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https://www.readbyqxmd.com/read/29690976/berardinelli-seip-congenital-generalised-lipodystrophy
#1
Huma Arshad Cheema, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, Mohammad Nadeem Anjum
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29684108/pituitary-diseases-and-bone
#2
Gherardo Mazziotti, Stefano Frara, Andrea Giustina
Neuroendocrinology of bone is a new area of research based on the evidence that pituitary hormones may directly modulate bone remodeling and metabolism. Skeletal fragility associated with high risk of fractures is a common complication of several pituitary diseases such as hypopituitarism, Cushing disease, acromegaly and hyperprolactinemia. As in other forms of secondary osteoporosis, pituitary diseases generally affect bone quality more than bone quantity and fractures may occur even in the presence of normal or low-normal bone mineral density as measured by dual-energy X-ray absorptiometry, making difficult the prediction of fractures in these clinical settings...
April 19, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29681935/higher-income-and-integration-into-the-workforce-are-the-main-factors-associated-with-quality-of-life-in-acromegalic-patients-in-northeastern-brazil
#3
Adriana Maria GuimarãesSá, Pedro Antônio Muniz Ferreira, Marinilde Teles Souza, Gilvan Cortês Nascimento, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho Rocha, Manuel Dos Santos Faria, Adalgisa de Souza Paiva Ferreira
Objective: To identify the factors associated with quality of life in patients with acromegaly with follow-up at the referral service in neuroendocrinology of the state of Maranhão, northeast Brazil. Methods: The Acromegaly Quality of Life Questionnaire (Acro-QoL) was used. Factors independently associated with quality of life were identified using multivariate linear regression, with p values < 0.05 considered significant. Results: The multivariate linear regression analysis indicated a positive association between being integrated into the job market and quality of life scores in the overall domain ( β = 0...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29680871/cystic-tumors-of-the-pituitary-infundibulum-seminal-autopsy-specimens-1899-to-1904-that-allowed-clinical-pathological-craniopharyngioma-characterization
#4
José M Pascual, Ruth Prieto, Maria Rosdolsky, Sewan Strauss, Inés Castro-Dufourny, Verena Hofecker, Eduard Winter, Rodrigo Carrasco, Walter Ulrich
A heterogeneous group of epithelial cystic tumors developed at the infundibulum and the third ventricle disconcerted pathologists at the dawn of the twentieth century. Very little was known at that time about the physiological role played by the pituitary gland, and there was almost complete ignorance regarding the function of the hypothalamus. Acromegaly, or enlargement of acral body parts, described in 1886 by Pierre Marie, was the only disease linked to primary hypertrophies of the pituitary gland, known as "pituitary strumas"...
April 21, 2018: Pituitary
https://www.readbyqxmd.com/read/29678528/endocrine-remission-after-pituitary-stereotactic-radiosurgery-differences-in-rates-of-response-for-matched-cohorts-of-cushing-disease-and-acromegaly-patients
#5
Daniel M Trifiletti, Zhiyuan Xu, Sunil W Dutta, Alfredo Quiñones-Hinojosa, Jennifer Peterson, Mary Lee Vance, Jason P Sheehan
PURPOSE: To compare and describe the time to endocrine remission and new hypopituitarism among patients with growth hormone (GH) and adrenocorticotropic hormone (ACTH)-secreting pituitary adenomas after radiosurgery, controlling for several known prognostic factors. METHODS AND MATERIALS: An institutional review board-approved, institutional retrospective analysis of patients with GH- and ACTH-secreting pituitary adenomas was performed, with matching for patient sex, age at radiosurgery, interval between the last resection and radiosurgery, use of previous radiation therapy, whole sella treatment, suprasellar extension, cavernous sinus invasion, and margin dose...
February 20, 2018: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#6
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29670116/association-between-radiological-parameters-and-clinical-and-molecular-characteristics-in-human-somatotropinomas
#7
María R Alhambra-Expósito, Alejandro Ibáñez-Costa, Paloma Moreno-Moreno, Esther Rivero-Cortés, Mari C Vázquez-Borrego, Cristóbal Blanco-Acevedo, Álvaro Toledano-Delgado, María S Lombardo-Galera, Juan A Vallejo-Casas, Manuel D Gahete, Justo P Castaño, María A Gálvez, Raúl M Luque
Acromegaly is a rare but severe disease, originated in 95% of cases by a growth hormone-secreting adenoma (somatotropinoma) in the pituitary. Magnetic resonance imaging (MRI) is a non-invasive technique used for the diagnosis and prognosis of pituitary tumours. The aim of this study was to determine whether the use of T2-weighted signal intensity at MRI could help to improve the characterisation of somatotropinomas, by analysing its relationship with clinical/molecular features. An observational study was implemented in a cohort of 22 patients (mean age = 42...
