نتایج جستجو برای: albinism
تعداد نتایج: 7091 فیلتر نتایج به سال:
The influence of albinism upon initial activity in novel surroundings was examined using coisogenic and congenic lines of mice. In comparison with those of previous studies, an extended test interval was used, and this modification produced significant main and interaction effects of the c locus upon activity for both lines. The present findings confirm and extend those of previous studies upon...
BACKGROUND Skin flora varies from one site of the body to another. Individual's health, age and gender determine the type and the density of skin flora. METHODS A 1 cm² of the skin on the sternum was rubbed with sterile cotton swab socked in 0.9% normal saline and plated on blood agar. This was cultured at 35 °C. The bacteria were identified by culturing on MacConkey agar, coagulase test, ca...
Intracellular ion channels are essential regulators of organellar and cellular function, yet the molecular identity and physiological role of many of these channels remains elusive. In particular, no ion channel has been characterized in melanosomes, organelles that produce and store the major mammalian pigment melanin. Defects in melanosome function cause albinism, characterized by vision and ...
Oculocutaneous albinism is a rare autosomal recessive disorder characterized by general depigmentation, nystagmus, photophobia, and decreased visual acuity. Malignant melanoma is extremely rare in patients with albinism. We present a 41-year-old albino male patient, who was admitted with a suspected bronchogenic carcinoma. He underwent a pulmonary resection and the diagnosis was primary malign ...
BACKGROUND Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision. METHODS We carried out this retrospective study at the ophthalmology unit of our hosp...
Novel Heterogenous CHS1 Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations of CHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. The...
The changes of dermal ridges in albinism patients were studied. The results obtained from subjects with albinism were compared with healthy subjects. A number of 30 patients were finally selected as our sample sizes. To gain a better understanding the results, a case-control study with the similar number of cases and control was designed. The related statistical test, t-test and chi-square, wer...
We read with interest the letter from Alan D. Springer, and would like to thank him for his critique of our recent work. We would like to respond by highlighting valid points, as well as address some clear misunderstandings. First, regarding the reference to ‘‘albinos,’’ a more acceptable term is ‘‘patient/subject/individual/person with albinism.’’ This sensitivity in wording places the person ...
Three experiments were carried out to clarify the effect of thyroid hormones on the pigmentation of larval Japanese flounder Paralichthys olivaceus. The first two experiments were conducted to investigate the critical concentration of thyroxine (T4) which causes abnormal pigmentation, and the third was to determine the sensitive stage of larval development at which albinism is induced by exogen...
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