نتایج جستجو برای: progeria

تعداد نتایج: 858  

Journal: :Ortopedia, traumatologia, rehabilitacja 2009
Bronisław Sowa

Shoulder dislocation is a rare skeletal trauma in childhood and progeria is a rare disease. Our patient had bilateral shoulder dislocation associated with a low energy trauma. Treatment consisted in reposition under general anaesthesia and immmobilisation in a figure of eight cast for 2 weeks.

داعی پاریزی, محمدحسین, شمس الدینی, اسعداله,

Hutchinson - Gilford syndrome or progeria is a rare genetic disease with failure to thrive, deficiency of pubertal development and dwarfism. These patients die of premature cardiovascular disturbances and other complications. Characteristic clinical features are finely thin skin, small chin, defect in skin adnexals, prominance scalp tends to be further enhanced by frontal and perietet bossing a...

Journal: :American journal of medical genetics. Part A 2006
Raoul C M Hennekam

Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from l...

Journal: :AJNR. American journal of neuroradiology 1993
A S Smith M Wiznitzer B A Karaman S J Horwitz C F Lanzieri

We report a case of progeria and the utility of visualizing the cerebrovascular anatomy by using MR angiography. A 4-year-old child with Hutchinson-Guilford syndrome developed symptoms of ischemia and MR angiography showed bilateral occlusion of internal carotid and vertebral artery origins; the anterior spinal artery was prominent.

Journal: :Cell 2012
Yousin Suh Brian K. Kennedy

Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.

2004
Taekyun Chung Ian H. Hutchinson Jeffery A. Coderre

This work was aimed at reproducing experimental results in impurity compression of Ar, as well as the screening of recycling and non-recycling impurities from reaching the core plasma. As part of the study the code was upgraded in order to track the impurity flow from source till it reaches the core, include the energy dependence on recycled impurity atoms, and allow for more realistic impurity...

Journal: :Current Opinion in Cell Biology 2004

Journal: :The British journal of venereal diseases 1974
M A Waugh

It is now almost a hundred years since Fournier, much against the standard belief of the times, proposed that syphilis was the likely cause of tabes dorsalis. Alfred Fournier (Fig. 1) was unquestionably the foremost syphilologist in France in the last 30 years of the 19th century, but his life and works are little known in English-speaking countries, probably because so few of his works have be...

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