نتایج جستجو برای: achondroplasia

تعداد نتایج: 658  

Journal: :American journal of physiology. Endocrinology and metabolism 2009
Takei Kake Hidetomo Kitamura Yuichiro Adachi Tetsuro Yoshioka Tomoyuki Watanabe Hiroaki Matsushita Toshihito Fujii Eri Kondo Takanori Tachibe Yosuke Kawase Kou-ichi Jishage Akihiro Yasoda Masashi Mukoyama Kazuwa Nakao

C-type natriuretic peptide (CNP) plays a critical role in endochondral ossification through guanylyl cyclase-B (GC-B), a natriuretic peptide receptor subtype. Cartilage-specific overexpression of CNP enhances skeletal growth and rescues the dwarfism in a transgenic achondroplasia model with constitutive active mutation of fibroblast growth factor receptor-3. For future clinical application, the...

Journal: :The Journal of Experimental Medicine 1945
Louise Pearce Wade H. Brown

Pathological observations on hereditary achondroplasia in the rabbit have been described. At autopsy, the chief features of interest are: reduced size with disproportionately shortened extremities and large head, cutaneous and subcutaneous edema of variable degree and distribution, small shortened bones with a cartilaginous appearance and texture, immature teeth, and cleft palate in one-fourth ...

2013
Ali Al Kaissi Sebastian Farr Rudolf Ganger Jochen G Hofstaetter Klaus Klaushofer Franz Grill

Angular deformities of the lower limbs are a common clinical problem encountered in pediatric orthopaedic practices particularly in patients with osteochondrodysplasias. The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. We retrospectively reviewed six patients (four ...

Journal: :Journal of medical genetics 1989
P E Andersen M Hauge

The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which dem...

Journal: :The Journal of Experimental Medicine 2003
Francis H. McCrudden

In two cases of infantilism of the type of Herter, in one case of achondroplasia, and in one case of cretinism, creatin was constantly present in the urine and was increased in amount when the ingestion of carbohydrates was increased.

Journal: :Clinical Pediatric Endocrinology 2020

Journal: :medical journal of islamic republic of iran 0
z karamizadeh from the department of pediatrics, shiraz university of medical sciences, shiraz, islamic republic of iran. gh amirhakimi

recombinant human growth hormone (hgh) was given for 6 months or longer to 68 patients with gh deficiency, 6 with turner's syndrome and 5 with achondroplasia, during 1986-1994 in a prospective study. the total weekly administered dose of gh was 0.6 u/kg. by random sampling, 29 of 68 gh deficient patients (42.6%) received twice weekly (2 iw) intramuscular (im) injections, 17 (25%) received ...

Journal: :Journal of Experimental Medicine 1945

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