially expressed on the buccal cavity. Correlated with early onset of the disease and imperfect correction of the metabolic disorders, retardation to appearance and implantation of teeth are observed. The buccal signs often are the most immediately visible expression of the disease. They are painful and disabling. Other acute expressions reflect the neuromuscular hyperexcitability related to tetany. Finally, some etiologies determine specific damage, as in Di George's, HDR syndromes or in Albright's osteodystrophia...
May 5, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28439311/treatment-of-shepherd-s-crook-deformity-in-patients-with-polyostotic-fibrous-dysplasia-using-a-new-type-of-custom-made-retrograde-intramedullary-nail-a-technical-note
#16
F Hefti, L Donnan, A H Krieg
AIMS: The severe form of coxa vara, the 'shepherd's crook deformity', is always a consequence of a locally extensive form of polyostotic fibrous dysplasia (or McCune-Albright syndrome). Treatment of this deformity is a challenge. The soft bone does not tolerate any implant that depends on the stability of the cortical bone (like plates or external fixators). Intramedullary nails are the most appropriate implants for stabilisation, but if they are inserted from the greater trochanter, they cannot correct the varus deformity enough...
2017: Journal of Children's Orthopaedics
https://www.readbyqxmd.com/read/28385908/isolated-brachydactyly-type-e-and-idiopathic-pancreatitis-in-a-patient-presenting-to-a-lipid-disorders-clinic
#17
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance...
April 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28334704/combining-real-time-cold-and-mama-pcr-taqman-techniques-to-detect-and-quantify-r201-gnas-mutations-in-the-mccune-albright-syndrome%C3%A2
#18
Luisa de Sanctis, Ilaria Galliano, Paola Montanari, Patrizia Matarazzo, Daniele Tessaris, Massimiliano Bergallo
BACKGROUND/AIM: The McCune-Albright syndrome (MAS) is a potentially severe disorder hallmarked by fibrous bone dysplasia, café-au-lait skin spots, and endocrine hyperfunction. It is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicism. Our aim was to improve the mutation detection rate and to quantify the presence of R201 GNAS mutations in different DNA samples from MAS patients. METHODS: Real-time COLD- and MAMA-PCR TaqMan techniques were combined to search for R201 mutations in the DNA of blood or affected tissues from 16 previously molecularly characterized MAS patients, from a further 84 subjects with MAS signs who were R201 negative at RFLP analysis, and from 36 controls...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28302454/craniofacial-fibrous-dysplasia-a-10-case-series
#19
A Couturier, O Aumaître, L Gilain, B Jean, T Mom, M André
OBJECTIVES: Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. METHODS: We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015...
March 14, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28243882/improving-patient-outcomes-in-fibrous-dysplasia-mccune-albright-syndrome-an-international-multidisciplinary-workshop-to-inform-an-international-partnership
#20
A M Boyce, A Turner, L Watts, L Forestier-Zhang, A Underhill, R Pinedo-Villanueva, F Monsell, D Tessaris, C Burren, L Masi, N Hamdy, M L Brandi, R Chapurlat, M T Collins, Muhammad Kassim Javaid
To develop consensus on improving the management of patients, we convened an international workshop involving patients, clinicians, and researchers. Key findings included the diagnostic delay and variability in subsequent management with agreement to develop an international natural history study. We now invite other stakeholders to join the partnership. PURPOSE: The aim of this study was develop a consensus on how to improve the management of patients with fibrous dysplasia and prioritize areas for research METHODS: An international workshop was held over 3 days involving patients, clinicians, and researchers...
December 2017: Archives of Osteoporosis
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