نتایج جستجو برای: chediak

تعداد نتایج: 572  

2012
Hilary Denis Solomons

Validation of a method of blood pressure measurement for a study of hypertension in a black African population. Cahiers d'études recherches francophones/santé vasculaire chez l'adulte en milieu rural à Thiadiaye. The prevalence of hyperten-sion and its relationship with obesity: results from a national blood pressure survey in Eritrea. Faciès de l'hypertension artérielle en milieu professionnel...

Journal: :Pediatric dermatology 2004
Juliana Burihan Cahali Solange Assuncion Villagra Fernandez Zilda Najjar Prado Oliveira Maria Cecília da Mata Rivitti Machado Neusa Sakai Valente Mírian Nacagami Sotto

Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunol...

Journal: :Proceedings of the Royal Society of Medicine 1975

Journal: :Science 1966
D B Windhorst A S Zelickson R A Good

In the Chediak-Higashi syndrome, an anomalous hypopigmentation is associated with large lysosomal granules in the blood leukocytes. Since the inheritance pattern is that of an autosomal recessive trait, we postulated a common mechanism for these two primary features of the disease. Electron microscopy of melanocytes revealed that the pigmentary anomaly is indeed based on giant melanosomes. Sinc...

Journal: :Journal of medical genetics 1970
B Say E Tunçbilek B Yamak S Balci

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

Journal: :Japanese journal of ophthalmology 2003
Kaori Sayanagi Takashi Fujikado Takashi Onodera Yasuo Tano

BACKGROUND The change of visual function in Chediak-Higashi syndrome has not been well described. CASES The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations. OBSERVATIONS A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were obse...

2006
BURHAN SAY ERGUL TUNCBILEK SEVIM BALCI

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

Journal: :Blood 1972
R A Clark H R Kimball G A Padgett

Studies of granulocyte chemotaxiswere Higashi mink generated normal performed in mink with the Chediakamounts of chemotactic factors. The Higashi syndrome. In vivo migration cellular defect in leukocyte chemotaxis of leukocytes to an inflammatory site in mink is comparable to that observed was reduced in the affected animals. in humans with the Chediak-Higashi In vitro studies documented a cons...

2013
LEAH M. INGRAHAM

An increased membrane fluidity was also detected with a spin label that probes deeper in the bilayer. In vitro treatment of Chediak-Higashi mouse cells with 0.01 M ascorbate increased the order parameter to normal levels. In vitro incubation of mouse Chediak-Higashi cells with glucose oxidase increased the order parameter, similar to the effect of ascorbate. This increase was abolished when cat...

Journal: :iranian journal of allergy, asthma and immunology 0
abolhasan farhoudi zahra chavoshzadeh zahra pourpak mina izadyar mohammad gharagozlou masoud movahedi

chediak - higashi syndrome (chs) is a rare, primary immunodeficiency disorder with an autosomal recessive (ar) inheritance and characterized by re¬current infection, partial occulocutaneous albinism and an accelerated phase. in this report we describe clinical and laboratory findings from 6 chs pa¬tients. clinical and laboratory information of six patients who were referred to our center during...

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