keyword
MENU ▼
Read by QxMD icon Read
search

Albrights syndrome

keyword
https://www.readbyqxmd.com/read/27897024/-peripheral-precocious-puberty
#1
J Zvonařová Skalická, R Pilka
OBJECTIVE: To summarize literature data on peripheral precocious puberty. DESIGN: A literature review. SETTING: Středomoravská nemocniční a.s., hospital Šternberk, Department of Obstetrics and Gynaecology, University Hospital, Medical Faculty, Palacky University, Olomouc. METHODS AND RESULTS: We searched in PubMed using the key words stated below according to date and published since 1980.Peripheral precocious puberty occurs in girls with the frequency 1:400-1000...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27875418/nonclassic-features-of-pseudohypoparathyroidism-type-1a
#2
Ashley H Shoemaker, Harald Jüppner
PURPOSE OF REVIEW: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype. RECENT FINDINGS: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia...
November 21, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27857528/mccune-albright-syndrome-association-of-fibrous-dysplasia-caf%C3%A3-au-lait-skin-spots-and-hyperthyroidism-case-report
#3
Iulian Raus, Roxana Elena Coroiu
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27813477/-genes-in-the-camp-pathway-causing-skeletal-dysplasia-with-or-without-hormonal-resistance
#4
Caroline Silve
Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a...
2016: Biologie Aujourd'hui
https://www.readbyqxmd.com/read/27803541/mccune-albright-syndrome-from-gynaecological-perspective
#5
A Mishra, R Purvar, S Malik, K Agarwal, R Gera, S Sridhar
No abstract text is available yet for this article.
October 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#6
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27777905/etiology-and-therapeutic-outcomes-of-children-with-gonadotropin-independent-precocious-puberty
#7
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27756606/screening-for-genetic-causes-of-growth-hormone-hypersecretion
#8
Liliya Rostomyan, Albert Beckers
Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage...
October 12, 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27742789/novel-genetic-causes-of-pituitary-adenomas
#9
EDITORIAL
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27740949/polyostotic-fibrous-dysplasia-in-mccune-albright-syndrome-demonstrated-on-68ga-dotatate-pet-ct
#10
Grace Hennessy, Deepa Shetty, Han Loh, Chuong Bui, Ken Le, Robert Mansberg
A 33-year-old woman with McCune-Albright syndrome was referred for a Ga-DOTATATE PET/CT study for evaluation and staging of a biopsy-proven pancreatic tail neuroendocrine tumor. The scan demonstrated intense focal octreopeptide uptake corresponding to the known neuroendocrine tumor at the pancreatic tail/splenic hilum. There was no evidence of octreopeptide-avid metastases. Diffuse octreopeptide uptake was demonstrated in multiple bones involving the right side of the skeleton. The concurrent CT demonstrated corresponding expansile lucent changes consistent with the known fibrous dysplasia...
December 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27712638/calciphylaxis-a-disease-of-pannicular-thrombosis
#11
Rokea A El-Azhary, Michelle T Patzelt, Robert D McBane, Amy L Weaver, Robert C Albright, Alina D Bridges, Paul L Claus, Mark D P Davis, John J Dillon, Ziad M El-Zoghby, LaTonya J Hickson, Rajiv Kumar, Kathleen A M McCarthy-Fruin, Marian T McEvoy, Mark R Pittelkow, David A Wetter, Amy W Williams, James T McCarthy
OBJECTIVE: To identify coagulation risk factors in patients with calciphylaxis and the relationship between anticoagulation use and overall survival. PATIENTS AND METHODS: Study subjects were 101 patients with calciphylaxis seen at Mayo Clinic from 1999 to September 2014. Data including thrombophilia profiles were extracted from the medical records of each patient. Survival status was determined using patient registration data and the Social Security Death Index...