April 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29667493/non-adenomatous-pituitary-tumours-mimicking-functioning-pituitary-adenomas
#8
Zize Feng, Zhigang Mao, Zongming Wang, Bing Liao, Yonghong Zhu, Haijun Wang
OBJECTIVE: Pituicytomas and granular cell tumours (GCTs) of the neurohypophysis are considered non-adenomatous neoplasms in the sellar region. The association between hormone hypersecretion and the tumours is seldom discussed and unclear. Therefore, we attempt to investigate this association based on our experience and a review of the literature. METHODS: We report three patients who presented with Cushing's syndrome- or acromegaly-like symptoms at our institution...
April 18, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29664314/iran-pituitary-tumor-registry-description-of-the-program-and-initial-results
#9
Mohammad Ebrahim Khamseh, Mohammad Reza Mohajeri Tehrani, Zohreh Mousavi, Mojtaba Malek, Mehrnaz Imani, Nasim Hoshangian Tehrani, Mohammad Ghorbani, Hamideh Akbari, Farzaneh Sarvghadi, Atieh Amouzegar, Fatemeh Esfahanian, Nahid Hashemi Madani, Zahra Emami
BACKGROUND: This study was designed to present initial results on clinical presentation, therapeutic modalities, and outcome information of patients with pituitary tumors registered in Iran Pituitary Tumor Registry (IPTR). METHODS: We collected data from a web-based electronic medical records of patients with various pituitary tumors referred to four tertiary care centers in the country. Retrospective analysis was performed on demographic, clinical, and therapeutic information of 298 patients including 51 clinically nonfunctioning adenoma (CNFA), 85 acromegaly, 135 prolactinoma, and 27 Cushing's disease (CD)...
December 31, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29662597/acromegaly-and-hyperparthyroidism-about-a-rare-association
#10
Mohamed Chermiti, Dhia Kaffel
No abstract text is available yet for this article.
2018: Pan African Medical Journal
https://www.readbyqxmd.com/read/29659365/-association-between-diabetic-ketoacidosis-and-acromegaly
#11
Paloma Ocampo, Juan Manuel Duarte, Ricardo Barcia, Cecilia Arévalo
Diabetes mellitus occurs in nearly 10% of patients with acromegaly and is secondary to insulin resistance caused by high levels of growth hormone. Diabetes ketoacidosis has been described as a rare complication of acromegaly, resulting from a relative insulin deficiency caused by growth hormone excess. We described the case of a 38 year-old man who presented to the emergency room with a 6-week history of polydipsia, polyuria, polyphagia and weight loss. He also had nausea, vomiting and abdominal pain from two days before admission...
2018: Medicina
https://www.readbyqxmd.com/read/29659356/acromegaly-a-rare-disease
#12
Oscar D Bruno
Acromegaly is generally considered a benign and uncommon disease. However, some recent data bring support to the idea that it is more frequent than previously thought. Besides, acromegaly can significantly shorten the length of life due to its cardiovascular and metabolic complications. Since its clinical signs are insidiously progressive for many years, there is a considerable delay in its detection. Usually, many different specialists have been consulted before reaching diagnosis of acromegaly. Those specialists include cardiologists, pulmonologists, dentists, rheumatologists, and diabetes specialists...
2018: Medicina
https://www.readbyqxmd.com/read/29644512/cognitive-behavioral-therapy-improves-the-quality-of-life-of-patients-with-acromegaly
#13
REVIEW
Lia Silvia Kunzler, Luciana Ansaneli Naves, Luiz Augusto Casulari
BACKGROUND: The delayed diagnosis, altered body image, and clinical complications associated with acromegaly impair quality of life. PURPOSE: To assess the efficacy of the cognitive-behavioral therapy (CBT) technique "Think Healthy" to increase the quality of life of patients with acromegaly. METHODS: This non-randomized clinical trial examined ten patients with acromegaly (nine women and one man; mean age, 55.5 ± 8.4 years) from a convenience sample who received CBT...
April 11, 2018: Pituitary
https://www.readbyqxmd.com/read/29643875/association-of-clinical-and-laboratory-parameters-with-ambulatory-arterial-stiffness-index-in-acromegaly-patients
#14
Faruk Kilinc, Zafer Pekkolay, Fatih Demircan, Nevzat Gozel, Alpaslan Kemal Tuzcu
Objective: In this study, we determined the relationship between the ambulatory arterial stiffness index (AASI) and clinical and laboratory parameters in patients with acromegaly. Methods: Sixty-five patients with acromegaly, who visited to Dicle University Medical Faculty Department of Endocrinology (33 females and 32 males), were included in this study. The study control group consisted of 65 subjects. Demographic and clinical data were recorded. Laboratory data (complete blood count, blood urea nitrogen, creatinine, electrolytes, albumin, lipid profile, growth hormone [GH], insulin-like growth factor-1, and the 75-g oral glucose tolerance test) performed over the last year were evaluated...
