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https://read.qxmd.com/read/38601065/from-knee-pain-consultation-to-pituitary-surgery-the-challenge-of-cushing-disease-diagnosis
#1
Maria Alejandra Gómez-Gutiérrez, Juan Miguel Huertas-Cañas, Andrés Bedoya-Ossa
Cushing syndrome (CS) is a rare endocrinological disorder resulting from chronic exposure to excessive cortisol. The term Cushing disease is used specifically when this is caused by excessive secretion of adrenocorticotropic hormone (ACTH) by a pituitary tumor, usually an adenoma. This disease is associated with a poor prognosis, and if left untreated, it has an estimated 5-year survival rate of 50%. We present the case of a 66-year-old female patient who received a referral to endocrinology for an evaluation of obesity due to right knee arthropathy...
April 2024: JCEM Case Rep
https://read.qxmd.com/read/38521532/prospective-validity-of-a-clinical-prediction-rule-for-response-to-non-surgical-multidisciplinary-management-of-knee-osteoarthritis-in-tertiary-care-a-multisite-prospective-longitudinal-study
#2
JOURNAL ARTICLE
Peter Window, Maree Raymer, Steven M McPhail, Bill Vicenzino, Andrew Hislop, Alex Vallini, Bula Elwell, Helen O'Gorman, Ben Phillips, Anneke Wake, Adrian Cush, Stuart McCaskill, Linda Garsden, Miriam Dillon, Andrew McLennan, Shaun O'Leary
OBJECTIVES: We tested a previously developed clinical prediction tool-a nomogram consisting of four patient measures (lower patient-expected benefit, lower patient-reported knee function, greater knee varus angle and severe medial knee radiological degeneration) that were related to poor response to non-surgical management of knee osteoarthritis. This study sought to prospectively evaluate the predictive validity of this nomogram to identify patients most likely to respond poorly to non-surgical management of knee osteoarthritis...
March 23, 2024: BMJ Open
https://read.qxmd.com/read/35415233/losartan-as-a-steroid-sparing-adjunct-in-a-patient-with-features-of-refractory-camurati-engelmann-disease
#3
Khushboo Agarwal, Remya Rajan, Jinson Paul, Kripa Elizabeth Cherian, Nitin Kapoor, Thomas V Paul
Objective: The treatment of Camurati-Engelmann disease (CED) involves the use of glucocorticoids, analgesics, and bisphosphonates; experience with the use of losartan is limited. Our objective was to describe the case of a patient diagnosed with CED whose symptoms remained refractory while on steroids and bisphosphonates and who was successfully treated with losartan. Case Report: A 27-year-old woman presented with bone pain involving her extremities and large joints for 1 year...
March 2022: AACE Clinical Case Reports
https://read.qxmd.com/read/34144582/multiple-metatarsal-fractures-the-first-manifestation-of-cushing-s-disease-a-case-report
#4
JOURNAL ARTICLE
Vilim Molnar, Paulo Zekan, Tina Dušek, Alan Ivković
Cushing's syndrome is an uncommon clinical condition most frequently presenting with central obesity, facial rounding, proximal muscle weakness, and skin thinning. The objective of this case report is to highlight an unusual presentation of Cushing's syndrome. A 35-year-old woman presented to the orthopedic clinic with a 1-year history of foot pain without any history of trauma. Radiography of the foot showed multiple metatarsal fractures. Evaluation for secondary causes of reduced bone strength revealed that the patient had Cushing's disease, although other typical signs and symptoms were not remarkable...
May 1, 2021: Journal of the American Podiatric Medical Association
https://read.qxmd.com/read/33665239/spontaneous-bone-infarction-of-the-distal-femur-in-a-patient-with-cushing-s-disease-a-case-report
#5
Pepijn van Houten, Jacky de Rooy, Ingrid van der Geest, Romana Netea-Maier, Annenienke van de Ven
Avascular necrosis of the femoral head is a well-known complication of treatment with high dosage glucocorticoids and has been described in a few patients with Cushing's syndrome. In this case report, we describe the, to our knowledge, first case of a patient with endogenous Cushing's syndrome with a bone infarction located in the distal femur. In patients with Cushing's syndrome and bone pain, the diagnosis of bone infarction should be considered as it can occur as a rare complication of hypercortisolism.
June 2021: Bone Reports
https://read.qxmd.com/read/33344623/discontinuous-polyostotic-fibrous-dysplasia-with-multiple-systemic-disorders-and-unique-genetic-mutations-a-case-report
#6
Tiao Lin, Xin-Yu Li, Chang-Ye Zou, Wei-Wei Liu, Jun-Fan Lin, Xin-Xin Zhang, Si-Qi Zhao, Xian-Biao Xie, Gang Huang, Jun-Qiang Yin, Jing-Nan Shen
BACKGROUND: Polyostotic fibrous dysplasia (PFD) is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue. The etiology of PFD is unclear, but it is generally thought to be caused by sporadic, post-zygotic mutations in the GNAS gene. Herein, we report the case of a young female with bone pain and lesions consistent with PFD, unique physical findings, and gene mutations. CASE SUMMARY: A 27-year-old female presented with unbearable bone pain in her left foot for 4 years...