October 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27702404/-fibrous-dysplasia-a-heterogeneous-disease
#12
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27649526/outcome-of-long-term-bisphosphonate-therapy-in-mccune-albright-syndrome-and-polyostotic-fibrous-dysplasia
#13
Bas Cj Majoor, Natasha M Appelman-Dijkstra, Martha Fiocco, Michiel Aj van de Sande, Pd Sander Dijkstra, Neveen At Hamdy
McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies, and café-au-lait patches. FD patients have been shown to respond favorably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. We evaluated the biochemical (bone turnover markers [BTMs]) and clinical (pain reduction) outcome of bisphosphonate therapy in 11 patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range, 2 to 25 years)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27592093/neonatal-mccune-albright-syndrome-with-giant-cell-hepatitis
#14
Yasuhiro Ikawa, Yusuke Yachi, Natsumi Inoue, Akiko Kato, Michiko Okajima, Akihiro Yachie
No abstract text is available yet for this article.
August 31, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27571787/skin-manifestations-of-growth-hormone-induced-diseases
#15
Christina Kanaka-Gantenbein, Christina Kogia, Mohamed Badawy Abdel-Naser, George P Chrousos
The human skin is a well-organized organ bearing different types of cells in a well-structured interference to each other including epidermal and follicular keratinocytes, sebocytes, melanocytes, dermal papilla cells and fibroblasts, endothelial cells, sweat gland cells as well as nerves. Several hormones act on different cell types of the skin, while it is also considered an endocrine organ secreting hormones that act at several sites of the organism. GH receptors are found in almost all cell types forming the skin, while IGF-1 receptors' expression is restricted to the epidermal keratinocytes...
August 30, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27562402/long-term-outcomes-of-letrozole-treatment-for-precocious-puberty-in-girls-with-mccune-albright-syndrome
#16
Andrea Estrada, Alison M Boyce, Beth A Brillante, Lori C Guthrie, Rachel I Gafni, Michael T Collins
OBJECTIVE: McCune-Albright syndrome (MAS) is a rare disorder with a broad spectrum including precocious puberty (PP) due to recurrent estrogen-secreting ovarian cysts. This study evaluates the long-term safety and efficacy of letrozole treatment in large cohort of girls with MAS-associated PP. DESIGN: Retrospective cohort analysis. METHODS: Clinical data, including history and physical examination, bone age, and pelvic ultrasounds, were reviewed on 28 letrozole-treated girls...
November 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27535175/growth-hormone-and-risk-for-cardiac-tumors-in-carney-complex
#17
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1)...
September 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27526430/-rarer-causes-of-thyrotoxicosis
#18
REVIEW
Robert Krysiak, Karolina Kowalcze, Bogusław Okopień
Thyrotoxicosis is a pathological syndrome in which tissue is exposed to excessive amounts of circulating thyroid hormones. Including its subclinical form, it is considered as one of the most frequent endocrine disorders in the general population. If not detected in a timely fashion, thyrotoxicosis can have serious health consequences. The most common forms of thyrotoxicosis include diffuse toxic goiter (Graves' disease), toxic multinodular goiter (Plummer's disease), and toxic adenoma (Goetsch's disease). The significant progress in the fields of hormonal assessment, imaging procedures and molecular biology made in recent years has brought about great improvement in the identification, differentiation and treatment of many other disorders associated with thyrotoxicosis...
2016: Przegla̧d Lekarski
https://www.readbyqxmd.com/read/27512387/the-role-of-gsp-mutations-on-the-development-of-adrenocortical-tumors-and-adrenal-hyperplasia
#19
REVIEW
Maria Candida Barisson Villares Fragoso, Ingrid Quevedo Wanichi, Isadora Pontes Cavalcante, Beatriz Marinho de Paula Mariani
Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune-Albright syndrome (MAS) and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer, ovarian and testicular Leydig cell tumors, and primary macronodular adrenocortical hyperplasia (PMAH) (1-3). The involvement of gsp mutations in adrenal tumors was first described by Lyons et al. Since then, several studies have detected the presence of gsp mutations in adrenal tumors, but none of them could explain its presence along or the mechanism that leads to tumor formation and hormone hypersecretion...
2016: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/27506760/clinical-and-endocrine-characteristics-and-genetic-analysis-of-korean-children-with-mccune-albright-syndrome-a-retrospective-cohort-study
#20
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Chang-Seok Ki, Ji-Eun Lee, Sung Yoon Cho, Dong-Kyu Jin
BACKGROUND: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. METHODS: Patients' clinical data-including peripheral PP, FD, and other endocrine problems-were reviewed retrospectively...
2016: Orphanet Journal of Rare Diseases
keyword
keyword
18922
1
2
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"