Results 41 to 50 of about 3,229 (215)

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans [PDF]

, 2017
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood.
Angela F. Brady, Annette Grüters, Annie M. Procter, Brigitte Strahm, Charlotte M. Niemeyer, Dale A. Moulding, Deborah Morrogh, Dieter Knöbl, Federica Buonocore, George K. Kokai, Glenn Anderson, Harald Stachelscheid, Ignacio Del Valle, Jenifer P. Suntharalingham, Jerry K.H. Wales, John C. Achermann, Le, Lemos de Matos, Li, Marcin W. Wlodarski, Martin Digweed, Miriam Erlacher, Mohammed Didi, Noushafarin Khajavi, Oliver Blankenstein, Paolo Ghirri, Paul Dimitri, Peter Kühnen, Shane A. McKee, Wei Chen, Wu   +30 more
core   +4 more sources

Multimodal imaging in the differential diagnosis of soft tissue calcinosis

Reumatismo, 2011
Soft tissue calcinosis is a common radiographic finding, which may be related to different types of pathological processes. Multimodality imaging, combined with analysis of clinical and laboratory data, plays an important role for the differential ...
G. Garlaschi, A. Muda, M. Revelli, A. Denegri, P. Ameri, F. Paparo, M.A. Cimmino   +6 more
doaj   +1 more source

Increased uptake on ^99mTc bone scintigraphy in a case of tumoral calcinosis in a child

BJR|case reports, 2015
Tumoral calcinosis is an idiopathic condition resulting in the periarticular deposition of calcium crystals and salts in soft tissues. It is rare in children, and even rarer in idiopathic form.
N Jawad, M Dumba, P Brock, K McHugh
doaj   +1 more source

Calcinosis of the internal jugular vein: Interesting presentation of tertiary hyperparathyroidism

Clinical Case Reports, 2022
Tumoral calcinosis is a severe complication of hemodialysis. A 49‐year‐old male on dialysis for end‐stage renal disease developed a large calcified retropharyngeal mass. This caused stridor and dyspnea, necessitating an emergency awake tracheostomy. This
Courtney B. Shires, Mona Shete
doaj   +1 more source

Chronic Hyperphosphatemia and Vascular Calcification Are Reduced by Stable Delivery of Soluble Klotho [PDF]

, 2016
αKlotho (αKL) regulates mineral metabolism, and diseases associated with αKL deficiency are characterized by hyperphosphatemia and vascular calcification (VC).
Bhaskaran, Manoj, Cass, Taryn A., Clinkenbeard, Erica L., Cramer, Martin S., Hum, Julia M., Johnson, Robert L., O’Bryan, Linda M., Smith, Rosamund C., Tatiparthi, Arun K., White, Kenneth E., Wilson, Jonathan M.   +10 more
core   +1 more source

Familial tumoral calcinosis in two Chinese patients: a case series

Journal of Medical Case Reports, 2011
Introduction Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints.
Cheng Xiaoli, Gu Jiaowei, Zhang Che, Xiong Kui   +3 more
doaj   +1 more source

Tumoral calcinosis

Journal of British Surgery, 1972
Abstract An extreme case of tumoral calcinosis is presented. This condition is common in the highland natives of New Guinea and is commonly referred to as “hip stones”. The pathogenesis, clinical findings, and treatment are discussed and the relevant literature is reviewed.
openaire   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Tumoral calcinosis of bilateral hip joint in an adult female: A Case report [PDF]

Rwanda Medical Journal, 2019
The term Tumoral Calcinosis (TC) was coined by Inclan in 1943 but similar pathological entities were recognized in the late 1890s [1,2]. It is a rare condition consisting of accumulation of calcium in periarticular tissue outside of capsule.
F. Byiringiro Mugabe, B. Rugwizangoga
doaj  

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects [PDF]

, 2010
Background α-Klotho (αKl) regulates mineral metabolism such as calcium ion (Ca2+) and inorganic phosphate (Pi) in circulation. Defects in mice result in clinical features resembling disorders found in human aging.
Aono, Yukiko, Econs, Michael J., Hasegawa, Hisashi, Hataya, Hiroshi, Ichikawa, Shoji, Imel, Erik A., Imura, Akihiro, Kitaoka, Taichi, Kurumatani, Norio, Murakami, Junko, Nabeshima, Yo-ichi, Nakatani, Kimihiko, Namba, Noriyuki, Okamoto, Nozomi, Ozono, Keiichi, Saito, Yoshihiko, Sakai, Tomoyuki, Shimada, Takashi, Urakawa, Itaru, Yamashita, Takeyoshi, Yamazaki, Yuji   +20 more
core   +1 more source