December 6, 2020: World Journal of Clinical Cases
https://read.qxmd.com/read/32154490/leptomeningeal-metastasis-from-adrenocortical-carcinoma-a-case-report
#7
Anna R Schreiber, Adwitiya Kar, Andrew E Goodspeed, Nikita Pozdeyev, Hilary Somerset, Christopher D Raeburn, Aik-Choon Tan, Stephen Leong, Margaret E Wierman, Katja Kiseljak-Vassiliades
Adrenocortical carcinoma (ACC) is an uncommon endocrine malignancy with limited treatment options. While the overall 5-year survival rate in patients with ACC is 35%, the disease is often rapidly progressive with long-term survival in only 5% of patients. Although tumor stage, grade, and excess hormonal activity predict unfavorable prognosis, additional biomarkers are needed to identify patients with aggressive disease. A 23-year-old woman presented with rapidly progressing signs and symptoms of Cushing's syndrome, with associated abdominal pain and fullness...
March 1, 2020: Journal of the Endocrine Society
https://read.qxmd.com/read/27017329/-craniofacial-fibrous-dysplasia
#8
JOURNAL ARTICLE
A Couturier, O Aumaître, T Mom, L Gilain, M André
Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes...
December 2016: La Revue de Médecine Interne
https://read.qxmd.com/read/25130110/a-rare-presentation-of-subclinical-cushing-s-syndrome-as-a-pubic-fracture
#9
JOURNAL ARTICLE
Ayse Arduc, Bercem Aycicek Dogan, Gulhan Akbaba, Iffet Dagdelen, Kerim Kucukler, Serhat Isik, Ufuk Ozuguz, Dilek Berker, Serdar Guler
Osteoporosis and bone fractures are commonly seen in patients with Cushing's syndrome (CS). Fractures usually occur in the vertebrae and ribs whereas pubic fractures are less common. Similar to obvious hypercortisolemia, subclinical hypercortisolemia can increase the risk of fractures. However, in subclinical cases, bone fractures are very rarely seen as the presenting symptom. We herein report the case of a 62-year-old postmenopausal woman who was presented with a pubic fracture. During the evaluation of the fracture, thoracoabdominal magnetic resonance imaging of the patient demonstrated an adrenal mass...
2014: Internal Medicine
https://read.qxmd.com/read/22744494/severe-spinal-deformity-and-multiple-vertebral-collapses-in-juvenile-cushing-syndrome-a-case-report
#10
JOURNAL ARTICLE
Enrico Pola, Barbara Rossi, Marilda Mormando, Luigi Aurelio Nasto, Debora Colangelo, Silvia Della Casa, Laura De Marinis, Lorenzo Aulisa
Cushing's Syndrome (CS) is rare in adolescence but the pathological effects of excessive circulating glucocorticoids concentration on bone during the developmental age still represent a challenge for orthopedists. Only few reports describe the gravity of early developed damages of spine in young affected by CS. A 18-years-old woman suffering from Cushing's Disease presented after many years treatment of the primary disease referring severe back pain and worsening back deformity. Radiological investigations showed vertebral collapses a devastating thoraco-lumbar scoliosis of 80° Cobb...
2012: Studies in Health Technology and Informatics
https://read.qxmd.com/read/21351669/-schnitzler-syndrome-case-report-the-experience-with-glucocorticoid-and-anakinra-kineret-therapies-and-monitoring-of-systemic-cytokine-response
#11
JOURNAL ARTICLE
P Szturz, Z Adam, M Klabusay, Z Fojtík, Z Kadanka, O Stehlíková, J Chovancová, L Kalvodová, D Corbová, K Starý, J Neubauer, J Prásek, R Koukalová, Z Rehák, R Hájek, J Mayer
Schnitzler syndrome is a rare idiopathic disease characterized by chronic urtica, presence of monoclonal IgM immunoglobuline and further, less common symptoms. This case report describes another case of this disease affecting a male adult born in 1963. The first symptoms, eruptions of non-pruritic urticarial rash, appeared in this patient at the age of 43. In addition, bone pains (mainly tibias) and joint pains (mainly knees) were present. Later on however, severe attacks of fever, chills and shaking together with bone and joint pains were added to during which new urticarial eruptions appeared...
January 2011: Vnitr̆ní Lékar̆ství
https://read.qxmd.com/read/21340156/application-of-genetic-testing-to-define-the-surgical-approach-in-a-sporadic-case-of-multiple-endocrine-neoplasia-type-1
#12
JOURNAL ARTICLE
Cesar Luiz Boguszewski, Leila Caroline Bianchet, Salmo Raskin, Luiz M Nomura, Luis Alencar Borba, Teresa Cristina Santos Cavalcanti
We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip...
November 2010: Arquivos Brasileiros de Endocrinologia e Metabologia
https://read.qxmd.com/read/18489744/mccune-albright-syndrome
#13
JOURNAL ARTICLE
Claudia E Dumitrescu, Michael T Collins
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting...
