Recessive x-Linked Ichthyosis: Role of Cholesterol-Sulfate Accumulation in the Barrier Abnormality

Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate.

A specific, accurate liquid-chromatographic/mass-spectrometric (HPLC/MS) method for measurement of cholesterol sulfate in plasma from normal individuals and patients with recessive X-linked ichthyosis (RXLI) is described. The method is superior to previously described techniques because it measures the analyte intact rather than after hydrolysis. Traces of free cholesterol in the sample analyze...

X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein.

Plasma cholesterol sulfate concentration is increased in patients with recessive X-linked ichthyosis, a disease in which steroid sulfatase activity is absent. In these patients, cholesterol sulfate is found primarily in the low-density lipoprotein fraction of plasma, and the electrophoretic mobility of these lipoproteins is greatly increased.

Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis.

Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene

Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...

the analysis of the role of the speech acts theory in translating and dubbing hollywood films

از محوری ترین اثراتی که یک فیلم سینمایی ایجاد می کند دیالوگ هایی است که هنرپیش گان فیلم میگویند. به زعم یک فیلم ساز, یک شیوه متأثر نمودن مخاطب از اثر منظوره نیروی گفتارهای گوینده, مثل نیروی عاطفی, ترس آور, غم انگیز, هیجان انگیز و غیره, است. این مطالعه به بررسی این مسأله مبادرت کرده است که آیا نیروی فراگفتاری هنرپیش گان به مثابه ی اعمال گفتاری در پنج فیلم هالیوودی در نسخه های دوبله شده باز تولید...