January 2018: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29626274/predictors-of-surgical-outcome-and-early-criteria-of-remission-in-acromegaly
#15
Ximene Antunes, Nina Ventura, Gustavo Bittencourt Camilo, Luiz Eduardo Wildemberg, Andre Guasti, Paulo José M Pereira, Aline Helen Silva Camacho, Leila Chimelli, Paulo Niemeyer, Mônica R Gadelha, Leandro Kasuki
BACKGROUND: Transsphenoidal surgery (TSS) is the cornerstone of acromegaly treatment, however there are no robust predictors of surgical outcome and remission can only be defined three months after surgery. PURPOSE: To analyze if biochemical, demographical, radiological, and immunohistochemical characteristics are predictors of surgical remission and investigate if immediate postoperative GH and IGF-I levels can help defining remission earlier. METHODS: Consecutive acromegaly patients submitted to TSS between 2013-2016 were evaluated...
April 6, 2018: Endocrine
https://www.readbyqxmd.com/read/29624481/craniofacial-manifestations-of-systemic-disorders-ct-and-mr-imaging-findings-and-imaging-approach
#16
V Carlota Andreu-Arasa, Margaret N Chapman, Hirofumi Kuno, Akifumi Fujita, Osamu Sakai
Many systemic diseases or conditions can affect the maxillofacial bones; however, they are often overlooked or incidentally found at routine brain or head and neck imaging performed for other reasons. Early identification of some conditions may significantly affect patient care and alter outcomes. Early recognition of nonneoplastic hematologic disorders, such as thalassemia and sickle cell disease, may help initiate earlier treatment and prevent serious complications. The management of neoplastic diseases such as lymphoma, leukemia, or Langerhans cell histiocytosis may be different if diagnosed early, and metastases to the maxillofacial bones may be the first manifestation of an otherwise occult neoplasm...
April 6, 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29624099/use-of-electronic-health-records-to-characterize-a-rare-disease-in-the-usa-treatment-comorbidities-and-follow-up-trends-among-patients-with-a-confirmed-diagnosis-of-acromegaly
#17
Julie M Silverstein, Erin D Roe, Kashif M Munir, Janet L Fox, Birol Emir, Maria Kouznetsova, Lois E Lamerato, Donna King
Purpose Understanding of acromegaly disease management is hampered in the US by lack of a national registry. We describe medical management in a population with confirmed acromegaly. Methods Inpatient and outpatient Electronic Health Records (EHR) were used to create a database of de-identified patients assigned the Acromegaly and Gigantism ICD-9 code and/or an appropriate pituitary procedure code at one of four regional hospital systems over a 6-11 year period. Information regarding demographics, medical history, labs, procedures and medications was collected and supplemented with a chart review to validate the diagnosis of acromegaly...
April 6, 2018: Endocrine Practice
https://www.readbyqxmd.com/read/29623208/a-rare-challenging-case-of-co-existent-craniopharyngioma-acromegaly-and-squamous-cell-lung-cancer
#18
Athanasios Fountas, Shu Teng Chai, John Ayuk, Neil Gittoes, Swarupsinh Chavda, Niki Karavitaki
Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29618021/persistence-of-diabetes-and-hypertension-after-multimodal-treatment-of-acromegaly
#19
Baldomero González, Guadalupe Vargas, Ana Laura Espinosa de Los Monteros, Victoria Mendoza, Moisés Mercado
Context: Diabetes and hypertension are frequent comorbidities of acromegaly. Objective: To analyze the course of diabetes and hypertension at diagnosis and after multimodal therapy in a large cohort of patients with acromegaly. Design and setting: Retrospective study, at a tertiary care center. Patients and methods: 522 patients with acromegaly treated according to a pre-established protocol. Main outcome measures: Prevalence of diabetes and hypertension and its relationship with biochemical indices of acromegalic control...
March 30, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29605877/how-are-growth-hormone-and-insulin-like-growth-factor-1-reported-as-markers-for-drug-effectiveness-in-clinical-acromegaly-research-a-comprehensive-methodologic-review
#20
REVIEW
Michiel J van Esdonk, Eline J M van Zutphen, Ferdinand Roelfsema, Alberto M Pereira, Piet H van der Graaf, Nienke R Biermasz, Jasper Stevens, Jacobus Burggraaf
OBJECTIVE: In rare disease research, most randomized prospective clinical trials can only use limited number of patients and are comprised of highly heterogeneous populations. Therefore, it is crucial to report the results in such a manner that it allows for comparison of treatment effectiveness and biochemical control between studies. The aim of this review was to investigate the current methods that are being applied to measure and report growth hormone (GH) and insulin-like growth factor-1 (IGF-1) as markers for drug effectiveness in clinical acromegaly research...
March 31, 2018: Pituitary
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