May 19, 2008: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/18070581/adrenocortical-carcinoma-with-endocrine-syndromes
#14
JOURNAL ARTICLE
Aatif Hassan Shaikh, Salman El Khalid, Noor Nabi Junejo
Adrenocortical carcinoma is a rare disease. A 32 years old lady presented with complaints of hypertension, abdominal swelling, weight gain, hirsutism and bone pains. She was found to have a large adrenocortical carcinoma with associated Cushing's and virilization syndromes. Radical adrenalectomy was done with subsequent plan for Mitotane and radio frequency ablation for hepatic metastasis. However, she succumbed to respiratory failure due to ARDS, a month after operation.
November 2007: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://read.qxmd.com/read/17649795/cortisol-as-a-possible-marker-of-metastatic-adrenocortical-carcinoma-a-case-report-with-3-year-follow-up
#15
JOURNAL ARTICLE
Sebastian Schwarte, Ernst G Brabant, Leonard Bastian, Frank Bruns
BACKGROUND: Adrenocortical carcinoma (ACC) is a rare tumour, sometimes causing glucocorticoid hypersecretion. Treatment guidelines have not been established, but are currently under investigation. CASE REPORT: A 55-year-old Caucasian woman presented with adrenal Cushing's disease. Histological examination after a left adrenalectomy revealed a benign tumour. Postoperatively, elevated serum cortisol levels normalized. Hypercortisolism occurred again two years later...
July 2007: Anticancer Research
https://read.qxmd.com/read/17270667/small-cell-carcinoma-of-the-female-genital-tract
#16
REVIEW
Sara Crowder, Erin Tuller
Small cell carcinoma (SCC) of the female genital tract is rare, constituting less than 2% of all gynecologic malignancies. It occurs most frequently in the cervix but can also occur in the endometrium, ovary, fallopian tube, vagina, and vulva. SCC of the genital tract is microscopically indistinguishable from that of the lung. Neuroendocrine differentiation is often manifested by a histologic growth pattern, argyrophilia, ultrastructural demonstration of secretory granules, and expression of neuroendocrine markers...
February 2007: Seminars in Oncology
https://read.qxmd.com/read/16932253/difficulty-in-the-diagnosis-of-cushing-disease
#17
JOURNAL ARTICLE
Lynnette K Nieman
BACKGROUND: A 48-year-old woman presented to our clinic 1 year after hypertension was discovered on a routine screening visit. During the previous year, she had noticed weight gain in the face and abdomen, easy bruising, oligomenorrhea and facial and periareolar hair growth. On presentation, she reported no weakness, fracture, back pain, depression, irritability, problem with cognition or memory, increased appetite, hot flashes or altered sleep. Previous medication history included 2...
January 2006: Nature Clinical Practice. Endocrinology & Metabolism
https://read.qxmd.com/read/16610696/cytopathologic-features-of-pituitary-carcinoma-with-cervical-vertebral-bone-metastasis-a-case-report
#18
JOURNAL ARTICLE
Koray Ceyhan, Banu Yagmurlu, Basak Erguvan Dogan, Nural Erdogan, Safak Bulut, Selim Erekul
BACKGROUND: Pituitary carcinomas are extremely rare tumors of the adenohypophysis. The presence of craniospinal and/or systemic extracranial metastases is the only reliable criterion for the diagnosis of pituitary carcinoma. To date, only 2 cases have been reported correctly by fine needle aspiration biopsy (FNAB). We present an additional case of pituitary carcinoma with FNAB features. CASE: A 60-year-old woman presented with clinical features of Cushing's disease and a pituitary tumor...
March 2006: Acta Cytologica
https://read.qxmd.com/read/12593622/endonasal-transsphenoidal-approach-for-pituitary-adenomas-and-other-sellar-lesions-an-assessment-of-efficacy-safety-and-patient-impressions
#19
COMPARATIVE STUDY
Gabriel Zada, Daniel F Kelly, Pejman Cohan, Christina Wang, Ronald Swerdloff
OBJECT: The direct endonasal approach performed with the aid of an operating microscope for removal of pituitary tumors has the potential advantage over the traditional sublabial route of minimizing postoperative rhinological complications, yet maintaining a high degree of efficacy and safety. To assess the effectiveness of this procedure, tumor remission rates and surgical complications were documented, and patients' postoperative complaints were recorded using a questionnaire. METHODS: One hundred consecutive patients underwent 109 endonasal operations for tumor removal...
February 2003: Journal of Neurosurgery
https://read.qxmd.com/read/12199348/mccune-albright-syndrome-the-german-experience
#20
JOURNAL ARTICLE
N Albers, S Jörgens, D Deiss, B P Hauffa
The classical McCune-Albright syndrome (MAS) consists of peripheral precocious puberty (PPP), fibrous bone dysplasia and café-au-lait spots. We conducted a survey among pediatric endocrinologists in Germany, Austria and Switzerland, most of them participating in the German Working Group for Pediatric Endocrinology (APE). Thirty-three physicians reported 58 patients. A detailed questionnaire yielded extensive data from 41 patients. Patients (36 females, 5 males) were diagnosed between the 4th week of life and 8 years...
2002: Journal of Pediatric Endocrinology & Metabolism: JPEM
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