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Dirk-Jan van Beek, Rachel S van Leeuwaarde, Carolina R C Pieterman, Menno R Vriens, Gerlof D Valk and the DutchMEN Study Group

Introduction Rare diseases that affect less than one in 2000 people, pose challenges in supporting patients and physicians with evidence-based guidelines of sufficient quality ( 1 ). Medical decision making becomes challenging when guidelines

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Mette H Viuff and Claus H Gravholt

Turner syndrome (TS) is a condition with a missing X chromosome (45,X) or parts thereof or with a mosaic setup (45,X/46,XX or other variants). It is a rare disease. New international guidelines describe an appropriate setup for optimal clinical

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M S Elston, V B Crawford, M Swarbrick, M S Dray, M Head and J V Conaglen

patient with metastatic prostate adenocarcinoma . American Journal of Kidney Diseases 2001 37 838 – 846 . ( doi:10.1016/S0272-6386(01)80134-7 ) 42 Nimalasena S Freeman A Harland S. Paraneoplastic Cushing’s syndrome in prostate cancer

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Caroline Culen, Diana-Alexandra Ertl, Katharina Schubert, Lisa Bartha-Doering and Gabriele Haeusler

Introduction Turner syndrome (TS) is caused by structural anomalies in or complete loss of the X-chromosome (45X). Although a rare disease with an incidence of 1 in 2500 female births, it is nevertheless the most common sex chromosome

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Elizaveta Mamedova, Natalya Mokrysheva, Evgeny Vasilyev, Vasily Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina Melnichenko, Ivan Dedov and Anatoly Tiulpakov

sufficiently described due to the rarity of the disease ( 4 ). FHH is genetically heterogeneous, but FHH type 1 caused by heterozygous mutations in CASR gene is the most common form ( 8 ). FHH is usually asymptomatic, and rare complications observed in FHH

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Natalie Rogowski-Lehmann, Aikaterini Geroula, Aleksander Prejbisz, Henri J L M Timmers, Felix Megerle, Mercedes Robledo, Martin Fassnacht, Stephanie M J Fliedner, Martin Reincke, Anthony Stell, Andrzej Januszewicz, Jacques W M Lenders, Graeme Eisenhofer and Felix Beuschlein

identifying at-risk patients and family members who might benefit from routine surveillance for associated syndromic features. Nevertheless, even for patients without these mutations, there is risk of recurrent disease that can result in cardiovascular

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Rimesh Pal, Sanjay Kumar Bhadada, Awesh Singhare, Anil Bhansali, Sadishkumar Kamalanathan, Manoj Chadha, Phulrenu Chauhan, Ashwani Sood, Vandana Dhiman, Dinesh Chandra Sharma, Uma Nahar Saikia, Debajyoti Chatterjee and Vikas Agashe

Introduction Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by persistent hypophosphatemia. The basic pathophysiology of underlying hypophosphatemia is increased renal

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Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah

) 16098009 10.1111/j.1399-0004.2005.00482.x 59 Roman S Nicolino M Mion F Tullio-Pelet A Péré-Vergé D Souquet JC. Triple A syndrome: a rare etiology of adult achalasia . Digestive Diseases and Sciences 2005 50 440 – 442 . ( doi:10.1007/s10620

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Xi Wang and Qi Yu

. McCune–Albright syndrome . Orphanet Journal of Rare Diseases 2008 3 12 . ( https://doi.org/10.1186/1750-1172-3-12 ) 2 Weinstein LS Shenker A Gejman PV Merino MJ Friedman E Spiegel AM. Activating mutations of the stimulatory G protein in the

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Bjørn O Åsvold, Valdemar Grill, Ketil Thorstensen and Marit R Bjørgaas

Cushing's syndrome 27 (51)  Evaluation of adrenal incidentaloma 26 (49) Pretest morning plasma cortisol  (nmol/l; n =48) 550 (196) Previous surgical treatment for Cushing's disease ( n (%)) 3 (6) Body mass index (kg/m 2 ; n =45) 29.6 (5.4) Systolic